Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1

Preferred Label : Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1;

Symbol : MDDGA1;

CISMeF acronym : MDDGA1;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Hydrocephalus, agyria, and retinal dysplasia; Walker-warburg syndrome or muscle-eye-brain disease, pomt1-related; Cod-MD syndrome; Hard syndrome; Cerebroocular dysplasia-muscular dystrophy syndrome;

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 a genetically heterogeneous autosomal recessive disorder with characteristic brain and eye malformations, profound mental retardation, congenital muscular dystrophy, and early death. The phenotype commonly includes cobblestone (type II) lissencephaly, cerebellar malformations, and retinal malformations. More variable features include macrocephaly or microcephaly, hypoplasia of midline brain structures, ventricular dilatation, microphthalmia, cleft lip/palate, and congenital contractures (Dobyns et al., 1989). Those with a more severe phenotype characterized as Walker-Warburg syndrome often die within the first year of life, whereas those characterized as having muscle-eye-brain disease may rarely acquire the ability to walk and to speak a few words. These are part of a group of disorders resulting from defective glycosylation of DAG1 (128239), collectively known as 'dystroglycanopathies' (Godfrey et al., 2007). - Genetic Heterogeneity of Congenital Muscular Dystrophy-Dystroglycanopathy with Brain and Eye Anomalies (Type A) Muscular dystrophy-dystroglycanopathy with brain and eye anomalies (type A) is genetically heterogeneous and can be caused by mutation in other genes involved in DAG1 glycosylation: see MDDGA2 (613150), caused by mutation in the POMT2 gene (607439); MDDGA3 (253280), caused by mutation in the POMGNT1 gene (606822); MDDGA4 (253800), caused by mutation in the;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the protein O-mannosyltransferase-1 gene (POMT1, 607423.0001);

Laboratory abnormalities : Elevated serum creatine kinase;

Prefixed ID : #236670;

Details

Origin ID

236670;

UMLS CUI

C4284790;

Automatic exact mappings (from CISMeF team)
- Walker-Warburg congenital muscular dystrophy (disorder) [SNOMED CT concept]
- Walker-Warburg syndrome [MeSH Descriptor]
- Walker-Warburg syndrome [DO Concept]
- Walker-Warburg syndrome [ORDO Disease]
- warburg syndrome [SNOMED Notion]
Currated CISMeF NLP mapping
- Muscle-eye-brain disease [ORDO Disease]
- Muscle-eye-brain disease, congenital muscular dystrophy (disorder) [SNOMED CT concept]
- Muscular Dystrophy-Dystroglycanopathy (Congenital with Brain and Eye Anomalies) Type A, 1 [NCIt concept]
- congenital muscular dystrophy-dystroglycanopathy type A1 [DO Concept]
DO Cross reference
- congenital muscular dystrophy-dystroglycanopathy type A1 [DO Concept]
Genes related to phenotype
- Protein o-mannosyltransferase 1 [OMIM gene]
HPO term(s)
- Absent speech [HPO term]
- Agenesis of corpus callosum [HPO term]
- Agyria [HPO term]
- Anal atresia [HPO term]
- Anterior chamber malformation [HPO term]
- Atresia of the external auditory canal [HPO term]
- Autosomal recessive inheritance [HPO term]
- Blindness [HPO term]
- Buphthalmos [HPO term]
- Cataract [HPO term]
- Cerebellar dysplasia [HPO term]
- Cerebellar hypoplasia [HPO term]
- Cerebellar malformation [HPO term]
- Cleft palate [HPO term]
- Cleft upper lip [HPO term]
- Coloboma [HPO term]
- Congenital contracture [HPO term]
- Congenital muscular dystrophy [HPO term]
- Congenital onset [HPO term]
- Corneal opacity [HPO term]
- Cryptorchidism [HPO term]
- Dandy-Walker malformation [HPO term]
- Elevated circulating creatine kinase concentration [HPO term]
- Excessive daytime sleepiness [HPO term]
- Excessive daytime somnolence [HPO term]
- Feeding difficulties in infancy [HPO term]
- Glaucoma [HPO term]
- Global developmental delay [HPO term]
- Hydrocephalus [HPO term]
- Hypoplasia of the brainstem [HPO term]
- Hypoplasia of the corpus callosum [HPO term]
- Hypoplastic male external genitalia [HPO term]
- Hypotonia [HPO term]
- Intellectual disability, profound [HPO term]
- Intellectual disability, severe [HPO term]
- Kinked brainstem [HPO term]
- Low-set ears [HPO term]
- Mask-like facies [HPO term]
- Megalocornea [HPO term]
- Meningoencephalocele [HPO term]
- Microcephaly [HPO term]
- Micrognathia [HPO term]
- Microphthalmia [HPO term]
- Microtia [HPO term]
- Microtia [HPO term]
- Myopia [HPO term]
- Neonatal hypotonia [HPO term]
- Occipital encephalocele [HPO term]
- Optic atrophy [HPO term]
- Optic nerve hypoplasia [HPO term]
- Pachygyria [HPO term]
- Peters anomaly [HPO term]
- Polymicrogyria [HPO term]
- Posterior fossa cyst [HPO term]
- Renal dysplasia [HPO term]
- Retinal atrophy [HPO term]
- Retinal detachment [HPO term]
- Retinal dysplasia [HPO term]
- Seizure [HPO term]
- Severe muscular hypotonia [HPO term]
- Sloping forehead [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, 1 [NCIt concept]
- Walker Warburg syndrome [Disease (Nov.)]
- Walker-Warburg Syndrome [NCIt concept]
- Walker-Warburg congenital muscular dystrophy (disorder) [SNOMED CT concept]
- Walker-Warburg syndrome [MeSH Descriptor]
- Walker-Warburg syndrome [MeSH concept]
- Walker-Warburg syndrome [ORDO Disease]
- Walker-Warburg syndrome [DO Concept]
- Walker-Warburg syndrome [PASCAL descriptor]
- Warburg syndrome (disorder) [SNOMED CT concept]
- warburg syndrome [SNOMED Notion]

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