Human Phenotype Ontology 
Grandparent Node:
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Abnormal renal physiology (HP:0012211)help
Parent Node:
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Abnormal renal tubular resorption (HP:0011038)help
..Starting node
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Renal Fanconi syndrome (HP:0001994)help
Term ID: 1994
Name: Renal Fanconi syndrome
Synonym: De toni-fanconi-debre syndrome; Renal tubular fanconi syndrome
Definition: An inability of the tubules in the kidney to reabsorb small molecules, causing increased urinary loss of electrolytes (sodium, potassium, bicarbonate), minerals, glucose, amino acids, and water.
Comments:
Reference: HP:0001994
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandImpaired renal concentrating ability (HP:0004727) help
..expandImpaired renal ltubular reabsorption of chloride (HP:0005579) help
..expandIncreased renal tubular phosphate reabsorption (HP:0005571) help
InputHPO IDHPO termDistanceGeneGene id entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0001994HP:0001994Renal Fanconi syndrome0BCS1L CL E G H6171020ORPHA:53693GRACILE syndromeHP:0040281 - Very frequent72
HP:0001994HP:0001994Renal Fanconi syndrome0CLCNKB CL E G H11882027ORPHA:358Gitelman syndromeHP:0040284 - Very rare27
HP:0001994HP:0001994Renal Fanconi syndrome0COA8 CL E G H8433420492ORPHA:436271Non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathyHP:0040282 - Frequent
HP:0001994HP:0001994Renal Fanconi syndrome0CTNS CL E G H14972518OMIM:219800Cystinosis, nephropathic178
HP:0001994HP:0001994Renal Fanconi syndrome0CTNS CL E G H14972518ORPHA:411629Infantile nephropathic cystinosisHP:0040281 - Very frequent178
HP:0001994HP:0001994Renal Fanconi syndrome0CTNS CL E G H14972518ORPHA:411634Juvenile nephropathic cystinosisHP:0040282 - Frequent178
HP:0001994HP:0001994Renal Fanconi syndrome0FAH CL E G H21843579OMIM:276700Tyrosinemia, type I.107
HP:0001994HP:0001994Renal Fanconi syndrome0HNF1B CL E G H692811630ORPHA:93111HNF1B-related autosomal dominant tubulointerstitial kidney diseaseHP:0040283 - Occasional90
HP:0001994HP:0001994Renal Fanconi syndrome0HNF4A CL E G H31725024ORPHA:263455Hyperinsulinism due to HNF4A deficiencyHP:0040282 - Frequent138
HP:0001994HP:0001994Renal Fanconi syndrome0OCRL CL E G H49528108OMIM:309000Lowe syndrome.88
HP:0001994HP:0001994Renal Fanconi syndrome0PIGA CL E G H52778957ORPHA:447Paroxysmal nocturnal hemoglobinuriaHP:0040284 - Very rare46
HP:0001994HP:0001994Renal Fanconi syndrome0POLRMT CL E G H54429200OMIM:619743COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 55; COXPD551
HP:0001994HP:0001994Renal Fanconi syndrome0RRM2B CL E G H5048417296OMIM:268315ROD-CONE DYSTROPHY, SENSORINEURAL DEAFNESS, AND FANCONI-TYPE RENAL DYSFUNCTION125
HP:0001994HP:0001994Renal Fanconi syndrome0SLC12A3 CL E G H655910912ORPHA:358Gitelman syndromeHP:0040284 - Very rare145
HP:0001994HP:0001994Renal Fanconi syndrome0SURF1 CL E G H683411474OMIM:220110Mitochondrial complex IV deficiency.73
HP:0001994HP:0001994Renal Fanconi syndrome0TRNN CL E G H45707493OMIM:220110Mitochondrial complex IV deficiency.
HP:0001994HP:0001994Renal Fanconi syndrome0TRNS1 CL E G H45747497OMIM:220110Mitochondrial complex IV deficiency.


Genes (15) :BCS1L CLCNKB COA8 CTNS FAH HNF1B HNF4A OCRL PIGA POLRMT RRM2B SLC12A3 SURF1 TRNN TRNS1

Diseases (14) :ORPHA:53693 ORPHA:358 ORPHA:436271 OMIM:219800 ORPHA:411629 ORPHA:411634 OMIM:276700 ORPHA:93111 ORPHA:263455 OMIM:309000 ORPHA:447 OMIM:619743 OMIM:268315 OMIM:220110
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.