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Standards Ontologies Notations
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
Disease Ontology
DOID:1062
Mondo Disease Ontology
MeSH
UMLS
NCI Thesaurus
ORDO
OMIM
GARD
MGI genotype (from TogoID)
WikiPathways (from TogoID)
Related Genes
Displaying all 3 entries
Gene ID Gene Symbol Description Source
1497 CTNS cystinosin, lysosomal cystine transporter
4036 LRP2 LDL receptor related protein 2
6569 SLC34A1 solute carrier family 34 member 1
Displaying all 3 entries
Gene ID Gene Symbol Description Source
14725 Lrp2 low density lipoprotein receptor-related protein 2
20505 Slc34a1 solute carrier family 34 (sodium phosphate), member 1
83429 Ctns cystinosis, nephropathic
Displaying all 2 entries
Gene ID Gene Symbol Description Source
25548 Slc34a1 solute carrier family 34 member 1
29216 Lrp2 LDL receptor related protein 2
Displaying 1 entry
Gene ID Gene Symbol Description Source
42723 Ctns Cystinosin
Displaying 1 entry
Gene ID Gene Symbol Description Source
174308 ctns-1 Cystinosin homolog
Displaying 1 entry
Gene ID Gene Symbol Description Source
850438 ERS1 cystinosin-like protein ERS1
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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: December 9, 2024