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Any Fanconi syndrome in which the cause of the disease is a mutation in the HNF4A gene.
Features include always present findings: Large for gestational age, Elevated circulating alkaline phosphatase concentration, Enlarged liver (hepatomegaly), and Glycosuria and others; and sometimes findings: Diabetes mellitus. 16 total HPO annotations.
Organ System | Phenotype Count | Example Features |
|---|---|---|
Kidneys and urinary system | 2 | Nephrocalcinosis, Protein in the urine (proteinuria) |
HNF4A encodes hepatocyte nuclear factor 4 alpha (474 aa). Transcriptional regulator which controls the expression of hepatic genes during the transition of endodermal cells to hepatic progenitor cells, facilitating the recruitment of RNA pol II to the promoters of target genes. Highest expression in Liver (55.4 TPM) and Colon Transverse (33.0 TPM).
Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young is associated with mutations in the HNF4A gene on chromosome 20.
The HNF4A protein participates in HNF4A (pancreas-specific), HNF1A-dependent synthesis of HNF4A, and Expression of HNF4A during nephron development pathways.
HNF4A is classified as a druggable target (Druggable Genome, Nuclear Hormone Receptor, and Transcription Factor categories) with score 1.6.
Genetic testing for HNF4A is available. Testing is considered confirmatory for diagnosis.
Phenotype severity distribution: 10 always present features.
No clinical trials have been registered for Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young.
7 publications have been identified in PubMed for Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young. Research spans Case Report / Case Series (43%), Review / Meta-Analysis (29%), and Basic Science / Preclinical (14%).
Garriga-Edo S (2026). [PMID: 41488815](https://pubmed.ncbi.nlm.nih.gov/41488815/). *Case Rep Nephrol Dial*. [Case Report / Case Series]
Bökenkamp A (2025). [PMID: 39794284](https://pubmed.ncbi.nlm.nih.gov/39794284/). *Nephrol Dial Transplant*. [Review / Meta-Analysis]
Haydock L (2025). [PMID: 40800210](https://pubmed.ncbi.nlm.nih.gov/40800210/). *Clin Kidney J*. [Case Report / Case Series]
Fujii Y (2025). [PMID: 39527373](https://pubmed.ncbi.nlm.nih.gov/39527373/). *CEN Case Rep*. [Case Report / Case Series]
Kaci A (2024). [PMID: 38433330](https://pubmed.ncbi.nlm.nih.gov/38433330/). *Hum Mol Genet*. [Basic Science / Preclinical]
Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 12:38 AM UTC
Online Mendelian Inheritance in Man
Genetic and Rare Diseases Info Center
Common questions about Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young
Lab test results |
2 |
Elevated circulating alkaline phosphatase concentration, Elevated circulating hepatic transaminase concentration |
Digestive system | 2 | Enlarged liver (hepatomegaly), Elevated circulating hepatic transaminase concentration |
Growth and development | 1 | Short stature |
Hormones | 1 | Diabetes mellitus |
Bones and joints | 1 | Rickets |
Metabolism | 1 | Metabolic acidosis |
Age of onset: newborn period.
Verma A (2024). [PMID: 37997707](https://pubmed.ncbi.nlm.nih.gov/37997707/). *Ophthalmic Genet*. [Review / Meta-Analysis]
Curtis D (2024). [PMID: 39666780](https://pubmed.ncbi.nlm.nih.gov/39666780/). *PLoS One*. [Epidemiology / Natural History]