frontotemporal dementia and/or amyotrophic lateral sclerosis 6
Findings
No curated finding names frontotemporal dementia and/or amyotrophic lateral sclerosis 6 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 VCP gene.
Definition from the Mondo Disease Ontology (MONDO:0013501), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Middle age onset
HPO, annotations 2026-09-02
Features
24 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.
- EMG: chronic denervation signsHPOHP:0003444
- 4 of 4 reported patients
- Muscle weaknessHPOHP:0001324
- 9 of 9 reported patients
- Type 1 muscle fiber predominanceHPOHP:0003803
- 1 of 1 reported patient
- Brisk reflexesHPOHP:0001348
- 5 of 9 reported patients
- Babinski signHPOHP:0003487
- 3 of 9 reported patients
- Elevated circulating creatine kinase activityHPOHP:0003236
- 2 of 9 reported patients
- Ankle clonusHPO
Show the remaining 12
- Personality changesHPOHP:0000751
- 1 of 9 reported patients
- Abnormal lower motor neuron morphologyHPOHP:0002366
- Amyotrophic lateral sclerosisHPOHP:0007354
- DepressionHPOHP:0000716
- DysarthriaHPOHP:0001260
- DysphagiaHPOHP:0002015
- Proximal lower limb muscle weaknessHPOHP:0008994
- Proximal upper limb muscle weaknessHPOHP:0008997
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.
- VCPHGNC:12666
- Strong · Genomics England PanelApp · Autosomal dominant · 2021
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2023
Where it sits
Other names
2 names
Resolves to: frontotemporal dementia and/or amyotrophic lateral sclerosis 6
- Also called
- amyotrophic lateral sclerosis caused by mutation in VCPVCP amyotrophic lateral sclerosis