Muscular Dystrophy-Dystroglycanopathy , Type a, 1 (MDDGA1)

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OMIM 56 236670 OMIM Phenotypic Series 56 PS236670 MeSH 43 D058494

MedGen 41 C0265221 C4284790 SNOMED-CT via HPO 68 128306009 128602000 128613002 129565002 14447001 16026008 171131006 193570009 204043002 204108000 204113001 204118005 204153003 204712000 204731006 204949001 22066006 22325002 224958001 23024003 230745008 23986001 240059009 246545002 246635007 246920008 247053007 253149002 258211005 268158009 271611007 274521009 274523007 30915001 31216003 313307000 35045004 386806002 397540003 398151007 398152000 405722004 40700009 413728006 413921009 41581000 42059000 42376006 4945003 5102002 52330001 56731001 57190000 61142002 63567004 64634000 65956007 76976005 7973008 80281008 84757009 87979003 91175000 92828000 93390002 95494009 95499004 95695004 95735008 more UMLS 71 C0265221 C0457133

OMIM : ⁵⁶ 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). (236670)

MalaCards based summary : Muscular Dystrophy-Dystroglycanopathy , Type a, 1, also known as muscle-eye-brain disease, is related to congenital muscular dystrophy-dystroglycanopathy type a2 and congenital muscular dystrophy-dystroglycanopathy a14, and has symptoms including seizures An important gene associated with Muscular Dystrophy-Dystroglycanopathy , Type a, 1 is POMT1 (Protein O-Mannosyltransferase 1), and among its related pathways/superpathways are Metabolism and Metabolism of proteins. Affiliated tissues include brain, eye and cerebellum, and related phenotypes are neurological speech impairment and hydrocephalus

UniProtKB/Swiss-Prot : ⁷³ Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A1: An autosomal recessive disorder characterized by congenital muscular dystrophy associated with cobblestone lissencephaly and other brain anomalies, eye malformations, profound mental retardation, and death usually in the first years of life. Included diseases are the more severe Walker-Warburg syndrome and the slightly less severe muscle- eye-brain disease.

Clinical features from OMIM:

236670

#	Description	GenomeRNAi Source Accession	Score	Top Affiliating Genes
1	Increased IL-8 secretion	GR00386-A-2	8.8	B4GAT1 FKRP FKTN

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