All diseases

284 entries on 3 pages. Showing entries 1 - 100.
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ID     
AscendingAbbreviation     
Name     
OMIM ID     
Individuals     
Phenotypes     
Associated with genes
Associated tissues
Disease features
00433 161700 NECROTIZING ENCEPHALOMYELOPATHY, SUBACUTE, OF LEIGH, ADULT 161700 0 0 - - -
00656 165200 OPTIC ATROPHY WITH DEMYELINATING DISEASE OF CNS, 165200 165200 0 0 - - -
00464 201460 MOVED TO 201475 201460 0 0 ACADVL - -
00402 203750 ALPHA-METHYLACETOACETIC ACIDURIA 203750 0 0 ACAT1 - -
00438 212160 CARNITINE DEFICIENCY, MYOPATHIC 212160 0 0 - - -
00403 212350 SENGERS SYNDROME 212350 0 0 AGK - -
00012 220110 Mitochondrial complex IV deficiency, 220110 (3) 220110 1 0 APOPT1, COA5, COA7, COX10, COX14, COX20, COX6B1, COX8A, FASTKD2, MT-CO1, MT-CO2, MT-CO3, MT-TL1, MT-TN, PET100, SCO1, SURF1, TACO1 - -
00404 221745 DEAFNESS, SENSORINEURAL, AUTOSOMAL-MITOCHONDRIAL TYPE 221745 0 0 - - -
00653 233690 Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative 233690 0 0 CYBA - -
00644 233700 Chronic granulomatous disease, autosomal recessive cytochrome b-positive, type 1 233700 0 0 NCF1 - -
00645 233710 Chronic granulomatous disease, autosomal recessive cytochrome b-positive, type 2 233710 0 0 NCF2 - -
00085 237300 Carbamoylphosphate synthetase I deficiency;CPS I DEFICIENCY 237300 0 0 CPS1 - -
00405 238710 HYPERLYSINEMIA DUE TO DEFECT IN LYSINE TRANSPORT INTO MITOCHONDRIA 238710 0 0 - - -
00106 238970 Hyperornithinemia-hyperammonemia-homocitrullinemia syndrome, 238970 (3) 238970 0 0 SLC25A15 - -
00038 245400 Mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria), 245400 (3) 245400 0 0 SUCLG1 - -
00650 250800 Deficiency of cytochrome-b5 reductase 250800 0 0 CYB5R3 - -
00407 251945 MITOCHONDRIAL MYOPATHY WITH A DEFECT IN MITOCHONDRIAL-PROTEIN TRANSPORT 251945 0 0 - - -
00408 251950 MITOCHONDRIAL MYOPATHY WITH LACTIC ACIDOSIS 251950 0 0 , PNPLA8 - -
00011 252010 Mitochondrial complex I deficiency, 252010 (3) 252010 0 0 FOXRED1, MT-ND1, MT-ND2, MT-ND3, MT-ND4, MT-TN, NDUFA1, NDUFA11, NDUFAF1, NDUFAF2, NDUFAF3, NDUFAF4, NDUFAF5, NDUFB11, NDUFB3, NDUFB9, NDUFS1, NDUFS2, NDUFS3, NDUFS4, 7 more - -
00016 252011 Mitochondrial complex II deficiency, 252011 (3) 252011 0 0 SDHA, SDHAF1, SDHD - -
00486 255110 CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LATE-ONSET 255110 0 0 CPT2 - -
00440 255120 CARNITINE PALMITOYLTRANSFERASE I DEFICIENCY 255120 0 0 , CPT1A - -
00409 255140 MYOPATHY WITH GIANT ABNORMAL MITOCHONDRIA 255140 0 0 - - -
00118 258450 Progressive external ophthalmoplegia, autosomal recessive, 258450 (3) 258450 0 0 POLG - -
00410 258470 OPHTHALMOPLEGIC NEUROMUSCULAR DISORDER WITH ABNORMAL MITOCHONDRIA 258470 0 0 - - -
00046 261650 PEPCK deficiency, mitochondrial, 261650 (1) 261650 0 0 , PCK2 - -
00398 266150 Pyruvate carboxylase deficiency, 266150 (3) 266150 0 0 PC - -
00119 267500 Reticular dysgenesis, 267500 (3) 267500 0 0 AK2 - -
00526 300438 HSD10 mitochondrial disease, 300438 (3) 300438 0 0 HSD17B10 - -
00575 301020 MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 12; MC1DN12 301020 0 0 NDUFA1 - -
00576 301021 MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 30; MC1DN30 301021 0 0 NDUFB11 - -
00390 308930 Leigh syndrome, X-linked, 308930 (3) 308930 0 0 PDHA1 - -
00151 500000 CARDIOMYOPATHY, INFANTILE HISTIOCYTOID 500000 0 0 MT-CYB - -
00146 500002 MITOCHONDRIAL MYOPATHY WITH DIABETES 500002 0 0 , MT-TE - -
00157 500003 STRIATONIGRAL DEGENERATION, INFANTILE, MITOCHONDRIAL 500003 0 0 MT-ATP6 - -
00160 500004 RETINITIS PIGMENTOSA-DEAFNESS SYNDROME 500004 0 0 CDH23, CLRN1, DFNB31, GPR98, MT-TS2, MYO7A, PCDH15, USH1C, USH1G, USH2A - -
00148 500005 HYPOMAGNESEMIA, HYPERTENSION, AND HYPERCHOLESTEROLEMIA, MITOCHONDRIAL, caused by a mutation in the mitochondrial tRNA(Ile) gene (590045). MT-TI 500005 0 0 MT-TI - -
00570 500006 500006 CARDIOMYOPATHY, INFANTILE HYPERTROPHIC 500006 0 0 MT-ATP6, MT-ATP8 - Evidence that infantile hypertrophic cardiomyopathy can be caused by mutation in the overlapping MTATP6 (516060) and MTATP8 (516070) genes. ▼ Molecular Genetics In 4 unrelated infants who presented with isolated hypertrophic cardiomyopathy and congestive heart failure and who later developed severe feeding difficulties and failure to thrive, Ware et al. (2009) identified an 8528T-C transition, resulting in concurrent changes in the overlapping MTATP6 and MTATP8 genes, M1T (516060.0010) and W55R (516070.0003), respectively. Ware et al. (2009) stated that this was the first description of a mitochondrial mutation affecting both complex V genes.
00159 500008 DEAFNESS, NONSYNDROMIC SENSORINEURAL, MITOCHONDRIAL 500008 0 0 , MT-ND1, MT-RNR1, MT-TH, MT-TI, MT-TS1 - -
00571 500010 500010 ATAXIA AND POLYNEUROPATHY, ADULT-ONSET 500010 0 0 MT-ATP6 - Evidence that adult-onset ataxia and polyneuropathy can be caused by mutation in the MTATP6 gene (516060).
00577 500014 MITOCHONDRIAL COMPLEX I DEFICIENCY, MITOCHONDRIAL TYPE 1; MC1DM1 500014 0 0 MT-ND3 - -
00655 500015 Mitochondrial complex v (atp synthase) deficiency, mitochondrial type 1 500015 0 0 MT-ATP6 - -
00147 502000 AGING aging represents a phenotype seemingly related to changes in mitochondrial DNA 502000 0 0 - - -
00161 502500 ALZHEIMER DISEASE, SUSCEPTIBILITY TO, MITOCHONDRIAL 502500 0 0 - - -
00145 515000 CHLORAMPHENICOL TOXICITY;ANEMIA, CHLORAMPHENICOL-INDUCED;CHLORAMPHENICOL RESISTANCE, INCLUDED 515000 0 0 , MT-RNR2 - -
00164 520100 DIARRHEA, CHRONIC, WITH VILLOUS ATROPHY Links 520100 0 0 - - -
00166 550500 MYOGLOBINURIA, RECURRENT 550500 0 0 MT-CO1 - -
00171 551200 NEPHROPATHY, CHRONIC TUBULOINTERSTITIAL 551200 0 0 - - -
00167 553000 ONCOCYTOMA 553000 0 0 , MT-ND6 - -
00170 556500 PARKINSON DISEASE, MITOCHONDRIAL 556500 0 0 MT-TK, NDUFV2 - -
00169 557000 PEARSON MARROW-PANCREAS SYNDROME 557000 0 0 - - -
00144 560000 RENAL TUBULOPATHY, DIABETES MELLITUS, AND CEREBELLAR ATAXIA, caused by duplication of mitochondrial DNA 560000 0 0 - - -
00051 580000 DEAFNESS, AMINOGLYCOSIDE-INDUCED;STREPTOMYCIN-INDUCED 580000 0 0 , MT-CO1, MT-RNR1, TRMU - -
00156 598500 WOLFRAM SYNDROME, MITOCHONDRIAL FORM 598500 0 0 - - -
00412 600706 PROXIMAL MYOPATHY WITH FOCAL DEPLETION OF MITOCHONDRIA 600706 0 0 - - -
00566 600851 Mitochondrial import-stimulating factor 600851 0 0 - - -
00114 601665 Obesity, autosomal dominant, 601665 (3) 601665 0 0 , ADRB2, ADRB3, AGRP, CARTPT, ENPP1, GHRL, KANK1, LEPR, MC4R, more than 10, MRAP2, MT-CYB, NR0B2, POMC, PPARG, PPARGC1B, PYY, SDC3, SIM1, UCP1, UCP3 - -
00567 602252 Mitochondrial intermembrane space protein tim12, yeast, homolog of 602252 0 0 - - -
00104 603358 GRACILE syndrome, 603358 (3) 603358 0 0 BCS1L - -
00023 604273 Mitochondrial complex V (ATP synthase) deficiency, nuclear type 1, 604273 (3) 604273 0 0 ATPAF2 - -
00089 605814 Citrullinemia, type II, neonatal-onset, 605814 (3) 605814 0 0 SLC25A13 - -
00499 605899 GCE GLYCINE ENCEPHALOPATHY; GCE 605899 0 0 AMT, GCSH, GLDC - -
00105 605911 HMG-CoA synthase-2 deficiency, 605911 (3);MITOCHONDRIAL HMG-CoA SYNTHASE DEFICIENCY 605911 0 0 HMGCS2 - -
00416 606407 HYPOTONIA-CYSTINURIA SYNDROME 606407 0 0 - - -
00649 608158 CoQ-responsive OXPHOS deficiency 608158 0 0 - - -
00487 608836 CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LETHAL NEONATAL 608836 0 0 CPT2 - -
00651 608902 Disorder due cytochrome p450 CYP2D6 variant 608902 0 0 - - -
00417 609015 TRIFUNCTIONAL PROTEIN DEFICIENCY 609015 0 0 HADHA, HADHB - -
00047 609283 Progressive external ophthalmoplegia with mitochondrial DNA deletions 3, 609283 (3) 609283 0 0 SLC25A4 - -
00048 610131 Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4, 610131 (3) 610131 0 0 POLG2 - -
00081 610251 Alcohol sensitivity, acute, 610251 (3) 610251 0 0 ALDH2 - -
00040 610773 Mitochondrial phosphate carrier deficiency, 610773 (3) 610773 0 0 SLC25A3 - -
00418 611105 LEUKOENCEPHALOPATHY WITH BRAINSTEM AND SPINAL CORD INVOLVEMENT AND 611105 0 0 DARS2 - -
00419 611126 ACYL-CoA DEHYDROGENASE FAMILY, MEMBER 9, DEFICIENCY OF 611126 0 0 ACAD9 - -
00034 612073 Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria), 612073 (3) 612073 0 0 SUCLA2 - -
00037 612075 Mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy), 612075 (3) 612075 0 0 RRM2B - -
00107 612949 Hypomyelination, global cerebral, 612949 (3) 612949 0 0 SLC25A12 - -
00045 613076 Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay, 613076 (3) 613076 0 0 GFER - -
00652 613571 Disordered steroidogenesis due to cytochrome p450 oxidoreductase deficiency 613571 0 0 POR - -
00101 613657 D-2-hydroxyglutaric aciduria 2, 613657 (3) 613657 0 0 IDH2 - -
00654 613960 Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type III 613960 0 0 NCF4 - -
00024 614052 Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2, 614052 (3) 614052 0 0 TMEM70 - -
00025 614053 Mitochondrial complex V (ATP synthase) deficiency, nuclear type 3, 614053 (3) 614053 0 0 ATP5E, ATP5F1E - -
00014 614388 Encephalopahty, lethal, due to defective mitochondrial peroxisomal fission, 614388 (3) 614388 0 0 DNM1L - -
00401 614520 ENCEPHALOMYOPATHY, MITOCHONDRIAL, DUE TO VOLTAGE-DEPENDENT ANION CHANNEL DEFICIENCY 614520 0 0 - - -
00511 614924 Combined oxidative phosphorylation deficiency 12, 614924 (3) 614924 0 0 EARS2 - -
00512 614932 Combined oxidative phosphorylation deficiency 13, 614932 (3) 614932 0 0 PNPT1 - -
00641 615119 Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2 615119 0 0 COX15 - -
00010 615228 Mitochondrial complex (ATP synthase) deficiency, nuclear type 4, 615228 (3) 615228 0 0 ATP5A1, ATP5F1A - -
00513 615440 Combined oxidative phosphorylation deficiency 17, 615440 (3) 615440 0 0 ELAC2 - -
00514 615578 Combined oxidative phosphorylation deficiency 18, 615578 (3) 615578 0 0 SFXN4 - -
00500 615595 ?Combined oxidative phosphorylation deficiency 19, 615595 (3) 615595 0 0 LYRM4 - -
00507 615824 ?Mitochondrial complex III deficiency, nuclear type 7, 615824 (3) 615824 0 0 UQCC2 - -
00528 615838 Mitochondrial complex III deficiency, nuclear type 8, 615838 (3) 615838 0 0 LYRM7 - -
00515 615917 Combined oxidative phosphorylation deficiency 20, 615917 (3) 615917 0 0 VARS2 - -
00501 615918 ?Combined oxidative phosphorylation deficiency 21, 615918 (3) 615918 0 0 TARS2 - -
00502 616045 ?Combined oxidative phosphorylation deficiency 22, 616045 (3) 616045 0 0 ATP5A1, ATP5F1A - -
00508 616111 ?Mitochondrial complex III deficiency, nuclear type 9, 616111 (3) 616111 0 0 UQCC3 - -
00516 616198 Combined oxidative phosphorylation deficiency 23, 616198 (3) 616198 0 0 GTPBP3 - -
00509 616209 ?Myopathy, isolated mitochondrial, autosomal dominant, 616209 (3) 616209 0 0 CHCHD10 - -
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