MCID: FNC004
MIFTS: 49

Fanconi Syndrome malady

Nephrological diseases, Rare diseases, Immune diseases categories

Summaries for Fanconi Syndrome

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66Wikipedia, 48OMIM, 34MalaCards
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Wikipedia:66 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 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.

Description from OMIM:48 613388,134600

Aliases & Classifications for Fanconi Syndrome

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9Disease Ontology, 11DISEASES, 63UMLS, 59SNOMED-CT, 48OMIM, 41NCIt, 36MeSH
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Rare diseases
Anatomical: Nephrological diseases, Immune diseases


Aliases & Descriptions:

fanconi syndrome 9 11
adult fanconi syndrome 9 63
cystinosis, infantile nephropathic 63
infantile nephropathic cystinosis 9
fanconi-de toni-debre syndrome 9
congenital fanconi syndrome 9
de toni-fanconi syndrome 9
fanconi-de-toni syndrome 9
fanconi-de toni syndrome 9
detoni fanconi syndrome 9
lignac-fanconi syndrome 9
adult fanconi anemia 9


Related Diseases for Fanconi Syndrome

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18GeneCards, 19GeneDecks
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Diseases in the Fanconi Syndrome family:

Fanconi Like Syndrome Hereditary Primary Fanconi Disease

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

(show top 50)    (show all 102)
idRelated DiseaseScoreTop Affiliating Genes
1hypoglycemia29.9SLC2A2, AVP
2osteomalacia10.6
3cystinosis10.6
4myeloma10.6
5nephritis10.5
6toni-debre-fanconi syndrome10.5
7rickets10.4
8toni-fanconi syndrome10.4
9renal tubular acidosis10.4
10multiple myeloma10.4
11fanconi renotubular syndrome10.4
12diabetes insipidus10.4
13hepatitis10.4
14interstitial nephritis10.4
15liver disease10.3
16nephrogenic diabetes insipidus10.3
17proteinuria10.3
18monoclonal ig light chain-associated fanconi syndrome10.3
19uveitis10.2
20aminoaciduria10.2
21cystinuria10.2
22kearns-sayre syndrome10.2
23hepatitis b10.2
24primary biliary cirrhosis10.2
25histiocytosis10.2
26hyperparathyroidism10.2
27myopathy10.2
28hemoglobinuria10.1
29retinitis pigmentosa10.1
30acquired immunodeficiency syndrome10.1
31amyloidosis10.1
32glycogen storage disease10.1
33kidney disease10.1
34nephrotic syndrome10.1
35retinitis10.1
36thalassemia10.1
37dent's disease10.1
38fanconi bickel syndrome10.1
39nephropathic cystinosis10.1
40oncogenic osteomalacia10.1
41paroxysmal nocturnal hemoglobinuria10.1
42tubulointerstitial nephritis and uveitis10.1
43fanconi renotubular syndrome 210.1
44neurofibromatosis9.9
45ossifying fibroma9.9
46ankylosing spondylitis9.9
47reflex sympathetic dystrophy9.9
48focal segmental glomerulosclerosis9.9
49pearson syndrome9.9
50renal glycosuria9.9

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



Diseases related to fanconi syndrome

Symptoms for Fanconi Syndrome

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48OMIM
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Clinical features from OMIM:

613388,134600

Drugs & Therapeutics for Fanconi Syndrome

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6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
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Approved drugs:

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Drug clinical trials:

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Genetic Tests for Fanconi Syndrome

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Anatomical Context for Fanconi Syndrome

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34MalaCards
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MalaCards organs/tissues related to Fanconi Syndrome:

34
Kidney, Liver, Bone, Lung, Cortex

Animal Models for Fanconi Syndrome or affiliated genes

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38MGI
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MGI Mouse Phenotypes related to Fanconi Syndrome:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053678.8CTNS, SLC7A7, AVP
2MP:00053698.5CTNS, SLC2A2, SLC7A7
3MP:00053868.1SLC7A7, AVP, CTNS, SLC2A2
4MP:00053767.8AVP, CTNS, SLC2A2, SLC7A7

Publications for Fanconi Syndrome

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53PubMed
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Articles related to Fanconi Syndrome:

(show top 50)    (show all 399)
idTitleAuthorsYear
1
Acquired Fanconi Syndrome with Proximal Tubular Cytoplasmic Fibrillary Inclusions of I> Light Chain Restriction. (24429451)
2014
2
Renal Fanconi syndrome associated with monoclonal I_ free light chain in a patient with WaldenstrAPm macroglobulinemia. (23758066)
2013
3
Fanconi syndrome-like tubular acidosis associated with a tenofovir-containing antiretroviral regimen in a human immunodeficiency virus-1-infected Asian woman. (21918819)
2012
4
Downregulation of oxidative and nitrosative apoptotic signaling by L-carnitine in Ifosfamide-induced Fanconi syndrome rat model. (23213347)
2012
5
Myeloma crystal tubulopathy and Fanconi syndrome: a rare histological finding. (22612270)
2012
6
MYO5B mutations in patients with microvillus inclusion disease presenting with transient renal Fanconi syndrome. (22441677)
2012
7
Valproate-induced Fanconi syndrome in a 27-year-old woman. (21516379)
2011
8
Tenofovir/probenecid combination in HIV/HBV-coinfected patients: how to escape Fanconi syndrome recurrence? (20386378)
2010
9
Hypokalemic paralysis as primary presentation of Fanconi syndrome associated with SjAPgren syndrome. (20414123)
2010
10
Crystal-storing histiocytosis with renal Fanconi syndrome: pathological and molecular characteristics compared with classical myeloma-associated Fanconi syndrome. (20356978)
2010
11
Severe hypophosphatemic osteomalacia with Fanconi syndrome, renal tubular acidosis, vitamin D deficiency and primary biliary cirrhosis. (19252361)
2009
12
De Toni-DebrAc-Fanconi syndrome in a patient with Kearns-Sayre syndrome: a case report. (19946579)
2009
13
Fanconi syndrome and lactic acidosis associated with stavudine and lamivudine therapy. (18580619)
2008
14
Efforts to establish an animal model of Fanconi syndrome after ifosfamide administration to rats. (17265418)
2007
15
Tubulo-interstitial nephritis with Fanconi syndrome in BehAset disease. (17405783)
2007
16
Paraquat-induced Fanconi syndrome. (16221089)
2005
17
Tenofovir-associated nephrotoxicity: Fanconi syndrome and renal failure. (15308442)
2004
18
De Toni-DebrAc-Fanconi syndrome due to a palindrome-flanked deletion in mitochondrial DNA. (15133725)
2004
19
Renal Fanconi syndrome: first sign of partial respiratory chain complex IV deficiency. (10872193)
2000
20
A mutation in GLUT2, not in phosphorylase kinase subunits, in hepato- renal glycogenosis with Fanconi syndrome and low phosphorylase kinase activity. (10987651)
1999
21
The Fanconi syndrome of cystinosis: insights into the pathophysiology. (9745876)
1998
22
Extensive reflex sympathetic dystrophy syndrome of the lower limbs leading to a diagnosis of osteomalacia due to Fanconi syndrome. (9338939)
1997
23
Neonatal De Toni-DebrAc-Fanconi syndrome due to a defect in complex III of the respiratory chain. (8582406)
1995
24
Ifosfamide-induced Fanconi syndrome. (7663031)
1995
25
Fanconi syndrome in a Labrador retriever. (7884724)
1994
26
Electrophoretic examination of proteinuria in Lowe's syndrome and other causes of renal tubular Fanconi syndrome. (2479496)
1989
27
Infantile nephropathic cystinosis presenting as incomplete Fanconi syndrome and refractory rickets. (2807481)
1989
28
Adult Fanconi syndrome in kappa light chain myeloma. (3101650)
1987
29
Fanconi syndrome and osteomalacia without hyperparathyroidism. (3006213)
1986
30
Vitamin D metabolites and osteomalacia in the human Fanconi syndrome. (3991574)
1985
31
Idiopathic de Toni-DebrAc-Fanconi syndrome with absence of proximal tubular brush border. (6488596)
1984
32
The mechanism of decreased Na+-dependent D-glucose transport in brush-border membrane vesicles from rabbit kidneys with experimental Fanconi syndrome. (6538438)
1984
33
Hypercalciuria in a child with primary Fanconi syndrome and hearing loss. (6853042)
1983
34
A family with a dominant form of idiopathic Fanconi syndrome leading to renal failure in adult life. (7032774)
1981
35
Metabolic abnormalities in the idiopathic Fanconi syndrome: studies of carbohydrate metabolism in two patients. (7017570)
1981
36
Proline and glucose transport by renal membranes from dogs with spontaneous idiopathic Fanconi syndrome. (6950417)
1981
37
Evidence for renal tubular leakage in maleic acid-induced Fanconi syndrome. (7435624)
1980
38
Peptiduria in experimental Fanconi syndrome in rats. (477261)
1979
39
Fanconi syndrome associated with cephalothin and gentamicin therapy. (343914)
1978
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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2BioGPS, 16Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Fanconi Syndrome

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Pathways for genes affiliated with Fanconi Syndrome

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51PathCards, 56Reactome
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Compounds for genes affiliated with Fanconi Syndrome

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46Novoseek, 25HMDB, 52PharmGKB, 12DrugBank
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Compounds related to Fanconi Syndrome according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1uric acid46 2510.6AVP, ALAD
2ethanol46 52 25 1212.6ALAD, AVP
3creatinine469.5ALAD, AVP
4fructose46 1210.3ALAD, SLC2A2
5potassium46 25 1211.1ALAD, SLC2A2
6lysine469.1ALAD, SLC7A7
7proline469.1AVP, SLC2A2
8sodium46 259.9AVP, SLC2A2, SLC7A7
9arginine468.8SLC7A7, SLC2A2, AVP

GO Terms for genes affiliated with Fanconi Syndrome

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17Gene Ontology
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Biological processes related to Fanconi Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1grooming behaviorGO:0076259.3CTNS, AVP
2cellular amino acid metabolic processGO:0065209.0SLC7A7, CTNS
3transmembrane transportGO:0550858.7SLC7A7, SLC2A2, AVP

Products for genes affiliated with Fanconi Syndrome

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Sources for Fanconi Syndrome

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet