Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 3: genes and variants
Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 3 is linked to 1 analyzed protein (HNRNPA1). 1 DNA variants are known to cause it; 2 more are uncertain, and 0 of those already look disease-causing on computable evidence.
Last updated 2026-09-30. Research information, not medical advice.
Genes linked to Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 3
HNRNPA1: Heterogeneous nuclear ribonucleoprotein A1
It regulates pre-mRNA splicing, RNA transport, translation, and stress-granule dynamics through RNA binding and reversible self-assembly. Rare pathogenic variants can cause multisystem proteinopathy, amyotrophic lateral sclerosis, or related neuromuscular degeneration through altered RNA and protein homeostasis.
1 disease-causing and 2 uncertain variants in HNRNPA1 are linked to Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 3.
Known disease-causing variants in Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 3
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| HNRNPA1 P340A | 340 | Nuclear targeting sequence (M9) | Disease-causing (★) |
Same protein, different disease
- Chronic progressive multiple sclerosis is also caused by HNRNPA1 variants; they fall mostly in different places as the Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 3 variants (14 disease-causing).
Diseases related to Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 3
- Amyotrophic lateral sclerosis, also linked to HNRNPA1
- Inclusion body myopathy with Paget disease of bone and frontotemporal dementia, also linked to HNRNPA1
- Chronic progressive multiple sclerosis, also linked to HNRNPA1
- Relapsing remitting multiple sclerosis, also linked to HNRNPA1
Frequently asked questions
Which genes are linked to Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 3?
In CATVariant, Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 3 is linked to 1 analyzed protein: HNRNPA1 (Heterogeneous nuclear ribonucleoprotein A1).
How many genetic variants are linked to Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 3?
6 variants: 1 are classified as disease-causing (pathogenic or likely pathogenic) in ClinVar and 2 are of uncertain significance or have conflicting reports.
Which uncertain variants in Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 3 look disease-causing?
None of the uncertain variants currently reaches the likely-pathogenic range on computable evidence alone.
About this data
Variant–disease links come from ClinVar, Open Targets and UniProt, pooled from the latest public CATVariant analysis of each human protein. Evidence scores use the ACMG/AMP Bayesian points scale with computable criteria only (position among known disease variants, rarity in gnomAD, calibrated predictors, deep mutational scanning); there is no family or patient data, so they prioritise variants for expert review and never classify them.
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