ORPHA:314652
Variant ABeta2M amyloidosis
Synonyms: Autosomal dominant beta2-microglobulinic amyloidosis
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Adult
- Status
- active
A rare form of amyloidosis characterized by accumulation and extensive visceral deposition of an amyloidogenic variant of beta 2 microglobulin leading to progressive gastrointestinal dysfunction, Sjögren syndrome and autonomic neuropathy.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Variant ABeta2M amyloidosis | Autosomal dominant beta2-microglobulinic amyloidosis |
| fr | Amylose ABeta2M variante | Amylose à bêta-2 microglobuline autosomique dominante |
| de | ABeta2M-Amyloidose, variante | Beta-2-Mikroglobulin-Amyloidose, autosomal-dominante |
| es | Amiloidosis variante ABeta2M | Amiloidosis beta2-microglobulínica autosómica dominante |
| it | Amiloidosi variante ABeta2M | Amiloidosi beta2-microglobulinica autosomica dominante |
| nl | Variant ABèta2M-amyloïdose | Autosomaal dominante bèta2-microglobuline-amyloïdose |
| pt | Amiloidose variante ABeta2M | Amiloidose beta2-microglobulinica autossómica dominante |
| pl | Wariant amyloidozy ABeta2M | Autosomalna dominująca amyloidoza z beta2-microglobuliną |
| cs | Varianta ABeta2M amyloidózy | Varianta amyloidózy chronicky dialyzovaných · Autozomálně dominantní amyloidóza s beta2-mikroglobulinem |
| uk | Амілоїдоз, варіант ABeta2M | Аутосомно-домінантний бета2-мікроглобуліновий амілоїдоз |
| zh | Aβ2M变异的淀粉样变 | 常染色体显性β2-微球蛋白淀粉样沉积 |
| tr | Varyant ABeta2M amiloidoz | Otozomal dominant beta2-mikroglobulinik amiloidoz |
Definition in:
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 105200 | NTBT | validated | |
| ICD-10 | E85.1 | NTBT | attributed | validated |
| ICD-11 | 5D00.3 | NTBT | index | validated |
| MONDO | 0017810 | E | validated | |
| UMLS | C4302669 | 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 (2):
- ORPHA:439246ABeta2M amyloidosis
rare systemic and rheumatological diseases - ORPHA:444116Hereditary amyloidosis
rare genetic diseases
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| B2M | Disease-causing germline mutation(s) in | Assessed | HGNC:914 | ENSG00000166710 | 109700 | 15q21.1 | beta-2-microglobulin | 22693999[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 5 cases | Worldwide | Case(s) | Validated | 22693999[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_22693999[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.
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HPO phenotypes
24 annotations · validated 2021-03-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Frequent (79-30%) | ||
| HP:0012622 | Chronic kidney disease | |
| HP:0012185 | Constrictive median neuropathy | |
| HP:0001917 | Renal amyloidosis | |
| Occasional (29-5%) | ||
| HP:0012332 | Abnormal autonomic nervous system physiology | |
| HP:0010286 | Abnormal salivary gland morphology | |
| HP:0011805 | Abnormal skeletal muscle morphology | |
| HP:0025015 | Abnormal vascular morphology | |
| HP:0000157 | Abnormality of the tongue | |
| HP:0100292 | Amyloidosis of peripheral nerves | |
| HP:0003365 | Arthralgia of the hip | |
| HP:0030843 | Cardiac amyloidosis | |
| HP:0011915 | Cardiovascular calcification | |
| HP:0012309 | Cutaneous amyloidosis | |
| HP:0005244 | Gastrointestinal infarctions | |
| HP:0012280 | Hepatic amyloidosis | |
| HP:0031368 | Intestinal perforation | |
| HP:0030839 | Knee pain | |
| HP:0012065 | Multiple bony cystic lesions | |
| HP:0002756 | Pathologic fracture | |
| HP:0012664 | Reduced left ventricular ejection fraction | |
| HP:0007141 | Sensorimotor neuropathy | |
| HP:0030834 | Shoulder pain | |
| HP:0002176 | Spinal cord compression | |
| HP:0030836 | Wrist pain | |
Annotation source: 33112446[PMID]_32392555[PMID]_26333542[PMID]_31226597[PMID]_25750126[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/314652
- This record as JSON: /data/d/314652.json