Muscular dystrophy, limb-girdle, autosomal recessive 17

Preferred Label : Muscular dystrophy, limb-girdle, autosomal recessive 17;

Symbol : LGMDR17;

CISMeF acronym : LGMD2Q; LGMDR17;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Muscular dystrophy, limb-girdle, type 2q; LGMD2Q;

Description : Limb-girdle muscular dystrophy type 2Q is characterized by early childhood onset of proximal muscle weakness and atrophy without skin involvement. One family has shown rapid progression of the disorder in adolescence (summary by Gundesli et al., 2010). For a discussion of genetic heterogeneity of autosomal recessive limb-girdle muscular dystrophy (LGMD), see LGMD2A (253600).;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the plectin 1 gene (PLEC1, 601282.0010);

Laboratory abnormalities : Increased serum creatine kinase;

Prefixed ID : #613723;

Details

Origin ID

613723;

UMLS CUI

C3150989;

Automatic exact mappings (from CISMeF team)
- Limb-girdle muscular dystrophy 2Q, plectin deficiency [ICD-11 More detail]
- PLEC wt Allele [NCIt concept]
Currated CISMeF NLP mapping
- Autosomal recessive limb girdle muscular dystrophy type 2Q (disorder) [SNOMED CT concept]
- Plectin-related limb-girdle muscular dystrophy R17 [ORDO Disease]
- autosomal recessive limb-girdle muscular dystrophy type 2Q [DO Concept]
- limb girdle muscular dystrophy type 2q [Disease (Nov.)]
DO Cross reference
- autosomal recessive limb-girdle muscular dystrophy type 2Q [DO Concept]
Genes related to phenotype
- Plectin [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Difficulty climbing stairs [HPO term]
- Elevated circulating creatine kinase concentration [HPO term]
- Flexion contracture [HPO term]
- Generalized muscle weakness [HPO term]
- Gowers sign [HPO term]
- Lumbar hyperlordosis [HPO term]
- Motor delay [HPO term]
- Muscular dystrophy [HPO term]
- Proximal muscle weakness [HPO term]
- Rapidly progressive [HPO term]
- Skeletal muscle atrophy [HPO term]
ORDO concept(s)
- Plectin-related limb-girdle muscular dystrophy R17 [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Autosomal recessive limb girdle muscular dystrophy type 2Q (disorder) [SNOMED CT concept]
- Plectin-related limb-girdle muscular dystrophy R17 [ORDO Disease]
- autosomal recessive limb-girdle muscular dystrophy type 2Q [DO Concept]
- limb girdle muscular dystrophy type 2q [Disease (Nov.)]

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