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Features include always present findings: Nephrotic syndrome and Renal amyloidosis. 13 total HPO annotations.
Organ System | Phenotype Count | Example Features |
|---|---|---|
Kidneys and urinary system | 5 | Kidney disease (nephropathy), Nephrotic syndrome, Blood in the urine (hematuria) |
Digestive system | 3 | Cholestasis, Enlarged liver (hepatomegaly), Enlarged spleen (splenomegaly) |
Heart and blood vessels | 1 | Hypertension |
Brain and nerves | 1 | Peripheral neuropathy |
Skin | 1 | Skin rash |
Blood and immune system | 1 | Enlarged spleen (splenomegaly) |
FGA encodes fibrinogen alpha chain (866 aa). Cleaved by the protease thrombin to yield monomers which, together with fibrinogen beta (FGB) and fibrinogen gamma (FGG), polymerize to form an insoluble fibrin matrix. Highest expression in Liver (5,498 TPM) and Stomach (12.4 TPM).
Familial visceral amyloidosis is associated with mutations in the FGA gene on chromosome 4.
The FGA protein participates in FGAR + L-Glutamine + ATP + H2O = FGAM + L-Glutamate + ADP + Pi pathway.
FGA is classified as a druggable target (Cell Surface, Druggable Genome, External Side Of Plasma Membrane, and Fibrinogen categories) with score 3.2.
Genetic testing for FGA is available. Testing is considered confirmatory for diagnosis.
Biomarker and diagnostic research for familial visceral amyloidosis has been reported in the published literature.
Phenotype severity distribution: 2 always present features.
Estimated prevalence: Unknown (Unknown prevalence).
No clinical trials have been registered for familial visceral amyloidosis.
172 publications have been identified in PubMed for familial visceral amyloidosis. Research spans Epidemiology / Natural History (25%), Review / Meta-Analysis (24%), and Diagnostic / Biomarker (20%).
Research Type | Count | % of Total |
|---|---|---|
Disease patterns and progression | 43 | 25% |
Research summaries | 41 | 24% |
Testing and diagnosis research | 35 | 20% |
Clinical study results | 28 | 16% |
Patient case studies | 11 | 6% |
Laboratory research | 11 | 6% |
Other research | 2 | 1% |
New treatment approaches | 1 | 1% |
Jain SS (2026). [PMID: 41213043](https://pubmed.ncbi.nlm.nih.gov/41213043/). *JAMA cardiology*. [Clinical Trial Publication]
Spielvogel CP (2026). [PMID: 41317182](https://pubmed.ncbi.nlm.nih.gov/41317182/). *European journal of nuclear medicine and molecular imaging*. [Diagnostic / Biomarker]
Fontana M (2026). [PMID: 41212997](https://pubmed.ncbi.nlm.nih.gov/41212997/). *Circulation*. [Clinical Trial Publication]
Sheikh A (2026). [PMID: 41369616](https://pubmed.ncbi.nlm.nih.gov/41369616/). *Journal of the American College of Cardiology*. [Diagnostic / Biomarker]
Razvi Y (2026). [PMID: 41528278](https://pubmed.ncbi.nlm.nih.gov/41528278/). *JACC Heart Fail*. [Clinical Trial Publication]
Ahmad O (2026). [PMID: 42031432](https://pubmed.ncbi.nlm.nih.gov/42031432/). *Open Heart*. [Review / Meta-Analysis]
Ahmed F (2026). [PMID: 41618157](https://pubmed.ncbi.nlm.nih.gov/41618157/). *BMC Cardiovasc Disord*. [Epidemiology / Natural History]
Walser A (2026). [PMID: 41360739](https://pubmed.ncbi.nlm.nih.gov/41360739/). *European heart journal. Cardiovascular Imaging*. [Review / Meta-Analysis]
Ioannou A (2026). [PMID: 41674454](https://pubmed.ncbi.nlm.nih.gov/41674454/). *Circ Cardiovasc Imaging*. [Diagnostic / Biomarker]
Auer B (2026). [PMID: 41344854](https://pubmed.ncbi.nlm.nih.gov/41344854/). *J Nucl Med*. [Clinical Trial Publication]
Data assembled from 6 of 12 sources · Last updated Sep 19, 2026, 7:28 AM UTC
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