Human Phenotype Ontology 
Grandparent Node:
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Weakness due to upper motor neuron dysfunction (HP:0010549)help
Parent Node:
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Tetraplegia/tetraparesis (HP:0030182)help
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Tetraparesis (HP:0002273)help
Term ID: 2273
Name: Tetraparesis
Synonym: Quadriparesis
Definition: Weakness of all four limbs.
Comments:
Reference: HP:0002273
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandTetraplegia (HP:0002445) help
InputHPO IDHPO termDistanceGeneGene id entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0002273HP:0002273Tetraparesis0AASS CL E G H1015717366ORPHA:2203Hyperlysinemia15
HP:0002273HP:0002273Tetraparesis0ABCD1 CL E G H21561ORPHA:139396X-linked cerebral adrenoleukodystrophy135
HP:0002273HP:0002273Tetraparesis0ADAR CL E G H103225ORPHA:225154Familial infantile bilateral striatal necrosisHP:0040282 - Frequent116
HP:0002273HP:0002273Tetraparesis0AFF3 CL E G H38996473OMIM:619297KINSSHIP SYNDROME; KINS1
HP:0002273HP:0002273Tetraparesis0AGTPBP1 CL E G H2328717258OMIM:618276Neurodegeneration, childhood-onset, with cerebellar atrophy.1
HP:0002273HP:0002273Tetraparesis0AIFM1 CL E G H91318768OMIM:300232Spondyloepimetaphyseal dysplasia, X-linked, with mental deterioration60
HP:0002273HP:0002273Tetraparesis0ALG3 CL E G H1019523056ORPHA:79321ALG3-CDG37
HP:0002273HP:0002273Tetraparesis0ALS2 CL E G H57679443OMIM:205100Amyotrophic lateral sclerosis 2, juvenile114
HP:0002273HP:0002273Tetraparesis0ALS2 CL E G H57679443ORPHA:247604Juvenile primary lateral sclerosis114
HP:0002273HP:0002273Tetraparesis0ALS2 CL E G H57679443OMIM:606353Primary lateral sclerosis, juvenile114
HP:0002273HP:0002273Tetraparesis0APOE CL E G H348613OMIM:607822Alzheimer disease 339
HP:0002273HP:0002273Tetraparesis0ARFGEF2 CL E G H1056415853OMIM:608097Periventricular heterotopia with microcephaly, autosomal recessive.179
HP:0002273HP:0002273Tetraparesis0ARX CL E G H17030218060OMIM:308350Developmental and epileptic encephalopathy 1166
HP:0002273HP:0002273Tetraparesis0ATP1A2 CL E G H477800ORPHA:2131Alternating hemiplegia of childhoodHP:0040282 - Frequent239
HP:0002273HP:0002273Tetraparesis0ATP1A3 CL E G H478801ORPHA:2131Alternating hemiplegia of childhoodHP:0040282 - Frequent150
HP:0002273HP:0002273Tetraparesis0ATP6 CL E G H45087414ORPHA:225154Familial infantile bilateral striatal necrosisHP:0040282 - Frequent
HP:0002273HP:0002273Tetraparesis0ATP6V1A CL E G H523851OMIM:618012Epileptic encephalopathy, infantile or early childhood, 33
HP:0002273HP:0002273Tetraparesis0AUH CL E G H549890ORPHA:670463-methylglutaconic aciduria type 149
HP:0002273HP:0002273Tetraparesis0BSCL2 CL E G H2658015832OMIM:615924Encephalopathy, progressive, with or without lipodystrophy.105
HP:0002273HP:0002273Tetraparesis0BSCL2 CL E G H2658015832ORPHA:363400Severe neurodegenerative syndrome with lipodystrophyHP:0040283 - Occasional105
HP:0002273HP:0002273Tetraparesis0C9ORF72 CL E G H20322828337OMIM:105550Amyotrophic lateral sclerosis and/or frontotemporal dementia 1.56
HP:0002273HP:0002273Tetraparesis0C9ORF72 CL E G H20322828337ORPHA:275872Frontotemporal dementia with motor neuron diseaseHP:0040282 - Frequent56
HP:0002273HP:0002273Tetraparesis0CA2 CL E G H7601373ORPHA:2785Osteopetrosis with renal tubular acidosis29
HP:0002273HP:0002273Tetraparesis0CACNA1A CL E G H7731388ORPHA:2131Alternating hemiplegia of childhoodHP:0040282 - Frequent449
HP:0002273HP:0002273Tetraparesis0CARS2 CL E G H7958725695ORPHA:477774Combined oxidative phosphorylation defect type 27HP:0040282 - Frequent35
HP:0002273HP:0002273Tetraparesis0CARS2 CL E G H7958725695OMIM:616672Combined oxidative phosphorylation deficiency 27.35
HP:0002273HP:0002273Tetraparesis0CHCHD10 CL E G H40091615559ORPHA:275872Frontotemporal dementia with motor neuron diseaseHP:0040282 - Frequent11
HP:0002273HP:0002273Tetraparesis0COA8 CL E G H8433420492OMIM:619061MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 17; MC4DN17
HP:0002273HP:0002273Tetraparesis0COA8 CL E G H8433420492ORPHA:436271Non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy
HP:0002273HP:0002273Tetraparesis0COL4A1 CL E G H12822202OMIM:175780Brain small vessel disease 1 with or without ocular anomalies.193
HP:0002273HP:0002273Tetraparesis0DYM CL E G H5480821317ORPHA:239Dyggve-Melchior-Clausen disease65
HP:0002273HP:0002273Tetraparesis0EARS2 CL E G H12445429419OMIM:614924Combined oxidative phosphorylation deficiency 1280
HP:0002273HP:0002273Tetraparesis0EIF2S3 CL E G H19683267OMIM:300148Mehmo syndrome8
HP:0002273HP:0002273Tetraparesis0ERLIN2 CL E G H111601356ORPHA:247604Juvenile primary lateral sclerosis18
HP:0002273HP:0002273Tetraparesis0EXOSC8 CL E G H1134017035OMIM:616081Pontocerebellar hypoplasia, type 1C4
HP:0002273HP:0002273Tetraparesis0FA2H CL E G H7915221197ORPHA:171629Autosomal recessive spastic paraplegia type 3576
HP:0002273HP:0002273Tetraparesis0FA2H CL E G H7915221197OMIM:612319Spastic paraplegia 35, autosomal recessive76
HP:0002273HP:0002273Tetraparesis0FAR1 CL E G H8418826222ORPHA:438178Fatty acyl-CoA reductase 1 deficiency7
HP:0002273HP:0002273Tetraparesis0FAR1 CL E G H8418826222OMIM:616154PEROXISOMAL FATTY ACYL-CoA REDUCTASE 1 DISORDER; PFCRD7
HP:0002273HP:0002273Tetraparesis0FBLN1 CL E G H21923600ORPHA:404451FBLN1-related developmental delay-central nervous system anomaly-syndactyly syndrome12
HP:0002273HP:0002273Tetraparesis0FUS CL E G H25214010ORPHA:275872Frontotemporal dementia with motor neuron diseaseHP:0040282 - Frequent105
HP:0002273HP:0002273Tetraparesis0GAD1 CL E G H25714092OMIM:619124DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 89; DEE8944
HP:0002273HP:0002273Tetraparesis0GALC CL E G H25814115ORPHA:206448Adult Krabbe diseaseHP:0040284 - Very rare160
HP:0002273HP:0002273Tetraparesis0GBE1 CL E G H26324180OMIM:263570Polyglucosan body neuropathy, adult form.86
HP:0002273HP:0002273Tetraparesis0GJA1 CL E G H26974274OMIM:164200Oculodentodigital dysplasia.68
HP:0002273HP:0002273Tetraparesis0GM2A CL E G H27604367OMIM:272750Gm2-Gangliosidosis, ab variant69
HP:0002273HP:0002273Tetraparesis0GSS CL E G H29374624OMIM:266130Glutathione synthetase deficiency39
HP:0002273HP:0002273Tetraparesis0GUF1 CL E G H6055825799OMIM:617065Epileptic encephalopathy, early infantile, 402
HP:0002273HP:0002273Tetraparesis0HINT1 CL E G H30944912ORPHA:324442Autosomal recessive axonal neuropathy with neuromyotoniaHP:0040283 - Occasional12
HP:0002273HP:0002273Tetraparesis0HSD17B10 CL E G H30284800ORPHA:391428HSD10 disease, infantile type19
HP:0002273HP:0002273Tetraparesis0IFIH1 CL E G H6413518873OMIM:615846Aicardi-Goutieres syndrome 728
HP:0002273HP:0002273Tetraparesis0KCNJ6 CL E G H37636267ORPHA:435628Keppen-Lubinsky syndrome3
HP:0002273HP:0002273Tetraparesis0KCNJ6 CL E G H37636267OMIM:614098Keppen-Lubinsky syndrome3
HP:0002273HP:0002273Tetraparesis0KCNQ2 CL E G H37856296OMIM:613720Epileptic encephalopathy, early infantile, 7528
HP:0002273HP:0002273Tetraparesis0L2HGDH CL E G H7994420499OMIM:236792L-2-Hydroxyglutaric aciduria34
HP:0002273HP:0002273Tetraparesis0L2HGDH CL E G H7994420499ORPHA:79314L-2-hydroxyglutaric aciduria34
HP:0002273HP:0002273Tetraparesis0LIMS2 CL E G H5567916084OMIM:616827Muscular dystrophy, limb-girdle, type 2W10
HP:0002273HP:0002273Tetraparesis0LIPT1 CL E G H5160129569OMIM:616299Lipoyltransferase 1 deficiency21
HP:0002273HP:0002273Tetraparesis0LIPT2 CL E G H38778737216OMIM:617668Encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities2
HP:0002273HP:0002273Tetraparesis0LMNB1 CL E G H40016637ORPHA:99027Adult-onset autosomal dominant leukodystrophyHP:0040283 - Occasional44
HP:0002273HP:0002273Tetraparesis0LMNB1 CL E G H40016637OMIM:619179MICROCEPHALY 26, PRIMARY, AUTOSOMAL DOMINANT; MCPH2644
HP:0002273HP:0002273Tetraparesis0LMX1B CL E G H40106654ORPHA:4958189q33.3q34.11 microdeletion syndrome165
HP:0002273HP:0002273Tetraparesis0LRP4 CL E G H40386696OMIM:614305Sclerosteosis 2.124
HP:0002273HP:0002273Tetraparesis0LYRM7 CL E G H9062428072OMIM:615838Mitochondrial complex III deficiency, nuclear type 810
HP:0002273HP:0002273Tetraparesis0MFSD2A CL E G H8487925897OMIM:616486Microcephaly 15, primary, autosomal recessive5
HP:0002273HP:0002273Tetraparesis0MOCS1 CL E G H43377190OMIM:252150Molybdenum cofactor deficiency, complementation group A96
HP:0002273HP:0002273Tetraparesis0MRM2 CL E G H2996016352OMIM:618567MITOCHONDRIAL DNA DEPLETION SYNDROME 17; MTDPS17
HP:0002273HP:0002273Tetraparesis0NAXE CL E G H12824018453OMIM:617186Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 1.9
HP:0002273HP:0002273Tetraparesis0NDUFS3 CL E G H47227710OMIM:618230Mitochondrial complex I deficiency, nuclear type 8.22
HP:0002273HP:0002273Tetraparesis0NEK1 CL E G H47507744OMIM:617892Amyotrophic lateral sclerosis, susceptibility to, 24.101
HP:0002273HP:0002273Tetraparesis0NEXMIF CL E G H34053329433ORPHA:85277X-linked intellectual disability, Cantagrel typeHP:0040281 - Very frequent52
HP:0002273HP:0002273Tetraparesis0NFU1 CL E G H2724716287OMIM:605711Multiple mitochondrial dysfunctions syndrome 134
HP:0002273HP:0002273Tetraparesis0NMNAT1 CL E G H6480217877OMIM:619260SPONDYLOEPIPHYSEAL DYSPLASIA, SENSORINEURAL HEARING LOSS, IMPAIRED INTELLECTUAL DEVELOPMENT, AND LEBER CONGENITAL AMAUROSIS; SHILCA15
HP:0002273HP:0002273Tetraparesis0NUP62 CL E G H236368066ORPHA:225154Familial infantile bilateral striatal necrosisHP:0040282 - Frequent7
HP:0002273HP:0002273Tetraparesis0PAFAH1B1 CL E G H50488574OMIM:607432Lissencephaly 1231
HP:0002273HP:0002273Tetraparesis0PDHX CL E G H805021350ORPHA:255182Pyruvate dehydrogenase E3-binding protein deficiencyHP:0040282 - Frequent98
HP:0002273HP:0002273Tetraparesis0PHACTR1 CL E G H22169220990OMIM:618298DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 70; DEE701
HP:0002273HP:0002273Tetraparesis0PLA2G6 CL E G H83989039ORPHA:35069Infantile neuroaxonal dystrophy133
HP:0002273HP:0002273Tetraparesis0PLP1 CL E G H53549086ORPHA:280219Pelizaeus-Merzbacher disease, classic form60
HP:0002273HP:0002273Tetraparesis0PLP1 CL E G H53549086ORPHA:280224Pelizaeus-Merzbacher disease, transitional form60
HP:0002273HP:0002273Tetraparesis0PNP CL E G H48607892OMIM:613179Immunodeficiency due to purine nucleoside phosphorylase deficiency.52
HP:0002273HP:0002273Tetraparesis0POLR3K CL E G H5172814121OMIM:619310LEUKODYSTROPHY, HYPOMYELINATING, 21; HLD21
HP:0002273HP:0002273Tetraparesis0PPOX CL E G H54989280ORPHA:79473Porphyria variegataHP:0040282 - Frequent41
HP:0002273HP:0002273Tetraparesis0PRDM8 CL E G H5697813993ORPHA:324290Early-onset Lafora body disease1
HP:0002273HP:0002273Tetraparesis0PRPS1 CL E G H56319462ORPHA:423479X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome49
HP:0002273HP:0002273Tetraparesis0PRUNE1 CL E G H5849713420OMIM:617481Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies8
HP:0002273HP:0002273Tetraparesis0PRUNE1 CL E G H5849713420ORPHA:544469PRUNE1-related neurological syndrome8
HP:0002273HP:0002273Tetraparesis0PSAP CL E G H56609498OMIM:249900Metachromatic leukodystrophy due to saposin B deficiency81
HP:0002273HP:0002273Tetraparesis0PSAT1 CL E G H2996819129ORPHA:284417Phosphoserine aminotransferase deficiency, infantile/juvenile form27
HP:0002273HP:0002273Tetraparesis0PSEN1 CL E G H56639508OMIM:607822Alzheimer disease 3241
HP:0002273HP:0002273Tetraparesis0REEP1 CL E G H6505525786ORPHA:101011Autosomal dominant spastic paraplegia type 3187
HP:0002273HP:0002273Tetraparesis0RERE CL E G H4739965OMIM:616975Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart16
HP:0002273HP:0002273Tetraparesis0RNU7-1 CL E G H10014774434033OMIM:619487AICARDI-GOUTIERES SYNDROME 9; AGS9
HP:0002273HP:0002273Tetraparesis0SARDH CL E G H175710536ORPHA:3129SarcosinemiaHP:0040283 - Occasional4
HP:0002273HP:0002273Tetraparesis0SDHA CL E G H638910680ORPHA:3208Isolated succinate-CoQ reductase deficiency304
HP:0002273HP:0002273Tetraparesis0SDHAF1 CL E G H64409633867ORPHA:3208Isolated succinate-CoQ reductase deficiency16
HP:0002273HP:0002273Tetraparesis0SDHB CL E G H639010681ORPHA:3208Isolated succinate-CoQ reductase deficiency237
HP:0002273HP:0002273Tetraparesis0SDHD CL E G H639210683ORPHA:3208Isolated succinate-CoQ reductase deficiency129
HP:0002273HP:0002273Tetraparesis0SLC18A2 CL E G H657110935ORPHA:352649Brain dopamine-serotonin vesicular transport disease2
HP:0002273HP:0002273Tetraparesis0SLC19A3 CL E G H8070416266ORPHA:263410Infantile spasms-psychomotor retardation-progressive brain atrophy-basal ganglia disease syndromeHP:0040282 - Frequent110
HP:0002273HP:0002273Tetraparesis0SLC19A3 CL E G H8070416266OMIM:607483Thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive encephalopathy type 2)110
HP:0002273HP:0002273Tetraparesis0SLC1A2 CL E G H650610940OMIM:617105Epileptic encephalopathy, early infantile, 413
HP:0002273HP:0002273Tetraparesis0SLC1A3 CL E G H650710941ORPHA:2131Alternating hemiplegia of childhoodHP:0040282 - Frequent63
HP:0002273HP:0002273Tetraparesis0SLC25A10 CL E G H146810980OMIM:618972MITOCHONDRIAL DNA DEPLETION SYNDROME 19; MTDPS19
HP:0002273HP:0002273Tetraparesis0SLC35A2 CL E G H735511022ORPHA:356961SLC35A2-CDG27
HP:0002273HP:0002273Tetraparesis0SMC1A CL E G H824311111OMIM:301044DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 85 WITH OR WITHOUT MIDLINE BRAIN DEFECTS; DEE85135
HP:0002273HP:0002273Tetraparesis0SOD1 CL E G H664711179OMIM:618598SPASTIC TETRAPLEGIA AND AXIAL HYPOTONIA, PROGRESSIVE; STAHP53
HP:0002273HP:0002273Tetraparesis0SOX4 CL E G H665911200OMIM:618506Coffin-Siris syndrome 10
HP:0002273HP:0002273Tetraparesis0SQSTM1 CL E G H887811280ORPHA:275872Frontotemporal dementia with motor neuron diseaseHP:0040282 - Frequent62
HP:0002273HP:0002273Tetraparesis0STAMBP CL E G H1061716950OMIM:614261Microcephaly-Capillary malformation syndrome24
HP:0002273HP:0002273Tetraparesis0STXBP1 CL E G H681211444ORPHA:4958189q33.3q34.11 microdeletion syndrome237
HP:0002273HP:0002273Tetraparesis0TACO1 CL E G H5120424316OMIM:619052MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 8; MC4DN823
HP:0002273HP:0002273Tetraparesis0TARDBP CL E G H2343511571ORPHA:275872Frontotemporal dementia with motor neuron diseaseHP:0040282 - Frequent65
HP:0002273HP:0002273Tetraparesis0TBCE CL E G H690511582ORPHA:496756Early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndrome52
HP:0002273HP:0002273Tetraparesis0TBK1 CL E G H2911011584ORPHA:275872Frontotemporal dementia with motor neuron diseaseHP:0040282 - Frequent20
HP:0002273HP:0002273Tetraparesis0TMEM222 CL E G H8406525363OMIM:619470NEURODEVELOPMENTAL DISORDER WITH MOTOR AND SPEECH DELAY AND BEHAVIORAL ABNORMALITIES; NEDMOSBA
HP:0002273HP:0002273Tetraparesis0TNFRSF11A CL E G H879211908OMIM:602080Paget disease of bone 2, early-onset.72
HP:0002273HP:0002273Tetraparesis0TNR CL E G H714311953OMIM:619653NEURODEVELOPMENTAL DISORDER, NONPROGRESSIVE, WITH SPASTICITY AND TRANSIENT OPISTHOTONUS; NEDSTO7
HP:0002273HP:0002273Tetraparesis0TRAPPC4 CL E G H5139919943OMIM:618741NEURODEVELOPMENTAL DISORDER WITH EPILEPSY, SPASTICITY, AND BRAIN ATROPHY; NEDESBA1
HP:0002273HP:0002273Tetraparesis0UCHL1 CL E G H734512513OMIM:615491Spastic paraplegia 79, autosomal recessive.21
HP:0002273HP:0002273Tetraparesis0UGP2 CL E G H736012527OMIM:618744DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 83; DEE83
HP:0002273HP:0002273Tetraparesis0VCP CL E G H741512666OMIM:613954Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia63
HP:0002273HP:0002273Tetraparesis0VCP CL E G H741512666ORPHA:275872Frontotemporal dementia with motor neuron diseaseHP:0040282 - Frequent63
HP:0002273HP:0002273Tetraparesis0VCP CL E G H741512666OMIM:167320Inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 163
HP:0002273HP:0002273Tetraparesis0WDR62 CL E G H28440324502OMIM:604317Microcephaly 2, primary, autosomal recessive, with or without cortical malformations224
HP:0002273HP:0001285Spastic tetraparesis1AASS CL E G H1015717366ORPHA:2203HyperlysinemiaHP:0040283 - Occasional15
HP:0002273HP:0001285Spastic tetraparesis1ABCD1 CL E G H21561ORPHA:139396X-linked cerebral adrenoleukodystrophyHP:0040283 - Occasional135
HP:0002273HP:0001285Spastic tetraparesis1ADAR CL E G H103225ORPHA:225154Familial infantile bilateral striatal necrosisHP:0040282 - Frequent116
HP:0002273HP:0001285Spastic tetraparesis1AFF3 CL E G H38996473OMIM:619297KINSSHIP SYNDROME; KINS1
HP:0002273HP:0001285Spastic tetraparesis1ALG3 CL E G H1019523056ORPHA:79321ALG3-CDGHP:0040283 - Occasional37
HP:0002273HP:0001285Spastic tetraparesis1ALS2 CL E G H57679443OMIM:205100Amyotrophic lateral sclerosis 2, juvenile.114
HP:0002273HP:0001285Spastic tetraparesis1ALS2 CL E G H57679443ORPHA:247604Juvenile primary lateral sclerosisHP:0040281 - Very frequent114
HP:0002273HP:0001285Spastic tetraparesis1ALS2 CL E G H57679443OMIM:606353Primary lateral sclerosis, juvenile.114
HP:0002273HP:0001285Spastic tetraparesis1APOE CL E G H348613OMIM:607822Alzheimer disease 3.39
HP:0002273HP:0001285Spastic tetraparesis1ARX CL E G H17030218060OMIM:308350Developmental and epileptic encephalopathy 1166
HP:0002273HP:0001285Spastic tetraparesis1ATP6 CL E G H45087414ORPHA:225154Familial infantile bilateral striatal necrosisHP:0040282 - Frequent
HP:0002273HP:0001285Spastic tetraparesis1ATP6V1A CL E G H523851OMIM:618012Epileptic encephalopathy, infantile or early childhood, 3.3
HP:0002273HP:0001285Spastic tetraparesis1AUH CL E G H549890ORPHA:670463-methylglutaconic aciduria type 1HP:0040283 - Occasional49
HP:0002273HP:0001285Spastic tetraparesis1COA8 CL E G H8433420492OMIM:619061MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 17; MC4DN17
HP:0002273HP:0001285Spastic tetraparesis1COA8 CL E G H8433420492ORPHA:436271Non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathyHP:0040283 - Occasional
HP:0002273HP:0001285Spastic tetraparesis1DYM CL E G H5480821317ORPHA:239Dyggve-Melchior-Clausen diseaseHP:0040283 - Occasional65
HP:0002273HP:0001285Spastic tetraparesis1EARS2 CL E G H12445429419OMIM:614924Combined oxidative phosphorylation deficiency 12.80
HP:0002273HP:0001285Spastic tetraparesis1EIF2S3 CL E G H19683267OMIM:300148Mehmo syndrome.8
HP:0002273HP:0001285Spastic tetraparesis1ERLIN2 CL E G H111601356ORPHA:247604Juvenile primary lateral sclerosisHP:0040281 - Very frequent18
HP:0002273HP:0001285Spastic tetraparesis1EXOSC8 CL E G H1134017035OMIM:616081Pontocerebellar hypoplasia, type 1C.4
HP:0002273HP:0001285Spastic tetraparesis1FA2H CL E G H7915221197ORPHA:171629Autosomal recessive spastic paraplegia type 35HP:0040282 - Frequent76
HP:0002273HP:0001285Spastic tetraparesis1FA2H CL E G H7915221197OMIM:612319Spastic paraplegia 35, autosomal recessive.76
HP:0002273HP:0001285Spastic tetraparesis1FAR1 CL E G H8418826222ORPHA:438178Fatty acyl-CoA reductase 1 deficiencyHP:0040282 - Frequent7
HP:0002273HP:0001285Spastic tetraparesis1FAR1 CL E G H8418826222OMIM:616154PEROXISOMAL FATTY ACYL-CoA REDUCTASE 1 DISORDER; PFCRD7
HP:0002273HP:0001285Spastic tetraparesis1FBLN1 CL E G H21923600ORPHA:404451FBLN1-related developmental delay-central nervous system anomaly-syndactyly syndromeHP:0040282 - Frequent12
HP:0002273HP:0001285Spastic tetraparesis1GM2A CL E G H27604367OMIM:272750Gm2-Gangliosidosis, ab variant.69
HP:0002273HP:0001285Spastic tetraparesis1GSS CL E G H29374624OMIM:266130Glutathione synthetase deficiency.39
HP:0002273HP:0001285Spastic tetraparesis1GUF1 CL E G H6055825799OMIM:617065Epileptic encephalopathy, early infantile, 402
HP:0002273HP:0001285Spastic tetraparesis1HSD17B10 CL E G H30284800ORPHA:391428HSD10 disease, infantile typeHP:0040283 - Occasional19
HP:0002273HP:0001285Spastic tetraparesis1IFIH1 CL E G H6413518873OMIM:615846Aicardi-Goutieres syndrome 7.28
HP:0002273HP:0001285Spastic tetraparesis1KCNJ6 CL E G H37636267OMIM:614098Keppen-Lubinsky syndrome.3
HP:0002273HP:0001285Spastic tetraparesis1KCNJ6 CL E G H37636267ORPHA:435628Keppen-Lubinsky syndromeHP:0040282 - Frequent3
HP:0002273HP:0001285Spastic tetraparesis1KCNQ2 CL E G H37856296OMIM:613720Epileptic encephalopathy, early infantile, 7.528
HP:0002273HP:0001285Spastic tetraparesis1L2HGDH CL E G H7994420499ORPHA:79314L-2-hydroxyglutaric aciduriaHP:0040282 - Frequent34
HP:0002273HP:0001285Spastic tetraparesis1L2HGDH CL E G H7994420499OMIM:236792L-2-Hydroxyglutaric aciduria.34
HP:0002273HP:0001285Spastic tetraparesis1LIPT1 CL E G H5160129569OMIM:616299Lipoyltransferase 1 deficiency.21
HP:0002273HP:0001285Spastic tetraparesis1LIPT2 CL E G H38778737216OMIM:617668Encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities.2
HP:0002273HP:0001285Spastic tetraparesis1LMNB1 CL E G H40016637OMIM:619179MICROCEPHALY 26, PRIMARY, AUTOSOMAL DOMINANT; MCPH2644
HP:0002273HP:0001285Spastic tetraparesis1LMX1B CL E G H40106654ORPHA:4958189q33.3q34.11 microdeletion syndromeHP:0040283 - Occasional165
HP:0002273HP:0001285Spastic tetraparesis1LYRM7 CL E G H9062428072OMIM:615838Mitochondrial complex III deficiency, nuclear type 8.10
HP:0002273HP:0001285Spastic tetraparesis1MFSD2A CL E G H8487925897OMIM:616486Microcephaly 15, primary, autosomal recessive.5
HP:0002273HP:0001285Spastic tetraparesis1MOCS1 CL E G H43377190OMIM:252150Molybdenum cofactor deficiency, complementation group A.96
HP:0002273HP:0001285Spastic tetraparesis1MRM2 CL E G H2996016352OMIM:618567MITOCHONDRIAL DNA DEPLETION SYNDROME 17; MTDPS17
HP:0002273HP:0001285Spastic tetraparesis1NFU1 CL E G H2724716287OMIM:605711Multiple mitochondrial dysfunctions syndrome 134
HP:0002273HP:0001285Spastic tetraparesis1NUP62 CL E G H236368066ORPHA:225154Familial infantile bilateral striatal necrosisHP:0040282 - Frequent7
HP:0002273HP:0001285Spastic tetraparesis1PAFAH1B1 CL E G H50488574OMIM:607432Lissencephaly 1.231
HP:0002273HP:0001285Spastic tetraparesis1PHACTR1 CL E G H22169220990OMIM:618298DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 70; DEE701
HP:0002273HP:0001285Spastic tetraparesis1PLA2G6 CL E G H83989039ORPHA:35069Infantile neuroaxonal dystrophyHP:0040282 - Frequent133
HP:0002273HP:0001285Spastic tetraparesis1PLP1 CL E G H53549086ORPHA:280219Pelizaeus-Merzbacher disease, classic formHP:0040282 - Frequent60
HP:0002273HP:0001285Spastic tetraparesis1PLP1 CL E G H53549086ORPHA:280224Pelizaeus-Merzbacher disease, transitional formHP:0040282 - Frequent60
HP:0002273HP:0001285Spastic tetraparesis1PRDM8 CL E G H5697813993ORPHA:324290Early-onset Lafora body diseaseHP:0040283 - Occasional1
HP:0002273HP:0001285Spastic tetraparesis1PRPS1 CL E G H56319462ORPHA:423479X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndromeHP:0040282 - Frequent49
HP:0002273HP:0001285Spastic tetraparesis1PRUNE1 CL E G H5849713420OMIM:617481Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies.8
HP:0002273HP:0001285Spastic tetraparesis1PRUNE1 CL E G H5849713420ORPHA:544469PRUNE1-related neurological syndrome8
HP:0002273HP:0001285Spastic tetraparesis1PSAP CL E G H56609498OMIM:249900Metachromatic leukodystrophy due to saposin B deficiency.81
HP:0002273HP:0001285Spastic tetraparesis1PSAT1 CL E G H2996819129ORPHA:284417Phosphoserine aminotransferase deficiency, infantile/juvenile formHP:0040283 - Occasional27
HP:0002273HP:0001285Spastic tetraparesis1PSEN1 CL E G H56639508OMIM:607822Alzheimer disease 3.241
HP:0002273HP:0001285Spastic tetraparesis1REEP1 CL E G H6505525786ORPHA:101011Autosomal dominant spastic paraplegia type 31HP:0040283 - Occasional87
HP:0002273HP:0001285Spastic tetraparesis1RERE CL E G H4739965OMIM:616975Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart16
HP:0002273HP:0001285Spastic tetraparesis1RNU7-1 CL E G H10014774434033OMIM:619487AICARDI-GOUTIERES SYNDROME 9; AGS9
HP:0002273HP:0001285Spastic tetraparesis1SDHA CL E G H638910680ORPHA:3208Isolated succinate-CoQ reductase deficiencyHP:0040283 - Occasional304
HP:0002273HP:0001285Spastic tetraparesis1SDHAF1 CL E G H64409633867ORPHA:3208Isolated succinate-CoQ reductase deficiencyHP:0040283 - Occasional16
HP:0002273HP:0001285Spastic tetraparesis1SDHB CL E G H639010681ORPHA:3208Isolated succinate-CoQ reductase deficiencyHP:0040283 - Occasional237
HP:0002273HP:0001285Spastic tetraparesis1SDHD CL E G H639210683ORPHA:3208Isolated succinate-CoQ reductase deficiencyHP:0040283 - Occasional129
HP:0002273HP:0001285Spastic tetraparesis1SLC18A2 CL E G H657110935ORPHA:352649Brain dopamine-serotonin vesicular transport diseaseHP:0040281 - Very frequent2
HP:0002273HP:0001285Spastic tetraparesis1SLC35A2 CL E G H735511022ORPHA:356961SLC35A2-CDGHP:0040283 - Occasional27
HP:0002273HP:0001285Spastic tetraparesis1SMC1A CL E G H824311111OMIM:301044DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 85 WITH OR WITHOUT MIDLINE BRAIN DEFECTS; DEE85135
HP:0002273HP:0001285Spastic tetraparesis1SOD1 CL E G H664711179OMIM:618598SPASTIC TETRAPLEGIA AND AXIAL HYPOTONIA, PROGRESSIVE; STAHP53
HP:0002273HP:0001285Spastic tetraparesis1SOX4 CL E G H665911200OMIM:618506Coffin-Siris syndrome 10HP:0040284 - Very rare
HP:0002273HP:0001285Spastic tetraparesis1STAMBP CL E G H1061716950OMIM:614261Microcephaly-Capillary malformation syndrome.24
HP:0002273HP:0001285Spastic tetraparesis1STXBP1 CL E G H681211444ORPHA:4958189q33.3q34.11 microdeletion syndromeHP:0040283 - Occasional237
HP:0002273HP:0001285Spastic tetraparesis1TACO1 CL E G H5120424316OMIM:619052MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 8; MC4DN823
HP:0002273HP:0001285Spastic tetraparesis1TBCE CL E G H690511582ORPHA:496756Early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndromeHP:0040283 - Occasional52
HP:0002273HP:0001285Spastic tetraparesis1TMEM222 CL E G H8406525363OMIM:619470NEURODEVELOPMENTAL DISORDER WITH MOTOR AND SPEECH DELAY AND BEHAVIORAL ABNORMALITIES; NEDMOSBA
HP:0002273HP:0001285Spastic tetraparesis1TNR CL E G H714311953OMIM:619653NEURODEVELOPMENTAL DISORDER, NONPROGRESSIVE, WITH SPASTICITY AND TRANSIENT OPISTHOTONUS; NEDSTO7
HP:0002273HP:0001285Spastic tetraparesis1TRAPPC4 CL E G H5139919943OMIM:618741NEURODEVELOPMENTAL DISORDER WITH EPILEPSY, SPASTICITY, AND BRAIN ATROPHY; NEDESBA1
HP:0002273HP:0001285Spastic tetraparesis1WDR62 CL E G H28440324502OMIM:604317Microcephaly 2, primary, autosomal recessive, with or without cortical malformations.224


Genes (109) :AASS ABCD1 ADAR AFF3 AGTPBP1 AIFM1 ALG3 ALS2 APOE ARFGEF2 ARX ATP1A2 ATP1A3 ATP6 ATP6V1A AUH BSCL2 C9ORF72 CA2 CACNA1A CARS2 CHCHD10 COA8 COL4A1 DYM EARS2 EIF2S3 ERLIN2 EXOSC8 FA2H FAR1 FBLN1 FUS GAD1 GALC GBE1 GJA1 GM2A GSS GUF1 HINT1 HSD17B10 IFIH1 KCNJ6 KCNQ2 L2HGDH LIMS2 LIPT1 LIPT2 LMNB1 LMX1B LRP4 LYRM7 MFSD2A MOCS1 MRM2 NAXE NDUFS3 NEK1 NEXMIF NFU1 NMNAT1 NUP62 PAFAH1B1 PDHX PHACTR1 PLA2G6 PLP1 PNP POLR3K PPOX PRDM8 PRPS1 PRUNE1 PSAP PSAT1 PSEN1 REEP1 RERE RNU7-1 SARDH SDHA SDHAF1 SDHB SDHD SLC18A2 SLC19A3 SLC1A2 SLC1A3 SLC25A10 SLC35A2 SMC1A SOD1 SOX4 SQSTM1 STAMBP STXBP1 TACO1 TARDBP TBCE TBK1 TMEM222 TNFRSF11A TNR TRAPPC4 UCHL1 UGP2 VCP WDR62

Diseases (108) :ORPHA:2203 ORPHA:139396 ORPHA:225154 OMIM:619297 OMIM:618276 OMIM:300232 ORPHA:79321 OMIM:205100 ORPHA:247604 OMIM:606353 OMIM:607822 OMIM:608097 OMIM:308350 ORPHA:2131 OMIM:618012 ORPHA:67046 OMIM:615924 ORPHA:363400 OMIM:105550 ORPHA:275872 ORPHA:2785 ORPHA:477774 OMIM:616672 OMIM:619061 ORPHA:436271 OMIM:175780 ORPHA:239 OMIM:614924 OMIM:300148 OMIM:616081 ORPHA:171629 OMIM:612319 ORPHA:438178 OMIM:616154 ORPHA:404451 OMIM:619124 ORPHA:206448 OMIM:263570 OMIM:164200 OMIM:272750 OMIM:266130 OMIM:617065 ORPHA:324442 ORPHA:391428 OMIM:615846 ORPHA:435628 OMIM:614098 OMIM:613720 OMIM:236792 ORPHA:79314 OMIM:616827 OMIM:616299 OMIM:617668 ORPHA:99027 OMIM:619179 ORPHA:495818 OMIM:614305 OMIM:615838 OMIM:616486 OMIM:252150 OMIM:618567 OMIM:617186 OMIM:618230 OMIM:617892 ORPHA:85277 OMIM:605711 OMIM:619260 OMIM:607432 ORPHA:255182 OMIM:618298 ORPHA:35069 ORPHA:280219 ORPHA:280224 OMIM:613179 OMIM:619310 ORPHA:79473 ORPHA:324290 ORPHA:423479 OMIM:617481 ORPHA:544469 OMIM:249900 ORPHA:284417 ORPHA:101011 OMIM:616975 OMIM:619487 ORPHA:3129 ORPHA:3208 ORPHA:352649 ORPHA:263410 OMIM:607483 OMIM:617105 OMIM:618972 ORPHA:356961 OMIM:301044 OMIM:618598 OMIM:618506 OMIM:614261 OMIM:619052 ORPHA:496756 OMIM:619470 OMIM:602080 OMIM:619653 OMIM:618741 OMIM:615491 OMIM:618744 OMIM:613954 OMIM:167320 OMIM:604317
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.