MCID: FNC004
MIFTS: 63

Fanconi Syndrome

Categories: Metabolic diseases, Nephrological diseases, Rare diseases
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Aliases & Classifications for Fanconi Syndrome

MalaCards integrated aliases for Fanconi Syndrome:

Name: Fanconi Syndrome 11 19 75 28 43 14 71 33
Infantile Nephropathic Cystinosis 11 58 28 5
Primary Fanconi Renotubular Syndrome 19 58
De Toni-Debre-Fanconi Syndrome 71 33
Fanconi Renotubular Syndrome 19 33
Congenital Fanconi Syndrome 11 33
De Toni-Fanconi Syndrome 11 5
Fanconi-De Toni Syndrome 11 33
Lignac-Fanconi Syndrome 11 33
Adult Fanconi Syndrome 11 71
Cystinosis, Infantile Nephropathic 71
Primary Fanconi Renal Syndrome 58
Detoni-Debre-Fanconi Syndrome 58
Fanconi-De-Toni Syndrome 11
Primary Fanconi Syndrome 19
Fanconi-Bickel Syndrome 71
Detoni Fanconi Syndrome 11
Renal Fanconi Syndrome 33
Adult Fanconi Anemia 11
Lowe-Bickel Syndrome 33
Fanconi Anemia 71

Characteristics:


Inheritance:

Infantile Nephropathic Cystinosis: Autosomal recessive 58
Primary Fanconi Renotubular Syndrome: Autosomal dominant,Autosomal recessive 58

Prevelance:

Infantile Nephropathic Cystinosis: 1-9/1000000 (Europe) 58

Age Of Onset:

Infantile Nephropathic Cystinosis: Infancy 58
Primary Fanconi Renotubular Syndrome: Childhood,Infancy 58

Classifications:

Orphanet: 58  
Rare renal diseases
Inborn errors of metabolism


Summaries for Fanconi Syndrome

Orphanet 58 Primary fanconi renotubular syndrome: A rare generalized, genetic disorder of proximal tubular transport characterized by excessive urine output with loss of low molecular weight solutes (amino acids, glucose, low-molecular weight proteins, organic acids, carnitine, calcium, phosphate, potassium, bicarbonate) and water, and which can be life threatening.

Infantile nephropathic cystinosis: A subtype of cystinosis characterized by an accumulation of cystine in the organs and tissues, particularly in the kidneys and eyes, and that clinically manifests from infancy with renal Fanconi syndrome, photophobia, hypothyroidism, impaired growth and rickets, in addition to various other systemic effects. Progressive extra-renal manifestations include hypothyroidism, hypogonadism and male infertility, insulin-dependent diabetes, hepatosplenomegaly with portal hypertension, muscle involvement with distal muscle weakness and atrophy, pharyngeal and oral dysfunction, swallowing difficulties, cerebral involvement with hypotonia, speech and walking difficulties, and cerebellar syndrome.

MalaCards based summary: Fanconi Syndrome, also known as infantile nephropathic cystinosis, is related to fanconi renotubular syndrome 1 and dent disease 1. An important gene associated with Fanconi Syndrome is CTNS (Cystinosin, Lysosomal Cystine Transporter), and among its related pathways/superpathways are Transport of inorganic cations/anions and amino acids/oligopeptides and Disorders of transmembrane transporters. The drugs Cyclophosphamide and Busulfan have been mentioned in the context of this disorder. Affiliated tissues include kidney, bone marrow and bone, and related phenotypes are failure to thrive and constipation

GARD: 19 Fanconi syndrome (FS) affects the way the kidneys work. In FS, the kidneys do not properly absorb electrolytes and other substances into the body. Symptoms can begin at any age. They may include slow growth, fragile bones, frequent urination, and dehydration. Other symptoms include weakness, tremors, and fatigue. FS can occur as an isolated condition or as part of other diseases. Isolated FS may be caused by genetic variants in one of several different genes, and can be inherited in families. FS can also occur as part of another condition or as a side effect of certain medications and other environmental exposures. Diagnosis is based on the symptoms, clinical exam, and urine testing.

Disease Ontology: 11 A renal tubular transport disease of the proximal renal tubes characterized by glucosuria, phosphaturia, generalized aminoaciduria and HCO3 wasting.

Wikipedia: 75 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

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

(show top 50) (show all 436)
# Related Disease Score Top Affiliating Genes
1 fanconi renotubular syndrome 1 33.0 SLC34A1 GATM
2 dent disease 1 32.6 SLC34A3 SLC34A1 OCRL LRP2 CUBN CTNS
3 lowe oculocerebrorenal syndrome 32.5 OCRL LRP2 CUBN CLCN5
4 cystinosis 32.3 OCRL LRP2 CUBN CTNS-AS1 CTNS CLCN5
5 cystinosis, nephropathic 32.2 CTNS-AS1 CTNS
6 fanconi renotubular syndrome 2 32.0 SLC34A3 SLC34A1
7 osteomalacia 31.6 SLC34A3 SLC34A1 PTH
8 renal tubular acidosis 31.5 PTH OCRL CLCN5
9 hypophosphatemia 31.5 SLC34A3 SLC34A1 PTH OCRL CLCN5 ALB
10 aminoaciduria 31.3 SLC34A1 OCRL NDUFAF6 HNF4A GATM EHHADH
11 rickets 31.2 SLC34A3 SLC34A1 PTH OCRL CLCN5 ALB
12 acute kidney failure 31.2 UMOD SLC22A12 ALB
13 kidney disease 31.1 UMOD PTH LRP2 HNF4A CUBN CLCN5
14 cystinosis, adult nonnephropathic 31.1 CTNS-AS1 CTNS
15 nephrolithiasis, calcium oxalate 30.8 UMOD SLC34A1 CLCN5
16 nephrotic syndrome 30.8 LRP2 CUBN CTNS CLCN5 ALB
17 nephrocalcinosis 30.7 SLC34A3 SLC34A1 OCRL CLCN5 ALB
18 acute kidney tubular necrosis 30.7 UMOD LRP2 ALB
19 cystinuria 30.7 UMOD SLC34A1 CLCN5
20 hypophosphatemic rickets, x-linked recessive 30.7 SLC34A3 SLC34A1 OCRL CUBN CLCN5
21 maturity-onset diabetes of the young 30.7 UMOD SLC2A2 HNF4A ALB
22 nephrolithiasis 30.6 UMOD SLC34A3 SLC34A1 SLC22A12 PTH LRP2
23 primary hyperparathyroidism 30.4 PTH LRP2 ALB
24 bartter disease 30.4 UMOD PTH CLCN5 AVP
25 fanconi-like syndrome 30.3 LRP2 CUBN
26 ureterolithiasis 30.3 PTH ALB
27 kidney papillary necrosis 30.3 UMOD ALB
28 cystinosis, late-onset juvenile or adolescent nephropathic type 30.2 CTNS-AS1 CTNS
29 hypercalciuria, absorptive, 2 30.2 SLC34A3 CLCN5
30 donnai-barrow syndrome 30.2 OCRL LRP2 CUBN CLCN5
31 inappropriate adh syndrome 30.0 AVP ALB
32 graves disease 1 30.0 PTH ALB
33 fanconi-bickel syndrome 11.4
34 fanconi renotubular syndrome 5 11.3
35 wissler-fanconi syndrome 11.3
36 iminoglycinuria 11.2
37 acquired monoclonal ig light chain-associated fanconi syndrome 11.2
38 fanconi anemia, complementation group a 11.2
39 adult-onset still's disease 11.2
40 fanconi renotubular syndrome 4 with maturity-onset diabetes of the young 11.1
41 dent disease 2 11.1
42 renal tubular acidosis, proximal 11.1
43 atypical fanconi syndrome-neonatal hyperinsulinism syndrome 11.0
44 fanconi renotubular syndrome 3 11.0
45 fanconi renotubular syndrome 4 11.0
46 pepck 1 deficiency 11.0
47 primary tubular proximal acidosis 11.0
48 metabolic acidosis 10.6
49 hypokalemia 10.6
50 muscular atrophy 10.5

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



Diseases related to Fanconi Syndrome

Symptoms & Phenotypes for Fanconi Syndrome

Human phenotypes related to Fanconi Syndrome:

58 30 (show all 49)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 failure to thrive 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0001508
2 constipation 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0002019
3 photophobia 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000613
4 dehydration 58 30 Occasional (7.5%) Very frequent (99-80%)
Occasional (29-5%)
HP:0001944
5 polydipsia 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0001959
6 vomiting 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0002013
7 hypophosphatemia 58 30 Hallmark (90%) Very frequent (99-80%)
Frequent (79-30%)
HP:0002148
8 hypokalemia 58 30 Frequent (33%) Very frequent (99-80%)
Frequent (79-30%)
HP:0002900
9 aminoaciduria 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0003355
10 rickets 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0002748
11 growth delay 58 30 Hallmark (90%) Very frequent (99-80%)
Very frequent (99-80%)
HP:0001510
12 proximal renal tubular acidosis 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0002049
13 generalized aminoaciduria 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0002909
14 renal fanconi syndrome 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0001994
15 hyperphosphaturia 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0003109
16 glycosuria 58 30 Hallmark (90%) Very frequent (99-80%)
Very frequent (99-80%)
HP:0003076
17 corneal crystals 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000531
18 low-molecular-weight proteinuria 58 30 Hallmark (90%) Very frequent (99-80%)
Very frequent (99-80%)
HP:0003126
19 hyperchloremic metabolic acidosis 58 30 Hallmark (90%) Very frequent (99-80%)
Very frequent (99-80%)
HP:0004918
20 abnormality of vitamin d metabolism 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0100511
21 renal phosphate wasting 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000117
22 hyperuricosuria 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0003149
23 bicarbonate-wasting renal tubular acidosis 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0004910
24 bicarbonaturia 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0003646
25 abnormal tubulointerstitial morphology 30 Hallmark (90%) HP:0001969
26 muscle weakness 58 30 Frequent (33%) Frequent (79-30%)
HP:0001324
27 osteomalacia 58 30 Frequent (33%) Frequent (79-30%)
HP:0002749
28 weight loss 58 30 Frequent (33%) Frequent (79-30%)
HP:0001824
29 bone pain 58 30 Frequent (33%) Frequent (79-30%)
HP:0002653
30 increased susceptibility to fractures 58 30 Frequent (33%) Frequent (79-30%)
HP:0002659
31 pigmentary retinopathy 58 30 Frequent (33%) Frequent (79-30%)
HP:0000580
32 abnormality of thyroid physiology 58 30 Frequent (33%) Frequent (79-30%)
HP:0002926
33 hypophosphatemic rickets 58 30 Frequent (33%) Frequent (79-30%)
HP:0004912
34 increased urinary potassium 58 30 Frequent (33%) Frequent (79-30%)
HP:0003081
35 decreased plasma carnitine 58 30 Frequent (33%) Frequent (79-30%)
HP:0003234
36 renal sodium wasting 58 30 Frequent (33%) Frequent (79-30%)
HP:0012606
37 hypouricemia 58 30 Frequent (33%) Frequent (79-30%)
HP:0003537
38 cognitive impairment 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0100543
39 hypercalciuria 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002150
40 abnormal cerebral white matter morphology 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002500
41 stage 5 chronic kidney disease 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0003774
42 hypoglycemia 58 30 Very rare (1%) Very rare (<4-1%)
HP:0001943
43 pulmonary fibrosis 58 30 Very rare (1%) Very rare (<4-1%)
HP:0002206
44 renal tubular dysfunction 58 Very frequent (99-80%)
45 tubulointerstitial abnormality 58 Very frequent (99-80%)
46 chronic kidney disease 58 Frequent (79-30%)
47 abnormal cornea morphology 58 Frequent (79-30%)
48 acidosis 58 Very frequent (99-80%)
49 abnormal blood ion concentration 58 Very frequent (99-80%)

MGI Mouse Phenotypes related to Fanconi Syndrome:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 10.19 ALB AVP BCS1L CLCN5 CTNS CUBN
2 renal/urinary system MP:0005367 10.17 ALB AVP BCS1L CLCN5 CTNS CUBN
3 growth/size/body region MP:0005378 10.03 BCS1L CLCN5 CUBN EHHADH GATM HNF4A
4 cellular MP:0005384 9.7 ALB BCS1L CLCN5 CTNS EHHADH GATM
5 mortality/aging MP:0010768 9.44 ALB AVP BCS1L CUBN EHHADH GATM

Drugs & Therapeutics for Fanconi Syndrome

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

(show top 50) (show all 108)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Cyclophosphamide Approved, Investigational Phase 2, Phase 3 50-18-0, 6055-19-2 2907
2
Busulfan Approved, Investigational Phase 2, Phase 3 55-98-1 2478
3
Alemtuzumab Approved, Investigational Phase 2, Phase 3 216503-57-0
4
Fludarabine Approved Phase 2, Phase 3 75607-67-9, 21679-14-1 30751 657237
5
Sirolimus Approved, Investigational Phase 2, Phase 3 53123-88-9 5284616 6436030
6 Antirheumatic Agents Phase 2, Phase 3
7
Iron Approved Phase 2 7439-89-6 29936
8
Deferoxamine Approved, Investigational Phase 2 70-51-9 2973
9
Deferasirox Approved, Investigational Phase 2 201530-41-8 214348 5493381
10
Mycophenolic acid Approved, Investigational Phase 2 24280-93-1 446541
11
Miconazole Approved, Investigational, Vet_approved Phase 2 22916-47-8 4189
12
Clotrimazole Approved, Vet_approved Phase 2 23593-75-1 2812
13
Prednisolone phosphate Approved, Vet_approved Phase 2 302-25-0
14
Prednisolone acetate Approved, Vet_approved Phase 2 52-21-1
15
Prednisolone Approved, Vet_approved Phase 2 50-24-8 4894 5755
16
Methylprednisolone hemisuccinate Approved Phase 2 2921-57-5 1875
17
Methylprednisolone Approved, Vet_approved Phase 2 83-43-2 4159 6741
18
Metformin Approved Phase 2 1115-70-4, 657-24-9 4091
19
Tacrolimus Approved, Investigational Phase 2 104987-11-3 6473866 445643
20
Sargramostim Approved, Investigational Phase 2 123774-72-1
21
Rituximab Approved Phase 1, Phase 2 174722-31-7
22
Olaparib Approved Phase 2 763113-22-0 23725625
23
Pembrolizumab Approved Phase 2 1374853-91-4 254741536
24
Lenograstim Approved, Investigational Phase 2 135968-09-1
25
Danazol Approved Phase 1, Phase 2 17230-88-5 28417
26
Prednisolone hemisuccinate Experimental Phase 2 2920-86-7 4897
27
Molgramostim Investigational Phase 2 99283-10-0
28 Iron Chelating Agents Phase 2
29 Chelating Agents Phase 2
30 Anti-Bacterial Agents Phase 2
31 Anti-Infective Agents Phase 2
32 Calcineurin Inhibitors Phase 2
33 Cyclosporins Phase 2
34 Antifungal Agents Phase 2
35 Antimetabolites Phase 2
36 Antitubercular Agents Phase 2
37 Antibiotics, Antitubercular Phase 2
38 Dermatologic Agents Phase 2
39 Neuroprotective Agents Phase 2
40 Antiemetics Phase 2
41 Anti-Inflammatory Agents Phase 2
42 glucocorticoids Phase 2
43
Methylprednisolone Acetate Phase 2 584547
44 Gastrointestinal Agents Phase 2
45 Protective Agents Phase 2
46 Hypoglycemic Agents Phase 2
47 Poly(ADP-ribose) Polymerase Inhibitors Phase 2
48 Liver Extracts Phase 2
49 Antilymphocyte Serum Phase 2
50 Thymoglobulin Phase 2

Interventional clinical trials:

(show top 50) (show all 87)
# 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 Completed NCT00352976 Phase 2, Phase 3 Cyclophosphamide;Fludarabine;Mycophenolate Mofetil;Sirolimus
3 The Use Of Umbilical Cord Blood As A Source Of Hematopoietic Stem Cells Unknown status NCT00084695 Phase 2 busulfan;cyclophosphamide;fludarabine phosphate;melphalan;methylprednisolone
4 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) Unknown status NCT03157804 Phase 1, Phase 2 Plerixafor
5 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
6 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
7 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
8 A Study of Cyclophosphamide, Fludarabine, and Antithymocyte Globulin Followed by Matched Sibling Donor Hematopoietic Cell Transplantation in Patients With Fanconi Anemia Completed NCT00630253 Phase 1, Phase 2 Cyclophosphamide;Fludarabine;Methylprednisolone;Filgrastim;Cyclosporine;Mycophenolate Mofetil
9 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 Completed NCT02678533 Phase 1, Phase 2 G-CSF;Plerixafor
10 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
11 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
12 Hematopoietic Stem Cell Transplantation in High Risk Patients With Fanconi Anemia MT2002-02 Completed NCT00258427 Phase 2 busulfan;cyclophosphamide;fludarabine phosphate;methylprednisolone
13 Treatment of Diamond Blackfan Anemia With Antithymocyte Globulin and Cyclosporine A Completed NCT00001749 Phase 2 Antithymocyte globulin;Cyclosporine
14 Pilot Study of Metformin for Patients With Fanconi Anemia Completed NCT03398824 Phase 2 metformin HCl
15 Phase II Pilot Study of Granulocyte Colony-Stimulating Factor for Inherited Bone Marrow Failure Syndromes Completed NCT00004787 Phase 2 filgrastim
16 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
17 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
18 A Multicenter Phase II Trial of Hematopoietic Stem Cell Transplantation for the Treatment of Patients With Fanconi Anemia Lacking a Genotypically Identical Donor, Using a Chemotherapy Only Cytoreduction With Busulfan, Cyclophosphamide and Fludarabine Completed NCT00987480 Phase 2 Busulfan, fludarabine, & cyclophosphamide with immunosuppression with ATG and cyclosporine.
19 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
20 Cord Blood Stem Cell Transplantation Study (COBLT) Completed NCT00000603 Phase 2
21 TCRαβ+ T-cell/CD19+ B-cell Depleted Hematopoietic Grafts and a Reduced Intensity Preparative Conditioning Regimen Containing JSP191 to Achieve Engraftment and Blood Reconstitution in Patients With Fanconi Anemia Recruiting NCT04784052 Phase 1, Phase 2 JSP191;Cyclophosphamide;Fludarabine;Rituximab
22 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
23 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
24 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
25 A Phase II Study of Olaparib in Patients With Advanced Biliary Tract Cancer With Aberrant DNA Repair Gene Mutations Recruiting NCT04042831 Phase 2 Olaparib
26 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;Busulfan
27 Eltrombopag for Patients With Fanconi Anemia Recruiting NCT03206086 Phase 2 Eltrombopag
28 Quercetin Chemoprevention for Squamous Cell Carcinoma in Patients With Fanconi Anemia Recruiting NCT03476330 Phase 2 Quercetin (dietary supplement)
29 Immunotherapy in Combination With PARP Inhibition in Advanced Cervical Cancer Patients Functionally Competent or Deficient for the Fanconi Anemia Repair Pathway Recruiting NCT04483544 Phase 2 pembrolizumab;olaparib
30 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 Active, not recruiting NCT03733249 Phase 1, Phase 2 Rimiducid
31 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 2 rimiducid
32 A Multinational, Multicenter, Dose Escalation Study to Evaluate the Safety, Tolerability, Pharmacokinetics, and Preliminary Activity of FP 045 in Patients With Fanconi Anemia Not yet recruiting NCT04522375 Phase 1, Phase 2 FP-045
33 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
34 Phase I/II Dose Escalation Trial of Danazol in Patients With Fanconi Anemia or Dyskeratosis Congenita Terminated NCT01001598 Phase 1, Phase 2 danazol
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 Terminated NCT03600909 Phase 2 Busulfan;Fludarabine;Cyclophosphamide;Anti-Thymocyte Globulin (Rabbit);G-CSF
36 Cd45 (Yth-24 and Yth 54) and Cd52 (Campath-1H) Monoclonal Antibody Conditioning Regimen for Allogeneic Donor Stem Cell Transplantation of Patients With Fanconi Anemia Terminated NCT00590460 Phase 1, Phase 2 Fludarabine
37 A Phase 2, Single Center, Open-Label, Multiple Dose Escalation Study to Evaluate the Safety, Tolerability, Pharmacokinetics, and Pharmacodynamics of Daily Subcutaneously Administered ELX-02 in Patients With Nephropathic Cystinosis Bearing One or More CTNS Gene (Cystinosin) Nonsense Mutations Terminated NCT04069260 Phase 2 ELX-02
38 A Phase I Clinical Trial to Evaluate the Safety of the Infusion of Autologous CD34+ Cells Transduced With a Lentiviral Vector Carrying the FANCA Gene in Pediatric Subjects With Fanconi Anemia Subtype A Unknown status NCT03814408 Phase 1
39 Phase I Study of Amifostine in Patients With Bone Marrow Failure Related to Fanconi's Anemia Unknown status NCT00006127 Phase 1 amifostine
40 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
41 Gene Transfer From Patients With Fanconi Anemia, Genotype A: A Pilot Study Completed NCT00272857 Phase 1
42 Dose-Finding Study for Cyclophosphamide as Conditioning Regimens for Bone Marrow Transplantation From Related Donors in Patients With Fanconi Anemia Completed NCT00317876 Phase 1 cyclophosphamide;cyclosporine;methotrexate
43 A Pilot Trial of Oxandrolone for the Treatment of Bone Marrow Aplasia in Patients With Fanconi Anemia Completed NCT00243399 Phase 1 Oxandrolone
44 Low-Dose Total Body Irradiation and Fludarabine Followed By Unrelated Donor Stem Cell Transplantation for Patients With Fanconi Anemia - A Multicenter Trial Completed NCT00093743 Phase 1 fludarabine phosphate;cyclosporine;mycophenolate mofetil
45 Retroviral Mediated Gene Transfer of the Fanconi Anemia Complementation Group C Gene to Hematopoietic Progenitors of Group C Patients Completed NCT00001399 Phase 1 Transduced CD34+ Cells
46 Abatacept for Post-Transplant Immune Suppression in Children and Adolescents Receiving Allogeneic Hematopoietic Stem Cell Transplants for Non-Malignant Diseases Completed NCT01917708 Phase 1 Abatacept
47 Gene Transfer for Patients With Fanconi Anemia Complementation Group A (FANCA) Active, not recruiting NCT01331018 Phase 1 Methylprednisolone;Plerixafor;Prednisone
48 Quercetin in Children With Fanconi Anemia; a Pilot Study Active, not recruiting NCT01720147 Phase 1 Quercetin (dietary supplement)
49 A Phase I Study Evaluating The Use Of Rft5-Dga To Deplete Alloreactive Cells For Patients With Fanconi Anemia After Haploidentical Stem Cell Transplantation Terminated NCT00586274 Phase 1 Fludarabine
50 Cure Cystinosis International Registry Unknown status NCT01327807

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
2 Infantile Nephropathic Cystinosis 28

Anatomical Context for Fanconi Syndrome

Organs/tissues related to Fanconi Syndrome:

MalaCards : Kidney, Bone Marrow, Bone, T Cells, Thyroid, Myeloid, Liver

Publications for Fanconi Syndrome

Articles related to Fanconi Syndrome:

(show top 50) (show all 1567)
# Title Authors PMID Year
1
Genetic and clinical profile of patients with hypophosphatemic rickets. 62 5
35738466 2022
2
Glycine Amidinotransferase (GATM), Renal Fanconi Syndrome, and Kidney Failure. 62 5
29654216 2018
3
Nephropathic cystinosis in Poland: a 40-year retrospective study. 62
35997069 2022
4
Altered Serum Uric Acid Levels in Kidney Disorders. 62
36431026 2022
5
Comprehensive analysis of clinical and laboratory features of 440 published cases of Sjögren's syndrome and renal tubular acidosis. 62
36324184 2022
6
Analysis of tear film in cystinosis patients treated with topical viscous cysteamine hydrochloride (Cystadrops®). 62
35125035 2022
7
Lessons for the clinical nephrologist: lenalidomide-induced Fanconi syndrome in a patient with multiple myeloma post stem cell transplantation. 62
36089632 2022
8
Outcome of Acquired Fanconi Syndrome Associated with Ingestion of Jerky Treats in 30 Dogs. 62
36428419 2022
9
A Case of Fanconi Syndrome Associated with Long-term Treatment with Zoledronate. 62
36450467 2022
10
Non-crystalline light chain proximal tubulopathy associated with monoclonal gammopathy of renal significance: A case report and review of the literature. 62
36444974 2022
11
Carboplatin induced Fanconi syndrome in a post nephrectomised child with Wilms tumour. 62
35621389 2022
12
Multiple level spinal fractures due to adefovir-induced Fanconi syndrome and hypophosphatemic osteomalacia: A case report. 62
36274000 2022
13
Metabolic Advantage of 25(OH)D3 versus 1,25(OH)2D3 Supplementation in Infantile Nephropathic Cystinosis-Associated Adipose Tissue Browning and Muscle Wasting. 62
36291130 2022
14
Rickets guidance: part II-management. 62
35352187 2022
15
Zoledronic Acid-Associated Fanconi Syndrome in Patients With Cancer. 62
35219759 2022
16
Clinic-pathological characteristics of rare tubulointerstitial diseases. 62
36411687 2022
17
A novel variant in GATM causes idiopathic renal Fanconi syndrome and predicts progression to end-stage kidney disease. 62
36148635 2022
18
Outcome of infantile nephropathic cystinosis depends on early intervention, not genotype: A multicenter sibling cohort study. 62
36117148 2022
19
[Hypophosphatemia: cause or consequence?] 62
36170139 2022
20
Primary biliary cholangitis presenting with Fanconi syndrome: an important phenotype. 62
35973749 2022
21
Lambda light chain-induced monoclonal gammopathy of renal significance, manifesting with Fanconi Syndrome and osteomalacia. 62
35945525 2022
22
Transient Fanconi Syndrome in a Child with Acute COVID-19 Infection: Authors' Reply. 62
35704213 2022
23
Cystinosin-deficient rats recapitulate the phenotype of nephropathic cystinosis. 62
35695380 2022
24
Transient Fanconi Syndrome in a Child with Acute COVID-19 Infection: Correspondence. 62
35587308 2022
25
Fanconi Syndrome in an Adult With Chronic Alcohol Use Disorder: A Rare Etiology. 62
36158425 2022
26
Relationship between age at initiation of cysteamine treatment, adherence with therapy, and glomerular kidney function in infantile nephropathic cystinosis. 62
35835062 2022
27
Beneficial effects of starting oral cysteamine treatment in the first 2 months of life on glomerular and tubular kidney function in infantile nephropathic cystinosis. 62
35843134 2022
28
Early switching of tenofovir disoproxil fumarate (TDF) in HIV-infected patients with TDF-induced nephrotoxicity: a prospective study. 62
36065999 2022
29
Suspected Fanconi syndrome from cadmium toxicity exacerbated by heavy kratom use. A rare occurrence. 62
35323068 2022
30
Fanconi syndrome-associated interstitial lung disease. 62
35787496 2022
31
Acute kidney injury manifesting as renal tubular acidosis with proximal and distal renal tubular dysfunction in a dog with acute pancreatitis. 62
35129879 2022
32
Clinical Images: Tenofovir-Induced Fanconi Syndrome: An Uncommon Cause of Hypophosphatemic Osteomalacia. 62
35132821 2022
33
Fanconi syndrome in a patient receiving pre-exposure prophylaxis for HIV infection: case report. 62
35614021 2022
34
Aminoaciduria and metabolic dysregulation during diabetic ketoacidosis: Results from the diabetic kidney alarm (DKA) study. 62
35523653 2022
35
Effects of pediatric chronic kidney disease and its etiology on tissue sodium concentration: a pilot study. 62
35655040 2022
36
Valproic acid as an adjuvant analgesic: adult Fanconi syndrome. 62
35764376 2022
37
Fanconi syndrome in an elderly patient with membranous nephropathy during treatment with the immunosuppressant mizoribine. 62
35749014 2022
38
Drug toxicity in the proximal tubule: new models, methods and mechanisms. 62
34050397 2022
39
Fanconi Syndrome Secondary to Sodium Valproate Therapy: Experience and Literature Review. 62
35364461 2022
40
Clinical and genetic characteristics of Tunisian children with infantile nephropathic cystinosis. 62
35445972 2022
41
Urine-Derived Kidney Progenitor Cells in Cystinosis. 62
35406807 2022
42
More than tubular dysfunction: cystinosis and kidney outcomes. 62
34097292 2022
43
Body growth, upper arm fat area, and clinical parameters in children with nephropathic cystinosis compared with other pediatric chronic kidney disease entities. 62
34989402 2022
44
Newborn Screening: Review of its Impact for Cystinosis. 62
35406673 2022
45
Ifosfamide as a Cause of Fanconi Syndrome. 62
35371860 2022
46
Clinicopathologic Features of Mitochondrial Nephropathy. 62
35257070 2022
47
BCS1L mutations produce Fanconi syndrome with developmental disability. 62
34650211 2022
48
Cystinosis in Pediatric Renal Transplant Recipients: A Case-Control Study From Kuwait. 62
35384816 2022
49
Neuromuscular conditions and the impact of cystine-depleting therapy in infantile nephropathic cystinosis: A cross-sectional analysis of 55 patients. 62
34888877 2022
50
Simultaneous Occurrence of Nephrolithiasis, Fanconi Syndrome, and Nephro-osteopathy in a Patient on First-line Antiretroviral Therapy - A Case Report. 62
35603118 2022

Variations for Fanconi Syndrome

ClinVar genetic disease variations for Fanconi Syndrome:

5 (show all 12)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 GATM NM_001482.3(GATM):c.958C>T (p.Pro320Ser) SNV Pathogenic
917493 rs1889443535 GRCh37: 15:45658264-45658264
GRCh38: 15:45366066-45366066
2 GATM NM_001482.3(GATM):c.1006A>G (p.Thr336Ala) SNV Pathogenic
917494 rs1889422994 GRCh37: 15:45657031-45657031
GRCh38: 15:45364833-45364833
3 GATM NM_001482.3(GATM):c.1022C>T (p.Pro341Leu) SNV Pathogenic
917496 rs1889422661 GRCh37: 15:45657015-45657015
GRCh38: 15:45364817-45364817
4 CTNS NM_004937.3(CTNS):c.18_21del (p.Thr7fs) DEL Pathogenic
188834 rs786204501 GRCh37: 17:3543516-3543519
GRCh38: 17:3640222-3640225
5 CTNS NM_004937.3(CTNS):c.971-12G>A SNV Pathogenic
526030 rs375952052 GRCh37: 17:3563518-3563518
GRCh38: 17:3660224-3660224
6 GATM NM_001482.3(GATM):c.1007C>T (p.Thr336Ile) SNV Pathogenic
917495 rs1481334244 GRCh37: 15:45657030-45657030
GRCh38: 15:45364832-45364832
7 GATM NM_001482.3(GATM):c.259T>C (p.Cys87Arg) SNV Likely Pathogenic
1339450 GRCh37: 15:45668828-45668828
GRCh38: 15:45376630-45376630
8 GATM NM_001482.3(GATM):c.965G>C (p.Arg322Pro) SNV Likely Pathogenic
1702865 GRCh37: 15:45658257-45658257
GRCh38: 15:45366059-45366059
9 CTNS-AS1, CTNS NM_004937.3(CTNS):c.559_561+24del DEL Likely Pathogenic
21442 rs113994211 GRCh37: 17:3559867-3559893
GRCh38: 17:3656573-3656599
10 EHHADH NM_001966.4(EHHADH):c.1816_1817insG (p.Thr606fs) INSERT Uncertain Significance
548610 rs1553775828 GRCh37: 3:184910369-184910370
GRCh38: 3:185192581-185192582
11 GATM NM_001482.3(GATM):c.1252T>C (p.Leu418=) SNV Benign
129137 rs1145086 GRCh37: 15:45654327-45654327
GRCh38: 15:45362129-45362129
12 GATM NM_001482.3(GATM):c.330A>T (p.Gln110His) SNV Benign
129138 rs1288775 GRCh37: 15:45661678-45661678
GRCh38: 15:45369480-45369480

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
12.41 SLC34A3 SLC34A1 SLC2A2 SLC22A12 CUBN CTNS
2
Show member pathways
11.99 SLC34A3 SLC34A1 SLC2A2 SLC22A12 AVP
3
Show member pathways
11.67 SLC2A2 HNF4A CLCN5
4 11.25 SLC34A3 SLC34A1 SLC2A2
5
Show member pathways
11.07 SLC2A2 HNF4A ALB
7 10.32 LRP2 CUBN

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 10 UMOD SLC34A3 SLC34A1 SLC2A2 SLC22A12 LRP2
2 clathrin-coated pit GO:0005905 9.73 OCRL LRP2 CUBN
3 brush border GO:0005903 9.56 SLC34A3 SLC34A1 SLC2A2 LRP2 CUBN
4 brush border membrane GO:0031526 9.32 SLC34A3 SLC34A1 SLC22A12 LRP2 CUBN

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 10.13 UMOD OCRL LRP2 HNF4A EHHADH CUBN
2 cobalamin transport GO:0015889 9.78 LRP2 CUBN
3 urate transport GO:0015747 9.76 UMOD SLC22A12
4 sodium-dependent phosphate transport GO:0044341 9.71 SLC34A3 SLC34A1
5 cellular response to phosphate starvation GO:0016036 9.62 SLC34A1 XPR1
6 renal urate salt excretion GO:0097744 9.56 SLC22A12 UMOD
7 phosphate ion homeostasis GO:0055062 9.55 UMOD SLC34A1 PTH
8 response to parathyroid hormone GO:0071107 9.54 SLC34A1 PTH
9 phosphate ion transport GO:0006817 9.43 XPR1 SLC34A3 SLC34A1
10 cellular phosphate ion homeostasis GO:0030643 9.23 XPR1 UMOD SLC34A3 SLC34A1

Molecular functions related to Fanconi Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 sodium:phosphate symporter activity GO:0005436 8.92 SLC34A3 SLC34A1

Sources for Fanconi Syndrome

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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