amyotrophic lateral sclerosis
Findings
No curated finding names amyotrophic lateral sclerosis yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease characterized by progressive muscular paralysis reflecting degeneration of motor neurons in the primary motor cortex, corticospinal tracts, brainstem and spinal cord.
Definition from the Mondo Disease Ontology (MONDO:0004976), read 2026-09-29. CC BY 4.0.
Features
47 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 sclerosisHPO · MondoHP:0007354
- Obligate (100% of cases)
- Generalized muscle weaknessHPOHP:0003324
- Very frequent (80% to 99% of cases)
- Motor neuron atrophyHPOHP:0007373
- Very frequent (80% to 99% of cases)
- NeurodegenerationHPOHP:0002180
- Very frequent (80% to 99% of cases)
- Abnormality on pulmonary function testingHPOHP:0030878
- Frequent (30% to 79% of cases)
- AnxietyHPOHP:0000739
- Frequent (30% to 79% of cases)
- Atypical behaviorHPOHP:0000708
- Frequent (30% to 79% of cases)
- Babinski signHPOHP:0003487
- Frequent (30% to 79% of cases)
- Cognitive impairmentHPOHP:0100543
- Frequent (30% to 79% of cases)
- DepressionHPOHP:0000716
- Frequent (30% to 79% of cases)
- Distal amyotrophyHPOHP:0003693
- Frequent (30% to 79% of cases)
- DroolingHPOHP:0002307
- Frequent (30% to 79% of cases)
Show the remaining 35
- DysarthriaHPOHP:0001260
- Frequent (30% to 79% of cases)
- DysphagiaHPOHP:0002015
- Frequent (30% to 79% of cases)
- DysphoniaHPOHP:0001618
- Frequent (30% to 79% of cases)
- DyspneaHPOHP:0002094
- Frequent (30% to 79% of cases)
- Emotional labilityHPOHP:0000712
- Frequent (30% to 79% of cases)
- FasciculationsHPOHP:0002380
- Frequent (30% to 79% of cases)
Genes
43 genes
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.
- FUSHGNC:4010
- Definitive · Illumina · Autosomal dominant · 2019
- Supportive · Orphanet · Autosomal dominant · 2021
- SPTLC2HGNC:11278
- Strong · ClinGen · Autosomal dominant · 2024
- ARHGEF28HGNC:30322
- Moderate · Genomics England PanelApp · Autosomal dominant · 2021
- Moderate · Genomics England PanelApp · Autosomal recessive · 2021
- Limited · ClinGen · Semidominant · 2024
- DAOHGNC:2671
- Moderate · Genomics England PanelApp · Autosomal dominant · 2021
- Supportive · Orphanet · Autosomal dominant · 2021
Where it sits
Other names
3 names
Resolves to: amyotrophic lateral sclerosis
- Also called
- ALSCharcot diseaseLou Gehrig disease