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 amikacin and 99mtc-dmsa 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:00053909.2INPP5E, CLCN5, NAGLU, ARHGAP1, CTNS, HNF1A
2MP:00053678.5HNF1A, SLC7A7, AVP, INPP5E, CLCN5, CLCN4
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
Comment on: Think to prevent before than to treat renal impairment in multiple myeloma: do not forget tubular damage mimicking Fanconi syndrome. (24295215)
2014
2
Werner syndrome helicase has a critical role in DNA damage responses in the absence of a functional fanconi anemia pathway. (23867477)
2013
3
Successful Medical Therapy for Hypophosphatemic Rickets due to Mitochondrial Complex I Deficiency Induced de Toni-DebrAc-Fanconi Syndrome. (24386581)
2013
4
Hypophosphatemic osteomalacia and renal Fanconi syndrome induced by low-dose adefovir dipivoxil: a case report and literature review suggesting ethnic predisposition. (23590583)
2013
5
Fanconi syndrome-like tubular acidosis associated with a tenofovir-containing antiretroviral regimen in a human immunodeficiency virus-1-infected Asian woman. (21918819)
2012
6
Downregulation of oxidative and nitrosative apoptotic signaling by L-carnitine in Ifosfamide-induced Fanconi syndrome rat model. (23213347)
2012
7
A mitochondrial DNA deletion presenting with corneal clouding and severe Fanconi syndrome. (22271366)
2012
8
Transient neonatal diabetes as a presentation of Fanconi- Bickel Syndrome. (23456528)
2012
9
Fanconi-Bickel syndrome. (21327337)
2012
10
Hypophosphatemic rickets: presenting features of fanconi-bickel syndrome. (22937383)
2011
11
Fanconi syndrome in four non-basenji dogs exposed to chicken jerky treats. (22058368)
2011
12
Fanconi syndrome due to deferasirox. (19493602)
2009
13
Renal Fanconi syndrome and myopathy after liver transplantation: drug-related mitochondrial cytopathy? (18186898)
2008
14
Fanconi syndrome and nephrogenic diabetes insipidus associated with didanosine therapy in HIV infection: a case report and literature review. (17905805)
2007
15
Acute renal failure and Fanconi syndrome in an AIDS patient on tenofovir treatment--case report and review of literature. (16038754)
2005
16
Fanconi-Bickel syndrome in three Turkish patients with different homozygous mutations. (16052858)
2005
17
Fanconi syndrome caused by antiepileptic therapy with valproic Acid. (15230715)
2004
18
Fanconi syndrome and acute renal failure in a patient treated with tenofovir: a call for caution. (15075563)
2004
19
Melatonin attenuates ifosfamide-induced Fanconi syndrome in rats. (15230864)
2004
20
The mutation spectrum of the facilitative glucose transporter gene SLC2A2 (GLUT2) in patients with Fanconi-Bickel syndrome. (11810292)
2002
21
Late-onset downregulation of NaPi-2 in experimental Fanconi syndrome. (11405115)
2001
22
Chinese herb nephropathy in Japan presents adult-onset Fanconi syndrome: could different components of aristolochic acids cause a different type of Chinese herb nephropathy? (10809420)
2000
23
Deletions in the mitochondrial DNA and decrease in the oxidative phosphorylation activity of children with Fanconi syndrome secondary to antiblastic therapy. (10401022)
1999
24
Fanconi-Bickel syndrome--a congenital defect of the liver-type facilitative glucose transporter. SSIEM Award. Society for the Study of Inborn Errors of Metabolism. (9686354)
1998
25
Ifosfamide-induced renal Fanconi syndrome with associated nephrogenic diabetes insipidus in an adult patient. (9641191)
1998
26
Induction of an experimental Fanconi syndrome in mice: its effect on the glomerular filtration function studied by 99mTc-DTPA. (8940724)
1996
27
Renal brush border membrane lipid composition in Basenji dogs with spontaneous idiopathic Fanconi syndrome. (8084281)
1994
28
The cellular basis of Fanconi syndrome. (8227243)
1993
29
Renal failure in adult onset hypophosphatemic osteomalacia with Fanconi syndrome: a family study and review of the literature. (1649711)
1991
30
Prevalence and geographic distribution of Fanconi syndrome in Basenjis in the United States. (2391269)
1990
31
Electrophoretic examination of proteinuria in Lowe's syndrome and other causes of renal tubular Fanconi syndrome. (2479496)
1989
32
Ifosfamide-induced Fanconi syndrome. (2566853)
1989
33
Hereditary tubular disorders of the Fanconi type and the idiopathic Fanconi syndrome. (2668968)
1989
34
Plasma and muscle free carnitine deficiency due to renal Fanconi syndrome. (3988933)
1985
35
Idiopathic de Toni-DebrAc-Fanconi syndrome with absence of proximal tubular brush border. (6488596)
1984
36
Renal refractoriness to PTH in experimental Fanconi syndrome: evidence for intact adenylate cyclase activation. (6095175)
1984
37
Osteomalacia, pseudosacroiliitis and necrosis of the femoral heads in Fanconi syndrome in an adult. (7288769)
1981
38
Biologic and therapeutic effects of 1 alpha-hydroxycholecalciferol in different types of Fanconi syndrome. (6893175)
1980
39
Nephrotic syndrome associated with Fanconi Syndrome. Immunopathogenic studies of tubulointerstitial nephritis with autologous immune-complex glomerulonephritis. (130817)
1976
40
Fanconi syndrome caused by degraded tetracycline. (5547594)
1971
41
Adult Fanconi syndrome and multiple myelomatosis. (5798628)
1969
42
The treatment of adult phosphate diabetes and Fanconi syndrome with neutral sodium phosphate. (6061263)
1967
43
ACQUIRED FANCONI SYNDROME FOLLOWING DEGRADED TETRACYCLINE. (14258922)
1965
44
Long term study of a family with the Fanconi syndrome and cystinuria. (5835230)
1965
45
REVERSIBLE FANCONI SYNDROME ASSOCIATED WITH DEGRADATION PRODUCTS OF TETRACYCLINE. CASE REPORT. (14172097)
1964
46
The Fanconi syndrome with renal hyperchloremic acidosis. Sequential development of multiple tubular dysfunctions in a child. (13870148)
1962
47
The de Toni-Fanconi syndrome with cystinosis; clinical and metabolic study of two cases in a family and a critical review on the nature of the syndrome. (13532161)
1958
48
The adult Fanconi syndrome. II. Review of eighteen cases. (13381735)
1957
49
The effect of intravenous lysine on the renal clearances of cystine, arginine and ornithine in normal subjects, in patients with cystinuria and Fanconi syndrome and in their relatives. (13414141)
1957
50
The Fanconi syndrome and its clinical variants. (13197387)
1954

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
1amikacin4410.4NAGLU, AMBP
299mtc-dmsa4410.4NAGLU, AMBP
3inulin4410.3NAGLU, AMBP
4iohexol4410.3NAGLU, AMBP
5calcium oxalate4410.3NAGLU, AMBP
6dmsa4410.3AMBP, NAGLU, ALAD
7trichloroethylene4410.2ALAD, NAGLU, AMBP
8ulinastatin4410.2AMBP, NAGLU
9c-peptide4410.2SLC2A2, NAGLU, HNF1A
10fluoride4410.1NAGLU, CTSD, ARHGAP1
11fructose44 1111.1NAGLU, SLC2A6, SLC2A2, ALAD
12malondialdehyde4410.1ALAD, NAGLU, OGDH
13uric acid44 2411.1ALAD, NAGLU, AVP, AMBP
14monosaccharide4410.1SLC2A6, SLC2A2
15cadmium44 2411.0NAGLU, AMBP, ALAD, HNF1A
16latex4410.0NAGLU, CTSD, AMBP
17lead4410.0NAGLU, ALAD, AMBP
18chloride4410.0AVP, CLCN5, OCRL, CLCN4
19proline449.9SLC2A6, AVP, PHKA2, HNF1A, SLC2A2
20potassium44 11 2411.8AMBP, HNF1A, ALAD, SLC2A2, NAGLU
21pyruvate449.8HNF1A, PHKA2, SLC2A2, CTSD, OGDH
22glycogen44 2410.8OGDH, PHKA2, NEK3, SLC2A2
23citrate449.7SLC2A6, NAGLU, OGDH
24leucine449.7AMBP, CTSD, NAGLU, SLC2A2, HNF1A
25sodium44 2410.7AVP, SLC7A7, SLC17A1, SLC2A2, AMBP, NAGLU
26gold449.7NAGLU, CTSD, OGDH
27h2o2449.7SLC2A2, OGDH, CTSD, NAGLU, CLCN5
28sialic acid449.6AMBP, NAGLU, CTNS
29lactate449.6ALAD, OGDH, CTSD, NEK3, NAGLU, AMBP
30steroid449.6AMBP, AVP, HNF1A, NAGLU, CTSD
31calcium44 49 11 2412.1ALAD, OGDH, AMBP, CTSD, PHKA2, NEK3
32glucose449.0AVP, SLC2A2, HNF1A, OGDH, SLC2A6, AMBP
33creatinine448.9NEK3, AVP, CLCN5, NAGLU, OCRL, CTSD

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:00762510.1CTNS, AVP
3generation of precursor metabolites and energyGO:0060919.9AVP, PHKA2, OGDH
4phosphatidylinositol dephosphorylationGO:0468569.8OCRL, INPP5E
5transmembrane transportGO:0550859.2CLCN4, CLCN5, AVP, SLC2A6, SLC7A7, SLC17A1
6small molecule metabolic processGO:0442819.2SLC2A2, OCRL, OGDH, PHKA2, INPP5E, ALAD

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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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