MCID: FNC004
MIFTS: 53

Fanconi Syndrome malady

Nephrological diseases category

Summaries for Fanconi Syndrome

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63Wikipedia, 46OMIM, 32MalaCards
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Wikipedia:63 Fanconi syndrome (also known as Fanconi\'s syndrome) is a disease of the proximal renal tubules of the... more...

MalaCards: Fanconi Syndrome, also known as adult fanconi syndrome, is related to proteinuria and dent's disease. An important gene associated with Fanconi Syndrome is NEK3 (NIMA-related kinase 3), and among its related pathways are Facilitative Na+-independent glucose transporters and Lysosome. The compounds 99mtc-dmsa and amikacin have been mentioned in the context of this disorder. Affiliated tissues include kidney, liver and bone, and related mouse phenotypes are skeleton and renal/urinary system.

Description from OMIM:46 134600,613388

Aliases & Classifications for Fanconi Syndrome

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8Disease Ontology, 10DISEASES, 60UMLS, 56SNOMED-CT, 39NCIt, 34MeSH, 46OMIM
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Anatomical: Nephrological diseases


Aliases & Descriptions:

fanconi syndrome 8 10
adult fanconi syndrome 8 60
cystinosis, infantile nephropathic 60
infantile nephropathic cystinosis 8
fanconi-de toni-debre syndrome 8
congenital fanconi syndrome 8
de toni-fanconi syndrome 8
fanconi-de toni syndrome 8
fanconi-de-toni syndrome 8
detoni fanconi syndrome 8
lignac-fanconi syndrome 8
adult fanconi anemia 8


Related Diseases for Fanconi Syndrome

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17GeneCards, 18GeneDecks
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Diseases in the Fanconi Syndrome family:

Fanconi Like Syndrome

Diseases related to Fanconi Syndrome via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 110)
idRelated DiseaseScoreTop Affiliating Genes
1proteinuria30.4AMBP, NAGLU, CLCN5
2dent's disease30.0OCRL, CLCN5
3glycogen storage disease30.0HNF1A, PHKA2, SLC2A2, NEK3
4nephrolithiasis29.8CLCN5
5hypophosphatemia29.8CLCN5, AMBP
6nephrocalcinosis29.8CLCN5, OCRL, NAGLU
7lysosomal storage disease29.8CTSD, CTNS, NAGLU
8diabetes mellitus29.8HNF1A, NAGLU, SLC2A2, AMBP
9adult syndrome10.8
10osteomalacia10.6
11cystinosis10.6
12myeloma10.5
13rickets10.4
14renal tubular acidosis10.4
15toni-debre-fanconi syndrome10.4
16multiple myeloma10.4
17fanconi renotubular syndrome10.4
18diabetes insipidus10.3
19hepatitis10.3
20interstitial nephritis10.3
21liver disease10.3
22nephrogenic diabetes insipidus10.3
23mitochondrial dna deletion syndromes10.3
24toni-fanconi syndrome10.3
25monoclonal ig light chain-associated fanconi syndrome10.3
26congenital hypoplastic anemia10.2
27nephrotic syndrome10.2
28uveitis10.2
29primary biliary cirrhosis10.1
30kearns-sayre syndrome10.1
31cystinuria10.1
32hepatitis b10.1
33histiocytosis10.1
34hyperparathyroidism10.1
35kidney disease10.1
36myopathy10.1
37retinitis pigmentosa10.1
38hemoglobinuria10.1
39acquired immunodeficiency syndrome10.1
40amyloidosis10.1
41liver cirrhosis10.1
42retinitis10.1
43thalassemia10.1
44fanconi renotubular syndrome 210.1
45glycogen storage disease type 1a10.0PHKA2, NEK3
46aminoaciduria10.0HNF1A, CLCN5
47acute intermittent porphyria10.0ALAD
48bartter disease10.0AVP
49fallopian tube cancer10.0SLC2A2, CLCN5, NAGLU
50primary hyperoxaluria10.0NAGLU, AMBP

Graphical network of the top 20 diseases related to Fanconi Syndrome:



Diseases related to fanconi syndrome

Clinical Features for Fanconi Syndrome

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46OMIM
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Clinical features from OMIM:

134600,613388

Drugs & Therapeutics for Fanconi Syndrome

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

Search CenterWatch for Fanconi Syndrome

Drug clinical trials:

Search ClinicalTrials for Fanconi Syndrome

Search NIH Clinical Center for Fanconi Syndrome

Search CenterWatch for Fanconi Syndrome

Genetic Tests for Fanconi Syndrome

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Anatomical Context for Fanconi Syndrome

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32MalaCards
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MalaCards organs/tissues related to Fanconi Syndrome:

32
Kidney, Liver, Bone, Bone marrow, Cortex, Lung, Breast

Animal Models for Fanconi Syndrome or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Fanconi Syndrome:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053909.2CTNS, ARHGAP1, NAGLU, CLCN5, INPP5E, SLC7A7
2MP:00053678.5SLC7A7, HNF1A, CTNS, ARHGAP1, OCRL, NAGLU
3MP:00053768.2HNF1A, CTSD, CTNS, ARHGAP1, OCRL, CLCN4

Publications for Fanconi Syndrome

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50PubMed
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Articles related to Fanconi Syndrome:

(show top 50)    (show all 476)
idTitleAuthorsYear
1
Acquired Fanconi Syndrome with Proximal Tubular Cytoplasmic Fibrillary Inclusions of I> Light Chain Restriction. (24429451)
2014
2
Carboplatin-induced Fanconi-like syndrome in rats: Amelioration by pentoxifylline. (24361643)
2013
3
Rifampin-associated tubulointersititial nephritis and Fanconi syndrome presenting as hypokalemic paralysis. (23320835)
2013
4
Myeloma crystal tubulopathy and Fanconi syndrome: a rare histological finding. (22612270)
2012
5
Fanconi syndrome following honeybee stings. (20953704)
2012
6
Severe metabolic acidosis and Fanconi syndrome during stavudine and abacavir therapy in a resource-limited setting. (23141987)
2012
7
Wilms tumor, AML, and medulloblastoma in a child with cancer prone syndrome of total premature chromatid separation and Fanconi anemia. (19856400)
2010
8
Fanconi syndrome caused by valproic acid. (20304335)
2010
9
Carnitine deficiency and oxidative stress provoke cardiotoxicity in an ifosfamide-induced Fanconi syndrome rat model: (20972373)
2010
10
Fanconi syndrome and CKD in a patient with paroxysmal nocturnal hemoglobinuria and hemosiderosis. (19833423)
2010
11
FANCM connects the genome instability disorders Bloom's Syndrome and Fanconi Anemia. (20064461)
2009
12
Identification and analysis of new proteins involved in the DNA damage response network of Fanconi anemia and Bloom syndrome. (19245838)
2009
13
Lysosomal enzymuria is a feature of hereditary Fanconi syndrome and is related to elevated CI-mannose-6-P-receptor excretion. (18174267)
2008
14
Hyperglycemia and hypoinsulinemia in patients with Fanconi-Bickel syndrome. (18717244)
2008
15
Detection of maleate-induced Fanconi syndrome by decreasing accumulation of 125I-3-iodo-alpha-methyl-L-tyrosine in the proximal tubule segment-1 region of renal cortex in mice: a trial of separate evaluation of reabsorption. (16715947)
2006
16
Development of Fanconi syndrome during infancy in a patient with cystinosis. (16497654)
2006
17
Osteomalacia due to chemotherapy-induced Fanconi syndrome in an adult patient. (15975640)
2005
18
Tenofovir-related nephrotoxicity in human immunodeficiency virus-infected patients: three cases of renal failure, Fanconi syndrome, and nephrogenic diabetes insipidus. (12684922)
2003
19
Hypokalemia due to Fanconi syndrome in a patient with obstructive jaundice. (12372962)
2002
20
Special feature: pathological case of the month. Glycogen storage disease with renal tubular dysfunction (type XI, Fanconi-Bickel syndrome). (11074862)
2000
21
A mutation in GLUT2, not in phosphorylase kinase subunits, in hepato- renal glycogenosis with Fanconi syndrome and low phosphorylase kinase activity. (10987651)
1999
22
V-domain deposition of lambda Bence Jones protein in the renal tubular epithelial cells in a patient with the adult Fanconi syndrome with myeloma. (9686306)
1998
23
Baller Gerold syndrome and Fanconi anaemia. (9450894)
1998
24
Mutations in GLUT2, the gene for the liver-type glucose transporter, in patients with Fanconi-Bickel syndrome. (9354798)
1997
25
Fanconi syndrome associated with cidofovir therapy. (9257778)
1997
26
Congenital Fanconi syndrome associated with renal dysplasia in 2 Border Terriers. (8947876)
1996
27
Mitochondrial encephalomyopathies preceded by de-Toni-DebrAc-Fanconi syndrome or focal segmental glomerulosclerosis. (8953126)
1996
28
Membranous nephropathy, interstitial nephritis, and Fanconi syndrome-- glomerular antigen. (8611361)
1996
29
Diabetes-like renal glomerular disease in Fanconi-Bickel syndrome. (7632512)
1995
30
Ifosfamide metabolite chloroacetaldehyde causes Fanconi syndrome in the perfused rat kidney. (7974492)
1994
31
Partial and complete de Toni-DebrAc-Fanconi syndrome after ifosfamide chemotherapy of childhood malignancy. (8486147)
1993
32
delta-Aminolevulinic acid dehydratase: effects of succinylacetone in rat liver and kidney in an in vivo model of the renal Fanconi syndrome. (1524874)
1992
33
Infantile nephropathic cystinosis presenting as incomplete Fanconi syndrome and refractory rickets. (2807481)
1989
34
Acute renal failure presenting as Fanconi syndrome with lambda light chain proteinuria and interstitial nephritis. (2736818)
1989
35
A case of glycogen storage disease type I associated with an incomplete type of Fanconi syndrome; the protective role of lysosomal alpha 1,4-glucosidase and insulin deficiency against hypoglycemia. (6398262)
1984
36
A family with a dominant form of idiopathic Fanconi syndrome leading to renal failure in adult life. (7032774)
1981
37
Familial Fanconi syndrome with malabsorption and galactose intolerance, normal kinase and transferase activity. A report on two siblings. (6274135)
1981
38
The Fanconi syndrome and mechanisms of tubular transport dysfunction. (7334745)
1981
39
Fanconi syndrome and oat cell carcinoma of the lung. (6251639)
1980
40
Autosomal dominant Fanconi syndrome with early renal failure. (263440)
1978
41
Hyperuricosuria in the Fanconi syndrome. (848505)
1977
42
Membrane permeability as a cause of transport defects in experimental Fanconi syndrome. A new hypothesis. (1262464)
1976
43
Effect of chronic salt and water loading on the tubular defects of a child with Fanconi syndrome (cystinosis). (958765)
1976
44
Letter: Fanconi syndrome with lambda light chains in urine. (805369)
1975
45
Idiopathic Fanconi syndrome without cystinosis. (5307879)
1969
46
An experimental renal acidification defect in patients with hereditary fructose intolerance. II. Its distinction from classic renal tubular acidosis; its resemblance to the renal acidification defect associated with the Fanconi syndrome of children with cystinosis. (5658593)
1968
47
Some problems of the adult Fanconi-syndrome. (5604980)
1967
48
Hair colour in the infantile Fanconi syndrome. (13373183)
1956
49
Hypoplastic anemia with multiple congenital anomalies (Fanconi syndrome). (14360748)
1955
50
Innate functional defects of the renal tubules, with particular reference to the Fanconi syndrome; cases with retinitis pigmentosa. (13056162)
1953

Genetic Variations for Fanconi Syndrome

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Expression for genes affiliated with Fanconi Syndrome

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1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Fanconi Syndrome

Search GEO for disease gene expression data for Fanconi Syndrome.

Pathways for genes affiliated with Fanconi Syndrome

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53Reactome, 29KEGG
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Compounds for genes affiliated with Fanconi Syndrome

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44Novoseek, 11DrugBank, 24HMDB, 49PharmGKB
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Compounds related to Fanconi Syndrome according to GeneCards/GeneDecks:

(show all 33)
idCompoundScoreTop Affiliating Genes
199mtc-dmsa4410.4AMBP, NAGLU
2amikacin4410.4AMBP, NAGLU
3iohexol4410.3AMBP, NAGLU
4inulin4410.3AMBP, NAGLU
5calcium oxalate4410.3NAGLU, AMBP
6dmsa4410.3ALAD, NAGLU, AMBP
7trichloroethylene4410.2ALAD, NAGLU, AMBP
8ulinastatin4410.2NAGLU, AMBP
9c-peptide4410.2SLC2A2, NAGLU, HNF1A
10monosaccharide4410.1SLC2A6, SLC2A2
11fluoride4410.1NAGLU, ARHGAP1, CTSD
12fructose44 1111.1NAGLU, SLC2A6, SLC2A2, ALAD
13malondialdehyde4410.1OGDH, NAGLU, ALAD
14uric acid44 2411.1AMBP, NAGLU, AVP, ALAD
15cadmium44 2411.0HNF1A, AMBP, NAGLU, ALAD
16latex4410.0NAGLU, CTSD, AMBP
17lead4410.0AMBP, NAGLU, ALAD
18chloride4410.0OCRL, CLCN4, CLCN5, AVP
19proline449.9HNF1A, PHKA2, AVP, SLC2A6, SLC2A2
20potassium44 11 2411.8HNF1A, AMBP, NAGLU, SLC2A2, ALAD
21pyruvate449.8HNF1A, OGDH, CTSD, PHKA2, SLC2A2
22citrate449.7SLC2A6, NAGLU, OGDH
23leucine449.7HNF1A, AMBP, CTSD, NAGLU, SLC2A2
24sodium44 2410.7AMBP, NAGLU, AVP, SLC7A7, SLC17A1, SLC2A2
25glycogen44 2410.7OGDH, PHKA2, NEK3, SLC2A2
26gold449.7NAGLU, CTSD, OGDH
27h2o2449.7OGDH, CTSD, NAGLU, CLCN5, SLC2A2
28sialic acid449.6AMBP, CTNS, NAGLU
29lactate449.6AMBP, OGDH, CTSD, NEK3, NAGLU, ALAD
30steroid449.6AVP, NAGLU, CTSD, AMBP, HNF1A
31calcium44 49 11 2412.1AMBP, OGDH, CTSD, PHKA2, NEK3, NAGLU
32glucose449.0HNF1A, AMBP, OGDH, CTSD, PHKA2, NAGLU
33creatinine448.9ALAD, HNF1A, AMBP, OGDH, CTSD, NEK3

GO Terms for genes affiliated with Fanconi Syndrome

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16Gene Ontology
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Biological processes related to Fanconi Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1heme biosynthetic processGO:00678310.1ALAD, HNF1A
2grooming behaviorGO:00762510.1AVP, CTNS
3generation of precursor metabolites and energyGO:0060919.9AVP, PHKA2, OGDH
4phosphatidylinositol dephosphorylationGO:0468569.8INPP5E, OCRL
5transmembrane transportGO:0550859.2SLC2A2, CLCN4, CLCN5, AVP, SLC2A6, SLC7A7
6small molecule metabolic processGO:0442819.2OGDH, PHKA2, OCRL, NAGLU, INPP5E, SLC2A2

Molecular functions related to Fanconi Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1phosphatidylinositol-4,5-bisphosphate 5-phosphatase activityGO:00443910.1INPP5E, OCRL
2Rac GTPase activator activityGO:03067510.0OCRL, ARHGAP1
3antiporter activityGO:0152979.9CLCN5, CLCN4
4voltage-gated chloride channel activityGO:0052479.7CLCN5, CLCN4

Products for genes affiliated with Fanconi Syndrome

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Fanconi Syndrome

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet