ITM2B amyloidosis
Synonyms: Familial cerebral amyloid angiopathy · ITM2B-related amyloidosis · ITM2B-related cerebral amyloid angiopathy
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Adult
- Status
- active
A rare, neurodegenerative disease characterized by progressive dementia and ataxia, widespread cerebral amyloid angiopathy and parenchymal amyloid deposition. Two subtypes have been identified, ABri amyloidosis and ADan amyloidosis.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | ITM2B amyloidosis | Familial cerebral amyloid angiopathy · ITM2B-related amyloidosis · ITM2B-related cerebral amyloid angiopathy |
| fr | Amylose ITM2B | Amylose associée à ITM2B · Angiopathie amyloïde cérébrale familiale |
| de | ITM2B-Amyloidose | Amyloidangiopathie, zerebrale, familiäre Form · ITM2B-bedingte Amyloidose · Zerebrale Amyloidangiopathie, ITM2B-abhängige |
| es | Amiloidosis ITM2B | Angiopatía amiloide cerebral familiar |
| it | Amiloidosi ITM2B | Amiloidosi ITM2B-correlata · Angiopatia amiloide cerebrale ITM2B-correlata |
| nl | ITM2B-amyloïdose | Familiale cerebrale amyloïde angiopathie · ITM2B-gerelateerde amyloïdose · ITM2B-gerelateerde cerebrale amyloïde angiopathie |
| pt | Amiloidose ITM2B | |
| pl | Amyloidoza ITM2B | Amyloidoza zależna od ITM2B · Rodzinna mózgowa angiopatia amyloidowa · Mózgowa angiopatia amyloidowa zależna od ITM2B |
| cs | ITM2B amyloidóza | ITM2B-vázaná amyloidóza · ITM2B-vázaná cerebrální amyloidová angiopatie |
| uk | Амілоїдоз ITM2B | Сімейна церебральна амілоїдна ангіопатія · Амілоїдоз, повязаний з ІТМ2В · Церебральна амілоїдна ангіопатія, повязана з ІТМ2В |
| zh | ITM2B淀粉样变性 | ITM2B相关脑淀粉样变性血管病 |
| tr | ITM2B amiloidoz | ITM2B ilişkili amiloidoz · Ailesel serebral amiloid anjiyopati · ITM2B-ilişkili serebral amiloid anjiyopati |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 117300 | BTNT | validated | |
| OMIM | 176500 | BTNT | validated | |
| ICD-10 | E85.4+ | NTBT | attributed | validated |
| ICD-10 | I68.0* | NTBT | attributed | validated |
| ICD-11 | 5D00.2Y | NTBT | index | validated |
| MONDO | 0018591 | E | validated | |
| UMLS | C5568806 | 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 (4):
- ORPHA:69Amyloidosis
rare systemic and rheumatological diseases - ORPHA:276058Genetic neurodegenerative disease with dementia
rare genetic diseases - ORPHA:444116Hereditary amyloidosis
rare genetic diseases - ORPHA:98534Neurodegenerative disease with dementia
rare neurological diseases
Genes
0 direct · 2 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 |
|---|---|---|---|---|---|---|---|---|---|
| ITM2B | ORPHA:97345ABri amyloidosis | Disease-causing germline mutation(s) in | Assessed | HGNC:6174 | ENSG00000136156 | 603904 | 13q14.2 | integral membrane protein 2B | 10391242[PMID] |
| ITM2B | ORPHA:97346ADan amyloidosis | Disease-causing germline mutation(s) in | Assessed | HGNC:6174 | ENSG00000136156 | 603904 | 13q14.2 | integral membrane protein 2B | 10781099[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 2 families | Worldwide | Family(ies) | Validated | 24473189[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_24473189[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
8 annotations · validated 2024-04-15| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Frequent (79-30%) | ||
| HP:0000518 | Cataract | |
| HP:0011970 | Cerebral amyloid angiopathy | |
| HP:0000726 | Dementia | |
| HP:0000365 | Hearing impairment | |
| HP:0002352 | Leukoencephalopathy | |
| HP:0002185 | Neurofibrillary tangles | |
| HP:0002073 | Progressive cerebellar ataxia | |
| HP:0001285 | Spastic tetraparesis | |
Annotation source: 19601795[PMID]_22482447[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/439254
- This record as JSON: /data/d/439254.json