Muscular dystrophy, limb-girdle, autosomal dominant 1

Preferred Label : Muscular dystrophy, limb-girdle, autosomal dominant 1;

Symbol : LGMDD1;

CISMeF acronym : LGMD1D; LGMD1E; LGMDD1;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : LGMD1D; Muscular dystrophy, limb-girdle, type 1d; LGMD1E; Muscular dystrophy, limb-girdle, type 1e; Muscular dystrophy, autosomal dominant, with rimmed vacuoles; MDRV;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the DNAJ/HSP40 homolog, subfamily B, member 6 gene (DNAJB6, 611332.0001);

Laboratory abnormalities : Increased serum creatine kinase;

Prefixed ID : #603511;

Details

Origin ID

603511;

UMLS CUI

C4721885;

Automatic exact mappings (from CISMeF team)
- DNAJB6 wt Allele [NCIt concept]
Currated CISMeF NLP mapping
- Autosomal dominant limb girdle muscular dystrophy type 1E (disorder) [SNOMED CT concept]
- Autosomal dominant limb-girdle muscular dystrophy type 1E [ORDO Disease]
- DNAJB6-related limb-girdle muscular dystrophy D1 [ORDO Disease]
- autosomal dominant limb-girdle muscular dystrophy type 1 [DO Concept]
- limb girdle muscular dystrophy type 1d [Disease (Nov.)]
- limb girdle muscular dystrophy type 1e [Disease (Nov.)]
- muscular dystrophy, Limb-Girdle, type 1D [MeSH concept]
- muscular dystrophy, Limb-Girdle, type 1D [MeSH Supplementary Concept]
- muscular dystrophy, Limb-Girdle, type 1E [MeSH concept]
- muscular dystrophy, Limb-Girdle, type 1E [MeSH Supplementary Concept]
DO Cross reference
- autosomal dominant limb-girdle muscular dystrophy type 1 [DO Concept]
Genes related to phenotype
- Dnaj/hsp40 homolog, subfamily b, member 6 [OMIM gene]
HPO term(s)
- Adult onset [HPO term]
- Autosomal dominant inheritance [HPO term]
- Bulbar palsy [HPO term]
- Difficulty climbing stairs [HPO term]
- Dysphagia [HPO term]
- Dyspnea [HPO term]
- Elevated circulating creatine kinase concentration [HPO term]
- Facial palsy [HPO term]
- Flexion contracture [HPO term]
- Gowers sign [HPO term]
- Hip girdle muscle weakness (usually presenting symptom) [HPO term]
- Muscle fiber splitting [HPO term]
- Muscular dystrophy [HPO term]
- Pelvic girdle muscle weakness [HPO term]
- Rimmed vacuoles [HPO term]
- Shoulder girdle muscle weakness [HPO term]
- Slowly progressive [HPO term]
- Waddling gait [HPO term]
ORDO concept(s)
- DNAJB6-related limb-girdle muscular dystrophy D1 [ORDO Disease]
See also inter- (CISMeF)
- Autosomal dominant limb girdle muscular dystrophy type 1D (disorder) [SNOMED CT concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Autosomal dominant limb-girdle muscular dystrophy type 1E [ORDO Disease]
- muscular dystrophy, Limb-Girdle, type 1E [MeSH Supplementary Concept]
- muscular dystrophy, Limb-Girdle, type 1E [MeSH concept]

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