ORPHA:97346
ADan amyloidosis
Synonyms: Familial dementia, Danish type
- Type
- Clinical subtype
- Group
- Subtype of disorder
- Inheritance
- Autosomal dominant
- Status
- active
A rare, neurodegenerative disease characterized by progressive cataracts, hearing loss, cerebellar ataxia, paranoid psychosis and dementia. Neuropathological features are diffuse atrophy of all parts of the brain, chronic diffuse encephalopathy and the presence of extremely thin and almost completely demyelinated cranial nerves.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | ADan amyloidosis | Familial dementia, Danish type |
| fr | Amylose ADan | Démence familiale type danoise |
| de | ADan-Amyloidose | Demenz, familiäre, Dänischer Typ |
| es | Amiloidosis ADan | Demencia familiar tipo danesa |
| it | Amiloidosi ADan | Demenza familiare, tipo danese |
| nl | ADan-amyloïdose | Familiale dementie, Deens type |
| pt | Demência familiar, tipo dinamarquês | |
| pl | Amyloidoza ADan | Rodzinna demencja, typ duński |
| cs | ADan amyloidóza | Dánská familiární demence |
| uk | Амілоїдоз Adan | Сімейна деменція датського типу |
| zh | ADan淀粉样变 | 丹麦型家族性痴呆 |
| tr | AD amiloidoz | Ailesel demans, Danimarka tipi |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 117300 | E | validated | |
| ICD-10 | E85.4+ | NTBT | attributed | validated |
| ICD-10 | I68.0* | NTBT | attributed | validated |
| ICD-11 | 5D00.2Y | NTBT | index | validated |
| MONDO | 0007297 | E | validated | |
| MeSH | C538209 | E | validated | |
| UMLS | C1861735 | E | validated | |
| GARD | 9169 | 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 (1):
- ORPHA:439254ITM2B amyloidosis
rare genetic diseases; rare neurological diseases; rare systemic and rheumatological diseases
No children.
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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 | 10781099[PMID] |
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Prevalence and incidence
0 recordsNo prevalence record in this release.
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HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/97346
- This record as JSON: /data/d/97346.json