Human Phenotype Ontology 
Grandparent Node:
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Hypertonia (HP:0001276)help
Parent Node:
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Spasticity (HP:0001257)help
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Spastic tetraparesis (HP:0001285)help
Term ID: 1285
Name: Spastic tetraparesis
Synonym: Spastic quadriparesis
Definition: Spastic weakness affecting all four limbs.
Comments:
Reference: HP:0001285
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandClasp-knife sign (HP:0031866) help
..expandLower limb spasticity (HP:0002061) help
..expandOpisthotonus (HP:0002179) help
..expandProgressive spasticity (HP:0002191) help
..expandSpastic diplegia (HP:0001264) help
..expandSpastic dysarthria (HP:0002464) help
..expandSpastic gait (HP:0002064) help
..expandSpastic hemiparesis (HP:0011099) help
..expandSpastic tetraplegia (HP:0002510) help
..expandSpasticity of facial muscles (HP:0002491) help
..expandSpasticity of pharyngeal muscles (HP:0002501) help
..expandUpper limb spasticity (HP:0006986) 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:0001285HP:0001285Spastic tetraparesis0AASS CL E G H1015717366ORPHA:2203HyperlysinemiaHP:0040283 - Occasional15
HP:0001285HP:0001285Spastic tetraparesis0ABCD1 CL E G H21561ORPHA:139396X-linked cerebral adrenoleukodystrophyHP:0040283 - Occasional135
HP:0001285HP:0001285Spastic tetraparesis0ADAR CL E G H103225ORPHA:225154Familial infantile bilateral striatal necrosisHP:0040282 - Frequent116
HP:0001285HP:0001285Spastic tetraparesis0AFF3 CL E G H38996473OMIM:619297KINSSHIP SYNDROME; KINS1
HP:0001285HP:0001285Spastic tetraparesis0ALG3 CL E G H1019523056ORPHA:79321ALG3-CDGHP:0040283 - Occasional37
HP:0001285HP:0001285Spastic tetraparesis0ALS2 CL E G H57679443OMIM:205100Amyotrophic lateral sclerosis 2, juvenile.114
HP:0001285HP:0001285Spastic tetraparesis0ALS2 CL E G H57679443ORPHA:247604Juvenile primary lateral sclerosisHP:0040281 - Very frequent114
HP:0001285HP:0001285Spastic tetraparesis0ALS2 CL E G H57679443OMIM:606353Primary lateral sclerosis, juvenile.114
HP:0001285HP:0001285Spastic tetraparesis0APOE CL E G H348613OMIM:607822Alzheimer disease 3.39
HP:0001285HP:0001285Spastic tetraparesis0ARX CL E G H17030218060OMIM:308350Developmental and epileptic encephalopathy 1166
HP:0001285HP:0001285Spastic tetraparesis0ATP6 CL E G H45087414ORPHA:225154Familial infantile bilateral striatal necrosisHP:0040282 - Frequent
HP:0001285HP:0001285Spastic tetraparesis0ATP6V1A CL E G H523851OMIM:618012Epileptic encephalopathy, infantile or early childhood, 3.3
HP:0001285HP:0001285Spastic tetraparesis0AUH CL E G H549890ORPHA:670463-methylglutaconic aciduria type 1HP:0040283 - Occasional49
HP:0001285HP:0001285Spastic tetraparesis0COA8 CL E G H8433420492OMIM:619061MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 17; MC4DN17
HP:0001285HP:0001285Spastic tetraparesis0COA8 CL E G H8433420492ORPHA:436271Non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathyHP:0040283 - Occasional
HP:0001285HP:0001285Spastic tetraparesis0DYM CL E G H5480821317ORPHA:239Dyggve-Melchior-Clausen diseaseHP:0040283 - Occasional65
HP:0001285HP:0001285Spastic tetraparesis0EARS2 CL E G H12445429419OMIM:614924Combined oxidative phosphorylation deficiency 12.80
HP:0001285HP:0001285Spastic tetraparesis0EIF2S3 CL E G H19683267OMIM:300148Mehmo syndrome.8
HP:0001285HP:0001285Spastic tetraparesis0ERLIN2 CL E G H111601356ORPHA:247604Juvenile primary lateral sclerosisHP:0040281 - Very frequent18
HP:0001285HP:0001285Spastic tetraparesis0EXOSC8 CL E G H1134017035OMIM:616081Pontocerebellar hypoplasia, type 1C.4
HP:0001285HP:0001285Spastic tetraparesis0FA2H CL E G H7915221197ORPHA:171629Autosomal recessive spastic paraplegia type 35HP:0040282 - Frequent76
HP:0001285HP:0001285Spastic tetraparesis0FA2H CL E G H7915221197OMIM:612319Spastic paraplegia 35, autosomal recessive.76
HP:0001285HP:0001285Spastic tetraparesis0FAR1 CL E G H8418826222ORPHA:438178Fatty acyl-CoA reductase 1 deficiencyHP:0040282 - Frequent7
HP:0001285HP:0001285Spastic tetraparesis0FAR1 CL E G H8418826222OMIM:616154PEROXISOMAL FATTY ACYL-CoA REDUCTASE 1 DISORDER; PFCRD7
HP:0001285HP:0001285Spastic tetraparesis0FBLN1 CL E G H21923600ORPHA:404451FBLN1-related developmental delay-central nervous system anomaly-syndactyly syndromeHP:0040282 - Frequent12
HP:0001285HP:0001285Spastic tetraparesis0GM2A CL E G H27604367OMIM:272750Gm2-Gangliosidosis, ab variant.69
HP:0001285HP:0001285Spastic tetraparesis0GSS CL E G H29374624OMIM:266130Glutathione synthetase deficiency.39
HP:0001285HP:0001285Spastic tetraparesis0GUF1 CL E G H6055825799OMIM:617065Epileptic encephalopathy, early infantile, 402
HP:0001285HP:0001285Spastic tetraparesis0HSD17B10 CL E G H30284800ORPHA:391428HSD10 disease, infantile typeHP:0040283 - Occasional19
HP:0001285HP:0001285Spastic tetraparesis0IFIH1 CL E G H6413518873OMIM:615846Aicardi-Goutieres syndrome 7.28
HP:0001285HP:0001285Spastic tetraparesis0KCNJ6 CL E G H37636267OMIM:614098Keppen-Lubinsky syndrome.3
HP:0001285HP:0001285Spastic tetraparesis0KCNJ6 CL E G H37636267ORPHA:435628Keppen-Lubinsky syndromeHP:0040282 - Frequent3
HP:0001285HP:0001285Spastic tetraparesis0KCNQ2 CL E G H37856296OMIM:613720Epileptic encephalopathy, early infantile, 7.528
HP:0001285HP:0001285Spastic tetraparesis0L2HGDH CL E G H7994420499ORPHA:79314L-2-hydroxyglutaric aciduriaHP:0040282 - Frequent34
HP:0001285HP:0001285Spastic tetraparesis0L2HGDH CL E G H7994420499OMIM:236792L-2-Hydroxyglutaric aciduria.34
HP:0001285HP:0001285Spastic tetraparesis0LIPT1 CL E G H5160129569OMIM:616299Lipoyltransferase 1 deficiency.21
HP:0001285HP:0001285Spastic tetraparesis0LIPT2 CL E G H38778737216OMIM:617668Encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities.2
HP:0001285HP:0001285Spastic tetraparesis0LMNB1 CL E G H40016637OMIM:619179MICROCEPHALY 26, PRIMARY, AUTOSOMAL DOMINANT; MCPH2644
HP:0001285HP:0001285Spastic tetraparesis0LMX1B CL E G H40106654ORPHA:4958189q33.3q34.11 microdeletion syndromeHP:0040283 - Occasional165
HP:0001285HP:0001285Spastic tetraparesis0LYRM7 CL E G H9062428072OMIM:615838Mitochondrial complex III deficiency, nuclear type 8.10
HP:0001285HP:0001285Spastic tetraparesis0MFSD2A CL E G H8487925897OMIM:616486Microcephaly 15, primary, autosomal recessive.5
HP:0001285HP:0001285Spastic tetraparesis0MOCS1 CL E G H43377190OMIM:252150Molybdenum cofactor deficiency, complementation group A.96
HP:0001285HP:0001285Spastic tetraparesis0MRM2 CL E G H2996016352OMIM:618567MITOCHONDRIAL DNA DEPLETION SYNDROME 17; MTDPS17
HP:0001285HP:0001285Spastic tetraparesis0NFU1 CL E G H2724716287OMIM:605711Multiple mitochondrial dysfunctions syndrome 134
HP:0001285HP:0001285Spastic tetraparesis0NUP62 CL E G H236368066ORPHA:225154Familial infantile bilateral striatal necrosisHP:0040282 - Frequent7
HP:0001285HP:0001285Spastic tetraparesis0PAFAH1B1 CL E G H50488574OMIM:607432Lissencephaly 1.231
HP:0001285HP:0001285Spastic tetraparesis0PHACTR1 CL E G H22169220990OMIM:618298DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 70; DEE701
HP:0001285HP:0001285Spastic tetraparesis0PLA2G6 CL E G H83989039ORPHA:35069Infantile neuroaxonal dystrophyHP:0040282 - Frequent133
HP:0001285HP:0001285Spastic tetraparesis0PLP1 CL E G H53549086ORPHA:280219Pelizaeus-Merzbacher disease, classic formHP:0040282 - Frequent60
HP:0001285HP:0001285Spastic tetraparesis0PLP1 CL E G H53549086ORPHA:280224Pelizaeus-Merzbacher disease, transitional formHP:0040282 - Frequent60
HP:0001285HP:0001285Spastic tetraparesis0PRDM8 CL E G H5697813993ORPHA:324290Early-onset Lafora body diseaseHP:0040283 - Occasional1
HP:0001285HP:0001285Spastic tetraparesis0PRPS1 CL E G H56319462ORPHA:423479X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndromeHP:0040282 - Frequent49
HP:0001285HP:0001285Spastic tetraparesis0PRUNE1 CL E G H5849713420OMIM:617481Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies.8
HP:0001285HP:0001285Spastic tetraparesis0PRUNE1 CL E G H5849713420ORPHA:544469PRUNE1-related neurological syndrome8
HP:0001285HP:0001285Spastic tetraparesis0PSAP CL E G H56609498OMIM:249900Metachromatic leukodystrophy due to saposin B deficiency.81
HP:0001285HP:0001285Spastic tetraparesis0PSAT1 CL E G H2996819129ORPHA:284417Phosphoserine aminotransferase deficiency, infantile/juvenile formHP:0040283 - Occasional27
HP:0001285HP:0001285Spastic tetraparesis0PSEN1 CL E G H56639508OMIM:607822Alzheimer disease 3.241
HP:0001285HP:0001285Spastic tetraparesis0REEP1 CL E G H6505525786ORPHA:101011Autosomal dominant spastic paraplegia type 31HP:0040283 - Occasional87
HP:0001285HP:0001285Spastic tetraparesis0RERE CL E G H4739965OMIM:616975Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart16
HP:0001285HP:0001285Spastic tetraparesis0RNU7-1 CL E G H10014774434033OMIM:619487AICARDI-GOUTIERES SYNDROME 9; AGS9
HP:0001285HP:0001285Spastic tetraparesis0SDHA CL E G H638910680ORPHA:3208Isolated succinate-CoQ reductase deficiencyHP:0040283 - Occasional304
HP:0001285HP:0001285Spastic tetraparesis0SDHAF1 CL E G H64409633867ORPHA:3208Isolated succinate-CoQ reductase deficiencyHP:0040283 - Occasional16
HP:0001285HP:0001285Spastic tetraparesis0SDHB CL E G H639010681ORPHA:3208Isolated succinate-CoQ reductase deficiencyHP:0040283 - Occasional237
HP:0001285HP:0001285Spastic tetraparesis0SDHD CL E G H639210683ORPHA:3208Isolated succinate-CoQ reductase deficiencyHP:0040283 - Occasional129
HP:0001285HP:0001285Spastic tetraparesis0SLC18A2 CL E G H657110935ORPHA:352649Brain dopamine-serotonin vesicular transport diseaseHP:0040281 - Very frequent2
HP:0001285HP:0001285Spastic tetraparesis0SLC35A2 CL E G H735511022ORPHA:356961SLC35A2-CDGHP:0040283 - Occasional27
HP:0001285HP:0001285Spastic tetraparesis0SMC1A CL E G H824311111OMIM:301044DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 85 WITH OR WITHOUT MIDLINE BRAIN DEFECTS; DEE85135
HP:0001285HP:0001285Spastic tetraparesis0SOD1 CL E G H664711179OMIM:618598SPASTIC TETRAPLEGIA AND AXIAL HYPOTONIA, PROGRESSIVE; STAHP53
HP:0001285HP:0001285Spastic tetraparesis0SOX4 CL E G H665911200OMIM:618506Coffin-Siris syndrome 10HP:0040284 - Very rare
HP:0001285HP:0001285Spastic tetraparesis0STAMBP CL E G H1061716950OMIM:614261Microcephaly-Capillary malformation syndrome.24
HP:0001285HP:0001285Spastic tetraparesis0STXBP1 CL E G H681211444ORPHA:4958189q33.3q34.11 microdeletion syndromeHP:0040283 - Occasional237
HP:0001285HP:0001285Spastic tetraparesis0TACO1 CL E G H5120424316OMIM:619052MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 8; MC4DN823
HP:0001285HP:0001285Spastic tetraparesis0TBCE CL E G H690511582ORPHA:496756Early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndromeHP:0040283 - Occasional52
HP:0001285HP:0001285Spastic tetraparesis0TMEM222 CL E G H8406525363OMIM:619470NEURODEVELOPMENTAL DISORDER WITH MOTOR AND SPEECH DELAY AND BEHAVIORAL ABNORMALITIES; NEDMOSBA
HP:0001285HP:0001285Spastic tetraparesis0TNR CL E G H714311953OMIM:619653NEURODEVELOPMENTAL DISORDER, NONPROGRESSIVE, WITH SPASTICITY AND TRANSIENT OPISTHOTONUS; NEDSTO7
HP:0001285HP:0001285Spastic tetraparesis0TRAPPC4 CL E G H5139919943OMIM:618741NEURODEVELOPMENTAL DISORDER WITH EPILEPSY, SPASTICITY, AND BRAIN ATROPHY; NEDESBA1
HP:0001285HP:0001285Spastic tetraparesis0WDR62 CL E G H28440324502OMIM:604317Microcephaly 2, primary, autosomal recessive, with or without cortical malformations.224


Genes (68) :AASS ABCD1 ADAR AFF3 ALG3 ALS2 APOE ARX ATP6 ATP6V1A AUH COA8 DYM EARS2 EIF2S3 ERLIN2 EXOSC8 FA2H FAR1 FBLN1 GM2A GSS GUF1 HSD17B10 IFIH1 KCNJ6 KCNQ2 L2HGDH LIPT1 LIPT2 LMNB1 LMX1B LYRM7 MFSD2A MOCS1 MRM2 NFU1 NUP62 PAFAH1B1 PHACTR1 PLA2G6 PLP1 PRDM8 PRPS1 PRUNE1 PSAP PSAT1 PSEN1 REEP1 RERE RNU7-1 SDHA SDHAF1 SDHB SDHD SLC18A2 SLC35A2 SMC1A SOD1 SOX4 STAMBP STXBP1 TACO1 TBCE TMEM222 TNR TRAPPC4 WDR62

Diseases (69) :ORPHA:2203 ORPHA:139396 ORPHA:225154 OMIM:619297 ORPHA:79321 OMIM:205100 ORPHA:247604 OMIM:606353 OMIM:607822 OMIM:308350 OMIM:618012 ORPHA:67046 OMIM:619061 ORPHA:436271 ORPHA:239 OMIM:614924 OMIM:300148 OMIM:616081 ORPHA:171629 OMIM:612319 ORPHA:438178 OMIM:616154 ORPHA:404451 OMIM:272750 OMIM:266130 OMIM:617065 ORPHA:391428 OMIM:615846 OMIM:614098 ORPHA:435628 OMIM:613720 ORPHA:79314 OMIM:236792 OMIM:616299 OMIM:617668 OMIM:619179 ORPHA:495818 OMIM:615838 OMIM:616486 OMIM:252150 OMIM:618567 OMIM:605711 OMIM:607432 OMIM:618298 ORPHA:35069 ORPHA:280219 ORPHA:280224 ORPHA:324290 ORPHA:423479 OMIM:617481 ORPHA:544469 OMIM:249900 ORPHA:284417 ORPHA:101011 OMIM:616975 OMIM:619487 ORPHA:3208 ORPHA:352649 ORPHA:356961 OMIM:301044 OMIM:618598 OMIM:618506 OMIM:614261 OMIM:619052 ORPHA:496756 OMIM:619470 OMIM:619653 OMIM:618741 OMIM:604317
 

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