amyotrophic lateral sclerosis, susceptibility to, 24
MONDO:0054750Mondo
Findings
No curated finding names amyotrophic lateral sclerosis, susceptibility to, 24 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Late onset · Middle age onset
HPO, annotations 2026-09-02
Features
11 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
- 3 of 3 reported patients
- HyperreflexiaHPOHP:0001347
- 3 of 3 reported patients
- DysarthriaHPOHP:0001260
- 2 of 3 reported patients
- DysphagiaHPOHP:0002015
- 2 of 3 reported patients
- Respiratory insufficiencyHPOHP:0002093
- 2 of 3 reported patients
- Bulbar signsHPOHP:0002483
- 1 of 3 reported patients
- Caudate atrophyHPOHP:0002340
- 1 of 3 reported patients
- Hippocampal atrophyHPOHP:0410170
- 1 of 3 reported patients
- Skeletal muscle atrophyHPOHP:0003202
- 1 of 3 reported patients
- SpasticityHPOHP:0001257
- 1 of 3 reported patients
- TetraparesisHPOHP:0002273
- 1 of 3 reported patients
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.
- NEK1HGNC:7744
- Definitive · ClinGen · Autosomal dominant · 2022
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2023
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Moderate · Genomics England PanelApp · Autosomal dominant · 2021
Where it sits
- A kind of