inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2
Findings
No curated finding names inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2 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 HNRNPA2B1 gene.
Definition from the Mondo Disease Ontology (MONDO:0014178), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
HPO, annotations 2026-09-02
Features
13 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.
- Centrally nucleated skeletal muscle fibersHPOHP:0003687
- 2 of 2 reported patients
- MyopathyHPOHP:0003198
- 5 of 5 reported patients
- Pagetic bone lesionHPOHP:0034159
- 5 of 5 reported patients
- Rimmed vacuolesHPOHP:0003805
- 2 of 2 reported patients
- Cognitive impairmentHPOHP:0100543
- 2 of 5 reported patients
- Atypical behaviorHPOHP:0000708
- 1 of 5 reported patients
- Elevated circulating alkaline phosphatase concentrationHPO
Show the remaining 1
- Skeletal muscle atrophyHPOHP:0003202
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.
- HNRNPA2B1HGNC:5033
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2022
- Moderate · ClinGen · Autosomal dominant · 2024
- Limited · Ambry Genetics · Autosomal dominant · 2023
Where it sits
Other names
3 names
Resolves to: inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2
- Also called
- HNRNPA2B1 inclusion body myopathy with Paget disease of bone and frontotemporal dementiainclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia type 2inclusion body myopathy with Paget disease of bone and frontotemporal dementia caused by mutation in HNRNPA2B1