amyotrophic lateral sclerosis type 8
Findings
No curated finding names amyotrophic lateral sclerosis type 8 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 VAPB gene.
Definition from the Mondo Disease Ontology (MONDO:0012077), 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
18 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.
- Postural tremorHPOHP:0002174
- 16 of 16 reported patients
- FasciculationsHPOHP:0002380
- 15 of 16 reported patients
- Muscle spasmHPOHP:0003394
- 15 of 16 reported patients
- Proximal muscle weaknessHPOHP:0003701
- 13 of 16 reported patients
- Bulbar signsHPOHP:0002483
- 12 of 16 reported patients
- DysphagiaHPOHP:0002015
- 11 of 16 reported patients
- Proximal amyotrophyHPOHP:0007126
Show the remaining 6
- Abnormal pyramidal tract morphologyHPOHP:0002062
- Amyotrophic lateral sclerosisHPOHP:0007354
- AreflexiaHPOHP:0001284
- Neuronal loss in central nervous systemHPOHP:0002529
- Progressive muscle weaknessHPOHP:0003323
- Skeletal muscle atrophyHPOHP:0003202
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.
- VAPBHGNC:12649
- Definitive · ClinGen · Autosomal dominant · 2021
- Strong · Genomics England PanelApp · Autosomal dominant · 2021
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2022
Where it sits
Other names
4 names
Resolves to: amyotrophic lateral sclerosis type 8
- Also called
- ALS8amyotrophic lateral sclerosis 8amyotrophic lateral sclerosis caused by mutation in VAPBVAPB amyotrophic lateral sclerosis