ABeta amyloidosis, Iowa type
Synonyms: ABetaD23N amyloidosis · HCHWA, Iowa type · Hereditary cerebral hemorrhage with amyloidosis, Iowa type
- Type
- Clinical subtype
- Group
- Subtype of disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Elderly
- Status
- active
A form of hereditary cerebral hemorrhage with amyloidosis characterized by age of onset between 50-66 years of age, memory impairment, myoclonic jerks, expressive dysphagia, short-stepped gait, personality changes, and lobar intracerebral hemorrhages. 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, Iowa type | ABetaD23N amyloidosis · HCHWA, Iowa type · Hereditary cerebral hemorrhage with amyloidosis, Iowa type |
| fr | Amylose ABeta type Iowa | Amylose ABetaD23N · HCHWA type Iowa · Hémorragie cérébrale héréditaire avec amylose type Iowa |
| de | ABeta-Amyloidose Typ Iowa | ABetaD23N-Amyloidose · HCHWA Typ Iowa · Hereditäre zerebrale Hämorrhagie mit Amyloidose vom Typ Iowa |
| es | Amiloidosis ABeta tipo Iowa | Amiloidosis ABetaD23N · HCHWA tipo Iowa · Hemorragia cerebral hereditaria con amiloidosis tipo Iowa |
| it | Amiloidosi ABeta, tipo Iowa | Amiloidosi ABetaD23N · Emorragia cerebrale ereditaria con amiloidosi, tipo Iowa · HCHWA, tipo Iowa |
| nl | ABèta-amyloïdose, Iowa-type | ABètaD23N-amyloïdose · Erfelijke cerebrale hemorragie met amyloïdose, Iowa-type · HCHWA, Iowa-type |
| pt | Hemorragia cerebral hereditária com amiloidose, tipo Iowa | |
| pl | ABeta amyloidoza, typ Iowa | Amyloidoza ABetaD23N · Dziedziczny krwotok mózgowy z amyloidozą, typ Iowa · HCHWA, typ Iowa |
| cs | ABeta amyloidóza, iowský typ | ABetaD23N amyloidóza · HCHWA, iowský typ · Hereditární cerebrální krvácení s amyloidózou, iowský typ |
| uk | Абета-амілоїдоз, тип Айова | Амілоїдоз ABetaD23N · HCHWA, тип Айова · Спадковий крововилив у мозок з амілоїдозом, тип Айова |
| zh | Iowa型AβL34V淀粉样变性 | Iowa型遗传性脑出血伴淀粉样变性 |
| tr | ABeta amiloidoz, Iowa tipi | HCHWA, Iowa tipi · ABetaD23N amiloidoz · Amiloidoz ile seyreden kalıtsal beyin kanaması, Iowa 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 | 0017946 | E | validated | |
| UMLS | C5679881 | 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 | 12557012[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 2 families | Worldwide | Family(ies) | Validated | 11409420[PMID]_12654973[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_11409420[PMID]_12654973[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
9 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0100659 | Abnormality of the cerebral vasculature | |
| HP:0000708 | Atypical behavior | |
| HP:0001342 | Cerebral hemorrhage | |
| HP:0000726 | Dementia | |
| HP:0002015 | Dysphagia | |
| HP:0001288 | Gait disturbance | |
| HP:0002354 | Memory impairment | |
| HP:0001336 | Myoclonus | |
| HP:0001297 | Stroke | |
Run the differential on the 9 obligate / very frequent terms
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/324708
- This record as JSON: /data/d/324708.json