Muscular Dystrophy-Dystroglycanopathy , Type C, 1

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OMIM 53 609308 Disease Ontology 12 DOID:0110297 ICD10 32 G71.0 Orphanet 55 ORPHA86812 UMLS via Orphanet 70 C1836373

ICD10 via Orphanet 33 G71.0 MedGen 39 C1836373 MeSH 41 D049288 SNOMED-CT via HPO 65 258211005 271611007 228156007 247578003 91138005 203598005 385522000 55033002 57048009 7890003 88565003 57809008 85898001 228158008 248268002 282195009 193225000 73297009 more UMLS 69 C1836373

OMIM : ⁵³ Limb-girdle muscular dystrophies resulting from defective glycosylation of alpha-dystroglycan (DAG1; 128239) represent the mildest end of the phenotypic spectrum of muscular dystrophies collectively known as dystroglycanopathies. The limb-girdle phenotype is characterized by onset of muscular weakness apparent after ambulation is achieved; mental retardation and mild brain anomalies are variable (Balci et al., 2005; review by Godfrey et al., 2007). The most severe end of the phenotypic spectrum of dystroglycanopathies is represented by congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies (type A; see MDDGA1, 236670), previously designated Walker-Warburg syndrome (WWS) or muscle-eye-brain disease (MEB), and the intermediate range of the spectrum is represented by congenital muscular dystrophy-dystroglycanopathy with or without mental retardation (type B; see MDDGB1, 613155). (609308)

MalaCards based summary : Muscular Dystrophy-Dystroglycanopathy , Type C, 1, also known as lgmd2k, is related to muscular dystrophy-dystroglycanopathy , type c, 9 and muscular dystrophy-dystroglycanopathy , type c, 14, and has symptoms including intellectual disability, microcephaly and flexion contracture. An important gene associated with Muscular Dystrophy-Dystroglycanopathy , Type C, 1 is POMT1 (Protein O-Mannosyltransferase 1), and among its related pathways/superpathways are Mannose type O-glycan biosynthesis and Other types of O-glycan biosynthesis. Affiliated tissues include brain and eye.

UniProtKB/Swiss-Prot : ⁷¹ Muscular dystrophy-dystroglycanopathy limb-girdle C1: An autosomal recessive degenerative myopathy associated with mild mental retardation without any obvious structural brain abnormality. An abnormal alpha-dystroglycan pattern in observed in the muscle.

Disease Ontology : ¹² An autosomal recessive limb-girdle muscular dystrophy that has material basis in homozygous or compound heterozygous mutation in the gene encoding protein O-mannosyltransferase (POMT1).

Clinical features from OMIM:

609308

Search Clinical Trials , NIH Clinical Center for Muscular Dystrophy-Dystroglycanopathy , Type C, 1

Search GEO for disease gene expression data for Muscular Dystrophy-Dystroglycanopathy , Type C, 1.