ABetaA21G amyloidosis
Synonyms: ABeta amyloidosis, Flemish type · ABetaA21G-related amyloidosis · HCHWA, Flemish type · Hereditary cerebral hemorrhage with amyloidosis, Flemish 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 an age of onset of 45 years of age, progressive Alzheimer's disease-like dementia, and lobar intracerebral hemorrhage in some patients. 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 | ABetaA21G amyloidosis | ABeta amyloidosis, Flemish type · ABetaA21G-related amyloidosis · HCHWA, Flemish type · Hereditary cerebral hemorrhage with amyloidosis, Flemish type |
| fr | Amylose ABetaA21G | Amylose ABeta, type flamande · Amylose associée à ABetaA21G · HCHWA type flamande · Hémorragie cérébrale héréditaire avec amylose type flamande |
| de | ABetaA21G-Amyloidose | ABeta-Amyloidose vom flämischen Typ · Amyloidose, ABetaA21G-assoziierte · Beta-Amyloidose vom flämischen Typ · HCHWA Typ Flandern · Zerebrale Hämorrhagie mit Amyloidose, hereditäre, flämischer Typ |
| es | Amiloidosis ABetaA21G | Amiloidosis ABeta tipo flamenco · Amiloidosis asociada a ABetaA21G · HCHWA tipo flamenco · Hemorragia cerebral hereditaria con amiloidosis tipo flamenco |
| it | Amiloidosi ABetaA21G | Amiloidosi ABetaA21G-correlata · Amiloidosi beta, tipo fiammingo · Emorragia cerebrale ereditaria con amiloidosi, tipo fiammingo · HCHWA, tipo fiammingo |
| nl | ABètaA21G-amyloïdose | ABèta-amyloïdose, Vlaams type · ABètaA21G-gerelateerde amyloïdose · Erfelijke cerebrale hemorragie met amyloïdose, Vlaams type · HCHWA, Vlaams type |
| pt | Hemorragia cerebral hereditária com amiloidose, tipo Flamengo | |
| pl | Amyloidoza ABetaA21G | Amyloidoza zależna od ABetaA21G · Beta amyloidoza, typ flamandzki · Dziedziczny krwotok mózgowy z amyloidozą, typ flamandzki · HCHWA, typ flamandzki |
| cs | ABetaA21G amyloidóza | ABetaA21G-vázaná amyloidóza · Beta amyloidóza, Flemishův typ · HCHWA, Flemishův typ · Hereditární cerebrální krvácení s amyloidózou, Flemishův typ |
| uk | Амілоїдоз ABetaA21G | Абета-амілоїдоз, фламандський тип · Амілоїдоз, повязаний з ABetaA21G · HCHWA, фламандський тип · Спадковий крововилив у мозок з амілоїдозом, фламандський тип |
| zh | AβA21G淀粉样变性 | Flemish型遗传性脑出血伴淀粉样变性 |
| tr | ABetaA21G amiloidoz | HCHWA, Flaman tipi · ABetaA21G-ilişkili amiloidoz · ABeta amiloidoz, Flaman tipi · Amiloidoz ile seyreden kalıtsal beyin kanaması, Flaman 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 | 0017948 | E | validated | |
| UMLS | C5679878 | 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 | 1303239[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 2 families | Worldwide | Family(ies) | 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.
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/324718
- This record as JSON: /data/d/324718.json