Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 7

Preferred Label : Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 7;

Symbol : MDDGC7;

CISMeF acronym : LGMD2U; MDDGC7; LGMDR20;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : LGMD2U; Muscular dystrophy, limb-girdle, type 2u; LGMDR20; Muscular dystrophy, limb-girdle, autosomal recessive 20;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the isoprenoid synthase domain-containing protein gene (ISPD, 614641.0014);

Laboratory abnormalities : Increased serum creatine kinase; Myoglobinuria after exertion (in some patients);

Prefixed ID : #616052;

Details

Origin ID

616052;

UMLS CUI

C5190987;

Automatic exact mappings (from CISMeF team)
- Alpha-dystroglycan-related limb-girdle muscular dystrophy R16 [ORDO Disease]
- ISPD-related limb-girdle muscular dystrophy R20 [ORDO Disease]
- Limb-girdle muscular dystrophy-dystroglycanopathy C7 [ICD-11 More detail]
- autosomal recessive limb-girdle muscular dystrophy type 2U [DO Concept]
DO Cross reference
- autosomal recessive limb-girdle muscular dystrophy type 2U [DO Concept]
Genes related to phenotype
- Cdp-L-ribitol pyrophosphorylase a [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Calf muscle hypertrophy [HPO term]
- Elevated circulating creatine kinase concentration [HPO term]
- Hypoglycosylation of alpha-dystroglycan [HPO term]
- Limb-girdle muscular dystrophy [HPO term]
- Macroglossia [HPO term]
- Muscle weakness [HPO term]
- Reduced forced vital capacity [HPO term]
- Scapular winging [HPO term]
- Slowly progressive [HPO term]
ORDO concept(s)
- ISPD-related limb-girdle muscular dystrophy R20 [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Autosomal recessive limb girdle muscular dystrophy type 2U (disorder) [SNOMED CT concept]

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