Finnish type amyloidosis
MONDO:0007097Mondo
Findings
No curated finding names Finnish type 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
52 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.
- Cardiac amyloidosisHPOHP:0030843
- 3 of 3 reported patients
- Nephrotic syndromeHPOHP:0000100
- 2 of 2 reported patients
- Renal glomerular amyloid depositionHPOHP:0032614
- 2 of 2 reported patients
- Stage 5 chronic kidney diseaseHPOHP:0003774
- 2 of 2 reported patients
- Very rare (1% to 4% of cases)
- Abnormality of the eyeHPOHP:0000478
- Very frequent (80% to 99% of cases)
- Bilateral ptosisHPOHP:0001488
- Very frequent (80% to 99% of cases)
- Dermatological manifestations of systemic disordersHPOHP:0001005
- Very frequent (80% to 99% of cases)
- Dry skinHPOHP:0000958
- Very frequent (80% to 99% of cases)
- Keratoconjunctivitis siccaHPOHP:0001097
- Very frequent (80% to 99% of cases)
- Lattice corneal dystrophyHPOHP:0001149
- 5 of 7 reported patients
- Very frequent (80% to 99% of cases)
- Cutis laxaHPOHP:0000973
- 5 of 7 reported patients
- Frequent (30% to 79% of cases)
- Abnormality of the nervous systemHPOHP:0000707
- Frequent (30% to 79% of cases)
Show the remaining 40
- ArrhythmiaHPOHP:0011675
- Frequent (30% to 79% of cases)
- AtaxiaHPOHP:0001251
- Frequent (30% to 79% of cases)
- Bruising susceptibilityHPOHP:0000978
- Frequent (30% to 79% of cases)
- CataractHPOHP:0000518
- 2 of 7 reported patients
- Frequent (30% to 79% of cases)
- Constrictive median neuropathyHPOHP:0012185
- Frequent (30% to 79% of cases)
- Corneal ulcerationHPOHP:0012804
- Frequent (30% to 79% 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.
- GSNHGNC:4620
- Definitive · G2P · Autosomal recessive · 2017
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2021
- Strong · PanelApp Australia · Semidominant · 2025
- Moderate · Ambry Genetics · Autosomal dominant · 2018
- Supportive · Orphanet · Autosomal dominant · 2021
Where it sits
Other names
6 names
Resolves to: Finnish type amyloidosis
- Also called
- amyloidosis, MERETOJA typefamilial amyloid polyneuropathy type IVfamilial amyloidosis, Finnish typegelsolin amyloidosishereditary amyloidosis, Finnish typemeretoja syndrome