Episodic ataxia, type 6

Preferred Label : Episodic ataxia, type 6;

Symbol : EA6;

CISMeF acronym : EA6;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the solute carrier family 1 (glial high affinity glutamate transporter), member 3 gene (SLC1A3, 600111.0001);

Prefixed ID : #612656;

Détails

Origin ID

612656;

UMLS CUI

C2675211;

Automatic exact mappings (from CISMeF team)
- solute carrier family 1 member 3 [ORDO Gene]
- solute carrier family 1 member 3 [HGNC gene]
Currated CISMeF NLP mapping
- Episodic ataxia type 6 [ICD-11 More detail]
- Episodic ataxia type 6 [ORDO Disease]
- Episodic ataxia type 6 (disorder) [SNOMED CT concept]
- episodic ataxia type 6 [DO Concept]
- episodic ataxia, type 6 [MeSH concept]
- episodic ataxia, type 6 [MeSH Supplementary Concept]
DO Cross reference
- episodic ataxia type 6 [DO Concept]
Genes related to phenotype
- Solute carrier family 1 (glial high affinity glutamate transporter), member 3 [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Cerebellar hypoplasia [HPO term]
- Diplopia [HPO term]
- Dysarthria [HPO term]
- Episodic ataxia [HPO term]
- Generalized hypotonia [HPO term]
- Hemiparesis [HPO term]
- Hemiplegia [HPO term]
- Hypometric saccades [HPO term]
- Migraine [HPO term]
- Motor delay [HPO term]
- Nausea [HPO term]
- Nystagmus [HPO term]
- Phonophobia [HPO term]
- Photophobia [HPO term]
- Seizure [HPO term]
- Slurred speech [HPO term]
- Truncal ataxia [HPO term]
- Vertigo [HPO term]
- Vomiting [HPO term]
ORDO concept(s)
- Episodic ataxia type 6 [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Episodic ataxia type 6 [ORDO Disease]
- Episodic ataxia type 6 [ICD-11 More detail]
- Episodic ataxia type 6 (disorder) [SNOMED CT concept]
- episodic ataxia type 6 [DO Concept]
- episodic ataxia, type 6 [MeSH Supplementary Concept]
- episodic ataxia, type 6 [MeSH concept]

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