Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 7

Preferred Label : Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 7;

Symbol : MDDGA7;

CISMeF acronym : MDDGA7;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Walker-warburg syndrome or muscle-eye-brain disease, ispd-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 alpha-dystroglycan (DAG1; 128239), collectively known as 'dystroglycanopathies' (summary by Roscioli et al., 2012). 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 isoprenoid synthase domain-containing protein gene (ISPD, 614631.0001);

Laboratory abnormalities : Increased serum creatine kinase;

Prefixed ID : #614643;

Details

Origin ID

614643;

UMLS CUI

C3553330;

Automatic exact mappings (from CISMeF team)
- congenital muscular dystrophy-dystroglycanopathy A7 [DO Concept]
DO Cross reference
- congenital muscular dystrophy-dystroglycanopathy A7 [DO Concept]
Genes related to phenotype
- Cdp-L-ribitol pyrophosphorylase a [OMIM gene]
HPO term(s)
- Adducted thumb [HPO term]
- Agyria [HPO term]
- Areflexia [HPO term]
- Autosomal recessive inheritance [HPO term]
- Cataract [HPO term]
- Cerebellar hypoplasia [HPO term]
- Dandy-Walker malformation [HPO term]
- Decreased fetal movement [HPO term]
- Deeply set eye [HPO term]
- Elevated circulating creatine kinase concentration [HPO term]
- Encephalocele [HPO term]
- Frontal bossing [HPO term]
- Generalized hypotonia [HPO term]
- Glaucoma [HPO term]
- Gray matter heterotopia [HPO term]
- Hydrocephalus [HPO term]
- Hypoplasia of the brainstem [HPO term]
- Hypoplasia of the corpus callosum [HPO term]
- Hypotonia [HPO term]
- Intellectual disability, profound [HPO term]
- Lissencephaly [HPO term]
- Low-set ears [HPO term]
- Macrocephaly [HPO term]
- Microphthalmia [HPO term]
- Microtia [HPO term]
- Muscular dystrophy [HPO term]
- Optic nerve hypoplasia [HPO term]
- Pachygyria [HPO term]
- Partial agenesis of the corpus callosum [HPO term]
- Peters anomaly [HPO term]
- Polymicrogyria [HPO term]
- Remnants of the hyaloid vascular system [HPO term]
- Retinal detachment [HPO term]
- Retinal dysplasia [HPO term]
- Retrognathia [HPO term]
- Subcortical heterotopia [HPO term]
- Type II lissencephaly [HPO term]
- Ventriculomegaly [HPO term]
ORDO concept(s)
- Walker-Warburg syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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