Hearing Loss Disease Portal


 
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Most Common: Hearing Loss (D034381), Deafness (D003638), Sensorineural HL (D006319), Waardenburg Syndrome, Usher Syndromes
Disease Browser
Parent Node:
expandKidney Diseases (D007674)
Parent Node:
expandRenal Tubular Transport, Inborn Errors (D015499)
..Starting node
..expandFanconi Syndrome (D005198)

       Child Nodes:
........expandDeal Barratt Dillon syndrome (C538206)
........expandPreeyasombat Varavithya syndrome (C535269)
........expandRod-Cone Dystrophy, Sensorineural Deafness, and Fanconi-Type Renal Dysfunction (C564829)



 Sister Nodes: 
..expandAcidosis, Renal Tubular (D000141) Child11
..expandAzotemia, Familial (C566233)
..expandBartter Syndrome (D001477) Child8
..expandDent Disease (D057973) Child1
..expandDonnai-Barrow syndrome (C536390)
..expandFanconi Syndrome (D005198) Child3
..expandGitelman Syndrome (D053579) Child1
..expandGlycosuria, Renal (D006030) Child1
..expandHypomagnesemia 1, Intestinal (C566593)
..expandHypomagnesemia 2, renal (C537152)
..expandHypomagnesemia 4, Renal (C567127)
..expandHypomagnesemia 5, Renal, with Ocular Involvement (C565423)
..expandHypomagnesemia primary (C537153)
..expandHypomagnesemia, Hypertension, and Hypercholesterolemia, Mitochondrial (C564024)
..expandHypophosphatemia, Familial (D007015) Child11
..expandHypouricemia, Familial Renal, due to Tubular Hypersecretion (C564405)
..expandHypouricemia, Hypercalcinuria, and Decreased Bone Density (C565475)
..expandHypouricemia, Renal, 2 (C567426)
..expandIminoglycinuria (C536285)
..expandLiddle Syndrome (D056929)
..expandNephrolithiasis-Osteoporosis, Hypophosphatemic, 1 (C567363)
..expandNephrolithiasis-Osteoporosis, Hypophosphatemic, 2 (C567362)
..expandOculocerebrorenal Syndrome (D009800) Child1
..expandPseudohypoaldosteronism (D011546) Child4
..expandRenal Aminoacidurias (D000608) Child9
..expandRenal hypouricemia (C537757)
   

Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM, CTD
Term ID:4188
Name:Fanconi Syndrome
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.
Alternative IDs:OMIM:134600|OMIM:227810|OMIM:613388
ParentIDs:MESH:D007674|MESH:D015499
TreeNumbers:C12.777.419.250 |C12.777.419.815.450 |C13.351.968.419.250 |C13.351.968.419.815.450 |C16.320.565.861.450 |C18.452.648.861.450
Synonyms:Adult Fanconi Syndrome |Bickel Syndrome, Fanconi |De Toni-Debre-Fanconi Syndrome |Diabete, Pseudo-Phlorizin |Diabetes, Pseudo-Phlorizin |Fanconi Bickel Syndrome |Fanconi-Bickel Syndrome |Fanconi-Bickel Syndromes |Fanconi Renotubular Syndrome |FANCONI RENOTUBULAR
Slim Mappings:Genetic disease (inborn)|Metabolic disease|Urogenital disease (female)|Urogenital disease (male)
Reference: MedGen: D005198
MeSH: D005198
OMIM: 134600;

Genes: SLC2A2; SLC34A1;
Phenotypes
1 HP:0000006Autosomal dominant inheritance
2 HP:0003076Glycosuria
3 HP:0002900Hypokalemia
4 HP:0002148Hypophosphatemia
5 HP:0003648Lacticaciduria
6 HP:0001324Muscle weakness
7 HP:0002749Osteomalacia
8 HP:0000093Proteinuria
9 HP:0000083Renal insufficiency
10 HP:0000124Renal tubular dysfunction
11 HP:0002748Rickets
12 HP:0004322Short stature
Disease Causing ClinVar Variants