MCID: FNC004
MIFTS: 44

Fanconi Syndrome malady

Nephrological diseases, Metabolic diseases, Rare diseases, Immune diseases categories

Summaries for Fanconi Syndrome

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Disease Ontology:9 A renal tubular transport disease of the proximal renal tubes characterized by glucosuria, phosphaturia, generalized aminoaciduria and hco3 wasting.

MalaCards based summary: Fanconi Syndrome, also known as adult fanconi syndrome, is related to hypoglycemia and osteomalacia. An important gene associated with Fanconi Syndrome is AVP (arginine vasopressin), and among its related pathways is Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds. The compounds uric acid and ethanol have been mentioned in the context of this disorder. Affiliated tissues include kidney, liver and bone, and related mouse phenotypes are renal/urinary system and muscle.

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

Aliases & Classifications for Fanconi Syndrome

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Fanconi Syndrome, Aliases & Descriptions:

Name: Fanconi Syndrome 9 11 60
Adult Fanconi Syndrome 9 60
Cystinosis, Infantile Nephropathic 60
Nephropathic Infantile Cystinosis 47
Infantile Nephropathic Cystinosis 9
De Toni-Debre-Fanconi Syndrome 60
Congenital Fanconi Syndrome 9
Fanconi-De-Toni Syndrome 9
 
De Toni-Fanconi Syndrome 9
Fanconi-De Toni Syndrome 9
Lignac-Fanconi Syndrome 9
Fanconi-Bickel Syndrome 60
Detoni Fanconi Syndrome 9
Adult Fanconi Anemia 9
Fanconi Anemia 60


Classifications:



Related Diseases for Fanconi Syndrome

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Diseases in the Fanconi Syndrome family:

Fanconi Like Syndrome Hereditary Primary Fanconi Disease
Primary Fanconi Syndrome

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

(show top 50)    (show all 99)
idRelated DiseaseScoreTop Affiliating Genes
1hypoglycemia29.8SLC2A2, AVP
2osteomalacia10.6
3cystinosis10.6
4myeloma10.6
5toni-debre-fanconi syndrome10.5
6nephritis10.5
7toni-fanconi syndrome10.5
8hepatitis10.5
9rickets10.5
10multiple myeloma10.4
11diabetes insipidus10.4
12primary fanconi syndrome10.4
13fanconi renotubular syndrome 110.4
14renal tubular acidosis10.4
15interstitial nephritis10.4
16liver disease10.4
17hepatitis b10.3
18proteinuria10.3
19monoclonal ig light chain-associated fanconi syndrome10.3
20kearns-sayre syndrome10.3
21hyperparathyroidism10.3
22uveitis10.3
23aminoaciduria10.3
24cystinuria10.2
25primary biliary cirrhosis10.2
26myopathy10.2
27nephrotic syndrome10.2
28proximal renal tubular acidosis10.2
29fanconi-bickel syndrome10.1
30lysinuric protein intolerance10.1
31cystinosis, nephropathic10.1
32dent disease10.1
33hypophosphatemic rickets10.1
34glycogen storage disease10.1
35paroxysmal nocturnal hemoglobinuria10.1
36thalassemia10.1
37acquired immunodeficiency syndrome10.1
38primary hyperparathyroidism10.1
39adult-onset still's disease10.1
40amyloidosis10.1
41hemoglobinuria10.1
42histiocytosis10.1
43kidney disease10.1
44oncogenic osteomalacia10.1
45tubulointerstitial nephritis and uveitis10.1
46mitochondrial complex i deficiency10.0
47mitochondrial complex iv deficiency10.0
48saethre-chotzen syndrome10.0
49phenylketonuria10.0
50isovaleric acidemia10.0

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



Diseases related to fanconi syndrome

Symptoms for Fanconi Syndrome

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Drugs & Therapeutics for Fanconi Syndrome

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Drug clinical trials:

Search ClinicalTrials for Fanconi Syndrome

Search NIH Clinical Center for Fanconi Syndrome

Genetic Tests for Fanconi Syndrome

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Anatomical Context for Fanconi Syndrome

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MalaCards organs/tissues related to Fanconi Syndrome:

31
Kidney, Liver, Bone, Cortex, Lung

Animal Models for Fanconi Syndrome or affiliated genes

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MGI Mouse Phenotypes related to Fanconi Syndrome:

35
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053678.8SLC7A7, CTNS, AVP
2MP:00053698.5SLC7A7, SLC2A2, CTNS
3MP:00053868.1SLC7A7, SLC2A2, CTNS, AVP
4MP:00053767.8AVP, CTNS, SLC2A2, SLC7A7

Publications for Fanconi Syndrome

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Articles related to Fanconi Syndrome:

(show top 50)    (show all 422)
idTitleAuthorsYear
1
Successful treatment with glucocorticoid for secondary Fanconi syndrome caused by sarcoidosis. (25698227)
2015
2
Tenofovir-associated Fanconi syndrome and nephrotic syndrome in a patient with chronic hepatitis B monoinfection. (25645518)
2015
3
Acquired Fanconi Syndrome with Proximal Tubular Cytoplasmic Fibrillary Inclusions of I> Light Chain Restriction. (24429451)
2014
4
Renal Fanconi syndrome associated with monoclonal I_ free light chain in a patient with WaldenstrAPm macroglobulinemia. (23758066)
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
Myeloma crystal tubulopathy and Fanconi syndrome: a rare histological finding. (22612270)
2012
8
MYO5B mutations in patients with microvillus inclusion disease presenting with transient renal Fanconi syndrome. (22441677)
2012
9
Valproate-induced Fanconi syndrome in a 27-year-old woman. (21516379)
2011
10
Tenofovir/probenecid combination in HIV/HBV-coinfected patients: how to escape Fanconi syndrome recurrence? (20386378)
2010
11
Hypokalemic paralysis as primary presentation of Fanconi syndrome associated with SjAPgren syndrome. (20414123)
2010
12
Crystal-storing histiocytosis with renal Fanconi syndrome: pathological and molecular characteristics compared with classical myeloma-associated Fanconi syndrome. (20356978)
2010
13
Severe hypophosphatemic osteomalacia with Fanconi syndrome, renal tubular acidosis, vitamin D deficiency and primary biliary cirrhosis. (19252361)
2009
14
De Toni-DebrAc-Fanconi syndrome in a patient with Kearns-Sayre syndrome: a case report. (19946579)
2009
15
Fanconi syndrome and lactic acidosis associated with stavudine and lamivudine therapy. (18580619)
2008
16
Efforts to establish an animal model of Fanconi syndrome after ifosfamide administration to rats. (17265418)
2007
17
Tubulo-interstitial nephritis with Fanconi syndrome in BehAset disease. (17405783)
2007
18
Paraquat-induced Fanconi syndrome. (16221089)
2005
19
Tenofovir-associated nephrotoxicity: Fanconi syndrome and renal failure. (15308442)
2004
20
De Toni-DebrAc-Fanconi syndrome due to a palindrome-flanked deletion in mitochondrial DNA. (15133725)
2004
21
Renal Fanconi syndrome: first sign of partial respiratory chain complex IV deficiency. (10872193)
2000
22
A mutation in GLUT2, not in phosphorylase kinase subunits, in hepato- renal glycogenosis with Fanconi syndrome and low phosphorylase kinase activity. (10987651)
1999
23
The Fanconi syndrome of cystinosis: insights into the pathophysiology. (9745876)
1998
24
Extensive reflex sympathetic dystrophy syndrome of the lower limbs leading to a diagnosis of osteomalacia due to Fanconi syndrome. (9338939)
1997
25
Neonatal De Toni-DebrAc-Fanconi syndrome due to a defect in complex III of the respiratory chain. (8582406)
1995
26
Fanconi syndrome in a Labrador retriever. (7884724)
1994
27
Electrophoretic examination of proteinuria in Lowe's syndrome and other causes of renal tubular Fanconi syndrome. (2479496)
1989
28
Infantile nephropathic cystinosis presenting as incomplete Fanconi syndrome and refractory rickets. (2807481)
1989
29
Adult Fanconi syndrome in kappa light chain myeloma. (3101650)
1987
30
Fanconi syndrome and osteomalacia without hyperparathyroidism. (3006213)
1986
31
Vitamin D metabolites and osteomalacia in the human Fanconi syndrome. (3991574)
1985
32
Idiopathic de Toni-DebrAc-Fanconi syndrome with absence of proximal tubular brush border. (6488596)
1984
33
The mechanism of decreased Na+-dependent D-glucose transport in brush-border membrane vesicles from rabbit kidneys with experimental Fanconi syndrome. (6538438)
1984
34
Hypercalciuria in a child with primary Fanconi syndrome and hearing loss. (6853042)
1983
35
A family with a dominant form of idiopathic Fanconi syndrome leading to renal failure in adult life. (7032774)
1981
36
Metabolic abnormalities in the idiopathic Fanconi syndrome: studies of carbohydrate metabolism in two patients. (7017570)
1981
37
Proline and glucose transport by renal membranes from dogs with spontaneous idiopathic Fanconi syndrome. (6950417)
1981
38
Evidence for renal tubular leakage in maleic acid-induced Fanconi syndrome. (7435624)
1980
39
Peptiduria in experimental Fanconi syndrome in rats. (477261)
1979
40
Neurogenic muscle atrophy and osteomalacia in adult Fanconi syndrome. (889295)
1977
41
Nephrotic syndrome associated with Fanconi Syndrome. Immunopathogenic studies of tubulointerstitial nephritis with autologous immune-complex glomerulonephritis. (130817)
1976
42
Letter: Fanconi syndrome with lambda light chains in urine. (805369)
1975
43
Fanconi syndrome following homotransplantation. (4591268)
1974
44
Experimental Fanconi syndrome. II. Effect of maleic acid on renal tubular ultrastructure. (4267386)
1973
45
The adult Fanconi syndrome: observations on etiology, morphology, renal function and mineral metabolism in three patients. (5013635)
1972
46
Fanconi syndrome with renal tubular acidosis and light chain proteinuria. (5155597)
1971
47
Adult Fanconi syndrome and multiple myelomatosis. (5798628)
1969
48
Osteomalacia and renal glycosuria in adults; metabolic investigation of a case with particular reference to its relation to the Fanconi syndrome and to treatment. (14900385)
1952
49
Familial panmyelophthisis; Fanconi syndrome in adults. (18107664)
1949
50
Studies on the mechanism of the Fanconi syndrome. (20272866)
1947

Variations for Fanconi Syndrome

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Expression for genes affiliated with Fanconi Syndrome

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Search GEO for disease gene expression data for Fanconi Syndrome.

Pathways for genes affiliated with Fanconi Syndrome

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Compounds for genes affiliated with Fanconi Syndrome

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Sources:
43Novoseek, 24HMDB, 49PharmGKB, 12DrugBank
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Compounds related to Fanconi Syndrome according to GeneCards Suite gene sharing:

idCompoundScoreTop Affiliating Genes
1uric acid43 2410.6AVP, ALAD
2ethanol43 49 24 1212.6AVP, ALAD
3creatinine439.5ALAD, AVP
4fructose43 1210.3SLC2A2, ALAD
5potassium43 24 1211.1SLC2A2, ALAD
6lysine439.1SLC7A7, ALAD
7proline439.1SLC2A2, AVP
8sodium43 249.9SLC7A7, SLC2A2, AVP
9arginine438.8SLC7A7, SLC2A2, AVP

GO Terms for genes affiliated with Fanconi Syndrome

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Biological processes related to Fanconi Syndrome according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1grooming behaviorGO:00076259.3CTNS, AVP
2cellular amino acid metabolic processGO:00065209.0SLC7A7, CTNS
3transmembrane transportGO:00550858.7SLC7A7, SLC2A2, AVP

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
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet