Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 2

Preferred Label : Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 2;

Symbol : MDDGC2;

CISMeF acronym : LGMD2N; MDDGC2; LGMDR14;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Muscular dystrophy, limb-girdle, type 2n; Muscular dystrophy-dystroglycanopathy, limb-girdle, pomt2-related; LGMD2N; LGMDR14; Muscular dystrophy, limb-girdle, autosomal recessive 14;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the protein O-mannosyltransferase 2 gene (POMT2, 607439.0010);

Laboratory abnormalities : Increased serum creatine kinase;

Prefixed ID : #613158;

Details

Origin ID

613158;

UMLS CUI

C3150418;

Automatic exact mappings (from CISMeF team)
- Limb-girdle muscular dystrophy 2N, POMT2 gene mutation [ICD-11 More detail]
- protein O-mannosyltransferase 2 [ORDO Gene]
Currated CISMeF NLP mapping
- POMT2-related limb-girdle muscular dystrophy R14 [ORDO Disease]
- autosomal recessive limb-girdle muscular dystrophy type 2N [DO Concept]
DO Cross reference
- autosomal recessive limb-girdle muscular dystrophy type 2N [DO Concept]
Genes related to phenotype
- Protein o-mannosyltransferase 2 [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Elevated circulating creatine kinase concentration [HPO term]
- Infantile onset [HPO term]
- Motor delay [HPO term]
- Muscular dystrophy [HPO term]
- Proximal muscle weakness [HPO term]
- Right bundle branch block [HPO term]
- Skeletal muscle hypertrophy [HPO term]
- Variable expressivity [HPO term]
ORDO concept(s)
- POMT2-related limb-girdle muscular dystrophy R14 [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Autosomal recessive limb girdle muscular dystrophy type 2N (disorder) [SNOMED CT concept]
- POMT2-related limb-girdle muscular dystrophy R14 [ORDO Disease]
- autosomal recessive limb-girdle muscular dystrophy type 2N [DO Concept]

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