Myopathy, myofibrillar, 4

Preferred Label : Myopathy, myofibrillar, 4;

Symbol : MFM4;

CISMeF acronym : MFM4;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Markesbery-griggs distal myopathy;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the lim domain-binding 3 gene (LDB3, 605906.0001);

Laboratory abnormalities : Increased serum creatine kinase; Serum creatine kinase may be normal;

Prefixed ID : #609452;

Détails

Origin ID

609452;

UMLS CUI

C4721886;

Automatic exact mappings (from CISMeF team)
- Late-onset distal myopathy, Markesbery-Griggs type [ORDO Disease]
- myopathy, myofibrillar, Zasp-Related [MeSH concept]
- myopathy, myofibrillar, Zasp-Related [MeSH Supplementary Concept]
Currated CISMeF NLP mapping
- myofibrillar myopathy 4 [DO Concept]
DO Cross reference
- myofibrillar myopathy 4 [DO Concept]
Genes related to phenotype
- Lim domain-binding 3 [OMIM gene]
HPO term(s)
- Autophagic vacuoles [HPO term]
- Autosomal dominant inheritance [HPO term]
- Cardiomyopathy [HPO term]
- EMG shows myopathic changes [HPO term]
- EMG: myopathic abnormalities [HPO term]
- EMG: neuropathic changes [HPO term]
- Elevated circulating creatine kinase concentration [HPO term]
- Hyporeflexia of lower limbs [HPO term]
- Late onset [HPO term]
- Muscle fiber splitting [HPO term]
- Myofibrillar myopathy [HPO term]
- Polyneuropathy [HPO term]
- Progressive distal muscle weakness [HPO term]
- Progressive muscle weakness [HPO term]
- Progressive proximal muscle weakness [HPO term]
ORDO concept(s)
- Late-onset distal myopathy, Markesbery-Griggs type [ORDO Disease]
See also inter- (CISMeF)
- Late-onset distal myopathy Markesbery Griggs type (disorder) [SNOMED CT concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Late-onset distal myopathy, Markesbery-Griggs type [ORDO Disease]
- myofibrillar myopathy 4 [DO Concept]
- myopathy, myofibrillar, Zasp-Related [MeSH Supplementary Concept]
- myopathy, myofibrillar, Zasp-Related [MeSH concept]

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

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