MCID: FNC004
MIFTS: 52

Fanconi Syndrome malady

Nephrological category

Summaries for Fanconi Syndrome

Sources:
64Wikipedia, 47OMIM, 33MalaCards
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Wikipedia:64 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 aminoaciduria 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 liver, kidney and lung, and related mouse phenotypes are skeleton and renal/urinary system.

Description from OMIM:47 134600,613388

Aliases & Classifications for Fanconi Syndrome

Sources:
8Disease Ontology, 10DISEASES, 61UMLS, 57SNOMED-CT, 40NCIt, 35MeSH, 47OMIM
See all sources

Classifications:

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


Aliases & Descriptions:

fanconi syndrome 8 10
adult fanconi syndrome 8 61
cystinosis, infantile nephropathic 61
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

Sources:
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 118)
idRelated DiseaseScoreTop Affiliating Genes
1aminoaciduria30.3CLCN5, HNF1A
2dent's disease30.2CLCN5, OCRL
3nephrolithiasis29.8CLCN5
4hypophosphatemia29.8CLCN5, AMBP
5nephrocalcinosis29.8OCRL, NAGLU, CLCN5
6adult syndrome10.8
7n syndrome10.8
8toni-fanconi syndrome10.6
9osteomalacia10.6
10cystinosis10.6
11nephritis10.5
12toni-debre-fanconi syndrome10.4
13kid syndrome10.4
14rickets10.4
15renal tubular acidosis10.4
16fanconi renotubular syndrome10.4
17diabetes insipidus10.3
18nephrogenic diabetes insipidus10.3
19fanconi's anemia10.3
20monoclonal ig light chain-associated fanconi syndrome10.3
21uveitis10.2
22char syndrome10.2
23primary biliary cirrhosis10.2
24kearns-sayre syndrome10.2
25cystinuria10.2
26micro syndrome10.2
27say syndrome10.2
28pearson syndrome10.1
29hepatitis c10.1
30retinitis pigmentosa10.1
31hemoglobinuria10.1
32acquired immunodeficiency syndrome10.1
33wissler's syndrome10.1
34down syndrome10.1
35hepatitis a10.1
36amyloidosis10.1
37thalassemia10.1
38bod syndrome10.1
39nephropathic cystinosis10.1
40jones syndrome10.1
41paroxysmal nocturnal hemoglobinuria10.1
42fanconi renotubular syndrome 210.1
43primary renal tubular acidosis10.1
44glycogen storage disease type 1a10.0NEK3, PHKA2
45acute intermittent porphyria10.0ALAD
46bartter disease10.0AVP
47fallopian tube cancer10.0NAGLU, CLCN5, SLC2A2
48primary hyperoxaluria10.0NAGLU, AMBP
49oculocerebrorenal syndrome10.0INPP5E, NAGLU, OCRL
50urinary tract obstruction10.0NAGLU, AMBP

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



Diseases related to fanconi syndrome

Clinical Features for Fanconi Syndrome

Sources:
47OMIM
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Clinical features from OMIM:

134600,613388

Drugs & Therapeutics for Fanconi Syndrome

Sources:
5CenterWatch, 42NIH 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

Anatomical Context for Fanconi Syndrome

Sources:
33MalaCards
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MalaCards organs/tissues related to Fanconi Syndrome:

33
Liver, Kidney, Lung, Bone marrow, Cortex, Skeletal muscle, Breast, B cells, Adrenal cortex

Animal Models for Fanconi Syndrome or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
See all sources

MGI Mouse Phenotypes related to Fanconi Syndrome:

37
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

Sources:
51PubMed
See all sources

Articles related to Fanconi Syndrome:

(show top 50)    (show all 511)
idTitleAuthorsYear
1
Analysis of molecular forms of urine Retinol-Binding Protein in Fanconi Syndrome and design of an accurate immunoassay. (22120727)
2012
2
A case of zoledronate-induced tubulointerstitial nephritis with Fanconi syndrome. (22814143)
2012
3
Reversible Fanconi syndrome in a pediatric patient on deferasirox. (21298760)
2011
4
Fractures and Fanconi syndrome due to prolonged sodium valproate use. (21717384)
2011
5
Tenofovir/probenecid combination in HIV/HBV-coinfected patients: how to escape Fanconi syndrome recurrence? (20386378)
2010
6
Mitochondrial dysfunction in some oxidative stress-related genetic diseases: Ataxia-Telangiectasia, Down Syndrome, Fanconi Anaemia and Werner Syndrome. (20237955)
2010
7
Plasma cell dyscrasia causing light chain tubulopathy without Fanconi syndrome. (19850387)
2010
8
Renal Fanconi syndrome and myopathy after liver transplantation: drug-related mitochondrial cytopathy? (18186898)
2008
9
Impaired removal of DNA interstrand cross-link in Nijmegen breakage syndrome and Fanconi anemia, but not in BRCA-defective group. (18771529)
2008
10
Efforts to establish an animal model of Fanconi syndrome after ifosfamide administration to rats. (17265418)
2007
11
Acquired hypophosphatemia osteomalacia associated with Fanconi's syndrome in SjAPgren's syndrome. (17094001)
2007
12
Bone disease and pathologic fractures in a patient with tenofovir-induced Fanconi syndrome. (17632940)
2007
13
Bilateral adrenal neuroblastoma and nephroblastoma occurring synchronously in a child with Fanconi's anemia and VACTERL syndrome. (16410081)
2006
14
Light chain-associated Fanconi syndrome with nephrotic-range proteinuria. (16570366)
2006
15
A patient with symptomatic osteomalacia associated with Fanconi syndrome. (17029065)
2005
16
Adult onset Fanconi syndrome: extensive tubulo-interstitial lesions and glomerulopathy in the early stage of Chinese herbs nephropathy. (15480910)
2004
17
Fanconi syndrome caused by antiepileptic therapy with valproic Acid. (15230715)
2004
18
Fragmentation of filtered proteins and implications for glomerular protein sieving in Fanconi syndrome. (12081599)
2002
19
Negligible urinary cysteamine loss in cystinosis patients with Fanconi syndrome. (12036193)
2002
20
Late-onset downregulation of NaPi-2 in experimental Fanconi syndrome. (11405115)
2001
21
Mutation analysis of the GLUT2 gene in patients with Fanconi-Bickel syndrome. (11044475)
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
Thymoquinone attenuates ifosfamide-induced Fanconi syndrome in rats and enhances its antitumor activity in mice. (10619376)
1999
24
Lambda light chain induced nephropathy: a rare cause of the Fanconi syndrome and severe osteomalacia. (10074597)
1998
25
Body growth in primary de Toni-DebrAc-Fanconi syndrome. (9035171)
1997
26
Fanconi anemia in brothers initially diagnosed with VACTERL association with hydrocephalus, and subsequently with Baller-Gerold syndrome. (8741921)
1996
27
Neonatal De Toni-DebrAc-Fanconi syndrome due to a defect in complex III of the respiratory chain. (8582406)
1995
28
Ifosfamide-induced Fanconi syndrome. (7663031)
1995
29
Anticonvulsants as a cause of Fanconi syndrome. (7624000)
1995
30
Heterozygous manifestations in four autosomal recessive human cancer-prone syndromes: ataxia telangiectasia, xeroderma pigmentosum, Fanconi anemia, and Bloom syndrome. (1279391)
1992
31
Idiopathic Fanconi syndrome with progressive renal failure: a case report and discussion. (2356624)
1990
32
Fanconi syndrome after ifosfamide. (2910509)
1989
33
Oral carnitine therapy in children with cystinosis and renal Fanconi syndrome. (3276734)
1988
34
Fanconi syndrome and osteomalacia without hyperparathyroidism. (3006213)
1986
35
The mechanism of decreased Na+-dependent D-glucose transport in brush-border membrane vesicles from rabbit kidneys with experimental Fanconi syndrome. (6538438)
1984
36
Evidence for renal tubular leakage in maleic acid-induced Fanconi syndrome. (7435624)
1980
37
Hypercalciuria in idiopathic Fanconi syndrome. (477682)
1979
38
Florid focal epithelial hyperplasia in Fanconi's syndrome. (285722)
1979
39
A unique amino acid sequence of a k-chain obtained from a patient with adult Fanconi syndrome: a new subset sequence. (413788)
1977
40
Replication bypass model of sister chromatid exchanges and implications for Bloom's syndrome and Fanconi's anemia. (598828)
1977
41
Adult Fanconi syndrome, amyloidosis and marked kappa-light chain proteinuria. (4571924)
1973
42
Experimental Fanconi syndrome. I. Effect of maleic acid on renal cortical Na-K-ATPase activity and ATP levels. (4249038)
1970
43
ADULT FANCONI SYNDROME. (14227575)
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
Fanconi syndrome (adult type) developing secondary to the ingestion of outdated tetracycline. (13950771)
1963
47
Aminoaciduria in an elderly man with the nephrotic syndrome and in a young man with a variant of the Fanconi syndrome. (13887293)
1962
48
Metabolic studies of renal osteodystrophy. I. Calcium, phosphorus and nitrogen metabolism in rickets, osteomalacia and hyperparathyroidism complicating chronic uremia and in the osteomalacia of the adult Fanconi syndrome. (13916186)
1962
49
Fanconi syndrome in two siblings. (14957879)
1952
50
Congenital hypoplastic anemia associated with multiple developmental defects (Fanconi syndrome). (20278337)
1947

Genetic Variations for Fanconi Syndrome

Expression for genes affiliated with Fanconi Syndrome

Sources:
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

Sources:
54Reactome, 30KEGG
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Compounds for genes affiliated with Fanconi Syndrome

Sources:
45Novoseek, 11DrugBank, 24HMDB, 50PharmGKB
See all sources

Compounds related to Fanconi Syndrome according to GeneCards/GeneDecks:

(show all 33)
idCompoundScoreTop Affiliating Genes
199mtc-dmsa4510.4AMBP, NAGLU
2amikacin4510.4AMBP, NAGLU
3iohexol4510.3AMBP, NAGLU
4inulin4510.3AMBP, NAGLU
5calcium oxalate4510.3NAGLU, AMBP
6dmsa4510.3ALAD, NAGLU, AMBP
7trichloroethylene4510.2ALAD, NAGLU, AMBP
8ulinastatin4510.2NAGLU, AMBP
9c-peptide4510.2SLC2A2, NAGLU, HNF1A
10monosaccharide4510.1SLC2A6, SLC2A2
11fluoride4510.1NAGLU, ARHGAP1, CTSD
12fructose45 1111.1NAGLU, SLC2A6, SLC2A2, ALAD
13malondialdehyde4510.1OGDH, NAGLU, ALAD
14uric acid45 2411.1AMBP, NAGLU, AVP, ALAD
15cadmium45 2411.0HNF1A, AMBP, NAGLU, ALAD
16latex4510.0NAGLU, CTSD, AMBP
17lead4510.0AMBP, NAGLU, ALAD
18chloride4510.0OCRL, CLCN4, CLCN5, AVP
19proline459.9HNF1A, PHKA2, AVP, SLC2A6, SLC2A2
20potassium45 11 2411.8HNF1A, AMBP, NAGLU, SLC2A2, ALAD
21pyruvate459.8HNF1A, OGDH, CTSD, PHKA2, SLC2A2
22citrate459.7SLC2A6, NAGLU, OGDH
23leucine459.7HNF1A, AMBP, CTSD, NAGLU, SLC2A2
24sodium45 2410.7AMBP, NAGLU, AVP, SLC7A7, SLC17A1, SLC2A2
25glycogen45 2410.7OGDH, PHKA2, NEK3, SLC2A2
26gold459.7NAGLU, CTSD, OGDH
27h2o2459.7OGDH, CTSD, NAGLU, CLCN5, SLC2A2
28sialic acid459.6AMBP, CTNS, NAGLU
29lactate459.6AMBP, OGDH, CTSD, NEK3, NAGLU, ALAD
30steroid459.6AVP, NAGLU, CTSD, AMBP, HNF1A
31calcium45 50 11 2412.1AMBP, OGDH, CTSD, PHKA2, NEK3, NAGLU
32glucose459.0HNF1A, AMBP, OGDH, CTSD, PHKA2, NAGLU
33creatinine458.9ALAD, HNF1A, AMBP, OGDH, CTSD, NEK3

GO Terms for genes affiliated with Fanconi Syndrome

Sources:
16Gene Ontology
See all sources

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

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Fanconi Syndrome

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet