amyotrophic lateral sclerosis type 11
Findings
No curated finding names amyotrophic lateral sclerosis type 11 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 FIG4 gene.
Definition from the Mondo Disease Ontology (MONDO:0012945), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Adult onset
HPO, annotations 2026-09-02
Features
6 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
- 9 of 9 reported patients
- Bulbar signsHPOHP:0002483
- 6 of 9 reported patients
- Decreased nerve conduction velocityHPOHP:0000762
- 0 of 9 reported patients
- Somatic sensory dysfunctionHPOHP:0003474
- 0 of 9 reported patients
- Skeletal muscle atrophyHPOHP:0003202
- Upper motor neuron dysfunctionHPOHP:0002493
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.
- FIG4HGNC:16873
- Strong · Genomics England PanelApp · Autosomal dominant · 2021
- Moderate · PanelApp Australia · Autosomal recessive · 2025
- Limited · ClinGen · Autosomal dominant · 2022
- Limited · Labcorp Genetics (formerly Invitae) · Unknown · 2017
Where it sits
Other names
4 names
Resolves to: amyotrophic lateral sclerosis type 11
- Also called
- ALS11amyotrophic lateral sclerosis 11amyotrophic lateral sclerosis caused by mutation in FIG4FIG4 amyotrophic lateral sclerosis