Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 1

Preferred Label : Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 1;

Symbol : MDDGC1;

CISMeF acronym : LGMD2K; MDDGC1; LGMDR11;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Muscular dystrophy, limb-girdle, type 2k; LGMD2K; Muscular dystrophy, limb-girdle, autosomal recessive 11; LGMDR11;

Description : Limb-girdle muscular dystrophies resulting from defective glycosylation of alpha-dystroglycan (DAG1; 128230) 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;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the protein O-mannosyltransferase-1 gene (POMT1, 607423.0005);

Laboratory abnormalities : Increased serum creatine kinase;

Prefixed ID : #609308;

Details

Origin ID

609308;

UMLS CUI

C1836373;

Automatic exact mappings (from CISMeF team)
- Walker-Warburg syndrome [MeSH Descriptor]
- protein O-mannosyltransferase 1 [ORDO Gene]
Currated CISMeF NLP mapping
- Autosomal recessive limb girdle muscular dystrophy type 2K (disorder) [SNOMED CT concept]
- Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle) Type C, 1 [NCIt concept]
- POMT1-related limb-girdle muscular dystrophy R11 [ORDO Disease]
- autosomal recessive limb-girdle muscular dystrophy type 2K [DO Concept]
- muscular dystrophy, Limb-Girdle, type 2K [MeSH concept]
DO Cross reference
- autosomal recessive limb-girdle muscular dystrophy type 2K [DO Concept]
Genes related to phenotype
- Protein o-mannosyltransferase 1 [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Cardiomyopathy [HPO term]
- Difficulty climbing stairs [HPO term]
- Difficulty walking [HPO term]
- Difficulty walking, running [HPO term]
- Easy fatigability [HPO term]
- Elevated circulating creatine kinase concentration [HPO term]
- Flexion contracture [HPO term]
- Infantile onset [HPO term]
- Intellectual disability [HPO term]
- Limb-girdle muscle weakness [HPO term]
- Lumbar hyperlordosis [HPO term]
- Microcephaly [HPO term]
- Motor delay [HPO term]
- Muscle biopsy shows dystrophic changes [HPO term]
- Muscular dystrophy [HPO term]
- Slowly progressive [HPO term]
- Spinal rigidity [HPO term]
- Variable expressivity [HPO term]
ORDO concept(s)
- POMT1-related limb-girdle muscular dystrophy R11 [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Autosomal recessive limb girdle muscular dystrophy type 2K (disorder) [SNOMED CT concept]
- Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle) Type C, 1 [NCIt concept]
- POMT1-related limb-girdle muscular dystrophy R11 [ORDO Disease]
- limb girdle muscular dystrophy type 2k [Disease (Nov.)]
- muscular dystrophy, Limb-Girdle, type 2K [MeSH concept]

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