Muscular Dystrophy-Dystroglycanopathy , Type a, 12 (MDDGA12)

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OMIM 58 615249 MeSH 45 D058494 MedGen 43 C3808964 CN169987

SNOMED-CT via HPO 70 111266001 128306009 128613002 13164000 15805002 16026008 193225000 193570009 203598005 204108000 205294008 224958001 230745008 246545002 246920008 247053007 253149002 258211005 313307000 385522000 5102002 55033002 57048009 60700002 61142002 64217002 73297009 78164000 7890003 84757009 88565003 91175000 92828000 93390002 95695004 more UMLS 74 C3808964

OMIM : ⁵⁸ 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 eye and brain, and related phenotypes are agenesis of corpus callosum and hydrocephalus

UniProtKB/Swiss-Prot : ⁷⁶ 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

Search Clinical Trials , NIH Clinical Center for Muscular Dystrophy-Dystroglycanopathy , Type a, 12

Search GEO for disease gene expression data for Muscular Dystrophy-Dystroglycanopathy , Type a, 12.