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Any Fanconi syndrome in which the cause of the disease is a mutation in the SLC34A1 gene.
Features include always present findings: Bone pain, Short stature, Reduced kidney function (renal insufficiency), and Glycosuria and others. 17 total HPO annotations.
Organ System | Phenotype Count | Example Features |
|---|---|---|
Bones and joints | 5 | Bone pain, Mild bone density loss (osteopenia), Rickets |
SLC34A1 function has not been fully characterized.
Genetic testing for SLC34A1 is available. Testing is considered disputed for diagnosis.
Biomarker and diagnostic research for Fanconi renotubular syndrome 2 has been reported in the published literature.
Phenotype severity distribution: 16 always present features.
1 clinical trial registered, 1 recruiting. Interventions under study include other interventions. Research is primarily sponsored by academic and government institutions.
111 publications have been identified in PubMed for Fanconi renotubular syndrome 2. Research spans Case Report / Case Series (35%), Epidemiology / Natural History (22%), and Review / Meta-Analysis (16%).
Research Type | Count | % of Total |
|---|---|---|
Patient case studies | 39 | 35% |
Data assembled from 7 of 12 sources · Last updated Sep 19, 2026, 1:14 PM UTC
Online Mendelian Inheritance in Man
Genetic and Rare Diseases Info Center
Common questions about Fanconi renotubular syndrome 2
5 |
Reduced kidney function (renal insufficiency), Protein in the urine (proteinuria), Decreased glomerular filtration rate |
Growth and development | 1 | Short stature |
Lab test results | 1 | Elevated circulating parathyroid hormone level |
Muscles | 1 | Renal phosphate wasting |
Age of onset: adulthood, childhood.
Disease patterns and progression |
24 |
22% |
Research summaries | 18 | 16% |
Laboratory research | 18 | 16% |
Testing and diagnosis research | 8 | 7% |
Other research | 2 | 2% |
Clinical study results | 1 | 1% |
New treatment approaches | 1 | 1% |
Shreenath AP (2026). [PMID: 30020636](https://pubmed.ncbi.nlm.nih.gov/30020636/). *Unknown Journal*. [Epidemiology / Natural History]
Deb R (2026). [PMID: 41659933](https://pubmed.ncbi.nlm.nih.gov/41659933/). *Clin Case Rep*. [Epidemiology / Natural History]
Kanda J (2026). [PMID: 41592701](https://pubmed.ncbi.nlm.nih.gov/41592701/). *Transplant Cell Ther*. [Epidemiology / Natural History]
Tanzarella E (2026). [PMID: 42143751](https://pubmed.ncbi.nlm.nih.gov/42143751/). *G Ital Nefrol*. [Review / Meta-Analysis]
Pegoraro F (2026). [PMID: 41881068](https://pubmed.ncbi.nlm.nih.gov/41881068/). *JCO Precis Oncol*. [Epidemiology / Natural History]
Yamazawa K (2026). [PMID: 41856558](https://pubmed.ncbi.nlm.nih.gov/41856558/). *J Med Genet*. [Epidemiology / Natural History]
Lu L (2026). [PMID: 42204638](https://pubmed.ncbi.nlm.nih.gov/42204638/). *Cancer Med*. [Epidemiology / Natural History]
Martin CA (2026). [PMID: 42011088](https://pubmed.ncbi.nlm.nih.gov/42011088/). *Cancer Med*. [Epidemiology / Natural History]
Zhang YH (2026). [PMID: 41856608](https://pubmed.ncbi.nlm.nih.gov/41856608/). *Zhonghua Yi Xue Za Zhi*. [Basic Science / Preclinical]
Yoshida R (2026). [PMID: 41623299](https://pubmed.ncbi.nlm.nih.gov/41623299/). *Kidney Med*. [Case Report / Case Series]