MCID: PRM200
MIFTS: 27

Primary Fanconi Syndrome

Categories: Nephrological diseases, Rare diseases

Aliases & Classifications for Primary Fanconi Syndrome

MalaCards integrated aliases for Primary Fanconi Syndrome:

Name: Primary Fanconi Syndrome 54 60
Primary Fanconi Renotubular Syndrome 54 60
De Toni-Debre-Fanconi Syndrome 74

Characteristics:

Orphanet epidemiological data:

60
primary fanconi syndrome
Inheritance: Autosomal dominant,Autosomal recessive;

Classifications:

Orphanet: 60  
Rare renal diseases


External Ids:

ICD10 via Orphanet 35 E72.0
Orphanet 60 ORPHA3337
UMLS 74 C1857395

Summaries for Primary Fanconi Syndrome

NIH Rare Diseases : 54 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 Fludarabine and Cyclophosphamide 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 29.6 EHHADH SLC34A1
2 renal tubular acidosis, proximal 9.8
3 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 9.8
4 renal tubular acidosis 9.8
5 aminoaciduria 9.5 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:

27 (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:

47
# 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 107)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Fludarabine Approved Phase 2, Phase 3,Phase 3,Phase 1,Not Applicable 75607-67-9, 21679-14-1 30751
2
Cyclophosphamide Approved, Investigational Phase 2, Phase 3,Phase 3,Phase 1,Not Applicable 6055-19-2, 50-18-0 2907
3
alemtuzumab Approved, Investigational Phase 2, Phase 3,Phase 1 216503-57-0
4
Busulfan Approved, Investigational Phase 2, Phase 3,Phase 1,Not Applicable 55-98-1 2478
5
Vidarabine Approved, Investigational Phase 2, Phase 3,Phase 1,Not Applicable 24356-66-9 21704 32326
6
Cysteamine Approved, Investigational Phase 3,Phase 1,Phase 2,Not Applicable 60-23-1 6058
7
Mycophenolic acid Approved Phase 2, Phase 3,Phase 1,Not Applicable 24280-93-1 446541
8
Miconazole Approved, Investigational, Vet_approved Phase 2, Phase 3,Phase 1,Not Applicable 22916-47-8 4189
9
Sirolimus Approved, Investigational Phase 2, Phase 3 53123-88-9 46835353 6436030 5284616
10
Everolimus Approved Phase 2, Phase 3 159351-69-6 6442177 70789204
11 Antineoplastic Agents, Alkylating Phase 2, Phase 3,Phase 3,Phase 1,Not Applicable
12 Antiviral Agents Phase 2, Phase 3,Phase 1,Not Applicable
13 Antimetabolites 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 Immunosuppressive Agents Phase 2, Phase 3,Phase 3,Phase 1,Not Applicable
16 Antimetabolites, Antineoplastic Phase 2, Phase 3,Phase 3,Phase 1,Not Applicable
17 Immunologic Factors Phase 2, Phase 3,Phase 3,Phase 1,Not Applicable
18 Alkylating Agents Phase 2, Phase 3,Phase 3,Phase 1,Not Applicable
19 Antirheumatic Agents Phase 2, Phase 3,Phase 3,Phase 1,Not Applicable
20 Anti-Bacterial Agents Phase 2, Phase 3,Phase 1,Not Applicable
21 Antifungal Agents Phase 2, Phase 3,Phase 1,Not Applicable
22 Antibiotics, Antitubercular Phase 2, Phase 3,Phase 1,Not Applicable
23 Antitubercular Agents Phase 2, Phase 3,Phase 1,Not Applicable
24
Lenograstim Approved, Investigational Phase 2,Phase 1,Not Applicable 135968-09-1
25
Prednisolone phosphate Approved, Vet_approved Phase 2,Phase 1,Not Applicable 302-25-0
26
Prednisolone Approved, Vet_approved Phase 2,Phase 1,Not Applicable 50-24-8 5755
27
Melphalan Approved Phase 2,Not Applicable 148-82-3 460612 4053
28
Methylprednisolone hemisuccinate Approved Phase 2,Phase 1,Not Applicable 2921-57-5
29
Methylprednisolone Approved, Vet_approved Phase 2,Phase 1,Not Applicable 83-43-2 6741
30
Iron Approved, Experimental Phase 2 7439-89-6, 15438-31-0 23925 27284
31
Deferoxamine Approved, Investigational Phase 2 70-51-9 2973
32
Deferasirox Approved, Investigational Phase 2 201530-41-8 5493381
33
Sargramostim Approved, Investigational Phase 2,Phase 1 123774-72-1, 83869-56-1
34
Metformin Approved Phase 2 657-24-9 14219 4091
35
rituximab Approved Phase 2 174722-31-7 10201696
36
Danazol Approved Phase 1, Phase 2 17230-88-5 28417
37
Prednisolone hemisuccinate Experimental Phase 2,Phase 1,Not Applicable 2920-86-7
38
Quercetin Experimental, Investigational Phase 2,Phase 1 117-39-5 5280343
39
Emodepside Investigational, Vet_approved Phase 2 155030-63-0
40 Anti-Retroviral Agents Phase 2,Phase 1
41 Plerixafor octahydrochloride Phase 2,Phase 1
42 Anti-HIV Agents Phase 2,Phase 1
43 Adjuvants, Immunologic Phase 2,Phase 1
44 Anti-Inflammatory Agents Phase 2,Phase 1,Not Applicable
45 Peripheral Nervous System Agents Phase 2,Phase 1,Not Applicable
46 Prednisolone acetate Phase 2,Phase 1,Not Applicable
47 Autonomic Agents Phase 2,Phase 1,Not Applicable
48 Hormones Phase 2,Phase 1,Not Applicable
49 glucocorticoids Phase 2,Phase 1,Not Applicable
50 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 2,Phase 1,Not Applicable

Interventional clinical trials:

(show top 50) (show all 75)
# 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 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
5 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
6 Study of Deferasirox in Iron Overload From Beta-thalassemia Unable to be Treated With Deferoxamine or Chronic Anemias Completed NCT00061763 Phase 2 Deferasirox
7 Pilot Study of Safety, Tolerability, Pharmacokinetics/Pharmacodynamics of RP103 Compared to Cystagon® in Patients With Cystinosis Completed NCT00872729 Phase 1, Phase 2 Cystagon®;RP103
8 Multicenter Transplant Study for Fanconi Anemia Completed NCT01082133 Phase 2 Chemotherapy
9 Hematopoietic Stem Cell Transplant for Fanconi Anemia Completed NCT01071239 Phase 2 Busulfan;Fludarabine;Cyclophosphamide;ATG
10 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
11 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
12 Medical Treatment for Diamond Blackfan Anemia Completed NCT00001749 Phase 2 Antithymocyte globulin;Cyclosporine
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 II Pilot Study of Granulocyte Colony-Stimulating Factor for Inherited Bone Marrow Failure Syndromes Completed NCT00004787 Phase 2 filgrastim
15 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
16 Cord Blood Stem Cell Transplantation Study (COBLT) Completed NCT00000603 Phase 2
17 Pilot Study of Metformin for Patients With Fanconi Anemia Recruiting NCT03398824 Phase 2 metformin HCl
18 Eltrombopag for People With Fanconi Anemia Recruiting NCT03206086 Phase 2 Eltrombopag
19 Lentiviral-mediated Gene Therapy of Fanconi Anemia Patients Subtype A Recruiting NCT03157804 Phase 1, Phase 2 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 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);Rituximab
25 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
26 HSCT for Patients With Fanconi Anemia Using Risk-Adjusted Chemotherapy Recruiting NCT02143830 Phase 2 Busulfan;Cyclophosphamide;Fludarabine;rabbit ATG;G-CSF
27 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
28 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
29 Long Term Follow-up Study for Patients Enrolled on the BP-004 Clinical Study Enrolling by invitation NCT03733249 Phase 1, Phase 2 Rimiducid
30 Stem Cell Transplantation for Fanconi Anemia Terminated NCT00167206 Phase 1, Phase 2 Cyclophosphamide, Fludarabine
31 Safety and Efficacy Trial of Danazol in Patients With Fanconi Anemia or Dyskeratosis Congenita Terminated NCT01001598 Phase 1, Phase 2 danazol
32 Antibody Conditioning Regimen For Allogeneic Donor Stem Cell Transplantation Of Patients With Fanconi Anemia Terminated NCT00590460 Phase 1, Phase 2 Fludarabine
33 Phase I Study of Amifostine in Patients With Bone Marrow Failure Related to Fanconi's Anemia Unknown status NCT00006127 Phase 1 amifostine
34 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
35 Cyclophosphamide in Treating Patients Who Are Undergoing a Donor Bone Marrow Transplant for Fanconi's Anemia Completed NCT00317876 Phase 1 cyclophosphamide;cyclosporine;methotrexate
36 Bone Marrow Cell Gene Transfer in Individuals With Fanconi Anemia Completed NCT00272857 Phase 1
37 Oxandrolone for the Treatment of Bone Marrow Aplasia in Fanconi Anemia Completed NCT00243399 Phase 1 Oxandrolone
38 Gene Therapy for the Treatment of Fanconi's Anemia Type C Completed NCT00001399 Phase 1 Transduced CD34+ Cells
39 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
40 A Clinical Trial to Evaluate the Safety of RP-L102 in Pediatric Subjects With Fanconi Anemia Subtype A Recruiting NCT03814408 Phase 1
41 Quercetin in Children With Fanconi Anemia; a Pilot Study Recruiting NCT01720147 Phase 1 Quercetin (dietary supplement)
42 Gene Therapy for Fanconi Anemia Active, not recruiting NCT01331018 Phase 1 Methylprednisolone;Plerixafor;Prednisone
43 BMT Abatacept for Non-Malignant Diseases Active, not recruiting NCT01917708 Phase 1 Abatacept
44 Use of Rft5-Dga to Deplete Alloreactive Cells for Pts With Fanconi Anemia After Haploidentical SCT Terminated NCT00586274 Phase 1 Fludarabine
45 Fanconi Syndrome Due to ARVs in HIV-Infected Persons Completed NCT00499187
46 Evaluation of Fanconi Syndrome and Cystinosis Completed NCT00004350
47 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
48 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
49 Pilot Study of Etanercept (Enbrel) in Children With Fanconi Anemia Completed NCT00965666 Not Applicable Etanercept
50 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

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:

42
Bone, Bone Marrow, Kidney, T Cells, Myeloid, Liver

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 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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