Fanconi syndrome

Summary
Synonym
  • Congenital Fanconi syndrome
  • De Toni-Fanconi syndrome
  • Fanconi-de Toni syndrome
  • Fanconi-de-Toni syndrome
  • Infantile nephropathic cystinosis
  • Lignac-Fanconi syndrome
  • adult Fanconi Anemia
  • adult Fanconi syndrome
  • deToni Fanconi syndrome
Definition
A renal tubular transport disease of the proximal renal tubes characterized by glucosuria, phosphaturia, generalized aminoaciduria and HCO3 wasting.
Super Class
renal tubular transport disease
External Links
Disease Ontology
DOID:1062
Mondo Disease Ontology
MeSH
UMLS
NCI Thesaurus
ORDO
OMIM
GARD
MGI genotype (from TogoID)
WikiPathways (from TogoID)
Related Genes
Displaying entries 11 - 12 of 12 in total
Gene ID Gene Symbol Description Source
8876 VNN1 vanin 1
10555 AGPAT2 1-acylglycerol-3-phosphate O-acyltransferase 2

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: August 19, 2024