Home
User Guide
What's in a MalaCard Search Guide Our Sources
Analysis Tools
GeneCards GeneAnalytics GeneAlaCart PathCards VarElect TGex
News and Views Disease Lists/Categories
About
About MalaCards Datasets Our Publications Weizmann Institute LifeMap Discovery® Terms of Use MalaCards Team
MCID: FNC004
MIFTS: 50

Fanconi Syndrome

Categories: Nephrological diseases, Rare diseases
Genes Tissues Related diseases Publications Pathways Drugs
Sources

Aliases & Classifications for Fanconi Syndrome

About this section

MalaCards integrated aliases for Fanconi Syndrome:

Name: Fanconi Syndrome 12 74 52 29 43 15 71
Primary Fanconi Renotubular Syndrome 52 58
Primary Fanconi Syndrome 52 58
Adult Fanconi Syndrome 12 71
Cystinosis, Infantile Nephropathic 71
Infantile Nephropathic Cystinosis 12
De Toni-Debre-Fanconi Syndrome 71
Fanconi Renotubular Syndrome 52
Congenital Fanconi Syndrome 12
De Toni-Fanconi Syndrome 12
Fanconi-De Toni Syndrome 12
Fanconi-De-Toni Syndrome 12
Fanconi-Bickel Syndrome 71
Detoni Fanconi Syndrome 12
Lignac-Fanconi Syndrome 12
Adult Fanconi Anemia 12
Fanconi Anemia 71

Characteristics:

Orphanet epidemiological data:

58
primary fanconi syndrome
Inheritance: Autosomal dominant,Autosomal recessive;

Classifications:

MalaCards categories:
Global: Rare diseases
Anatomical: Nephrological diseases
See all MalaCards categories (disease lists)
ICD10: 33
Orphanet: 58  
Rare renal diseases


External Ids:

Disease Ontology 12 DOID:1062
MeSH 43 D005198
NCIt 49 C3034 C4377
SNOMED-CT 67 40488004 44673006
ICD10 via Orphanet 33 E72.0
Orphanet 58 ORPHA3337
UMLS 71 C0015624 C0015625 C0341703 more
Sources

Summaries for Fanconi Syndrome

About this section
NIH Rare Diseases : 52 Fanconi syndrome is a condition in which the kidneys do not absorb certain substances into the body. These substances, such as cysteine , fructose , galactose , or glycogen , are lost in the urine. Fanconi syndrome is thought to be caused by genetic and environmental factors , and it may be diagnosed at any age. Symptoms of Fanconi syndrome include increased urine production (which may cause dehydration ), weakness, and abnormalities of the bones.

MalaCards based summary : Fanconi Syndrome, also known as primary fanconi renotubular syndrome, is related to dent disease 1 and lowe oculocerebrorenal syndrome. An important gene associated with Fanconi Syndrome is SLC34A1 (Solute Carrier Family 34 Member 1), and among its related pathways/superpathways are Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds and Hepatic ABC Transporters. The drugs alemtuzumab and Fludarabine have been mentioned in the context of this disorder. Affiliated tissues include kidney, bone and bone marrow, and related phenotypes are Increased viability and homeostasis/metabolism

Disease Ontology : 12 A renal tubular transport disease of the proximal renal tubes characterized by glucosuria, phosphaturia, generalized aminoaciduria and HCO3 wasting.

Wikipedia : 74 Fanconi syndrome or Fanconi's syndrome (English: /f??n'ko?ni/, /fan-/) is a syndrome of inadequate... more...

Sources

Related Diseases for Fanconi Syndrome

About this section

Diseases in the Fanconi Syndrome family:

Fanconi-Like Syndrome

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

(show top 50) (show all 338)
# Related Disease Score Top Affiliating Genes
1 dent disease 1 33.7 OCRL LRP2 CUBN CLCN5
2 lowe oculocerebrorenal syndrome 33.4 OCRL LRP2 CLCN5
3 cystinosis 33.3 LRP2 CUBN CTNS ALB
4 osteomalacia 31.7 SLC34A1 PTH CLCN5
5 aminoaciduria 31.6 SLC34A1 OCRL HNF4A EHHADH CLCN5
6 hypophosphatemia 31.5 SLC34A1 PTH OCRL CLCN5 ALB
7 rickets 31.3 SLC34A1 PTH OCRL CLCN5 ALB
8 acute kidney failure 31.2 UMOD SLC22A12 ALB
9 kidney disease 31.0 UMOD PTH CLCN5 AMBP ALB
10 chronic kidney disease 30.7 UMOD PTH AVP ALB
11 acute kidney tubular necrosis 30.6 UMOD LRP2 AVP ALB
12 pyelonephritis 30.5 UMOD AMBP ALB
13 nephrocalcinosis 30.4 UMOD SLC34A1 PTH OCRL LRP2 HNF4A
14 maturity-onset diabetes of the young, type 1 30.3 SLC2A2 HNF4A ALB
15 donnai-barrow syndrome 30.3 OCRL LRP2 CUBN CLCN5
16 vesicoureteral reflux 1 30.2 UMOD AMBP ALB
17 inappropriate adh syndrome 30.2 AVP ALB
18 nephrolithiasis, calcium oxalate 29.7 UMOD SLC34A1 SLC22A12 PTH OCRL LRP2
19 fanconi renotubular syndrome 2 12.8
20 acquired monoclonal ig light chain-associated fanconi syndrome 12.3
21 atypical fanconi syndrome-neonatal hyperinsulinism syndrome 12.1
22 fanconi renotubular syndrome 1 11.9
23 fanconi-bickel syndrome 11.8
24 fanconi anemia, complementation group a 11.7
25 fanconi renotubular syndrome 4 with maturity-onset diabetes of the young 11.6
26 iminoglycinuria 11.5
27 cystinosis, nephropathic 11.4
28 adult-onset still's disease 11.4
29 arthrogryposis, renal dysfunction, and cholestasis 1 11.1
30 dent disease 2 11.1
31 wissler's syndrome 11.1
32 metabolic acidosis 10.6
33 fanconi-like syndrome 10.6 OCRL LRP2 CUBN
34 hepatoid adenocarcinoma 10.5 HNF4A ALB
35 nephrolithiasis/osteoporosis, hypophosphatemic, 1 10.5 SLC34A1 PTH CLCN5
36 hypophosphatemic rickets with hypercalciuria, hereditary 10.5 SLC34A1 PTH
37 renal tubular acidosis 10.5
38 phosphorus metabolism disease 10.5 SLC34A1 PTH ALB
39 congenital intrinsic factor deficiency 10.5 LRP2 CUBN ALB
40 hypokalemia 10.5
41 glomerular disease 10.5 AMBP ALB
42 serous labyrinthitis 10.5 AVP ALB
43 bartter disease 10.5 UMOD CLCN5 AVP
44 ureteral obstruction 10.5 LRP2 HNF4A CLCN5
45 hyperphosphatemia 10.5 SLC34A1 PTH ALB
46 scleredema adultorum 10.5 PTH CLCN5
47 paralytic ileus 10.5 AVP ALB
48 x-linked recessive disease 10.5 OCRL CLCN5 ALB
49 hypertensive nephropathy 10.5 AMBP ALB
50 gout 10.4 UMOD SLC22A12 ALB

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



Diseases related to Fanconi Syndrome
Sources

Symptoms & Phenotypes for Fanconi Syndrome

About this section

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

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased viability GR00386-A-1 9.36 ALAD ALB AMBP AVP CLCN5 CTNS

MGI Mouse Phenotypes related to Fanconi Syndrome:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 10.25 ALAD ALB AVP CLCN5 CTNS CUBN
2 growth/size/body region MP:0005378 10.24 CLCN5 CUBN EHHADH GATM HNF4A LRP2
3 behavior/neurological MP:0005386 10.14 AMBP AVP CTNS EHHADH GATM LRP2
4 mortality/aging MP:0010768 10.13 ALAD ALB AVP CUBN EHHADH GATM
5 renal/urinary system MP:0005367 9.73 ALB AVP CLCN5 CTNS CUBN GATM
6 muscle MP:0005369 9.7 ALB CTNS EHHADH GATM SLC2A2 SLC34A1
7 skeleton MP:0005390 9.32 AVP CLCN5 CTNS GATM HNF4A LRP2
Sources

Drugs & Therapeutics for Fanconi Syndrome

About this section

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

(show top 50) (show all 145)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
alemtuzumab Approved, Investigational Phase 2, Phase 3 216503-57-0
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 5284616 6436030 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
Carboplatin Approved Phase 2, Phase 3 41575-94-4 10339178 498142 38904
9
Thiotepa Approved, Investigational Phase 2, Phase 3 52-24-4 5453
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 Antimitotic Agents Phase 2, Phase 3
13 Albumin-Bound Paclitaxel Phase 2, Phase 3
14 Immunologic Factors Phase 2, Phase 3
15 Alkylating Agents Phase 2, Phase 3
16 Antirheumatic Agents Phase 2, Phase 3
17 Immunosuppressive Agents Phase 2, Phase 3
18 Antibiotics, Antitubercular Phase 2, Phase 3
19 Anti-Bacterial Agents Phase 2, Phase 3
20 Topoisomerase Inhibitors Phase 2, Phase 3
21
Liposomal doxorubicin Phase 2, Phase 3 31703
22 Antihypertensive Agents Phase 2, Phase 3
23 Natriuretic Agents Phase 2, Phase 3
24 Sodium Chloride Symporter Inhibitors Phase 2, Phase 3
25 diuretics Phase 2, Phase 3
26
Busulfan Approved, Investigational Phase 2 55-98-1 2478
27
Methylprednisolone hemisuccinate Approved Phase 2 2921-57-5
28
Methylprednisolone Approved, Vet_approved Phase 2 83-43-2 6741
29
Prednisolone Approved, Vet_approved Phase 2 50-24-8 5755
30 Prednisolone acetate Approved, Vet_approved Phase 2 52-21-1
31
Prednisolone phosphate Approved, Vet_approved Phase 2 302-25-0
32
Iron Approved, Experimental Phase 2 7439-89-6, 15438-31-0 23925 27284
33
Deferasirox Approved, Investigational Phase 2 201530-41-8 5493381
34
Deferoxamine Approved, Investigational Phase 2 70-51-9 2973
35
Melphalan Approved Phase 2 148-82-3 4053 460612
36
Bortezomib Approved, Investigational Phase 2 179324-69-7 387447 93860
37
Metformin Approved Phase 2 657-24-9 14219 4091
38
rituximab Approved Phase 2 174722-31-7 10201696
39
Miconazole Approved, Investigational, Vet_approved Phase 1, Phase 2 22916-47-8 4189
40
Abatacept Approved Phase 2 332348-12-6 10237
41
Pembrolizumab Approved Phase 2 1374853-91-4
42
Talazoparib Approved, Investigational Phase 2 1207456-01-6 135565082
43
Docetaxel Approved, Investigational Phase 1, Phase 2 114977-28-5 148124
44
Sargramostim Approved, Investigational Phase 1, Phase 2 123774-72-1, 83869-56-1
45
Cisplatin Approved Phase 1, Phase 2 15663-27-1 84093 441203 2767
46
Gemcitabine Approved Phase 1, Phase 2 95058-81-4 60750
47
Olaparib Approved Phase 2 763113-22-0 23725625
48
Niraparib Approved, Investigational Phase 2 1038915-60-4 24958200
49
Danazol Approved Phase 1, Phase 2 17230-88-5 28417
50
Prednisolone hemisuccinate Experimental Phase 2 2920-86-7

Interventional clinical trials:

(show top 50) (show all 109)
# 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 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
3 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
4 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
5 Pharmacodynamic Evaluation of the ANTICALCIURIC Effect of Hydrochlorothiazide in Dent's Disease Terminated NCT00638482 Phase 2, Phase 3 Hydrochlorothiazide
6 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
7 The Use Of Umbilical Cord Blood As A Source Of Hematopoietic Stem Cells Unknown status NCT00084695 Phase 2 busulfan;cyclophosphamide;fludarabine phosphate;melphalan;methylprednisolone
8 PHASE II Study - EFFICACY AND SAFETY OF PARPi TO TREAT PANCREATIC CANCER Unknown status NCT02511223 Phase 2 OLAPARIB
9 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
10 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
11 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
12 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
13 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
14 Phase II Pilot Study of Granulocyte Colony-Stimulating Factor for Inherited Bone Marrow Failure Syndromes Completed NCT00004787 Phase 2 filgrastim
15 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
16 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
17 Treatment of Diamond Blackfan Anemia With Antithymocyte Globulin and Cyclosporine A Completed NCT00001749 Phase 2 Antithymocyte globulin;Cyclosporine
18 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.
19 Unrelated Umbilical Cord Blood As An Alternate Source Of Stem Cells Transplantation Completed NCT00055653 Phase 2 busulfan;cyclophosphamide;cyclosporine;fludarabine phosphate;melphalan;methylprednisolone
20 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
21 Transfusion of Autologous Umbilical Cord Blood to Reverse Hyperglycemia in Children With Type 1 Diabetes - A Pilot Study Completed NCT00305344 Phase 1, Phase 2
22 Cord Blood Stem Cell Transplantation Study (COBLT) Completed NCT00000603 Phase 2
23 A Phase 1/2 Trial of SRA737 (a Chk1 Inhibitor) Administered Orally in Subjects With Advanced Cancer Completed NCT02797964 Phase 1, Phase 2 SRA737
24 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
25 Pilot Study of Metformin for Patients With Fanconi Anemia Recruiting NCT03398824 Phase 2 metformin HCl
26 A Phase II Clinical Trial to Evaluate the Efficacy of the Infusion of Autologous CD34+ Cells Transduced With a Lentiviral Vector Carrying the FANCA Gene (Orphan Drug) in Patients With Fanconi Anemia Subtype A Recruiting NCT04069533 Phase 2
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 Evaluating Immune Checkpoint Inhibition In Solid Tumor Patients With Homologous Recombination Repair Deficiency Recruiting NCT03274661 Phase 2 Pembrolizumab 200 mg Q3W
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 Acute GVHD Suppression Using Costimulation Blockade to Expand Non-malignant Transplant (ASCENT) Recruiting NCT03924401 Phase 2 Abatacept
38 A Phase 2, Single Center, Open-Label, Multiple Dose Escalation Study to Evaluate the Safety, Tolerability, Pharmacokinetics, and Pharmacodynamics of Daily Subcutaneously Administered ELX-02 in Patients With Nephropathic Cystinosis Bearing One or More CTNS Gene (Cystinosin) Nonsense Mutations Recruiting NCT04069260 Phase 2 ELX-02
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 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 Recruiting NCT03425201 Phase 1, Phase 2 Niraparib plus Cabozantinib
41 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
42 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
43 A Phase II Study of the CHK1 Inhibitor LY2606368 in Patients With Advanced Solid Tumors Exhibiting Replicative Stress or Homologous Recombination Repair Deficiency Active, not recruiting NCT02873975 Phase 2 LY2606368
44 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
45 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
46 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
47 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
48 Trial of Maintenance With Niraparib in Patients With Suboptimal Debulked Stage III, Stage IV or Platinum-sensitive Recurrent Uterine Serous Carcinoma Not yet recruiting NCT04080284 Phase 2 Niraparib
49 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
50 Phase I/II Dose Escalation Trial of Danazol in Patients With Fanconi Anemia or Dyskeratosis Congenita Terminated NCT01001598 Phase 1, Phase 2 danazol

Search NIH Clinical Center for Fanconi Syndrome

Cochrane evidence based reviews: fanconi syndrome

Sources

Genetic Tests for Fanconi Syndrome

About this section

Genetic tests related to Fanconi Syndrome:

# Genetic test Affiliating Genes
1 Fanconi Syndrome 29
Sources

Anatomical Context for Fanconi Syndrome

About this section

MalaCards organs/tissues related to Fanconi Syndrome:

40
Kidney, Bone, Bone Marrow, T Cells, Liver, Breast, Myeloid
Sources

Publications for Fanconi Syndrome

About this section

Articles related to Fanconi Syndrome:

(show top 50) (show all 1361)
# Title Authors PMID Year
1
An uncommon case of arthrogryposis, renal dysfunction, and cholestasis (ARC) syndrome and review of the renal involvement: Questions. 61
31463585 2020
2
Life-threatening rhabdomyolysis and Fanconi syndrome related to tenofovir disoproxil fumarate administration in an HIV-infected patient. 61
31506209 2020
3
Mitochondrial DNA mutations in renal disease: an overview. 61
31925537 2020
4
Incorporating ifosfamide into salvia oil-based nanoemulsion diminishes its nephrotoxicity in mice inoculated with tumor. 61
31988852 2020
5
A Novel CLCN5 Splice Site Mutation in a Boy with Incomplete Phenotype of Dent Disease. 61
31687264 2019
6
Molecular Basis for Autosomal-Dominant Renal Fanconi Syndrome Caused by HNF4A. 61
31875549 2019
7
A role for OCRL in glomerular function and disease. 61
31811534 2019
8
Mitochondrial Dynamics of Proximal Tubular Epithelial Cells in Nephropathic Cystinosis. 61
31888107 2019
9
Molecular based newborn screening in Germany: Follow-up for cystinosis. 61
31641587 2019
10
Protection of Cystinotic Mice by Kidney-Specific Megalin Ablation Supports an Endocytosis-Based Mechanism for Nephropathic Cystinosis Progression. 61
31548351 2019
11
A case of entecavir-induced Fanconi syndrome. 61
31154657 2019
12
Canagliflozin-induced Fanconi syndrome in a patient with previously unrecognized type 1 diabetes. 61
31724039 2019
13
Transient Fanconi Syndrome After Treatment with Firocoxib, Cefadroxil, Tramadol, and Famotidine in a Maltese. 61
31525093 2019
14
Proteomic analysis of rat kidney under maleic acid treatment by SWATH-MS technology. 61
31677360 2019
15
Fanconi Syndrome and Tenofovir Alafenamide. 61
31610561 2019
16
Fanconi Syndrome and Tenofovir Alafenamide. 61
31610562 2019
17
CTNS mRNA molecular analysis revealed a novel mutation in a child with infantile nephropathic cystinosis: a case report. 61
31672123 2019
18
Management of bone disease in cystinosis: Statement from an international conference. 61
31177550 2019
19
Proximal renal tubular acidosis with and without Fanconi syndrome. 61
31474092 2019
20
Fibroblast growth factor 23 and phosphate homeostasis. 61
31335449 2019
21
[Mitochondrial DNA deletion syndrome: a case report and literature review]. 61
31446694 2019
22
Fanconi syndrome due to tenofovir disoproxil fumarate (TDF) after liver transplantation. 61
31307942 2019
23
Oh cystinosin: let me count the ways! 61
31331465 2019
24
Learning Physiology From Inherited Kidney Disorders. 61
31215303 2019
25
Kidney Biopsy Findings in a Patient With Valproic Acid-Associated Fanconi Syndrome. 61
30565480 2019
26
Phosphate matters when investigating hypercalcemia: a mutation in SLC34A3 causing HHRH 61
31352694 2019
27
Refractory ventricular tachycardia storm associated with severe hypokalemia in Fanconi syndrome. 61
31341780 2019
28
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. 61
31303140 2019
29
Fanconi Syndrome and Tenofovir Alafenamide: A Case Report. 61
30690644 2019
30
Osteomalacia and Fanconi Syndrome Induced by Adefovir. 61
30713327 2019
31
C-Terminal Fibroblast Growth Factor-23 Levels in Non-Nutritional Hypophosphatemic Rickets. 61
30835073 2019
32
Potential use of stem cells as a therapy for cystinosis. 61
29789935 2019
33
Case study of an inborn error manifested in the elderly: A woman with adult-onset mitochondrial disease mimicking systemic vasculitis. 61
30968563 2019
34
Protein O-GlcNAcylation Is Essential for the Maintenance of Renal Energy Homeostasis and Function via Lipolysis during Fasting and Diabetes. 61
31043434 2019
35
Intrinsic Bone Defects in Cystinotic Mice. 61
30794806 2019
36
The aminoglycoside geneticin permits translational readthrough of the CTNS W138X nonsense mutation in fibroblasts from patients with nephropathic cystinosis. 61
30413946 2019
37
Bortezomib-based chemotherapy can improve renal and tubular functions in patients with light chain-associated Fanconi syndrome. 61
30511139 2019
38
Effects of long-term cysteamine treatment in patients with cystinosis. 61
29260317 2019
39
Renal Tubular Acidosis Presenting as Nephrogenic Diabetes Insipidus. 61
31064905 2019
40
Denosumab improves clinical manifestations of hypophosphatemic osteomalacia by adefovir-induced Fanconi syndrome: a case report. 61
31003599 2019
41
Two cases of reversible Fanconi syndrome induced by lenalidomide. 61
30277123 2019
42
Hypophosphatemic Osteomalacia Associated with Adefovir-induced Fanconi Syndrome Initially Diagnosed as Diabetic Kidney Disease and Vitamin D Deficiency. 61
30333420 2019
43
Severe hypophosphatemia induced by denosumab in a patient with osteomalacia and tenofovir disoproxil fumarate-related acquired Fanconi syndrome. 61
30171299 2019
44
Fanconi Syndrome. 61
30454741 2019
45
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. 61
30702553 2019
46
Fanconi Syndrome in Alcoholic Patients: Old Concept, New Idea. 61
30602151 2019
47
Low-dose adefovir dipivoxil-induced hypophosphatemia osteomalacia in five chronic hepatitis B virus-infected patients. Is low-dose adefovir dipivoxil-induced nephrotoxicity completely reversible? 61
31118563 2019
48
Partial Fanconi Syndrome Induced by Ifosfamide. 61
30937245 2019
49
Deferasirox - a rarer cause of Fanconi syndrome. 61
31528290 2019
50
Sodium valproate-induced Fanconi syndrome in two severely disabled patients receiving carnitine supplementation. 61
29679355 2019
Sources

Variations for Fanconi Syndrome

About this section
Sources

Expression for Fanconi Syndrome

About this section
Search GEO for disease gene expression data for Fanconi Syndrome.
Sources

Pathways for Fanconi Syndrome

About this section

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

# Super pathways Score Top Affiliating Genes
1
Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds 65
Show member pathways
 12.41 SLC7A7 SLC34A1 SLC2A2 SLC22A12 MYO5B CTNS
2
Hepatic ABC Transporters 63
Show member pathways
 11.43 SLC2A2 HNF4A CLCN5
3
FOXA2 and FOXA3 transcription factor networks 1
10.78 SLC2A2 HNF4A ALB
Sources

GO Terms for Fanconi Syndrome

About this section

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

# Name GO ID Score Top Affiliating Genes
1 extracellular exosome GO:0070062 9.96 UMOD SLC22A12 MYO5B LRP2 GATM CUBN
2 endosome GO:0005768 9.83 SLC34A1 OCRL LRP2 CUBN CLCN5
3 lysosomal membrane GO:0005765 9.71 LRP2 CUBN CTNS CLCN5
4 apical part of cell GO:0045177 9.54 LRP2 CUBN CLCN5
5 clathrin-coated pit GO:0005905 9.5 OCRL LRP2 CUBN
6 brush border GO:0005903 9.46 SLC34A1 SLC2A2 LRP2 CUBN
7 apical plasma membrane GO:0016324 9.43 UMOD SLC34A1 SLC2A2 SLC22A12 LRP2 CUBN
8 brush border membrane GO:0031526 8.92 SLC34A1 SLC22A12 LRP2 CUBN

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

(show all 13)
# Name GO ID Score Top Affiliating Genes
1 transmembrane transport GO:0055085 9.91 SLC7A7 SLC2A2 SLC22A12 CTNS CLCN5
2 lipid metabolic process GO:0006629 9.85 OCRL LRP2 HNF4A EHHADH CUBN
3 response to drug GO:0042493 9.78 SLC34A1 SLC22A12 PTH ALAD
4 membrane organization GO:0061024 9.7 OCRL LRP2 AVP
5 response to ethanol GO:0045471 9.67 PTH AVP ALAD
6 receptor-mediated endocytosis GO:0006898 9.56 LRP2 CUBN AMBP ALB
7 grooming behavior GO:0007625 9.43 CTNS AVP
8 vitamin D metabolic process GO:0042359 9.4 LRP2 CUBN
9 response to mercury ion GO:0046689 9.37 SLC34A1 ALAD
10 phosphate ion homeostasis GO:0055062 9.32 SLC34A1 PTH
11 response to parathyroid hormone GO:0071107 9.16 SLC34A1 PTH
12 response to cadmium ion GO:0046686 9.13 SLC34A1 PTH ALAD
13 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 drug binding GO:0008144 8.8 LRP2 CUBN ALB
Sources

Sources for Fanconi Syndrome

About this section
3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
Content
Loading form....