MCID: FNC004
MIFTS: 50

Fanconi Syndrome

Categories: Nephrological diseases, Rare diseases

Aliases & Classifications for Fanconi Syndrome

MalaCards integrated aliases for Fanconi Syndrome:

Name: Fanconi Syndrome 12 76 53 29 44 15 73
De Toni-Fanconi Syndrome 12 53
Adult Fanconi Syndrome 12 73
Cystinosis, Infantile Nephropathic 73
Infantile Nephropathic Cystinosis 12
De Toni-Debre-Fanconi Syndrome 73
Congenital Fanconi Syndrome 12
Toni-Debre-Fanconi Syndrome 53
Fanconi-De Toni Syndrome 12
Fanconi-De-Toni Syndrome 12
Fanconi-Bickel Syndrome 73
Detoni Fanconi Syndrome 12
Lignac-Fanconi Syndrome 12
Adult Fanconi Anemia 12
Fanconi Anemia 73

Classifications:



External Ids:

Disease Ontology 12 DOID:1062
MeSH 44 D005198
NCIt 50 C3034 C4377
SNOMED-CT 68 40488004 44673006

Summaries for Fanconi Syndrome

Disease Ontology : 12 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 de toni-fanconi syndrome, is related to primary fanconi syndrome and dent disease 1. An important gene associated with Fanconi Syndrome is HNF4A (Hepatocyte Nuclear Factor 4 Alpha), and among its related pathways/superpathways are Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds and HIF1Alpha Pathway. The drugs Acetylcysteine and Antiviral Agents have been mentioned in the context of this disorder. Affiliated tissues include kidney, bone and liver, and related phenotypes are growth/size/body region and homeostasis/metabolism

Wikipedia : 76 Fanconi syndrome or Fanconi''s syndrome (English: /f�?ːn�?ko�?ni/, /fæn-/) is a syndrome of inadequate... more...

Related Diseases for Fanconi Syndrome

Diseases in the Fanconi Syndrome family:

Fanconi-Like Syndrome Primary Fanconi Syndrome

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

(show top 50) (show all 145)
# Related Disease Score Top Affiliating Genes
1 primary fanconi syndrome 33.5 EHHADH SLC34A1
2 dent disease 1 32.6 CLCN5 CUBN LRP2 OCRL
3 cystinosis 32.2 CTNS CUBN LRP2
4 lowe oculocerebrorenal syndrome 31.4 CLCN5 LRP2 OCRL
5 hypophosphatemic rickets, x-linked recessive 29.9 CLCN5 SLC34A1
6 hypophosphatemia 29.8 CLCN5 SLC34A1
7 nephrolithiasis 29.8 CLCN5 LRP2 SLC34A1
8 nephrolithiasis, calcium oxalate 29.6 CLCN5 SLC34A1
9 aminoaciduria 29.5 CLCN5 EHHADH HNF4A OCRL SLC34A1
10 nephrocalcinosis 29.3 CLCN5 LRP2 OCRL SLC34A1
11 acquired monoclonal ig light chain-associated fanconi syndrome 12.1
12 wissler's syndrome 11.5
13 fanconi anemia, complementation group a 11.5
14 fanconi renotubular syndrome 1 11.3
15 fanconi-bickel syndrome 11.3
16 cystinosis, nephropathic 11.3
17 fanconi renotubular syndrome 4 with maturity-onset diabetes of the young 11.1
18 arthrogryposis, renal dysfunction, and cholestasis 1 10.9
19 dent disease 2 10.9
20 adult-onset still's disease 10.9
21 osteomalacia 10.4
22 hepatitis 10.3
23 hepatitis b 10.2
24 myeloma, multiple 10.2
25 renal tubular acidosis 10.2
26 rickets 10.2
27 diabetes insipidus 10.2
28 renal tubular transport disease 10.1 CLCN5 OCRL
29 fanconi-like syndrome 10.1 CUBN LRP2
30 diabetes insipidus, nephrogenic, autosomal 10.1
31 interstitial nephritis 10.1
32 donnai-barrow syndrome 10.1 CUBN LRP2
33 x-linked recessive disease 10.0 CLCN5 OCRL
34 renal tubular acidosis, proximal 10.0
35 biliary cirrhosis, primary, 1 10.0
36 primary biliary cirrhosis 10.0
37 uveitis 10.0
38 hyperparathyroidism 10.0
39 kidney disease 10.0
40 primary biliary cholangitis 10.0
41 3-methylglutaconic aciduria, type i 9.9 CUBN EHHADH
42 cystinuria 9.9
43 kearns-sayre syndrome 9.9
44 leukemia 9.9
45 nephrotic syndrome 9.9
46 histiocytosis 9.9
47 myopathy 9.9
48 pneumonia 9.9
49 monoclonal gammopathy of uncertain significance 9.9
50 lysinuric protein intolerance 9.8

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



Diseases related to Fanconi Syndrome

Symptoms & Phenotypes for Fanconi Syndrome

MGI Mouse Phenotypes related to Fanconi Syndrome:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 9.85 CLCN5 CUBN EHHADH HNF4A LRP2 MYO5B
2 homeostasis/metabolism MP:0005376 9.65 CLCN5 CTNS CUBN EHHADH HNF4A LRP2
3 renal/urinary system MP:0005367 9.1 CLCN5 CTNS CUBN LRP2 OCRL SLC34A1

Drugs & Therapeutics for Fanconi Syndrome

Drugs for Fanconi Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 131)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Acetylcysteine Approved, Investigational Phase 4 616-91-1 12035
2 Antiviral Agents Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable,Early Phase 1
3 Anti-Infective Agents Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable,Early Phase 1
4 Protective Agents Phase 4,Phase 2,Phase 1,Not Applicable
5 Free Radical Scavengers Phase 4
6 Antioxidants Phase 4,Phase 2,Phase 1
7 Expectorants Phase 4
8 Respiratory System Agents Phase 4
9 Antidotes Phase 4
10 cysteine Phase 4
11 N-monoacetylcystine Phase 4
12
Vidarabine Approved, Investigational Phase 2, Phase 3,Phase 1,Not Applicable,Early Phase 1 24356-66-9 32326 21704
13
alemtuzumab Approved, Investigational Phase 2, Phase 3,Phase 1 216503-57-0
14
Cyclophosphamide Approved, Investigational Phase 2, Phase 3,Phase 3,Phase 1,Not Applicable,Early Phase 1 6055-19-2, 50-18-0 2907
15
Busulfan Approved, Investigational Phase 2, Phase 3,Phase 1,Early Phase 1,Not Applicable 55-98-1 2478
16
Fludarabine Approved Phase 2, Phase 3,Phase 3,Phase 1,Not Applicable,Early Phase 1 75607-67-9, 21679-14-1 30751
17
Cysteamine Approved, Investigational Phase 3,Phase 1,Phase 2,Not Applicable 60-23-1 6058
18
Mycophenolic acid Approved Phase 2, Phase 3,Phase 1,Not Applicable 24280-93-1 446541
19
Miconazole Approved, Investigational, Vet_approved Phase 2, Phase 3,Phase 1,Not Applicable 22916-47-8 4189
20
Everolimus Approved Phase 2, Phase 3 159351-69-6 6442177
21
Sirolimus Approved, Investigational Phase 2, Phase 3 53123-88-9 46835353 6436030 5284616
22 Immunologic Factors Phase 2, Phase 3,Phase 3,Phase 1,Not Applicable,Early Phase 1
23 Antineoplastic Agents, Alkylating Phase 2, Phase 3,Phase 3,Phase 1,Not Applicable,Early Phase 1
24 Antirheumatic Agents Phase 2, Phase 3,Phase 3,Phase 1,Not Applicable,Early Phase 1
25 Alkylating Agents Phase 2, Phase 3,Phase 3,Phase 1,Not Applicable,Early Phase 1
26 Antimetabolites Phase 2, Phase 3,Phase 3,Phase 1,Not Applicable,Early Phase 1
27 Immunosuppressive Agents Phase 2, Phase 3,Phase 3,Phase 1,Not Applicable,Early Phase 1
28 Antimetabolites, Antineoplastic Phase 2, Phase 3,Phase 3,Phase 1,Not Applicable,Early Phase 1
29 Antitubercular Agents Phase 2, Phase 3,Phase 1,Not Applicable
30 Antibiotics, Antitubercular Phase 2, Phase 3,Phase 1,Not Applicable
31 Antifungal Agents Phase 2, Phase 3,Phase 1,Not Applicable
32 Anti-Bacterial Agents Phase 2, Phase 3,Phase 1,Not Applicable
33
Lenograstim Approved, Investigational Phase 2,Phase 1,Not Applicable 135968-09-1
34
Methylprednisolone Approved, Vet_approved Phase 2,Phase 1,Not Applicable 83-43-2 6741
35
Prednisolone Approved, Vet_approved Phase 2,Phase 1,Not Applicable 50-24-8 5755
36
Methylprednisolone hemisuccinate Approved Phase 2,Phase 1,Not Applicable 2921-57-5
37
Melphalan Approved Phase 2,Phase 1,Not Applicable 148-82-3 4053 460612
38
Prednisolone phosphate Approved, Vet_approved Phase 2,Phase 1,Not Applicable 302-25-0
39
Iron Approved Phase 2 7439-89-6 23925
40
Deferoxamine Approved, Investigational Phase 2 70-51-9 2973
41
Deferasirox Approved, Investigational Phase 2 201530-41-8 5493381
42
Bortezomib Approved, Investigational Phase 2 179324-69-7 387447 93860
43
Thiotepa Approved, Investigational Phase 2,Phase 1 52-24-4 5453
44
Tacrolimus Approved, Investigational Phase 2,Phase 1 104987-11-3 445643 439492
45
Dopamine Approved Phase 2 51-61-6, 62-31-7 681
46
Methamphetamine Approved, Illicit Phase 2 537-46-2 10836
47
Deferiprone Approved Phase 2 30652-11-0 2972
48
Metformin Approved Phase 2 657-24-9 14219 4091
49 Talazoparib Approved, Investigational Phase 2 1207456-01-6
50
Gemcitabine Approved Phase 1, Phase 2 95058-81-4 60750

Interventional clinical trials:

(show top 50) (show all 100)
# Name Status NCT ID Phase Drugs
1 N Acetyl Cysteine for Cystinosis Patients Completed NCT01614431 Phase 4 N acetyl cysteine;N acetyl cysteine
2 Risk-Adapted Allogeneic Stem Cell Transplantation For Mixed Donor Chimerism In Patients With Non-Malignant Diseases Unknown status NCT01019876 Phase 2, Phase 3 Fludarabine;Cyclophosphamide;Cyclophosphamide 40;Cyclophosphamide 30
3 Phase 3 Study of Cysteamine Bitartrate Delayed-release (RP103) Compared to Cystagon® in Patients With Cystinosis Completed NCT01000961 Phase 3 Cystagon® (Cysteamine Bitartrate);Cysteamine Bitartrate Delayed-release Capsules (RP103)
4 Safety/Effectiveness Study of Cysteamine Bitartrate Delayed-release Capsules (RP103) in Cysteamine Treatment Naive Patients With Cystinosis Completed NCT01744782 Phase 3 RP103
5 Open-Label, Safety and Superior Effectiveness Study of Cysteamine Bitartrate Delayed-Release Capsules (RP103) in Cystinosis Completed NCT01733316 Phase 3 RP103;Cystagon®
6 Long-Term Safety Follow-up Study of Cysteamine Bitartrate Delayed-release Capsules (RP103) Completed NCT01197378 Phase 3 Cysteamine Bitartrate Delayed-release Capsules
7 TBI Dose De-escalation for Fanconi Anemia Recruiting NCT00352976 Phase 2, Phase 3 Cyclophosphamide;Fludarabine;Mycophenolate Mofetil;Sirolimus
8 Clinical Phase II Trial to Evaluate CD34+ Cells Mobilization and Collection in Patients With Fanconi Anemia for Subsequent Transduction With a Lentiviral Vector Carring FANCA Gene. FANCOSTEM-1 Unknown status NCT02931071 Phase 2 filgrastim;plerixafor
9 Umbilical Cord Blood for Stem Cell Transplantation in Treating Young Patients With Malignant or Nonmalignant Diseases Unknown status NCT00084695 Phase 2 busulfan;cyclophosphamide;fludarabine phosphate;melphalan;methylprednisolone
10 Multicenter Transplant Study for Fanconi Anemia Completed NCT01082133 Phase 2 Chemotherapy
11 Hematopoietic Stem Cell Transplant for Fanconi Anemia Completed NCT01071239 Phase 2 Busulfan;Fludarabine;Cyclophosphamide;ATG
12 Mobilization and Collection of Peripheral Blood Stem Cells in Patients With Fanconi Anemia Using G-CSF and AMD3100 Completed NCT00479115 Phase 1, Phase 2 AMD3100
13 Hematopoietic Stem Cell Transplantation for the Treatment of Patients With Fanconi Anemia Lacking a Genotypically Identical Donor, Using a Chemotherapy Only Cytoreduction With Busulfan, Cyclophosphamide and Fludarabine Completed NCT00987480 Phase 2 Busulfan, fludarabine, & cyclophosphamide with immunosuppression with ATG and cyclosporine.
14 Phase I/II Study of Total Body Irradiation, Cyclophosphamide, and Fludarabine Followed by Alternate Donor Hematopoietic Cell Transplantation in Patients With Fanconi's Anemia Completed NCT00005898 Phase 1, Phase 2 anti-thymocyte globulin;cyclophosphamide;cyclosporine;filgrastim;fludarabine;methylprednisolone
15 Pilot Study of Safety, Tolerability, Pharmacokinetics/Pharmacodynamics of RP103 Compared to Cystagon® in Patients With Cystinosis Completed NCT00872729 Phase 1, Phase 2 Cystagon®;RP103
16 Study of Deferasirox in Iron Overload From Beta-thalassemia Unable to be Treated With Deferoxamine or Chronic Anemias Completed NCT00061763 Phase 2 Deferasirox
17 Medical Treatment for Diamond Blackfan Anemia Completed NCT00001749 Phase 2 Antithymocyte globulin;Cyclosporine
18 Phase II Pilot Study of Granulocyte Colony-Stimulating Factor for Inherited Bone Marrow Failure Syndromes Completed NCT00004787 Phase 2 filgrastim
19 Bortezomib Followed by High-Dose Melphalan and Bortezomib as Conditioning Regimen for Tandem Stem Cell Transplants Completed NCT00307086 Phase 2 Bortezomib;Melphalan
20 Busulfan, Antithymocyte Globulin, and Fludarabine Followed By a Donor Stem Cell Transplant in Treating Young Patients With Blood Disorders, Bone Marrow Disorders, Chronic Myelogenous Leukemia in First Chronic Phase, or Acute Myeloid Leukemia in First Remission Completed NCT00305708 Phase 1, Phase 2 busulfan;fludarabine phosphate
21 Cord Blood Stem Cell Transplantation Study (COBLT) Completed NCT00000603 Phase 2
22 CD34+Selection for Partially Matched Family or Matched Unrelated Adult Donor Transplant Completed NCT01049854 Phase 2 Full Intensity with TBI;Full Intensity;Reduced Intensity;Reduced Intensity (Fanconi)
23 Cysteamine Eye Drops to Treat Corneal Crystals in Cystinosis Completed NCT00001213 Phase 2 Cysteamine
24 A Protocol to Allow Treatment With ICL670 for Patients With or at Risk of Life-threatening Complications of Transfusional Iron Overload Who Are Unable to Tolerate Other Iron Chelators Because of Documented Severe Toxicity Completed NCT01044186 Phase 2 ICL670
25 Hematopoietic Stem Cell Transplantation in High Risk Patients With Fanconi Anemia Recruiting NCT00258427 Phase 2 busulfan;cyclophosphamide;fludarabine phosphate;methylprednisolone
26 Mobilization and Collection of Peripheral Blood Stem Cells in Patients With Fanconi Anemia Using G-CSF and Plerixafor Recruiting NCT02678533 Phase 1, Phase 2 G-CSF;Plerixafor
27 Pilot Study of Metformin for Patients With Fanconi Anemia Recruiting NCT03398824 Phase 2 metformin HCl
28 Cytoxan, Fludara, and Antithymocyte Globulin Conditioning Followed By Stem Cell Transplant in Treating Fanconi Anemia Recruiting NCT00630253 Phase 1, Phase 2 Cyclophosphamide;Fludarabine;Methylprednisolone;Filgrastim;Cyclosporine;Mycophenolate Mofetil
29 Eltrombopag for People With Fanconi Anemia Recruiting NCT03206086 Phase 2 Eltrombopag
30 Quercetin Chemoprevention for Squamous Cell Carcinoma in Patients With Fanconi Anemia Recruiting NCT03476330 Phase 2 Quercetin (dietary supplement)
31 T Cell Receptor α/β TCD HCT in Patients With Fanconi Anemia Recruiting NCT03579875 Phase 2 Total Body Irradiation (TBI) (Plan 1);Cyclophosphamide (CY) (Plan 1);Fludarabine (FLU);Methylprednisolone (MP);G-CSF;Cyclophosphamide (CY) (Plan 2)
32 Lentiviral-mediated Gene Therapy of Fanconi Anemia Patients Subtype A Recruiting NCT03157804 Phase 1, Phase 2 Plerixafor
33 HSCT for Patients With Fanconi Anemia Using Risk-Adjusted Chemotherapy Recruiting NCT02143830 Phase 2 Busulfan;Cyclophosphamide;Fludarabine;rabbit ATG;G-CSF
34 A Study of the Effect of Blood Stem Cell Transplant After Chemotherapy Alone in Patients With Fanconi Anemia Recruiting NCT03600909 Phase 2 Busulfan;Fludarabine;Cyclophosphamide;Anti-Thymocyte Globulin (Rabbit);G-CSF
35 Phase II Talazoparib in BRCA1 +BRCA2 Wild-Type &Triple-Neg /HER2-Negative Breast Cancer /SolidTumors Recruiting NCT02401347 Phase 2 Talazoparib Tosylate
36 A Study of LY2606368 (Prexasertib) in Patients With Solid Tumors With Replicative Stress or Homologous Repair Deficiency Recruiting NCT02873975 Phase 2 LY2606368
37 A Phase 1/2 Trial of SRA737 in Combination With Gemcitabine Plus Cisplatin or Gemcitabine Alone in Subjects With Advanced Cancer Recruiting NCT02797977 Phase 1, Phase 2 SRA737, gemcitabine, cisplatin;SRA737, gemcitabine
38 A Phase 1/2 Trial of SRA737 in Subjects With Advanced Cancer Recruiting NCT02797964 Phase 1, Phase 2 SRA737
39 Study of the PARP Inhibitor BMN 673 in Advanced Cancer Patients With Somatic Alterations in BRCA1/2, Mutations/Deletions in PTEN or PTEN Loss, a Homologous Recombination Defect, Mutations/Deletions in Other BRCA Pathway Genes and Germline Mutation in BRCA1/2 (Not Breast or Ovarian Cancer) Recruiting NCT02286687 Phase 2 Talazoparib Tosylate
40 Fludarabine Phosphate, Cyclophosphamide, and Total-Body Irradiation Followed by Donor Bone Marrow Transplant, Mycophenolate Mofetil, and Cyclosporine in Treating Patients With Fanconi Anemia Active, not recruiting NCT00453388 Phase 2 Cyclophosphamide;Cyclosporine;Fludarabine Phosphate;Mycophenolate Mofetil
41 Safety Study of Gene Modified Donor T-cells Following TCR Alpha Beta Depleted Stem Cell Transplant Active, not recruiting NCT02065869 Phase 1, Phase 2 rimiducid
42 Long Term Follow-up Study for Patients Enrolled on the BP-004 Clinical Study Enrolling by invitation NCT03733249 Phase 1, Phase 2 Rimiducid
43 Safety and Efficacy Trial of Danazol in Patients With Fanconi Anemia or Dyskeratosis Congenita Terminated NCT01001598 Phase 1, Phase 2 danazol
44 Stem Cell Transplantation for Fanconi Anemia Terminated NCT00167206 Phase 1, Phase 2 Cyclophosphamide, Fludarabine
45 Antibody Conditioning Regimen For Allogeneic Donor Stem Cell Transplantation Of Patients With Fanconi Anemia Terminated NCT00590460 Phase 1, Phase 2 Fludarabine
46 Stem Cell Transplant for Hematologic Diseases Terminated NCT00058825 Phase 1, Phase 2 Fludarabine;FK506 (Tacrolimus) or Cyclosporine
47 Double Cord Blood Transplantation Terminated NCT00801931 Phase 1, Phase 2 TBI, Thiotepa, Cyclophosphamide, ATG;Busulfan, Melphalan, Rabbit ATG;Busulfan, Fludarabine, Alemtuzumab;Busulfan, Fludarabine, Rabbit ATG;Fludarabine, Cyclophosphamide, ATG;Busulfan, Cyclosphosphamide, Rabbit ATG,
48 Phase I Study of Amifostine in Patients With Bone Marrow Failure Related to Fanconi's Anemia Unknown status NCT00006127 Phase 1 amifostine
49 Phase I Pilot Study of CD34 Enriched, Fanconi's Anemia Complementation Group C Gene Transduced Autologous Peripheral Blood Stem Cell Transplantation in Patients With Fanconi's Anemia Unknown status NCT00005896 Phase 1 filgrastim
50 Oxandrolone for the Treatment of Bone Marrow Aplasia in Fanconi Anemia Completed NCT00243399 Phase 1 Oxandrolone

Search NIH Clinical Center for Fanconi Syndrome

Cochrane evidence based reviews: fanconi syndrome

Genetic Tests for Fanconi Syndrome

Genetic tests related to Fanconi Syndrome:

# Genetic test Affiliating Genes
1 Fanconi Syndrome 29

Anatomical Context for Fanconi Syndrome

MalaCards organs/tissues related to Fanconi Syndrome:

41
Kidney, Bone, Liver, Thyroid, Myeloid, T Cells, B Cells

Publications for Fanconi Syndrome

Articles related to Fanconi Syndrome:

(show top 50) (show all 534)
# Title Authors Year
1
Fanconi Syndrome. ( 30454741 )
2019
2
Acute Lymphoblastic Leukemia Presenting as Fanconi Syndrome. ( 29515412 )
2018
3
Legionella Pneumonia Complicated with Acquired Fanconi Syndrome: A Case Report. ( 29877286 )
2018
4
Glycine Amidinotransferase (GATM), Renal Fanconi Syndrome, and Kidney Failure. ( 29654216 )
2018
5
Osteomalacia, renal Fanconi syndrome, and bone tumor. ( 29614898 )
2018
6
Hypophosphatemia in a Malnourished Child: When Renal Fanconi Syndrome Does Not Stand for Refeeding Syndrome. ( 29746006 )
2018
7
Glucosuria without diabetes: key to the diagnosis of fragility fractures due to Fanconi syndrome. ( 29735496 )
2018
8
Heavy-Chain Diseases and Myeloma-Associated Fanconi Syndrome: an Update. ( 29326807 )
2018
9
Sodium valproate-induced Fanconi syndrome in two severely disabled patients receiving carnitine supplementation. ( 29679355 )
2018
10
Renal Fanconi syndrome with meropenem-containing regimen in drug-resistant tuberculosis. ( 29567720 )
2018
11
Fanconi Syndrome in Irish Wolfhound Siblings. ( 29558216 )
2018
12
Osteomalacia Due to Drug-Induced Fanconi Syndrome. ( 29575761 )
2018
13
Fanconi syndrome associated with SGLT2 inhibitor, canagliflozin. ( 29696765 )
2018
14
HNF4A-related Fanconi syndrome in a Chinese patient: a case report and review of the literature. ( 30005691 )
2018
15
Severe hypophosphatemia induced by denosumab in a patient with osteomalacia and tenofovir disoproxil fumarate-related acquired Fanconi syndrome. ( 30171299 )
2018
16
Acquired Fanconi syndrome secondary to light chain deposition disease associated with monoclonal gammopathy of renal significance: A case report. ( 30200082 )
2018
17
Fanconi syndrome due to tenofovir disoproxil fumarate reversed by switching to tenofovir alafenamide fumarate in an HIV-infected patient. ( 30224952 )
2018
18
Two cases of reversible Fanconi syndrome induced by lenalidomide. ( 30277123 )
2018
19
A Case of Hypophosphatemic Osteomalacia Associated with Adefovir-induced Fanconi Syndrome Initially Diagnosed as Diabetic Kidney Disease and Vitamin D Deficiency. ( 30333420 )
2018
20
TINU-associated Fanconi syndrome: a case report and review of literature. ( 30340545 )
2018
21
Bortezomib-based chemotherapy can improve renal and tubular functions in patients with light chain-associated Fanconi syndrome. ( 30511139 )
2018
22
Anesthetic challenges in a child with Lowe's and Fanconi syndrome. ( 30532329 )
2018
23
Hyperinsulinaemic hypoglycaemia, renal Fanconi syndrome and liver disease due to a mutation in the HNF4A gene. ( 28458902 )
2017
24
The renal Fanconi syndrome in cystinosis: pathogenic insights and therapeutic perspectives. ( 27990015 )
2017
25
Long-term adefovir therapy may induce Fanconi syndrome: A report of four cases. ( 28672949 )
2017
26
Short Communication: Resolution of Tenofovir Disoproxil Fumarate Induced Fanconi Syndrome with Switch to Tenofovir Alafenamide Fumarate in a HIV-1 and Hepatitis B Coinfected Patient. ( 28403627 )
2017
27
Endocytic receptor LRP2/megalin-of holoprosencephaly and renal Fanconi syndrome. ( 28497274 )
2017
28
Free light chain-associated Fanconi syndrome in an adolescent. ( 29205674 )
2017
29
Fainting Fanconi syndrome clarified by proxy: a case report. ( 28693455 )
2017
30
Early Onset of Tenofovir-Related Fanconi Syndrome in a Child with Acute Hepatitis B: A Case Report and Systematic Review of Literature. ( 29270324 )
2017
31
Renal Fanconi syndrome in distal renal tubular acidosis. ( 28293727 )
2017
32
Aminoaciduria Caused by Fanconi Syndrome in a Heifer. ( 28109116 )
2017
33
Intraretinal Crystals in Nephopathic Cystinosis and Fanconi Syndrome. ( 28278342 )
2017
34
Nephrolithiasis and Osteomalacia associated with adefovir-induced Fanconi syndrome in a patient with hepatitis B. ( 28851305 )
2017
35
The Mechanism of Valproic Acid-Induced Fanconi Syndrome Involves Mitochondrial Dysfunction and Oxidative Stress in Rat Kidney. ( 28141910 )
2017
36
Pathologic femoral fracture due to tenofovir-induced Fanconi syndrome in patient with chronic hepatitis B: A case report. ( 29145330 )
2017
37
Tenofovir alafenamide as a Rescue Therapy in a Cirrhotic HBV Patient with a Hystory of Fanconi Syndrome and Multidrug Resistance: A Case Report. ( 28870666 )
2017
38
Fanconi syndrome and neonatal diabetes: phenotypic heterogeneity in patients with GLUT2 defects. ( 29116606 )
2017
39
Transient Fanconi syndrome in two preterm infants with hydronephrosis and urinary tract infection. ( 28509132 )
2017
40
Growth hormone therapy for a patient with idiopathic Fanconi syndrome and growth hormone deficiency. ( 28509131 )
2017
41
Adefovir dipivoxil-induced Fanconi syndrome and its predictive factors: A study of 28 cases. ( 28123560 )
2017
42
Concomitant AIDS cholangiopathy and Fanconi syndrome as complications of HIV in a single patient. ( 29167218 )
2017
43
A case of Fanconi syndrome due to a deferasirox overdose and a trial of plasmapheresis. ( 28556939 )
2017
44
Renal Fanconi syndrome with meropenem/amoxicillin-clavulanate during treatment of extensively drug-resistant tuberculosis. ( 29284688 )
2017
45
Fanconi syndrome in the adulthood. The role of early diagnosis and treatment. ( 29199190 )
2017
46
Kidney failure caused by tubular intersticial intersticial nephropathy with Fanconi syndrome after treatment with zoledronic acid. ( 29122217 )
2017
47
Incidence of renal Fanconi syndrome in patients taking antiretroviral therapy including tenofovir disoproxil fumarate. ( 28764611 )
2017
48
Proximal Renal Tubular Acidosis (Fanconi syndrome) Induced by Apremilast: A Case Report. ( 28823583 )
2017
49
Adefovir-induced Fanconi syndrome associated with osteomalacia. ( 28859264 )
2017
50
Ectopic germinal center and megalin defect in primary Sjogren syndrome with renal Fanconi syndrome. ( 28577559 )
2017

Variations for Fanconi Syndrome

Expression for Fanconi Syndrome

Search GEO for disease gene expression data for Fanconi Syndrome.

Pathways for Fanconi Syndrome

GO Terms for Fanconi Syndrome

Cellular components related to Fanconi Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 apical plasma membrane GO:0016324 9.71 CUBN LRP2 SLC2A2 SLC34A1
2 endosome GO:0005768 9.65 CLCN5 CUBN LRP2 OCRL SLC34A1
3 early endosome GO:0005769 9.63 CLCN5 CTNS OCRL
4 lysosomal membrane GO:0005765 9.62 CLCN5 CTNS CUBN LRP2
5 apical part of cell GO:0045177 9.54 CLCN5 CUBN LRP2
6 endocytic vesicle GO:0030139 9.48 CUBN LRP2
7 Golgi-associated vesicle GO:0005798 9.43 CUBN OCRL
8 clathrin-coated pit GO:0005905 9.33 CUBN LRP2 OCRL
9 brush border membrane GO:0031526 9.13 CUBN LRP2 SLC34A1
10 brush border GO:0005903 8.92 CUBN LRP2 SLC2A2 SLC34A1

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

# Name GO ID Score Top Affiliating Genes
1 response to cadmium ion GO:0046686 9.4 ALAD SLC34A1
2 lipoprotein transport GO:0042953 9.37 CUBN LRP2
3 response to nutrient GO:0007584 9.33 ALAD CUBN SLC34A1
4 response to lead ion GO:0010288 9.32 ALAD SLC34A1
5 vitamin D metabolic process GO:0042359 9.26 CUBN LRP2
6 lipid metabolic process GO:0006629 9.02 CUBN EHHADH HNF4A LRP2 OCRL
7 response to mercury ion GO:0046689 8.96 ALAD SLC34A1

Sources for Fanconi Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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