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:0001285 | HP:0001285 | Spastic tetraparesis | 0 | AASS CL E G H | 10157 | 17366 | ORPHA:2203 | Hyperlysinemia | HP:0040283 - Occasional | | | 15 | | |
HP:0001285 | HP:0001285 | Spastic tetraparesis | 0 | ABCD1 CL E G H | 215 | 61 | ORPHA:139396 | X-linked cerebral adrenoleukodystrophy | HP:0040283 - Occasional | | | 135 | | |
HP:0001285 | HP:0001285 | Spastic tetraparesis | 0 | ADAR CL E G H | 103 | 225 | ORPHA:225154 | Familial infantile bilateral striatal necrosis | HP:0040282 - Frequent | | | 116 | | |
HP:0001285 | HP:0001285 | Spastic tetraparesis | 0 | AFF3 CL E G H | 3899 | 6473 | OMIM:619297 | KINSSHIP SYNDROME; KINS | | | | 1 | | |
HP:0001285 | HP:0001285 | Spastic tetraparesis | 0 | ALG3 CL E G H | 10195 | 23056 | ORPHA:79321 | ALG3-CDG | HP:0040283 - Occasional | | | 37 | | |
HP:0001285 | HP:0001285 | Spastic tetraparesis | 0 | ALS2 CL E G H | 57679 | 443 | OMIM:205100 | Amyotrophic lateral sclerosis 2, juvenile | . | | | 114 | | |
HP:0001285 | HP:0001285 | Spastic tetraparesis | 0 | ALS2 CL E G H | 57679 | 443 | ORPHA:247604 | Juvenile primary lateral sclerosis | HP:0040281 - Very frequent | | | 114 | | |
HP:0001285 | HP:0001285 | Spastic tetraparesis | 0 | ALS2 CL E G H | 57679 | 443 | OMIM:606353 | Primary lateral sclerosis, juvenile | . | | | 114 | | |
HP:0001285 | HP:0001285 | Spastic tetraparesis | 0 | APOE CL E G H | 348 | 613 | OMIM:607822 | Alzheimer disease 3 | . | | | 39 | | |
HP:0001285 | HP:0001285 | Spastic tetraparesis | 0 | ARX CL E G H | 170302 | 18060 | OMIM:308350 | Developmental and epileptic encephalopathy 1 | | | | 166 | | |
HP:0001285 | HP:0001285 | Spastic tetraparesis | 0 | ATP6 CL E G H | 4508 | 7414 | ORPHA:225154 | Familial infantile bilateral striatal necrosis | HP:0040282 - Frequent | | | | | |
HP:0001285 | HP:0001285 | Spastic tetraparesis | 0 | ATP6V1A CL E G H | 523 | 851 | OMIM:618012 | Epileptic encephalopathy, infantile or early childhood, 3 | . | | | 3 | | |
HP:0001285 | HP:0001285 | Spastic tetraparesis | 0 | AUH CL E G H | 549 | 890 | ORPHA:67046 | 3-methylglutaconic aciduria type 1 | HP:0040283 - Occasional | | | 49 | | |
HP:0001285 | HP:0001285 | Spastic tetraparesis | 0 | COA8 CL E G H | 84334 | 20492 | OMIM:619061 | MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 17; MC4DN17 | | | | | | |
HP:0001285 | HP:0001285 | Spastic tetraparesis | 0 | COA8 CL E G H | 84334 | 20492 | ORPHA:436271 | Non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy | HP:0040283 - Occasional | | | | | |
HP:0001285 | HP:0001285 | Spastic tetraparesis | 0 | DYM CL E G H | 54808 | 21317 | ORPHA:239 | Dyggve-Melchior-Clausen disease | HP:0040283 - Occasional | | | 65 | | |
HP:0001285 | HP:0001285 | Spastic tetraparesis | 0 | EARS2 CL E G H | 124454 | 29419 | OMIM:614924 | Combined oxidative phosphorylation deficiency 12 | . | | | 80 | | |
HP:0001285 | HP:0001285 | Spastic tetraparesis | 0 | EIF2S3 CL E G H | 1968 | 3267 | OMIM:300148 | Mehmo syndrome | . | | | 8 | | |
HP:0001285 | HP:0001285 | Spastic tetraparesis | 0 | ERLIN2 CL E G H | 11160 | 1356 | ORPHA:247604 | Juvenile primary lateral sclerosis | HP:0040281 - Very frequent | | | 18 | | |
HP:0001285 | HP:0001285 | Spastic tetraparesis | 0 | EXOSC8 CL E G H | 11340 | 17035 | OMIM:616081 | Pontocerebellar hypoplasia, type 1C | . | | | 4 | | |
HP:0001285 | HP:0001285 | Spastic tetraparesis | 0 | FA2H CL E G H | 79152 | 21197 | ORPHA:171629 | Autosomal recessive spastic paraplegia type 35 | HP:0040282 - Frequent | | | 76 | | |
HP:0001285 | HP:0001285 | Spastic tetraparesis | 0 | FA2H CL E G H | 79152 | 21197 | OMIM:612319 | Spastic paraplegia 35, autosomal recessive | . | | | 76 | | |
HP:0001285 | HP:0001285 | Spastic tetraparesis | 0 | FAR1 CL E G H | 84188 | 26222 | ORPHA:438178 | Fatty acyl-CoA reductase 1 deficiency | HP:0040282 - Frequent | | | 7 | | |
HP:0001285 | HP:0001285 | Spastic tetraparesis | 0 | FAR1 CL E G H | 84188 | 26222 | OMIM:616154 | PEROXISOMAL FATTY ACYL-CoA REDUCTASE 1 DISORDER; PFCRD | | | | 7 | | |
HP:0001285 | HP:0001285 | Spastic tetraparesis | 0 | FBLN1 CL E G H | 2192 | 3600 | ORPHA:404451 | FBLN1-related developmental delay-central nervous system anomaly-syndactyly syndrome | HP:0040282 - Frequent | | | 12 | | |
HP:0001285 | HP:0001285 | Spastic tetraparesis | 0 | GM2A CL E G H | 2760 | 4367 | OMIM:272750 | Gm2-Gangliosidosis, ab variant | . | | | 69 | | |
HP:0001285 | HP:0001285 | Spastic tetraparesis | 0 | GSS CL E G H | 2937 | 4624 | OMIM:266130 | Glutathione synthetase deficiency | . | | | 39 | | |
HP:0001285 | HP:0001285 | Spastic tetraparesis | 0 | GUF1 CL E G H | 60558 | 25799 | OMIM:617065 | Epileptic encephalopathy, early infantile, 40 | | | | 2 | | |
HP:0001285 | HP:0001285 | Spastic tetraparesis | 0 | HSD17B10 CL E G H | 3028 | 4800 | ORPHA:391428 | HSD10 disease, infantile type | HP:0040283 - Occasional | | | 19 | | |
HP:0001285 | HP:0001285 | Spastic tetraparesis | 0 | IFIH1 CL E G H | 64135 | 18873 | OMIM:615846 | Aicardi-Goutieres syndrome 7 | . | | | 28 | | |
HP:0001285 | HP:0001285 | Spastic tetraparesis | 0 | KCNJ6 CL E G H | 3763 | 6267 | OMIM:614098 | Keppen-Lubinsky syndrome | . | | | 3 | | |
HP:0001285 | HP:0001285 | Spastic tetraparesis | 0 | KCNJ6 CL E G H | 3763 | 6267 | ORPHA:435628 | Keppen-Lubinsky syndrome | HP:0040282 - Frequent | | | 3 | | |
HP:0001285 | HP:0001285 | Spastic tetraparesis | 0 | KCNQ2 CL E G H | 3785 | 6296 | OMIM:613720 | Epileptic encephalopathy, early infantile, 7 | . | | | 528 | | |
HP:0001285 | HP:0001285 | Spastic tetraparesis | 0 | L2HGDH CL E G H | 79944 | 20499 | OMIM:236792 | L-2-Hydroxyglutaric aciduria | . | | | 34 | | |
HP:0001285 | HP:0001285 | Spastic tetraparesis | 0 | L2HGDH CL E G H | 79944 | 20499 | ORPHA:79314 | L-2-hydroxyglutaric aciduria | HP:0040282 - Frequent | | | 34 | | |
HP:0001285 | HP:0001285 | Spastic tetraparesis | 0 | LIPT1 CL E G H | 51601 | 29569 | OMIM:616299 | Lipoyltransferase 1 deficiency | . | | | 21 | | |
HP:0001285 | HP:0001285 | Spastic tetraparesis | 0 | LIPT2 CL E G H | 387787 | 37216 | OMIM:617668 | Encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities | . | | | 2 | | |
HP:0001285 | HP:0001285 | Spastic tetraparesis | 0 | LMNB1 CL E G H | 4001 | 6637 | OMIM:619179 | MICROCEPHALY 26, PRIMARY, AUTOSOMAL DOMINANT; MCPH26 | | | | 44 | | |
HP:0001285 | HP:0001285 | Spastic tetraparesis | 0 | LMX1B CL E G H | 4010 | 6654 | ORPHA:495818 | 9q33.3q34.11 microdeletion syndrome | HP:0040283 - Occasional | | | 165 | | |
HP:0001285 | HP:0001285 | Spastic tetraparesis | 0 | LYRM7 CL E G H | 90624 | 28072 | OMIM:615838 | Mitochondrial complex III deficiency, nuclear type 8 | . | | | 10 | | |
HP:0001285 | HP:0001285 | Spastic tetraparesis | 0 | MFSD2A CL E G H | 84879 | 25897 | OMIM:616486 | Microcephaly 15, primary, autosomal recessive | . | | | 5 | | |
HP:0001285 | HP:0001285 | Spastic tetraparesis | 0 | MOCS1 CL E G H | 4337 | 7190 | OMIM:252150 | Molybdenum cofactor deficiency, complementation group A | . | | | 96 | | |
HP:0001285 | HP:0001285 | Spastic tetraparesis | 0 | MRM2 CL E G H | 29960 | 16352 | OMIM:618567 | MITOCHONDRIAL DNA DEPLETION SYNDROME 17; MTDPS17 | | | | | | |
HP:0001285 | HP:0001285 | Spastic tetraparesis | 0 | NFU1 CL E G H | 27247 | 16287 | OMIM:605711 | Multiple mitochondrial dysfunctions syndrome 1 | | | | 34 | | |
HP:0001285 | HP:0001285 | Spastic tetraparesis | 0 | NUP62 CL E G H | 23636 | 8066 | ORPHA:225154 | Familial infantile bilateral striatal necrosis | HP:0040282 - Frequent | | | 7 | | |
HP:0001285 | HP:0001285 | Spastic tetraparesis | 0 | PAFAH1B1 CL E G H | 5048 | 8574 | OMIM:607432 | Lissencephaly 1 | . | | | 231 | | |
HP:0001285 | HP:0001285 | Spastic tetraparesis | 0 | PHACTR1 CL E G H | 221692 | 20990 | OMIM:618298 | DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 70; DEE70 | | | | 1 | | |
HP:0001285 | HP:0001285 | Spastic tetraparesis | 0 | PLA2G6 CL E G H | 8398 | 9039 | ORPHA:35069 | Infantile neuroaxonal dystrophy | HP:0040282 - Frequent | | | 133 | | |
HP:0001285 | HP:0001285 | Spastic tetraparesis | 0 | PLP1 CL E G H | 5354 | 9086 | ORPHA:280219 | Pelizaeus-Merzbacher disease, classic form | HP:0040282 - Frequent | | | 60 | | |
HP:0001285 | HP:0001285 | Spastic tetraparesis | 0 | PLP1 CL E G H | 5354 | 9086 | ORPHA:280224 | Pelizaeus-Merzbacher disease, transitional form | HP:0040282 - Frequent | | | 60 | | |
HP:0001285 | HP:0001285 | Spastic tetraparesis | 0 | PRDM8 CL E G H | 56978 | 13993 | ORPHA:324290 | Early-onset Lafora body disease | HP:0040283 - Occasional | | | 1 | | |
HP:0001285 | HP:0001285 | Spastic tetraparesis | 0 | PRPS1 CL E G H | 5631 | 9462 | ORPHA:423479 | X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome | HP:0040282 - Frequent | | | 49 | | |
HP:0001285 | HP:0001285 | Spastic tetraparesis | 0 | PRUNE1 CL E G H | 58497 | 13420 | OMIM:617481 | Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies | . | | | 8 | | |
HP:0001285 | HP:0001285 | Spastic tetraparesis | 0 | PRUNE1 CL E G H | 58497 | 13420 | ORPHA:544469 | PRUNE1-related neurological syndrome | | | | 8 | | |
HP:0001285 | HP:0001285 | Spastic tetraparesis | 0 | PSAP CL E G H | 5660 | 9498 | OMIM:249900 | Metachromatic leukodystrophy due to saposin B deficiency | . | | | 81 | | |
HP:0001285 | HP:0001285 | Spastic tetraparesis | 0 | PSAT1 CL E G H | 29968 | 19129 | ORPHA:284417 | Phosphoserine aminotransferase deficiency, infantile/juvenile form | HP:0040283 - Occasional | | | 27 | | |
HP:0001285 | HP:0001285 | Spastic tetraparesis | 0 | PSEN1 CL E G H | 5663 | 9508 | OMIM:607822 | Alzheimer disease 3 | . | | | 241 | | |
HP:0001285 | HP:0001285 | Spastic tetraparesis | 0 | REEP1 CL E G H | 65055 | 25786 | ORPHA:101011 | Autosomal dominant spastic paraplegia type 31 | HP:0040283 - Occasional | | | 87 | | |
HP:0001285 | HP:0001285 | Spastic tetraparesis | 0 | RERE CL E G H | 473 | 9965 | OMIM:616975 | Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart | | | | 16 | | |
HP:0001285 | HP:0001285 | Spastic tetraparesis | 0 | RNU7-1 CL E G H | 100147744 | 34033 | OMIM:619487 | AICARDI-GOUTIERES SYNDROME 9; AGS9 | | | | | | |
HP:0001285 | HP:0001285 | Spastic tetraparesis | 0 | SDHA CL E G H | 6389 | 10680 | ORPHA:3208 | Isolated succinate-CoQ reductase deficiency | HP:0040283 - Occasional | | | 304 | | |
HP:0001285 | HP:0001285 | Spastic tetraparesis | 0 | SDHAF1 CL E G H | 644096 | 33867 | ORPHA:3208 | Isolated succinate-CoQ reductase deficiency | HP:0040283 - Occasional | | | 16 | | |
HP:0001285 | HP:0001285 | Spastic tetraparesis | 0 | SDHB CL E G H | 6390 | 10681 | ORPHA:3208 | Isolated succinate-CoQ reductase deficiency | HP:0040283 - Occasional | | | 237 | | |
HP:0001285 | HP:0001285 | Spastic tetraparesis | 0 | SDHD CL E G H | 6392 | 10683 | ORPHA:3208 | Isolated succinate-CoQ reductase deficiency | HP:0040283 - Occasional | | | 129 | | |
HP:0001285 | HP:0001285 | Spastic tetraparesis | 0 | SLC18A2 CL E G H | 6571 | 10935 | ORPHA:352649 | Brain dopamine-serotonin vesicular transport disease | HP:0040281 - Very frequent | | | 2 | | |
HP:0001285 | HP:0001285 | Spastic tetraparesis | 0 | SLC35A2 CL E G H | 7355 | 11022 | ORPHA:356961 | SLC35A2-CDG | HP:0040283 - Occasional | | | 27 | | |
HP:0001285 | HP:0001285 | Spastic tetraparesis | 0 | SMC1A CL E G H | 8243 | 11111 | OMIM:301044 | DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 85 WITH OR WITHOUT MIDLINE BRAIN DEFECTS; DEE85 | | | | 135 | | |
HP:0001285 | HP:0001285 | Spastic tetraparesis | 0 | SOD1 CL E G H | 6647 | 11179 | OMIM:618598 | SPASTIC TETRAPLEGIA AND AXIAL HYPOTONIA, PROGRESSIVE; STAHP | | | | 53 | | |
HP:0001285 | HP:0001285 | Spastic tetraparesis | 0 | SOX4 CL E G H | 6659 | 11200 | OMIM:618506 | Coffin-Siris syndrome 10 | HP:0040284 - Very rare | | | | | |
HP:0001285 | HP:0001285 | Spastic tetraparesis | 0 | STAMBP CL E G H | 10617 | 16950 | OMIM:614261 | Microcephaly-Capillary malformation syndrome | . | | | 24 | | |
HP:0001285 | HP:0001285 | Spastic tetraparesis | 0 | STXBP1 CL E G H | 6812 | 11444 | ORPHA:495818 | 9q33.3q34.11 microdeletion syndrome | HP:0040283 - Occasional | | | 237 | | |
HP:0001285 | HP:0001285 | Spastic tetraparesis | 0 | TACO1 CL E G H | 51204 | 24316 | OMIM:619052 | MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 8; MC4DN8 | | | | 23 | | |
HP:0001285 | HP:0001285 | Spastic tetraparesis | 0 | TBCE CL E G H | 6905 | 11582 | ORPHA:496756 | Early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndrome | HP:0040283 - Occasional | | | 52 | | |
HP:0001285 | HP:0001285 | Spastic tetraparesis | 0 | TMEM222 CL E G H | 84065 | 25363 | OMIM:619470 | NEURODEVELOPMENTAL DISORDER WITH MOTOR AND SPEECH DELAY AND BEHAVIORAL ABNORMALITIES; NEDMOSBA | | | | | | |
HP:0001285 | HP:0001285 | Spastic tetraparesis | 0 | TNR CL E G H | 7143 | 11953 | OMIM:619653 | NEURODEVELOPMENTAL DISORDER, NONPROGRESSIVE, WITH SPASTICITY AND TRANSIENT OPISTHOTONUS; NEDSTO | | | | 7 | | |
HP:0001285 | HP:0001285 | Spastic tetraparesis | 0 | TRAPPC4 CL E G H | 51399 | 19943 | OMIM:618741 | NEURODEVELOPMENTAL DISORDER WITH EPILEPSY, SPASTICITY, AND BRAIN ATROPHY; NEDESBA | | | | 1 | | |
HP:0001285 | HP:0001285 | Spastic tetraparesis | 0 | WDR62 CL E G H | 284403 | 24502 | OMIM:604317 | Microcephaly 2, primary, autosomal recessive, with or without cortical malformations | . | | | 224 | | |