Human Phenotype Ontology 
Grandparent Node:
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Abnormality of movement (HP:0100022)help
Parent Node:
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Dyskinesia (HP:0100660)help
..Starting node
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Orofacial dyskinesia (HP:0002310)help
Term ID: 2310
Name: Orofacial dyskinesia
Synonym: Orofacial dyskinesias
Definition:
Comments:
Reference: HP:0002310
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandExtrapyramidal dyskinesia (HP:0007308) help
..expandTardive dyskinesia (HP:0040141) 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:0002310HP:0002310Orofacial dyskinesia0AARS1 CL E G H1620OMIM:616339Epileptic encephalopathy, early infantile, 29
HP:0002310HP:0002310Orofacial dyskinesia0ADCY5 CL E G H111236ORPHA:324588Familial dyskinesia and facial myokymiaHP:0040281 - Very frequent25
HP:0002310HP:0002310Orofacial dyskinesia0ATXN7 CL E G H631410560OMIM:164500Spinocerebellar ataxia 7 opca III opca with retinal degeneration opca with macular degeneration and external ophthalmoplegia autosomal dominant cerebellar ataxia, type II adca, type II.8
HP:0002310HP:0002310Orofacial dyskinesia0ATXN7 CL E G H631410560ORPHA:94147Spinocerebellar ataxia type 7HP:0040282 - Frequent8
HP:0002310HP:0002310Orofacial dyskinesia0CHMP2B CL E G H2597824537OMIM:600795Frontotemporal dementia and/or amytrophic lateral sclerosis 7.42
HP:0002310HP:0002310Orofacial dyskinesia0COQ2 CL E G H2723525223ORPHA:227510Multiple system atrophy, cerebellar typeHP:0040282 - Frequent54
HP:0002310HP:0002310Orofacial dyskinesia0COQ2 CL E G H2723525223ORPHA:98933Multiple system atrophy, parkinsonian typeHP:0040282 - Frequent54
HP:0002310HP:0002310Orofacial dyskinesia0CYP27A1 CL E G H15932605ORPHA:909Cerebrotendinous xanthomatosisHP:0040282 - Frequent114
HP:0002310HP:0002310Orofacial dyskinesia0EXOSC5 CL E G H5691524662OMIM:619576CEREBELLAR ATAXIA, BRAIN ABNORMALITIES, AND CARDIAC CONDUCTION DEFECTS; CABAC
HP:0002310HP:0002310Orofacial dyskinesia0FGF14 CL E G H22593671OMIM:193003Nystagmus 4, congenital, autosomal dominant47
HP:0002310HP:0002310Orofacial dyskinesia0FTL CL E G H25123999ORPHA:157846NeuroferritinopathyHP:0040282 - Frequent33
HP:0002310HP:0002310Orofacial dyskinesia0GBA2 CL E G H5770418986OMIM:614409Spastic paraplegia 46, autosomal recessive30
HP:0002310HP:0002310Orofacial dyskinesia0GNAO1 CL E G H27754389OMIM:617493Neurodevelopmental disorder with involuntary movements.36
HP:0002310HP:0002310Orofacial dyskinesia0IREB2 CL E G H36586115OMIM:618451Neurodegeneration, early-onset, with choreoathetoid movements and microcytic anemia.
HP:0002310HP:0002310Orofacial dyskinesia0JAM2 CL E G H5849414686OMIM:618824BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 8, AUTOSOMAL RECESSIVE; IBGC8
HP:0002310HP:0002310Orofacial dyskinesia0LRPPRC CL E G H1012815714ORPHA:70472Congenital lactic acidosis, Saguenay-Lac-Saint-Jean typeHP:0040283 - Occasional191
HP:0002310HP:0002310Orofacial dyskinesia0MICU1 CL E G H103671530OMIM:615673Myopathy with extrapyramidal signs14
HP:0002310HP:0002310Orofacial dyskinesia0MICU1 CL E G H103671530ORPHA:401768Proximal myopathy with extrapyramidal signsHP:0040282 - Frequent14
HP:0002310HP:0002310Orofacial dyskinesia0MRE11 CL E G H43617230ORPHA:251347Ataxia-telangiectasia-like disorderHP:0040282 - Frequent532
HP:0002310HP:0002310Orofacial dyskinesia0PANK2 CL E G H8002515894OMIM:607236Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa,and pallidal degeneration.55
HP:0002310HP:0002310Orofacial dyskinesia0PANK2 CL E G H8002515894OMIM:234200Neurodegeneration with brain iron accumulation 1.55
HP:0002310HP:0002310Orofacial dyskinesia0PDE10A CL E G H108468772OMIM:616921Dyskinesia, limb and orofacial, infantile-onset.5
HP:0002310HP:0002310Orofacial dyskinesia0PDE10A CL E G H108468772ORPHA:494526Infantile-onset generalized dyskinesia with orofacial involvementHP:0040281 - Very frequent5
HP:0002310HP:0002310Orofacial dyskinesia0PLP1 CL E G H53549086ORPHA:280219Pelizaeus-Merzbacher disease, classic formHP:0040283 - Occasional60
HP:0002310HP:0002310Orofacial dyskinesia0PNPT1 CL E G H8717823166ORPHA:319514Combined oxidative phosphorylation defect type 13HP:0040283 - Occasional60
HP:0002310HP:0002310Orofacial dyskinesia0PRKRA CL E G H85759438ORPHA:210571Dystonia 16HP:0040282 - Frequent37
HP:0002310HP:0002310Orofacial dyskinesia0PRRT2 CL E G H11247630500OMIM:128200Episodic kinesigenic dyskinesia 1.94
HP:0002310HP:0002310Orofacial dyskinesia0SLC18A2 CL E G H657110935ORPHA:352649Brain dopamine-serotonin vesicular transport diseaseHP:0040281 - Very frequent2
HP:0002310HP:0002310Orofacial dyskinesia0SLC35A1 CL E G H1055911021OMIM:603585Congenital disorder of glycosylation, type IIf.24
HP:0002310HP:0002310Orofacial dyskinesia0SLC6A3 CL E G H653111049ORPHA:238455Infantile dystonia-parkinsonismHP:0040282 - Frequent13
HP:0002310HP:0002310Orofacial dyskinesia0VPS13A CL E G H232301908OMIM:200150CHOREOACANTHOCYTOSIS.130


Genes (26) :AARS1 ADCY5 ATXN7 CHMP2B COQ2 CYP27A1 EXOSC5 FGF14 FTL GBA2 GNAO1 IREB2 JAM2 LRPPRC MICU1 MRE11 PANK2 PDE10A PLP1 PNPT1 PRKRA PRRT2 SLC18A2 SLC35A1 SLC6A3 VPS13A

Diseases (31) :OMIM:616339 ORPHA:324588 OMIM:164500 ORPHA:94147 OMIM:600795 ORPHA:227510 ORPHA:98933 ORPHA:909 OMIM:619576 OMIM:193003 ORPHA:157846 OMIM:614409 OMIM:617493 OMIM:618451 OMIM:618824 ORPHA:70472 OMIM:615673 ORPHA:401768 ORPHA:251347 OMIM:607236 OMIM:234200 OMIM:616921 ORPHA:494526 ORPHA:280219 ORPHA:319514 ORPHA:210571 OMIM:128200 ORPHA:352649 OMIM:603585 ORPHA:238455 OMIM:200150
 

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