Wild type ABeta2M amyloidosis
Synonyms: ABeta2Mwt amyloidosis · Dialysis-related amyloidosis · Dialysis-related arthropathy · Wild type ABeta2-microglobulinic amyloidosis
- Type
- Disease
- Group
- Disorder
- Inheritance
- Not applicable
- Age of onset
- Adult
- Status
- active
A form of amyloidosis affecting patients with chronic kidney disease (CKD), on long term dialysis characterized by the accumulation of amyloid fibrils consisting of beta 2 microglobulin (β2M) deposits in the musculoskeletal system leading to carpal tunnel syndrome (CTS), chronic arthropathy, cystic bone lesions, destructive osteoarthropathy, and pathologic fractures.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Wild type ABeta2M amyloidosis | ABeta2Mwt amyloidosis · Dialysis-related amyloidosis · Dialysis-related arthropathy · Wild type ABeta2-microglobulinic amyloidosis |
| fr | Amylose ABeta2M wild type | Amylose ABeta2Mwt · Amylose liée à la dialyse · Amylose à bêta-2 microglobuline wild type · Arthropathie liée à la dialyse |
| de | ABeta2M-Amyloidose, Wild-Typ | ABeta2Mwt-Amyloidose · Amyloidose, Dialyse-bedingte · Beta2-Mikroglobulin-Amyloidose · Dialyse-bedingte Arthropathie |
| es | Amiloidosis ABeta2M forma nativa | Amiloidosis ABeta2M microglobulínica tipo salvaje · Amiloidosis ABeta2Mwt · Amiloidosis asociada a diálisis |
| it | Amiloidosi ABeta2M wild-type | Amiloidosi ABeta2Mwt · Amiloidosi dialisi-correlata · Artropatia dialisi-correlata · Amiloidosi ABeta2-microglobulinica wild-type |
| nl | Wild-type ABèta2M-amyloïdose | ABeta2Mwt-amyloïdose · Dialysegerelateerde amyloïdose · Dialysegerelateerde artropathie · Wild-type ABèta2-microglobuline-amyloïdose |
| pt | Amiloidose ABeta2M tipo selvagem | Amiloidose ABeta2-microglobulínica tipo selvagem · Amiloidose ABeta2Mwt · Amiloidose diálise-relacionada · Artropatia diálise-relacionada |
| pl | Dziki typ amyloidozy ABeta2M | Amyloidoza ABeta2Mwt · Amyloidoza dializacyjna · Artropatia związana z dializami · Dziki typ amyloidozy ABeta2-mikroglobulinowej |
| cs | Divoký typ ABeta2M amyloidózy | ABeta2Mwt amyloidóza · Amyloidóza asociovaná s dialýzou · Artropatie asociovaná s dialýzou · Divoký typ ABeta2-mikroglobulární amyloidózy |
| uk | Амілоїдоз дикого типу ABeta2M | Амілоїдоз ABeta2Mwt · Амілоїдоз, повязаний з діалізом · Артропатія, повязана з діалізом · Дикий тип ABeta2-мікроглобулінового амілоїдозу |
| zh | 野生型β2微球蛋白型淀粉样变性 | 野生型β2微球蛋白型淀粉样变性 |
| tr | Yabani tip ABeta2M amiloidoz | ABeta2Mwt amiloidoz · Diyaliz-ilişkili amiloidoz · Diyaliz-ilişkili artropati · Yabanıl tip ABeta2-mikroglobulinik amiloidoz |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | E85.3 | NTBT | inclusion | validated |
| ICD-11 | 5D00.3 | NTBT | index | validated |
| MONDO | 0019440 | E | validated | |
| UMLS | C0268405 | 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:439246ABeta2M amyloidosis
rare systemic and rheumatological diseases
No children.
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | 1-9 / 100 000 | 4.5 / 100 000 | Europe | Value and class | Validated | European Medicines Agency 2012[OTHER] |
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
27 annotations · validated 2024-04-09| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001369 | Arthritis | |
| HP:0030833 | Neck pain | |
| HP:0030834 | Shoulder pain | |
| Frequent (79-30%) | ||
| HP:0001227 | Abnormality of the thenar eminence | |
| HP:0003447 | Axonal loss | |
| HP:0012062 | Bone cyst | |
| HP:0012185 | Constrictive median neuropathy | |
| HP:0007078 | Decreased amplitude of sensory action potentials | |
| HP:0000762 | Decreased nerve conduction velocity | |
| HP:0012534 | Dysesthesia | |
| HP:0012531 | Pain | |
| HP:0003401 | Paresthesia | |
| Occasional (29-5%) | ||
| HP:0005108 | Abnormal intervertebral disk morphology | |
| HP:0002242 | Abnormal intestine morphology | |
| HP:0005106 | Abnormality of the vertebral endplates | |
| HP:0003040 | Arthropathy | |
| HP:0002015 | Dysphagia | |
| HP:0002239 | Gastrointestinal hemorrhage | |
| HP:0000158 | Macroglossia | |
| Very rare (<4-1%) | ||
| HP:0100261 | Abnormal tendon morphology | |
| HP:0003043 | Abnormality of the shoulder | |
| HP:0011675 | Arrhythmia | |
| HP:0030843 | Cardiac amyloidosis | |
| HP:0001635 | Congestive heart failure | |
| HP:0004389 | Intestinal pseudo-obstruction | |
| HP:0002273 | Tetraparesis | |
| HP:0002445 | Tetraplegia | |
Run the differential on the 3 obligate / very frequent terms
Annotation source: 27994478[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/85446
- This record as JSON: /data/d/85446.json