Features include common findings: Clumsiness, Steppage gait, Mildly elevated creatine kinase, and Joint contracture of the hand and others; and sometimes findings: Split hand and Progressive proximal muscle weakness. 20 total HPO annotations.

HNRNPA1 encodes heterogeneous nuclear ribonucleoprotein A1 (372 aa). Involved in the packaging of pre-mRNA into hnRNP particles, transport of poly(A) mRNA from the nucleus to the cytoplasm and modulation of splice site selection. Highest expression in Ovary (1,093 TPM) and Cells EBV-transformed lymphocytes (728.9 TPM).

Finnish upper limb-onset distal myopathy is associated with mutations in the HNRNPA1 gene on chromosome 12.

The HNRNPA1 protein participates in FGFR2c-specific alternative splicing produces FGFR2c transcript and FGFR2 alternative splicing pathways.

HNRNPA1 is classified as a druggable target (Druggable Genome category) with score 3.0.

Genetic testing for HNRNPA1 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for Finnish upper limb-onset distal myopathy has been reported in the published literature.

Phenotype severity distribution: 13 common features.

Estimated prevalence: <1 in 1,000,000 (VERY_RARE).

No clinical trials have been registered for Finnish upper limb-onset distal myopathy.

53 publications have been identified in PubMed for Finnish upper limb-onset distal myopathy. Research spans Case Report / Case Series (30%), Epidemiology / Natural History (30%), and Clinical Trial Publication (11%).