Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 6

Preferred Label : Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 6;

Symbol : MDDGA6;

CISMeF acronym : MDDGA6;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Walker-warburg syndrome or muscle-eye-brain disease, large-related;

Description : Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies (type A), which includes both the more severe Walker-Warburg syndrome (WWS) and the slightly less severe muscle-eye-brain disease (MEB), is an autosomal recessive disorder with characteristic brain and eye malformations, profound mental retardation, congenital muscular dystrophy, and death usually in the first years of life. It represents the most severe end of a phenotypic spectrum of similar disorders resulting from defective glycosylation of DAG1 (128239), collectively known as 'dystroglycanopathies' (Godfrey et al., 2007). For a general phenotypic description and a discussion of genetic heterogeneity of muscular dystrophy-dystroglycanopathy type A, see;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the acetylglucosaminyltransferase-like protein gene (LARGE, 603590.0003);

Laboratory abnormalities : Increased serum creatine kinase;

Prefixed ID : #613154;

Details

Origin ID

613154;

UMLS CUI

C3150414;

Automatic exact mappings (from CISMeF team)
- Muscle-eye-brain disease [ORDO Disease]
- congenital muscular dystrophy-dystroglycanopathy type A6 [DO Concept]
Currated CISMeF NLP mapping
- Muscular Dystrophy-Dystroglycanopathy (Congenital with Brain and Eye Anomalies) Type A, 6 [NCIt concept]
DO Cross reference
- congenital muscular dystrophy-dystroglycanopathy type A6 [DO Concept]
Genes related to phenotype
- Acetylglucosaminyltransferase-like protein [OMIM gene]
HPO term(s)
- Areflexia [HPO term]
- Autosomal recessive inheritance [HPO term]
- Cataract [HPO term]
- Dandy-Walker malformation [HPO term]
- Elevated circulating creatine kinase concentration [HPO term]
- Flexion contracture [HPO term]
- Hydrocephalus [HPO term]
- Hypoplasia of the pons [HPO term]
- Intellectual disability [HPO term]
- Muscular dystrophy [HPO term]
- Optic atrophy [HPO term]
- Retinal dysplasia [HPO term]
- Severe muscular hypotonia [HPO term]
- Type II lissencephaly [HPO term]
- Ventriculomegaly [HPO term]
ORDO concept(s)
- Muscle-eye-brain disease [ORDO Disease]
- Walker-Warburg syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Muscular Dystrophy-Dystroglycanopathy (Congenital with Brain and Eye Anomalies) Type A, 6 [NCIt concept]

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