ORPHA:85458
Hereditary cerebral amyloid angiopathy
Synonyms: HCHWA · Hereditary cerebral hemorrhage with amyloidosis
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Adult
- Status
- active
A rare genetic cerebral small vessel disease characterized by amyloid deposition in the cerebral blood vessels leading to predominantly hemorrhagic strokes, focal neurological deficits, and progressive cognitive decline eventually leading to dementia.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Hereditary cerebral amyloid angiopathy | HCHWA · Hereditary cerebral hemorrhage with amyloidosis |
| fr | Angiopathie amyloïde cérébrale héréditaire | HCHWA · Hémorragie cérébrale héréditaire avec amylose |
| de | Zerebrale Amyloidangiopathie, hereditäre | HCHWA · Hereditäre zerebrale Hämorrhagie mit Amyloidose |
| es | Angiopatía amiloide cerebral hereditaria | HCHWA · Hemorragia cerebral hereditaria con amiloidosis |
| it | Angiopatia amiloide cerebrale ereditaria | Emorragia cerebrale ereditaria con amiloidosi · HCHWA |
| nl | Hereditaire cerebrale amyloïdangiopathie | HCHWA · Hereditaire cerebrale hemorragie met amyloïdose |
| pt | Angiopatia amiloide cerebral | Hemorragia cerebral hereditária com amiloidose |
| pl | Dziedziczny krwotok mózgowy z amyloidozą | HCHWA |
| cs | Hereditární mozkové krvácení s amyloidózou | HCHWA |
| uk | Церебральна амілоїдна ангіопатія | HCHWA · Спадковий крововилив у мозок з амілоїдозом |
| zh | 遗传性脑出血伴淀粉样变 | HCHWA |
| tr | Amiloidoz ile seyreden kalıtsal beyin kanaması | HCHWA |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 105150 | BTNT | validated | |
| OMIM | 605714 | BTNT | validated | |
| ICD-10 | E85.4+ | NTBT | attributed | validated |
| ICD-10 | I68.0* | NTBT | attributed | validated |
| ICD-11 | 8B22.3 | NTBT | attributed | validated |
| MONDO | 5620 | E | validated | |
| UMLS | C1510489 | E | validated | |
| GARD | 10266 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (4):
- ORPHA:69Amyloidosis
rare systemic and rheumatological diseases - ORPHA:477754Genetic cerebral small vessel disease
rare genetic diseases; rare neurological diseases - ORPHA:444116Hereditary amyloidosis
rare genetic diseases - ORPHA:98549Rare cerebrovascular dementia
rare genetic diseases; rare neurological diseases
4
Genes
0 direct · 7 via subtypesOrphanet records no gene directly on this code.
Recorded by Orphanet on subtypes of this disorder:
| Gene | Subtype | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|---|
| APP | ORPHA:100006ABeta amyloidosis, Dutch type | Disease-causing germline mutation(s) in | Assessed | HGNC:620 | ENSG00000142192 | 104760 | 21q21.3 | amyloid beta precursor protein | 24870607[PMID] |
| APP | ORPHA:324703ABetaL34V amyloidosis | Disease-causing germline mutation(s) in | Assessed | HGNC:620 | ENSG00000142192 | 104760 | 21q21.3 | amyloid beta precursor protein | 16178030[PMID] |
| APP | ORPHA:324708ABeta amyloidosis, Iowa type | Disease-causing germline mutation(s) in | Assessed | HGNC:620 | ENSG00000142192 | 104760 | 21q21.3 | amyloid beta precursor protein | 12557012[PMID] |
| APP | ORPHA:324713ABeta amyloidosis, Italian type | Disease-causing germline mutation(s) in | Assessed | HGNC:620 | ENSG00000142192 | 104760 | 21q21.3 | amyloid beta precursor protein | 20697050[PMID] |
| APP | ORPHA:324718ABetaA21G amyloidosis | Disease-causing germline mutation(s) in | Assessed | HGNC:620 | ENSG00000142192 | 104760 | 21q21.3 | amyloid beta precursor protein | 1303239[PMID] |
| APP | ORPHA:324723ABeta amyloidosis, Arctic type | Disease-causing germline mutation(s) in | Assessed | HGNC:620 | ENSG00000142192 | 104760 | 21q21.3 | amyloid beta precursor protein | 18413473[PMID] |
| CST3 | ORPHA:100008ACys amyloidosis | Disease-causing germline mutation(s) in | Assessed | HGNC:2475 | ENSG00000101439 | 604312 | 20p11.21 | cystatin C | 2541223[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 350 cases | Worldwide | Case(s) | 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.
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HPO phenotypes
13 annotations · validated 2024-04-12| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0011970 | Cerebral amyloid angiopathy | |
| Frequent (79-30%) | ||
| HP:0002120 | Cerebral cortical atrophy | |
| HP:0001342 | Cerebral hemorrhage | |
| HP:0012520 | Dilation of Virchow-Robin spaces | |
| HP:0002315 | Headache | |
| HP:0002344 | Progressive neurologic deterioration | |
| HP:0001250 | Seizure | |
| HP:0002138 | Subarachnoid hemorrhage | |
| Occasional (29-5%) | ||
| HP:0012229 | CSF pleocytosis | |
| HP:0025714 | Cerebral cortical microinfarct | |
| HP:0000726 | Dementia | |
| HP:0030890 | Hyperintensity of cerebral white matter on MRI | |
| HP:0002922 | Increased CSF protein concentration | |
Run the differential on the 1 obligate / very frequent terms
Annotation source: 37492402[PMID]_36565446[PMID]_38344467[PMID]_29120920[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/85458
- This record as JSON: /data/d/85458.json