ABeta amyloidosis, Italian type
Synonyms: ABetaE22K amyloidosis · HCHWA, Italian type · Hereditary cerebral hemorrhage with amyloidosis, Italian 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 50 years of age, dementia and lobar intracerebral hemorrhage. This subtype is due to a mutation in the <i>APP</i> 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, Italian type | ABetaE22K amyloidosis · HCHWA, Italian type · Hereditary cerebral hemorrhage with amyloidosis, Italian type |
| fr | Amylose ABeta, type italien | Amylose ABetaE22K · HCHWA type italien · Hémorragie cérébrale héréditaire avec amylose type italien |
| de | Beta-Amyloidose vom Italienischen Typ | ABetaE22K-Amyloidose · HCHWA Typ Italien · HCHWA vom italienischen Typ · Zerebrale Hämorrhagie mit Amyloidose, hereditäre, italienischer Typ |
| es | Amiloidosis ABeta tipo italiano | Amiloidosis ABetaE22K · HCHWA tipo italiano · Hemorragia cerebral hereditaria con amiloidosis tipo italiano |
| it | Amiloidosi Abeta, tipo italiano | Amiloidosi ABetaE22K · Emorragia cerebrale ereditartia con amiloidosi, tipo italiano · HCHWA, tipo italiano |
| nl | ABèta-amyloïdose, Italiaans type | ABètaE22K-amyloïdose · Erfelijke cerebrale hemorragie met amyloïdose, Italiaans type · HCHWA, Italiaans type |
| pt | Hemorragia cerebral hereditária com amiloidose, tipo Italiano | |
| pl | Beta amyloidoza, typ włoski | Amyloidoza ABetaE22K · Dziedziczny krwotok mózgowy z amyloidozą, typ włoski · HCHWA, typ włoski |
| cs | ABeta amyloidóza, italský typ | ABetaE22K amyloidóza · HCHWA, italský typ · Hereditární cerebrální krvácení s amyloidózou, italský typ |
| uk | Абета-амілоїдоз, італійський тип | Амілоїдоз ABetaE22K · HCHWA, італійський тип · Спадковий крововилив у мозок з амілоїдозом, італійський тип |
| zh | 意大利型AβL34V淀粉样变性 | 意大利型遗传性脑出血伴淀粉样变性 |
| tr | ABeta amiloidoz, İtalyan tipi | HCHWA, İtalyan tipi · ABetaE22K amiloidoz · Amiloidoz ile seyreden kalıtsal beyin kanaması, İtalyan tipi |
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 | 0017947 | E | validated | |
| UMLS | C5679879 | 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 | 20697050[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 7 families | Worldwide | Family(ies) | Validated | 20697050[PMID]_10821838[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_20697050[PMID]_10821838[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
7 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001342 | Cerebral hemorrhage | |
| HP:0002076 | Migraine | |
| HP:0001297 | Stroke | |
| Frequent (79-30%) | ||
| HP:0001259 | Coma | |
| HP:0000726 | Dementia | |
| HP:0001268 | Mental deterioration | |
| HP:0001250 | Seizure | |
Run the differential on the 3 obligate / very frequent terms
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/324713
- This record as JSON: /data/d/324713.json