Muscular dystrophy, congenital, lmna-related

Preferred Label : Muscular dystrophy, congenital, lmna-related;

CISMeF acronym : MDCL;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : MDCL;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the lamin A/C gene (LMNA, 150330.0047);

Laboratory abnormalities : Increased serum creatine kinase;

Prefixed ID : #613205;

Détails

Origin ID

613205;

UMLS CUI

C2750785;

Currated CISMeF NLP mapping
- Congenital muscular dystrophy due to LMNA mutation [ORDO Disease]
- Congenital muscular dystrophy due to lamin A/C mutation (disorder) [SNOMED CT concept]
- LMNA related congenital muscular dystrophy [Disease (Nov.)]
- Muscular Dystrophy Congenital, LMNA-Related [NCIt concept]
- congenital muscular dystrophy due to LMNA mutation [DO Concept]
- muscular dystrophy, congenital, Lmna-Related [MeSH concept]
- muscular dystrophy, congenital, Lmna-Related [MeSH Supplementary Concept]
DO Cross reference
- congenital muscular dystrophy due to LMNA mutation [DO Concept]
Genes related to phenotype
- Lamin a/C [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Congenital muscular dystrophy [HPO term]
- Decreased fetal movement [HPO term]
- Elevated circulating creatine kinase concentration [HPO term]
- Failure to thrive [HPO term]
- Flexion contracture [HPO term]
- Generalized amyotrophy [HPO term]
- Motor delay [HPO term]
- Neck muscle weakness [HPO term]
- Progressive [HPO term]
- Respiratory insufficiency due to muscle weakness [HPO term]
- Severe muscular hypotonia [HPO term]
- Spinal rigidity [HPO term]
- Talipes [HPO term]
- Variable expressivity [HPO term]
ORDO concept(s)
- Congenital muscular dystrophy due to LMNA mutation [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Congenital muscular dystrophy due to LMNA mutation [ORDO Disease]
- Congenital muscular dystrophy due to lamin A/C mutation (disorder) [SNOMED CT concept]
- LMNA related congenital muscular dystrophy [Disease (Nov.)]
- Muscular Dystrophy Congenital, LMNA-Related [NCIt concept]
- congenital muscular dystrophy due to LMNA mutation [DO Concept]
- muscular dystrophy, congenital, Lmna-Related [MeSH Supplementary Concept]
- muscular dystrophy, congenital, Lmna-Related [MeSH concept]

Position du mot-clé dans l'(les) arborescence(s) :

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