amyotrophic lateral sclerosis type 12
Findings
No curated finding names amyotrophic lateral sclerosis type 12 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 OPTN gene.
Definition from the Mondo Disease Ontology (MONDO:0013264), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance · Autosomal recessive inheritance
- Onset and course
- Late onset · Middle age onset · Progressive · Young adult onset
HPO, annotations 2026-09-02
Features
10 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
- 8 of 8 reported patients
- EMG: positive sharp wavesHPOHP:0030007
- 1 of 1 reported patient
- Muscle weaknessHPOHP:0001324
- 8 of 8 reported patients
- DysarthriaHPOHP:0001260
- 5 of 8 reported patients
- DysphagiaHPOHP:0002015
- 4 of 8 reported patients
- Tongue fasciculationsHPOHP:0001308
- 4 of 8 reported patients
- Respiratory failureHPOHP:0002878
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.
- OPTNHGNC:17142
- Definitive · ClinGen · Semidominant · 2022
- Strong · Ambry Genetics · Semidominant · 2018
- Strong · Genomics England PanelApp · Autosomal recessive · 2021
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2022
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2022
- Strong · Laboratory for Molecular Medicine · Autosomal recessive · 2020
Where it sits
Other names
5 names
Resolves to: amyotrophic lateral sclerosis type 12
- Also called
- ALS12amyotrophic lateral sclerosis 12amyotrophic lateral sclerosis 12 with or without frontotemporal dementiaamyotrophic lateral sclerosis caused by mutation in OPTNOPTN amyotrophic lateral sclerosis