Huntington disease-like 3
Synonyms: HDL3
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Childhood
- Status
- active
Huntington disease-like 3 is a rare Huntington disease-like syndrome characterized by childhood-onset progressive neurologic deterioration with pyramidal and extrapyramidal abnormalities, chorea, dystonia, ataxia, gait instability, spasticity, seizures, mutism, and (on brain MRI) progressive frontal cortical atrophy and bilateral caudate atrophy.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Huntington disease-like 3 | HDL3 |
| fr | Maladie de Huntington-like 3 | = en |
| de | Chorea Huntington-ähnliche Krankheit 3 | = en |
| es | Enfermedad similar a Huntington, tipo 3 | Enfermedad de Huntington-like, tipo 3 · HDL3 |
| it | Malattia Huntington-simile 3 | = en |
| nl | Ziekte van Huntington-achtig 3 | = en |
| pt | Doença de Huntington-like 3 | |
| pl | Choroba podobna do choroby Huntingtona typu 3 | = en |
| cs | Syndrom podobný Huntingtonově chorobě 3 | = en |
| uk | Хвороба Гентингтон-подібна 3 | = en |
| zh | 类亨廷顿病3 | = en |
| tr | Huntington hastalığı-benzeri 3 | = en |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 604802 | E | validated | |
| ICD-10 | G10 | NTBT | attributed | validated |
| ICD-11 | 8A01.11 | NTBT | index | validated |
| MONDO | 0011487 | E | validated | |
| MeSH | C565747 | E | validated | |
| UMLS | C1858114 | 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 (4):
- ORPHA:158266Huntington disease-like syndrome
rare genetic diseases; rare neurological diseases - ORPHA:307058Miscellaneous movement disorder due to genetic neurodegenerative disease
rare genetic diseases - ORPHA:306695Miscellaneous movement disorder due to neurodegenerative disease
rare neurological diseases - ORPHA:182070Rare neurodegenerative disease
rare neurological diseases
No children.
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | <1 / 1 000 000 | — | Europe | Class only | Not yet 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
22 annotations · validated 2018-11-07| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Frequent (79-30%) | ||
| HP:0002457 | Abnormal head movements | |
| HP:0007256 | Abnormal pyramidal sign | |
| HP:0002071 | Abnormality of extrapyramidal motor function | |
| HP:0002167 | Abnormality of speech or vocalization | |
| HP:0000708 | Atypical behavior | |
| HP:0002607 | Bowel incontinence | |
| HP:0002136 | Broad-based gait | |
| HP:0002340 | Caudate atrophy | |
| HP:0002120 | Cerebral cortical atrophy | |
| HP:0002072 | Chorea | |
| HP:0100543 | Cognitive impairment | |
| HP:0001332 | Dystonia | |
| HP:0007308 | Extrapyramidal dyskinesia | |
| HP:0007076 | Extrapyramidal muscular rigidity | |
| HP:0001371 | Flexion contracture | |
| HP:0005327 | Loss of facial expression | |
| HP:0002300 | Mutism | |
| HP:0007240 | Progressive gait ataxia | |
| HP:0002361 | Psychomotor deterioration | |
| HP:0001250 | Seizure | |
| HP:0001257 | Spasticity | |
| HP:0000020 | Urinary incontinence | |
Annotation source: 27605280[PMID]_10677304[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/157946
- This record as JSON: /data/d/157946.json