Spinocerebellar ataxia 48

Preferred Label : Spinocerebellar ataxia 48;

Symbol : SCA48;

CISMeF acronym : SCA48;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the STIP1 homologous and U box-containing protein 1 gene (STUB1, 607207.0010);

Prefixed ID : #618093;

Details

Origin ID

618093;

UMLS CUI

C4748158;

Currated CISMeF NLP mapping
- Spinocerebellar ataxia type 48 [ORDO Disease]
- cerebellar ataxia type 48 [DO Concept]
DO Cross reference
- cerebellar ataxia type 48 [DO Concept]
Genes related to phenotype
- Stip1 homologous and u box-containing protein 1 [OMIM gene]
HPO term(s)
- Adult onset [HPO term]
- Anxiety [HPO term]
- Ataxia [HPO term]
- Autosomal dominant inheritance [HPO term]
- Babinski sign [HPO term]
- Bilateral tonic-clonic seizure [HPO term]
- Cachexia [HPO term]
- Cerebellar atrophy [HPO term]
- Chorea [HPO term]
- Depression [HPO term]
- Dysarthria [HPO term]
- Dysmetria [HPO term]
- Dysphagia [HPO term]
- Dystonia [HPO term]
- Gait ataxia [HPO term]
- Hyperreflexia [HPO term]
- Insomnia [HPO term]
- Irritability [HPO term]
- Mental deterioration [HPO term]
- Parkinsonism [HPO term]
- Progressive [HPO term]
- Tremor [HPO term]
- Urinary incontinence [HPO term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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