Fanconi Syndrome disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

MCID: FNC004 MIFTS: 52	Fanconi Syndrome Categories: Rare diseases, Nephrological diseases
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Aliases & Classifications for Fanconi Syndrome

MalaCards integrated aliases for Fanconi Syndrome:

Name: Fanconi Syndrome ¹² ⁷⁶ ⁵³ ²⁹ ⁴⁴ ¹⁵ ⁷³

De Toni-Fanconi Syndrome ¹² ⁵³

Adult Fanconi Syndrome ¹² ⁷³

Cystinosis, Infantile Nephropathic ⁷³

Infantile Nephropathic Cystinosis ¹²

De Toni-Debre-Fanconi Syndrome ⁷³

Congenital Fanconi Syndrome ¹²

Toni-Debre-Fanconi Syndrome ⁵³

Fanconi-De Toni Syndrome ¹²

Fanconi-De-Toni Syndrome ¹²

Fanconi-Bickel Syndrome ⁷³

Detoni Fanconi Syndrome ¹²

Lignac-Fanconi Syndrome ¹²

Adult Fanconi Anemia ¹²

Fanconi Anemia ⁷³

Classifications:

MalaCards categories:
Global: Rare diseases
Anatomical: Nephrological diseases

See all MalaCards categories (disease lists)

External Ids:

Disease Ontology ¹² DOID:1062

MeSH ⁴⁴ D005198

NCIt ⁵⁰ C3034 C4377

SNOMED-CT ⁶⁸ 236468006 40488004 44673006

UMLS ⁷³ C0015624 C0341703 C1857395 more

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Summaries for Fanconi Syndrome

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

MalaCards based summary : Fanconi Syndrome, also known as de toni-fanconi syndrome, is related to primary fanconi syndrome and dent disease 1. An important gene associated with Fanconi Syndrome is HNF4A (Hepatocyte Nuclear Factor 4 Alpha), and among its related pathways/superpathways are Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds and HIF1Alpha Pathway. The drugs Acetylcysteine and 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 : ⁷⁶ Fanconi syndrome or Fanconi\'s syndrome (English: /fɑːnˈkoʊni/, /fæn-/) is a syndrome of inadequate... more...

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Related Diseases for Fanconi Syndrome

Diseases in the Fanconi Syndrome family:

Fanconi-Like Syndrome

Primary Fanconi Syndrome

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

(show top 50) (show all 145)

#	Related Disease	Score	Top Affiliating Genes
1	primary fanconi syndrome	33.5	EHHADH SLC34A1
2	dent disease 1	32.0	CLCN5 CUBN LRP2 OCRL
3	cystinosis	31.9	CTNS CUBN LRP2
4	lowe oculocerebrorenal syndrome	31.5	CLCN5 LRP2 OCRL
5	hypophosphatemic rickets, x-linked recessive	30.0	CLCN5 SLC34A1
6	hypophosphatemia	29.2	CLCN5 SLC34A1
7	nephrolithiasis, calcium oxalate	29.2	CLCN5 SLC34A1
8	aminoaciduria	28.5	CLCN5 EHHADH HNF4A OCRL SLC34A1
9	acquired monoclonal ig light chain-associated fanconi syndrome	12.0
10	fanconi renotubular syndrome 1	11.5
11	wissler's syndrome	11.4
12	fanconi anemia, complementation group a	11.3
13	fanconi-bickel syndrome	11.2
14	cystinosis, nephropathic	11.1
15	fanconi renotubular syndrome 4 with maturity-onset diabetes of the young	10.9
16	arthrogryposis, renal dysfunction, and cholestasis 1	10.8
17	dent disease 2	10.8
18	adult-onset still's disease	10.8
19	renal tubular transport disease	10.3	CLCN5 OCRL
20	fanconi-like syndrome	10.3	CUBN LRP2
21	osteomalacia	10.3
22	hepatitis	10.2
23	hepatitis b	10.1
24	3-methylglutaconic aciduria, type i	10.1	CUBN EHHADH
25	myeloma, multiple	10.1
26	renal tubular acidosis	10.1
27	rickets	10.1
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	biliary cirrhosis, primary, 1	9.8
33	leukemia	9.8
34	primary biliary cirrhosis	9.8
35	uveitis	9.8
36	hyperparathyroidism	9.8
37	primary biliary cholangitis	9.8
38	cystinuria	9.8
39	kearns-sayre syndrome	9.8
40	nephrotic syndrome	9.8
41	histiocytosis	9.8
42	myopathy	9.8
43	pneumonia	9.8
44	kidney disease	9.8
45	monoclonal gammopathy of uncertain significance	9.8
46	lysinuric protein intolerance	9.7
47	retinitis pigmentosa	9.7
48	leber congenital amaurosis 4	9.7
49	tubulointerstitial nephritis with uveitis	9.7
50	leukemia, acute lymphoblastic	9.7

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

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Symptoms & Phenotypes for Fanconi Syndrome

MGI Mouse Phenotypes related to Fanconi Syndrome:

⁴⁶

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

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Drugs & Therapeutics for Fanconi Syndrome

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

(show top 50) (show all 126)

Name

Status

Phase

Clinical Trials

Cas Number

PubChem Id

Acetylcysteine

Approved, Investigational

Phase 4

616-91-1

12035

Anti-Infective Agents

Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable,Early Phase 1

Antiviral Agents

Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable,Early Phase 1

Protective Agents

Phase 4,Phase 2,Phase 1,Not Applicable

Antidotes

Phase 4

Antioxidants

Phase 4,Phase 1

Expectorants

Phase 4

N-monoacetylcystine

Phase 4

Respiratory System Agents

Phase 4

cysteine

Nutraceutical

Phase 4

alemtuzumab

Approved, Investigational

Phase 2, Phase 3,Phase 1

216503-57-0

Busulfan

Approved, Investigational

Phase 2, Phase 3,Phase 1,Early Phase 1,Not Applicable

55-98-1

2478

Cyclophosphamide

Approved, Investigational

Phase 2, Phase 3,Phase 3,Phase 1,Not Applicable,Early Phase 1

50-18-0, 6055-19-2

2907

Fludarabine

Approved

Phase 2, Phase 3,Phase 3,Phase 1,Not Applicable,Early Phase 1

21679-14-1, 75607-67-9

30751

Vidarabine

Approved, Investigational

Phase 2, Phase 3,Phase 1,Not Applicable,Early Phase 1

24356-66-9

32326 21704

Cysteamine

Approved, Investigational

Phase 3,Phase 1,Phase 2,Not Applicable

60-23-1

6058

Miconazole

Approved, Investigational, Vet_approved

Phase 2, Phase 3,Phase 1,Not Applicable

22916-47-8

4189

Mycophenolate mofetil

Approved, Investigational

Phase 2, Phase 3,Phase 1,Not Applicable

128794-94-5

5281078

Mycophenolic acid

Approved

Phase 2, Phase 3,Phase 1,Not Applicable

24280-93-1

446541

Everolimus

Approved

Phase 2, Phase 3

159351-69-6

6442177

Sirolimus

Approved, Investigational

Phase 2, Phase 3

53123-88-9

5284616 6436030 46835353

Alkylating Agents

Phase 2, Phase 3,Phase 3,Phase 1,Not Applicable,Early Phase 1

Antimetabolites

Phase 2, Phase 3,Phase 3,Phase 1,Not Applicable,Early Phase 1

Antimetabolites, Antineoplastic

Phase 2, Phase 3,Phase 3,Phase 1,Not Applicable,Early Phase 1

Antineoplastic Agents, Alkylating

Phase 2, Phase 3,Phase 3,Phase 1,Not Applicable,Early Phase 1

Antirheumatic Agents

Phase 2, Phase 3,Phase 3,Phase 1,Not Applicable,Early Phase 1

Immunosuppressive Agents

Phase 2, Phase 3,Phase 3,Phase 1,Not Applicable,Early Phase 1

Anti-Bacterial Agents

Phase 2, Phase 3,Phase 1,Not Applicable

Antibiotics, Antitubercular

Phase 2, Phase 3,Phase 1,Not Applicable

Antifungal Agents

Phase 2, Phase 3,Phase 1,Not Applicable

Antitubercular Agents

Phase 2, Phase 3,Phase 1,Not Applicable

Melphalan

Approved

Phase 2,Phase 1,Not Applicable

148-82-3

4053 460612

Methylprednisolone

Approved, Vet_approved

Phase 2,Phase 1,Not Applicable

83-43-2

6741

Prednisolone

Approved, Vet_approved

Phase 2,Phase 1,Not Applicable

50-24-8

5755

Lenograstim

Approved, Investigational

Phase 1, Phase 2,Phase 2,Not Applicable

135968-09-1

Deferasirox

Approved, Investigational

Phase 2

201530-41-8

5493381

Deferoxamine

Approved, Investigational

Phase 2

70-51-9

2973

Iron

Approved

Phase 2

7439-89-6

23925

Bortezomib

Approved, Investigational

Phase 2

179324-69-7

387447 93860

Dopamine

Approved

Phase 2

51-61-6, 62-31-7

681

Methamphetamine

Approved, Illicit

Phase 2

537-46-2

10836

Deferiprone

Approved

Phase 2

30652-11-0

2972

Metformin

Approved

Phase 2

657-24-9

14219 4091

Cisplatin

Approved

Phase 1, Phase 2

15663-27-1

84093 441203 2767

Gemcitabine

Approved

Phase 1, Phase 2

95058-81-4

60750

Tacrolimus

Approved, Investigational

Phase 2,Phase 1

104987-11-3

445643 439492

Thiotepa

Approved, Investigational

Phase 2,Phase 1

52-24-4

5453

Danazol

Approved

Phase 1, Phase 2

17230-88-5

28417

Fosphenytoin

Approved, Investigational

Phase 1, Phase 2

93390-81-9

56339

Phenytoin

Approved, Vet_approved

Phase 1, Phase 2

57-41-0

1775

Interventional clinical trials:

(show top 50) (show all 91)

#	Name	Status	NCT ID	Phase	Drugs
1	N Acetyl Cysteine for Cystinosis Patients	Completed	NCT01614431	Phase 4	N acetyl cysteine;N acetyl cysteine
2	Risk-Adapted Allogeneic Stem Cell Transplantation For Mixed Donor Chimerism In Patients With Non-Malignant Diseases	Unknown status	NCT01019876	Phase 2, Phase 3	Fludarabine;Cyclophosphamide;Cyclophosphamide 40;Cyclophosphamide 30
3	Phase 3 Study of Cysteamine Bitartrate Delayed-release (RP103) Compared to Cystagon® in Patients With Cystinosis	Completed	NCT01000961	Phase 3	Cystagon® (Cysteamine Bitartrate);Cysteamine Bitartrate Delayed-release Capsules (RP103)
4	Long-Term Safety Follow-up Study of Cysteamine Bitartrate Delayed-release Capsules (RP103)	Completed	NCT01197378	Phase 3	Cysteamine Bitartrate Delayed-release Capsules (RP103)
5	Safety/Effectiveness Study of Cysteamine Bitartrate Delayed-release Capsules (RP103) in Cysteamine Treatment Naive Patients With Cystinosis	Completed	NCT01744782	Phase 3	RP103
6	Open-Label, Safety and Superior Effectiveness Study of Cysteamine Bitartrate Delayed-Release Capsules (RP103) in Cystinosis	Completed	NCT01733316	Phase 3	RP103;Cystagon®
7	TBI Dose De-escalation for Fanconi Anemia	Recruiting	NCT00352976	Phase 2, Phase 3	Cyclophosphamide;Fludarabine;Mycophenolate Mofetil;Sirolimus
8	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
9	Multicenter Transplant Study for Fanconi Anemia	Completed	NCT01082133	Phase 2	Chemotherapy
10	Hematopoietic Stem Cell Transplant for Fanconi Anemia	Completed	NCT01071239	Phase 2	Busulfan;Fludarabine;Cyclophosphamide;ATG
11	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
12	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.
13	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
14	Pilot Study of Safety, Tolerability, Pharmacokinetics/Pharmacodynamics of RP103 Compared to Cystagon® in Patients With Cystinosis	Completed	NCT00872729	Phase 1, Phase 2	Cystagon®;RP103
15	Study of Deferasirox in Iron Overload From Beta-thalassemia Unable to be Treated With Deferoxamine or Chronic Anemias	Completed	NCT00061763	Phase 2	Deferasirox
16	Medical Treatment for Diamond Blackfan Anemia	Completed	NCT00001749	Phase 2	Antithymocyte globulin;Cyclosporine
17	Phase II Pilot Study of Granulocyte Colony-Stimulating Factor for Inherited Bone Marrow Failure Syndromes	Completed	NCT00004787	Phase 2	filgrastim
18	Bortezomib Followed by High-Dose Melphalan and Bortezomib as Conditioning Regimen for Tandem Stem Cell Transplants	Completed	NCT00307086	Phase 2	Bortezomib;Melphalan
19	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
20	Cord Blood Stem Cell Transplantation Study (COBLT)	Completed	NCT00000603	Phase 2
21	Cysteamine Eye Drops to Treat Corneal Crystals in Cystinosis	Completed	NCT00001213	Phase 2	Cysteamine
22	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
23	Hematopoietic Stem Cell Transplantation in High Risk Patients With Fanconi Anemia	Recruiting	NCT00258427	Phase 2	busulfan;cyclophosphamide;fludarabine phosphate;methylprednisolone
24	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
25	Pilot Study of Metformin for Patients With Fanconi Anemia	Recruiting	NCT03398824	Phase 2	metformin HCl
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	Eltrombopag for People With Fanconi Anemia	Recruiting	NCT03206086	Phase 2	Eltrombopag
28	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
29	Quercetin Chemoprevention for Squamous Cell Carcinoma in Patients With Fanconi Anemia	Recruiting	NCT03476330	Phase 2	Quercetin (dietary supplement)
30	Lentiviral-mediated Gene Therapy of Fanconi Anemia Patients Subtype A	Recruiting	NCT03157804	Phase 1, Phase 2	Plerixafor
31	HSCT for Patients With Fanconi Anemia Using Risk-Adjusted Chemotherapy	Recruiting	NCT02143830	Phase 2	Busulfan;Cyclophosphamide;Fludarabine;rabbit ATG;G-CSF
32	Phase II Talazoparib in BRCA1 +BRCA2 Wild-Type &Triple-Neg /HER2-Negative Breast Cancer /SolidTumors	Recruiting	NCT02401347	Phase 2	Talazoparib Tosylate
33	A Study of LY2606368 (Prexasertib) in Patients With Solid Tumors With Replicative Stress or Homologous Repair Deficiency	Recruiting	NCT02873975	Phase 2	LY2606368
34	A Phase 1/2 Trial of SRA737 in Combination With Gemcitabine Plus Cisplatin or Gemcitabine Alone in Subjects With Advanced Cancer	Recruiting	NCT02797977	Phase 1, Phase 2	SRA737, gemcitabine, cisplatin;SRA737, gemcitabine
35	A Phase 1/2 Trial of SRA737 in Subjects With Advanced Cancer	Recruiting	NCT02797964	Phase 1, Phase 2	SRA737
36	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	Recruiting	NCT02286687	Phase 2	Talazoparib Tosylate
37	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
38	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)
39	Safety and Efficacy Trial of Danazol in Patients With Fanconi Anemia or Dyskeratosis Congenita	Terminated	NCT01001598	Phase 1, Phase 2	danazol
40	Stem Cell Transplantation for Fanconi Anemia	Terminated	NCT00167206	Phase 1, Phase 2	Cyclophosphamide, Fludarabine
41	Antibody Conditioning Regimen For Allogeneic Donor Stem Cell Transplantation Of Patients With Fanconi Anemia	Terminated	NCT00590460	Phase 1, Phase 2	Fludarabine
42	Stem Cell Transplant for Hematologic Diseases	Terminated	NCT00058825	Phase 1, Phase 2	Fludarabine;FK506 (Tacrolimus) or Cyclosporine
43	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,
44	Phase I Study of Amifostine in Patients With Bone Marrow Failure Related to Fanconi's Anemia	Unknown status	NCT00006127	Phase 1	amifostine
45	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
46	Oxandrolone for the Treatment of Bone Marrow Aplasia in Fanconi Anemia	Completed	NCT00243399	Phase 1	Oxandrolone
47	Cyclophosphamide in Treating Patients Who Are Undergoing a Donor Bone Marrow Transplant for Fanconi's Anemia	Completed	NCT00317876	Phase 1	cyclophosphamide;cyclosporine;methotrexate
48	Bone Marrow Cell Gene Transfer in Individuals With Fanconi Anemia	Completed	NCT00272857	Phase 1
49	Gene Therapy for the Treatment of Fanconi's Anemia Type C	Completed	NCT00001399	Phase 1	Transduced CD34+ Cells
50	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

Search NIH Clinical Center for Fanconi Syndrome

Cochrane evidence based reviews: fanconi syndrome

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Genetic Tests for Fanconi Syndrome

Genetic tests related to Fanconi Syndrome:

#	Genetic test	Affiliating Genes
1	Fanconi Syndrome ²⁹

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Anatomical Context for Fanconi Syndrome

MalaCards organs/tissues related to Fanconi Syndrome:

⁴¹

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

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Publications for Fanconi Syndrome

Articles related to Fanconi Syndrome:

(show top 50) (show all 514)

#	Title	Authors	Year
1	Acute Lymphoblastic Leukemia Presenting as Fanconi Syndrome. ( 29515412 )	Yoshida T....Suzuki H.	2018
2	Legionella Pneumonia Complicated with Acquired Fanconi Syndrome: A Case Report. ( 29877286 )	Koda R....Narita I.	2018
3	Glycine Amidinotransferase (GATM), Renal Fanconi Syndrome, and Kidney Failure. ( 29654216 )	Reichold M....Kleta R.	2018
4	Osteomalacia, renal Fanconi syndrome, and bone tumor. ( 29614898 )	Gou M....Ma Z.	2018
5	Hypophosphatemia in a Malnourished Child: When Renal Fanconi Syndrome Does Not Stand for Refeeding Syndrome. ( 29746006 )	Runde J....Sentongo T.	2018
6	Glucosuria without diabetes: key to the diagnosis of fragility fractures due to Fanconi syndrome. ( 29735496 )	Alacapa L.F....Orillaza N.J.S.	2018
7	Heavy-Chain Diseases and Myeloma-Associated Fanconi Syndrome: an Update. ( 29326807 )	Ria R....Vacca A.	2018
8	Sodium valproate-induced Fanconi syndrome in two severely disabled patients receiving carnitine supplementation. ( 29679355 )	Ono H.	2018
9	Renal Fanconi syndrome with meropenem-containing regimen in drug-resistant tuberculosis. ( 29567720 )	Tiberi S....Migliori G.B.	2018
10	Fanconi Syndrome in Irish Wolfhound Siblings. ( 29558216 )	Bommer N.X....Simpson J.W.	2018
11	Osteomalacia Due to Drug-Induced Fanconi Syndrome. ( 29575761 )	Cho J....Cheung P.P.	2018
12	Fanconi syndrome associated with SGLT2 inhibitor, canagliflozin. ( 29696765 )	Esprit D.H....Koratala A.	2018
13	Hyperinsulinaemic hypoglycaemia, renal Fanconi syndrome and liver disease due to a mutation in the HNF4A gene. ( 28458902 )	Clemente M....Yeste D.	2017
14	The renal Fanconi syndrome in cystinosis: pathogenic insights and therapeutic perspectives. ( 27990015 )	Cherqui S....Courtoy P.J.	2017
15	Long-term adefovir therapy may induce Fanconi syndrome: A report of four cases. ( 28672949 )	Pan F....Pan C.	2017
16	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 )	Karris M.Y.	2017
17	Endocytic receptor LRP2/megalin-of holoprosencephaly and renal Fanconi syndrome. ( 28497274 )	Willnow T.E....Christ A.	2017
18	Free light chain-associated Fanconi syndrome in an adolescent. ( 29205674 )	Mori A....Tanaka H.	2017
19	Fainting Fanconi syndrome clarified by proxy: a case report. ( 28693455 )	Walsh S.B....Bockenhauer D.	2017
20	Early Onset of Tenofovir-Related Fanconi Syndrome in a Child with Acute Hepatitis B: A Case Report and Systematic Review of Literature. ( 29270324 )	Pascale R....Verucchi G.	2017
21	Renal Fanconi syndrome in distal renal tubular acidosis. ( 28293727 )	Watanabe T.	2017
22	Aminoaciduria Caused by Fanconi Syndrome in a Heifer. ( 28109116 )	Cesbron N....HervAc J.	2017
23	Intraretinal Crystals in Nephopathic Cystinosis and Fanconi Syndrome. ( 28278342 )	Kozak I....Shoughy S.S.	2017
24	Nephrolithiasis and Osteomalacia associated with adefovir-induced Fanconi syndrome in a patient with hepatitis B. ( 28851305 )	Lin J....Zhang D.	2017
25	The Mechanism of Valproic Acid-Induced Fanconi Syndrome Involves Mitochondrial Dysfunction and Oxidative Stress in Rat Kidney. ( 28141910 )	Heidari R....Niknahad H.	2017
26	Pathologic femoral fracture due to tenofovir-induced Fanconi syndrome in patient with chronic hepatitis B: A case report. ( 29145330 )	Suh Y.S....Won S.H.	2017
27	Tenofovir alafenamide as a Rescue Therapy in a Cirrhotic HBV Patient with a Hystory of Fanconi Syndrome and Multidrug Resistance: A Case Report. ( 28870666 )	Grossi G....Lampertico P.	2017
28	Fanconi syndrome and neonatal diabetes: phenotypic heterogeneity in patients with GLUT2 defects. ( 29116606 )	Khandelwal P....Bagga A.	2017
29	Transient Fanconi syndrome in two preterm infants with hydronephrosis and urinary tract infection. ( 28509132 )	Tominaga T....Awazu M.	2017
30	Growth hormone therapy for a patient with idiopathic Fanconi syndrome and growth hormone deficiency. ( 28509131 )	Okamoto T....Takahashi T.	2017
31	Adefovir dipivoxil-induced Fanconi syndrome and its predictive factors: A study of 28 cases. ( 28123560 )	Lin Y....Pan C.	2017
32	Concomitant AIDS cholangiopathy and Fanconi syndrome as complications of HIV in a single patient. ( 29167218 )	Maweni R....Akunuri S.	2017
33	A case of Fanconi syndrome due to a deferasirox overdose and a trial of plasmapheresis. ( 28556939 )	Shah L....Zaritsky J.J.	2017
34	Renal Fanconi syndrome with meropenem/amoxicillin-clavulanate during treatment of extensively drug-resistant tuberculosis. ( 29284688 )	Abadie M.E....Chen R.Y.	2017
35	Fanconi syndrome in the adulthood. The role of early diagnosis and treatment. ( 29199190 )	Karatzas A....Karachalios T.	2017
36	Kidney failure caused by tubular intersticial intersticial nephropathy with Fanconi syndrome after treatment with zoledronic acid. ( 29122217 )	GutiAcrrez SA!nchez M.J....MartA-n Navarro J.A.	2017
37	Incidence of renal Fanconi syndrome in patients taking antiretroviral therapy including tenofovir disoproxil fumarate. ( 28764611 )	Medland N.A....Fairley C.K.	2017
38	Proximal Renal Tubular Acidosis (Fanconi syndrome) Induced by Apremilast: A Case Report. ( 28823583 )	Perrone D....Kar P.	2017
39	Adefovir-induced Fanconi syndrome associated with osteomalacia. ( 28859264 )	Park S....Lee E.Y.	2017
40	Ectopic germinal center and megalin defect in primary Sjogren syndrome with renal Fanconi syndrome. ( 28577559 )	Wang J....Chen L.	2017
41	Acquired Fanconi syndrome in two dogs following long-term consumption of pet jerky treats in Japan: case report. ( 28381666 )	Yabuki A....Yamato O.	2017
42	SjAPgren's syndrome complicated with Fanconi syndrome and Hashimoto's thyroiditis: Case report and literature review. ( 26966155 )	Shi M....Chen L.	2016
43	Fanconi Anemia and Fanconi Syndrome: Time to Correct the Misnomers. ( 27571122 )	Maher O.M....Moonat H.R.	2016
44	Successful treatment of proximal renal tubular acidosis and Fanconi syndrome with vitamin D replacement. ( 27424705 )	Ali S.A....Tariq M.	2016
45	Topiramate as a rare cause of reversible Fanconi syndrome and acute kidney injury: a case report and literature review. ( 26908388 )	Meseeha M.G....Kolade V.O.	2016
46	Bilineal Acute Leukemia Associated With Fanconi Syndrome: The First Case Report. ( 27617066 )	Miri-Aliabad G....Dorgalaleh A.	2016
47	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 )	Saeki T....Narita I.	2016
48	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 )	HartmannovA! H....Kmoch S.	2016
49	Misdiagnosis of Bone Metastasis Cancer After Using Adefovir Dipivoxi in a Hepatitis B Patient with Fanconi Syndrome. ( 27408428 )	Li X....Zhang J.J.	2016
50	Fanconi syndrome induced by tenofovir: A case report. ( 27424704 )	Lify B....El FilaliMarhoum K.	2016

Sources

Genes for Fanconi Syndrome

Genes related to Fanconi Syndrome (0 elite genes):

(show all 12)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence
1	HNF4A	Hepatocyte Nuclear Factor 4 Alpha	Protein Coding	30.73	DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Publications (show sections)
2	OCRL	OCRL, Inositol Polyphosphate-5-Phosphatase	Protein Coding	25.5	DISEASES inferred ¹⁵ GeneCards inferred via : Disorders (show sections)
3	CTNS	Cystinosin, Lysosomal Cystine Transporter	Protein Coding	25.11	DISEASES inferred ¹⁵ GeneCards inferred via : Publications (show sections)
4	CLCN5	Chloride Voltage-Gated Channel 5	Protein Coding	23.95	DISEASES inferred ¹⁵ GeneCards inferred via : Publications (show sections)
5	CUBN	Cubilin	Protein Coding	23.65	DISEASES inferred ¹⁵ GeneCards inferred via : Publications (show sections)
6	LRP2	LDL Receptor Related Protein 2	Protein Coding	23.53	DISEASES inferred ¹⁵ GeneCards inferred via : Publications (show sections)
7	SLC34A1	Solute Carrier Family 34 Member 1	Protein Coding	22.99	DISEASES inferred ¹⁵ GeneCards inferred via : Publications (show sections)
8	NDUFAF6	NADH:Ubiquinone Oxidoreductase Complex Assembly Factor 6	Protein Coding	22.35	DISEASES inferred ¹⁵ GeneCards inferred via : Publications (show sections)
9	EHHADH	Enoyl-CoA Hydratase And 3-Hydroxyacyl CoA Dehydrogenase	Protein Coding	21.89	DISEASES inferred ¹⁵ GeneCards inferred via : Publications (show sections)
10	ALAD	Aminolevulinate Dehydratase	Protein Coding	21.86	DISEASES inferred ¹⁵ GeneCards inferred via : Publications (show sections)
11	SLC2A2	Solute Carrier Family 2 Member 2	Protein Coding	21.85	DISEASES inferred ¹⁵ GeneCards inferred via : Publications (show sections)
12	MYO5B	Myosin VB	Protein Coding	21.45	DISEASES inferred ¹⁵ GeneCards inferred via : Publications (show sections)

Sources

Variations for Fanconi Syndrome

Sources

Expression for Fanconi Syndrome

Search GEO for disease gene expression data for Fanconi Syndrome.

Sources

Pathways for Fanconi Syndrome

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 ⁶⁶ Show member pathways Bicarbonate transporters ⁶⁶ Cation-coupled Chloride cotransporters ⁶⁶ Class II GLUTs ⁶⁶ Facilitative Na+-independent glucose transporters ⁶⁶ Inositol transporters ⁶⁶ Multifunctional anion exchangers ⁶⁶ Na+/Cl- dependent neurotransmitter transporters ⁶⁶ Na+-dependent glucose transporters ⁶⁶ Organic anion transport ⁶⁶ Organic anion transporters ⁶⁶ Organic cation transport ⁶⁶ Organic cation/anion/zwitterion transport ⁶⁶ Proton/oligopeptide cotransporters ⁶⁶ Proton-coupled monocarboxylate transport ⁶⁶ Rhesus glycoproteins mediate ammonium transport. ⁶⁶ SLC-mediated transmembrane transport ⁶⁶ Sodium/Calcium exchangers ⁶⁶ Sodium/Proton exchangers ⁶⁶ Sodium-coupled phosphate cotransporters ⁶⁶ Sodium-coupled sulphate, di- and tri-carboxylate transporters ⁶⁶ Transmembrane transport of small molecules ⁶⁶ Transport of inorganic cations/anions and amino acids/oligopeptides ⁶⁶ Type II Na+/Pi cotransporters ⁶⁶	12.68	CLCN5 CTNS MYO5B SLC2A2 SLC34A1
2	HIF1Alpha Pathway ⁶⁴	10.99	HNF4A SLC2A2
3	Hepatic ABC Transporters ⁶⁴ Show member pathways MODY (Maturity-Onset Diabetes of Young) ⁶⁴	10.89	CLCN5 HNF4A SLC2A2
4	FOXA2 and FOXA3 transcription factor networks ¹	10.6	HNF4A SLC2A2

Sources

GO Terms for Fanconi Syndrome

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

#	Name	GO ID	Score	Top Affiliating Genes
1	apical plasma membrane	GO:0016324	9.71	CUBN LRP2 SLC2A2 SLC34A1
2	lysosomal membrane	GO:0005765	9.67	CLCN5 CTNS CUBN LRP2
3	endosome	GO:0005768	9.65	CLCN5 CUBN LRP2 OCRL SLC34A1
4	apical part of cell	GO:0045177	9.5	CLCN5 CUBN LRP2
5	endocytic vesicle	GO:0030139	9.43	CUBN LRP2
6	clathrin-coated pit	GO:0005905	9.33	CUBN LRP2 OCRL
7	brush border membrane	GO:0031526	9.13	CUBN LRP2 SLC34A1
8	brush border	GO:0005903	8.92	CUBN LRP2 SLC2A2 SLC34A1

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

#	Name	GO ID	Score	Top Affiliating Genes
1	response to cadmium ion	GO:0046686	9.37	ALAD SLC34A1
2	response to lead ion	GO:0010288	9.32	ALAD SLC34A1
3	lipoprotein transport	GO:0042953	9.26	CUBN LRP2
4	vitamin D metabolic process	GO:0042359	9.16	CUBN LRP2
5	lipid metabolic process	GO:0006629	9.02	CUBN EHHADH HNF4A LRP2 OCRL
6	response to mercury ion	GO:0046689	8.96	ALAD SLC34A1

Sources

Sources for Fanconi Syndrome

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

⁶ ClinVar

⁷ CNVD

⁸ Cochrane Library

⁹ Cosmic

¹⁰ dbSNP

¹¹ DGIdb

¹² Disease Ontology

¹³ diseasecard

¹⁴ DiseaseEnhancer

¹⁵ DISEASES

¹⁶ DrugBank

¹⁷ ExPASy

¹⁸ FDA Approved Drugs

¹⁹ FMA

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ Genetics Home Reference

²⁶ GenomeRNAi

²⁷ GEO DataSets

²⁸ GO

²⁹ GTR

³⁰ HGMD

³¹ HMDB

³² HPO

³³ ICD10

³⁴ ICD10 via Orphanet

³⁵ ICD9CM

³⁶ IUPHAR

³⁷ KEGG

³⁸ LifeMap

³⁹ LncRNADisease

⁴⁰ LOVD

⁴¹ MalaCards

⁴² MedGen

⁴³ MedlinePlus

⁴⁴ MeSH

⁴⁵ MESH via Orphanet

⁴⁶ MGI

⁴⁷ miR2Disease

⁴⁸ NCBI Bookshelf

⁴⁹ NCI

⁵⁰ NCIt

⁵¹ NDF-RT

⁵² NIH Clinical Center

⁵³ NIH Rare Diseases

⁵⁴ NINDS

⁵⁵ Novoseek

⁵⁶ Novus Biologicals

⁵⁷ OMIM

⁵⁸ OMIM via Orphanet

⁵⁹ Orphanet

⁶⁰ PathCards

⁶¹ PharmGKB

⁶² PubMed

⁶³ PubMed Health

⁶⁴ QIAGEN

⁶⁵ R&D Systems

⁶⁶ Reactome

⁶⁷ Sino Biological

⁶⁸ SNOMED-CT

⁶⁹ SNOMED-CT via HPO

⁷⁰ SNOMED-CT via Orphanet

⁷¹ TGDB

⁷² Tocris

⁷³ UMLS

⁷⁴ UMLS via Orphanet

⁷⁵ UniProtKB/Swiss-Prot

⁷⁶ Wikipedia