ONTOLOGY REPORT - ANNOTATIONS


Term:Fanconi syndrome
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Accession:DOID:1062 term browser browse the term
Definition:A hereditary or acquired form of generalized dysfunction of the PROXIMAL KIDNEY TUBULE without primary involvement of the KIDNEY GLOMERULUS. It is usually characterized by the tubular wasting of nutrients and salts (GLUCOSE; AMINO ACIDS; PHOSPHATES; and BICARBONATES) resulting in HYPOKALEMIA; ACIDOSIS; HYPERCALCIURIA; and PROTEINURIA.
Synonyms:exact_synonym: De Toni-Debre-Fanconi Syndrome;   FBS;   FRTS;   Fanconi Bickel Syndrome;   Fanconi Renotubular Syndrome;   Fanconi Syndrome with Intestinal Malabsorption and Galactose Intolerance;   Fanconi Syndrome without Cystinosis;   Fanconi Type Glycogenosis;   Fanconi-Bickel Syndromes;   Fanconi-de-Toni syndrome;   Hepatic Glycogenosis with Amino Aciduria and Glucosuria;   Hepatic Glycogenosis with Fanconi Nephropathy;   Hepatorenal Glycogenosis with Renal Fanconi Syndrome;   Idiopathic De Toni-Debre-Fanconi Syndrome;   Lignac Fanconi Syndrome;   Luder Sheldon Syndrome;   Neonatal De Toni-Debre-Fanconi Syndrome;   Primary Toni-Debre-Fanconi Syndrome;   Proximal Renal Tubular Dysfunction;   Pseudo-Phlorizin Diabete;   RFS;   Toni-Debre-Fanconi syndrome;   adult Fanconi anemia;   adult Fanconi syndrome;   congenital Fanconi syndrome;   deToni Fanconi syndrome;   pseudo phlorizin diabetes;   renal Fanconi syndrome
 related_synonym: glycogen storage disease XI
 primary_id: MESH:D005198
 alt_id: OMIM:227810;   RDO:0000093
 xref: GARD:9120;   OMIM:PS134600;   ORDO:3337
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Fanconi syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ehhadh enoyl-CoA hydratase and 3-hydroxyacyl CoA dehydrogenase JBrowse link 11 82,945,104 82,978,364 RGD:11554173
G Gpx3 glutathione peroxidase 3 JBrowse link 10 40,247,436 40,255,423 RGD:11554173
G Ldha lactate dehydrogenase A JBrowse link 1 102,900,288 102,909,713 RGD:8554872
G Lrp2 LDL receptor related protein 2 JBrowse link 3 55,665,153 55,822,484 RGD:13592920
G Slc2a2 solute carrier family 2 member 2 JBrowse link 2 114,413,427 114,445,418 RGD:7240710
RGD:8554872
RGD:11554173
G Slc34a1 solute carrier family 34 member 1 JBrowse link 17 9,747,766 9,762,739 RGD:7242923
RGD:11554173
Fanconi Renotubular Syndrome 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ehhadh enoyl-CoA hydratase and 3-hydroxyacyl CoA dehydrogenase JBrowse link 11 82,945,104 82,978,364 RGD:8554872
Fanconi Renotubular Syndrome 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Slc34a1 solute carrier family 34 member 1 JBrowse link 17 9,747,766 9,762,739 RGD:7240710
RGD:8554872
Fanconi Renotubular Syndrome 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ehhadh enoyl-CoA hydratase and 3-hydroxyacyl CoA dehydrogenase JBrowse link 11 82,945,104 82,978,364 RGD:7240710
RGD:8554872
Fanconi Renotubular Syndrome 4 with Maturity-Onset Diabetes of the Young term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Hnf4a hepatocyte nuclear factor 4, alpha JBrowse link 3 159,902,441 159,965,003 RGD:7240710
RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14875
    syndrome 4220
      Fanconi syndrome 7
        Deal Barratt Dillon Syndrome 0
        Fanconi Renotubular Syndrome 1 1
        Fanconi Renotubular Syndrome 2 1
        Fanconi Renotubular Syndrome 3 1
        Fanconi Renotubular Syndrome 4 with Maturity-Onset Diabetes of the Young 1
        Preeyasombat Varavithya Syndrome 0
        Rod-Cone Dystrophy, Sensorineural Deafness, and Fanconi-Type Renal Dysfunction 0
Path 2
Term Annotations click to browse term
  disease 14875
    disease of anatomical entity 14051
      Urogenital Diseases 3874
        urinary system disease 2009
          kidney disease 1805
            renal tubular transport disease 94
              Fanconi syndrome 7
                Deal Barratt Dillon Syndrome 0
                Fanconi Renotubular Syndrome 1 1
                Fanconi Renotubular Syndrome 2 1
                Fanconi Renotubular Syndrome 3 1
                Fanconi Renotubular Syndrome 4 with Maturity-Onset Diabetes of the Young 1
                Preeyasombat Varavithya Syndrome 0
                Rod-Cone Dystrophy, Sensorineural Deafness, and Fanconi-Type Renal Dysfunction 0
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.