Spinocerebellar ataxia, autosomal recessive 4

Preferred Label : Spinocerebellar ataxia, autosomal recessive 4;

Symbol : SCAR4;

CISMeF acronym : SCA24; SCA4; SCAR4;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Spinocerebellar ataxia 24; SCA24; Spinocerebellar ataxia with saccadic intrusions; SCASI;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the vacuolar protein sorting 13 homolog D gene (VPS13D, 608877.0001);

Prefixed ID : #607317;

Details

Origin ID

607317;

UMLS CUI

C1846492;

Automatic exact mappings (from CISMeF team)
- Spinocerebellar ataxia type 4 [ORDO Disease]
- spinocerebellar ataxia with saccadic intrusions [HGNC gene]
- spinocerebellar ataxias [MeSH Descriptor]
Currated CISMeF NLP mapping
- Autosomal recessive cerebellar ataxia-movement disorder syndrome [ORDO Disease]
- Spinocerebellar ataxia, autosomal recessive 4 [MeSH concept]
- autosomal recessive spinocerebellar ataxia 4 [DO Concept]
- spinocerebellar ataxia, autosomal recessive 4 [MeSH Supplementary Concept]
DO Cross reference
- autosomal recessive spinocerebellar ataxia 4 [DO Concept]
Genes related to phenotype
- Vacuolar protein sorting 13 homolog D [OMIM gene]
HPO term(s)
- Abnormal cerebral white matter morphology [HPO term]
- Adult onset [HPO term]
- Ataxia [HPO term]
- Autosomal recessive inheritance [HPO term]
- Babinski sign [HPO term]
- Distal amyotrophy [HPO term]
- Distal muscle weakness [HPO term]
- Dysarthria [HPO term]
- Dystonia [HPO term]
- Fasciculations [HPO term]
- Frequent falls [HPO term]
- Gait ataxia [HPO term]
- Hypermetric saccades [HPO term]
- Hyperreflexia [HPO term]
- Intellectual disability, mild [HPO term]
- Macrosaccadic oscillations [HPO term]
- Microcephaly [HPO term]
- Motor delay [HPO term]
- Myoclonus [HPO term]
- Nystagmus [HPO term]
- Peripheral axonal neuropathy [HPO term]
- Pes cavus [HPO term]
- Spasticity [HPO term]
- Tremor [HPO term]
- Variable expressivity [HPO term]
ORDO concept(s)
- Autosomal recessive cerebellar ataxia-movement disorder syndrome [ORDO Disease]
See also inter- (CISMeF)
- spinocerebellar ataxia 24 [Disease (Nov.)]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Autosomal recessive cerebellar ataxia-movement disorder syndrome [ORDO Disease]
- Spinocerebellar ataxia, autosomal recessive 4 [MeSH concept]
- autosomal recessive spinocerebellar ataxia 4 [DO Concept]
- spinocerebellar ataxia, autosomal recessive 4 [MeSH Supplementary Concept]

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