Muscular dystrophy, limb-girdle, autosomal dominant 2

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

Symbol : LGMDD2;

CISMeF acronym : LGMD1F; LGMDD2;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : LGMD1F; Muscular dystrophy, limb-girdle, type 1f;

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

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the transportin 3 gene (TNPO3, 610032.0001);

Laboratory abnormalities : Serum creatine kinase may be normal or elevated;

Prefixed ID : #608423;

Détails

Origin ID

608423;

UMLS CUI

C1842062;

Currated CISMeF NLP mapping
- Autosomal dominant limb girdle muscular dystrophy type 1F (disorder) [SNOMED CT concept]
- TNP03-related limb-girdle muscular dystrophy D2 [ORDO Disease]
- autosomal dominant limb-girdle muscular dystrophy type 2 [DO Concept]
- limb girdle muscular dystrophy type 1f [Disease (Nov.)]
- muscular dystrophy, Limb-Girdle, type 1F [MeSH concept]
- muscular dystrophy, Limb-Girdle, type 1F [MeSH Supplementary Concept]
DO Cross reference
- autosomal dominant limb-girdle muscular dystrophy type 2 [DO Concept]
Genes related to phenotype
- Transportin 3 [OMIM gene]
HPO term(s)
- Abnormality of metabolism/homeostasis [HPO term]
- Adolescent onset [HPO term]
- Adult onset [HPO term]
- Autophagic vacuoles [HPO term]
- Autosomal dominant inheritance [HPO term]
- Centrally nucleated skeletal muscle fibers [HPO term]
- Delayed ability to walk [HPO term]
- Difficulty running [HPO term]
- EMG shows myopathic changes [HPO term]
- EMG: myopathic abnormalities [HPO term]
- Flexion contracture [HPO term]
- Increased connective tissue [HPO term]
- Juvenile onset [HPO term]
- Late-onset distal muscle weakness [HPO term]
- Muscular dystrophy [HPO term]
- Pallor [HPO term]
- Pelvic girdle muscle weakness [HPO term]
- Respiratory insufficiency due to muscle weakness [HPO term]
- Rimmed vacuoles [HPO term]
- Scapular winging [HPO term]
- Shoulder girdle muscle weakness [HPO term]
- Spinal rigidity [HPO term]
ORDO concept(s)
- TNP03-related limb-girdle muscular dystrophy D2 [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Autosomal dominant limb girdle muscular dystrophy type 1F (disorder) [SNOMED CT concept]
- TNP03-related limb-girdle muscular dystrophy D2 [ORDO Disease]
- muscular dystrophy, Limb-Girdle, type 1F [MeSH Supplementary Concept]
- muscular dystrophy, Limb-Girdle, type 1F [MeSH concept]

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