Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 5

Preferred Label : Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 5;

Symbol : MDDGA5;

CISMeF acronym : MDDGA5;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Walker-warburg syndrome or muscle-eye-brain disease, fkrp-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' (Beltran-Valero de Bernabe et al., 2004). 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 fukutin-related protein gene (FKRP, 606596.0016);

Laboratory abnormalities : Increased serum creatine kinase;

Prefixed ID : #613153;

Details

Origin ID

613153;

UMLS CUI

C3150413;

Automatic exact mappings (from CISMeF team)
- Muscle-eye-brain disease [ORDO Disease]
Currated CISMeF NLP mapping
- congenital muscular dystrophy-dystroglycanopathy type A5 [DO Concept]
DO Cross reference
- congenital muscular dystrophy-dystroglycanopathy type A5 [DO Concept]
Genes related to phenotype
- Fukutin-related protein [OMIM gene]
HPO term(s)
- Abnormal cerebral white matter morphology [HPO term]
- Agyria [HPO term]
- Autosomal recessive inheritance [HPO term]
- Cataract [HPO term]
- Cerebellar cyst [HPO term]
- Cerebellar dysplasia [HPO term]
- Cerebellar hypoplasia [HPO term]
- Coloboma [HPO term]
- Congenital onset [HPO term]
- Corneal opacity [HPO term]
- Dandy-Walker malformation [HPO term]
- Death in childhood [HPO term]
- Elevated circulating creatine kinase concentration [HPO term]
- Hydrocephalus [HPO term]
- Hypoplasia of the brainstem [HPO term]
- Hypoplasia of the pons [HPO term]
- Hyporeflexia [HPO term]
- Intellectual disability, profound [HPO term]
- Left ventricular hypertrophy [HPO term]
- Lissencephaly [HPO term]
- Microphthalmia [HPO term]
- Motor delay [HPO term]
- Muscular dystrophy [HPO term]
- Myopia [HPO term]
- Pachygyria [HPO term]
- Respiratory insufficiency [HPO term]
- Retinal detachment [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)
- congenital muscular dystrophy-dystroglycanopathy type A5 [DO Concept]

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