Huntington disease-like 1
Synonyms: Early-onset prion disease with prominent psychiatric features · HDL1
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Adult
- Status
- active
A rare, genetic, human prion disease characterized by adult-onset neurodegenerative manifestations associated with a movement disorder and psychiatric/behavioral disturbances. Patients typically present personality changes, aggressiveness, manias, anxiety and/or depression in conjunction with rapidly progressive cognitive decline (presenting with dysarthria, apraxia, aphasia, and eventually leading to dementia) as well as ataxia (manifesting with gait disturbances, unsteadiness, coordination problems), Parkinsonism, myoclonus, and/or chorea. Additional features may include generalized spasticity, seizures, urine incontinence and pyramidal abnormalities.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Huntington disease-like 1 | Early-onset prion disease with prominent psychiatric features · HDL1 |
| fr | Maladie de Huntington-like 1 | HDL1 · Maladie à prion à début précoce et signes psychiatriques prédominants |
| de | Chorea Huntington-ähnliche Krankheit 1 | Früh-einsetzende Prionkrankheit mit prominenten psychiatrischen Merkmalen · HDL1 |
| es | Enfermedad similar a Huntington, tipo 1 | Enfermedad de Huntington-like, tipo 1 · Enfermedad priónica de inicio precoz con manifestaciones psiquiátricas destacadas · HDL1 |
| it | Malattia Huntington-simile 1 | HDL1 · Malattia da prioni a esordio precoce con predominanza dei segni psichiatrici |
| nl | Ziekte van Huntington-achtig 1 | HDL1 · Vroeg optredende prionziekte met duidelijke psychiatrische kenmerken |
| pt | Doença de Huntington-like 1 | |
| pl | Choroba podobna do choroby Huntingtona typu 1 | Choroba prionowa o wczesnym początku z wyraźnymi objawami psychicznymi · HDL1 |
| cs | Syndrom podobný Huntingtonově chorobě 1 | HDL1 · Prionové onemocnění s časným nástupem s výraznými psychiatrickými rysy |
| uk | Хвороба Гентингтон-подібна 1 | Пріонна хвороба з раннім початком і вираженими психіатричними проявами · HDL1 |
| zh | 类亨廷顿病1 | 早发型朊病毒病伴显著精神症状 |
| tr | Huntington hastalığı-benzeri 1 | HDL1 · Belirgin psikiyatrik özellikler ile seyreden erken başlangıçlı prion hastalığı |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 603218 | E | validated | |
| ICD-10 | G10 | NTBT | attributed | validated |
| ICD-11 | 8A01.11 | NTBT | index | validated |
| MONDO | 0011299 | E | validated | |
| MeSH | C566398 | E | validated | |
| UMLS | C1864112 | 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:280400Inherited human prion disease
rare genetic diseases; rare neurological diseases - ORPHA:306719Neurodegenerative disease with chorea
rare genetic diseases; rare neurological diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| PRNP | Disease-causing germline mutation(s) in | Assessed | HGNC:9449 | ENSG00000171867 | 176640 | 20p13 | prion protein (Kanno blood group) | 11593450[PMID]_24275071[PMID] |
Prevalence and incidence
0 recordsNo prevalence record in this release.
HPO phenotypes
44 annotations · validated 2018-05-30| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0002072 | Chorea | |
| Frequent (79-30%) | ||
| HP:0000708 | Atypical behavior | |
| HP:0100543 | Cognitive impairment | |
| HP:0000746 | Delusion | |
| HP:0000726 | Dementia | |
| HP:0000716 | Depression | |
| HP:0001260 | Dysarthria | |
| HP:0002066 | Gait ataxia | |
| HP:0001288 | Gait disturbance | |
| HP:0004305 | Involuntary movements | |
| HP:0002119 | Ventriculomegaly | |
| Occasional (29-5%) | ||
| HP:0002134 | Abnormal basal ganglia morphology | |
| HP:0002457 | Abnormal head movements | |
| HP:0002533 | Abnormal posturing | |
| HP:0000570 | Abnormal saccadic eye movements | |
| HP:0000496 | Abnormality of eye movement | |
| HP:0011446 | Abnormality of higher mental function | |
| HP:0000617 | Abnormality of ocular smooth pursuit | |
| HP:0003043 | Abnormality of the shoulder | |
| HP:0002067 | Bradykinesia | |
| HP:0001272 | Cerebellar atrophy | |
| HP:0002120 | Cerebral cortical atrophy | |
| HP:0002312 | Clumsiness | |
| HP:0000750 | Delayed speech and language development | |
| HP:0001310 | Dysmetria | |
| HP:0002353 | EEG abnormality | |
| HP:0002359 | Frequent falls | |
| HP:0001290 | Generalized hypotonia | |
| HP:0002171 | Gliosis | |
| HP:0006801 | Hyperactive deep tendon reflexes | |
| HP:0002375 | Hypokinesia | |
| HP:0002311 | Incoordination | |
| HP:0006961 | Jerky head movements | |
| HP:0008003 | Jerky ocular pursuit movements | |
| HP:0000298 | Mask-like facies | |
| HP:0002354 | Memory impairment | |
| HP:0000639 | Nystagmus | |
| HP:0007010 | Poor fine motor coordination | |
| HP:0000711 | Restlessness | |
| HP:0001250 | Seizure | |
| HP:0040201 | Simultanapraxia | |
| HP:0000514 | Slow saccadic eye movements | |
| HP:0001350 | Slurred speech | |
| HP:0001824 | Weight loss | |
Run the differential on the 1 obligate / very frequent terms
Annotation source: 8178825[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/157941
- This record as JSON: /data/d/157941.json