amyotrophic lateral sclerosis type 18
Findings
No curated finding names amyotrophic lateral sclerosis type 18 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 PFN1 gene.
Definition from the Mondo Disease Ontology (MONDO:0013891), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
HPO, annotations 2026-09-02
Features
7 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.
- Amyotrophic lateral sclerosisHPOHP:0007354
- DysarthriaHPOHP:0001260
- DysphagiaHPOHP:0002015
- FasciculationsHPOHP:0002380
- Muscle weaknessHPOHP:0001324
- Skeletal muscle atrophyHPOHP:0003202
- SpasticityHPOHP:0001257
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.
- PFN1HGNC:8881
- Definitive · ClinGen · Autosomal dominant · 2021
- Strong · Genomics England PanelApp · Autosomal dominant · 2021
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2023
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Moderate · Ambry Genetics · Autosomal dominant · 2018
Where it sits
Other names
4 names
Resolves to: amyotrophic lateral sclerosis type 18
- Also called
- ALS18amyotrophic lateral sclerosis 18amyotrophic lateral sclerosis caused by mutation in PFN1PFN1 amyotrophic lateral sclerosis