Muscular Dystrophy-Dystroglycanopathy , Type a, 7 (MDDGA7)

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OMIM 56 614643 OMIM Phenotypic Series 56 PS236670 MeSH 43 D058494

MedGen 41 C3553330 CN124931 SNOMED-CT via HPO 68 128306009 14447001 16026008 193225000 193570009 204043002 204108000 204153003 23024003 230745008 23986001 246923005 247053007 253101008 253140003 253149002 258211005 276369006 31216003 314270008 349006 35045004 37280007 42059000 44647001 48777005 4945003 55999004 61142002 69927002 73297009 80093006 90145001 95494009 95499004 95515009 more UMLS 71 C3553330

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 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 MDDGA1 (236670). (614643)

MalaCards based summary : Muscular Dystrophy-Dystroglycanopathy , Type a, 7, also known as mddga7, is related to congenital muscular dystrophy-dystroglycanopathy a7. An important gene associated with Muscular Dystrophy-Dystroglycanopathy , Type a, 7 is CRPPA (CDP-L-Ribitol Pyrophosphorylase A). Affiliated tissues include eye, brain and skeletal muscle, and related phenotypes are cataract and macrocephaly

UniProtKB/Swiss-Prot : ⁷³ Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A7: 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:

614643

Search Clinical Trials , NIH Clinical Center for Muscular Dystrophy-Dystroglycanopathy , Type a, 7

Search GEO for disease gene expression data for Muscular Dystrophy-Dystroglycanopathy , Type a, 7.