ITM2B amyloidosis
diseaseOn this page
Also known as familial cerebral amyloid angiopathyITM2B-related amyloidosisITM2B-related cerebral amyloid angiopathy
Summary
ITM2B amyloidosis (MONDO:0018591) is a disease. A subtype of hereditary amyloidosis — broader associated-gene and molecular evidence is on the parent page (see Disease family below).
At a glance
- Prevalence: <1 / 1 000 000 (Worldwide) [Orphanet-validated]
- Phenotypes (HPO): 8
Clinical features
Epidemiology
Prevalence records
2 prevalence record(s), Orphanet:
| Type | Class | Value | Geography | Validation |
|---|---|---|---|---|
| Cases/families | 2 | Worldwide | Validated | |
| Point prevalence | <1 / 1 000 000 | Worldwide | Validated |
Signs & symptoms
Clinical features (HPO)
8 HPO clinical features (Orphanet curated; top 8 by frequency):
| HPO ID | Term | Frequency |
|---|---|---|
| HP:0000365 | Hearing impairment | Frequent (30-79%) |
| HP:0000518 | Cataract | Frequent (30-79%) |
| HP:0000726 | Dementia | Frequent (30-79%) |
| HP:0001285 | Spastic tetraparesis | Frequent (30-79%) |
| HP:0002073 | Progressive cerebellar ataxia | Frequent (30-79%) |
| HP:0002185 | Neurofibrillary tangles | Frequent (30-79%) |
| HP:0002352 | Leukoencephalopathy | Frequent (30-79%) |
| HP:0011970 | Cerebral amyloid angiopathy | Frequent (30-79%) |
Identifiers
Disease identifiers
| Field | Value |
|---|---|
| Canonical name | ITM2B amyloidosis |
| Mondo ID | MONDO:0018591 |
| Orphanet | 439254 |
| ICD-11 | 503091580 |
| SNOMED CT | 45639009 |
| UMLS | C0268393 |
| MedGen | 82800 |
| GARD | 0017741 |
| Is cancer (heuristic) | no |
Also known as: familial cerebral amyloid angiopathy · ITM2B-related amyloidosis · ITM2B-related cerebral amyloid angiopathy
Disease family
This is a subtype of hereditary amyloidosis. Genetic, therapeutic, and trial evidence is largely curated at the broader-term level — see the parent page for the associated-gene cohort and molecular evidence.
Classification path: disease › human disease › disease by etiologic mechanism › disease of genetic or genomic mechanism › hereditary disease › inborn errors of metabolism › hereditary amyloidosis › ITM2B amyloidosis
Related subtypes (8): cerebral amyloid angiopathy, Finnish type amyloidosis, familial visceral amyloidosis, familial amyloid neuropathy, familial primary localized cutaneous amyloidosis, variant ABeta2M amyloidosis, pulmonary amyloidosis, APP-related brain and vascular amyloidosis
Subtypes (2): ADan amyloidosis, ABri amyloidosis
Genetics & variants
GWAS landscape
No GWAS associations recorded — common-variant (GWAS) studies don’t cover this disease (typical for Mendelian / rare diseases). See the curated gene cohort and Mendelian overlap below.
Variant details and genetic-evidence tiers
No tiered GWAS variants or ClinVar records for this disease.
Genes & proteins
No associated-gene cohort resolved for this disease. Atlas builds the molecular and therapeutic sections — associated genes, protein families, druggability, pathways, interactions, and drug associations — by aggregating over a disease’s associated genes (resolved via GWAS / GenCC / ClinVar / CIViC), and none resolved here. This is expected for antibody-mediated, autoimmune, or otherwise non-gene-defined conditions; the curated evidence for this disease is its clinical features, GWAS susceptibility, and clinical trials (above).
Function
No pathway enrichment — requires an associated-gene cohort.
Therapeutics
No druggable-target or therapeutic data for this disease’s cohort.
Clinical trials & evidence
Clinical trials
Clinical trials: 0.
Related Atlas pages
No linked Atlas pages yet — the cross-entity mesh grows as the corpus expands.