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congenital nephrotic syndrome, Finnish type - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

congenital nephrotic syndrome, Finnish type

MONDO:0009732

Also known as:Finnish congenital nephrosiscongenital nephrotic syndrome - Finnish typenephrotic syndrome - NPHS1 associated

Overview

Congenital nephrotic syndrome, Finnish type is characterized by protein loss beginning during fetal life.

GeneticsAutosomal recessive · NPHS1 (chr 19)

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

Features include always present findings: Nephrotic syndrome, Hypoproteinemia, Hypoalbuminemia, and Anasarca and others; and common findings: Stage 5 chronic kidney disease. 22 total HPO annotations.

Data assembled from 7 of 12 sources · Last updated Sep 19, 2026, 2:14 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:256300

Orphanet

European rare disease database

Orphanet:839

GARD

Genetic and Rare Diseases Info Center

GARD:1500

Questions for Your Care Team

→Should my partner and I meet with a genetic counselor to discuss carrier status and family planning?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

← Back to All Diseases

Organ System	Phenotype Count	Example Features
Kidneys and urinary system	7	Stage 5 chronic kidney disease, Nephrotic syndrome, Reduced kidney function (renal insufficiency)
Digestive system	2	Gastroesophageal reflux, Abdominal distention
Pregnancy and birth	2	Congenital nephrotic syndrome, Neonatal respiratory distress
Metabolism	1	High blood fat levels (hyperlipidemia)
Blood and immune system	1	Recurrent infections
Muscles	1	Renal tubular atrophy
Hormones	1	Hypothyroidism
Growth and development	1	Growth delay
Lungs and breathing	1	Neonatal respiratory distress

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

No clinical trials have been registered for congenital nephrotic syndrome, Finnish type.

26 publications have been identified in PubMed for congenital nephrotic syndrome, Finnish type. Research spans Case Report / Case Series (27%), Basic Science / Preclinical (27%), and Epidemiology / Natural History (19%).

Research Type	Count	% of Total
Patient case studies	7	27%
Laboratory research	7	27%
Disease patterns and progression	5	19%
Other research	2	8%
Testing and diagnosis research	2	8%
Clinical study results	2	8%
Research summaries	1	4%

Recent Publications

Chowdhury U (2026). [PMID: 41651545](https://pubmed.ncbi.nlm.nih.gov/41651545/). *BMJ Case Rep*. [Case Report / Case Series]
Annicchiarico Petruzzelli L (2026). [PMID: 41495530](https://pubmed.ncbi.nlm.nih.gov/41495530/). *CEN Case Rep*. [Case Report / Case Series]
Bhimma R (2026). [PMID: 41100440](https://pubmed.ncbi.nlm.nih.gov/41100440/). *Nephron*. [Diagnostic / Biomarker]
Zafar F (2025). [PMID: 40761226](https://pubmed.ncbi.nlm.nih.gov/40761226/). *AME Case Rep*. [Case Report / Case Series]
Schneider R (2025). [PMID: 39003671](https://pubmed.ncbi.nlm.nih.gov/39003671/). *J Nephrol*. [Basic Science / Preclinical]
Tsuhako H (2025). [PMID: 41241432](https://pubmed.ncbi.nlm.nih.gov/41241432/). *J Pharmacol Sci*. [Diagnostic / Biomarker]
Zhang W (2025). [PMID: 41163923](https://pubmed.ncbi.nlm.nih.gov/41163923/). *Front Pediatr*. [Case Report / Case Series]
Simons M (2025). [PMID: 40543925](https://pubmed.ncbi.nlm.nih.gov/40543925/). *Kidney Int*. [Basic Science / Preclinical]
Wolff JM (2025). [PMID: 40316169](https://pubmed.ncbi.nlm.nih.gov/40316169/). *Kidney Int*. [Basic Science / Preclinical]
Oldenmark BOV (2025). [PMID: 40669863](https://pubmed.ncbi.nlm.nih.gov/40669863/). *Neuropediatrics*. [Case Report / Case Series]

Kisho

congenital nephrotic syndrome, Finnish type

Overview

Clinical Presentation

Medical References

External Resources

OMIM

Orphanet

GARD

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

congenital nephrotic syndrome, Finnish type

Overview

Clinical Presentation

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications