Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 3

Preferred Label : Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 3;

Symbol : MDDGC3;

CISMeF acronym : LGMD2O; MDDGC3; LGMDR15;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Muscular dystrophy-dystroglycanopathy, limb-girdle, pomgnt1-related; Muscular dystrophy, limb-girdle, type 2o; LGMD2O; LGMDR15; Muscular dystrophy, limb-girdle, autosomal recessive 15;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the protein O-mannose beta-1,2-N-acetylglucosaminyltransferase 1 gene (POMGNT1, 606822.0013);

Laboratory abnormalities : Increased serum creatine kinase;

Prefixed ID : #613157;

Details

Origin ID

613157;

UMLS CUI

C3150417;

Automatic exact mappings (from CISMeF team)
- protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) [ORDO Gene]
Currated CISMeF NLP mapping
- Autosomal recessive limb girdle muscular dystrophy type 2O (disorder) [SNOMED CT concept]
- Limb-girdle muscular dystrophy 2O, POMGNT1 gene mutation [ICD-11 More detail]
- POMGNT1-related limb-girdle muscular dystrophy R15 [ORDO Disease]
- autosomal recessive limb-girdle muscular dystrophy type 2O [DO Concept]
DO Cross reference
- autosomal recessive limb-girdle muscular dystrophy type 2O [DO Concept]
Genes related to phenotype
- Protein o-mannose beta-1,2-n-acetylglucosaminyltransferase [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Difficulty climbing stairs [HPO term]
- Elevated circulating creatine kinase concentration [HPO term]
- Fatigue [HPO term]
- Gowers sign [HPO term]
- Hyperlordosis [HPO term]
- Motor delay [HPO term]
- Muscular dystrophy [HPO term]
- Myopia [HPO term]
- Progressive [HPO term]
- Proximal muscle weakness [HPO term]
- Skeletal muscle hypertrophy [HPO term]
ORDO concept(s)
- POMGNT1-related limb-girdle muscular dystrophy R15 [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Autosomal recessive limb girdle muscular dystrophy type 2O (disorder) [SNOMED CT concept]
- POMGNT1-related limb-girdle muscular dystrophy R15 [ORDO Disease]
- autosomal recessive limb-girdle muscular dystrophy type 2O [DO Concept]

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