variant ABeta2M amyloidosis
Findings
No curated finding names variant ABeta2M amyloidosis yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A rare form of amyloidosis characterized by accumulation and extensive visceral deposition of anamyloidogenic variant of beta 2 microglobulin leading to progressive gastrointestinal dysfunction, Sjögren syndrome and autonomic neuropathy.
Definition from the Mondo Disease Ontology (MONDO:0017810), read 2026-09-29. CC BY 4.0.
Features
24 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Chronic kidney diseaseHPOHP:0012622
- Frequent (30% to 79% of cases)
- Constrictive median neuropathyHPOHP:0012185
- Frequent (30% to 79% of cases)
- Renal amyloidosisHPOHP:0001917
- Frequent (30% to 79% of cases)
- Abnormal autonomic nervous system physiologyHPOHP:0012332
- Occasional (5% to 29% of cases)
- Abnormal salivary gland morphologyHPOHP:0010286
- Occasional (5% to 29% of cases)
- Abnormal skeletal muscle morphologyHPOHP:0011805
- Occasional (5% to 29% of cases)
- Abnormal vascular morphologyHPOHP:0025015
- Occasional (5% to 29% of cases)
- Abnormality of the tongueHPOHP:0000157
- Occasional (5% to 29% of cases)
- Amyloidosis of peripheral nervesHPOHP:0100292
- Occasional (5% to 29% of cases)
- Arthralgia of the hipHPOHP:0003365
- Occasional (5% to 29% of cases)
- Cardiac amyloidosisHPOHP:0030843
- Occasional (5% to 29% of cases)
- Cardiovascular calcificationHPOHP:0011915
- Occasional (5% to 29% of cases)
Show the remaining 12
- Cutaneous amyloidosisHPOHP:0012309
- Occasional (5% to 29% of cases)
- Gastrointestinal infarctionsHPOHP:0005244
- Occasional (5% to 29% of cases)
- Hepatic amyloidosisHPOHP:0012280
- Occasional (5% to 29% of cases)
- Intestinal perforationHPOHP:0031368
- Occasional (5% to 29% of cases)
- Knee painHPOHP:0030839
- Occasional (5% to 29% of cases)
- Multiple bony cystic lesionsHPOHP:0012065
- Occasional (5% to 29% of cases)
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- B2MHGNC:914
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Supportive · Orphanet · Autosomal dominant · 2021
Where it sits
Other names
1 name
Resolves to: variant ABeta2M amyloidosis
- Also called
- autosomal dominant beta2-microglobulinic amyloidosis