inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 3
Findings
No curated finding names inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 3 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any inclusion body myopathy with Paget disease of bone and frontotemporal dementia in which the cause of the disease is a mutation in the HNRNPA1 gene.
Definition from the Mondo Disease Ontology (MONDO:0014179), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Middle age onset · Young adult onset
HPO, annotations 2026-09-02
Features
14 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.
- Abdominal wall muscle weaknessHPOHP:0009023
- 5 of 5 reported patients
- Elevated circulating creatine kinase activityHPOHP:0003236
- 5 of 5 reported patients
- Foot dorsiflexor weaknessHPOHP:0009027
- 5 of 5 reported patients
- Proximal lower limb muscle weaknessHPOHP:0008994
- 5 of 5 reported patients
- Muscle fiber inclusion bodiesHPOHP:0100299
- 2 of 3 reported patients
- Rimmed vacuolesHPOHP:0003805
- 2 of 3 reported patients
- Elevated circulating alkaline phosphatase concentration
Show the remaining 2
- Limb-girdle muscular dystrophyHPOHP:0006785
- MyopathyHPOHP:0003198
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.
- HNRNPA1HGNC:5031
- Strong · Ambry Genetics · Autosomal dominant · 2025
- Strong · Genomics England PanelApp · Autosomal dominant · 2021
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2022
Where it sits
Other names
4 names
Resolves to: inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 3
- Also called
- HNRNPA1 inclusion body myopathy with Paget disease of bone and frontotemporal dementiainclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia type 3inclusion body myopathy with early-onset paget disease without frontotemporal dementia 3inclusion body myopathy with Paget disease of bone and frontotemporal dementia caused by mutation in HNRNPA1