Input | HPO ID | HPO term | Distance | Gene | Gene id entrez | HGNC ID | DiseaseId | DiseaseName | Frequency | Onset | HGMD variants | ClinVar variants |
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HPO disease - gene - phenotype typical associations: |
HPO disease - gene - phenotype less frequent non-typical associations: |
HP:0030085 | HP:0030085 | Abnormal CSF lactate concentration | 0 | AIFM1 CL E G H | 9131 | 8768 | OMIM:300816 | Combined oxidative phosphorylation deficiency 6 | | | | 60 | | |
HP:0030085 | HP:0030085 | Abnormal CSF lactate concentration | 0 | AIFM1 CL E G H | 9131 | 8768 | ORPHA:238329 | Severe X-linked mitochondrial encephalomyopathy | | | | 60 | | |
HP:0030085 | HP:0030085 | Abnormal CSF lactate concentration | 0 | ALDH4A1 CL E G H | 8659 | 406 | ORPHA:79101 | Hyperprolinemia type 2 | | | | 74 | | |
HP:0030085 | HP:0030085 | Abnormal CSF lactate concentration | 0 | ATP6 CL E G H | 4508 | 7414 | ORPHA:255210 | Mitochondrial DNA-associated Leigh syndrome | | | | | | |
HP:0030085 | HP:0030085 | Abnormal CSF lactate concentration | 0 | ATPAF2 CL E G H | 91647 | 18802 | OMIM:604273 | Mitochondrial complex V (atp synthase) deficiency, nuclear type 1 | | | | 32 | | |
HP:0030085 | HP:0030085 | Abnormal CSF lactate concentration | 0 | CLPB CL E G H | 81570 | 30664 | OMIM:616271 | 3-Methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia | | | | 38 | | |
HP:0030085 | HP:0030085 | Abnormal CSF lactate concentration | 0 | COA8 CL E G H | 84334 | 20492 | ORPHA:436271 | Non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy | | | | | | |
HP:0030085 | HP:0030085 | Abnormal CSF lactate concentration | 0 | COQ8A CL E G H | 56997 | 16812 | ORPHA:139485 | Autosomal recessive ataxia due to ubiquinone deficiency | | | | 136 | | |
HP:0030085 | HP:0030085 | Abnormal CSF lactate concentration | 0 | COX1 CL E G H | 4512 | 7419 | ORPHA:550 | MELAS | | | | | | |
HP:0030085 | HP:0030085 | Abnormal CSF lactate concentration | 0 | COX10 CL E G H | 1352 | 2260 | OMIM:619046 | MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 3; MC4DN3 | | | | 82 | | |
HP:0030085 | HP:0030085 | Abnormal CSF lactate concentration | 0 | COX14 CL E G H | 84987 | 28216 | OMIM:619053 | MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 10; MC4DN10 | | | | 4 | | |
HP:0030085 | HP:0030085 | Abnormal CSF lactate concentration | 0 | COX15 CL E G H | 1355 | 2263 | ORPHA:255241 | Leigh syndrome with leukodystrophy | | | | 104 | | |
HP:0030085 | HP:0030085 | Abnormal CSF lactate concentration | 0 | COX2 CL E G H | 4513 | 7421 | ORPHA:550 | MELAS | | | | | | |
HP:0030085 | HP:0030085 | Abnormal CSF lactate concentration | 0 | COX20 CL E G H | 116228 | 26970 | OMIM:619054 | MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 11; MC4DN11 | | | | 25 | | |
HP:0030085 | HP:0030085 | Abnormal CSF lactate concentration | 0 | COX3 CL E G H | 4514 | 7422 | ORPHA:550 | MELAS | | | | | | |
HP:0030085 | HP:0030085 | Abnormal CSF lactate concentration | 0 | COX4I1 CL E G H | 1327 | 2265 | OMIM:619060 | MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 16; MC4DN16 | | | | | | |
HP:0030085 | HP:0030085 | Abnormal CSF lactate concentration | 0 | COX6B1 CL E G H | 1340 | 2280 | OMIM:619051 | MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 7; MC4DN7 | | | | 10 | | |
HP:0030085 | HP:0030085 | Abnormal CSF lactate concentration | 0 | COX8A CL E G H | 1351 | 2294 | OMIM:619059 | MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 15; MC4DN15 | | | | 1 | | |
HP:0030085 | HP:0030085 | Abnormal CSF lactate concentration | 0 | DARS2 CL E G H | 55157 | 25538 | ORPHA:137898 | Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome | | | | 60 | | |
HP:0030085 | HP:0030085 | Abnormal CSF lactate concentration | 0 | DNM1L CL E G H | 10059 | 2973 | OMIM:614388 | Encephalopathy due to defective mitochondrial and peroxisomal fission 1 | | | | 94 | | |
HP:0030085 | HP:0030085 | Abnormal CSF lactate concentration | 0 | ECHS1 CL E G H | 1892 | 3151 | ORPHA:255241 | Leigh syndrome with leukodystrophy | | | | 33 | | |
HP:0030085 | HP:0030085 | Abnormal CSF lactate concentration | 0 | ECHS1 CL E G H | 1892 | 3151 | OMIM:616277 | Mitochondrial short-chain enoyl-coa hydratase 1 deficiency | | | | 33 | | |
HP:0030085 | HP:0030085 | Abnormal CSF lactate concentration | 0 | FARS2 CL E G H | 10667 | 21062 | OMIM:614946 | Combined oxidative phosphorylation deficiency 14 | | | | 36 | | |
HP:0030085 | HP:0030085 | Abnormal CSF lactate concentration | 0 | FOXRED1 CL E G H | 55572 | 26927 | ORPHA:2609 | Isolated complex I deficiency | | | | 61 | | |
HP:0030085 | HP:0030085 | Abnormal CSF lactate concentration | 0 | FOXRED1 CL E G H | 55572 | 26927 | ORPHA:255241 | Leigh syndrome with leukodystrophy | | | | 61 | | |
HP:0030085 | HP:0030085 | Abnormal CSF lactate concentration | 0 | GFM1 CL E G H | 85476 | 13780 | OMIM:609060 | Combined oxidative phosphorylation deficiency 1 | | | | 85 | | |
HP:0030085 | HP:0030085 | Abnormal CSF lactate concentration | 0 | GFM2 CL E G H | 84340 | 29682 | ORPHA:565624 | Combined oxidative phosphorylation defect type 39 | | | | 43 | | |
HP:0030085 | HP:0030085 | Abnormal CSF lactate concentration | 0 | GFM2 CL E G H | 84340 | 29682 | OMIM:618397 | Combined oxidative phosphorylation deficiency 39 | | | | 43 | | |
HP:0030085 | HP:0030085 | Abnormal CSF lactate concentration | 0 | HPDL CL E G H | 84842 | 28242 | OMIM:619026 | NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE SPASTICITY AND BRAIN WHITE MATTER ABNORMALITIES; NEDSWMA | | | | | | |
HP:0030085 | HP:0030085 | Abnormal CSF lactate concentration | 0 | HSD17B10 CL E G H | 3028 | 4800 | ORPHA:391428 | HSD10 disease, infantile type | | | | 19 | | |
HP:0030085 | HP:0030085 | Abnormal CSF lactate concentration | 0 | HTRA2 CL E G H | 27429 | 14348 | OMIM:617248 | 3-methylglutaconic aciduria, type VIII | | | | 39 | | |
HP:0030085 | HP:0030085 | Abnormal CSF lactate concentration | 0 | LIPT1 CL E G H | 51601 | 29569 | ORPHA:255241 | Leigh syndrome with leukodystrophy | | | | 21 | | |
HP:0030085 | HP:0030085 | Abnormal CSF lactate concentration | 0 | LONP1 CL E G H | 9361 | 9479 | ORPHA:79243 | Pyruvate dehydrogenase E1-alpha deficiency | | | | 8 | | |
HP:0030085 | HP:0030085 | Abnormal CSF lactate concentration | 0 | LRPPRC CL E G H | 10128 | 15714 | ORPHA:70472 | Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type | | | | 191 | | |
HP:0030085 | HP:0030085 | Abnormal CSF lactate concentration | 0 | LRPPRC CL E G H | 10128 | 15714 | OMIM:220111 | Leigh syndrome, french Canadian type | | | | 191 | | |
HP:0030085 | HP:0030085 | Abnormal CSF lactate concentration | 0 | LYRM4 CL E G H | 57128 | 21365 | OMIM:615595 | Combined oxidative phosphorylation deficiency 19 | | | | 4 | | |
HP:0030085 | HP:0030085 | Abnormal CSF lactate concentration | 0 | LYRM7 CL E G H | 90624 | 28072 | OMIM:615838 | Mitochondrial complex III deficiency, nuclear type 8 | | | | 10 | | |
HP:0030085 | HP:0030085 | Abnormal CSF lactate concentration | 0 | MDH2 CL E G H | 4191 | 6971 | OMIM:617339 | Epileptic encephalopathy, early infantile, 51 | | | | 4 | | |
HP:0030085 | HP:0030085 | Abnormal CSF lactate concentration | 0 | MECP2 CL E G H | 4204 | 6990 | ORPHA:778 | Rett syndrome | | | | 950 | | |
HP:0030085 | HP:0030085 | Abnormal CSF lactate concentration | 0 | MPV17 CL E G H | 4358 | 7224 | OMIM:618400 | Charcot-Marie-Tooth disease, axonal, type 2EE | | | | 56 | | |
HP:0030085 | HP:0030085 | Abnormal CSF lactate concentration | 0 | MRPS34 CL E G H | 65993 | 16618 | OMIM:617664 | Combined oxidative phosphorylation deficiency 32 | | | | 1 | | |
HP:0030085 | HP:0030085 | Abnormal CSF lactate concentration | 0 | MTFMT CL E G H | 123263 | 29666 | OMIM:614947 | Combined oxidative phosphorylation deficiency 15 | | | | 29 | | |
HP:0030085 | HP:0030085 | Abnormal CSF lactate concentration | 0 | MTFMT CL E G H | 123263 | 29666 | ORPHA:255241 | Leigh syndrome with leukodystrophy | | | | 29 | | |
HP:0030085 | HP:0030085 | Abnormal CSF lactate concentration | 0 | NARS2 CL E G H | 79731 | 26274 | OMIM:616239 | Combined oxidative phosphorylation deficiency 24 | | | | 34 | | |
HP:0030085 | HP:0030085 | Abnormal CSF lactate concentration | 0 | NAXE CL E G H | 128240 | 18453 | OMIM:617186 | Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 1 | | | | 9 | | |
HP:0030085 | HP:0030085 | Abnormal CSF lactate concentration | 0 | ND1 CL E G H | 4535 | 7455 | ORPHA:2609 | Isolated complex I deficiency | | | | | | |
HP:0030085 | HP:0030085 | Abnormal CSF lactate concentration | 0 | ND1 CL E G H | 4535 | 7455 | ORPHA:550 | MELAS | | | | | | |
HP:0030085 | HP:0030085 | Abnormal CSF lactate concentration | 0 | ND1 CL E G H | 4535 | 7455 | ORPHA:255210 | Mitochondrial DNA-associated Leigh syndrome | | | | | | |
HP:0030085 | HP:0030085 | Abnormal CSF lactate concentration | 0 | ND2 CL E G H | 4536 | 7456 | ORPHA:2609 | Isolated complex I deficiency | | | | | | |
HP:0030085 | HP:0030085 | Abnormal CSF lactate concentration | 0 | ND2 CL E G H | 4536 | 7456 | ORPHA:255210 | Mitochondrial DNA-associated Leigh syndrome | | | | | | |
HP:0030085 | HP:0030085 | Abnormal CSF lactate concentration | 0 | ND3 CL E G H | 4537 | 7458 | ORPHA:2609 | Isolated complex I deficiency | | | | | | |
HP:0030085 | HP:0030085 | Abnormal CSF lactate concentration | 0 | ND3 CL E G H | 4537 | 7458 | ORPHA:255210 | Mitochondrial DNA-associated Leigh syndrome | | | | | | |
HP:0030085 | HP:0030085 | Abnormal CSF lactate concentration | 0 | ND4 CL E G H | 4538 | 7459 | ORPHA:550 | MELAS | | | | | | |
HP:0030085 | HP:0030085 | Abnormal CSF lactate concentration | 0 | ND4 CL E G H | 4538 | 7459 | ORPHA:255210 | Mitochondrial DNA-associated Leigh syndrome | | | | | | |
HP:0030085 | HP:0030085 | Abnormal CSF lactate concentration | 0 | ND5 CL E G H | 4540 | 7461 | ORPHA:550 | MELAS | | | | | | |
HP:0030085 | HP:0030085 | Abnormal CSF lactate concentration | 0 | ND5 CL E G H | 4540 | 7461 | ORPHA:255210 | Mitochondrial DNA-associated Leigh syndrome | | | | | | |
HP:0030085 | HP:0030085 | Abnormal CSF lactate concentration | 0 | ND6 CL E G H | 4541 | 7462 | ORPHA:550 | MELAS | | | | | | |
HP:0030085 | HP:0030085 | Abnormal CSF lactate concentration | 0 | ND6 CL E G H | 4541 | 7462 | ORPHA:255210 | Mitochondrial DNA-associated Leigh syndrome | | | | | | |
HP:0030085 | HP:0030085 | Abnormal CSF lactate concentration | 0 | NDUFA1 CL E G H | 4694 | 7683 | ORPHA:2609 | Isolated complex I deficiency | | | | 7 | | |
HP:0030085 | HP:0030085 | Abnormal CSF lactate concentration | 0 | NDUFA10 CL E G H | 4705 | 7684 | ORPHA:255241 | Leigh syndrome with leukodystrophy | | | | 91 | | |
HP:0030085 | HP:0030085 | Abnormal CSF lactate concentration | 0 | NDUFA11 CL E G H | 126328 | 20371 | ORPHA:2609 | Isolated complex I deficiency | | | | 32 | | |
HP:0030085 | HP:0030085 | Abnormal CSF lactate concentration | 0 | NDUFA12 CL E G H | 55967 | 23987 | ORPHA:255241 | Leigh syndrome with leukodystrophy | | | | 7 | | |
HP:0030085 | HP:0030085 | Abnormal CSF lactate concentration | 0 | NDUFA12 CL E G H | 55967 | 23987 | OMIM:618244 | Mitochondrial complex I deficiency, nuclear type 23 | | | | 7 | | |
HP:0030085 | HP:0030085 | Abnormal CSF lactate concentration | 0 | NDUFA13 CL E G H | 51079 | 17194 | ORPHA:255241 | Leigh syndrome with leukodystrophy | | | | 3 | | |
HP:0030085 | HP:0030085 | Abnormal CSF lactate concentration | 0 | NDUFA2 CL E G H | 4695 | 7685 | ORPHA:255241 | Leigh syndrome with leukodystrophy | | | | 19 | | |
HP:0030085 | HP:0030085 | Abnormal CSF lactate concentration | 0 | NDUFA4 CL E G H | 4697 | 7687 | ORPHA:255241 | Leigh syndrome with leukodystrophy | | | | 4 | | |
HP:0030085 | HP:0030085 | Abnormal CSF lactate concentration | 0 | NDUFA4 CL E G H | 4697 | 7687 | OMIM:619065 | MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 21; MC4DN21 | | | | 4 | | |
HP:0030085 | HP:0030085 | Abnormal CSF lactate concentration | 0 | NDUFA6 CL E G H | 4700 | 7690 | ORPHA:2609 | Isolated complex I deficiency | | | | 1 | | |
HP:0030085 | HP:0030085 | Abnormal CSF lactate concentration | 0 | NDUFA6 CL E G H | 4700 | 7690 | OMIM:618253 | Mitochondrial complex I deficiency, nuclear type 33 | | | | 1 | | |
HP:0030085 | HP:0030085 | Abnormal CSF lactate concentration | 0 | NDUFA8 CL E G H | 4702 | 7692 | OMIM:619272 | MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 37; MC1DN37 | | | | | | |
HP:0030085 | HP:0030085 | Abnormal CSF lactate concentration | 0 | NDUFA9 CL E G H | 4704 | 7693 | ORPHA:255241 | Leigh syndrome with leukodystrophy | | | | 27 | | |
HP:0030085 | HP:0030085 | Abnormal CSF lactate concentration | 0 | NDUFAF1 CL E G H | 51103 | 18828 | ORPHA:2609 | Isolated complex I deficiency | | | | 40 | | |
HP:0030085 | HP:0030085 | Abnormal CSF lactate concentration | 0 | NDUFAF2 CL E G H | 91942 | 28086 | ORPHA:2609 | Isolated complex I deficiency | | | | 26 | | |
HP:0030085 | HP:0030085 | Abnormal CSF lactate concentration | 0 | NDUFAF2 CL E G H | 91942 | 28086 | ORPHA:255241 | Leigh syndrome with leukodystrophy | | | | 26 | | |
HP:0030085 | HP:0030085 | Abnormal CSF lactate concentration | 0 | NDUFAF3 CL E G H | 25915 | 29918 | ORPHA:2609 | Isolated complex I deficiency | | | | 31 | | |
HP:0030085 | HP:0030085 | Abnormal CSF lactate concentration | 0 | NDUFAF3 CL E G H | 25915 | 29918 | ORPHA:70474 | Leigh syndrome with cardiomyopathy | HP:0040282 - Frequent | | | 31 | | |
HP:0030085 | HP:0030085 | Abnormal CSF lactate concentration | 0 | NDUFAF3 CL E G H | 25915 | 29918 | OMIM:618240 | Mitochondrial complex I deficiency, nuclear type 18 | | | | 31 | | |
HP:0030085 | HP:0030085 | Abnormal CSF lactate concentration | 0 | NDUFAF4 CL E G H | 29078 | 21034 | ORPHA:2609 | Isolated complex I deficiency | | | | 50 | | |
HP:0030085 | HP:0030085 | Abnormal CSF lactate concentration | 0 | NDUFAF5 CL E G H | 79133 | 15899 | ORPHA:2609 | Isolated complex I deficiency | | | | 34 | | |
HP:0030085 | HP:0030085 | Abnormal CSF lactate concentration | 0 | NDUFAF5 CL E G H | 79133 | 15899 | ORPHA:255241 | Leigh syndrome with leukodystrophy | | | | 34 | | |
HP:0030085 | HP:0030085 | Abnormal CSF lactate concentration | 0 | NDUFAF5 CL E G H | 79133 | 15899 | OMIM:618238 | Mitochondrial complex I deficiency, nuclear type 16 | | | | 34 | | |
HP:0030085 | HP:0030085 | Abnormal CSF lactate concentration | 0 | NDUFAF6 CL E G H | 137682 | 28625 | ORPHA:255241 | Leigh syndrome with leukodystrophy | | | | 39 | | |
HP:0030085 | HP:0030085 | Abnormal CSF lactate concentration | 0 | NDUFAF8 CL E G H | 284184 | 33551 | ORPHA:2609 | Isolated complex I deficiency | | | | | | |
HP:0030085 | HP:0030085 | Abnormal CSF lactate concentration | 0 | NDUFB10 CL E G H | 4716 | 7696 | ORPHA:2609 | Isolated complex I deficiency | | | | | | |
HP:0030085 | HP:0030085 | Abnormal CSF lactate concentration | 0 | NDUFB11 CL E G H | 54539 | 20372 | ORPHA:2609 | Isolated complex I deficiency | | | | 3 | | |
HP:0030085 | HP:0030085 | Abnormal CSF lactate concentration | 0 | NDUFB3 CL E G H | 4709 | 7698 | ORPHA:2609 | Isolated complex I deficiency | | | | 9 | | |
HP:0030085 | HP:0030085 | Abnormal CSF lactate concentration | 0 | NDUFB8 CL E G H | 4714 | 7703 | ORPHA:70474 | Leigh syndrome with cardiomyopathy | HP:0040282 - Frequent | | | | | |
HP:0030085 | HP:0030085 | Abnormal CSF lactate concentration | 0 | NDUFB8 CL E G H | 4714 | 7703 | OMIM:618252 | Mitochondrial complex I deficiency, nuclear type 32 | | | | | | |
HP:0030085 | HP:0030085 | Abnormal CSF lactate concentration | 0 | NDUFB9 CL E G H | 4715 | 7704 | ORPHA:2609 | Isolated complex I deficiency | | | | 16 | | |
HP:0030085 | HP:0030085 | Abnormal CSF lactate concentration | 0 | NDUFS1 CL E G H | 4719 | 7707 | ORPHA:2609 | Isolated complex I deficiency | | | | 81 | | |
HP:0030085 | HP:0030085 | Abnormal CSF lactate concentration | 0 | NDUFS1 CL E G H | 4719 | 7707 | ORPHA:255241 | Leigh syndrome with leukodystrophy | | | | 81 | | |
HP:0030085 | HP:0030085 | Abnormal CSF lactate concentration | 0 | NDUFS2 CL E G H | 4720 | 7708 | ORPHA:2609 | Isolated complex I deficiency | | | | 65 | | |
HP:0030085 | HP:0030085 | Abnormal CSF lactate concentration | 0 | NDUFS2 CL E G H | 4720 | 7708 | ORPHA:70474 | Leigh syndrome with cardiomyopathy | HP:0040282 - Frequent | | | 65 | | |
HP:0030085 | HP:0030085 | Abnormal CSF lactate concentration | 0 | NDUFS2 CL E G H | 4720 | 7708 | ORPHA:255241 | Leigh syndrome with leukodystrophy | | | | 65 | | |
HP:0030085 | HP:0030085 | Abnormal CSF lactate concentration | 0 | NDUFS3 CL E G H | 4722 | 7710 | ORPHA:2609 | Isolated complex I deficiency | | | | 22 | | |
HP:0030085 | HP:0030085 | Abnormal CSF lactate concentration | 0 | NDUFS3 CL E G H | 4722 | 7710 | ORPHA:255241 | Leigh syndrome with leukodystrophy | | | | 22 | | |
HP:0030085 | HP:0030085 | Abnormal CSF lactate concentration | 0 | NDUFS3 CL E G H | 4722 | 7710 | OMIM:618230 | Mitochondrial complex I deficiency, nuclear type 8 | | | | 22 | | |
HP:0030085 | HP:0030085 | Abnormal CSF lactate concentration | 0 | NDUFS4 CL E G H | 4724 | 7711 | ORPHA:2609 | Isolated complex I deficiency | | | | 27 | | |
HP:0030085 | HP:0030085 | Abnormal CSF lactate concentration | 0 | NDUFS4 CL E G H | 4724 | 7711 | ORPHA:255241 | Leigh syndrome with leukodystrophy | | | | 27 | | |
HP:0030085 | HP:0030085 | Abnormal CSF lactate concentration | 0 | NDUFS4 CL E G H | 4724 | 7711 | OMIM:252010 | Mitochondrial complex I deficiency, nuclear type 1 | | | | 27 | | |
HP:0030085 | HP:0030085 | Abnormal CSF lactate concentration | 0 | NDUFS6 CL E G H | 4726 | 7713 | ORPHA:2609 | Isolated complex I deficiency | | | | 21 | | |
HP:0030085 | HP:0030085 | Abnormal CSF lactate concentration | 0 | NDUFS7 CL E G H | 374291 | 7714 | ORPHA:2609 | Isolated complex I deficiency | | | | 38 | | |
HP:0030085 | HP:0030085 | Abnormal CSF lactate concentration | 0 | NDUFS7 CL E G H | 374291 | 7714 | ORPHA:255241 | Leigh syndrome with leukodystrophy | | | | 38 | | |
HP:0030085 | HP:0030085 | Abnormal CSF lactate concentration | 0 | NDUFS8 CL E G H | 4728 | 7715 | ORPHA:2609 | Isolated complex I deficiency | | | | 42 | | |
HP:0030085 | HP:0030085 | Abnormal CSF lactate concentration | 0 | NDUFS8 CL E G H | 4728 | 7715 | ORPHA:255241 | Leigh syndrome with leukodystrophy | | | | 42 | | |
HP:0030085 | HP:0030085 | Abnormal CSF lactate concentration | 0 | NDUFV1 CL E G H | 4723 | 7716 | ORPHA:2609 | Isolated complex I deficiency | | | | 74 | | |
HP:0030085 | HP:0030085 | Abnormal CSF lactate concentration | 0 | NDUFV1 CL E G H | 4723 | 7716 | ORPHA:255241 | Leigh syndrome with leukodystrophy | | | | 74 | | |
HP:0030085 | HP:0030085 | Abnormal CSF lactate concentration | 0 | NDUFV1 CL E G H | 4723 | 7716 | OMIM:618225 | Mitochondrial complex I deficiency, nuclear type 4 | | | | 74 | | |
HP:0030085 | HP:0030085 | Abnormal CSF lactate concentration | 0 | NDUFV2 CL E G H | 4729 | 7717 | ORPHA:2609 | Isolated complex I deficiency | | | | 27 | | |
HP:0030085 | HP:0030085 | Abnormal CSF lactate concentration | 0 | NDUFV2 CL E G H | 4729 | 7717 | ORPHA:255241 | Leigh syndrome with leukodystrophy | | | | 27 | | |
HP:0030085 | HP:0030085 | Abnormal CSF lactate concentration | 0 | NFU1 CL E G H | 27247 | 16287 | OMIM:605711 | Multiple mitochondrial dysfunctions syndrome 1 | | | | 34 | | |
HP:0030085 | HP:0030085 | Abnormal CSF lactate concentration | 0 | NUBPL CL E G H | 80224 | 20278 | ORPHA:2609 | Isolated complex I deficiency | | | | 89 | | |
HP:0030085 | HP:0030085 | Abnormal CSF lactate concentration | 0 | NUBPL CL E G H | 80224 | 20278 | OMIM:618242 | Mitochondrial complex I deficiency, nuclear type 21 | | | | 89 | | |
HP:0030085 | HP:0030085 | Abnormal CSF lactate concentration | 0 | PDHA1 CL E G H | 5160 | 8806 | ORPHA:255241 | Leigh syndrome with leukodystrophy | | | | 88 | | |
HP:0030085 | HP:0030085 | Abnormal CSF lactate concentration | 0 | PDHA1 CL E G H | 5160 | 8806 | OMIM:312170 | Pyruvate dehydrogenase e1-alpha deficiency | | | | 88 | | |
HP:0030085 | HP:0030085 | Abnormal CSF lactate concentration | 0 | PDHA1 CL E G H | 5160 | 8806 | ORPHA:79243 | Pyruvate dehydrogenase E1-alpha deficiency | | | | 88 | | |
HP:0030085 | HP:0030085 | Abnormal CSF lactate concentration | 0 | PDHX CL E G H | 8050 | 21350 | ORPHA:255182 | Pyruvate dehydrogenase E3-binding protein deficiency | | | | 98 | | |
HP:0030085 | HP:0030085 | Abnormal CSF lactate concentration | 0 | PET100 CL E G H | 100131801 | 40038 | ORPHA:255241 | Leigh syndrome with leukodystrophy | | | | 6 | | |
HP:0030085 | HP:0030085 | Abnormal CSF lactate concentration | 0 | PET100 CL E G H | 100131801 | 40038 | OMIM:619055 | MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 12; MC4DN12 | | | | 6 | | |
HP:0030085 | HP:0030085 | Abnormal CSF lactate concentration | 0 | PET117 CL E G H | 100303755 | 40045 | OMIM:619063 | MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 19; MC4DN19 | | | | | | |
HP:0030085 | HP:0030085 | Abnormal CSF lactate concentration | 0 | PNPT1 CL E G H | 87178 | 23166 | ORPHA:319514 | Combined oxidative phosphorylation defect type 13 | | | | 60 | | |
HP:0030085 | HP:0030085 | Abnormal CSF lactate concentration | 0 | PNPT1 CL E G H | 87178 | 23166 | OMIM:614932 | Combined oxidative phosphorylation deficiency 13 | | | | 60 | | |
HP:0030085 | HP:0030085 | Abnormal CSF lactate concentration | 0 | RARS2 CL E G H | 57038 | 21406 | OMIM:611523 | Pontocerebellar hypoplasia, type 6 | | | | 93 | | |
HP:0030085 | HP:0030085 | Abnormal CSF lactate concentration | 0 | RMND1 CL E G H | 55005 | 21176 | OMIM:614922 | Combined oxidative phosphorylation deficiency 11 | | | | 26 | | |
HP:0030085 | HP:0030085 | Abnormal CSF lactate concentration | 0 | RRM2B CL E G H | 50484 | 17296 | OMIM:612075 | Mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy) | | | | 125 | | |
HP:0030085 | HP:0030085 | Abnormal CSF lactate concentration | 0 | SCO2 CL E G H | 9997 | 10604 | OMIM:604377 | Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1 | | | | 40 | | |
HP:0030085 | HP:0030085 | Abnormal CSF lactate concentration | 0 | SCO2 CL E G H | 9997 | 10604 | ORPHA:70474 | Leigh syndrome with cardiomyopathy | HP:0040282 - Frequent | | | 40 | | |
HP:0030085 | HP:0030085 | Abnormal CSF lactate concentration | 0 | SDHA CL E G H | 6389 | 10680 | ORPHA:255241 | Leigh syndrome with leukodystrophy | | | | 304 | | |
HP:0030085 | HP:0030085 | Abnormal CSF lactate concentration | 0 | SLC13A3 CL E G H | 64849 | 14430 | OMIM:618384 | Leukoencephalopathy, acute reversible, with increased urinary alpha-ketoglutarate | | | | 2 | | |
HP:0030085 | HP:0030085 | Abnormal CSF lactate concentration | 0 | SLC19A3 CL E G H | 80704 | 16266 | ORPHA:255241 | Leigh syndrome with leukodystrophy | | | | 110 | | |
HP:0030085 | HP:0030085 | Abnormal CSF lactate concentration | 0 | SLC25A19 CL E G H | 60386 | 14409 | OMIM:613710 | Thiamine metabolism dysfunction syndrome 4 (bilateral striatal degenerationand progressive polyneuropathy type) | | | | 36 | | |
HP:0030085 | HP:0030085 | Abnormal CSF lactate concentration | 0 | SLC25A4 CL E G H | 291 | 10990 | OMIM:615418 | Mitochondrial DNA depletion syndrome 12 (cardiomyopathic type) | | | | 68 | | |
HP:0030085 | HP:0030085 | Abnormal CSF lactate concentration | 0 | SLC25A4 CL E G H | 291 | 10990 | OMIM:617184 | Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type), autosomal dominant | | | | 68 | | |
HP:0030085 | HP:0030085 | Abnormal CSF lactate concentration | 0 | SLC2A1 CL E G H | 6513 | 11005 | OMIM:612126 | Glut1 deficiency syndrome 2 | | | | 255 | | |
HP:0030085 | HP:0030085 | Abnormal CSF lactate concentration | 0 | SLC39A8 CL E G H | 64116 | 20862 | ORPHA:468699 | SLC39A8-CDG | | | | 11 | | |
HP:0030085 | HP:0030085 | Abnormal CSF lactate concentration | 0 | SUCLG1 CL E G H | 8802 | 11449 | ORPHA:17 | Fatal infantile lactic acidosis with methylmalonic aciduria | | | | 60 | | |
HP:0030085 | HP:0030085 | Abnormal CSF lactate concentration | 0 | SUCLG1 CL E G H | 8802 | 11449 | OMIM:245400 | Mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria) | | | | 60 | | |
HP:0030085 | HP:0030085 | Abnormal CSF lactate concentration | 0 | SURF1 CL E G H | 6834 | 11474 | ORPHA:70474 | Leigh syndrome with cardiomyopathy | HP:0040282 - Frequent | | | 73 | | |
HP:0030085 | HP:0030085 | Abnormal CSF lactate concentration | 0 | SURF1 CL E G H | 6834 | 11474 | ORPHA:255241 | Leigh syndrome with leukodystrophy | | | | 73 | | |
HP:0030085 | HP:0030085 | Abnormal CSF lactate concentration | 0 | SURF1 CL E G H | 6834 | 11474 | OMIM:220110 | Mitochondrial complex IV deficiency | | | | 73 | | |
HP:0030085 | HP:0030085 | Abnormal CSF lactate concentration | 0 | TACO1 CL E G H | 51204 | 24316 | ORPHA:255241 | Leigh syndrome with leukodystrophy | | | | 23 | | |
HP:0030085 | HP:0030085 | Abnormal CSF lactate concentration | 0 | TIMM50 CL E G H | 92609 | 23656 | OMIM:617698 | 3-methylglutaconic aciduria, type IX | | | | 1 | | |
HP:0030085 | HP:0030085 | Abnormal CSF lactate concentration | 0 | TIMMDC1 CL E G H | 51300 | 1321 | ORPHA:2609 | Isolated complex I deficiency | | | | 1 | | |
HP:0030085 | HP:0030085 | Abnormal CSF lactate concentration | 0 | TMEM126B CL E G H | 55863 | 30883 | ORPHA:2609 | Isolated complex I deficiency | | | | 4 | | |
HP:0030085 | HP:0030085 | Abnormal CSF lactate concentration | 0 | TPK1 CL E G H | 27010 | 17358 | OMIM:614458 | Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type) | | | | 21 | | |
HP:0030085 | HP:0030085 | Abnormal CSF lactate concentration | 0 | TRAPPC12 CL E G H | 51112 | 24284 | ORPHA:500144 | Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome | | | | 2 | | |
HP:0030085 | HP:0030085 | Abnormal CSF lactate concentration | 0 | TRMT10C CL E G H | 54931 | 26022 | OMIM:616974 | Combined oxidative phosphorylation deficiency 30 | | | | 3 | | |
HP:0030085 | HP:0030085 | Abnormal CSF lactate concentration | 0 | TRNF CL E G H | 4558 | 7481 | ORPHA:550 | MELAS | | | | | | |
HP:0030085 | HP:0030085 | Abnormal CSF lactate concentration | 0 | TRNH CL E G H | 4564 | 7487 | ORPHA:550 | MELAS | | | | | | |
HP:0030085 | HP:0030085 | Abnormal CSF lactate concentration | 0 | TRNK CL E G H | 4566 | 7489 | ORPHA:255210 | Mitochondrial DNA-associated Leigh syndrome | | | | | | |
HP:0030085 | HP:0030085 | Abnormal CSF lactate concentration | 0 | TRNL1 CL E G H | 4567 | 7490 | ORPHA:550 | MELAS | | | | | | |
HP:0030085 | HP:0030085 | Abnormal CSF lactate concentration | 0 | TRNL1 CL E G H | 4567 | 7490 | ORPHA:255210 | Mitochondrial DNA-associated Leigh syndrome | | | | | | |
HP:0030085 | HP:0030085 | Abnormal CSF lactate concentration | 0 | TRNN CL E G H | 4570 | 7493 | OMIM:220110 | Mitochondrial complex IV deficiency | | | | | | |
HP:0030085 | HP:0030085 | Abnormal CSF lactate concentration | 0 | TRNQ CL E G H | 4572 | 7495 | ORPHA:550 | MELAS | | | | | | |
HP:0030085 | HP:0030085 | Abnormal CSF lactate concentration | 0 | TRNS1 CL E G H | 4574 | 7497 | ORPHA:550 | MELAS | | | | | | |
HP:0030085 | HP:0030085 | Abnormal CSF lactate concentration | 0 | TRNS1 CL E G H | 4574 | 7497 | OMIM:220110 | Mitochondrial complex IV deficiency | | | | | | |
HP:0030085 | HP:0030085 | Abnormal CSF lactate concentration | 0 | TRNS2 CL E G H | 4575 | 7498 | ORPHA:550 | MELAS | | | | | | |
HP:0030085 | HP:0030085 | Abnormal CSF lactate concentration | 0 | TRNV CL E G H | 4577 | 7500 | ORPHA:255210 | Mitochondrial DNA-associated Leigh syndrome | | | | | | |
HP:0030085 | HP:0030085 | Abnormal CSF lactate concentration | 0 | TRNW CL E G H | 4578 | 7501 | ORPHA:550 | MELAS | | | | | | |
HP:0030085 | HP:0030085 | Abnormal CSF lactate concentration | 0 | TRNW CL E G H | 4578 | 7501 | ORPHA:255210 | Mitochondrial DNA-associated Leigh syndrome | | | | | | |
HP:0030085 | HP:0030085 | Abnormal CSF lactate concentration | 0 | TXN2 CL E G H | 25828 | 17772 | ORPHA:478029 | Combined oxidative phosphorylation defect type 29 | | | | 1 | | |
HP:0030085 | HP:0030085 | Abnormal CSF lactate concentration | 0 | TXN2 CL E G H | 25828 | 17772 | OMIM:616811 | Combined oxidative phosphorylation deficiency 29 | | | | 1 | | |
HP:0030085 | HP:0030085 | Abnormal CSF lactate concentration | 0 | UQCC2 CL E G H | 84300 | 21237 | OMIM:615824 | Mitochondrial complex III deficiency, nuclear type 7 | | | | 7 | | |
HP:0030085 | HP:0030086 | Reduced CSF lactate | 1 | CL E G H | | | | | | | | | | |
HP:0030085 | HP:0002490 | Increased CSF lactate | 1 | AIFM1 CL E G H | 9131 | 8768 | OMIM:300816 | Combined oxidative phosphorylation deficiency 6 | . | | | 60 | | |
HP:0030085 | HP:0002490 | Increased CSF lactate | 1 | AIFM1 CL E G H | 9131 | 8768 | ORPHA:238329 | Severe X-linked mitochondrial encephalomyopathy | HP:0040282 - Frequent | | | 60 | | |
HP:0030085 | HP:0002490 | Increased CSF lactate | 1 | ALDH4A1 CL E G H | 8659 | 406 | ORPHA:79101 | Hyperprolinemia type 2 | HP:0040283 - Occasional | | | 74 | | |
HP:0030085 | HP:0002490 | Increased CSF lactate | 1 | ATP6 CL E G H | 4508 | 7414 | ORPHA:255210 | Mitochondrial DNA-associated Leigh syndrome | HP:0040281 - Very frequent | | | | | |
HP:0030085 | HP:0002490 | Increased CSF lactate | 1 | ATPAF2 CL E G H | 91647 | 18802 | OMIM:604273 | Mitochondrial complex V (atp synthase) deficiency, nuclear type 1 | | | | 32 | | |
HP:0030085 | HP:0002490 | Increased CSF lactate | 1 | CLPB CL E G H | 81570 | 30664 | OMIM:616271 | 3-Methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia | | | | 38 | | |
HP:0030085 | HP:0002490 | Increased CSF lactate | 1 | COA8 CL E G H | 84334 | 20492 | ORPHA:436271 | Non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy | HP:0040282 - Frequent | | | | | |
HP:0030085 | HP:0002490 | Increased CSF lactate | 1 | COQ8A CL E G H | 56997 | 16812 | ORPHA:139485 | Autosomal recessive ataxia due to ubiquinone deficiency | HP:0040283 - Occasional | | | 136 | | |
HP:0030085 | HP:0002490 | Increased CSF lactate | 1 | COX1 CL E G H | 4512 | 7419 | ORPHA:550 | MELAS | HP:0040282 - Frequent | | | | | |
HP:0030085 | HP:0002490 | Increased CSF lactate | 1 | COX10 CL E G H | 1352 | 2260 | OMIM:619046 | MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 3; MC4DN3 | | | | 82 | | |
HP:0030085 | HP:0002490 | Increased CSF lactate | 1 | COX14 CL E G H | 84987 | 28216 | OMIM:619053 | MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 10; MC4DN10 | | | | 4 | | |
HP:0030085 | HP:0002490 | Increased CSF lactate | 1 | COX15 CL E G H | 1355 | 2263 | ORPHA:255241 | Leigh syndrome with leukodystrophy | HP:0040282 - Frequent | | | 104 | | |
HP:0030085 | HP:0002490 | Increased CSF lactate | 1 | COX2 CL E G H | 4513 | 7421 | ORPHA:550 | MELAS | HP:0040282 - Frequent | | | | | |
HP:0030085 | HP:0002490 | Increased CSF lactate | 1 | COX20 CL E G H | 116228 | 26970 | OMIM:619054 | MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 11; MC4DN11 | | | | 25 | | |
HP:0030085 | HP:0002490 | Increased CSF lactate | 1 | COX3 CL E G H | 4514 | 7422 | ORPHA:550 | MELAS | HP:0040282 - Frequent | | | | | |
HP:0030085 | HP:0002490 | Increased CSF lactate | 1 | COX4I1 CL E G H | 1327 | 2265 | OMIM:619060 | MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 16; MC4DN16 | | | | | | |
HP:0030085 | HP:0002490 | Increased CSF lactate | 1 | COX6B1 CL E G H | 1340 | 2280 | OMIM:619051 | MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 7; MC4DN7 | | | | 10 | | |
HP:0030085 | HP:0002490 | Increased CSF lactate | 1 | COX8A CL E G H | 1351 | 2294 | OMIM:619059 | MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 15; MC4DN15 | | | | 1 | | |
HP:0030085 | HP:0002490 | Increased CSF lactate | 1 | DARS2 CL E G H | 55157 | 25538 | ORPHA:137898 | Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome | HP:0040283 - Occasional | | | 60 | | |
HP:0030085 | HP:0002490 | Increased CSF lactate | 1 | DNM1L CL E G H | 10059 | 2973 | OMIM:614388 | Encephalopathy due to defective mitochondrial and peroxisomal fission 1 | | | | 94 | | |
HP:0030085 | HP:0002490 | Increased CSF lactate | 1 | ECHS1 CL E G H | 1892 | 3151 | ORPHA:255241 | Leigh syndrome with leukodystrophy | HP:0040282 - Frequent | | | 33 | | |
HP:0030085 | HP:0002490 | Increased CSF lactate | 1 | ECHS1 CL E G H | 1892 | 3151 | OMIM:616277 | Mitochondrial short-chain enoyl-coa hydratase 1 deficiency | . | | | 33 | | |
HP:0030085 | HP:0002490 | Increased CSF lactate | 1 | FARS2 CL E G H | 10667 | 21062 | OMIM:614946 | Combined oxidative phosphorylation deficiency 14 | | | | 36 | | |
HP:0030085 | HP:0002490 | Increased CSF lactate | 1 | FOXRED1 CL E G H | 55572 | 26927 | ORPHA:2609 | Isolated complex I deficiency | HP:0040281 - Very frequent | | | 61 | | |
HP:0030085 | HP:0002490 | Increased CSF lactate | 1 | FOXRED1 CL E G H | 55572 | 26927 | ORPHA:255241 | Leigh syndrome with leukodystrophy | HP:0040282 - Frequent | | | 61 | | |
HP:0030085 | HP:0002490 | Increased CSF lactate | 1 | GFM1 CL E G H | 85476 | 13780 | OMIM:609060 | Combined oxidative phosphorylation deficiency 1 | . | | | 85 | | |
HP:0030085 | HP:0002490 | Increased CSF lactate | 1 | GFM2 CL E G H | 84340 | 29682 | ORPHA:565624 | Combined oxidative phosphorylation defect type 39 | HP:0040282 - Frequent | | | 43 | | |
HP:0030085 | HP:0002490 | Increased CSF lactate | 1 | GFM2 CL E G H | 84340 | 29682 | OMIM:618397 | Combined oxidative phosphorylation deficiency 39 | . | | | 43 | | |
HP:0030085 | HP:0002490 | Increased CSF lactate | 1 | HPDL CL E G H | 84842 | 28242 | OMIM:619026 | NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE SPASTICITY AND BRAIN WHITE MATTER ABNORMALITIES; NEDSWMA | | | | | | |
HP:0030085 | HP:0002490 | Increased CSF lactate | 1 | HSD17B10 CL E G H | 3028 | 4800 | ORPHA:391428 | HSD10 disease, infantile type | HP:0040281 - Very frequent | | | 19 | | |
HP:0030085 | HP:0002490 | Increased CSF lactate | 1 | HTRA2 CL E G H | 27429 | 14348 | OMIM:617248 | 3-methylglutaconic aciduria, type VIII | . | | | 39 | | |
HP:0030085 | HP:0002490 | Increased CSF lactate | 1 | LIPT1 CL E G H | 51601 | 29569 | ORPHA:255241 | Leigh syndrome with leukodystrophy | HP:0040282 - Frequent | | | 21 | | |
HP:0030085 | HP:0002490 | Increased CSF lactate | 1 | LONP1 CL E G H | 9361 | 9479 | ORPHA:79243 | Pyruvate dehydrogenase E1-alpha deficiency | HP:0040281 - Very frequent | | | 8 | | |
HP:0030085 | HP:0002490 | Increased CSF lactate | 1 | LRPPRC CL E G H | 10128 | 15714 | ORPHA:70472 | Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type | HP:0040281 - Very frequent | | | 191 | | |
HP:0030085 | HP:0002490 | Increased CSF lactate | 1 | LRPPRC CL E G H | 10128 | 15714 | OMIM:220111 | Leigh syndrome, french Canadian type | . | | | 191 | | |
HP:0030085 | HP:0002490 | Increased CSF lactate | 1 | LYRM4 CL E G H | 57128 | 21365 | OMIM:615595 | Combined oxidative phosphorylation deficiency 19 | | | | 4 | | |
HP:0030085 | HP:0002490 | Increased CSF lactate | 1 | LYRM7 CL E G H | 90624 | 28072 | OMIM:615838 | Mitochondrial complex III deficiency, nuclear type 8 | | | | 10 | | |
HP:0030085 | HP:0002490 | Increased CSF lactate | 1 | MDH2 CL E G H | 4191 | 6971 | OMIM:617339 | Epileptic encephalopathy, early infantile, 51 | . | | | 4 | | |
HP:0030085 | HP:0002490 | Increased CSF lactate | 1 | MECP2 CL E G H | 4204 | 6990 | ORPHA:778 | Rett syndrome | HP:0040283 - Occasional | | | 950 | | |
HP:0030085 | HP:0002490 | Increased CSF lactate | 1 | MPV17 CL E G H | 4358 | 7224 | OMIM:618400 | Charcot-Marie-Tooth disease, axonal, type 2EE | HP:0040284 - Very rare | | | 56 | | |
HP:0030085 | HP:0002490 | Increased CSF lactate | 1 | MRPS34 CL E G H | 65993 | 16618 | OMIM:617664 | Combined oxidative phosphorylation deficiency 32 | . | | | 1 | | |
HP:0030085 | HP:0002490 | Increased CSF lactate | 1 | MTFMT CL E G H | 123263 | 29666 | OMIM:614947 | Combined oxidative phosphorylation deficiency 15 | . | | | 29 | | |
HP:0030085 | HP:0002490 | Increased CSF lactate | 1 | MTFMT CL E G H | 123263 | 29666 | ORPHA:255241 | Leigh syndrome with leukodystrophy | HP:0040282 - Frequent | | | 29 | | |
HP:0030085 | HP:0002490 | Increased CSF lactate | 1 | NARS2 CL E G H | 79731 | 26274 | OMIM:616239 | Combined oxidative phosphorylation deficiency 24 | . | | | 34 | | |
HP:0030085 | HP:0002490 | Increased CSF lactate | 1 | NAXE CL E G H | 128240 | 18453 | OMIM:617186 | Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 1 | . | | | 9 | | |
HP:0030085 | HP:0002490 | Increased CSF lactate | 1 | ND1 CL E G H | 4535 | 7455 | ORPHA:2609 | Isolated complex I deficiency | HP:0040281 - Very frequent | | | | | |
HP:0030085 | HP:0002490 | Increased CSF lactate | 1 | ND1 CL E G H | 4535 | 7455 | ORPHA:550 | MELAS | HP:0040282 - Frequent | | | | | |
HP:0030085 | HP:0002490 | Increased CSF lactate | 1 | ND1 CL E G H | 4535 | 7455 | ORPHA:255210 | Mitochondrial DNA-associated Leigh syndrome | HP:0040281 - Very frequent | | | | | |
HP:0030085 | HP:0002490 | Increased CSF lactate | 1 | ND2 CL E G H | 4536 | 7456 | ORPHA:2609 | Isolated complex I deficiency | HP:0040281 - Very frequent | | | | | |
HP:0030085 | HP:0002490 | Increased CSF lactate | 1 | ND2 CL E G H | 4536 | 7456 | ORPHA:255210 | Mitochondrial DNA-associated Leigh syndrome | HP:0040281 - Very frequent | | | | | |
HP:0030085 | HP:0002490 | Increased CSF lactate | 1 | ND3 CL E G H | 4537 | 7458 | ORPHA:2609 | Isolated complex I deficiency | HP:0040281 - Very frequent | | | | | |
HP:0030085 | HP:0002490 | Increased CSF lactate | 1 | ND3 CL E G H | 4537 | 7458 | ORPHA:255210 | Mitochondrial DNA-associated Leigh syndrome | HP:0040281 - Very frequent | | | | | |
HP:0030085 | HP:0002490 | Increased CSF lactate | 1 | ND4 CL E G H | 4538 | 7459 | ORPHA:550 | MELAS | HP:0040282 - Frequent | | | | | |
HP:0030085 | HP:0002490 | Increased CSF lactate | 1 | ND4 CL E G H | 4538 | 7459 | ORPHA:255210 | Mitochondrial DNA-associated Leigh syndrome | HP:0040281 - Very frequent | | | | | |
HP:0030085 | HP:0002490 | Increased CSF lactate | 1 | ND5 CL E G H | 4540 | 7461 | ORPHA:550 | MELAS | HP:0040282 - Frequent | | | | | |
HP:0030085 | HP:0002490 | Increased CSF lactate | 1 | ND5 CL E G H | 4540 | 7461 | ORPHA:255210 | Mitochondrial DNA-associated Leigh syndrome | HP:0040281 - Very frequent | | | | | |
HP:0030085 | HP:0002490 | Increased CSF lactate | 1 | ND6 CL E G H | 4541 | 7462 | ORPHA:550 | MELAS | HP:0040282 - Frequent | | | | | |
HP:0030085 | HP:0002490 | Increased CSF lactate | 1 | ND6 CL E G H | 4541 | 7462 | ORPHA:255210 | Mitochondrial DNA-associated Leigh syndrome | HP:0040281 - Very frequent | | | | | |
HP:0030085 | HP:0002490 | Increased CSF lactate | 1 | NDUFA1 CL E G H | 4694 | 7683 | ORPHA:2609 | Isolated complex I deficiency | HP:0040281 - Very frequent | | | 7 | | |
HP:0030085 | HP:0002490 | Increased CSF lactate | 1 | NDUFA10 CL E G H | 4705 | 7684 | ORPHA:255241 | Leigh syndrome with leukodystrophy | HP:0040282 - Frequent | | | 91 | | |
HP:0030085 | HP:0002490 | Increased CSF lactate | 1 | NDUFA11 CL E G H | 126328 | 20371 | ORPHA:2609 | Isolated complex I deficiency | HP:0040281 - Very frequent | | | 32 | | |
HP:0030085 | HP:0002490 | Increased CSF lactate | 1 | NDUFA12 CL E G H | 55967 | 23987 | ORPHA:255241 | Leigh syndrome with leukodystrophy | HP:0040282 - Frequent | | | 7 | | |
HP:0030085 | HP:0002490 | Increased CSF lactate | 1 | NDUFA12 CL E G H | 55967 | 23987 | OMIM:618244 | Mitochondrial complex I deficiency, nuclear type 23 | | | | 7 | | |
HP:0030085 | HP:0002490 | Increased CSF lactate | 1 | NDUFA13 CL E G H | 51079 | 17194 | ORPHA:255241 | Leigh syndrome with leukodystrophy | HP:0040282 - Frequent | | | 3 | | |
HP:0030085 | HP:0002490 | Increased CSF lactate | 1 | NDUFA2 CL E G H | 4695 | 7685 | ORPHA:255241 | Leigh syndrome with leukodystrophy | HP:0040282 - Frequent | | | 19 | | |
HP:0030085 | HP:0002490 | Increased CSF lactate | 1 | NDUFA4 CL E G H | 4697 | 7687 | ORPHA:255241 | Leigh syndrome with leukodystrophy | HP:0040282 - Frequent | | | 4 | | |
HP:0030085 | HP:0002490 | Increased CSF lactate | 1 | NDUFA4 CL E G H | 4697 | 7687 | OMIM:619065 | MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 21; MC4DN21 | | | | 4 | | |
HP:0030085 | HP:0002490 | Increased CSF lactate | 1 | NDUFA6 CL E G H | 4700 | 7690 | ORPHA:2609 | Isolated complex I deficiency | HP:0040281 - Very frequent | | | 1 | | |
HP:0030085 | HP:0002490 | Increased CSF lactate | 1 | NDUFA6 CL E G H | 4700 | 7690 | OMIM:618253 | Mitochondrial complex I deficiency, nuclear type 33 | | | | 1 | | |
HP:0030085 | HP:0002490 | Increased CSF lactate | 1 | NDUFA8 CL E G H | 4702 | 7692 | OMIM:619272 | MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 37; MC1DN37 | | | | | | |
HP:0030085 | HP:0002490 | Increased CSF lactate | 1 | NDUFA9 CL E G H | 4704 | 7693 | ORPHA:255241 | Leigh syndrome with leukodystrophy | HP:0040282 - Frequent | | | 27 | | |
HP:0030085 | HP:0002490 | Increased CSF lactate | 1 | NDUFAF1 CL E G H | 51103 | 18828 | ORPHA:2609 | Isolated complex I deficiency | HP:0040281 - Very frequent | | | 40 | | |
HP:0030085 | HP:0002490 | Increased CSF lactate | 1 | NDUFAF2 CL E G H | 91942 | 28086 | ORPHA:2609 | Isolated complex I deficiency | HP:0040281 - Very frequent | | | 26 | | |
HP:0030085 | HP:0002490 | Increased CSF lactate | 1 | NDUFAF2 CL E G H | 91942 | 28086 | ORPHA:255241 | Leigh syndrome with leukodystrophy | HP:0040282 - Frequent | | | 26 | | |
HP:0030085 | HP:0002490 | Increased CSF lactate | 1 | NDUFAF3 CL E G H | 25915 | 29918 | ORPHA:2609 | Isolated complex I deficiency | HP:0040281 - Very frequent | | | 31 | | |
HP:0030085 | HP:0002490 | Increased CSF lactate | 1 | NDUFAF3 CL E G H | 25915 | 29918 | ORPHA:70474 | Leigh syndrome with cardiomyopathy | HP:0040282 - Frequent | | | 31 | | |
HP:0030085 | HP:0002490 | Increased CSF lactate | 1 | NDUFAF3 CL E G H | 25915 | 29918 | OMIM:618240 | Mitochondrial complex I deficiency, nuclear type 18 | | | | 31 | | |
HP:0030085 | HP:0002490 | Increased CSF lactate | 1 | NDUFAF4 CL E G H | 29078 | 21034 | ORPHA:2609 | Isolated complex I deficiency | HP:0040281 - Very frequent | | | 50 | | |
HP:0030085 | HP:0002490 | Increased CSF lactate | 1 | NDUFAF5 CL E G H | 79133 | 15899 | ORPHA:2609 | Isolated complex I deficiency | HP:0040281 - Very frequent | | | 34 | | |
HP:0030085 | HP:0002490 | Increased CSF lactate | 1 | NDUFAF5 CL E G H | 79133 | 15899 | ORPHA:255241 | Leigh syndrome with leukodystrophy | HP:0040282 - Frequent | | | 34 | | |
HP:0030085 | HP:0002490 | Increased CSF lactate | 1 | NDUFAF5 CL E G H | 79133 | 15899 | OMIM:618238 | Mitochondrial complex I deficiency, nuclear type 16 | | | | 34 | | |
HP:0030085 | HP:0002490 | Increased CSF lactate | 1 | NDUFAF6 CL E G H | 137682 | 28625 | ORPHA:255241 | Leigh syndrome with leukodystrophy | HP:0040282 - Frequent | | | 39 | | |
HP:0030085 | HP:0002490 | Increased CSF lactate | 1 | NDUFAF8 CL E G H | 284184 | 33551 | ORPHA:2609 | Isolated complex I deficiency | HP:0040281 - Very frequent | | | | | |
HP:0030085 | HP:0002490 | Increased CSF lactate | 1 | NDUFB10 CL E G H | 4716 | 7696 | ORPHA:2609 | Isolated complex I deficiency | HP:0040281 - Very frequent | | | | | |
HP:0030085 | HP:0002490 | Increased CSF lactate | 1 | NDUFB11 CL E G H | 54539 | 20372 | ORPHA:2609 | Isolated complex I deficiency | HP:0040281 - Very frequent | | | 3 | | |
HP:0030085 | HP:0002490 | Increased CSF lactate | 1 | NDUFB3 CL E G H | 4709 | 7698 | ORPHA:2609 | Isolated complex I deficiency | HP:0040281 - Very frequent | | | 9 | | |
HP:0030085 | HP:0002490 | Increased CSF lactate | 1 | NDUFB8 CL E G H | 4714 | 7703 | ORPHA:70474 | Leigh syndrome with cardiomyopathy | HP:0040282 - Frequent | | | | | |
HP:0030085 | HP:0002490 | Increased CSF lactate | 1 | NDUFB8 CL E G H | 4714 | 7703 | OMIM:618252 | Mitochondrial complex I deficiency, nuclear type 32 | . | | | | | |
HP:0030085 | HP:0002490 | Increased CSF lactate | 1 | NDUFB9 CL E G H | 4715 | 7704 | ORPHA:2609 | Isolated complex I deficiency | HP:0040281 - Very frequent | | | 16 | | |
HP:0030085 | HP:0002490 | Increased CSF lactate | 1 | NDUFS1 CL E G H | 4719 | 7707 | ORPHA:2609 | Isolated complex I deficiency | HP:0040281 - Very frequent | | | 81 | | |
HP:0030085 | HP:0002490 | Increased CSF lactate | 1 | NDUFS1 CL E G H | 4719 | 7707 | ORPHA:255241 | Leigh syndrome with leukodystrophy | HP:0040282 - Frequent | | | 81 | | |
HP:0030085 | HP:0002490 | Increased CSF lactate | 1 | NDUFS2 CL E G H | 4720 | 7708 | ORPHA:2609 | Isolated complex I deficiency | HP:0040281 - Very frequent | | | 65 | | |
HP:0030085 | HP:0002490 | Increased CSF lactate | 1 | NDUFS2 CL E G H | 4720 | 7708 | ORPHA:70474 | Leigh syndrome with cardiomyopathy | HP:0040282 - Frequent | | | 65 | | |
HP:0030085 | HP:0002490 | Increased CSF lactate | 1 | NDUFS2 CL E G H | 4720 | 7708 | ORPHA:255241 | Leigh syndrome with leukodystrophy | HP:0040282 - Frequent | | | 65 | | |
HP:0030085 | HP:0002490 | Increased CSF lactate | 1 | NDUFS3 CL E G H | 4722 | 7710 | ORPHA:2609 | Isolated complex I deficiency | HP:0040281 - Very frequent | | | 22 | | |
HP:0030085 | HP:0002490 | Increased CSF lactate | 1 | NDUFS3 CL E G H | 4722 | 7710 | ORPHA:255241 | Leigh syndrome with leukodystrophy | HP:0040282 - Frequent | | | 22 | | |
HP:0030085 | HP:0002490 | Increased CSF lactate | 1 | NDUFS3 CL E G H | 4722 | 7710 | OMIM:618230 | Mitochondrial complex I deficiency, nuclear type 8 | | | | 22 | | |
HP:0030085 | HP:0002490 | Increased CSF lactate | 1 | NDUFS4 CL E G H | 4724 | 7711 | ORPHA:2609 | Isolated complex I deficiency | HP:0040281 - Very frequent | | | 27 | | |
HP:0030085 | HP:0002490 | Increased CSF lactate | 1 | NDUFS4 CL E G H | 4724 | 7711 | ORPHA:255241 | Leigh syndrome with leukodystrophy | HP:0040282 - Frequent | | | 27 | | |
HP:0030085 | HP:0002490 | Increased CSF lactate | 1 | NDUFS4 CL E G H | 4724 | 7711 | OMIM:252010 | Mitochondrial complex I deficiency, nuclear type 1 | | | | 27 | | |
HP:0030085 | HP:0002490 | Increased CSF lactate | 1 | NDUFS6 CL E G H | 4726 | 7713 | ORPHA:2609 | Isolated complex I deficiency | HP:0040281 - Very frequent | | | 21 | | |
HP:0030085 | HP:0002490 | Increased CSF lactate | 1 | NDUFS7 CL E G H | 374291 | 7714 | ORPHA:2609 | Isolated complex I deficiency | HP:0040281 - Very frequent | | | 38 | | |
HP:0030085 | HP:0002490 | Increased CSF lactate | 1 | NDUFS7 CL E G H | 374291 | 7714 | ORPHA:255241 | Leigh syndrome with leukodystrophy | HP:0040282 - Frequent | | | 38 | | |
HP:0030085 | HP:0002490 | Increased CSF lactate | 1 | NDUFS8 CL E G H | 4728 | 7715 | ORPHA:2609 | Isolated complex I deficiency | HP:0040281 - Very frequent | | | 42 | | |
HP:0030085 | HP:0002490 | Increased CSF lactate | 1 | NDUFS8 CL E G H | 4728 | 7715 | ORPHA:255241 | Leigh syndrome with leukodystrophy | HP:0040282 - Frequent | | | 42 | | |
HP:0030085 | HP:0002490 | Increased CSF lactate | 1 | NDUFV1 CL E G H | 4723 | 7716 | ORPHA:2609 | Isolated complex I deficiency | HP:0040281 - Very frequent | | | 74 | | |
HP:0030085 | HP:0002490 | Increased CSF lactate | 1 | NDUFV1 CL E G H | 4723 | 7716 | ORPHA:255241 | Leigh syndrome with leukodystrophy | HP:0040282 - Frequent | | | 74 | | |
HP:0030085 | HP:0002490 | Increased CSF lactate | 1 | NDUFV1 CL E G H | 4723 | 7716 | OMIM:618225 | Mitochondrial complex I deficiency, nuclear type 4 | | | | 74 | | |
HP:0030085 | HP:0002490 | Increased CSF lactate | 1 | NDUFV2 CL E G H | 4729 | 7717 | ORPHA:2609 | Isolated complex I deficiency | HP:0040281 - Very frequent | | | 27 | | |
HP:0030085 | HP:0002490 | Increased CSF lactate | 1 | NDUFV2 CL E G H | 4729 | 7717 | ORPHA:255241 | Leigh syndrome with leukodystrophy | HP:0040282 - Frequent | | | 27 | | |
HP:0030085 | HP:0002490 | Increased CSF lactate | 1 | NFU1 CL E G H | 27247 | 16287 | OMIM:605711 | Multiple mitochondrial dysfunctions syndrome 1 | | | | 34 | | |
HP:0030085 | HP:0002490 | Increased CSF lactate | 1 | NUBPL CL E G H | 80224 | 20278 | ORPHA:2609 | Isolated complex I deficiency | HP:0040281 - Very frequent | | | 89 | | |
HP:0030085 | HP:0002490 | Increased CSF lactate | 1 | NUBPL CL E G H | 80224 | 20278 | OMIM:618242 | Mitochondrial complex I deficiency, nuclear type 21 | | | | 89 | | |
HP:0030085 | HP:0002490 | Increased CSF lactate | 1 | PDHA1 CL E G H | 5160 | 8806 | ORPHA:255241 | Leigh syndrome with leukodystrophy | HP:0040282 - Frequent | | | 88 | | |
HP:0030085 | HP:0002490 | Increased CSF lactate | 1 | PDHA1 CL E G H | 5160 | 8806 | ORPHA:79243 | Pyruvate dehydrogenase E1-alpha deficiency | HP:0040281 - Very frequent | | | 88 | | |
HP:0030085 | HP:0002490 | Increased CSF lactate | 1 | PDHA1 CL E G H | 5160 | 8806 | OMIM:312170 | Pyruvate dehydrogenase e1-alpha deficiency | . | | | 88 | | |
HP:0030085 | HP:0002490 | Increased CSF lactate | 1 | PDHX CL E G H | 8050 | 21350 | ORPHA:255182 | Pyruvate dehydrogenase E3-binding protein deficiency | HP:0040281 - Very frequent | | | 98 | | |
HP:0030085 | HP:0002490 | Increased CSF lactate | 1 | PET100 CL E G H | 100131801 | 40038 | ORPHA:255241 | Leigh syndrome with leukodystrophy | HP:0040282 - Frequent | | | 6 | | |
HP:0030085 | HP:0002490 | Increased CSF lactate | 1 | PET100 CL E G H | 100131801 | 40038 | OMIM:619055 | MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 12; MC4DN12 | | | | 6 | | |
HP:0030085 | HP:0002490 | Increased CSF lactate | 1 | PET117 CL E G H | 100303755 | 40045 | OMIM:619063 | MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 19; MC4DN19 | | | | | | |
HP:0030085 | HP:0002490 | Increased CSF lactate | 1 | PNPT1 CL E G H | 87178 | 23166 | ORPHA:319514 | Combined oxidative phosphorylation defect type 13 | HP:0040282 - Frequent | | | 60 | | |
HP:0030085 | HP:0002490 | Increased CSF lactate | 1 | PNPT1 CL E G H | 87178 | 23166 | OMIM:614932 | Combined oxidative phosphorylation deficiency 13 | | | | 60 | | |
HP:0030085 | HP:0002490 | Increased CSF lactate | 1 | RARS2 CL E G H | 57038 | 21406 | OMIM:611523 | Pontocerebellar hypoplasia, type 6 | . | | | 93 | | |
HP:0030085 | HP:0002490 | Increased CSF lactate | 1 | RMND1 CL E G H | 55005 | 21176 | OMIM:614922 | Combined oxidative phosphorylation deficiency 11 | . | | | 26 | | |
HP:0030085 | HP:0002490 | Increased CSF lactate | 1 | RRM2B CL E G H | 50484 | 17296 | OMIM:612075 | Mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy) | | | | 125 | | |
HP:0030085 | HP:0002490 | Increased CSF lactate | 1 | SCO2 CL E G H | 9997 | 10604 | OMIM:604377 | Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1 | . | | | 40 | | |
HP:0030085 | HP:0002490 | Increased CSF lactate | 1 | SCO2 CL E G H | 9997 | 10604 | ORPHA:70474 | Leigh syndrome with cardiomyopathy | HP:0040282 - Frequent | | | 40 | | |
HP:0030085 | HP:0002490 | Increased CSF lactate | 1 | SDHA CL E G H | 6389 | 10680 | ORPHA:255241 | Leigh syndrome with leukodystrophy | HP:0040282 - Frequent | | | 304 | | |
HP:0030085 | HP:0002490 | Increased CSF lactate | 1 | SLC13A3 CL E G H | 64849 | 14430 | OMIM:618384 | Leukoencephalopathy, acute reversible, with increased urinary alpha-ketoglutarate | . | | | 2 | | |
HP:0030085 | HP:0002490 | Increased CSF lactate | 1 | SLC19A3 CL E G H | 80704 | 16266 | ORPHA:255241 | Leigh syndrome with leukodystrophy | HP:0040282 - Frequent | | | 110 | | |
HP:0030085 | HP:0002490 | Increased CSF lactate | 1 | SLC25A19 CL E G H | 60386 | 14409 | OMIM:613710 | Thiamine metabolism dysfunction syndrome 4 (bilateral striatal degenerationand progressive polyneuropathy type) | . | | | 36 | | |
HP:0030085 | HP:0002490 | Increased CSF lactate | 1 | SLC25A4 CL E G H | 291 | 10990 | OMIM:615418 | Mitochondrial DNA depletion syndrome 12 (cardiomyopathic type) | | | | 68 | | |
HP:0030085 | HP:0002490 | Increased CSF lactate | 1 | SLC25A4 CL E G H | 291 | 10990 | OMIM:617184 | Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type), autosomal dominant | | | | 68 | | |
HP:0030085 | HP:0002490 | Increased CSF lactate | 1 | SLC2A1 CL E G H | 6513 | 11005 | OMIM:612126 | Glut1 deficiency syndrome 2 | | | | 255 | | |
HP:0030085 | HP:0002490 | Increased CSF lactate | 1 | SLC39A8 CL E G H | 64116 | 20862 | ORPHA:468699 | SLC39A8-CDG | HP:0040283 - Occasional | | | 11 | | |
HP:0030085 | HP:0002490 | Increased CSF lactate | 1 | SUCLG1 CL E G H | 8802 | 11449 | ORPHA:17 | Fatal infantile lactic acidosis with methylmalonic aciduria | HP:0040282 - Frequent | | | 60 | | |
HP:0030085 | HP:0002490 | Increased CSF lactate | 1 | SUCLG1 CL E G H | 8802 | 11449 | OMIM:245400 | Mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria) | | | | 60 | | |
HP:0030085 | HP:0002490 | Increased CSF lactate | 1 | SURF1 CL E G H | 6834 | 11474 | ORPHA:70474 | Leigh syndrome with cardiomyopathy | HP:0040282 - Frequent | | | 73 | | |
HP:0030085 | HP:0002490 | Increased CSF lactate | 1 | SURF1 CL E G H | 6834 | 11474 | ORPHA:255241 | Leigh syndrome with leukodystrophy | HP:0040282 - Frequent | | | 73 | | |
HP:0030085 | HP:0002490 | Increased CSF lactate | 1 | SURF1 CL E G H | 6834 | 11474 | OMIM:220110 | Mitochondrial complex IV deficiency | . | | | 73 | | |
HP:0030085 | HP:0002490 | Increased CSF lactate | 1 | TACO1 CL E G H | 51204 | 24316 | ORPHA:255241 | Leigh syndrome with leukodystrophy | HP:0040282 - Frequent | | | 23 | | |
HP:0030085 | HP:0002490 | Increased CSF lactate | 1 | TIMM50 CL E G H | 92609 | 23656 | OMIM:617698 | 3-methylglutaconic aciduria, type IX | | | | 1 | | |
HP:0030085 | HP:0002490 | Increased CSF lactate | 1 | TIMMDC1 CL E G H | 51300 | 1321 | ORPHA:2609 | Isolated complex I deficiency | HP:0040281 - Very frequent | | | 1 | | |
HP:0030085 | HP:0002490 | Increased CSF lactate | 1 | TMEM126B CL E G H | 55863 | 30883 | ORPHA:2609 | Isolated complex I deficiency | HP:0040281 - Very frequent | | | 4 | | |
HP:0030085 | HP:0002490 | Increased CSF lactate | 1 | TPK1 CL E G H | 27010 | 17358 | OMIM:614458 | Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type) | | | | 21 | | |
HP:0030085 | HP:0002490 | Increased CSF lactate | 1 | TRAPPC12 CL E G H | 51112 | 24284 | ORPHA:500144 | Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome | HP:0040283 - Occasional | | | 2 | | |
HP:0030085 | HP:0002490 | Increased CSF lactate | 1 | TRMT10C CL E G H | 54931 | 26022 | OMIM:616974 | Combined oxidative phosphorylation deficiency 30 | . | | | 3 | | |
HP:0030085 | HP:0002490 | Increased CSF lactate | 1 | TRNF CL E G H | 4558 | 7481 | ORPHA:550 | MELAS | HP:0040282 - Frequent | | | | | |
HP:0030085 | HP:0002490 | Increased CSF lactate | 1 | TRNH CL E G H | 4564 | 7487 | ORPHA:550 | MELAS | HP:0040282 - Frequent | | | | | |
HP:0030085 | HP:0002490 | Increased CSF lactate | 1 | TRNK CL E G H | 4566 | 7489 | ORPHA:255210 | Mitochondrial DNA-associated Leigh syndrome | HP:0040281 - Very frequent | | | | | |
HP:0030085 | HP:0002490 | Increased CSF lactate | 1 | TRNL1 CL E G H | 4567 | 7490 | ORPHA:550 | MELAS | HP:0040282 - Frequent | | | | | |
HP:0030085 | HP:0002490 | Increased CSF lactate | 1 | TRNL1 CL E G H | 4567 | 7490 | ORPHA:255210 | Mitochondrial DNA-associated Leigh syndrome | HP:0040281 - Very frequent | | | | | |
HP:0030085 | HP:0002490 | Increased CSF lactate | 1 | TRNN CL E G H | 4570 | 7493 | OMIM:220110 | Mitochondrial complex IV deficiency | . | | | | | |
HP:0030085 | HP:0002490 | Increased CSF lactate | 1 | TRNQ CL E G H | 4572 | 7495 | ORPHA:550 | MELAS | HP:0040282 - Frequent | | | | | |
HP:0030085 | HP:0002490 | Increased CSF lactate | 1 | TRNS1 CL E G H | 4574 | 7497 | ORPHA:550 | MELAS | HP:0040282 - Frequent | | | | | |
HP:0030085 | HP:0002490 | Increased CSF lactate | 1 | TRNS1 CL E G H | 4574 | 7497 | OMIM:220110 | Mitochondrial complex IV deficiency | . | | | | | |
HP:0030085 | HP:0002490 | Increased CSF lactate | 1 | TRNS2 CL E G H | 4575 | 7498 | ORPHA:550 | MELAS | HP:0040282 - Frequent | | | | | |
HP:0030085 | HP:0002490 | Increased CSF lactate | 1 | TRNV CL E G H | 4577 | 7500 | ORPHA:255210 | Mitochondrial DNA-associated Leigh syndrome | HP:0040281 - Very frequent | | | | | |
HP:0030085 | HP:0002490 | Increased CSF lactate | 1 | TRNW CL E G H | 4578 | 7501 | ORPHA:550 | MELAS | HP:0040282 - Frequent | | | | | |
HP:0030085 | HP:0002490 | Increased CSF lactate | 1 | TRNW CL E G H | 4578 | 7501 | ORPHA:255210 | Mitochondrial DNA-associated Leigh syndrome | HP:0040281 - Very frequent | | | | | |
HP:0030085 | HP:0002490 | Increased CSF lactate | 1 | TXN2 CL E G H | 25828 | 17772 | ORPHA:478029 | Combined oxidative phosphorylation defect type 29 | HP:0040281 - Very frequent | | | 1 | | |
HP:0030085 | HP:0002490 | Increased CSF lactate | 1 | TXN2 CL E G H | 25828 | 17772 | OMIM:616811 | Combined oxidative phosphorylation deficiency 29 | | | | 1 | | |
HP:0030085 | HP:0002490 | Increased CSF lactate | 1 | UQCC2 CL E G H | 84300 | 21237 | OMIM:615824 | Mitochondrial complex III deficiency, nuclear type 7 | | | | 7 | | |