familial visceral amyloidosis
MONDO:0007099Mondo
Findings
No curated finding names familial visceral amyloidosis yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Adult onset
HPO, annotations 2026-09-02
Features
46 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.
- Nephrotic syndromeHPOHP:0000100
- 3 of 3 reported patients
- Occasional (5% to 29% of cases)
- Renal amyloidosisHPOHP:0001917
- 3 of 3 reported patients
- NephropathyHPOHP:0000112
- Very frequent (80% to 99% of cases)
- ProteinuriaHPOHP:0000093
- Very frequent (80% to 99% of cases)
- Renal interstitial amyloid depositsHPOHP:0032613
- Very frequent (80% to 99% of cases)
- Abnormal urinary electrolyte concentrationHPOHP:0012591
- Frequent (30% to 79% of cases)
- Abnormality of the gastrointestinal tractHPOHP:0011024
- Frequent (30% to 79% of cases)
- Decreased glomerular filtration rateHPOHP:0012213
- Frequent (30% to 79% of cases)
- Elevated circulating creatinine concentrationHPOHP:0003259
- Frequent (30% to 79% of cases)
- HypertensionHPOHP:0000822
- Frequent (30% to 79% of cases)
- Renal insufficiencyHPOHP:0000083
- Frequent (30% to 79% of cases)
- Tubulointerstitial nephritisHPOHP:0001970
- Frequent (30% to 79% of cases)
Show the remaining 34
- Abdominal painHPOHP:0002027
- Occasional (5% to 29% of cases)
- Abnormal lymph node morphologyHPOHP:0002733
- Occasional (5% to 29% of cases)
- AnemiaHPOHP:0001903
- Occasional (5% to 29% of cases)
- Congestive heart failureHPOHP:0001635
- Occasional (5% to 29% of cases)
- Decreased circulating apolipoprotein A-I concentrationHPOHP:0031799
- Occasional (5% to 29% of cases)
- Decreased circulating HDL-C concentrationHPOHP:0003233
- Occasional (5% to 29% of cases)
Genes
4 genes
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.
- APOA1HGNC:600
- Strong · Ambry Genetics · Autosomal dominant · 2018
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2022
- FGAHGNC:3661
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2018
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Moderate · Ambry Genetics · Autosomal dominant · 2018
- LYZHGNC:6740
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2021
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Moderate · Ambry Genetics · Autosomal dominant · 2022
- B2MHGNC:914
Where it sits
- A kind of
Other names
10 names
Resolves to: familial visceral amyloidosis
- Also called
- amyloidosis, 3 or more typesamyloidosis, familial renalamyloidosis, Ostertag typeamyloidosis, renalfamilial amyloid nephropathyfamilial renal amyloidosisGerman type amyloidosishereditary amyloid nephropathyhereditary renal amyloidosisOstertag type amyloidosis