ORPHA:276058
Genetic neurodegenerative disease with dementia
- Type
- Category
- Group
- Group of disorders
- Status
- active
This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Genetic neurodegenerative disease with dementia | |
| fr | Maladie neurodégénérative génétique avec démence | |
| de | Neurodegenerative Krankheit mit Demenz, genetisch bedingte | |
| es | Enfermedad genética neurodegenerativa con demencia | |
| it | Malattia neurodegenerativa genetica con demenza | |
| nl | Genetische neurodegeneratieve ziekte met dementie | |
| pt | Doença neurodegenerativa genética com demência | |
| pl | Choroba neurodegeneracyjna z otępieniem uwarunkowana genetycznie | |
| cs | Geneticky podmíněná neurodegenerativní nemoc s demencí | |
| uk | Генетично обумовлене нейродегенеративне захворювання з деменцією | |
| zh | 遗传性神经退行性疾病伴痴呆 | |
| tr | Demans ile seyreden genetik nörodejeneratif hastalık |
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| UMLS | C5680753 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
3
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (2):
- ORPHA:158124Genetic dementia
rare genetic diseases - ORPHA:183500Genetic neurodegenerative disease
rare genetic diseases
Children (17):
- ORPHA:313808Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia
- ORPHA:98538Ataxia with dementia
- ORPHA:1020Early-onset autosomal dominant Alzheimer disease
- ORPHA:276061Genetic frontotemporal degeneration with dementia
- ORPHA:411602Hereditary late-onset Parkinson disease
- ORPHA:456318Hereditary sensory neuropathy-deafness-dementia syndrome
- ORPHA:399Huntington disease
- ORPHA:401901Huntington disease-like syndrome due to C9ORF72 expansions
- ORPHA:439254ITM2B amyloidosis
- ORPHA:280400Inherited human prion disease
- ORPHA:248111Juvenile Huntington disease
- ORPHA:2770Nasu-Hakola disease
- ORPHA:263440Neuroacanthocytosis
- ORPHA:385Neurodegeneration with brain iron accumulation
- ORPHA:2289Neuronal intranuclear inclusion disease
- ORPHA:412066PRKAR1B-related neurodegenerative dementia with intermediate filaments
- ORPHA:54247Posterior cortical atrophy
4
Genes
0 directOrphanet records no gene directly on this code.
5
Prevalence and incidence
0 recordsNo prevalence record in this release.
6
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
7
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/276058
- This record as JSON: /data/d/276058.json