ABeta amyloidosis, Arctic type
Synonyms: ABetaE22G amyloidosis · HCHWA, Arctic type · Hereditary cerebral hemorrhage with amyloidosis, Arctic type
- Type
- Clinical subtype
- Group
- Subtype of disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Adult, Elderly
- Status
- active
A form of hereditary cerebral hemorrhage with amyloidosis characterized by an age of onset of 54-61 years and progressive Alzheimer's disease-like dementia. This subtype is due to a mutation in the APP gene (21q21.2), encoding the beta-amyloid precursor protein. This mutation causes an increased accumulation of amyloid-beta protein in the walls of the arteries and capillaries of the meninges, cerebellar cortex and cerebral cortex, leading to the weakening and eventual rupture of these vessels.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | ABeta amyloidosis, Arctic type | ABetaE22G amyloidosis · HCHWA, Arctic type · Hereditary cerebral hemorrhage with amyloidosis, Arctic type |
| fr | Amylose ABeta, type arctique | Amylose ABetaE22G · HCHWA type arctique · Hémorragie cérébrale héréditaire avec amylose type arctique |
| de | ABeta-Amyloidose Typ Arktis | ABetaE22G-Amyloidose · HCHWA Typ Arktis · HCHWA vom arktischen Typ · Zerebrale Hämorrhagie mit Amyloidose, hereditäre, arktischer Typ |
| es | Amiloidosis ABeta tipo ártico | Amiloidosis ABetaE22G · HCHWA tipo ártico · Hemorragia cerebral hereditaria con amiloidosis tipo ártico |
| it | Amiloidosi ABeta tipo artico | Amiloidosi ABetaE22G · Emorragia cerebrale ereditaria con amiloidosi, tipo artico · HCHWA tipo artico · HCHWA, tipo artico |
| nl | ABèta-amyloïdose, Arctisch type | ABètaE22G-amyloïdose · Erfelijke cerebrale hemorragie met amyloïdose, Arctisch type · HCHWA, Arctisch type |
| pt | Amiloidose ABeta, tipo Ártico | Amiloidose ABetaE22G · HCHWA, tipo Ártico · Hemorragia cerebral hereditária com amiloidose, tipo Ártico |
| pl | ABeta amyloidoza, typ arktyczny | Amyloidoza ABetaE22G · Dziedziczny krwotok mózgowy z amyloidozą, typ arktyczny · HCHWA, typ arktyczny |
| cs | ABeta amyloidóza, arktický typ | ABetaE22G amyloidóza · HCHWA, arktický typ · Hereditární cerebrální krvácení s amyloidózou, arktický typ |
| uk | Абета-амілоїдоз, арктичний тип | Амілоїдоз ABetaE22G · HCHWA, арктичний тип · Спадковий крововилив у мозок з амілоїдозом, арктичний тип |
| zh | Arctic型Aβ淀粉样变性 | 北极型遗传性脑出血伴淀粉样变性 |
| tr | ABeta amiloidoz, Arctic tip | HCHWA, Arktik tipi · ABetaE22G amiloidoz · Amiloidoz ile seyreden kalıtsal beyin kanaması, Arktik tip |
Definition in:
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 | attributed | validated |
| MONDO | 0017949 | E | validated | |
| UMLS | C5679880 | 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 (1):
- ORPHA:85458Hereditary cerebral amyloid angiopathy
rare genetic diseases; rare neurological diseases; rare systemic and rheumatological diseases
No children.
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 | 18413473[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 1 families | Worldwide | Family(ies) | Validated | 11528419[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_11528419[PMID] |
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
2 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0000708 | Atypical behavior | |
| HP:0002373 | Febrile seizure (within the age range of 3 months to 6 years) | |
Run the differential on the 2 obligate / very frequent terms
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/324723
- This record as JSON: /data/d/324723.json