ORPHA:248111
Juvenile Huntington disease
Synonyms: JHD · Juvenile Huntington chorea
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Adolescent, Childhood
- Status
- active
Juvenile Huntington disease (JHD) is a form of Huntington disease (HD), characterized by onset of signs and symptoms before 20 years of age.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Juvenile Huntington disease | JHD · Juvenile Huntington chorea |
| fr | Maladie de Huntington juvénile | Chorée de Huntington juvénile · JHD |
| de | Juvenile Huntington-Krankheit | JHD |
| es | Enfermedad de Huntington juvenil | JHD · Corea de Huntington juvenil |
| it | Malattia di Huntington giovanile | Corea di Huntington giovanile · JHD |
| nl | Juveniele ziekte van Huntington | JHD · Juveniele chorea van Huntington |
| pt | Doença de Huntington juvenil | |
| pl | Młodzieńcza choroba Huntingtona | JHD · Młodzieńcza pląsawica Huntingtona |
| cs | Juvenilní Huntingtonova choroba | JHD · Juvenilní Huntingtonova chorea |
| uk | Ювенільна хвороба Гантінгтона | JHD · Ювенільна хорея Гентингтона |
| zh | 青少年亨廷顿舞蹈病 | 青少年亨廷顿舞蹈症 |
| tr | Jüvenil Huntington hastalığı | JHD · jüvenil Huntington kore |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 143100 | NTBT | validated | |
| ICD-10 | G10 | NTBT | attributed | validated |
| MONDO | 0016621 | E | validated | |
| UMLS | C0751208 | E | validated | |
| GARD | 10510 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (5):
- ORPHA:276058Genetic neurodegenerative disease with dementia
rare genetic diseases - ORPHA:306719Neurodegenerative disease with chorea
rare genetic diseases; rare neurological diseases - ORPHA:98534Neurodegenerative disease with dementia
rare neurological diseases - ORPHA:522522Rare genetic neuromuscular disorder with ocular motility/alignment anomaly
rare genetic diseases - ORPHA:519347Rare neuromuscular disorder with ocular motility/alignment anomaly
rare ophthalmic disorders
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| HTT | Disease-causing germline mutation(s) in | Assessed | HGNC:4851 | ENSG00000197386 | 613004 | 4p16.3 | huntingtin | 17181545[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Annual incidence | <1 / 1 000 000 | 0.04 / 100 000 | Europe | Value and class | Validated | [EXPERT] |
| Point prevalence | 1-9 / 1 000 000 | 0.6 / 100 000 | Europe | Value and class | Validated | [EXPERT] |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
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HPO phenotypes
24 annotations · validated 2018-03-12| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Frequent (79-30%) | ||
| HP:0002500 | Abnormal cerebral white matter morphology | |
| HP:0012547 | Abnormal involuntary eye movements | |
| HP:0001251 | Ataxia | |
| HP:0000708 | Atypical behavior | |
| HP:0002067 | Bradykinesia | |
| HP:0002136 | Broad-based gait | |
| HP:0002072 | Chorea | |
| HP:0000726 | Dementia | |
| HP:0000716 | Depression | |
| HP:0001332 | Dystonia | |
| HP:0002066 | Gait ataxia | |
| HP:0000752 | Hyperactivity | |
| HP:0001347 | Hyperreflexia | |
| HP:0000737 | Irritability | |
| HP:0200147 | Neuronal loss in basal ganglia | |
| HP:0030190 | Oral motor hypotonia | |
| HP:0002063 | Rigidity | |
| HP:0001250 | Seizure | |
| HP:0001824 | Weight loss | |
| Occasional (29-5%) | ||
| HP:0001272 | Cerebellar atrophy | |
| HP:0006855 | Cerebellar vermis atrophy | |
| HP:0001336 | Myoclonus | |
| HP:0002073 | Progressive cerebellar ataxia | |
| HP:0002119 | Ventriculomegaly | |
Annotation source: 17562929[PMID]_11553930[PMID]_12791042[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/248111
- This record as JSON: /data/d/248111.json