amyotrophic lateral sclerosis type 21
Findings
No curated finding names amyotrophic lateral sclerosis type 21 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 MATR3 gene.
Definition from the Mondo Disease Ontology (MONDO:0011632), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Middle age onset · 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.
- Distal muscle weaknessHPOHP:0002460
- 12 of 12 reported patients
- Increased variability in muscle fiber diameterHPOHP:0003557
- 1 of 1 reported patient
- Distal lower limb muscle weaknessHPOHP:0009053
- 23 of 24 reported patients
- Hand muscle weaknessHPOHP:0030237
- 20 of 24 reported patients
- Rimmed vacuolesHPOHP:0003805
- 5 of 6 reported patients
- DysphagiaHPOHP:0002015
- 13 of 19 reported patients
- Elevated circulating creatine kinase activityHPO
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.
- MATR3HGNC:6912
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2021
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Moderate · Ambry Genetics · Autosomal dominant · 2018
- Moderate · Genomics England PanelApp · Autosomal dominant · 2021
Where it sits
Other names
3 names
Resolves to: amyotrophic lateral sclerosis type 21
- Also called
- ALS21amyotrophic lateral sclerosis caused by mutation in MATR3MATR3 amyotrophic lateral sclerosis