Spinocerebellar ataxia 44

Preferred Label : Spinocerebellar ataxia 44;

Symbol : SCA44;

CISMeF acronym : SCA44;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the glutamate receptor, metabotropic, 1 gene (GRM1, 604473.0002);

Prefixed ID : #617691;

Details

Origin ID

617691;

UMLS CUI

C4521563;

Currated CISMeF NLP mapping
- Spinocerebellar ataxia type 44 [ORDO Disease]
- spinocerebellar ataxia 44 [DO Concept]
DO Cross reference
- spinocerebellar ataxia 44 [DO Concept]
Genes related to phenotype
- Glutamate receptor, metabotropic, 1 [OMIM gene]
HPO term(s)
- Ataxia [HPO term]
- Autosomal dominant inheritance [HPO term]
- Brisk reflexes [HPO term]
- Cerebellar atrophy [HPO term]
- Delayed speech and language development [HPO term]
- Dysarthria [HPO term]
- Dysdiadochokinesis [HPO term]
- Dysmetria [HPO term]
- Dysphagia [HPO term]
- Frequent falls [HPO term]
- Gait ataxia [HPO term]
- Hypermetric saccades [HPO term]
- Motor delay [HPO term]
- Slowly progressive [HPO term]
- Spasticity [HPO term]
- Tinnitus [HPO term]
See also inter- (CISMeF)
- SCA 44 [MeSH Supplementary Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients