Muscular Dystrophy-Dystroglycanopathy , Type a, 12

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OMIM 57 615249 MedGen 42 C3808964 CN169987 MeSH 44 D058494

SNOMED-CT via HPO 69 258211005 230745008 60700002 246635007 397540003 7973008 128306009 193570009 247053007 95695004 204108000 61142002 92828000 93390002 246920008 128613002 246545002 313307000 84757009 91175000 224958001 5102002 205294008 16026008 203598005 385522000 55033002 57048009 7890003 88565003 111266001 64217002 193225000 73297009 253149002 13164000 78164000 more UMLS 73 C3808964

OMIM : ⁵⁷ Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies (type A) is an autosomal recessive disorder with congenital muscular dystrophy resulting in muscle weakness early in life and brain and eye anomalies. It is usually associated with delayed psychomotor development and shortened life expectancy. The phenotype includes the alternative clinical designations Walker-Warburg syndrome (WWS) and muscle-eye-brain disease (MEB). The disorder 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 Stevens et al., 2013). For a general phenotypic description and a discussion of genetic heterogeneity of muscular dystrophy-dystroglycanopathy type A, see MDDGA1 (236670). (615249)

MalaCards based summary : Muscular Dystrophy-Dystroglycanopathy , Type a, 12, is also known as mddga12. An important gene associated with Muscular Dystrophy-Dystroglycanopathy , Type a, 12 is POMK (Protein-O-Mannose Kinase). Affiliated tissues include brain and eye, and related phenotypes are agenesis of corpus callosum and hydrocephalus

UniProtKB/Swiss-Prot : ⁷⁵ Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A12: 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:

615249

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