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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Opisthotonus (HP:0002179)help
Term ID: 2179
Name: Opisthotonus
Synonym: Opisthotonos
Definition:
Comments:
Reference: HP:0002179
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandClasp-knife sign (HP:0031866) help
..expandLower limb spasticity (HP:0002061) 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 tetraparesis (HP:0001285) 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:0002179HP:0002179Opisthotonus0AASS CL E G H1015717366ORPHA:2203HyperlysinemiaHP:0040283 - Occasional15
HP:0002179HP:0002179Opisthotonus0ADSL CL E G H158291OMIM:103050Adenylosuccinase deficiency.118
HP:0002179HP:0002179Opisthotonus0ALG11 CL E G H44013832456ORPHA:280071ALG11-CDGHP:0040283 - Occasional41
HP:0002179HP:0002179Opisthotonus0ALG11 CL E G H44013832456OMIM:613661Congenital disorder of glycosylation, type Ip.41
HP:0002179HP:0002179Opisthotonus0ALS2 CL E G H57679443OMIM:205100Amyotrophic lateral sclerosis 2, juvenile114
HP:0002179HP:0002179Opisthotonus0ALS2 CL E G H57679443ORPHA:300605Juvenile amyotrophic lateral sclerosisHP:0040283 - Occasional114
HP:0002179HP:0002179Opisthotonus0ASPA CL E G H443756OMIM:271900Canavan disease48
HP:0002179HP:0002179Opisthotonus0CARS2 CL E G H7958725695OMIM:616672Combined oxidative phosphorylation deficiency 27.35
HP:0002179HP:0002179Opisthotonus0CLPB CL E G H8157030664ORPHA:4450383-methylglutaconic aciduria type 7HP:0040282 - Frequent38
HP:0002179HP:0002179Opisthotonus0CLPB CL E G H8157030664OMIM:6162713-Methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia38
HP:0002179HP:0002179Opisthotonus0CRLF1 CL E G H92442364OMIM:272430Crisponi/cold-induced sweating syndrome 1.24
HP:0002179HP:0002179Opisthotonus0CYB5R3 CL E G H17272873OMIM:250800Methemoglobinemia due to deficiency of methemoglobin reductase.24
HP:0002179HP:0002179Opisthotonus0DTYMK CL E G H18413061OMIM:619847
HP:0002179HP:0002179Opisthotonus0EXTL3 CL E G H21373518ORPHA:508533Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndromeHP:0040283 - Occasional3
HP:0002179HP:0002179Opisthotonus0FUS CL E G H25214010ORPHA:300605Juvenile amyotrophic lateral sclerosisHP:0040283 - Occasional105
HP:0002179HP:0002179Opisthotonus0FUZ CL E G H8019926219ORPHA:1136Arnold-Chiari malformation type IIHP:0040284 - Very rare3
HP:0002179HP:0002179Opisthotonus0GALC CL E G H25814115ORPHA:206436Infantile Krabbe diseaseHP:0040283 - Occasional160
HP:0002179HP:0002179Opisthotonus0GBA1 CL E G H26294177OMIM:608013Gaucher disease, perinatal lethal.
HP:0002179HP:0002179Opisthotonus0GCDH CL E G H26394189OMIM:231670Glutaric acidemia I.115
HP:0002179HP:0002179Opisthotonus0GLYCTK CL E G H13215824247OMIM:220120D-GLYCERIC ACIDURIA.6
HP:0002179HP:0002179Opisthotonus0GRIK2 CL E G H28984580OMIM:619580NEURODEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND ATAXIA AND WITH OR WITHOUT SEIZURES; NEDLAS32
HP:0002179HP:0002179Opisthotonus0GRIN1 CL E G H29024584OMIM:619814DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 101; DEE101108
HP:0002179HP:0002179Opisthotonus0HPRT1 CL E G H32515157OMIM:300322Lesch-Nyhan syndrome.76
HP:0002179HP:0002179Opisthotonus0KCNC2 CL E G H37476234OMIM:619913
HP:0002179HP:0002179Opisthotonus0KCNJ6 CL E G H37636267ORPHA:435628Keppen-Lubinsky syndromeHP:0040282 - Frequent3
HP:0002179HP:0002179Opisthotonus0MCCC1 CL E G H569226936OMIM:2102003-Methylcrotonyl-CoA carboxylase 1 deficiency.81
HP:0002179HP:0002179Opisthotonus0MCCC2 CL E G H640876937OMIM:2102103-Methylcrotonyl-CoA carboxylase 2 deficiency.77
HP:0002179HP:0002179Opisthotonus0MOCS1 CL E G H43377190OMIM:252150Molybdenum cofactor deficiency, complementation group A.96
HP:0002179HP:0002179Opisthotonus0MOCS2 CL E G H43387193OMIM:252160Molybdenum cofactor deficiency, complementation group B.26
HP:0002179HP:0002179Opisthotonus0NDE1 CL E G H5482017619ORPHA:2177HydranencephalyHP:0040282 - Frequent96
HP:0002179HP:0002179Opisthotonus0NDUFA8 CL E G H47027692OMIM:619272MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 37; MC1DN37
HP:0002179HP:0002179Opisthotonus0NFU1 CL E G H2724716287OMIM:605711Multiple mitochondrial dysfunctions syndrome 134
HP:0002179HP:0002179Opisthotonus0OPA1 CL E G H49768140OMIM:616896MITOCHONDRIAL DNA DEPLETION SYNDROME 14 (CARDIOENCEPHALOMYOPATHIC TYPE); MTDPS14214
HP:0002179HP:0002179Opisthotonus0PAFAH1B1 CL E G H50488574ORPHA:95232Lissencephaly due to LIS1 mutationHP:0040283 - Occasional231
HP:0002179HP:0002179Opisthotonus0PANK2 CL E G H8002515894ORPHA:216866Classic pantothenate kinase-associated neurodegenerationHP:0040283 - Occasional55
HP:0002179HP:0002179Opisthotonus0POU3F3 CL E G H54559216OMIM:618604SNIJDERS BLOK-FISHER SYNDROME; SNIBFIS
HP:0002179HP:0002179Opisthotonus0PSAP CL E G H56609498ORPHA:206436Infantile Krabbe diseaseHP:0040283 - Occasional81
HP:0002179HP:0002179Opisthotonus0PTS CL E G H58059689ORPHA:136-pyruvoyl-tetrahydropterin synthase deficiencyHP:0040282 - Frequent19
HP:0002179HP:0002179Opisthotonus0SETBP1 CL E G H2604015573OMIM:269150Schinzel-Giedion midface-retraction syndrome.143
HP:0002179HP:0002179Opisthotonus0SIGMAR1 CL E G H102808157ORPHA:300605Juvenile amyotrophic lateral sclerosisHP:0040283 - Occasional6
HP:0002179HP:0002179Opisthotonus0SLC19A3 CL E G H8070416266OMIM:607483Thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive encephalopathy type 2)110
HP:0002179HP:0002179Opisthotonus0SLC39A14 CL E G H2351620858OMIM:617013Hypermanganesemia with dystonia 25
HP:0002179HP:0002179Opisthotonus0SPG11 CL E G H8020811226ORPHA:300605Juvenile amyotrophic lateral sclerosisHP:0040283 - Occasional287
HP:0002179HP:0002179Opisthotonus0SPTLC1 CL E G H1055811277ORPHA:300605Juvenile amyotrophic lateral sclerosisHP:0040283 - Occasional54
HP:0002179HP:0002179Opisthotonus0TNR CL E G H714311953OMIM:619653NEURODEVELOPMENTAL DISORDER, NONPROGRESSIVE, WITH SPASTICITY AND TRANSIENT OPISTHOTONUS; NEDSTO7
HP:0002179HP:0002179Opisthotonus0TOE1 CL E G H11403415954OMIM:614969Pontocerebellar hypoplasia, type 76
HP:0002179HP:0002179Opisthotonus0TSEN2 CL E G H8074628422OMIM:612389Pontocerebellar hypoplasia, type 2B.84
HP:0002179HP:0002179Opisthotonus0TSEN54 CL E G H28398927561OMIM:277470Pontocerebellar hypoplasia, type 2A.102
HP:0002179HP:0002179Opisthotonus0TUFM CL E G H728412420OMIM:610678Combined oxidative phosphorylation deficiency 455
HP:0002179HP:0002179Opisthotonus0UGDH CL E G H735812525OMIM:618792DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 84; DEE84
HP:0002179HP:0002179Opisthotonus0VPS50 CL E G H5561025956OMIM:619685NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, SEIZURES, AND NEONATAL CHOLESTASIS; NEDMSC
HP:0002179HP:0002179Opisthotonus0VPS53 CL E G H5527525608OMIM:615851Pontocerebellar hypoplasia, type 2E26


Genes (49) :AASS ADSL ALG11 ALS2 ASPA CARS2 CLPB CRLF1 CYB5R3 DTYMK EXTL3 FUS FUZ GALC GBA1 GCDH GLYCTK GRIK2 GRIN1 HPRT1 KCNC2 KCNJ6 MCCC1 MCCC2 MOCS1 MOCS2 NDE1 NDUFA8 NFU1 OPA1 PAFAH1B1 PANK2 POU3F3 PSAP PTS SETBP1 SIGMAR1 SLC19A3 SLC39A14 SPG11 SPTLC1 TNR TOE1 TSEN2 TSEN54 TUFM UGDH VPS50 VPS53

Diseases (47) :ORPHA:2203 OMIM:103050 ORPHA:280071 OMIM:613661 OMIM:205100 ORPHA:300605 OMIM:271900 OMIM:616672 ORPHA:445038 OMIM:616271 OMIM:272430 OMIM:250800 OMIM:619847 ORPHA:508533 ORPHA:1136 ORPHA:206436 OMIM:608013 OMIM:231670 OMIM:220120 OMIM:619580 OMIM:619814 OMIM:300322 OMIM:619913 ORPHA:435628 OMIM:210200 OMIM:210210 OMIM:252150 OMIM:252160 ORPHA:2177 OMIM:619272 OMIM:605711 OMIM:616896 ORPHA:95232 ORPHA:216866 OMIM:618604 ORPHA:13 OMIM:269150 OMIM:607483 OMIM:617013 OMIM:619653 OMIM:614969 OMIM:612389 OMIM:277470 OMIM:610678 OMIM:618792 OMIM:619685 OMIM:615851
 

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