Emery-dreifuss muscular dystrophy 3, autosomal recessive

Preferred Label : Emery-dreifuss muscular dystrophy 3, autosomal recessive;

Symbol : EDMD3;

CISMeF acronym : EDMD3;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the lamin A/C gene (LMNA, 150330.0010);

Laboratory abnormalities : Increased serum creatine kinase; Increased triglycerides (1 family); Increased LDL cholesterol (1 family);

Prefixed ID : #616516;

Details

Origin ID

616516;

UMLS CUI

C2750035;

CISMeF manual mappings
- Emery-Dreifuss muscular dystrophy 3, autosomal recessive [MeSH concept]
Currated CISMeF NLP mapping
- autosomal recessive Emery-Dreifuss muscular dystrophy 3 [DO Concept]
DO Cross reference
- autosomal recessive Emery-Dreifuss muscular dystrophy 3 [DO Concept]
Genes related to phenotype
- Lamin a/C [OMIM gene]
HPO term(s)
- Arrhythmia [HPO term]
- Autosomal recessive inheritance [HPO term]
- Elbow flexion contracture [HPO term]
- Elevated circulating creatine kinase concentration [HPO term]
- Gait disturbance [HPO term]
- Hypertriglyceridemia [HPO term]
- Increased LDL cholesterol concentration [HPO term]
- Muscle weakness [HPO term]
- Muscular dystrophy [HPO term]
- Progressive [HPO term]
- Scoliosis [HPO term]
ORDO concept(s)
- Autosomal recessive Emery-Dreifuss muscular dystrophy [ORDO Disease]
- Emery-Dreifuss muscular dystrophy [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Emery-Dreifuss muscular dystrophy 3, autosomal recessive [MeSH concept]
Validated automatic mappings to NTBT
- Autosomal recessive Emery-Dreifuss muscular dystrophy [ORDO Disease]
- Emery-Dreifuss muscular dystrophy [ORDO Disease]
- Emery-Dreifuss muscular dystrophy, atypical, autosomal recessive [MeSH Supplementary Concept]
- autosomal recessive Emery-Dreifuss muscular dystrophy [MeSH concept]

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