ABetaL34V amyloidosis
Synonyms: ABeta amyloidosis, Piedmont type · ABetaL34V-related amyloidosis · HCHWA, Piedmont type · Hereditary cerebral hemorrhage with amyloidosis, Piedmont 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 between 50-70 years of age, recurrent lobar intracerebral hemorrhages and cognitive decline. 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 | ABetaL34V amyloidosis | ABeta amyloidosis, Piedmont type · ABetaL34V-related amyloidosis · HCHWA, Piedmont type · Hereditary cerebral hemorrhage with amyloidosis, Piedmont type |
| fr | Amylose ABetaL34V | Amylose ABeta, type Piedmont · Amylose associée à ABetaL34V · HCHWA type piémontais · Hémorragie cérébrale héréditaire avec amylose type piémontais |
| de | ABetaL34V-Amyloidose | ABeta-Amyloidose Typ Piedmont · Amyloidose, ABetaL34V-assoziierte · Beta-Amyloidose Typ Piedmont · HCHWA Typ Piedmont · Hereditäre zerebrale Hämorrhagie mit Amyloidose vom Typ Piedmont |
| es | Amiloidosis ABetaL34V | Amiloidosis ABeta tipo piamontés · Amiloidosis asociada a ABetaL34V · HCHWA tipo piamontés · Hemorragia cerebral hereditaria con amiloidosis tipo piamontés |
| it | Amiloidosi ABetaL34V | Amiloidosi ABetaL34V-correlata · Amiloidosi beta, tipo piemontese · Emorraggia cerebrale con amiloidosi, tipo piemontese · HCHWA, tipo piemontese |
| nl | ABètaL34V-amyloïdose | ABèta-amyloïdose, Piedmont-type · ABètaL34V-gerelateerde amyloïdose · Erfelijke cerebrale hemorragie met amyloïdose, Piedmont-type · HCHWA, Piedmont-type |
| pt | Hemorragia cerebral hereditária com amiloidose, tipo Piedmont | |
| pl | Amyloidoza ABetaL34V | Amyloidoza zależna od ABetaL34V · Beta amyloidoza, typ piemoncki · Dziedziczny krwotok mózgowy z amyloidozą, typ piemoncki · HCHWA, typ piemoncki |
| cs | ABetaL34V amyloidóza | ABetaL34V-vázaná amyloidóza · Beta amyloidóza, piedmontský typ · HCHWA, piedmontský typ · Hereditární cerebrální krvácení s amyloidózou, piedmontský typ |
| uk | Амілоїдоз ABetaL34V | Абета-амілоїдоз, пємонтський тип · Амілоїдоз, повязаний з ABetaL34V · HCHWA, пємонтський тип · Спадковий крововилив у мозок з амілоїдозом, пємонтський тип |
| zh | AβL34V淀粉样变性 | Piedmont型遗传性脑出血伴淀粉样变性 |
| tr | ABetaL34V amiloidoz | HCHWA, Piedmont tipi · ABetaL34V-ilişkili amiloidoz · ABeta amiloidoz, Piedmont tipi · Amiloidozlu kalıtsal beyin kanaması, Piedmont 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 | 0017945 | E | validated | |
| UMLS | C5679882 | 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 | 16178030[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 1 families | Worldwide | Family(ies) | Validated | 16178030[PMID]_19225789[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_16178030[PMID]_19225789[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
11 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001342 | Cerebral hemorrhage | |
| HP:0001259 | Coma | |
| HP:0000726 | Dementia | |
| HP:0001263 | Global developmental delay | |
| HP:0001249 | Intellectual disability | |
| HP:0003401 | Paresthesia | |
| HP:0003474 | Somatic sensory dysfunction | |
| HP:0001297 | Stroke | |
| Frequent (79-30%) | ||
| HP:0100659 | Abnormality of the cerebral vasculature | |
| HP:0000708 | Atypical behavior | |
| HP:0002076 | Migraine | |
Run the differential on the 8 obligate / very frequent terms
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/324703
- This record as JSON: /data/d/324703.json