MCID: FNC004
MIFTS: 54

Fanconi Syndrome

Categories: Rare diseases, Nephrological diseases

Aliases & Classifications for Fanconi Syndrome

MalaCards integrated aliases for Fanconi Syndrome:

Name: Fanconi Syndrome 12 72 49 28 41 14 69
De Toni-Fanconi Syndrome 12 49
Adult Fanconi Syndrome 12 69
Cystinosis, Infantile Nephropathic 69
Infantile Nephropathic Cystinosis 12
De Toni-Debre-Fanconi Syndrome 69
Congenital Fanconi Syndrome 12
Toni-Debre-Fanconi Syndrome 49
Fanconi-De Toni Syndrome 12
Fanconi-De-Toni Syndrome 12
Fanconi-Bickel Syndrome 69
Detoni Fanconi Syndrome 12
Lignac-Fanconi Syndrome 12
Adult Fanconi Anemia 12
Fanconi Anemia 69

Classifications:



External Ids:

Disease Ontology 12 DOID:1062
MeSH 41 D005198
NCIt 46 C3034 C4377

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 cystinosis. An important gene associated with Fanconi Syndrome is HNF4A (Hepatocyte Nuclear Factor 4 Alpha), and among its related pathways/superpathways are Metabolism and Selenium Micronutrient Network. The drugs Acetylcysteine and Anti-Infective Agents have been mentioned in the context of this disorder. Affiliated tissues include bone, bone marrow and kidney, and related phenotypes are growth/size/body region and homeostasis/metabolism

Wikipedia : 72 Fanconi syndrome or Fanconi\'s syndrome (English: /fɑːnˈkoʊni/, /fæn-/) is a syndrome of inadequate... more...

Related Diseases for Fanconi Syndrome

Diseases in the Fanconi Syndrome family:

Fanconi-Like Syndrome Primary Fanconi Syndrome

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

(show top 50) (show all 161)
# Related Disease Score Top Affiliating Genes
1 primary fanconi syndrome 33.7 EHHADH SLC34A1
2 cystinosis 32.0 CUBN LRP2
3 dent disease 1 31.8 CLCN5 CUBN LRP2 OCRL
4 lowe oculocerebrorenal syndrome 31.7 CLCN5 LRP2 OCRL
5 hypophosphatemic rickets, x-linked recessive 30.0 CLCN5 SLC34A1
6 rickets 29.7 CLCN5 PTH SLC34A1
7 nephrolithiasis, calcium oxalate 29.6 CLCN5 SLC34A1
8 aminoaciduria 29.2 CLCN5 EHHADH HNF4A OCRL SLC34A1
9 hypophosphatemia 29.1 CLCN5 PTH SLC34A1
10 acquired monoclonal ig light chain-associated fanconi syndrome 12.0
11 fanconi renotubular syndrome 1 11.5
12 fanconi anemia, complementation group a 11.4
13 fanconi-bickel syndrome 11.2
14 cystinosis, nephropathic 11.1
15 fanconi renotubular syndrome 4 with maturity-onset diabetes of the young 11.0
16 dent disease 2 10.8
17 adult-onset still's disease 10.8
18 wissler's syndrome 10.8
19 fanconi-like syndrome 10.3 CUBN LRP2
20 renal tubular transport disease 10.3 CLCN5 OCRL
21 osteomalacia 10.3
22 hepatoid adenocarcinoma 10.2 ALB HNF4A
23 3-methylglutaconic aciduria, type i 10.2 CUBN EHHADH
24 hepatitis 10.2
25 hepatitis b 10.1
26 renal tubular acidosis 10.1
27 myeloma, multiple 10.0
28 diabetes insipidus 10.0
29 diabetes insipidus, nephrogenic, autosomal 10.0
30 interstitial nephritis 10.0
31 renal tubular acidosis, proximal 9.9
32 pulmonary alveolar microlithiasis 9.9 PTH SLC34A1
33 hypophosphatemic rickets, x-linked dominant 9.9 PTH SLC34A1
34 phosphorus metabolism disease 9.9 PTH SLC34A1
35 biliary cirrhosis, primary, 1 9.8
36 primary biliary cirrhosis 9.8
37 uveitis 9.8
38 hyperparathyroidism 9.8
39 calciphylaxis 9.8 ALB PTH
40 hypercalciuria, absorptive, 2 9.8
41 cystinuria 9.8
42 kearns-sayre syndrome 9.8
43 leukemia 9.8
44 nephrotic syndrome 9.8
45 histiocytosis 9.8
46 myopathy 9.8
47 kidney disease 9.8
48 primary hypomagnesemia 9.8 PTH SLC2A2
49 mineral metabolism disease 9.8 CLCN5 PTH
50 hypophosphatemic rickets with hypercalciuria, hereditary 9.7 PTH SLC34A1

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



Diseases related to Fanconi Syndrome

Symptoms & Phenotypes for Fanconi Syndrome

MGI Mouse Phenotypes related to Fanconi Syndrome:

43
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.02 CUBN EHHADH HNF4A LRP2 NDUFAF6 OCRL
2 homeostasis/metabolism MP:0005376 9.96 ALB CLCN5 CUBN EHHADH HNF4A LRP2
3 mortality/aging MP:0010768 9.61 LRP2 OCRL PTH SLC2A2 SLC34A1 ALB
4 liver/biliary system MP:0005370 9.55 ALB CLCN5 EHHADH HNF4A SLC2A2
5 renal/urinary system MP:0005367 9.1 ALB CLCN5 CUBN LRP2 OCRL SLC34A1

Drugs & Therapeutics for Fanconi Syndrome

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

(show top 50) (show all 123)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Acetylcysteine Approved, Investigational Phase 4 616-91-1 12035
2 Anti-Infective Agents Phase 4,Phase 2,Phase 3,Phase 1,Early Phase 1
3 Antiviral Agents Phase 4,Phase 2,Phase 3,Phase 1,Early Phase 1
4 Protective Agents Phase 4,Phase 2,Phase 1
5 Antidotes Phase 4
6 Antioxidants Phase 4,Phase 1
7 Expectorants Phase 4
8 N-monoacetylcystine Phase 4
9 Respiratory System Agents Phase 4
10 cysteine Nutraceutical Phase 4
11
alemtuzumab Approved, Investigational Phase 2, Phase 3,Phase 1 216503-57-0
12
Busulfan Approved, Investigational Phase 2, Phase 3,Phase 1,Early Phase 1 55-98-1 2478
13
Cyclophosphamide Approved, Investigational Phase 2, Phase 3, Phase 1, Early Phase 1 50-18-0, 6055-19-2 2907
14
Fludarabine Approved Phase 2, Phase 3, Phase 1, Early Phase 1 21679-14-1, 75607-67-9 30751
15
Vidarabine Approved, Investigational Phase 2, Phase 3,Phase 1,Early Phase 1 24356-66-9 21704 32326
16
Cysteamine Approved, Investigational Phase 3,Phase 1,Phase 2 60-23-1 6058
17
Miconazole Approved, Investigational, Vet_approved Phase 2, Phase 3,Phase 1 22916-47-8 4189
18
Mycophenolate mofetil Approved, Investigational Phase 2, Phase 3,Phase 1 128794-94-5 5281078
19
Mycophenolic acid Approved Phase 2, Phase 3,Phase 1 24280-93-1 446541
20
Everolimus Approved Phase 2, Phase 3 159351-69-6 6442177
21
Sirolimus Approved, Investigational Phase 2, Phase 3 53123-88-9 46835353 6436030 5284616
22 Alkylating Agents Phase 2, Phase 3, Phase 1, Early Phase 1
23 Antimetabolites Phase 2, Phase 3, Phase 1, Early Phase 1
24 Antimetabolites, Antineoplastic Phase 2, Phase 3, Phase 1, Early Phase 1
25 Antirheumatic Agents Phase 2, Phase 3, Phase 1, Early Phase 1
26 Immunosuppressive Agents Phase 2, Phase 3, Phase 1, Early Phase 1
27 Anti-Bacterial Agents Phase 2, Phase 3,Phase 1
28 Antibiotics, Antitubercular Phase 2, Phase 3,Phase 1
29 Antifungal Agents Phase 2, Phase 3,Phase 1
30 Antitubercular Agents Phase 2, Phase 3,Phase 1
31
Melphalan Approved Phase 2,Phase 1 148-82-3 460612 4053
32
Methylprednisolone Approved, Vet_approved Phase 2,Phase 1 83-43-2 6741
33
Prednisolone Approved, Vet_approved Phase 2,Phase 1 50-24-8 5755
34
Lenograstim Approved, Investigational Phase 1, Phase 2 135968-09-1
35
Deferasirox Approved, Investigational Phase 2 201530-41-8 5493381
36
Deferoxamine Approved, Investigational Phase 2 70-51-9 2973
37
Iron Approved Phase 2 7439-89-6 23925
38
Bortezomib Approved, Investigational Phase 2 179324-69-7 387447 93860
39
Dopamine Approved Phase 2 51-61-6, 62-31-7 681
40
Methamphetamine Approved, Illicit Phase 2 537-46-2 10836
41
Deferiprone Approved Phase 2 30652-11-0 2972
42
Tacrolimus Approved, Investigational Phase 2,Phase 1 104987-11-3 445643 439492
43 Thiotepa Approved, Investigational Phase 2,Phase 1 52-24-4 5453
44
Metformin Approved Phase 2 657-24-9 4091 14219
45
Danazol Approved Phase 1, Phase 2 17230-88-5 28417
46
Fosphenytoin Approved, Investigational Phase 1, Phase 2 93390-81-9 56339
47
Phenytoin Approved, Vet_approved Phase 1, Phase 2 57-41-0 1775
48 Talazoparib Investigational Phase 2 1207456-01-6
49 Antiemetics Phase 2,Phase 1
50 Anti-Inflammatory Agents Phase 2,Phase 1

Interventional clinical trials:

(show top 50) (show all 89)

# Name Status NCT ID Phase Drugs
1 Fanconi Syndrome Due to ARVs in HIV-Infected Persons Completed NCT00499187 Phase 4
2 N Acetyl Cysteine for Cystinosis Patients Completed NCT01614431 Phase 4 N acetyl cysteine;N acetyl cysteine
3 Risk-Adapted Allogeneic Stem Cell Transplantation For Mixed Donor Chimerism In Patients With Non-Malignant Diseases Unknown status NCT01019876 Phase 2, Phase 3 Fludarabine;Cyclophosphamide;Cyclophosphamide 40;Cyclophosphamide 30
4 Phase 3 Study of Cysteamine Bitartrate Delayed-release (RP103) Compared to Cystagon® in Patients With Cystinosis Completed NCT01000961 Phase 3 Cystagon® (Cysteamine Bitartrate);Cysteamine Bitartrate Delayed-release Capsules (RP103)
5 Long-Term Safety Follow-up Study of Cysteamine Bitartrate Delayed-release Capsules (RP103) Completed NCT01197378 Phase 3 Cysteamine Bitartrate Delayed-release Capsules (RP103)
6 Safety/Effectiveness Study of Cysteamine Bitartrate Delayed-release Capsules (RP103) in Cysteamine Treatment Naive Patients With Cystinosis Completed NCT01744782 Phase 3 RP103
7 Open-Label, Safety and Superior Effectiveness Study of Cysteamine Bitartrate Delayed-Release Capsules (RP103) in Cystinosis Completed NCT01733316 Phase 3 RP103;Cystagon®
8 TBI Dose De-escalation for Fanconi Anemia Recruiting NCT00352976 Phase 2, Phase 3 Cyclophosphamide;Fludarabine;Mycophenolate Mofetil;Sirolimus
9 Umbilical Cord Blood for Stem Cell Transplantation in Treating Young Patients With Malignant or Nonmalignant Diseases Unknown status NCT00084695 Phase 2 busulfan;cyclophosphamide;fludarabine phosphate;melphalan;methylprednisolone
10 Multicenter Transplant Study for Fanconi Anemia Completed NCT01082133 Phase 2 Chemotherapy
11 Hematopoietic Stem Cell Transplant for Fanconi Anemia Completed NCT01071239 Phase 2
12 Mobilization and Collection of Peripheral Blood Stem Cells in Patients With Fanconi Anemia Using G-CSF and AMD3100 Completed NCT00479115 Phase 1, Phase 2 AMD3100
13 Hematopoietic Stem Cell Transplantation for the Treatment of Patients With Fanconi Anemia Lacking a Genotypically Identical Donor, Using a Chemotherapy Only Cytoreduction With Busulfan, Cyclophosphamide and Fludarabine Completed NCT00987480 Phase 2 Busulfan, fludarabine, & cyclophosphamide with immunosuppression with ATG and cyclosporine.
14 Phase I/II Study of Total Body Irradiation, Cyclophosphamide, and Fludarabine Followed by Alternate Donor Hematopoietic Cell Transplantation in Patients With Fanconi's Anemia Completed NCT00005898 Phase 1, Phase 2 anti-thymocyte globulin;cyclophosphamide;cyclosporine;filgrastim;fludarabine;methylprednisolone
15 Pilot Study of Safety, Tolerability, Pharmacokinetics/Pharmacodynamics of RP103 Compared to Cystagon® in Patients With Cystinosis Completed NCT00872729 Phase 1, Phase 2 Cystagon®;RP103
16 Study of Deferasirox in Iron Overload From Beta-thalassemia Unable to be Treated With Deferoxamine or Chronic Anemias Completed NCT00061763 Phase 2 Deferasirox
17 Medical Treatment for Diamond Blackfan Anemia Completed NCT00001749 Phase 2 Antithymocyte globulin;Cyclosporine
18 Phase II Pilot Study of Granulocyte Colony-Stimulating Factor for Inherited Bone Marrow Failure Syndromes Completed NCT00004787 Phase 2 filgrastim
19 Bortezomib Followed by High-Dose Melphalan and Bortezomib as Conditioning Regimen for Tandem Stem Cell Transplants Completed NCT00307086 Phase 2 Bortezomib;Melphalan
20 Busulfan, Antithymocyte Globulin, and Fludarabine Followed By a Donor Stem Cell Transplant in Treating Young Patients With Blood Disorders, Bone Marrow Disorders, Chronic Myelogenous Leukemia in First Chronic Phase, or Acute Myeloid Leukemia in First Remi Completed NCT00305708 Phase 1, Phase 2 busulfan;fludarabine phosphate
21 Cord Blood Stem Cell Transplantation Study (COBLT) Completed NCT00000603 Phase 2
22 Cysteamine Eye Drops to Treat Corneal Crystals in Cystinosis Completed NCT00001213 Phase 2 Cysteamine
23 A Protocol to Allow Treatment With ICL670 for Patients With or at Risk of Life-threatening Complications of Transfusional Iron Overload Who Are Unable to Tolerate Other Iron Chelators Because of Documented Severe Toxicity Completed NCT01044186 Phase 2 ICL670
24 Hematopoietic Stem Cell Transplantation in High Risk Patients With Fanconi Anemia Recruiting NCT00258427 Phase 2 busulfan;cyclophosphamide;fludarabine phosphate;methylprednisolone
25 Mobilization and Collection of Peripheral Blood Stem Cells in Patients With Fanconi Anemia Using G-CSF and Plerixafor Recruiting NCT02678533 Phase 1, Phase 2 G-CSF;Plerixafor
26 Cytoxan, Fludara, and Antithymocyte Globulin Conditioning Followed By Stem Cell Transplant in Treating Fanconi Anemia Recruiting NCT00630253 Phase 1, Phase 2 Cyclophosphamide;Fludarabine;Methylprednisolone;Filgrastim;Cyclosporine;Mycophenolate Mofetil
27 Clinical Phase II Trial to Evaluate CD34+ Cells Mobilization and Collection in Patients With Fanconi Anemia for Subsequent Transduction With a Lentiviral Vector Carring FANCA Gene. FANCOSTEM-1 Recruiting NCT02931071 Phase 2 filgrastim;plerixafor
28 Lentiviral-mediated Gene Therapy of Fanconi Anemia Patients Subtype A Recruiting NCT03157804 Phase 1, Phase 2 Plerixafor
29 HSCT for Patients With Fanconi Anemia Using Risk-Adjusted Chemotherapy Recruiting NCT02143830 Phase 2 Busulfan;Cyclophosphamide;Fludarabine;rabbit ATG;G-CSF
30 Phase II Talazoparib in BRCA1 +BRCA2 Wild-Type &Triple-Neg /HER2-Negative Breast Cancer /SolidTumors Recruiting NCT02401347 Phase 2 Talazoparib Tosylate
31 A Study of LY2606368 (Prexasertib) in Patients With Solid Tumors With Replicative Stress or Homologous Repair Deficiency Recruiting NCT02873975 Phase 2 LY2606368
32 Fludarabine Phosphate, Cyclophosphamide, and Total-Body Irradiation Followed by Donor Bone Marrow Transplant, Mycophenolate Mofetil, and Cyclosporine in Treating Patients With Fanconi Anemia Active, not recruiting NCT00453388 Phase 2 Cyclophosphamide;Cyclosporine;Fludarabine Phosphate;Mycophenolate Mofetil
33 Carfilzomib + High Dose Melphalan as Preparative Regimen for Autologous Hematopoietic Stem Cell Transplantation Active, not recruiting NCT01690143 Phase 1, Phase 2 Carfilzomib;Melphalan
34 CD34+Selection for Partially Matched Family or Matched Unrelated Adult Donor Transplant Active, not recruiting NCT01049854 Phase 2 Full Intensity with TBI;Full Intensity;Reduced Intensity;Reduced Intensity (Fanconi)
35 Study of the PARP Inhibitor BMN 673 in Advanced Cancer Patients With Somatic Alterations in BRCA1/2, Mutations/Deletions in PTEN or PTEN Loss, a Homologous Recombination Defect, Mutations/Deletions in Other BRCA Pathway Genes and Germline Mutation in BRCA Active, not recruiting NCT02286687 Phase 2 Talazoparib Tosylate
36 Pilot Study of Metformin for Patients With Fanconi Anemia Not yet recruiting NCT03398824 Phase 2 metformin HCl
37 Eltrombopag for People With Fanconi Anemia Not yet recruiting NCT03206086 Phase 2 Eltrombopag
38 Safety and Efficacy Trial of Danazol in Patients With Fanconi Anemia or Dyskeratosis Congenita Terminated NCT01001598 Phase 1, Phase 2 danazol
39 Stem Cell Transplantation for Fanconi Anemia Terminated NCT00167206 Phase 1, Phase 2 Cyclophosphamide, Fludarabine
40 Antibody Conditioning Regimen For Allogeneic Donor Stem Cell Transplantation Of Patients With Fanconi Anemia Terminated NCT00590460 Phase 1, Phase 2 Fludarabine
41 Stem Cell Transplant for Hematologic Diseases Terminated NCT00058825 Phase 1, Phase 2 Fludarabine;FK506 (Tacrolimus) or Cyclosporine
42 Double Cord Blood Transplantation Terminated NCT00801931 Phase 1, Phase 2 TBI, Thiotepa, Cyclophosphamide, ATG;Busulfan, Melphalan, Rabbit ATG;Busulfan, Fludarabine, Alemtuzumab;Busulfan, Fludarabine, Rabbit ATG;Fludarabine, Cyclophosphamide, ATG;Busulfan, Cyclosphosphamide, Rabbit ATG,
43 Phase I Study of Amifostine in Patients With Bone Marrow Failure Related to Fanconi's Anemia Unknown status NCT00006127 Phase 1 amifostine
44 Phase I Pilot Study of CD34 Enriched, Fanconi's Anemia Complementation Group C Gene Transduced Autologous Peripheral Blood Stem Cell Transplantation in Patients With Fanconi's Anemia Unknown status NCT00005896 Phase 1 filgrastim
45 Oxandrolone for the Treatment of Bone Marrow Aplasia in Fanconi Anemia Completed NCT00243399 Phase 1 Oxandrolone
46 Cyclophosphamide in Treating Patients Who Are Undergoing a Donor Bone Marrow Transplant for Fanconi's Anemia Completed NCT00317876 Phase 1 cyclophosphamide;cyclosporine;methotrexate
47 Bone Marrow Cell Gene Transfer in Individuals With Fanconi Anemia Completed NCT00272857 Phase 1
48 Gene Therapy for the Treatment of Fanconi's Anemia Type C Completed NCT00001399 Phase 1 Transduced CD34+ Cells
49 Low-Dose Total-Body Irradiation and Fludarabine Phosphate Followed by Unrelated Donor Stem Cell Transplant in Treating Patients With Fanconi Anemia Completed NCT00093743 Phase 1 fludarabine phosphate;cyclosporine;mycophenolate mofetil
50 Quercetin in Children With Fanconi Anemia; a Pilot Study Recruiting NCT01720147 Phase 1 Quercetin (dietary supplement)

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 28

Anatomical Context for Fanconi Syndrome

MalaCards organs/tissues related to Fanconi Syndrome:

38
Bone, Bone Marrow, Kidney, Myeloid, T Cells, Eye, Liver

Publications for Fanconi Syndrome

Articles related to Fanconi Syndrome:

(show top 50) (show all 502)
# Title Authors Year
1
Heavy-Chain Diseases and Myeloma-Associated Fanconi Syndrome: an Update. ( 29326807 )
2018
2
Pathologic femoral fracture due to tenofovir-induced Fanconi syndrome in patient with chronic hepatitis B: A case report. ( 29145330 )
2017
3
Acquired Fanconi syndrome in two dogs following long-term consumption of pet jerky treats in Japan: case report. ( 28381666 )
2017
4
Growth hormone therapy for a patient with idiopathic Fanconi syndrome and growth hormone deficiency. ( 28509131 )
2017
5
Early Onset of Tenofovir-Related Fanconi Syndrome in a Child with Acute Hepatitis B: A Case Report and Systematic Review of Literature. ( 29270324 )
2017
6
Fanconi syndrome and neonatal diabetes: phenotypic heterogeneity in patients with GLUT2 defects. ( 29116606 )
2017
7
Renal Fanconi syndrome with meropenem/amoxicillin-clavulanate during treatment of extensively drug-resistant tuberculosis. ( 29284688 )
2017
8
Adefovir dipivoxil-induced Fanconi syndrome and its predictive factors: A study of 28 cases. ( 28123560 )
2017
9
Long-term adefovir therapy may induce Fanconi syndrome: A report of four cases. ( 28672949 )
2017
10
Ectopic germinal center and megalin defect in primary Sjogren syndrome with renal Fanconi syndrome. ( 28577559 )
2017
11
Tenofovir alafenamide as a Rescue Therapy in a Cirrhotic HBV Patient with a Hystory of Fanconi Syndrome and Multidrug Resistance: A Case Report. ( 28870666 )
2017
12
Hyperinsulinaemic hypoglycaemia, renal Fanconi syndrome and liver disease due to a mutation in the HNF4A gene. ( 28458902 )
2017
13
Renal Fanconi syndrome in distal renal tubular acidosis. ( 28293727 )
2017
14
The renal Fanconi syndrome in cystinosis: pathogenic insights and therapeutic perspectives. ( 27990015 )
2017
15
Fainting Fanconi syndrome clarified by proxy: a case report. ( 28693455 )
2017
16
Free light chain-associated Fanconi syndrome in an adolescent. ( 29205674 )
2017
17
Transient Fanconi syndrome in two preterm infants with hydronephrosis and urinary tract infection. ( 28509132 )
2017
18
The Mechanism of Valproic Acid-Induced Fanconi Syndrome Involves Mitochondrial Dysfunction and Oxidative Stress in Rat Kidney. ( 28141910 )
2017
19
Fanconi syndrome in the adulthood. The role of early diagnosis and treatment. ( 29199190 )
2017
20
Nephrolithiasis and Osteomalacia associated with adefovir-induced Fanconi syndrome in a patient with hepatitis B. ( 28851305 )
2017
21
Concomitant AIDS cholangiopathy and Fanconi syndrome as complications of HIV in a single patient. ( 29167218 )
2017
22
Endocytic receptor LRP2/megalin-of holoprosencephaly and renal Fanconi syndrome. ( 28497274 )
2017
23
Aminoaciduria Caused by Fanconi Syndrome in a Heifer. ( 28109116 )
2017
24
A case of Fanconi syndrome due to a deferasirox overdose and a trial of plasmapheresis. ( 28556939 )
2017
25
Proximal Renal Tubular Acidosis (Fanconi syndrome) Induced by Apremilast: A Case Report. ( 28823583 )
2017
26
Short Communication: Resolution of Tenofovir Disoproxil Fumarate Induced Fanconi Syndrome with Switch to Tenofovir Alafenamide Fumarate in a HIV-1 and Hepatitis B Coinfected Patient. ( 28403627 )
2017
27
Incidence of renal Fanconi syndrome in patients taking antiretroviral therapy including tenofovir disoproxil fumarate. ( 28764611 )
2017
28
Intraretinal Crystals in Nephopathic Cystinosis and Fanconi Syndrome. ( 28278342 )
2017
29
Adefovir-induced Fanconi syndrome associated with osteomalacia. ( 28859264 )
2017
30
Kidney failure caused by tubular intersticial intersticial nephropathy with Fanconi syndrome after treatment with zoledronic acid. ( 29122217 )
2017
31
Progressive myoclonic epilepsy with Fanconi syndrome. ( 27293772 )
2016
32
Tenofovir-Induced Fanconi Syndrome Presenting as Hypokalemic Periodic Paralysis. ( 27574926 )
2016
33
Topiramate as a rare cause of reversible Fanconi syndrome and acute kidney injury: a case report and literature review. ( 26908388 )
2016
34
Current anti-myeloma therapies in renal manifestations of monoclonal light chain-associated Fanconi syndrome: a retrospective series of 49 patients. ( 27435002 )
2016
35
SjAPgren's syndrome complicated with Fanconi syndrome and Hashimoto's thyroiditis: Case report and literature review. ( 26966155 )
2016
36
Serum FGF23 levels may not be associated with serum phosphate and 1,25-dihydroxyvitamin D levels in patients with Fanconi syndrome-induced hypophosphatemia. ( 27679714 )
2016
37
Fanconi Anemia and Fanconi Syndrome: Time to Correct the Misnomers. ( 27571122 )
2016
38
Reporting cases of Fanconi syndrome in dogs in the UK. ( 27179094 )
2016
39
A Tenofovir-induced Fanconi syndrome in a patient with chronic hepatitis B monoinfection. ( 26845606 )
2016
40
Tubulointerstitial nephritis and Fanconi syndrome in a patient with primary SjAPgren's syndrome accompanied by antimitochondrial antibodies: A case report and review of the literature. ( 27142563 )
2016
41
Outcomes of renal proximal tubular dysfunctions with Fanconi syndrome caused by sodium valproate. ( 26896192 )
2016
42
Acadian variant of Fanconi syndrome is caused by mitochondrial respiratory chain complex I deficiency due to a non-coding mutation in complex I assembly factor NDUFAF6. ( 27466185 )
2016
43
Fanconi Syndrome: A Rare Initial Presentation of Acute Lymphoblastic Leukemia. ( 27408343 )
2016
44
Successful treatment of proximal renal tubular acidosis and Fanconi syndrome with vitamin D replacement. ( 27424705 )
2016
45
Fanconi syndrome due to light chain proximal tubulopathy in a patient with multiple myeloma. ( 27424703 )
2016
46
Renal Fanconi Syndrome and Hypophosphatemic Rickets in the Absence of Xenotropic and Polytropic Retroviral Receptor in the Nephron. ( 27799484 )
2016
47
Light chain Fanconi syndrome in a patient with acute myeloid leukemia and monoclonal gammopathy of undetermined significance. ( 28508985 )
2016
48
Renal Fanconi Syndrome Is Caused by a Mistargeting-Based Mitochondriopathy. ( 27160910 )
2016
49
Fanconi syndrome in paraquat poisoning. ( 27728607 )
2016
50
Fanconi Syndrome Associated with Hyponatremia in Two Patients with Legionella Pneumonia. ( 27904113 )
2016

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
13.49 ALAD ALB CUBN EHHADH LRP2 NDUFAF6
2
Show member pathways
11.67 ALB CUBN LRP2
3
Show member pathways
11.23 CLCN5 HNF4A SLC2A2
4 10.44 ALB HNF4A SLC2A2

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 9.8 ALB CLCN5 CUBN LRP2 OCRL
2 endosome GO:0005768 9.65 CLCN5 CUBN LRP2 OCRL SLC34A1
3 apical plasma membrane GO:0016324 9.62 CUBN LRP2 SLC2A2 SLC34A1
4 apical part of cell GO:0045177 9.54 CLCN5 CUBN LRP2
5 clathrin-coated pit GO:0005905 9.33 CUBN LRP2 OCRL
6 brush border membrane GO:0031526 9.13 CUBN LRP2 SLC34A1
7 brush border GO:0005903 8.92 CUBN LRP2 SLC2A2 SLC34A1

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

# Name GO ID Score Top Affiliating Genes
1 lipid metabolic process GO:0006629 9.65 CUBN EHHADH HNF4A LRP2 OCRL
2 receptor-mediated endocytosis GO:0006898 9.61 ALB CUBN LRP2
3 lipoprotein transport GO:0042953 9.4 CUBN LRP2
4 vitamin D metabolic process GO:0042359 9.37 CUBN LRP2
5 response to mercury ion GO:0046689 9.32 ALAD SLC34A1
6 response to parathyroid hormone GO:0071107 9.16 PTH SLC34A1
7 response to cadmium ion GO:0046686 9.13 ALAD PTH SLC34A1
8 response to lead ion GO:0010288 8.8 ALAD PTH SLC34A1

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 ALB HNF4A
2 drug binding GO:0008144 8.8 ALB CUBN LRP2

Sources for Fanconi Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
Content
Loading form....