Inclusion Body Myopathy with Early-Onset Paget Disease with or without Frontotemporal Dementia 1

Preferred Label : Inclusion Body Myopathy with Early-Onset Paget Disease with or without Frontotemporal Dementia 1;

NCIt synonyms : IBMPFD1;

NCIt definition : A rare autosomal dominant inherited disorder caused by mutations in the VCP gene. It can affect the muscles, bones, and brain. Patients may develop myopathy that initially involves the muscles of the hips and shoulders and as the disorder progresses it may affect the cardiac and respiratory muscles, leading to life-threatening cardiac and pulmonary failure. Approximately half of the adults develop Paget disease of bone, and approximately one-third develop frontotemporal dementia.;

Details

Origin ID

C122663;

UMLS CUI

C4551951;

Currated CISMeF NLP mapping
- Inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 1 [OMIM Phenotype]
- inclusion body myopathy with early-onset Paget disease of bone with or without frontotemporal dementia 1 [DO Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 1 [OMIM Phenotype]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
disease_has_finding
- Rare Lesion [NCIt concept]
disease_mapped_to_gene
- VCP Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients