Spinocerebellar ataxia, autosomal recessive 34

Preferred Label : Spinocerebellar ataxia, autosomal recessive 34;

Symbol : SCAR34;

CISMeF acronym : CAMRQ3;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Cerebellar ataxia and mental retardation with or without quadrupedal locomotion 3; Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 3; CAMRQ3; Cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 3;

Description : Cerebellar ataxia, mental retardation, and dysequilibrium syndrome (CAMRQ) is a genetically heterogeneous disorder characterized by congenital cerebellar ataxia and mental retardation (summary by Gulsuner et al., 2011). For a discussion of genetic heterogeneity of CAMRQ, see CAMRQ1 (224050).;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the carbonic anhydrase VIII gene (CA8, 114815.0001);

Prefixed ID : #613227;

Details

Origin ID

613227;

UMLS CUI

C2750509;

Automatic exact mappings (from CISMeF team)
- cerebellar ataxia, mental retardation, and dysequilibrium syndrome 3 [MeSH Supplementary Concept]
- cerebellar ataxia, mental retardation, and dysequilibrium syndrome 3 [MeSH concept]
DO Cross reference
- cerebellar ataxia, mental retardation and dysequlibrium syndrome [DO Concept]
Genes related to phenotype
- Carbonic anhydrase VIII [OMIM gene]
HPO term(s)
- Ataxia [HPO term]
- Autosomal recessive inheritance [HPO term]
- Congenital onset [HPO term]
- Dysarthria [HPO term]
- Intellectual disability, mild [HPO term]
- Slurred speech [HPO term]
- Strabismus [HPO term]
- Tremor [HPO term]
ORDO concept(s)
- Dysequilibrium syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- cerebellar ataxia, mental retardation, and dysequilibrium syndrome 3 [MeSH Supplementary Concept]
- cerebellar ataxia, mental retardation, and dysequilibrium syndrome 3 [MeSH concept]

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