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primary Fanconi syndrome (FRTS1) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

primary Fanconi syndrome

MONDO:0007600

Also known as:FRTS1Fanconi renotubular syndrome 1primary Fanconi renotubular syndrome

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Overview

A condition in which the kidneys do not absorb certain substances into the body. These substances, such as cysteine, fructose, galactose, or glycogen, are lost in the urine. Fanconi syndrome is thought to be caused by genetic and environmental factors, and it may be diagnosed at any age. Symptoms of Fanconi syndrome include increased urine production (which may cause dehydration), weakness, and abnormalities of the bones.

OnsetADULT, CHILDHOOD

Clinical Trials2 registered · 1 recruiting

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 very common findings: Renal phosphate wasting, Growth delay, Proximal renal tubular acidosis, and Generalized aminoaciduria and others; and common findings: Muscle weakness, Weight loss, Hypophosphatemia, and Bone pain and others. 29 total HPO annotations.

Organ System	Phenotype Count	Example Features
Kidneys and urinary system	8	Renal phosphate wasting, Proximal renal tubular acidosis, Low-molecular-weight proteinuria

Diagnosis

Biomarker and diagnostic research for primary Fanconi syndrome has been reported in the published literature.

Prognosis

Phenotype severity distribution: 11 very common features, 13 common features.

Estimated prevalence: Unknown (Unknown prevalence).

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.

2 clinical trials registered, 1 recruiting. Interventions under study include other interventions. Research is primarily sponsored by academic and government institutions.

36 publications have been identified in PubMed for primary Fanconi syndrome. Research spans Case Report / Case Series (31%), Review / Meta-Analysis (28%), and Epidemiology / Natural History (17%).

Research Type	Count	% of Total
Patient case studies	9	31%

Data assembled from 5 of 12 sources · Last updated Sep 18, 2026, 1:06 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:3337

GARD

Genetic and Rare Diseases Info Center

GARD:9118

Questions for Your Care Team

→Are any of the 2 active clinical trials a good fit for my situation?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

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primary Fanconi syndrome

Overview

Clinical Presentation

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

Orphanet

GARD

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications

primary Fanconi syndrome

Overview

Clinical Presentation

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

Orphanet

GARD

Subtypes

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications