Cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 4

Preferred Label : Cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 4;

Symbol : CAMRQ4;

CISMeF acronym : CAMRQ4;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Cerebellar ataxia and mental retardation with or without quadrupedal locomotion 4; Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 4;

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 ATPase, class I, type 8A, member 2 gene (ATP8A2, 605870.0001);

Prefixed ID : #615268;

Details

Origin ID

615268;

UMLS CUI

C3808977;

Automatic exact mappings (from CISMeF team)
- ATP8A2 wt Allele [NCIt concept]
DO Cross reference
- cerebellar ataxia, mental retardation and dysequlibrium syndrome [DO Concept]
Genes related to phenotype
- Atpase, class I, type 8a, member 2 [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Cerebellar atrophy [HPO term]
- Cerebral atrophy [HPO term]
- Congenital onset [HPO term]
- Corpus callosum atrophy [HPO term]
- Dysarthria [HPO term]
- Inability to walk [HPO term]
- Intellectual disability [HPO term]
- Truncal ataxia [HPO term]
ORDO concept(s)
- Dysequilibrium syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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