Huntington disease-like 2
Synonyms: HDL2
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Adult
- Status
- active
A rare severe neurodegenerative disorder that is considered one of the phenocopies of Huntington Disease (HD) affecting patients of African descent and characterized by a triad of movement (chorea, oculomotor, parkinsonism), psychiatric (prominently sadness, irritability and anxiety), and cognitive abnormalities (early cognitive decline and subcortical-like dementia).
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Huntington disease-like 2 | HDL2 |
| fr | Maladie de Huntington-like 2 | = en |
| de | Chorea Huntington-ähnliche Krankheit 2 | = en |
| es | Enfermedad similar a Huntington, tipo 2 | Enfermedad de Huntington-like, tipo 2 · HDL2 |
| it | Malattia Huntington-simile 2 | = en |
| nl | Ziekte van Huntington-achtig 2 | = en |
| pt | Doença Huntington-like 2 | |
| pl | Choroba podobna do choroby Huntingtona 2 | = en |
| cs | Huntingtonská fenokopie 2 | = en |
| uk | Хвороба Гантінгтон-подібна 2 | = en |
| zh | 类亨廷顿病2 | = en |
| tr | Huntington hastalığı benzeri 2 | = en |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 606438 | E | validated | |
| ICD-10 | G10 | NTBT | attributed | validated |
| ICD-11 | 8A01.11 | NTBT | index | validated |
| MONDO | 0011671 | E | validated | |
| MeSH | C564708 | E | validated | |
| UMLS | C1847987 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:263440Neuroacanthocytosis
rare genetic diseases; rare neurological diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| JPH3 | Disease-causing germline mutation(s) in | Assessed | HGNC:14203 | ENSG00000154118 | 605268 | 16q24.2 | junctophilin 3 |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 50 families | Worldwide | Family(ies) | Validated | 20301701[PMID]_[EXPERT] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
HPO phenotypes
18 annotations · validated 2018-05-30| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Frequent (79-30%) | ||
| HP:0100022 | Abnormality of movement | |
| HP:0000751 | Personality changes | |
| Occasional (29-5%) | ||
| HP:0002060 | Abnormal cerebral morphology | |
| HP:0010994 | Abnormal corpus striatum morphology | |
| HP:0000708 | Atypical behavior | |
| HP:0002340 | Caudate atrophy | |
| HP:0002120 | Cerebral cortical atrophy | |
| HP:0002072 | Chorea | |
| HP:0000726 | Dementia | |
| HP:0001332 | Dystonia | |
| HP:0004302 | Functional motor deficit | |
| HP:0001288 | Gait disturbance | |
| HP:0001347 | Hyperreflexia | |
| HP:0004305 | Involuntary movements | |
| HP:0002354 | Memory impairment | |
| HP:0001300 | Parkinsonism | |
| HP:0002476 | Primitive reflex | |
| HP:0001824 | Weight loss | |
Annotation source: 14557581[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/98934
- This record as JSON: /data/d/98934.json