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amyotrophic lateral sclerosis type 20 (ALS20) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

amyotrophic lateral sclerosis type 20

MONDO:0014181

Also known as:ALS20HNRNPA1 amyotrophic lateral sclerosisamyotrophic lateral sclerosis 20

Overview

Any amyotrophic lateral sclerosis in which the cause of the disease is a mutation in the HNRNPA1 gene.

GeneticsAutosomal dominant · HNRNPA1 (chr 12)

OnsetLATE

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

Features include: Elevated circulating alkaline phosphatase concentration, Progressive muscle deterioration (muscular dystrophy), Amyotrophic lateral sclerosis, and Rimmed vacuoles and 1 more.

Organ System	Phenotype Count	Example Features
Muscles	2	Progressive muscle deterioration (muscular dystrophy), Muscle fiber inclusion bodies

Genetic Landscape

Assembled from HGNC gene records, ClinGen gene-disease validity evidence, and ClinVar pathogenic variant data. Validity classifications reflect the strength of published evidence linking each gene to this disease.

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).

Amyotrophic lateral sclerosis type 20 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.

Diagnosis

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

Biomarker and diagnostic research for amyotrophic lateral sclerosis type 20 has been reported in the published literature.

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

No clinical trials have been registered for amyotrophic lateral sclerosis type 20.

155 publications have been identified in PubMed for amyotrophic lateral sclerosis type 20. Research spans Basic Science / Preclinical (37%), Review / Meta-Analysis (23%), and Diagnostic / Biomarker (14%).

Research Type	Count	% of Total
Laboratory research	57	37%

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 7:50 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:615426

GARD

Genetic and Rare Diseases Info Center

GARD:15964

Questions for Your Care Team

→Should I pursue genetic testing for HNRNPA1, and what would the results mean for my family?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

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amyotrophic lateral sclerosis type 20

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Research Landscape

Medical References

External Resources

OMIM

GARD

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications

amyotrophic lateral sclerosis type 20

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Research Landscape

Medical References

External Resources

OMIM

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications