Huntington disease-like 2
Findings
No curated finding names Huntington disease-like 2 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Huntington disease-like 2 (HDL2) is a severe neurodegenerative disorder considered part of the neuroacanthocytosis syndromes characterized by a triad of movement, psychiatric, and cognitive abnormalities.
Definition from the Mondo Disease Ontology (MONDO:0011671), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Middle age onset
HPO, annotations 2026-09-02
Features
20 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.
- Cerebral cortical atrophyHPOHP:0002120
- 1 of 1 reported patient
- Occasional (5% to 29% of cases)
- ChoreaHPOHP:0002072
- 1 of 1 reported patient
- Occasional (5% to 29% of cases)
- InertiaHPOHP:0030216
- 1 of 1 reported patient
- Memory impairmentHPOHP:0002354
- 1 of 1 reported patient
- Occasional (5% to 29% of cases)
- Subcortical dementiaHPOHP:0007123
- 1 of 1 reported patient
- Abnormality of movementHPOHP:0100022
- Frequent (30% to 79% of cases)
Show the remaining 8
- DystoniaHPOHP:0001332
- Occasional (5% to 29% of cases)
- Functional motor deficitHPOHP:0004302
- Occasional (5% to 29% of cases)
- Gait disturbanceHPOHP:0001288
- Occasional (5% to 29% of cases)
- HyperreflexiaHPOHP:0001347
- Occasional (5% to 29% of cases)
- Involuntary movementsHPOHP:0004305
- Occasional (5% to 29% of cases)
- ParkinsonismHPOHP:0001300
- Occasional (5% to 29% of cases)
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.
- JPH3HGNC:14203
- Definitive · Ambry Genetics · Autosomal dominant · 2018
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2021
- Supportive · Orphanet · Autosomal dominant · 2021
Where it sits
- A kind of
Other names
2 names
Resolves to: Huntington disease-like 2
- Also called
- HDL2Huntington disease-like type 2