amyotrophic lateral sclerosis type 16
Findings
No curated finding names amyotrophic lateral sclerosis type 16 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 SIGMAR1 gene.
Definition from the Mondo Disease Ontology (MONDO:0013715), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Slowly progressive · Childhood 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.
- HyperreflexiaHPOHP:0001347
- 6 of 6 reported patients
- Lower limb muscle weaknessHPOHP:0007340
- 6 of 6 reported patients · Childhood onset
- Lower limb spasticityHPOHP:0002061
- 6 of 6 reported patients · Childhood onset
- Weakness of the intrinsic hand musclesHPOHP:0009005
- 6 of 6 reported patients · Juvenile onset
- Loss of ambulationHPOHP:0002505
- 2 of 6 reported patients · Young adult onset
- Amyotrophic lateral sclerosisHPOHP:0007354
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.
- SIGMAR1HGNC:8157
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2020
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Moderate · Genomics England PanelApp · Autosomal recessive · 2021
Where it sits
Other names
3 names
Resolves to: amyotrophic lateral sclerosis type 16
- Also called
- ALS16amyotrophic lateral sclerosis caused by mutation in SIGMAR1SIGMAR1 amyotrophic lateral sclerosis