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Features include always present findings: Cardiac amyloidosis, Stage 5 chronic kidney disease, Nephrotic syndrome, and Renal glomerular amyloid deposition; and common findings: Orthostatic hypotension, Cutis laxa, and Lattice corneal dystrophy. 16 total HPO annotations.
Organ System | Phenotype Count | Example Features |
|---|---|---|
Kidneys and urinary system | 4 | Stage 5 chronic kidney disease, Nephrotic syndrome, Reduced kidney function (renal insufficiency) |
Heart and blood vessels | 3 | Cardiac amyloidosis, Decreased heart rate variability, Heart muscle disease (cardiomyopathy) |
Eyes | 3 | Cataract, Lattice corneal dystrophy, Optic neuropathy |
Brain and nerves | 2 | Polyneuropathy, Optic neuropathy |
GSN encodes gelsolin (782 aa). Calcium-regulated, actin-modulating protein that binds to the plus (or barbed) ends of actin monomers or filaments, preventing monomer exchange (end-blocking or capping). Highest expression in Adipose Subcutaneous (2,344 TPM) and Nerve Tibial (1,919 TPM).
Finnish type amyloidosis is associated with mutations in the GSN gene on chromosome 9.
The GSN protein participates in Mechanoelectrical transduction (MET) channel transports cations into the cytosol of stereocilia of cochlear outer hair cell pathway.
GSN is classified as a druggable target (Druggable Genome category) with score 0.0.
Genetic testing for GSN is available. Testing is considered confirmatory for diagnosis.
Phenotype severity distribution: 4 always present features, 3 common features.
Estimated prevalence: <1 in 1,000,000 (VERY_RARE).
No clinical trials have been registered for Finnish type amyloidosis.
3 publications have been identified in PubMed for Finnish type amyloidosis. Kisho has analyzed 1 by research type. Research spans Review / Meta-Analysis (100%).
Bollati M (2026). [PMID: 41832348](https://pubmed.ncbi.nlm.nih.gov/41832348/). *Cellular and molecular life sciences : CMLS*. [Review / Meta-Analysis]
Data assembled from 6 of 12 sources · Last updated Sep 19, 2026, 6:54 PM UTC
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Online Mendelian Inheritance in Man
European rare disease database
Genetic and Rare Diseases Info Center
Common questions about Finnish type amyloidosis