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Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young
Disease Summary
Associated Targets (1)
Tchem
1
Mondo Description Any Fanconi syndrome in which the cause of the disease is a mutation in the HNF4A gene.
Uniprot Description A disease characterized by Fanconi syndrome associated with a beta cell phenotype of neonatal hyperinsulinism with macrosomia and young onset diabetes. Fanconi syndrome is a proximal tubulopathy resulting in generalised aminoaciduria, low molecular weight proteinuria, glycosuria, hyperphosphaturia and hypouricemia. Some FRTS4 patients have nephrocalcinosis, renal impairment, hypercalciuria with relative hypocalcemia, and hypermagnesemia.
Mondo Term and Equivalent IDs
MONDO:0014458: Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young
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Counts of Target Development Levels for diseases known to be associated with this disease. If the disease has a valid DOID, targets known to be associated with all child diseases are aggregated. Click "Explore Associated Targets" to view more facets and details for the target list.
Description from Mondo Disease Ontology.
Description from UniProt.
DataSources which have contributed target associations to this disease, and the identifiers by which the disease is referenced.
OMIM:616026
UMLS:C4014962
MONDO:0014458
High level summary of knowledge for a disease, including descriptions and datasource references.