Benign hereditary chorea
Synonyms: BHC · Benign familial chorea
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Childhood, Infancy
- Status
- active
A rare, genetic, movement disorder characterized by early-onset, very slowly progressive choreiform movements that may involve variable parts of the body, typically aggravated by stress or anxiety, in various members of a family. Additional variable manifestations include hypotonia, often resulting in psychomotor delay (including gait disturbances) and dysarthria, as well as myoclonus, dystonia, behavioral symptoms (ADHD, obsessive-compulsive disorder), learning difficulties (particularly in writing) and spasticity with hyperreflexia and/or flexor/extensor plantar reflexes.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Benign hereditary chorea | BHC · Benign familial chorea |
| fr | Chorée bénigne héréditaire | Chorée bénigne familiale |
| de | Chorea, benigne hereditäre | BHC · Chorea, familiäre gutartige |
| es | Corea benigna hereditaria | BHC · Corea benigna familiar |
| it | Corea ereditaria benigna | Corea ereditaria benigna |
| nl | Goedaardige erfelijke chorea | BHC · Goedaardige familiale chorea |
| pt | Coreia benigna familiar | |
| pl | Dziedziczna łagodna pląsawica | Rodzinna łagodna pląsawica |
| cs | Benigní familiární chorea | Benigní hereditární chorea |
| uk | Доброякісна спадкова хорея | Доброякісна сімейна хорея · BHC |
| zh | 良性遗传性舞蹈症 | 良性家族性舞蹈症 |
| tr | Selim kalıtsal korea | BHC · Selim ailesel kore |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 118700 | E | validated | |
| OMIM | 215450 | BTNT | validated | |
| ICD-10 | G25.5 | NTBT | attributed | validated |
| ICD-11 | 8A01.0 | E | specific | validated |
| MONDO | 0001595 | E | validated | |
| MONDO | 1595 | E | validated | |
| UMLS | C0393584 | E | validated | |
| GARD | 1305 | 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 (2):
- ORPHA:158266Huntington disease-like syndrome
rare genetic diseases; rare neurological diseases - ORPHA:306719Neurodegenerative disease with chorea
rare genetic diseases; rare neurological diseases
No children.
Genes
2 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| ADCY5 | Disease-causing germline mutation(s) in | Assessed | HGNC:236 | ENSG00000173175 | 600293 | 3q21.1 | adenylate cyclase 5 | 26085604[PMID] |
| NKX2-1 | Disease-causing germline mutation(s) in | Assessed | HGNC:11825 | ENSG00000136352 | 600635 | 14q13.3 | NK2 homeobox 1 | 12891678[PMID]_16220345[PMID]_24555207[PMID] |
Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | <1 / 1 000 000 | 0.02 / 100 000 | Worldwide | Value and class | Validated | 26196025[PMID]_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
2 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0100022 | Abnormality of movement | |
| HP:0001288 | Gait disturbance | |
Run the differential on the 2 obligate / very frequent terms
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/1429
- This record as JSON: /data/d/1429.json