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

MCID: FNC004 MIFTS: 50	Fanconi Syndrome Categories: Nephrological diseases, Rare 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 40488004 44673006

UMLS ⁷³ C0015624 C0341703 C0015625 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 Antiviral Agents have been mentioned in the context of this disorder. Affiliated tissues include kidney, bone and liver, and related phenotypes are growth/size/body region and homeostasis/metabolism

Wikipedia : ⁷⁶ Fanconi syndrome or Fanconi''s syndrome (English: /f�?ːn�?ko�?ni/, /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	32.6	CLCN5 CUBN LRP2 OCRL
3	cystinosis	32.2	CTNS CUBN LRP2
4	lowe oculocerebrorenal syndrome	31.4	CLCN5 LRP2 OCRL
5	hypophosphatemic rickets, x-linked recessive	29.9	CLCN5 SLC34A1
6	hypophosphatemia	29.8	CLCN5 SLC34A1
7	nephrolithiasis	29.8	CLCN5 LRP2 SLC34A1
8	nephrolithiasis, calcium oxalate	29.6	CLCN5 SLC34A1
9	aminoaciduria	29.5	CLCN5 EHHADH HNF4A OCRL SLC34A1
10	nephrocalcinosis	29.3	CLCN5 LRP2 OCRL SLC34A1
11	acquired monoclonal ig light chain-associated fanconi syndrome	12.1
12	wissler's syndrome	11.5
13	fanconi anemia, complementation group a	11.5
14	fanconi renotubular syndrome 1	11.3
15	fanconi-bickel syndrome	11.3
16	cystinosis, nephropathic	11.3
17	fanconi renotubular syndrome 4 with maturity-onset diabetes of the young	11.1
18	arthrogryposis, renal dysfunction, and cholestasis 1	10.9
19	dent disease 2	10.9
20	adult-onset still's disease	10.9
21	osteomalacia	10.4
22	hepatitis	10.3
23	hepatitis b	10.2
24	myeloma, multiple	10.2
25	renal tubular acidosis	10.2
26	rickets	10.2
27	diabetes insipidus	10.2
28	renal tubular transport disease	10.1	CLCN5 OCRL
29	fanconi-like syndrome	10.1	CUBN LRP2
30	diabetes insipidus, nephrogenic, autosomal	10.1
31	interstitial nephritis	10.1
32	donnai-barrow syndrome	10.1	CUBN LRP2
33	x-linked recessive disease	10.0	CLCN5 OCRL
34	renal tubular acidosis, proximal	10.0
35	biliary cirrhosis, primary, 1	10.0
36	primary biliary cirrhosis	10.0
37	uveitis	10.0
38	hyperparathyroidism	10.0
39	kidney disease	10.0
40	primary biliary cholangitis	10.0
41	3-methylglutaconic aciduria, type i	9.9	CUBN EHHADH
42	cystinuria	9.9
43	kearns-sayre syndrome	9.9
44	leukemia	9.9
45	nephrotic syndrome	9.9
46	histiocytosis	9.9
47	myopathy	9.9
48	pneumonia	9.9
49	monoclonal gammopathy of uncertain significance	9.9
50	lysinuric protein intolerance	9.8

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	CLCN5 CTNS CUBN LRP2 OCRL SLC34A1

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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 131)

Name

Status

Phase

Clinical Trials

Cas Number

PubChem Id

Acetylcysteine

Approved, Investigational

Phase 4

616-91-1

12035

Antiviral Agents

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

Anti-Infective Agents

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

Protective Agents

Phase 4,Phase 2,Phase 1,Not Applicable

Free Radical Scavengers

Phase 4

Antioxidants

Phase 4,Phase 2,Phase 1

Expectorants

Phase 4

Respiratory System Agents

Phase 4

Antidotes

Phase 4

cysteine

Phase 4

N-monoacetylcystine

Phase 4

Vidarabine

Approved, Investigational

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

24356-66-9

32326 21704

alemtuzumab

Approved, Investigational

Phase 2, Phase 3,Phase 1

216503-57-0

Cyclophosphamide

Approved, Investigational

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

6055-19-2, 50-18-0

2907

Busulfan

Approved, Investigational

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

55-98-1

2478

Fludarabine

Approved

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

75607-67-9, 21679-14-1

30751

Cysteamine

Approved, Investigational

Phase 3,Phase 1,Phase 2,Not Applicable

60-23-1

6058

Mycophenolic acid

Approved

Phase 2, Phase 3,Phase 1,Not Applicable

24280-93-1

446541

Miconazole

Approved, Investigational, Vet_approved

Phase 2, Phase 3,Phase 1,Not Applicable

22916-47-8

4189

Everolimus

Approved

Phase 2, Phase 3

159351-69-6

6442177

Sirolimus

Approved, Investigational

Phase 2, Phase 3

53123-88-9

46835353 6436030 5284616

Immunologic Factors

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

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

Immunosuppressive Agents

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

Antitubercular 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

Anti-Bacterial Agents

Phase 2, Phase 3,Phase 1,Not Applicable

Lenograstim

Approved, Investigational

Phase 2,Phase 1,Not Applicable

135968-09-1

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

Methylprednisolone hemisuccinate

Approved

Phase 2,Phase 1,Not Applicable

2921-57-5

Melphalan

Approved

Phase 2,Phase 1,Not Applicable

148-82-3

4053 460612

Prednisolone phosphate

Approved, Vet_approved

Phase 2,Phase 1,Not Applicable

302-25-0

Iron

Approved

Phase 2

7439-89-6

23925

Deferoxamine

Approved, Investigational

Phase 2

70-51-9

2973

Deferasirox

Approved, Investigational

Phase 2

201530-41-8

5493381

Bortezomib

Approved, Investigational

Phase 2

179324-69-7

387447 93860

Thiotepa

Approved, Investigational

Phase 2,Phase 1

52-24-4

5453

Tacrolimus

Approved, Investigational

Phase 2,Phase 1

104987-11-3

445643 439492

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

Talazoparib

Approved, Investigational

Phase 2

1207456-01-6

Gemcitabine

Approved

Phase 1, Phase 2

95058-81-4

60750

Interventional clinical trials:

(show top 50) (show all 100)

#	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	Safety/Effectiveness Study of Cysteamine Bitartrate Delayed-release Capsules (RP103) in Cysteamine Treatment Naive Patients With Cystinosis	Completed	NCT01744782	Phase 3	RP103
5	Open-Label, Safety and Superior Effectiveness Study of Cysteamine Bitartrate Delayed-Release Capsules (RP103) in Cystinosis	Completed	NCT01733316	Phase 3	RP103;Cystagon®
6	Long-Term Safety Follow-up Study of Cysteamine Bitartrate Delayed-release Capsules (RP103)	Completed	NCT01197378	Phase 3	Cysteamine Bitartrate Delayed-release Capsules
7	TBI Dose De-escalation for Fanconi Anemia	Recruiting	NCT00352976	Phase 2, Phase 3	Cyclophosphamide;Fludarabine;Mycophenolate Mofetil;Sirolimus
8	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	Unknown status	NCT02931071	Phase 2	filgrastim;plerixafor
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	Busulfan;Fludarabine;Cyclophosphamide;ATG
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 Remission	Completed	NCT00305708	Phase 1, Phase 2	busulfan;fludarabine phosphate
21	Cord Blood Stem Cell Transplantation Study (COBLT)	Completed	NCT00000603	Phase 2
22	CD34+Selection for Partially Matched Family or Matched Unrelated Adult Donor Transplant	Completed	NCT01049854	Phase 2	Full Intensity with TBI;Full Intensity;Reduced Intensity;Reduced Intensity (Fanconi)
23	Cysteamine Eye Drops to Treat Corneal Crystals in Cystinosis	Completed	NCT00001213	Phase 2	Cysteamine
24	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
25	Hematopoietic Stem Cell Transplantation in High Risk Patients With Fanconi Anemia	Recruiting	NCT00258427	Phase 2	busulfan;cyclophosphamide;fludarabine phosphate;methylprednisolone
26	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
27	Pilot Study of Metformin for Patients With Fanconi Anemia	Recruiting	NCT03398824	Phase 2	metformin HCl
28	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
29	Eltrombopag for People With Fanconi Anemia	Recruiting	NCT03206086	Phase 2	Eltrombopag
30	Quercetin Chemoprevention for Squamous Cell Carcinoma in Patients With Fanconi Anemia	Recruiting	NCT03476330	Phase 2	Quercetin (dietary supplement)
31	T Cell Receptor α/β TCD HCT in Patients With Fanconi Anemia	Recruiting	NCT03579875	Phase 2	Total Body Irradiation (TBI) (Plan 1);Cyclophosphamide (CY) (Plan 1);Fludarabine (FLU);Methylprednisolone (MP);G-CSF;Cyclophosphamide (CY) (Plan 2)
32	Lentiviral-mediated Gene Therapy of Fanconi Anemia Patients Subtype A	Recruiting	NCT03157804	Phase 1, Phase 2	Plerixafor
33	HSCT for Patients With Fanconi Anemia Using Risk-Adjusted Chemotherapy	Recruiting	NCT02143830	Phase 2	Busulfan;Cyclophosphamide;Fludarabine;rabbit ATG;G-CSF
34	A Study of the Effect of Blood Stem Cell Transplant After Chemotherapy Alone in Patients With Fanconi Anemia	Recruiting	NCT03600909	Phase 2	Busulfan;Fludarabine;Cyclophosphamide;Anti-Thymocyte Globulin (Rabbit);G-CSF
35	Phase II Talazoparib in BRCA1 +BRCA2 Wild-Type &Triple-Neg /HER2-Negative Breast Cancer /SolidTumors	Recruiting	NCT02401347	Phase 2	Talazoparib Tosylate
36	A Study of LY2606368 (Prexasertib) in Patients With Solid Tumors With Replicative Stress or Homologous Repair Deficiency	Recruiting	NCT02873975	Phase 2	LY2606368
37	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
38	A Phase 1/2 Trial of SRA737 in Subjects With Advanced Cancer	Recruiting	NCT02797964	Phase 1, Phase 2	SRA737
39	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 BRCA1/2 (Not Breast or Ovarian Cancer)	Recruiting	NCT02286687	Phase 2	Talazoparib Tosylate
40	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
41	Safety Study of Gene Modified Donor T-cells Following TCR Alpha Beta Depleted Stem Cell Transplant	Active, not recruiting	NCT02065869	Phase 1, Phase 2	rimiducid
42	Long Term Follow-up Study for Patients Enrolled on the BP-004 Clinical Study	Enrolling by invitation	NCT03733249	Phase 1, Phase 2	Rimiducid
43	Safety and Efficacy Trial of Danazol in Patients With Fanconi Anemia or Dyskeratosis Congenita	Terminated	NCT01001598	Phase 1, Phase 2	danazol
44	Stem Cell Transplantation for Fanconi Anemia	Terminated	NCT00167206	Phase 1, Phase 2	Cyclophosphamide, Fludarabine
45	Antibody Conditioning Regimen For Allogeneic Donor Stem Cell Transplantation Of Patients With Fanconi Anemia	Terminated	NCT00590460	Phase 1, Phase 2	Fludarabine
46	Stem Cell Transplant for Hematologic Diseases	Terminated	NCT00058825	Phase 1, Phase 2	Fludarabine;FK506 (Tacrolimus) or Cyclosporine
47	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,
48	Phase I Study of Amifostine in Patients With Bone Marrow Failure Related to Fanconi's Anemia	Unknown status	NCT00006127	Phase 1	amifostine
49	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
50	Oxandrolone for the Treatment of Bone Marrow Aplasia in Fanconi Anemia	Completed	NCT00243399	Phase 1	Oxandrolone

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

Kidney, Bone, Liver, Thyroid, Myeloid, T Cells, B Cells

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Publications for Fanconi Syndrome

Articles related to Fanconi Syndrome:

(show top 50) (show all 534)

#	Title	Authors	Year
1	Fanconi Syndrome. ( 30454741 )	Foreman JW	2019
2	Acute Lymphoblastic Leukemia Presenting as Fanconi Syndrome. ( 29515412 )	Yoshida T....Suzuki H.	2018
3	Legionella Pneumonia Complicated with Acquired Fanconi Syndrome: A Case Report. ( 29877286 )	Koda R....Narita I.	2018
4	Glycine Amidinotransferase (GATM), Renal Fanconi Syndrome, and Kidney Failure. ( 29654216 )	Reichold M....Kleta R.	2018
5	Osteomalacia, renal Fanconi syndrome, and bone tumor. ( 29614898 )	Gou M....Ma Z.	2018
6	Hypophosphatemia in a Malnourished Child: When Renal Fanconi Syndrome Does Not Stand for Refeeding Syndrome. ( 29746006 )	Runde J....Sentongo T.	2018
7	Glucosuria without diabetes: key to the diagnosis of fragility fractures due to Fanconi syndrome. ( 29735496 )	Alacapa L.F....Orillaza N.J.S.	2018
8	Heavy-Chain Diseases and Myeloma-Associated Fanconi Syndrome: an Update. ( 29326807 )	Ria R....Vacca A.	2018
9	Sodium valproate-induced Fanconi syndrome in two severely disabled patients receiving carnitine supplementation. ( 29679355 )	Ono H.	2018
10	Renal Fanconi syndrome with meropenem-containing regimen in drug-resistant tuberculosis. ( 29567720 )		2018
11	Fanconi Syndrome in Irish Wolfhound Siblings. ( 29558216 )		2018
12	Osteomalacia Due to Drug-Induced Fanconi Syndrome. ( 29575761 )		2018
13	Fanconi syndrome associated with SGLT2 inhibitor, canagliflozin. ( 29696765 )		2018
14	HNF4A-related Fanconi syndrome in a Chinese patient: a case report and review of the literature. ( 30005691 )	Liu J...Xu H	2018
15	Severe hypophosphatemia induced by denosumab in a patient with osteomalacia and tenofovir disoproxil fumarate-related acquired Fanconi syndrome. ( 30171299 )	Chung TL...Chen CL	2018
16	Acquired Fanconi syndrome secondary to light chain deposition disease associated with monoclonal gammopathy of renal significance: A case report. ( 30200082 )	Tu H...Hu Y	2018
17	Fanconi syndrome due to tenofovir disoproxil fumarate reversed by switching to tenofovir alafenamide fumarate in an HIV-infected patient. ( 30224952 )	Mothobi NZ...Marriott DJ	2018
18	Two cases of reversible Fanconi syndrome induced by lenalidomide. ( 30277123 )	Wesner N...Baron M	2018
19	A Case of Hypophosphatemic Osteomalacia Associated with Adefovir-induced Fanconi Syndrome Initially Diagnosed as Diabetic Kidney Disease and Vitamin D Deficiency. ( 30333420 )	Koda R...Narita I	2018
20	TINU-associated Fanconi syndrome: a case report and review of literature. ( 30340545 )	V? B...Yildiz H	2018
21	Bortezomib-based chemotherapy can improve renal and tubular functions in patients with light chain-associated Fanconi syndrome. ( 30511139 )	Wu X...Li J	2018
22	Anesthetic challenges in a child with Lowe's and Fanconi syndrome. ( 30532329 )	Chaudhari SD...Kaur M	2018
23	Hyperinsulinaemic hypoglycaemia, renal Fanconi syndrome and liver disease due to a mutation in the HNF4A gene. ( 28458902 )	Clemente M....Yeste D.	2017
24	The renal Fanconi syndrome in cystinosis: pathogenic insights and therapeutic perspectives. ( 27990015 )	Cherqui S....Courtoy P.J.	2017
25	Long-term adefovir therapy may induce Fanconi syndrome: A report of four cases. ( 28672949 )	Pan F....Pan C.	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 )	Karris M.Y.	2017
27	Endocytic receptor LRP2/megalin-of holoprosencephaly and renal Fanconi syndrome. ( 28497274 )	Willnow T.E....Christ A.	2017
28	Free light chain-associated Fanconi syndrome in an adolescent. ( 29205674 )	Mori A....Tanaka H.	2017
29	Fainting Fanconi syndrome clarified by proxy: a case report. ( 28693455 )	Walsh S.B....Bockenhauer D.	2017
30	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
31	Renal Fanconi syndrome in distal renal tubular acidosis. ( 28293727 )	Watanabe T.	2017
32	Aminoaciduria Caused by Fanconi Syndrome in a Heifer. ( 28109116 )	Cesbron N....HervAc J.	2017
33	Intraretinal Crystals in Nephopathic Cystinosis and Fanconi Syndrome. ( 28278342 )	Kozak I....Shoughy S.S.	2017
34	Nephrolithiasis and Osteomalacia associated with adefovir-induced Fanconi syndrome in a patient with hepatitis B. ( 28851305 )	Lin J....Zhang D.	2017
35	The Mechanism of Valproic Acid-Induced Fanconi Syndrome Involves Mitochondrial Dysfunction and Oxidative Stress in Rat Kidney. ( 28141910 )	Heidari R....Niknahad H.	2017
36	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
37	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
38	Fanconi syndrome and neonatal diabetes: phenotypic heterogeneity in patients with GLUT2 defects. ( 29116606 )	Khandelwal P....Bagga A.	2017
39	Transient Fanconi syndrome in two preterm infants with hydronephrosis and urinary tract infection. ( 28509132 )	Tominaga T....Awazu M.	2017
40	Growth hormone therapy for a patient with idiopathic Fanconi syndrome and growth hormone deficiency. ( 28509131 )	Okamoto T....Takahashi T.	2017
41	Adefovir dipivoxil-induced Fanconi syndrome and its predictive factors: A study of 28 cases. ( 28123560 )	Lin Y....Pan C.	2017
42	Concomitant AIDS cholangiopathy and Fanconi syndrome as complications of HIV in a single patient. ( 29167218 )		2017
43	A case of Fanconi syndrome due to a deferasirox overdose and a trial of plasmapheresis. ( 28556939 )		2017
44	Renal Fanconi syndrome with meropenem/amoxicillin-clavulanate during treatment of extensively drug-resistant tuberculosis. ( 29284688 )		2017
45	Fanconi syndrome in the adulthood. The role of early diagnosis and treatment. ( 29199190 )		2017
46	Kidney failure caused by tubular intersticial intersticial nephropathy with Fanconi syndrome after treatment with zoledronic acid. ( 29122217 )		2017
47	Incidence of renal Fanconi syndrome in patients taking antiretroviral therapy including tenofovir disoproxil fumarate. ( 28764611 )		2017
48	Proximal Renal Tubular Acidosis (Fanconi syndrome) Induced by Apremilast: A Case Report. ( 28823583 )		2017
49	Adefovir-induced Fanconi syndrome associated with osteomalacia. ( 28859264 )		2017
50	Ectopic germinal center and megalin defect in primary Sjogren syndrome with renal Fanconi syndrome. ( 28577559 )		2017

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	30.7	DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Publications (show sections)
2	OCRL	OCRL, Inositol Polyphosphate-5-Phosphatase	Protein Coding	25.39	DISEASES inferred ¹⁵ GeneCards inferred via : Disorders (show sections)
3	CTNS	Cystinosin, Lysosomal Cystine Transporter	Protein Coding	25.04	DISEASES inferred ¹⁵ GeneCards inferred via : Publications (show sections)
4	CLCN5	Chloride Voltage-Gated Channel 5	Protein Coding	23.82	DISEASES inferred ¹⁵ GeneCards inferred via : Publications (show sections)
5	CUBN	Cubilin	Protein Coding	23.54	DISEASES inferred ¹⁵ GeneCards inferred via : Publications (show sections)
6	LRP2	LDL Receptor Related Protein 2	Protein Coding	23.44	DISEASES inferred ¹⁵ GeneCards inferred via : Publications (show sections)
7	SLC34A1	Solute Carrier Family 34 Member 1	Protein Coding	23.06	DISEASES inferred ¹⁵ GeneCards inferred via : Publications (show sections)
8	NDUFAF6	NADH:Ubiquinone Oxidoreductase Complex Assembly Factor 6	Protein Coding	22.27	DISEASES inferred ¹⁵ GeneCards inferred via : Publications (show sections)
9	ALAD	Aminolevulinate Dehydratase	Protein Coding	21.76	DISEASES inferred ¹⁵ GeneCards inferred via : Publications (show sections)
10	SLC2A2	Solute Carrier Family 2 Member 2	Protein Coding	21.74	DISEASES inferred ¹⁵ GeneCards inferred via : Publications (show sections)
11	EHHADH	Enoyl-CoA Hydratase And 3-Hydroxyacyl CoA Dehydrogenase	Protein Coding	21.74	DISEASES inferred ¹⁵ GeneCards inferred via : Publications (show sections)
12	MYO5B	Myosin VB	Protein Coding	21.32	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	endosome	GO:0005768	9.65	CLCN5 CUBN LRP2 OCRL SLC34A1
3	early endosome	GO:0005769	9.63	CLCN5 CTNS OCRL
4	lysosomal membrane	GO:0005765	9.62	CLCN5 CTNS CUBN LRP2
5	apical part of cell	GO:0045177	9.54	CLCN5 CUBN LRP2
6	endocytic vesicle	GO:0030139	9.48	CUBN LRP2
7	Golgi-associated vesicle	GO:0005798	9.43	CUBN OCRL
8	clathrin-coated pit	GO:0005905	9.33	CUBN LRP2 OCRL
9	brush border membrane	GO:0031526	9.13	CUBN LRP2 SLC34A1
10	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	9.4	ALAD SLC34A1
2	lipoprotein transport	GO:0042953	9.37	CUBN LRP2
3	response to nutrient	GO:0007584	9.33	ALAD CUBN SLC34A1
4	response to lead ion	GO:0010288	9.32	ALAD SLC34A1
5	vitamin D metabolic process	GO:0042359	9.26	CUBN LRP2
6	lipid metabolic process	GO:0006629	9.02	CUBN EHHADH HNF4A LRP2 OCRL
7	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