congenital nephrotic syndrome, Finnish type
Findings
No curated finding names congenital nephrotic syndrome, Finnish type yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Congenital nephrotic syndrome, Finnish type is characterized by protein loss beginning during fetal life.
Definition from the Mondo Disease Ontology (MONDO:0009732), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Congenital onset
HPO, annotations 2026-09-02
Features
11 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.
- AnasarcaHPOHP:0012050
- 2 of 2 reported patients
- HypercholesterolemiaHPOHP:0003124
- 3 of 3 reported patients
- HypoalbuminemiaHPOHP:0003073
- 3 of 3 reported patients
- HypoproteinemiaHPOHP:0003075
- 3 of 3 reported patients
- Nephrotic syndromeHPOHP:0000100
- 3 of 3 reported patients
- Very frequent (80% to 99% of cases)
- ProteinuriaHPOHP:0000093
- 3 of 3 reported patients
- Very frequent (80% to 99% 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.
- NPHS1HGNC:7908
- Definitive · ClinGen · Autosomal recessive · 2022
- Definitive · Myriad Women's Health · Autosomal recessive · 2018
- Definitive · G2P · Autosomal recessive · 2015
- Definitive · Natera · Autosomal recessive · 2023
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2023
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
- A kind of
Other names
3 names
Resolves to: congenital nephrotic syndrome, Finnish type
- Also called
- congenital nephrotic syndrome - Finnish typeFinnish congenital nephrosisnephrotic syndrome - NPHS1 associated