MCID: PRM200
MIFTS: 26

Primary Fanconi Syndrome

Categories: Rare diseases, Nephrological diseases

Aliases & Classifications for Primary Fanconi Syndrome

MalaCards integrated aliases for Primary Fanconi Syndrome:

Name: Primary Fanconi Syndrome 53 59
Primary Fanconi Renotubular Syndrome 53 59
De Toni-Debre-Fanconi Syndrome 73

Characteristics:

Orphanet epidemiological data:

59
primary fanconi syndrome
Inheritance: Autosomal dominant,Autosomal recessive;

Classifications:

Orphanet: 59  
Rare renal diseases


External Ids:

Orphanet 59 ORPHA3337
ICD10 via Orphanet 34 E72.0
UMLS 73 C1857395

Summaries for Primary Fanconi Syndrome

NIH Rare Diseases : 53 Fanconi syndromeis a condition in which the kidneys do not absorb certain substances into the body.  These substances, such as cysteine, fructose, galactose, or glycogen, are lost in the urine.  Fanconi syndrome is thought to be caused by genetic and environmental factors, and it may be diagnosed at any age.  Symptoms of Fanconi syndrome include increased urine production (which may cause dehydration), weakness, and abnormalities of the bones.

MalaCards based summary : Primary Fanconi Syndrome, also known as primary fanconi renotubular syndrome, is related to fanconi syndrome and renal tubular acidosis, proximal. An important gene associated with Primary Fanconi Syndrome is SLC34A1 (Solute Carrier Family 34 Member 1). The drugs Vidarabine and alemtuzumab have been mentioned in the context of this disorder. Affiliated tissues include bone, bone marrow and kidney, and related phenotypes are Increased shRNA abundance (Z-score > 2) and Increased shRNA abundance (Z-score > 2)

Related Diseases for Primary Fanconi Syndrome

Diseases in the Fanconi Syndrome family:

Fanconi-Like Syndrome Primary Fanconi Syndrome

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

# Related Disease Score Top Affiliating Genes
1 fanconi syndrome 28.7 EHHADH SLC34A1
2 renal tubular acidosis, proximal 9.6
3 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 9.6
4 renal tubular acidosis 9.6
5 aminoaciduria 9.0 EHHADH SLC34A1

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



Diseases related to Primary Fanconi Syndrome

Symptoms & Phenotypes for Primary Fanconi Syndrome

GenomeRNAi Phenotypes related to Primary Fanconi Syndrome according to GeneCards Suite gene sharing:

26 (show all 11)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-100 9.4 EHHADH
2 Increased shRNA abundance (Z-score > 2) GR00366-A-11 9.4 EHHADH
3 Increased shRNA abundance (Z-score > 2) GR00366-A-130 9.4 EHHADH
4 Increased shRNA abundance (Z-score > 2) GR00366-A-138 9.4 EHHADH SLC34A1
5 Increased shRNA abundance (Z-score > 2) GR00366-A-149 9.4 SLC34A1
6 Increased shRNA abundance (Z-score > 2) GR00366-A-19 9.4 SLC34A1
7 Increased shRNA abundance (Z-score > 2) GR00366-A-214 9.4 SLC34A1
8 Increased shRNA abundance (Z-score > 2) GR00366-A-46 9.4 EHHADH
9 Increased shRNA abundance (Z-score > 2) GR00366-A-76 9.4 EHHADH
10 Increased shRNA abundance (Z-score > 2) GR00366-A-79 9.4 EHHADH
11 Increased shRNA abundance (Z-score > 2) GR00366-A-81 9.4 EHHADH

MGI Mouse Phenotypes related to Primary Fanconi Syndrome:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 muscle MP:0005369 8.62 EHHADH SLC34A1

Drugs & Therapeutics for Primary Fanconi Syndrome

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

(show top 50) (show all 98)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Vidarabine Approved, Investigational Phase 2, Phase 3,Phase 1,Not Applicable 24356-66-9 32326 21704
2
alemtuzumab Approved, Investigational Phase 2, Phase 3,Phase 1 216503-57-0
3
Fludarabine Approved Phase 2, Phase 3,Phase 3,Phase 1,Not Applicable 21679-14-1, 75607-67-9 30751
4
Cyclophosphamide Approved, Investigational Phase 2, Phase 3,Phase 3,Phase 1,Not Applicable 50-18-0, 6055-19-2 2907
5
Busulfan Approved, Investigational Phase 2, Phase 3,Phase 1,Not Applicable 55-98-1 2478
6
Cysteamine Approved, Investigational Phase 3,Phase 1,Phase 2,Not Applicable 60-23-1 6058
7
Miconazole Approved, Investigational, Vet_approved Phase 2, Phase 3,Phase 1,Not Applicable 22916-47-8 4189
8
Mycophenolic acid Approved Phase 2, Phase 3,Phase 1,Not Applicable 24280-93-1 446541
9
Mycophenolate mofetil Approved, Investigational Phase 2, Phase 3,Phase 1,Not Applicable 128794-94-5 5281078
10
Everolimus Approved Phase 2, Phase 3 159351-69-6 6442177
11
Sirolimus Approved, Investigational Phase 2, Phase 3 53123-88-9 5284616 6436030 46835353
12 Alkylating Agents Phase 2, Phase 3,Phase 3,Phase 1,Not Applicable
13 Immunosuppressive Agents Phase 2, Phase 3,Phase 3,Phase 1,Not Applicable
14 Anti-Infective Agents Phase 2, Phase 3,Phase 3,Phase 1,Not Applicable
15 Antirheumatic Agents Phase 2, Phase 3,Phase 3,Phase 1,Not Applicable
16 Antimetabolites Phase 2, Phase 3,Phase 3,Phase 1,Not Applicable
17 Antiviral Agents Phase 2, Phase 3,Phase 1,Not Applicable
18 Antimetabolites, Antineoplastic Phase 2, Phase 3,Phase 3,Phase 1,Not Applicable
19 Antineoplastic Agents, Alkylating Phase 2, Phase 3,Phase 3,Phase 1,Not Applicable
20 Anti-Bacterial Agents Phase 2, Phase 3,Phase 1,Not Applicable
21 Antibiotics, Antitubercular Phase 2, Phase 3,Phase 1,Not Applicable
22 Antifungal Agents Phase 2, Phase 3,Phase 1,Not Applicable
23 Antitubercular Agents Phase 2, Phase 3,Phase 1,Not Applicable
24
Lenograstim Approved, Investigational Phase 1, Phase 2,Phase 2,Not Applicable 135968-09-1
25
Prednisolone Approved, Vet_approved Phase 2,Phase 1,Not Applicable 50-24-8 5755
26
Melphalan Approved Phase 2,Not Applicable 148-82-3 4053 460612
27
Methylprednisolone Approved, Vet_approved Phase 2,Phase 1,Not Applicable 83-43-2 6741
28
Iron Approved Phase 2 7439-89-6 23925
29
Deferoxamine Approved, Investigational Phase 2 70-51-9 2973
30
Deferasirox Approved, Investigational Phase 2 201530-41-8 5493381
31
Metformin Approved Phase 2 657-24-9 14219 4091
32
Danazol Approved Phase 1, Phase 2 17230-88-5 28417
33 Prednisolone acetate Phase 2,Phase 1,Not Applicable
34 glucocorticoids Phase 2,Phase 1,Not Applicable
35 Methylprednisolone acetate Phase 2,Phase 1,Not Applicable
36 Methylprednisolone Hemisuccinate Phase 2,Phase 1,Not Applicable
37 Gastrointestinal Agents Phase 2,Phase 1,Not Applicable
38 Neuroprotective Agents Phase 2,Phase 1,Not Applicable
39 Hormone Antagonists Phase 2,Phase 1,Not Applicable
40 Hormones Phase 2,Phase 1,Not Applicable
41 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 2,Phase 1,Not Applicable
42 Peripheral Nervous System Agents Phase 2,Phase 1,Not Applicable
43 Prednisolone hemisuccinate Phase 2,Phase 1,Not Applicable
44 Prednisolone phosphate Phase 2,Phase 1,Not Applicable
45 Antiemetics Phase 2,Phase 1,Not Applicable
46 Protective Agents Phase 2,Phase 1,Not Applicable
47 Anti-Inflammatory Agents Phase 2,Phase 1,Not Applicable
48 Antilymphocyte Serum Phase 2,Phase 1,Not Applicable
49 Autonomic Agents Phase 2,Phase 1,Not Applicable
50 Antineoplastic Agents, Hormonal Phase 2,Phase 1,Not Applicable

Interventional clinical trials:

(show top 50) (show all 67)
# Name Status NCT ID Phase Drugs
1 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
2 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)
3 TBI Dose De-escalation for Fanconi Anemia Recruiting NCT00352976 Phase 2, Phase 3 Cyclophosphamide;Fludarabine;Mycophenolate Mofetil;Sirolimus
4 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
5 Study of Deferasirox in Iron Overload From Beta-thalassemia Unable to be Treated With Deferoxamine or Chronic Anemias Completed NCT00061763 Phase 2 Deferasirox
6 Pilot Study of Safety, Tolerability, Pharmacokinetics/Pharmacodynamics of RP103 Compared to Cystagon® in Patients With Cystinosis Completed NCT00872729 Phase 1, Phase 2 Cystagon®;RP103
7 Multicenter Transplant Study for Fanconi Anemia Completed NCT01082133 Phase 2 Chemotherapy
8 Hematopoietic Stem Cell Transplant for Fanconi Anemia Completed NCT01071239 Phase 2 Busulfan;Fludarabine;Cyclophosphamide;ATG
9 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
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 Medical Treatment for Diamond Blackfan Anemia Completed NCT00001749 Phase 2 Antithymocyte globulin;Cyclosporine
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 II Pilot Study of Granulocyte Colony-Stimulating Factor for Inherited Bone Marrow Failure Syndromes Completed NCT00004787 Phase 2 filgrastim
14 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
15 Cord Blood Stem Cell Transplantation Study (COBLT) Completed NCT00000603 Phase 2
16 Pilot Study of Metformin for Patients With Fanconi Anemia Recruiting NCT03398824 Phase 2 metformin HCl
17 Eltrombopag for People With Fanconi Anemia Recruiting NCT03206086 Phase 2 Eltrombopag
18 Lentiviral-mediated Gene Therapy of Fanconi Anemia Patients Subtype A Recruiting NCT03157804 Phase 1, Phase 2 Plerixafor
19 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
20 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
21 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
22 Hematopoietic Stem Cell Transplantation in High Risk Patients With Fanconi Anemia Recruiting NCT00258427 Phase 2 busulfan;cyclophosphamide;fludarabine phosphate;methylprednisolone
23 Quercetin Chemoprevention for Squamous Cell Carcinoma in Patients With Fanconi Anemia Recruiting NCT03476330 Phase 2 Quercetin (dietary supplement)
24 HSCT for Patients With Fanconi Anemia Using Risk-Adjusted Chemotherapy Recruiting NCT02143830 Phase 2 Busulfan;Cyclophosphamide;Fludarabine;rabbit ATG;G-CSF
25 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
26 Stem Cell Transplantation for Fanconi Anemia Terminated NCT00167206 Phase 1, Phase 2 Cyclophosphamide, Fludarabine
27 Safety and Efficacy Trial of Danazol in Patients With Fanconi Anemia or Dyskeratosis Congenita Terminated NCT01001598 Phase 1, Phase 2 danazol
28 Antibody Conditioning Regimen For Allogeneic Donor Stem Cell Transplantation Of Patients With Fanconi Anemia Terminated NCT00590460 Phase 1, Phase 2 Fludarabine
29 Phase I Study of Amifostine in Patients With Bone Marrow Failure Related to Fanconi's Anemia Unknown status NCT00006127 Phase 1 amifostine
30 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
31 Cyclophosphamide in Treating Patients Who Are Undergoing a Donor Bone Marrow Transplant for Fanconi's Anemia Completed NCT00317876 Phase 1 cyclophosphamide;cyclosporine;methotrexate
32 Bone Marrow Cell Gene Transfer in Individuals With Fanconi Anemia Completed NCT00272857 Phase 1
33 Oxandrolone for the Treatment of Bone Marrow Aplasia in Fanconi Anemia Completed NCT00243399 Phase 1 Oxandrolone
34 Gene Therapy for the Treatment of Fanconi's Anemia Type C Completed NCT00001399 Phase 1 Transduced CD34+ Cells
35 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
36 Quercetin in Children With Fanconi Anemia; a Pilot Study Recruiting NCT01720147 Phase 1 Quercetin (dietary supplement)
37 Gene Therapy for Fanconi Anemia Recruiting NCT01331018 Phase 1 Methylprednisolone;Plerixafor;Prednisone
38 BMT Abatacept for Non-Malignant Diseases Recruiting NCT01917708 Phase 1 Abatacept
39 Use of Rft5-Dga to Deplete Alloreactive Cells for Pts With Fanconi Anemia After Haploidentical SCT Terminated NCT00586274 Phase 1 Fludarabine
40 Study of Fludarabine Drug Exposure in Pediatric Bone Marrow Transplantation Unknown status NCT01316549
41 Fanconi Syndrome Due to ARVs in HIV-Infected Persons Completed NCT00499187
42 Evaluation of Fanconi Syndrome and Cystinosis Completed NCT00004350
43 Assessment and Monitoring of Renal Proximal Tubular Tolerance of Nucleoside and Nucleotide Analogues Using Early Screening Tools in Patients Chronically Mono-infected With Hepatitis B Virus Completed NCT01500265
44 Study in Healthy Adults to Determine the Effect That Food Has on the Absorption and Delivery of the Drug Cystagon™ Completed NCT01432561 Not Applicable Cysteamine bitartrate
45 Pilot Study of Etanercept (Enbrel) in Children With Fanconi Anemia Completed NCT00965666 Not Applicable Etanercept
46 Hematopoietic Stem Cell Transplantation for Treatment of Patients With Fanconi Anemia Lacking a Genotypically Identical Donor, Using Total Body Irradiation, Cyclophosphamide and Fludarabine Completed NCT00595127 Not Applicable Cyclophosphamide;Fludarabine
47 Blood Cell Collection for Future Use in Individuals With Fanconi Anemia Completed NCT00271089 Not Applicable
48 Study of Allogeneic Bone Marrow Transplantation Following Cyclophosphamide and Radiotherapy in Patients With Fanconi's Anemia Completed NCT00005891 Not Applicable cyclophosphamide
49 Tissue Sample Collection From Patients With Fanconi Anemia Completed NCT00899522
50 The Role of Susceptibility to Thrombosis in the Pseudotumor Cerebri of Nephropathic Cystinosis: A Case-Control Study Completed NCT00071903

Search NIH Clinical Center for Primary Fanconi Syndrome

Genetic Tests for Primary Fanconi Syndrome

Anatomical Context for Primary Fanconi Syndrome

MalaCards organs/tissues related to Primary Fanconi Syndrome:

41
Bone, Bone Marrow, Kidney, Myeloid

Publications for Primary Fanconi Syndrome

Articles related to Primary Fanconi Syndrome:

# Title Authors Year
1
Comparison of growth in primary Fanconi syndrome and proximal renal tubular acidosis. ( 15703948 )
2005
2
Primary Fanconi syndrome. ( 9357213 )
1997
3
Two case studies from a family with primary Fanconi syndrome. ( 2919605 )
1989
4
Hypercalciuria in a child with primary Fanconi syndrome and hearing loss. ( 6853042 )
1983

Variations for Primary Fanconi Syndrome

Expression for Primary Fanconi Syndrome

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

Pathways for Primary Fanconi Syndrome

GO Terms for Primary Fanconi Syndrome

Sources for Primary Fanconi Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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