MCID: FNC004
MIFTS: 48

Fanconi Syndrome

Categories: Nephrological diseases, Rare diseases

Aliases & Classifications for Fanconi Syndrome

MalaCards integrated aliases for Fanconi Syndrome:

Name: Fanconi Syndrome 12 75 53 29 44 15 72
De Toni-Fanconi Syndrome 12 53
Adult Fanconi Syndrome 12 72
Cystinosis, Infantile Nephropathic 72
Infantile Nephropathic Cystinosis 12
De Toni-Debre-Fanconi Syndrome 72
Congenital Fanconi Syndrome 12
Toni-Debre-Fanconi Syndrome 53
Fanconi-De Toni Syndrome 12
Fanconi-De-Toni Syndrome 12
Fanconi-Bickel Syndrome 72
Detoni Fanconi Syndrome 12
Lignac-Fanconi Syndrome 12
Adult Fanconi Anemia 12
Fanconi Anemia 72

Classifications:



External Ids:

Disease Ontology 12 DOID:1062
MeSH 44 D005198
NCIt 50 C3034 C4377
SNOMED-CT 68 40488004 44673006
UMLS 72 C0015624 C0015625 C0341703 more

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 lowe oculocerebrorenal syndrome. An important gene associated with Fanconi Syndrome is HNF4A (Hepatocyte Nuclear Factor 4 Alpha), and among its related pathways/superpathways are Selenium Micronutrient Network and Hepatic ABC Transporters. The drugs Cysteamine and Fludarabine have been mentioned in the context of this disorder. Affiliated tissues include kidney, bone and bone marrow, and related phenotypes are Reduced mammosphere formation and growth/size/body region

Wikipedia : 75 Fanconi syndrome or Fanconi's syndrome (English: /f??n'ko?ni/, /fan-/) 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 328)
# Related Disease Score Top Affiliating Genes
1 primary fanconi syndrome 33.8 SLC34A1 EHHADH
2 lowe oculocerebrorenal syndrome 32.9 OCRL LRP2 CLCN5
3 cystinosis 32.9 LRP2 CUBN CTNS
4 dent disease 1 32.9 OCRL LRP2 CUBN CLCN5
5 hypophosphatemia 30.9 SLC34A1 PTH CLCN5
6 rickets 30.7 SLC34A1 PTH CLCN5
7 hypophosphatemic rickets, x-linked recessive 30.5 SLC34A1 CLCN5
8 nephrolithiasis, calcium oxalate 30.4 SLC34A1 CLCN5
9 donnai-barrow syndrome 30.0 LRP2 CUBN
10 aminoaciduria 29.8 SLC34A1 OCRL HNF4A EHHADH CLCN5
11 secondary hyperparathyroidism of renal origin 29.6 PTH ALB
12 nephrocalcinosis 28.7 SLC34A1 PTH OCRL LRP2 CLCN5 ALB
13 acquired monoclonal ig light chain-associated fanconi syndrome 12.3
14 atypical fanconi syndrome-neonatal hyperinsulinism syndrome 12.1
15 fanconi renotubular syndrome 1 11.8
16 fanconi-bickel syndrome 11.8
17 fanconi anemia, complementation group a 11.7
18 fanconi renotubular syndrome 4 with maturity-onset diabetes of the young 11.6
19 cystinosis, nephropathic 11.4
20 adult-onset still's disease 11.4
21 arthrogryposis, renal dysfunction, and cholestasis 1 11.1
22 dent disease 2 11.1
23 wissler's syndrome 11.1
24 osteomalacia 10.6
25 metabolic acidosis 10.5
26 renal tubular acidosis 10.5
27 hypokalemia 10.5
28 renal tubular transport disease 10.4 OCRL CLCN5
29 myeloma, multiple 10.4
30 kidney disease 10.4
31 fanconi-like syndrome 10.4 LRP2 CUBN
32 renal glucosuria 10.3
33 hepatoid adenocarcinoma 10.3 HNF4A ALB
34 hepatitis b 10.3
35 acute kidney failure 10.3
36 renal tubular acidosis, proximal 10.3
37 interstitial nephritis 10.3
38 hypophosphatemic rickets, x-linked dominant 10.3 SLC34A1 PTH
39 bone disease 10.3
40 pulmonary alveolar microlithiasis 10.2 SLC34A1 PTH
41 chronic kidney disease 10.2
42 phosphorus metabolism disease 10.2 SLC34A1 PTH
43 glycogen storage disease 10.2
44 deficiency anemia 10.2
45 diabetes insipidus 10.2
46 hand skill, relative 10.2
47 corneal dystrophy, band-shaped 10.2
48 pre-eclampsia 10.2
49 portal hypertension 10.2
50 corneal neovascularization 10.2

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



Diseases related to Fanconi Syndrome

Symptoms & Phenotypes for Fanconi Syndrome

GenomeRNAi Phenotypes related to Fanconi Syndrome according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Reduced mammosphere formation GR00396-S 9.02 ALAD ALB HNF4A LRP2 SLC34A1

MGI Mouse Phenotypes related to Fanconi Syndrome:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 9.96 CLCN5 CUBN EHHADH HNF4A LRP2 NDUFAF6
2 cellular MP:0005384 9.92 ALB CLCN5 CTNS EHHADH HNF4A LRP2
3 homeostasis/metabolism MP:0005376 9.9 ALB CLCN5 CTNS CUBN EHHADH HNF4A
4 mortality/aging MP:0010768 9.61 ALB CUBN EHHADH HNF4A LRP2 OCRL
5 renal/urinary system MP:0005367 9.17 ALB CLCN5 CTNS CUBN LRP2 OCRL

Drugs & Therapeutics for Fanconi Syndrome

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

(show top 50) (show all 152)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Cysteamine Approved, Investigational Phase 3 60-23-1 6058
2
Fludarabine Approved Phase 2, Phase 3 21679-14-1, 75607-67-9 30751
3
Sirolimus Approved, Investigational Phase 2, Phase 3 53123-88-9 6436030 5284616 46835353
4
Everolimus Approved Phase 2, Phase 3 159351-69-6 6442177 70789204
5
Lenograstim Approved, Investigational Phase 2, Phase 3 135968-09-1
6
Paclitaxel Approved, Vet_approved Phase 2, Phase 3 33069-62-4 36314
7
Cyclophosphamide Approved, Investigational Phase 2, Phase 3 50-18-0, 6055-19-2 2907
8
Thiotepa Approved, Investigational Phase 2, Phase 3 52-24-4 5453
9
Carboplatin Approved Phase 2, Phase 3 41575-94-4 10339178 498142 38904
10
Doxorubicin Approved, Investigational Phase 2, Phase 3 23214-92-8 31703
11
Hydrochlorothiazide Approved, Vet_approved Phase 2, Phase 3 58-93-5 3639
12 Antineoplastic Agents, Phytogenic Phase 2, Phase 3
13 Albumin-Bound Paclitaxel Phase 2, Phase 3
14 Tubulin Modulators Phase 2, Phase 3
15 Antimitotic Agents Phase 2, Phase 3
16 Immunologic Factors Phase 2, Phase 3
17 Alkylating Agents Phase 2, Phase 3
18 Immunosuppressive Agents Phase 2, Phase 3
19 Antirheumatic Agents Phase 2, Phase 3
20 Antineoplastic Agents, Alkylating Phase 2, Phase 3
21 Anti-Bacterial Agents Phase 2, Phase 3
22 Antibiotics, Antitubercular Phase 2, Phase 3
23
Liposomal doxorubicin Phase 2, Phase 3 31703
24 Topoisomerase Inhibitors Phase 2, Phase 3
25 Antihypertensive Agents Phase 2, Phase 3
26 Natriuretic Agents Phase 2, Phase 3
27 Sodium Chloride Symporter Inhibitors Phase 2, Phase 3
28 diuretics Phase 2, Phase 3
29
Busulfan Approved, Investigational Phase 2 55-98-1 2478
30
Prednisolone phosphate Approved, Vet_approved Phase 2 302-25-0
31
Methylprednisolone Approved, Vet_approved Phase 2 83-43-2 6741
32
Methylprednisolone hemisuccinate Approved Phase 2 2921-57-5
33
Prednisolone Approved, Vet_approved Phase 2 50-24-8 5755
34
Deferasirox Approved, Investigational Phase 2 201530-41-8 5493381
35
Iron Approved, Experimental Phase 2 15438-31-0, 7439-89-6 23925 27284
36
Deferoxamine Approved, Investigational Phase 2 70-51-9 2973
37
Melphalan Approved Phase 2 148-82-3 460612 4053
38
Bortezomib Approved, Investigational Phase 2 179324-69-7 93860 387447
39
Metformin Approved Phase 2 657-24-9 4091 14219
40
rituximab Approved Phase 2 174722-31-7 10201696
41
Miconazole Approved, Investigational, Vet_approved Phase 1, Phase 2 22916-47-8 4189
42
Abatacept Approved Phase 2 332348-12-6 10237
43
Talazoparib Approved, Investigational Phase 2 1207456-01-6 135565082
44
Pembrolizumab Approved Phase 2 1374853-91-4
45
Docetaxel Approved, Investigational Phase 1, Phase 2 114977-28-5 148124
46
Vidarabine Approved, Investigational Phase 2 24356-66-9 21704 32326
47
Sargramostim Approved, Investigational Phase 1, Phase 2 83869-56-1, 123774-72-1
48
Cisplatin Approved Phase 1, Phase 2 15663-27-1 84093 441203 2767
49
Gemcitabine Approved Phase 1, Phase 2 95058-81-4 60750
50
Olaparib Approved Phase 2 763113-22-0 23725625

Interventional clinical trials:

(show top 50) (show all 107)
# Name Status NCT ID Phase Drugs
1 Risk-Adapted Allogeneic Stem Cell Transplantation For Mixed Donor Chimerism In Patients With Selected Non-Malignant Diseases Unknown status NCT01019876 Phase 2, Phase 3 Fludarabine;Cyclophosphamide;Cyclophosphamide 40;Cyclophosphamide 30
2 A Randomized, Crossover Pharmacokinetic and Pharmacodynamic Study to Determine the Safety and Efficacy of Cysteamine Bitartrate Delayed-release Capsules (RP103), Compared to Cystagon® in Patients With Nephropathic Cystinosis Completed NCT01000961 Phase 3 Cystagon® (Cysteamine Bitartrate);Cysteamine Bitartrate Delayed-release Capsules (RP103)
3 Total Body Irradiation Dose De-escalation Study in Patients With Fanconi Anemia Undergoing Alternate Donor Hematopoietic Cell Transplantation Recruiting NCT00352976 Phase 2, Phase 3 Cyclophosphamide;Fludarabine;Mycophenolate Mofetil;Sirolimus
4 Randomized Phase II/III Study of Individualized Neoadjuvant Chemotherapy in ' Triple Negative' Breast Tumors Active, not recruiting NCT01057069 Phase 2, Phase 3 Carboplatin and Paclitaxel;Doxorubicin, cyclophosphamide;Doxorubicin, cyclophosphamide, carboplatin, thiotepa, cyclophosphamide
5 Randomized Phase II/III Study of Intensified Alkylating Agent Chemotherapy With Peripheral Blood Progenitor Cell Support in the Preoperative Chemotherapy of Breast Tumors That Are Deficient for Homologous Recombination. Terminated NCT00448266 Phase 2, Phase 3 Intensified Cyclophophamide, Carboplatin and Thiotepa;dose dense adriamycine and cyclophosphamide
6 Pharmacodynamic Evaluation of the ANTICALCIURIC Effect of Hydrochlorothiazide in Dent's Disease Terminated NCT00638482 Phase 2, Phase 3 Hydrochlorothiazide
7 Clinical Phase II Trial to Evaluate Efficacy and Safety of CD34+ Cells Mobilization and Collection After Treatment With Plerixafor and Filgrastim in Patients With Fanconi Anemia for Subsequent Transduction With a Lentiviral Vector Carring FANCA Gene and Reinfusion in the Patient Unknown status NCT02931071 Phase 2 filgrastim;plerixafor
8 The Use Of Umbilical Cord Blood As A Source Of Hematopoietic Stem Cells Unknown status NCT00084695 Phase 2 busulfan;cyclophosphamide;fludarabine phosphate;melphalan;methylprednisolone
9 PHASE II Study - EFFICACY AND SAFETY OF PARPi TO TREAT PANCREATIC CANCER Unknown status NCT02511223 Phase 2 OLAPARIB
10 Phase II Study of Reduced Toxicity Myeloablative Conditioning Regimen for Cord Blood Transplantation in Pediatric Acute Myeloid Leukemia Unknown status NCT00887042 Phase 1, Phase 2 Fludarabine, Busulfan, Thymoglobulin
11 A Phase II Trial of 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 NCT01071239 Phase 2 Busulfan;Fludarabine;Cyclophosphamide;ATG
12 A Multicenter Phase II Trial of 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 NCT01082133 Phase 2 Chemotherapy
13 AMD3100 in Combination With G-CSF to Mobilize Peripheral Blood Stem Cells in Patients With Fanconi Anemia(FA): A Phase I/II Study Completed NCT00479115 Phase 1, Phase 2 AMD3100
14 Phase II Study of Safety & Efficacy of Deferasirox Given for 1 Year in Patients With Chronic Anemias and Transfusional Hemosiderosis Unable to be Treated With Deferoxamine Completed NCT00061763 Phase 2 Deferasirox
15 A Multicenter Phase II Trial of 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.
16 Phase II Pilot Study of Granulocyte Colony-Stimulating Factor for Inherited Bone Marrow Failure Syndromes Completed NCT00004787 Phase 2 filgrastim
17 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
18 Bone Marrow Stem Cell Transplantation for Children With Stem Cell Defects, Marrow Failure Syndromes, or Myeloid Leukemia in 1Remission Completed NCT00305708 Phase 1, Phase 2 busulfan;fludarabine phosphate
19 Treatment of Diamond Blackfan Anemia With Antithymocyte Globulin and Cyclosporine A Completed NCT00001749 Phase 2 Antithymocyte globulin;Cyclosporine
20 Cord Blood Stem Cell Transplantation Study (COBLT) Completed NCT00000603 Phase 2
21 Unrelated Umbilical Cord Blood As An Alternate Source Of Stem Cells Transplantation Completed NCT00055653 Phase 2 busulfan;cyclophosphamide;cyclosporine;fludarabine phosphate;melphalan;methylprednisolone
22 A Pilot Study to Assess the Safety, Tolerability, Pharmacokinetics and Pharmacodynamics of Cysteamine Bitartrate Delayed-release Capsules (RP103), Compared to Cysteamine Bitartrate (Cystagon®) in Patients With Nephropathic Cystinosis Completed NCT00872729 Phase 1, Phase 2 Cystagon®;RP103
23 An Evaluation of Bortezomib (VelcadeR ) Followed by High-Dose Melphalan and Bortezomib (VelcadeR) as Conditioning Regimen for Tandem Peripheral Blood Stem Cell Transplants in Patients With Primary Refractory Multiple Myeloma and Plasma Cell Leukemia Completed NCT00307086 Phase 2 Bortezomib;Melphalan
24 Transfusion of Autologous Umbilical Cord Blood to Reverse Hyperglycemia in Children With Type 1 Diabetes - A Pilot Study Completed NCT00305344 Phase 1, Phase 2
25 Phase II Randomized Trial of ABT-888 in Combination With Metronomic Oral Cyclophosphamide in Refractory BRCA-Positive Ovarian, Primary Peritoneal, Ovarian High-Grade Serous Carcinoma, Fallopian Tube Cancer, or Triple-Negative Breast Cancer Completed NCT01306032 Phase 2 ABT-888;Cyclophosphamide
26 Pilot Study of Metformin for Patients With Fanconi Anemia Recruiting NCT03398824 Phase 2 metformin HCl
27 T Cell Receptor Alpha/Beta T Cell Depleted (α/β TCD) Hematopoietic Cell Transplantation in Patients With Fanconi Anemia (FA) Recruiting NCT03579875 Phase 2 Total Body Irradiation (TBI) (Plan 1);Cyclophosphamide (CY) (Plan 1);Fludarabine (FLU);Methylprednisolone (MP);G-CSF;Cyclophosphamide (CY) (Plan 2);Rituximab
28 Quercetin Chemoprevention for Squamous Cell Carcinoma in Patients With Fanconi Anemia Recruiting NCT03476330 Phase 2 Quercetin (dietary supplement)
29 A Phase II Trial of HSCT for the Treatment of Patients With Fanconi Anemia Lacking a Genotypically Identical Donor, Using a Risk-Adjusted Chemotherapy Only Cytoreduction With Busulfan, Cyclophosphamide and Fludarabine Recruiting NCT02143830 Phase 2 Busulfan;Cyclophosphamide;Fludarabine;rabbit ATG;G-CSF
30 Pilot Study Assessing the Feasibility of CD34+ Cells Mobilization and Collection After Treatment With G-CSF and Plerixafor in Patients With Fanconi Anemia for Subsequent Treatment by Gene Therapy Recruiting NCT02678533 Phase 1, Phase 2 G-CSF;Plerixafor
31 A Study of Cyclophosphamide, Fludarabine, and Antithymocyte Globulin Followed by Matched Sibling Donor Hematopoietic Cell Transplantation in Patients With Fanconi Anemia Recruiting NCT00630253 Phase 1, Phase 2 Cyclophosphamide;Fludarabine;Methylprednisolone;Filgrastim;Cyclosporine;Mycophenolate Mofetil
32 A Phase II Trial of Hematopoietic Stem Cell Transplantation for the Treatment of Patients With Fanconi Anemia Lacking a Genotypically Identical Donor, Using a Risk-Adjusted Chemotherapy Only Cytoreduction With Busulfan, Cyclophosphamide and Fludarabine Recruiting NCT03600909 Phase 2 Busulfan;Fludarabine;Cyclophosphamide;Anti-Thymocyte Globulin (Rabbit);G-CSF
33 Hematopoietic Stem Cell Transplantation in High Risk Patients With Fanconi Anemia MT2002-02 Recruiting NCT00258427 Phase 2 busulfan;cyclophosphamide;fludarabine phosphate;methylprednisolone
34 Eltrombopag for Patients With Fanconi Anemia Recruiting NCT03206086 Phase 2 Eltrombopag
35 A Phase II Study of the CHK1 Inhibitor LY2606368 in Patients With Advanced Solid Tumors Exhibiting Replicative Stress or Homologous Recombination Repair Deficiency Recruiting NCT02873975 Phase 2 LY2606368
36 A Phase II Clinical Trial of the PARP Inhibitor Talazoparib in BRCA1 and BRCA2 Wild Type Patients With Advanced Triple Negative Breast Cancer and Homologous Recombination Deficiency or Advanced HER2 Negative Breast Cancer or Other Solid Tumors With a Mutation in Homologous Recombination Pathway Genes Recruiting NCT02401347 Phase 2 Talazoparib Tosylate
37 Evaluating Immune Checkpoint Inhibition In Solid Tumor Patients With Homologous Recombination Repair Deficiency Recruiting NCT03274661 Phase 2 Pembrolizumab 200 mg Q3W
38 Acute GVHD Suppression Using Costimulation Blockade to Expand Non-malignant Transplant (ASCENT) Recruiting NCT03924401 Phase 2 Abatacept
39 A Phase 1-2 Study of Sirolimus, Docetaxel and Carboplatin for Treatment of Patients With Metastatic, Castration Resistant Prostate Cancer: (Rapamycin Inhibition of DDSP [RID]) Recruiting NCT02565901 Phase 1, Phase 2 Carboplatin;Docetaxel;Sirolimus
40 Clinical Trial Phase I / II to Evaluate the Safety and Efficacy of the Infusion of Autologous CD34 + Cells Transduced With a Lentiviral Vector Carrying the Gene FANCA in Patients With FA Subtype A (FANCOLEN-1) Active, not recruiting NCT03157804 Phase 1, Phase 2 Plerixafor
41 Nonmyeloablative Hematopoietic Cell Transplantation for Patients With Fanconi Anemia Using Alternative Marrow Donors: A Phase II Dose-Finding Study Active, not recruiting NCT00453388 Phase 2 Cyclophosphamide;Cyclosporine;Fludarabine Phosphate;Mycophenolate Mofetil
42 Phase II Extension Study of CaspaCIDe T Cells (BPX-501) From an HLA-partially Matched Family Donor After Negative Selection of TCR αβ+T Cells in Pediatric Patients Affected by Hematological Disorders Active, not recruiting NCT02065869 Phase 1, Phase 2 rimiducid
43 A Phase 1/2 Trial of SRA737 (a Chk1 Inhibitor) Administered Orally in Subjects With Advanced Cancer Active, not recruiting NCT02797964 Phase 1, Phase 2 SRA737
44 A Phase 1/2 Trial of Oral SRA737 (a Chk1 Inhibitor) Given in Combination With Gemcitabine Plus Cisplatin or Gemcitabine Alone in Subjects With Advanced Cancer Active, not recruiting NCT02797977 Phase 1, Phase 2 SRA737, gemcitabine, cisplatin;SRA737, gemcitabine
45 Follow-up of Phase 1/2 Study of CaspaCIDe T Cells (BPX-501) From an HLA-partially Matched Family Donor After Negative Selection of TCR αβ+T Cells in Pediatric Patients Affected by Hematological Disorders Enrolling by invitation NCT03733249 Phase 1, Phase 2 Rimiducid
46 A Phase II Study of Olaparib in Patients With Advanced Biliary Tract Cancer With Aberrant DNA Repair Gene Mutations Not yet recruiting NCT04042831 Phase 2 Olaparib
47 A Phase I-II Study to Evaluate the Efficacy and Safety of Niraparib in Combination With Cabozantinib (XL184) in Patients With Advanced Urothelial Cancer After Failure to First-line Platinum-based Chemotherapy Not yet recruiting NCT03425201 Phase 1, Phase 2 Niraparib plus Cabozantinib
48 A Study of Thymic Shielding in Recipients of Total Body Irradiation, Cyclophosphamide, and Fludarabine Followed by Alternate Donor Hematopoietic Stem Cell Transplantation in Patients With Fanconi Anemia Terminated NCT00167206 Phase 1, Phase 2 Cyclophosphamide, Fludarabine
49 Phase I/II Dose Escalation Trial of Danazol in Patients With Fanconi Anemia or Dyskeratosis Congenita Terminated NCT01001598 Phase 1, Phase 2 danazol
50 Cd45 (Yth-24 and Yth 54) and Cd52 (Campath-1H) Monoclonal Antibody Conditioning Regimen for Allogeneic Donor Stem Cell Transplantation of Patients With Fanconi Anemia Terminated NCT00590460 Phase 1, Phase 2 Fludarabine

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, Bone Marrow, Breast, T Cells, Liver, Myeloid

Publications for Fanconi Syndrome

Articles related to Fanconi Syndrome:

(show top 50) (show all 1339)
# Title Authors PMID Year
1
Fibroblast growth factor 23 and phosphate homeostasis. 38
31335449 2019
2
Oh cystinosin: let me count the ways! 38
31331465 2019
3
Learning Physiology From Inherited Kidney Disorders. 38
31215303 2019
4
Kidney Biopsy Findings in a Patient With Valproic Acid-Associated Fanconi Syndrome. 38
30565480 2019
5
Phosphate matters when investigating hypercalcemia: a mutation in SLC34A3 causing HHRH 38
31352694 2019
6
Refractory ventricular tachycardia storm associated with severe hypokalemia in Fanconi syndrome. 38
31341780 2019
7
Fanconi syndrome due to tenofovir disoproxil fumarate (TDF) after liver transplantation. 38
31307942 2019
8
Efficacy and safety of elvitegravir/cobicistat/emtricitabine/tenofovir alafenamide in Asian participants with human immunodeficiency virus 1 infection: A sub-analysis of phase 3 clinical trials. 38
31303140 2019
9
A case of entecavir-induced Fanconi syndrome. 38
31154657 2019
10
Osteomalacia and Fanconi Syndrome Induced by Adefovir. 38
30713327 2019
11
C-Terminal Fibroblast Growth Factor-23 Levels in Non-Nutritional Hypophosphatemic Rickets. 38
30835073 2019
12
Potential use of stem cells as a therapy for cystinosis. 38
29789935 2019
13
Management of bone disease in cystinosis: Statement from an international conference. 38
31177550 2019
14
Case study of an inborn error manifested in the elderly: A woman with adult-onset mitochondrial disease mimicking systemic vasculitis. 38
30968563 2019
15
Protein O-GlcNAcylation Is Essential for the Maintenance of Renal Energy Homeostasis and Function via Lipolysis during Fasting and Diabetes. 38
31043434 2019
16
Intrinsic Bone Defects in Cystinotic Mice. 38
30794806 2019
17
The aminoglycoside geneticin permits translational readthrough of the CTNS W138X nonsense mutation in fibroblasts from patients with nephropathic cystinosis. 38
30413946 2019
18
Bortezomib-based chemotherapy can improve renal and tubular functions in patients with light chain-associated Fanconi syndrome. 38
30511139 2019
19
Effects of long-term cysteamine treatment in patients with cystinosis. 38
29260317 2019
20
Renal Tubular Acidosis Presenting as Nephrogenic Diabetes Insipidus. 38
31064905 2019
21
Denosumab improves clinical manifestations of hypophosphatemic osteomalacia by adefovir-induced Fanconi syndrome: a case report. 38
31003599 2019
22
Two cases of reversible Fanconi syndrome induced by lenalidomide. 38
30277123 2019
23
Hypophosphatemic Osteomalacia Associated with Adefovir-induced Fanconi Syndrome Initially Diagnosed as Diabetic Kidney Disease and Vitamin D Deficiency. 38
30333420 2019
24
Fanconi Syndrome. 38
30454741 2019
25
Severe hypophosphatemia induced by denosumab in a patient with osteomalacia and tenofovir disoproxil fumarate-related acquired Fanconi syndrome. 38
30171299 2019
26
A case report of crystalline light chain inclusion-associated kidney disease affecting podocytes but without Fanconi syndrome: A clonal analysis of pathological monoclonal light chain. 38
30702553 2019
27
[Marked improvement in renal tubular markers after switching from adefovir to tenofovir alafenamide in a case of Fanconi syndrome diagnosed through high ALP levels]. 38
30971673 2019
28
Low-dose adefovir dipivoxil-induced hypophosphatemia osteomalacia in five chronic hepatitis B virus-infected patients. Is low-dose adefovir dipivoxil-induced nephrotoxicity completely reversible? 38
31118563 2019
29
Partial Fanconi Syndrome Induced by Ifosfamide. 38
30937245 2019
30
Fanconi Syndrome and Tenofovir Alafenamide: A Case Report. 38
30690644 2019
31
Fanconi Syndrome in Alcoholic Patients: Old Concept, New Idea. 38
30602151 2019
32
Sodium valproate-induced Fanconi syndrome in two severely disabled patients receiving carnitine supplementation. 38
29679355 2019
33
A 57 kB Genomic Deletion Causing CTNS Loss of Function Contributes to the CTNS Mutational Spectrum in the Middle East. 38
30949462 2019
34
Hypophosphatemia in a Malnourished Child: When Renal Fanconi Syndrome Does Not Stand for Refeeding Syndrome. 38
29746006 2019
35
Partial Fanconi syndrome induced by ifosfamide. 38
30956588 2019
36
Chaperone-Mediated Autophagy Upregulation Rescues Megalin Expression and Localization in Cystinotic Proximal Tubule Cells. 38
30774622 2019
37
Acute kidney injury due to thin basement membrane disease mimicking Deferasirox nephrotoxicity: a case report. 38
30558557 2018
38
Adult Idiopathic Renal Fanconi Syndrome: A Case Report. 38
30899310 2018
39
Anesthetic challenges in a child with Lowe's and Fanconi syndrome. 38
30532329 2018
40
Nephrological and urological complications of homozygous c.974G>A (p.Arg325Gln) OSGEP mutations. 38
30141175 2018
41
TINU-associated Fanconi syndrome: a case report and review of literature. 38
30340545 2018
42
Legionella Pneumonia Complicated with Acquired Fanconi Syndrome. 38
29877286 2018
43
Nephrotoxicity and Chinese Herbal Medicine. 38
29615394 2018
44
Skeletal Consequences of Nephropathic Cystinosis. 38
29905968 2018
45
Impact of atypical mitochondrial cyclic-AMP level in nephropathic cystinosis. 38
29549422 2018
46
Targeted resequencing of phosphorus metabolism‑related genes in 86 patients with hypophosphatemic rickets/osteomalacia. 38
29901142 2018
47
Acquired Fanconi syndrome secondary to light chain deposition disease associated with monoclonal gammopathy of renal significance: A case report. 38
30200082 2018
48
Fanconi syndrome due to tenofovir disoproxil fumarate reversed by switching to tenofovir alafenamide fumarate in an HIV-infected patient. 38
30224952 2018
49
Tubulointerstitial nephritis and Fanconi syndrome in a patient with primary Sjögren's syndrome accompanied by antimitochondrial antibodies: A case report and review of the literature. 38
27142563 2018
50
Update of aristolochic acid nephropathy in Korea. 38
29551056 2018

Variations for Fanconi Syndrome

Expression for Fanconi Syndrome

Search GEO for disease gene expression data for Fanconi Syndrome.

Pathways for Fanconi Syndrome

Pathways related to Fanconi Syndrome according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.67 LRP2 CUBN ALB
2
Show member pathways
11.23 SLC2A2 HNF4A CLCN5
3 10.44 SLC2A2 HNF4A ALB

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 Golgi apparatus GO:0005794 9.88 OCRL LRP2 CUBN CLCN5 ALB
2 apical plasma membrane GO:0016324 9.71 SLC34A1 SLC2A2 LRP2 CUBN
3 endosome GO:0005768 9.65 SLC34A1 OCRL LRP2 CUBN CLCN5
4 early endosome GO:0005769 9.63 OCRL CTNS CLCN5
5 lysosomal membrane GO:0005765 9.62 LRP2 CUBN CTNS CLCN5
6 apical part of cell GO:0045177 9.54 LRP2 CUBN CLCN5
7 clathrin-coated pit GO:0005905 9.33 OCRL LRP2 CUBN
8 Golgi-associated vesicle GO:0005798 9.13 OCRL
9 brush border membrane GO:0031526 9.13 SLC34A1 LRP2 CUBN
10 brush border GO:0005903 8.92 SLC34A1 SLC2A2 LRP2 CUBN

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

# Name GO ID Score Top Affiliating Genes
1 receptor-mediated endocytosis GO:0006898 9.65 LRP2 CUBN ALB
2 lipid metabolic process GO:0006629 9.65 OCRL LRP2 HNF4A EHHADH CUBN
3 vitamin D metabolic process GO:0042359 9.43 LRP2 CUBN
4 response to nutrient GO:0007584 9.4 SLC34A1 ALAD
5 response to mercury ion GO:0046689 9.37 SLC34A1 ALAD
6 phosphate ion homeostasis GO:0055062 9.32 SLC34A1 PTH
7 lipoprotein transport GO:0042953 9.16 CUBN
8 response to parathyroid hormone GO:0071107 9.16 SLC34A1 PTH
9 response to cadmium ion GO:0046686 9.13 SLC34A1 PTH ALAD
10 response to lead ion GO:0010288 8.8 SLC34A1 PTH ALAD

Molecular functions related to Fanconi Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 fatty acid binding GO:0005504 8.96 HNF4A ALB
2 drug binding GO:0008144 8.8 LRP2 CUBN ALB

Sources for Fanconi Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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