inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1
Findings
No curated finding names inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
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.
Definition from the Mondo Disease Ontology (MONDO:0008178), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Middle age onset · Late young adult onset
HPO, annotations 2026-09-02
Features
17 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Back painHPOHP:0003418
- 4 of 4 reported patients
- Brain atrophyHPOHP:0012444
- 1 of 1 reported patient
- Generalized amyotrophyHPOHP:0003700
- 1 of 1 reported patient
- Pelvic girdle amyotrophyHPOHP:0008946
- 4 of 4 reported patients
- Pelvic girdle muscle atrophyHPOHP:0008988
- 4 of 4 reported patients
- Pelvic girdle muscle weaknessHPOHP:0003749
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- VCPHGNC:12666
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2023
Where it sits
Other names
2 names
Resolves to: inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1
- Also called
- inclusion body myopathy with early-onset paget disease and frontotemporal dementia 1inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia type 1