Muscular dystrophy, limb-girdle, autosomal recessive 6

Preferred Label : Muscular dystrophy, limb-girdle, autosomal recessive 6;

Symbol : LGMDR6;

CISMeF acronym : LGMD2F; LGMDR6;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : LGMD2F; Muscular dystrophy, limb-girdle, type 2f;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the delta sarcoglycan gene (SGCD, 601411.0001);

Laboratory abnormalities : Increased serum creatine kinase;

Prefixed ID : #601287;

Détails

Origin ID

601287;

UMLS CUI

C1832525;

Automatic exact mappings (from CISMeF team)
- Autosomal recessive limb girdle muscular dystrophy type 2F (disorder) [SNOMED CT concept]
- Delta-sarcoglycan-related limb-girdle muscular dystrophy R6 [ORDO Disease]
- Limb-girdle muscular dystrophy type 2F [MeSH concept]
- autosomal recessive limb-girdle muscular dystrophy type 2F [DO Concept]
- limb-girdle muscular dystrophy type 2F [MeSH Supplementary Concept]
- sarcoglycan delta [ORDO Gene]
DO Cross reference
- autosomal recessive limb-girdle muscular dystrophy type 2F [DO Concept]
Genes related to phenotype
- Sarcoglycan, delta [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Calf muscle hypertrophy [HPO term]
- Difficulty walking [HPO term]
- Elevated circulating creatine kinase concentration [HPO term]
- Gowers sign [HPO term]
- Muscular dystrophy [HPO term]
- Proximal amyotrophy [HPO term]
- Proximal muscle weakness [HPO term]
- Scapular winging [HPO term]
- Ventricular hypertrophy [HPO term]
ORDO concept(s)
- Delta-sarcoglycan-related limb-girdle muscular dystrophy R6 [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Autosomal recessive limb girdle muscular dystrophy type 2F (disorder) [SNOMED CT concept]
- Delta-sarcoglycan-related limb-girdle muscular dystrophy R6 [ORDO Disease]
- Limb-girdle muscular dystrophy type 2F [MeSH concept]
- limb-girdle muscular dystrophy type 2F [MeSH Supplementary Concept]

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