Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 14

Preferred Label : Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 14;

Symbol : MDDGC14;

CISMeF acronym : LGMD2T; MDDGC14; LGMDR19;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Muscular dystrophy-dystroglycanopathy, limb-girdle, gmppb-related; LGMD2T; Muscular dystrophy, limb-girdle, type 2t; LGMDR19; Muscular dystrophy, limb-girdle, autosomal recessive 19;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the GDP-mannose pyrophosphorylase B gene (GMPPB, 615320.0001);

Laboratory abnormalities : Increased serum creatine kinase;

Prefixed ID : #615352;

Details

Origin ID

615352;

UMLS CUI

C4518000;

Automatic exact mappings (from CISMeF team)
- GMPPB-related limb-girdle muscular dystrophy R19 [ORDO Disease]
- autosomal recessive limb-girdle muscular dystrophy type 2T [DO Concept]
DO Cross reference
- autosomal recessive limb-girdle muscular dystrophy type 2T [DO Concept]
Genes related to phenotype
- Gdp-mannose pyrophosphorylase b [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Cardiomyopathy [HPO term]
- Cataract [HPO term]
- Elevated circulating creatine kinase concentration [HPO term]
- Exercise intolerance [HPO term]
- Generalized hypotonia [HPO term]
- Hypoglycosylation of alpha-dystroglycan [HPO term]
- Hypotonia [HPO term]
- Intellectual disability, mild [HPO term]
- Microcephaly [HPO term]
- Motor delay [HPO term]
- Muscle weakness [HPO term]
- Muscular dystrophy [HPO term]
- Nystagmus [HPO term]
- Proximal muscle weakness [HPO term]
- Respiratory insufficiency [HPO term]
- Seizure [HPO term]
- Variable expressivity [HPO term]
ORDO concept(s)
- GMPPB-related limb-girdle muscular dystrophy R19 [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Autosomal recessive limb girdle muscular dystrophy type 2T (disorder) [SNOMED CT concept]

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