Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 9

Preferred Label : Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 9;

Symbol : MDDGC9;

CISMeF acronym : LGMD2P; MDDGC9; LGMDR16;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Muscular dystrophy, limb-girdle, type 2p; Muscular dystrophy-dystroglycanopathy, limb-girdle, dag1-related; LGMD2P; LGMDR16; Muscular dystrophy, limb-girdle, autosomal recessive 16;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the dystrophin-associated glycoprotein 1 gene (DAG1, 128239.0001);

Laboratory abnormalities : Increased serum creatine kinase;

Prefixed ID : #613818;

Détails

Origin ID

613818;

UMLS CUI

C4511963;

Automatic exact mappings (from CISMeF team)
- Alpha-dystroglycan-related limb-girdle muscular dystrophy R16 [ORDO Disease]
- autosomal recessive limb-girdle muscular dystrophy type 2P [DO Concept]
Currated CISMeF NLP mapping
- Autosomal recessive limb girdle muscular dystrophy type 2P (disorder) [SNOMED CT concept]
DO Cross reference
- autosomal recessive limb-girdle muscular dystrophy type 2P [DO Concept]
Genes related to phenotype
- Dystroglycan 1 [OMIM gene]
HPO term(s)
- Ankle flexion contracture [HPO term]
- Autosomal recessive inheritance [HPO term]
- Delayed speech and language development [HPO term]
- Difficulty walking [HPO term]
- Elevated circulating creatine kinase concentration [HPO term]
- Global developmental delay [HPO term]
- Gowers sign [HPO term]
- Hypoglycosylation of alpha-dystroglycan [HPO term]
- Intellectual disability [HPO term]
- Limb-girdle muscle weakness [HPO term]
- Lumbar hyperlordosis [HPO term]
- Muscular dystrophy [HPO term]
ORDO concept(s)
- Alpha-dystroglycan-related limb-girdle muscular dystrophy R16 [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Autosomal recessive limb girdle muscular dystrophy type 2P (disorder) [SNOMED CT concept]

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