Spinocerebellar ataxia, autosomal recessive 8

Preferred Label : Spinocerebellar ataxia, autosomal recessive 8;

Symbol : SCAR8;

CISMeF acronym : ARCA1; SCAR8;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Cerebellar ataxia, autosomal recessive, type 1; Ataxia, recessive, of beauce; ARCA1;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the synaptic nuclear envelope protein-1 gene (SYNE1, 608441.0001);

Prefixed ID : #610743;

Détails

Origin ID

610743;

UMLS CUI

C1853116;

Currated CISMeF NLP mapping
- Autosomal recessive ataxia, Beauce type [ORDO Disease]
- autosomal recessive spinocerebellar ataxia 8 [DO Concept]
- spinocerebellar ataxia, autosomal recessive 8 [MeSH concept]
- spinocerebellar ataxia, autosomal recessive 8 [MeSH Supplementary Concept]
DO Cross reference
- autosomal recessive spinocerebellar ataxia 8 [DO Concept]
Genes related to phenotype
- Spectrin repeat-containing nuclear envelope protein 1 [OMIM gene]
HPO term(s)
- Adult onset [HPO term]
- Ataxia [HPO term]
- Autosomal recessive inheritance [HPO term]
- Cerebellar atrophy [HPO term]
- Dysarthria [HPO term]
- Dysmetria [HPO term]
- Gait ataxia [HPO term]
- Kyphosis [HPO term]
- Limb ataxia [HPO term]
- Nystagmus [HPO term]
- Peripheral axonal neuropathy [HPO term]
- Pes cavus [HPO term]
- Ptosis [HPO term]
- Scoliosis [HPO term]
- Slowly progressive [HPO term]
- Spasticity [HPO term]
- Strabismus [HPO term]
ORDO concept(s)
- Autosomal recessive ataxia, Beauce type [ORDO Disease]
See also inter- (CISMeF)
- SYNE1 wt Allele [NCIt concept]
- autosomal recessive cerebellar ataxia type 1 [MeSH Supplementary Concept]
- autosomal recessive cerebellar ataxia type 1 [MeSH concept]
- spectrin repeat containing nuclear envelope protein 1 [ORDO Gene]
- spectrin repeat containing nuclear envelope protein 1 [HGNC gene]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Autosomal recessive ataxia, Beauce type [ORDO Disease]
- autosomal recessive spinocerebellar ataxia 8 [DO Concept]
- spinocerebellar ataxia, autosomal recessive 8 [MeSH Supplementary Concept]
- spinocerebellar ataxia, autosomal recessive 8 [MeSH concept]

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