ABri amyloidosis
Synonyms: Familial dementia, British type
- Type
- Clinical subtype
- Group
- Subtype of disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Adult
- Status
- active
A rare, neurodegenerative disease characterized by progressive cognitive impairment, spastic tetraparesis, and cerebellar ataxia resulting from amyloid deposits in the brain. Spasticity with increased deep tendon reflexes and tone are early symptoms, muscular rigidity evolves later. Progressive mental deterioration usually starts with apathy and impaired memory with progression to complete disorientation.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | ABri amyloidosis | Familial dementia, British type |
| fr | Amylose ABri | Démence familiale type britannique |
| de | Abri-Amyloidose | Demenz, familiäre, Britischer Typ |
| es | Amiloidosis ABri | Demencia familiar tipo británica |
| it | Amiloidosi ABri | Demenza familiare, tipo britannico |
| nl | ABri-amyloïdose | Familiale dementie, Brits type |
| pt | Demência familiar, tipo britânica | |
| pl | Amyloidoza ABri | Demencja rodzinna, typ brytyjski |
| cs | ABri amyloidóza | Britská familiární demence |
| uk | Амілоїдоз ABri | Сімейна деменція, британський тип |
| zh | ABri淀粉样变 | 英国型家族性痴呆 |
| tr | ABri amiloidoz | Ailesel demans, İngiliz tipi |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 176500 | E | validated | |
| ICD-10 | E85.4+ | NTBT | attributed | validated |
| ICD-10 | I68.0* | NTBT | attributed | validated |
| ICD-11 | 5D00.2Y | NTBT | index | validated |
| MONDO | 0008306 | E | validated | |
| MeSH | C538208 | E | validated | |
| UMLS | C5190835 | E | validated | |
| GARD | 8344 | 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:439254ITM2B amyloidosis
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 |
|---|---|---|---|---|---|---|---|---|
| ITM2B | Disease-causing germline mutation(s) in | Assessed | HGNC:6174 | ENSG00000136156 | 603904 | 13q14.2 | integral membrane protein 2B | 10391242[PMID] |
Prevalence and incidence
0 recordsNo prevalence record in this release.
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/97345
- This record as JSON: /data/d/97345.json