ACys amyloidosis
Synonyms: CST3-related amyloidosis · Cystatin amyloidosis · HCHWA, Icelandic type · Hereditary cerebral hemorrhage with amyloidosis, Icelandic type · Hereditary cystatin C amyloid angiopathy
- Type
- Clinical subtype
- Group
- Subtype of disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Adolescent, Adult
- Status
- active
A form of hereditary cerebral hemorrhage with amyloidosis characterized by an age of onset of 20-30 years, major systemic amyloidosis and recurrent lobar intracerebral hemorrhages. Unlike other forms of hereditary cerebral hemorrhage with amyloidosis, this subtype is due to a mutation in the <i>CST3</i> gene (20p11.2), encoding the precursor protein cystatin C.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | ACys amyloidosis | CST3-related amyloidosis · Cystatin amyloidosis · HCHWA, Icelandic type · Hereditary cerebral hemorrhage with amyloidosis, Icelandic type · Hereditary cystatin C amyloid angiopathy |
| fr | Amylose ACys | Amylose associée à CST3 · Amylose à cystatine · Angiopathie amyloïde héréditaire à la cystatine C · HCHWA type islandais · Hémorragie cérébrale héréditaire avec amylose type islandais |
| de | ACys-Amyloidose | Amyloidose, CST3-assoziierte · Cystatin-Amyloidose · HCHWA vom isländischen Typ · Hereditäre Cystatin-C-Amyloidangiopathie · Zerebrale Hämorrhagie mit Amyloidose, hereditäre, isländischer Typ |
| es | Amiloidosis ACys | Amiloidosis asociada a CST3 · Amiloidosis por cistatina · Angiopatía amiloide hereditaria por cistatina C · HCHWA tipo islandés · Hemorragia cerebral hereditaria con amiloidosis tipo islandés |
| it | Amiloidosi ACys | Amiloidosi CST3-correlata · Amiloidosi da cistatina · Angiopatia amiloide ereditaria da cistatina C · Emorragia cerebrale ereditaria con amiloidosi, tipo islandese · HCHWA, tipo islandese |
| nl | ACys-amyloïdose | CST3-gerelateerde amyloïdose · Cystatine-amyloïdose · Erfelijke cerebrale hemorragie met amyloïdose, IJslands type · Erfelijke cystatine C amyloïde angiopathie · HCHWA, Ijslands type |
| pt | Hemorragia cerebral com amiloidose, hereditária, tipo islandês | |
| pl | Amyloidoza ACys | Amyloidoza cystatynowa · Amyloidoza zależna od CST3 · Dziedziczna angiopatia amyloidowa zależna od cystatyny C · Dziedziczny krwotok mózgowy z amyloidozą, typ islandzki · HCHWA, typ islandzki |
| cs | Amyloidová angiopatie islandského typu | CST3-vázaná amyloidóza · Cystatinová amyloidóza · HCHWA, Islandský typ · Dědičná cerebrální hemoragie s amyloidózou, islandský typ · Dědičná cystatinová C amyloidní angiopatie |
| uk | Амілоїдоз ACys | Амілоїдоз, повязаний з CST3 · Цистатиновий амілоїдоз · HCHWA, ісландський тип · Спадковий крововилив у мозок з амілоїдозом, ісландський тип · Спадкова амілоїдна ангіопатія з цистатином С |
| zh | ABeta淀粉样变性病 | 冰岛型遗传性脑出血合并淀粉样变性 |
| tr | ACys amiloidoz | Sistatin amiloidoz · HCHWA, İzlanda tipi · CST3-ilişkili amiloidoz · Kalıtsal sistatin C amiloid anjiyopati · Amiloidozlu kalıtsal beyin kanaması, İzlanda tipi |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 105150 | E | validated | |
| ICD-10 | E85.4+ | NTBT | attributed | validated |
| ICD-10 | I68.0* | NTBT | attributed | validated |
| ICD-11 | 8B22.3 | NTBT | index | validated |
| MONDO | 0007098 | E | validated | |
| UMLS | C1527338 | 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 |
|---|---|---|---|---|---|---|---|---|
| CST3 | Disease-causing germline mutation(s) in | Assessed | HGNC:2475 | ENSG00000101439 | 604312 | 20p11.21 | cystatin C | 2541223[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 9 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
5 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0011970 | Cerebral amyloid angiopathy | |
| HP:0001342 | Cerebral hemorrhage | |
| HP:0001297 | Stroke | |
| Frequent (79-30%) | ||
| HP:0011034 | Amyloidosis | |
| Occasional (29-5%) | ||
| HP:0100613 | Death in early adulthood | |
Run the differential on the 3 obligate / very frequent terms
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/100008
- This record as JSON: /data/d/100008.json