Muscular dystrophy, limb-girdle, autosomal dominant 3

Preferred Label : Muscular dystrophy, limb-girdle, autosomal dominant 3;

Symbol : LGMDD3;

CISMeF acronym : LGMD1G; LGMDD3;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : LGMD1G; Muscular dystrophy, limb-girdle, type 1g;

Description : For a phenotypic description and a discussion of genetic heterogeneity of autosomal dominant limb-girdle muscular dystrophy (LGMD), see LGMD1A (159000).;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the heterogeneous nuclear ribonucleoprotein D-like protein gene (HNRNPDL, 607137.0001);

Laboratory abnormalities : Increased serum creatine kinase;

Prefixed ID : #609115;

Details

Origin ID

609115;

UMLS CUI

C1836765;

Currated CISMeF NLP mapping
- Autosomal dominant limb girdle muscular dystrophy type 1G (disorder) [SNOMED CT concept]
- HNRNPDL-related limb-girdle muscular dystrophy D3 [ORDO Disease]
- Limb-Girdle muscular dystrophy, type 1G [MeSH concept]
- Limb-Girdle muscular dystrophy, type 1G [MeSH Supplementary Concept]
- autosomal dominant limb-girdle muscular dystrophy type 3 [DO Concept]
- limb girdle muscular dystrophy type 1g [Disease (Nov.)]
DO Cross reference
- autosomal dominant limb-girdle muscular dystrophy type 3 [DO Concept]
Genes related to phenotype
- Heterogeneous nuclear ribonucleoprotein D-like protein [OMIM gene]
HPO term(s)
- Adult onset [HPO term]
- Autosomal dominant inheritance [HPO term]
- Cataract [HPO term]
- Decreased movement range in interphalangeal joints [HPO term]
- Elevated circulating creatine kinase concentration [HPO term]
- Flexion limitation of toes [HPO term]
- Hip girdle muscle weakness (usually presenting symptom) [HPO term]
- Hyporeflexia [HPO term]
- Incomplete penetrance [HPO term]
- Limb-girdle muscular dystrophy [HPO term]
- Myopathy [HPO term]
- Pelvic girdle muscle weakness [HPO term]
- Proximal lower limb amyotrophy [HPO term]
- Proximal upper limb amyotrophy [HPO term]
- Rimmed vacuoles [HPO term]
- Shoulder girdle muscle weakness [HPO term]
- Slowly progressive [HPO term]
ORDO concept(s)
- HNRNPDL-related limb-girdle muscular dystrophy D3 [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Autosomal dominant limb girdle muscular dystrophy type 1G (disorder) [SNOMED CT concept]
- HNRNPDL-related limb-girdle muscular dystrophy D3 [ORDO Disease]
- Limb-Girdle muscular dystrophy, type 1G [MeSH Supplementary Concept]
- Limb-Girdle muscular dystrophy, type 1G [MeSH concept]

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