VPS13A-related neurodegenerative disease
MONDO:0008695Mondo
Findings
No curated finding names VPS13A-related neurodegenerative disease yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Middle age onset · Young adult onset
HPO, annotations 2026-09-02
Features
90 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.
- AcanthocytosisHPOHP:0001927
- 2 of 2 reported patients
- Frequent (30% to 79% of cases)
- ApathyHPOHP:0000741
- 2 of 2 reported patients
- Occasional (5% to 29% of cases)
- BruxismHPOHP:0003763
- 1 of 1 reported patient
- Occasional (5% to 29% of cases)
- Caudate atrophyHPOHP:0002340
- 2 of 2 reported patients
- Frequent (30% to 79% of cases)
- ChoreaHPO · MondoHP:0002072
- 2 of 2 reported patients
- Very frequent (80% to 99% of cases)
- DysarthriaHPOHP:0001260
- 1 of 1 reported patient
- Occasional (5% to 29% of cases)
- DysphagiaHPOHP:0002015
- 1 of 1 reported patient
- Occasional (5% to 29% of cases)
- HypotoniaHPOHP:0001252
- 1 of 1 reported patient
- Lateral ventricle dilatationHPOHP:0006956
- 2 of 2 reported patients
- Frequent (30% to 79% of cases)
- Orofacial dyskinesiaHPOHP:0002310
- 2 of 2 reported patients
- Peripheral axonal neuropathyHPOHP:0003477
- 2 of 2 reported patients
- Frequent (30% to 79% of cases)
- Self-mutilation of tongue and lips due to involuntary movementsHPOHP:0008767
- 2 of 2 reported patients
- Occasional (5% to 29% of cases)
Show the remaining 78
- Involuntary movementsHPOHP:0004305
- Very frequent (80% to 99% of cases)
- Abnormal erythrocyte enzyme concentration or activityHPOHP:0030272
- Frequent (30% to 79% of cases)
- Absent Achilles reflexHPOHP:0003438
- Frequent (30% to 79% of cases)
- Atypical behaviorHPOHP:0000708
- Frequent (30% to 79% of cases)
- Decreased amplitude of sensory action potentialsHPOHP:0007078
- Frequent (30% to 79% of cases)
- Diminished deep tendon reflexHPOHP:0001315
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.
- VPS13AHGNC:1908
- Definitive · Ambry Genetics · Autosomal recessive · 2023
- Definitive · Natera · Autosomal recessive · 2023
- Strong · Genomics England PanelApp · Autosomal recessive · 2021
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2023
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
Other names
5 names
Resolves to: VPS13A-related neurodegenerative disease
- Also called
- CHACchorea-acanthocytosischoreoacanthocytosisLevine-Critchley syndromeVPS13A disease