ORPHA:100006
ABeta amyloidosis, Dutch type
Synonyms: ABetaE22Q amyloidosis · HCHWA, Dutch type · HCHWA-D · Hereditary cerebral hemorrhage with amyloidosis, Dutch type
- Type
- Clinical subtype
- Group
- Subtype of disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Adult
- Status
- active
A form of hereditary cerebral hemorrhage with amyloidosis characterized by severe cerebral amyloid angiopathy (CAA), predominantly hemorrhagic strokes and dementia.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | ABeta amyloidosis, Dutch type | ABetaE22Q amyloidosis · HCHWA, Dutch type · HCHWA-D · Hereditary cerebral hemorrhage with amyloidosis, Dutch type |
| fr | Amylose ABeta, type néerlandais | Amylose ABetaE22Q · HCHWA type néerlandais · HCHWA-D · Hémorragie cérébrale héréditaire avec amylose type néerlandais |
| de | Abeta-Amyloidose vom holländischen Typ | ABetaE22Q-Amyloidose · HCHWA vom holländischen Typ · HCHWA-D · Zerebrale Hämorrhagie mit Amyloidose, hereditäre, holländischer Typ |
| es | Amiloidosis ABeta tipo neerlandés | Amiloidosis ABetaE22Q · HCHWA tipo neerlandés · HCHWA-D · Hemorragia cerebral hereditaria con amiloidosis tipo neerlandés |
| it | Amiloidosi Abeta, tipo olandese | Amiloidosi ABetaE22Q · Emorragia cerebrale ereditaria con amiloidosi, tipo olandese · HCHWA, tipo olandese · HCHWA-D |
| nl | ABèta-amyloïdose, Nederlands type | ABètaE22Q-amyloïdose · Erfelijke cerebrale hemorragie met amyloïdose, Nederlands type · HCHWA, Nederlands type · HCHWA-D |
| pt | Amiloidose ABeta, tipo Holandês | Amiloidose ABeta E22Q · HCHWA, tipo Holandês · HCHWA-D · Hemorragia cerebral com amiloidose hereditária, tipo holandês |
| pl | Amyloidoza BetaE22Q, typ holenderski | Amyloidoza BetaE22Q · Dziedziczny krwotok mózgowy z amyloidozą, typ holenderski · HCHWA, typ holenderski · HCHWA-D · Amyloidoza ABeta typu holenderskiego |
| cs | ABeta amyloidóza, holandský typ | ABetaE22Q amyloidóza · HCHWA, holandský typ · HCHWA-D · Dědičná cerebrální hemoragie s amyloidózou, holandský typ |
| uk | Абета-амілоїдоз, голландський тип | Амілоїдоз ABetaE22Q · HCHWA, голландський тип · HCHWA-D · Спадковий крововилив у мозок з амілоїдозом, голландський тип |
| zh | Dutch型ABeta淀粉样变性病 | Dutch型遗传性脑出血合并淀粉样变性 |
| tr | ABeta amiloidoz, Hollanda tipi | HCHWA-D · HCHWA, Dutch tipi · ABetaE22Q amiloidoz · Amiloidozlu kalıtsal beyin kanaması, Dutch tipi |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 605714 | NTBT | validated | |
| ICD-10 | E85.4+ | NTBT | attributed | validated |
| ICD-10 | I68.0* | NTBT | attributed | validated |
| ICD-11 | 8B22.3 | NTBT | index | validated |
| MONDO | 0015033 | E | validated | |
| UMLS | C2931672 | 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 (1):
- ORPHA:85458Hereditary cerebral amyloid angiopathy
rare genetic diseases; rare neurological diseases; rare systemic and rheumatological diseases
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| APP | Disease-causing germline mutation(s) in | Assessed | HGNC:620 | ENSG00000142192 | 104760 | 21q21.3 | amyloid beta precursor protein | 24870607[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 250 cases | Worldwide | Case(s) | Validated | [EXPERT] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | 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.
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HPO phenotypes
10 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0000708 | Atypical behavior | |
| HP:0001342 | Cerebral hemorrhage | |
| HP:0000726 | Dementia | |
| HP:0002315 | Headache | |
| HP:0001268 | Mental deterioration | |
| HP:0001297 | Stroke | |
| Frequent (79-30%) | ||
| HP:0011970 | Cerebral amyloid angiopathy | |
| HP:0002514 | Cerebral calcification | |
| HP:0001250 | Seizure | |
| Occasional (29-5%) | ||
| HP:0100613 | Death in early adulthood | |
Run the differential on the 6 obligate / very frequent terms
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/100006
- This record as JSON: /data/d/100006.json