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Fanconi renotubular syndrome 2

Disease Summary
Associated Targets (1)
Tchem

1


Mondo Description Any Fanconi syndrome in which the cause of the disease is a mutation in the SLC34A1 gene.
Uniprot Description A disease due to a generalized dysfunction of the proximal kidney tubule resulting in decreased solute and water reabsorption. Patients have polydipsia and polyuria with phosphaturia, glycosuria and aminoaciduria. They may develop hypophosphatemic rickets or osteomalacia, acidosis and a tendency toward dehydration. Some eventually develop renal insufficiency.
Mondo Term and Equivalent IDs
MONDO:0013247:  Fanconi renotubular syndrome 2
UMLS:C3150652: