Muscular dystrophy, limb-girdle, autosomal recessive 2

Preferred Label : Muscular dystrophy, limb-girdle, autosomal recessive 2;

Symbol : LGMDR2;

CISMeF acronym : LGMD2B; LGMD3; LGMDR2;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : LGMD3; Muscular dystrophy, limb-girdle, type 3; Muscular dystrophy, limb-girdle, type 2b; LGMD2B;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the dysferlin gene (DYSF, 603009.0003);

Laboratory abnormalities : Increased serum creatine kinase;

Prefixed ID : #253601;

Détails

Origin ID

253601;

UMLS CUI

C1850889;

Automatic exact mappings (from CISMeF team)
- DYSF wt Allele [NCIt concept]
Currated CISMeF NLP mapping
- Autosomal recessive limb girdle muscular dystrophy type 2B (disorder) [SNOMED CT concept]
- Dysferlin-related limb-girdle muscular dystrophy R2 [ORDO Disease]
- Limb-Girdle Muscular Dystrophy Type 2B [NCIt concept]
- Limb-girdle muscular dystrophy, type 2B [MeSH concept]
- autosomal recessive limb-girdle muscular dystrophy type 2B [DO Concept]
- limb girdle muscular dystrophy type 2b [Disease (Nov.)]
- limb-girdle muscular dystrophy, type 2B [MeSH Supplementary Concept]
DO Cross reference
- autosomal recessive limb-girdle muscular dystrophy type 2B [DO Concept]
Genes related to phenotype
- Dysferlin [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Difficulty climbing stairs [HPO term]
- Difficulty running [HPO term]
- EMG shows myopathic changes [HPO term]
- EMG: myopathic abnormalities [HPO term]
- Elevated circulating creatine kinase concentration [HPO term]
- Fatigue [HPO term]
- Increased connective tissue [HPO term]
- Increased variability in muscle fiber diameter [HPO term]
- Muscle biopsy shows dystrophic changes [HPO term]
- Muscle fiber splitting [HPO term]
- Muscular dystrophy [HPO term]
- Proximal muscle weakness [HPO term]
- Slowly progressive [HPO term]
ORDO concept(s)
- Dysferlin-related limb-girdle muscular dystrophy R2 [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Autosomal recessive limb girdle muscular dystrophy type 2B (disorder) [SNOMED CT concept]
- Dysferlin-related limb-girdle muscular dystrophy R2 [ORDO Disease]
- Limb-Girdle Muscular Dystrophy Type 2B [NCIt concept]
- Limb-girdle muscular dystrophy, type 2B [MeSH concept]
- limb-girdle muscular dystrophy, type 2B [MeSH Supplementary Concept]

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