| Disease Browser
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Parent Node:
 Dyskinesias (D020820) | Parent Node:
Muscle Spasticity (D009128) | ..Starting node
.. Choreoathetosis/Spasticity, Episodic (C563401)
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Child Nodes:
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Sister Nodes: | ..Ataxia, Spastic, with Congenital Miosis (C566247)
| ..Brooks-Wisniewski-Brown Syndrome (C563154)
| ..Cerebroretinal Microangiopathy with Calcifications and Cysts (C567401)
| ..Choreoathetosis/Spasticity, Episodic (C563401)
| ..Diaminopentanuria (C565630)
| ..Encephalopathy, Spastic Tetraparesis, and Hypogonadism (C565722)
| ..Fitzsimmons Walson Mellor syndrome (C537937)
| ..Koone Rizzo Elias syndrome (C537023)
| ..Mental Retardation with Psychosis, Pyramidal Signs, and Macroorchidism (C564724)
| ..Mental Retardation, Severe, With Spasticity And Pigmentary Tapetoretinal Degeneration (C566429)
| ..Methylenetetrahydrofolate reductase deficiency (C537357)
| ..Opticocochleodentate Degeneration (C563002)
| ..Powell Venencie Gordon syndrome (C538358)
| ..Seemanova Lesny syndrome (C537536)
| ..Spastic Ataxia (C564815)
| ..Spastic ataxia Charlevoix-Saguenay type (C536787)
| ..Wells Jankovic syndrome (C536692)
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Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM, CTD
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| Term ID: | 2154 |
| Name: | Choreoathetosis/Spasticity, Episodic |
| Definition: | |
| Alternative IDs: | OMIM:601042 |
| ParentIDs: | MESH:D009128|MESH:D020820 |
| TreeNumbers: | C05.651.512/C563401 |C10.228.662.262/C563401 |C10.597.350/C563401 |C10.597.613.550.550/C563401 |C23.888.592.350/C563401 |C23.888.592.608.550.550/C563401 |
| Synonyms: | Choreoathetosis, Kinesigenic, with Episodic Ataxia And Spasticity |Choreoathetosis, Paroxysmal, with Episodic Ataxia |CHOREOATHETOSIS/SPASTICITY, EPISODIC |CSE CHOREOATHETOSIS, PAROXYSMAL, WITH EPISODIC ATAXIA |Dystonia 9 |DYT9 |
| Slim Mappings: | Musculoskeletal disease|Nervous system disease|Signs and symptoms |
| Reference: |
MedGen: C563401
MeSH: C563401
OMIM: 601042;
Genes: SLC2A1; | | Phenotypes | | | Disease Causing ClinVar Variants | | Variation_Name | GeneID | GeneSymbol | ClinicalSignificance | dbSNP | RCVaccession | TestedInGTR | PhenotypeIDs | Chromosome | Start | Stop | HGVS_c | HGVS_p | HGVS_g | OtherIDs | Disease_ClinVar | Disease_hgmd | | NM_006516.2(SLC2A1):c.634C>T (p.Arg212Cys) | 6513 | SLC2A1 | Pathogenic | 387907312 | RCV000030840; | N | Gene:1433,MedGen:C1832855,OMIM:601042,ORPHA:53583 | 1 | 43395589 | 43395589 | NM_006516.2:c.634C>T | NP_006507.2:p.Arg212Cys | NC_000001.10:g.43395589G>A | OMIM Allelic Variant:138140.0018 | C1832855 601042 Choreoathetosis/spasticity, episodic | | | | NM_006516.2(SLC2A1):c.376C>T (p.Arg126Cys) | 6513 | SLC2A1 | Pathogenic | 80359818 | RCV000017498; RCV000030838; RCV000030839; RCV000178276; RCV000081431; | N | Gene:1433,MedGen:C1832855,OMIM:601042,ORPHA:53583; MedGen:C1842534,OMIM:612126,ORPHA:98811; MedGen:C1847501,OMIM:606777,ORPHA:71277; MedGen:C3553859,OMIM:614847; MedGen:CN221809 | 1 | 43396437 | 43396437 | NM_006516.2:c.376C>T | NP_006507.2:p.Arg126Cys | NC_000001.10:g.43396437G>A | HGMD:CM044064,OMIM Allelic Variant:138140.0014 | C1832855 601042 Choreoathetosis/spasticity, episodic; C3553859 614847 Epilepsy, idiopathic generalized, susceptibility to, 12; C1847501 606777 Glucose transporter type 1 deficiency syndrome; C1842534 612126 GLUT1 deficiency syndrome 2; CN221809 not prov | | |
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