amyotrophic lateral sclerosis type 20
Findings
No curated finding names amyotrophic lateral sclerosis type 20 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any amyotrophic lateral sclerosis in which the cause of the disease is a mutation in the HNRNPA1 gene.
Definition from the Mondo Disease Ontology (MONDO:0014181), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
HPO, annotations 2026-09-02
Features
4 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.
- Elevated circulating alkaline phosphatase concentrationHPOHP:0003155
- Muscle fiber inclusion bodiesHPOHP:0100299
- Muscular dystrophyHPOHP:0003560
- Late onset
- Rimmed vacuolesHPOHP:0003805
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 · Genomics England PanelApp · Autosomal dominant · 2021
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2021
- Strong · PanelApp Australia · Autosomal dominant · 2025
Where it sits
Other names
4 names
Resolves to: amyotrophic lateral sclerosis type 20
- Also called
- ALS20amyotrophic lateral sclerosis 20amyotrophic lateral sclerosis caused by mutation in HNRNPA1HNRNPA1 amyotrophic lateral sclerosis