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MCID: FNC004
MIFTS: 50

Fanconi Syndrome

Categories: Nephrological diseases, Rare diseases
Genes Tissues Related diseases Publications Pathways Drugs
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Aliases & Classifications for Fanconi Syndrome

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MalaCards integrated aliases for Fanconi Syndrome:

Name: Fanconi Syndrome 12 74 52 29 15 71
Primary Fanconi Renotubular Syndrome 52 58
Adult Fanconi Syndrome 12 71
Cystinosis, Infantile Nephropathic 71
Infantile Nephropathic Cystinosis 12
Primary Fanconi Renal Syndrome 58
De Toni-Debre-Fanconi Syndrome 71
Detoni-Debre-Fanconi Syndrome 58
Fanconi Renotubular Syndrome 52
Congenital Fanconi Syndrome 12
De Toni-Fanconi Syndrome 12
Fanconi-De Toni Syndrome 12
Fanconi-De-Toni Syndrome 12
Primary Fanconi Syndrome 52
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 renotubular 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
NCIt 49 C3034 C4377
SNOMED-CT 67 236468006 40488004
ICD10 via Orphanet 33 E72.0
Orphanet 58 ORPHA3337
UMLS 71 C0015624 C0015625 C0341703 more
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Summaries for Fanconi Syndrome

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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 fanconi renotubular syndrome 1 and dent disease 1. 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 Lenograstim have been mentioned in the context of this disorder. Affiliated tissues include kidney, bone and bone marrow, and related phenotypes are Increased viability and growth/size/body region

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: /fɑːnˈkoʊni/, /fæn-/) is a syndrome of inadequate... more...

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Related Diseases for Fanconi Syndrome

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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 Suite gene sharing:

(show top 50) (show all 344)
# Related Disease Score Top Affiliating Genes
1 fanconi renotubular syndrome 1 33.7 GATM EHHADH
2 dent disease 1 33.6 SLC34A1 OCRL LRP2 CUBN CLCN5
3 lowe oculocerebrorenal syndrome 33.4 OCRL LRP2 CLCN5
4 cystinosis 33.3 LRP2 CUBN CTNS ALB
5 osteomalacia 31.7 SLC34A1 PTH CLCN5
6 aminoaciduria 31.6 SLC34A1 OCRL HNF4A EHHADH CLCN5
7 hypophosphatemia 31.5 SLC34A1 PTH OCRL CLCN5 ALB
8 rickets 31.3 SLC34A1 PTH OCRL CLCN5 ALB
9 acute kidney failure 31.2 UMOD SLC22A12 ALB
10 kidney disease 31.1 UMOD PTH CLCN5 AMBP ALB
11 end stage renal disease 30.7 UMOD PTH ALB
12 acute kidney tubular necrosis 30.7 UMOD LRP2 ALB
13 pyelonephritis 30.5 UMOD AMBP ALB
14 nephrocalcinosis 30.5 UMOD SLC34A1 PTH OCRL LRP2 HNF4A
15 maturity-onset diabetes of the young, type 1 30.3 SLC2A2 HNF4A ALB
16 donnai-barrow syndrome 30.3 OCRL LRP2 CUBN CLCN5
17 nephrolithiasis, calcium oxalate 30.2 UMOD SLC34A1 CLCN5 AMBP
18 vesicoureteral reflux 1 30.2 UMOD AMBP ALB
19 inappropriate adh syndrome 30.2 AVP ALB
20 nephrolithiasis 30.1 UMOD SLC34A1 SLC22A12 PTH OCRL LRP2
21 acquired monoclonal ig light chain-associated fanconi syndrome 12.3
22 wissler-fanconi syndrome 12.3
23 atypical fanconi syndrome-neonatal hyperinsulinism syndrome 12.1
24 fanconi-bickel syndrome 11.8
25 fanconi renotubular syndrome 2 11.7
26 fanconi anemia, complementation group a 11.7
27 fanconi renotubular syndrome 4 with maturity-onset diabetes of the young 11.6
28 iminoglycinuria 11.5
29 adult-onset still's disease 11.4
30 arthrogryposis, renal dysfunction, and cholestasis 1 11.1
31 dent disease 2 11.1
32 cystinosis, nephropathic 11.1
33 metabolic acidosis 10.6
34 nephrolithiasis/osteoporosis, hypophosphatemic, 1 10.6 SLC34A1 PTH
35 fanconi-like syndrome 10.6 LRP2 CUBN
36 hypophosphatemic rickets with hypercalciuria, hereditary 10.5 SLC34A1 PTH
37 phosphorus metabolism disease 10.5 SLC34A1 PTH ALB
38 3-methylglutaconic aciduria, type i 10.5 LRP2 EHHADH CUBN
39 renal tubular acidosis 10.5
40 congenital intrinsic factor deficiency 10.5 LRP2 CUBN ALB
41 hypokalemia 10.5
42 bartter disease 10.5 UMOD CLCN5 AVP
43 hyperphosphatemia 10.5 SLC34A1 PTH ALB
44 ureteral obstruction 10.5 LRP2 HNF4A CLCN5
45 hepatoid adenocarcinoma 10.5 HNF4A ALB
46 hypertensive nephropathy 10.5 AMBP ALB
47 x-linked recessive disease 10.5 OCRL CLCN5 ALB
48 amino acid metabolic disorder 10.5 SLC7A7 GATM ALB
49 paralytic ileus 10.5 AVP ALB
50 urolithiasis 10.5 UMOD AMBP ALB

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



Diseases related to Fanconi Syndrome
Sources

Symptoms & Phenotypes for Fanconi Syndrome

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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 8.32 CLCN5

MGI Mouse Phenotypes related to Fanconi Syndrome:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.27 ALAD CLCN5 CUBN EHHADH GATM HNF4A
2 homeostasis/metabolism MP:0005376 10.25 ALAD ALB AVP CLCN5 CTNS CUBN
3 behavior/neurological MP:0005386 10.22 ALAD AMBP AVP CTNS EHHADH GATM
4 mortality/aging MP:0010768 10.13 ALAD ALB AVP CUBN EHHADH GATM
5 renal/urinary system MP:0005367 9.77 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

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

(show top 50) (show all 140)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
alemtuzumab Approved, Investigational Phase 2, Phase 3 216503-57-0
2
Lenograstim Approved, Investigational Phase 2, Phase 3 135968-09-1
3
Paclitaxel Approved, Vet_approved Phase 2, Phase 3 33069-62-4 36314
4
Cyclophosphamide Approved, Investigational Phase 2, Phase 3 50-18-0, 6055-19-2 2907
5
Carboplatin Approved Phase 2, Phase 3 41575-94-4 10339178 38904 498142
6
Doxorubicin Approved, Investigational Phase 2, Phase 3 23214-92-8 31703
7
Thiotepa Approved, Investigational Phase 2, Phase 3 52-24-4 5453
8
Hydrochlorothiazide Approved, Vet_approved Phase 2, Phase 3 58-93-5 3639
9 Anti-Bacterial Agents Phase 2, Phase 3
10 Antibiotics, Antitubercular Phase 2, Phase 3
11 Albumin-Bound Paclitaxel Phase 2, Phase 3
12 Tubulin Modulators Phase 2, Phase 3
13 Antimitotic Agents Phase 2, Phase 3
14 Alkylating Agents Phase 2, Phase 3
15 Immunosuppressive Agents Phase 2, Phase 3
16 Immunologic Factors Phase 2, Phase 3
17 Antirheumatic Agents Phase 2, Phase 3
18
Liposomal doxorubicin Phase 2, Phase 3 31703
19 Sodium Chloride Symporter Inhibitors Phase 2, Phase 3
20 Antihypertensive Agents Phase 2, Phase 3
21 diuretics Phase 2, Phase 3
22
Fludarabine Approved Phase 2 21679-14-1, 75607-67-9 30751
23
Busulfan Approved, Investigational Phase 2 55-98-1 2478
24
Methylprednisolone Approved, Vet_approved Phase 2 83-43-2 6741
25
Prednisolone phosphate Approved, Vet_approved Phase 2 302-25-0
26
Methylprednisolone hemisuccinate Approved Phase 2 2921-57-5
27
Prednisolone Approved, Vet_approved Phase 2 50-24-8 5755
28 Prednisolone acetate Approved, Vet_approved Phase 2 52-21-1
29
Mycophenolic acid Approved Phase 2 24280-93-1 446541
30
Deferoxamine Approved, Investigational Phase 2 70-51-9 2973
31
Iron Approved, Experimental Phase 2 15438-31-0, 7439-89-6 27284 23925
32
Deferasirox Approved, Investigational Phase 2 201530-41-8 5493381
33
Melphalan Approved Phase 2 148-82-3 460612 4053
34
Bortezomib Approved, Investigational Phase 2 179324-69-7 387447 93860
35
Tacrolimus Approved, Investigational Phase 2 104987-11-3 445643 439492 6473866
36
Metformin Approved Phase 2 657-24-9 14219 4091
37
rituximab Approved Phase 2 174722-31-7 10201696
38
Abatacept Approved Phase 2 332348-12-6 10237
39
Talazoparib Approved, Investigational Phase 2 1207456-01-6 135565082
40
Pembrolizumab Approved Phase 2 1374853-91-4
41
Niraparib Approved, Investigational Phase 2 1038915-60-4 24958200
42
Clotrimazole Approved, Vet_approved Phase 1, Phase 2 23593-75-1 2812
43
Miconazole Approved, Investigational, Vet_approved Phase 1, Phase 2 22916-47-8 4189
44
Sargramostim Approved, Investigational Phase 1, Phase 2 83869-56-1, 123774-72-1
45
Sirolimus Approved, Investigational Phase 1, Phase 2 53123-88-9 5284616 6436030 46835353
46
Cisplatin Approved Phase 1, Phase 2 15663-27-1 2767 441203 84093
47
Docetaxel Approved, Investigational Phase 1, Phase 2 114977-28-5 148124
48
Gemcitabine Approved Phase 1, Phase 2 95058-81-4 60750
49
Olaparib Approved Phase 2 763113-22-0 23725625
50
Danazol Approved Phase 1, Phase 2 17230-88-5 28417

Interventional clinical trials:

(show top 50) (show all 113)
# 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 The Use Of Umbilical Cord Blood As A Source Of Hematopoietic Stem Cells Unknown status NCT00084695 Phase 2 busulfan;cyclophosphamide;fludarabine phosphate;melphalan;methylprednisolone
7 PHASE II Study - EFFICACY AND SAFETY OF PARPi TO TREAT PANCREATIC CANCER Unknown status NCT02511223 Phase 2 OLAPARIB
8 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
9 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
10 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 Completed NCT02931071 Phase 2 filgrastim;plerixafor
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 Nonmyeloablative Hematopoietic Cell Transplantation for Patients With Fanconi Anemia Using Alternative Marrow Donors: A Phase II Dose-Finding Study Completed NCT00453388 Phase 2 Cyclophosphamide;Cyclosporine;Fludarabine Phosphate;Mycophenolate Mofetil
15 Phase II Pilot Study of Granulocyte Colony-Stimulating Factor for Inherited Bone Marrow Failure Syndromes Completed NCT00004787 Phase 2 filgrastim
16 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
17 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
18 Treatment of Diamond Blackfan Anemia With Antithymocyte Globulin and Cyclosporine A Completed NCT00001749 Phase 2 Antithymocyte globulin;Cyclosporine
19 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.
20 Unrelated Umbilical Cord Blood As An Alternate Source Of Stem Cells Transplantation Completed NCT00055653 Phase 2 busulfan;cyclophosphamide;cyclosporine;fludarabine phosphate;melphalan;methylprednisolone
21 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
22 Transfusion of Autologous Umbilical Cord Blood to Reverse Hyperglycemia in Children With Type 1 Diabetes - A Pilot Study Completed NCT00305344 Phase 1, Phase 2
23 Cord Blood Stem Cell Transplantation Study (COBLT) Completed NCT00000603 Phase 2
24 Non-Myeloablative Allogeneic Hematopoietic Peripheral Blood Stem Cell Transplantation for Hematologic Malignancies and Disorders Completed NCT00053989 Phase 2 cyclophosphamide;fludarabine phosphate;methylprednisolone;mycophenolate mofetil;tacrolimus
25 A Phase 1/2 Trial of SRA737 (a Chk1 Inhibitor) Administered Orally in Subjects With Advanced Cancer Completed NCT02797964 Phase 1, Phase 2 SRA737
26 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
27 Pilot Study of Metformin for Patients With Fanconi Anemia Recruiting NCT03398824 Phase 2 metformin HCl
28 A Phase 2 Clinical Trial to Evaluate the Efficacy of the Infusion of Autologous CD34+ Cells Transduced With a Lentiviral Vector Carrying the FANCA Gene in Pediatric Subjects With Fanconi Anemia Subtype A Recruiting NCT04248439 Phase 2
29 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
30 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
31 Quercetin Chemoprevention for Squamous Cell Carcinoma in Patients With Fanconi Anemia Recruiting NCT03476330 Phase 2 Quercetin (dietary supplement)
32 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
33 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
34 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
35 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
36 Hematopoietic Stem Cell Transplantation in High Risk Patients With Fanconi Anemia MT2002-02 Recruiting NCT00258427 Phase 2 busulfan;cyclophosphamide;fludarabine phosphate;methylprednisolone
37 Eltrombopag for Patients With Fanconi Anemia Recruiting NCT03206086 Phase 2 Eltrombopag
38 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
39 Evaluating Immune Checkpoint Inhibition In Solid Tumor Patients With Homologous Recombination Repair Deficiency Recruiting NCT03274661 Phase 2 Pembrolizumab 200 mg Q3W
40 Trial of Maintenance With Niraparib in Patients With Stage III, Stage IV or Platinum-sensitive Recurrent Uterine Serous Carcinoma Recruiting NCT04080284 Phase 2 Niraparib
41 Acute GVHD Suppression Using Costimulation Blockade to Expand Non-malignant Transplant (ASCENT) Recruiting NCT03924401 Phase 2 Abatacept
42 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
43 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
44 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
45 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
46 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]) Active, not recruiting NCT02565901 Phase 1, Phase 2 Carboplatin;Docetaxel;Sirolimus
47 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
48 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
49 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
50 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

Search NIH Clinical Center for Fanconi Syndrome

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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, Breast, T Cells, Liver, Myeloid
Sources

Publications for Fanconi Syndrome

About this section

Articles related to Fanconi Syndrome:

(show top 50) (show all 1376)
# Title Authors PMID Year
1
Bone and Mineral Metabolism in Children with Nephropathic Cystinosis Compared with other CKD Entities. 61
32413117 2020
2
Nephropathic cystinosis: an update on genetic conditioning. 61
32564281 2020
3
Cell-Based Phenotypic Drug Screening Identifies Luteolin as Candidate Therapeutic for Nephropathic Cystinosis. 61
32503896 2020
4
Osteomalacia and renal failure due to Fanconi syndrome caused by long-term low-dose Adefovir Dipivoxil: a case report. 61
32503675 2020
5
Altered proximal tubule fatty acid utilization, mitophagy, fission and supercomplexes arrangement in experimental Fanconi syndrome are ameliorated by sulforaphane-induced mitochondrial biogenesis. 61
32315768 2020
6
Renal impairment: an unnecessary barrier to HIV prevention. 61
32576363 2020
7
Primary Sjӧgren's syndrome with renal Fanconi syndrome: Good responses to treatment with glucocorticoids. 61
32418614 2020
8
Relapsing Tubulointerstitial Nephritis with Antimitochondrial M2 Antibody Accompanied by Pulmonary Involvement. 61
32051384 2020
9
Bone Disease in Nephropathic Cystinosis: Beyond Renal Osteodystrophy. 61
32354056 2020
10
A role for OCRL in glomerular function and disease. 61
31811534 2020
11
Immune Checkpoint Inhibitor-induced Fanconi Syndrome. 61
32431966 2020
12
Hypophosphatemic Osteomalacia due to Adefovir-induced Fanconi Syndrome. 61
32289307 2020
13
Proteomic analysis of rat kidney under maleic acid treatment by SWATH-MS technology. 61
31677360 2020
14
Life-threatening rhabdomyolysis and Fanconi syndrome related to tenofovir disoproxil fumarate administration in an HIV-infected patient. 61
31506209 2020
15
[The 474th case: anemia, ostealgia, proteinuria]. 61
32074693 2020
16
An uncommon case of arthrogryposis, renal dysfunction, and cholestasis (ARC) syndrome and review of the renal involvement: Questions. 61
31463585 2020
17
Changes in kidney function among men having sex with men starting on demand tenofovir disoproxil fumarate - emtricitabine for HIV pre-exposure prophylaxis. 61
32086878 2020
18
Neuropsychological and neuroanatomical phenotype in 17 patients with cystinosis. 61
32102670 2020
19
Mitochondrial DNA mutations in renal disease: an overview. 61
31925537 2020
20
Lowe syndrome - Case report with a novel mutation in the oculocerebrorenal gene. 61
32129227 2020
21
Incorporating ifosfamide into salvia oil-based nanoemulsion diminishes its nephrotoxicity in mice inoculated with tumor. 61
31988852 2020
22
A Novel CLCN5 Splice Site Mutation in a Boy with Incomplete Phenotype of Dent Disease. 61
31687264 2019
23
Molecular Basis for Autosomal-Dominant Renal Fanconi Syndrome Caused by HNF4A. 61
31875549 2019
24
Mitochondrial Dynamics of Proximal Tubular Epithelial Cells in Nephropathic Cystinosis. 61
31888107 2019
25
Molecular based newborn screening in Germany: Follow-up for cystinosis. 61
31641587 2019
26
Protection of Cystinotic Mice by Kidney-Specific Megalin Ablation Supports an Endocytosis-Based Mechanism for Nephropathic Cystinosis Progression. 61
31548351 2019
27
A case of entecavir-induced Fanconi syndrome. 61
31154657 2019
28
Transient Fanconi Syndrome After Treatment with Firocoxib, Cefadroxil, Tramadol, and Famotidine in a Maltese. 61
31525093 2019
29
Canagliflozin-induced Fanconi syndrome in a patient with previously unrecognized type 1 diabetes. 61
31724039 2019
30
Fanconi Syndrome and Tenofovir Alafenamide. 61
31610561 2019
31
Fanconi Syndrome and Tenofovir Alafenamide. 61
31610562 2019
32
CTNS mRNA molecular analysis revealed a novel mutation in a child with infantile nephropathic cystinosis: a case report. 61
31672123 2019
33
Proximal renal tubular acidosis with and without Fanconi syndrome. 61
31474092 2019
34
Fibroblast growth factor 23 and phosphate homeostasis. 61
31335449 2019
35
[Mitochondrial DNA deletion syndrome: a case report and literature review]. 61
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Management of bone disease in cystinosis: Statement from an international conference. 61
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Fanconi syndrome due to tenofovir disoproxil fumarate (TDF) after liver transplantation. 61
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Oh cystinosin: let me count the ways! 61
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Learning Physiology From Inherited Kidney Disorders. 61
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40
Kidney Biopsy Findings in a Patient With Valproic Acid-Associated Fanconi Syndrome. 61
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Phosphate matters when investigating hypercalcemia: a mutation in SLC34A3 causing HHRH 61
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42
Refractory ventricular tachycardia storm associated with severe hypokalemia in Fanconi syndrome. 61
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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
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Osteomalacia and Fanconi Syndrome Induced by Adefovir. 61
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Fanconi Syndrome and Tenofovir Alafenamide: A Case Report. 61
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C-Terminal Fibroblast Growth Factor-23 Levels in Non-Nutritional Hypophosphatemic Rickets. 61
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Potential use of stem cells as a therapy for cystinosis. 61
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Case study of an inborn error manifested in the elderly: A woman with adult-onset mitochondrial disease mimicking systemic vasculitis. 61
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Protein O-GlcNAcylation Is Essential for the Maintenance of Renal Energy Homeostasis and Function via Lipolysis during Fasting and Diabetes. 61
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The aminoglycoside geneticin permits translational readthrough of the CTNS W138X nonsense mutation in fibroblasts from patients with nephropathic cystinosis. 61
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Sources

Variations for Fanconi Syndrome

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Expression for Fanconi Syndrome

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Search GEO for disease gene expression data for Fanconi Syndrome.
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Pathways for Fanconi Syndrome

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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

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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

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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
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