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

MCID: FNC004 MIFTS: 63	Fanconi Syndrome Categories: Metabolic diseases, Nephrological diseases, Rare diseases	Data Licensing For inquiries, contact: [email protected]
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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:

MalaCards categories:
Global: Rare diseases Metabolic diseases
Anatomical: Nephrological diseases

See all MalaCards categories (disease lists)

ICD10: ³²

Endocrine, nutritional and metabolic diseases

Metabolic disorders

Other disorders of amino-acid metabolism

Disorders of amino-acid transport

ICD11: ³³

Diseases of the genitourinary system

Diseases of the urinary system

Certain specified disorders of kidney or ureter

Renal tubular function disorders

Fanconi syndrome

Orphanet: ⁵⁸

Rare renal diseases

Inborn errors of metabolism

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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...

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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:

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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

Sources

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

Cyclophosphamide

Approved, Investigational

Phase 2, Phase 3

50-18-0, 6055-19-2

2907

Busulfan

Approved, Investigational

Phase 2, Phase 3

55-98-1

2478

Alemtuzumab

Approved, Investigational

Phase 2, Phase 3

216503-57-0

Fludarabine

Approved

Phase 2, Phase 3

75607-67-9, 21679-14-1

30751 657237

Sirolimus

Approved, Investigational

Phase 2, Phase 3

53123-88-9

5284616 6436030

Antirheumatic Agents

Phase 2, Phase 3

Iron

Approved

Phase 2

7439-89-6

29936

Deferoxamine

Approved, Investigational

Phase 2

70-51-9

2973

Deferasirox

Approved, Investigational

Phase 2

201530-41-8

214348 5493381

Mycophenolic acid

Approved, Investigational

Phase 2

24280-93-1

446541

Miconazole

Approved, Investigational, Vet_approved

Phase 2

22916-47-8

4189

Clotrimazole

Approved, Vet_approved

Phase 2

23593-75-1

2812

Prednisolone phosphate

Approved, Vet_approved

Phase 2

302-25-0

Prednisolone acetate

Approved, Vet_approved

Phase 2

52-21-1

Prednisolone

Approved, Vet_approved

Phase 2

50-24-8

4894 5755

Methylprednisolone hemisuccinate

Approved

Phase 2

2921-57-5

1875

Methylprednisolone

Approved, Vet_approved

Phase 2

83-43-2

4159 6741

Metformin

Approved

Phase 2

1115-70-4, 657-24-9

4091

Tacrolimus

Approved, Investigational

Phase 2

104987-11-3

6473866 445643

Sargramostim

Approved, Investigational

Phase 2

123774-72-1

Rituximab

Approved

Phase 1, Phase 2

174722-31-7

Olaparib

Approved

Phase 2

763113-22-0

23725625

Pembrolizumab

Approved

Phase 2

1374853-91-4

254741536

Lenograstim

Approved, Investigational

Phase 2

135968-09-1

Danazol

Approved

Phase 1, Phase 2

17230-88-5

28417

Prednisolone hemisuccinate

Experimental

Phase 2

2920-86-7

4897

Molgramostim

Investigational

Phase 2

99283-10-0

Iron Chelating Agents

Phase 2

Chelating Agents

Phase 2

Anti-Bacterial Agents

Phase 2

Anti-Infective Agents

Phase 2

Calcineurin Inhibitors

Phase 2

Cyclosporins

Phase 2

Antifungal Agents

Phase 2

Antimetabolites

Phase 2

Antitubercular Agents

Phase 2

Antibiotics, Antitubercular

Phase 2

Dermatologic Agents

Phase 2

Neuroprotective Agents

Phase 2

Antiemetics

Phase 2

Anti-Inflammatory Agents

Phase 2

glucocorticoids

Phase 2

Methylprednisolone Acetate

Phase 2

584547

Gastrointestinal Agents

Phase 2

Protective Agents

Phase 2

Hypoglycemic Agents

Phase 2

Poly(ADP-ribose) Polymerase Inhibitors

Phase 2

Liver Extracts

Phase 2

Antilymphocyte Serum

Phase 2

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

Sources

Genetic Tests for Fanconi Syndrome

Genetic tests related to Fanconi Syndrome:

#	Genetic test	Affiliating Genes
1	Fanconi Syndrome ²⁸
2	Infantile Nephropathic Cystinosis ²⁸

Sources

Anatomical Context for Fanconi Syndrome

Organs/tissues related to Fanconi Syndrome:

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

Sources

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	Marik B...Sharma A	35738466	2022
2	Glycine Amidinotransferase (GATM), Renal Fanconi Syndrome, and Kidney Failure. ⁶² ⁵	Reichold M...Kleta R	29654216	2018
3	Nephropathic cystinosis in Poland: a 40-year retrospective study. ⁶²	Sikora P...Zaniew M	35997069	2022
4	Altered Serum Uric Acid Levels in Kidney Disorders. ⁶²	Kim GH...Jun JB	36431026	2022
5	Comprehensive analysis of clinical and laboratory features of 440 published cases of Sjögren's syndrome and renal tubular acidosis. ⁶²	Sandhya P	36324184	2022
6	Analysis of tear film in cystinosis patients treated with topical viscous cysteamine hydrochloride (Cystadrops®). ⁶²	Sergio P...Luca B	35125035	2022
7	Lessons for the clinical nephrologist: lenalidomide-induced Fanconi syndrome in a patient with multiple myeloma post stem cell transplantation. ⁶²	Kaushal A...Klomjit N	36089632	2022
8	Outcome of Acquired Fanconi Syndrome Associated with Ingestion of Jerky Treats in 30 Dogs. ⁶²	Nybroe S...Kieler IN	36428419	2022
9	A Case of Fanconi Syndrome Associated with Long-term Treatment with Zoledronate. ⁶²	Katsunuma R...Uzu T	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	Li F...Wang X	36444974	2022
11	Carboplatin induced Fanconi syndrome in a post nephrectomised child with Wilms tumour. ⁶²	Mukarjee S...Rangaswamy D	35621389	2022
12	Multiple level spinal fractures due to adefovir-induced Fanconi syndrome and hypophosphatemic osteomalacia: A case report. ⁶²	He H...Zhang YJ	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	Zhou P...Mak RH	36291130	2022
14	Rickets guidance: part II-management. ⁶²	Haffner D...Schnabel D	35352187	2022
15	Zoledronic Acid-Associated Fanconi Syndrome in Patients With Cancer. ⁶²	Portales-Castillo I...Gupta S	35219759	2022
16	Clinic-pathological characteristics of rare tubulointerstitial diseases. ⁶²	Shi K...Zhu X	36411687	2022
17	A novel variant in GATM causes idiopathic renal Fanconi syndrome and predicts progression to end-stage kidney disease. ⁶²	Seaby EG...Ennis S	36148635	2022
18	Outcome of infantile nephropathic cystinosis depends on early intervention, not genotype: A multicenter sibling cohort study. ⁶²	Veys K...Levtchenko E	36117148	2022
19	[Hypophosphatemia: cause or consequence?] ⁶²	Michely D	36170139	2022
20	Primary biliary cholangitis presenting with Fanconi syndrome: an important phenotype. ⁶²	Er C...Sayer J	35973749	2022
21	Lambda light chain-induced monoclonal gammopathy of renal significance, manifesting with Fanconi Syndrome and osteomalacia. ⁶²	Gutierrez-Peredo GB...Gusmao-Flores D	35945525	2022
22	Transient Fanconi Syndrome in a Child with Acute COVID-19 Infection: Authors' Reply. ⁶²	Krishnamurthy N...Sengupta A	35704213	2022
23	Cystinosin-deficient rats recapitulate the phenotype of nephropathic cystinosis. ⁶²	Hollywood JA...Davidson AJ	35695380	2022
24	Transient Fanconi Syndrome in a Child with Acute COVID-19 Infection: Correspondence. ⁶²	Sookaromdee P...Wiwanitkit V	35587308	2022
25	Fanconi Syndrome in an Adult With Chronic Alcohol Use Disorder: A Rare Etiology. ⁶²	Safdar S...Shahid Z	36158425	2022
26	Relationship between age at initiation of cysteamine treatment, adherence with therapy, and glomerular kidney function in infantile nephropathic cystinosis. ⁶²	Nie?l C...Hohenfellner K	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	Hohenfellner K...Gahl WA	35843134	2022
28	Early switching of tenofovir disoproxil fumarate (TDF) in HIV-infected patients with TDF-induced nephrotoxicity: a prospective study. ⁶²	Patamatamkul S...Putcharoen O	36065999	2022
29	Suspected Fanconi syndrome from cadmium toxicity exacerbated by heavy kratom use. A rare occurrence. ⁶²	Sekar A...Conway KS	35323068	2022
30	Fanconi syndrome-associated interstitial lung disease. ⁶²	Papaioannou O...Tzouvelekis A	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	Barton JC...O'Connell EM	35129879	2022
32	Clinical Images: Tenofovir-Induced Fanconi Syndrome: An Uncommon Cause of Hypophosphatemic Osteomalacia. ⁶²	Sahoo RR...Wakhlu A	35132821	2022
33	Fanconi syndrome in a patient receiving pre-exposure prophylaxis for HIV infection: case report. ⁶²	Drak D...Gracey DM	35614021	2022
34	Aminoaciduria and metabolic dysregulation during diabetic ketoacidosis: Results from the diabetic kidney alarm (DKA) study. ⁶²	Melena I...Bjornstad P	35523653	2022
35	Effects of pediatric chronic kidney disease and its etiology on tissue sodium concentration: a pilot study. ⁶²	Salerno FR...Filler G	35655040	2022
36	Valproic acid as an adjuvant analgesic: adult Fanconi syndrome. ⁶²	Maybach A...Davis MP	35764376	2022
37	Fanconi syndrome in an elderly patient with membranous nephropathy during treatment with the immunosuppressant mizoribine. ⁶²	Nishikawa S...Iwano M	35749014	2022
38	Drug toxicity in the proximal tubule: new models, methods and mechanisms. ⁶²	Hall AM...Unwin RJ	34050397	2022
39	Fanconi Syndrome Secondary to Sodium Valproate Therapy: Experience and Literature Review. ⁶²	Sturla Alvarez DA...Aparicio Lopez C	35364461	2022
40	Clinical and genetic characteristics of Tunisian children with infantile nephropathic cystinosis. ⁶²	El Younsi M...M'rad R	35445972	2022
41	Urine-Derived Kidney Progenitor Cells in Cystinosis. ⁶²	Veys K...Levtchenko E	35406807	2022
42	More than tubular dysfunction: cystinosis and kidney outcomes. ⁶²	Atmis B...Onenli Mungan N	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	Kluck R...Zivicnjak M	34989402	2022
44	Newborn Screening: Review of its Impact for Cystinosis. ⁶²	Hohenfellner K...Topaloglu R	35406673	2022
45	Ifosfamide as a Cause of Fanconi Syndrome. ⁶²	Martinez D...Pelaez Garcia S	35371860	2022
46	Clinicopathologic Features of Mitochondrial Nephropathy. ⁶²	Imasawa T...J-SMiN Collaborators	35257070	2022
47	BCS1L mutations produce Fanconi syndrome with developmental disability. ⁶²	Kanako KI...Nozu K	34650211	2022
48	Cystinosis in Pediatric Renal Transplant Recipients: A Case-Control Study From Kuwait. ⁶²	Gheith O...Al-Otaibi T	35384816	2022
49	Neuromuscular conditions and the impact of cystine-depleting therapy in infantile nephropathic cystinosis: A cross-sectional analysis of 55 patients. ⁶²	Vill K...Interdisciplinary Cystinosis Group	34888877	2022
50	Simultaneous Occurrence of Nephrolithiasis, Fanconi Syndrome, and Nephro-osteopathy in a Patient on First-line Antiretroviral Therapy - A Case Report. ⁶²	Mangal V...Kaur K	35603118	2022

Sources

Genes for Fanconi Syndrome

Genes related to Fanconi Syndrome (5 elite genes):

(show top 50) (show all 59)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	CTNS	Cystinosin, Lysosomal Cystine Transporter	Protein Coding	792.08	Pathogenic ⁵ Causative germline mutation ⁵⁸ Likely pathogenic ⁵ DISEASES inferred ¹⁴ GeneCards inferred via : Publications (show sections)	35738466 20301574
2	GATM	Glycine Amidinotransferase	Protein Coding	787.93	Pathogenic ⁵ Causative germline mutation ⁵⁸ Likely pathogenic ⁵ DISEASES inferred ¹⁴ GeneCards inferred via : Publications (show sections)	29654216 35738466
3	NDUFAF6	NADH:Ubiquinone Oxidoreductase Complex Assembly Factor 6	Protein Coding	363.19	Causative germline mutation ⁵⁸ DISEASES inferred ¹⁴ GeneCards inferred via : Publications (show sections)	27466185
4	SLC34A1	Solute Carrier Family 34 Member 1	Protein Coding	356.7	Causative germline mutation (loss of function) ⁵⁸ DISEASES inferred ¹⁴	20335586
5	EHHADH	Enoyl-CoA Hydratase And 3-Hydroxyacyl CoA Dehydrogenase	Protein Coding	355.87	Causative germline mutation ⁵⁸ DISEASES inferred ¹⁴	24401050
6	CTNS-AS1	CTNS Antisense RNA 1	RNA Gene	25	Likely pathogenic ⁵	35738466
7	HNF4A	Hepatocyte Nuclear Factor 4 Alpha	Protein Coding	22.58	DISEASES inferred ¹⁴ GeneCards inferred via : Disorders Publications (show sections)
8	CLCN5	Chloride Voltage-Gated Channel 5	Protein Coding	16.18	DISEASES inferred ¹⁴ GeneCards inferred via : Publications (show sections)
9	LRP2	LDL Receptor Related Protein 2	Protein Coding	15.55	DISEASES inferred ¹⁴ GeneCards inferred via : Publications (show sections)
10	CUBN	Cubilin	Protein Coding	15.36	DISEASES inferred ¹⁴ GeneCards inferred via : Publications (show sections)
11	OCRL	OCRL Inositol Polyphosphate-5-Phosphatase	Protein Coding	15.19	DISEASES inferred ¹⁴ GeneCards inferred via : Disorders (show sections)
12	SLC2A2	Solute Carrier Family 2 Member 2	Protein Coding	14.51	DISEASES inferred ¹⁴ GeneCards inferred via : Publications (show sections)
13	SLC34A3	Solute Carrier Family 34 Member 3	Protein Coding	14.17	DISEASES inferred ¹⁴ GeneCards inferred via : Publications (show sections)
14	ALB	Albumin	Protein Coding	14.02	DISEASES inferred ¹⁴ GeneCards inferred via : Publications (show sections)
15	PTH	Parathyroid Hormone	Protein Coding	13.91	DISEASES inferred ¹⁴ GeneCards inferred via : Publications (show sections)
16	BCS1L	BCS1 Homolog, Ubiquinol-Cytochrome C Reductase Complex Chaperone	Protein Coding	13.55	DISEASES inferred ¹⁴ GeneCards inferred via : Publications (show sections)
17	UMOD	Uromodulin	Protein Coding	13.44	DISEASES inferred ¹⁴ GeneCards inferred via : Publications (show sections)
18	SLC22A12	Solute Carrier Family 22 Member 12	Protein Coding	13.23	DISEASES inferred ¹⁴ GeneCards inferred via : Publications (show sections)
19	XPR1	Xenotropic And Polytropic Retrovirus Receptor 1	Protein Coding	12.95	DISEASES inferred ¹⁴ GeneCards inferred via : Publications (show sections)
20	AVP	Arginine Vasopressin	Protein Coding	12.53	DISEASES inferred ¹⁴ GeneCards inferred via : Publications (show sections)
21	MYO5B	Myosin VB	Protein Coding	12.4	DISEASES inferred ¹⁴ GeneCards inferred via : Publications (show sections)
22	SLC7A7	Solute Carrier Family 7 Member 7	Protein Coding	12.26	DISEASES inferred ¹⁴ GeneCards inferred via : Publications (show sections)
23	ALAD	Aminolevulinate Dehydratase	Protein Coding	11.9	DISEASES inferred ¹⁴ GeneCards inferred via : Publications (show sections)
24	AMBP	Alpha-1-Microglobulin/Bikunin Precursor	Protein Coding	11.69	DISEASES inferred ¹⁴ GeneCards inferred via : Publications (show sections)
25	IGF2R	Insulin Like Growth Factor 2 Receptor	Protein Coding	11.6	DISEASES inferred ¹⁴ GeneCards inferred via : Publications (show sections)
26	CTSD	Cathepsin D	Protein Coding	10.43	DISEASES inferred ¹⁴ GeneCards inferred via : Publications (show sections)
27	NAGLU	N-Acetyl-Alpha-Glucosaminidase	Protein Coding	7.47	GeneCards inferred via : Publications (show sections)
28	FRTS1	Fanconi Renotubular Syndrome	Genetic Locus	7.3	GeneCards inferred via : Publications (show sections)
29	OGDH	Oxoglutarate Dehydrogenase	Protein Coding	7.3	GeneCards inferred via : Publications (show sections)
30	PHKA2	Phosphorylase Kinase Regulatory Subunit Alpha 2	Protein Coding	7.3	GeneCards inferred via : Publications (show sections)
31	SLC2A6	Solute Carrier Family 2 Member 6	Protein Coding	7.3	GeneCards inferred via : Publications (show sections)
32	FGF23	Fibroblast Growth Factor 23	Protein Coding	7.02	DISEASES inferred ¹⁴
33	SLC66A1	Solute Carrier Family 66 Member 1	Protein Coding	6.8	DISEASES inferred ¹⁴
34	B2M	Beta-2-Microglobulin	Protein Coding	6.73	DISEASES inferred ¹⁴
35	EMP1	Epithelial Membrane Protein 1	Protein Coding	6.71	DISEASES inferred ¹⁴
36	SLC22A6	Solute Carrier Family 22 Member 6	Protein Coding	6.56	DISEASES inferred ¹⁴
37	PHEX	Phosphate Regulating Endopeptidase X-Linked	Protein Coding	6.17	DISEASES inferred ¹⁴
38	AMN	Amnion Associated Transmembrane Protein	Protein Coding	6.07	DISEASES inferred ¹⁴
39	INPP5B	Inositol Polyphosphate-5-Phosphatase B	Protein Coding	5.95	DISEASES inferred ¹⁴
40	VPS33B	VPS33B Late Endosome And Lysosome Associated	Protein Coding	5.82	DISEASES inferred ¹⁴
41	SLC4A4	Solute Carrier Family 4 Member 4	Protein Coding	5.79	DISEASES inferred ¹⁴
42	OGA	O-GlcNAcase	Protein Coding	5.77	DISEASES inferred ¹⁴
43	ATP6V1B1	ATPase H+ Transporting V1 Subunit B1	Protein Coding	5.76	DISEASES inferred ¹⁴
44	FAH	Fumarylacetoacetate Hydrolase	Protein Coding	5.69	DISEASES inferred ¹⁴
45	SLC17A1	Solute Carrier Family 17 Member 1	Protein Coding	5.67	DISEASES inferred ¹⁴
46	SLC9A3	Solute Carrier Family 9 Member A3	Protein Coding	5.67	DISEASES inferred ¹⁴
47	ABCC4	ATP Binding Cassette Subfamily C Member 4	Protein Coding	5.62	DISEASES inferred ¹⁴
48	HNF1A	HNF1 Homeobox A	Protein Coding	5.59	DISEASES inferred ¹⁴
49	CST3	Cystatin C	Protein Coding	5.59	DISEASES inferred ¹⁴
50	CLTRN	Collectrin, Amino Acid Transport Regulator	Protein Coding	5.56	DISEASES inferred ¹⁴

Sources

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

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 inorganic cations/anions and amino acids/oligopeptides ⁶⁶ Show member pathways Amino acid transport across the plasma membrane ⁶⁶ Bicarbonate transporters ⁶⁶ Cation-coupled Chloride cotransporters ⁶⁶ Defective RHAG causes regulator type Rh-null hemolytic anemia (RHN) ⁶⁶ Defective SLC12A1 causes Bartter syndrome 1 (BS1) ⁶⁶ Defective SLC12A3 causes Gitelman syndrome (GS) ⁶⁶ Defective SLC12A6 causes agenesis of the corpus callosum, with peripheral neuropathy (ACCPN) ⁶⁶ Defective SLC16A1 causes symptomatic deficiency in lactate transport (SDLT) ⁶⁶ Defective SLC17A5 causes Salla disease (SD) and ISSD ⁶⁶ Defective SLC17A8 causes autosomal dominant deafness 25 (DFNA25) ⁶⁶ Defective SLC20A2 causes idiopathic basal ganglia calcification 1 (IBGC1) ⁶⁶ Defective SLC22A12 causes renal hypouricemia 1 (RHUC1) ⁶⁶ Defective SLC22A18 causes lung cancer (LNCR) and embryonal rhabdomyosarcoma 1 (RMSE1) ⁶⁶ Defective SLC22A5 causes systemic primary carnitine deficiency (CDSP) ⁶⁶ Defective SLC24A4 causes hypomineralized amelogenesis imperfecta (AI) ⁶⁶ Defective SLC24A5 causes oculocutaneous albinism 6 (OCA6) ⁶⁶ Defective SLC26A3 causes congenital secretory chloride diarrhea 1 (DIAR1) ⁶⁶ Defective SLC26A4 causes Pendred syndrome (PDS) ⁶⁶ Defective SLC34A1 causes hypophosphatemic nephrolithiasis/osteoporosis 1 (NPHLOP1) ⁶⁶ Defective SLC34A3 causes Hereditary hypophosphatemic rickets with hypercalciuria (HHRH) ⁶⁶ Defective SLC36A2 causes iminoglycinuria (IG) and hyperglycinuria (HG) ⁶⁶ Defective SLC4A4 causes renal tubular acidosis, proximal, with ocular abnormalities and mental retardation (pRTA-OA) ⁶⁶ Defective SLC6A5 causes hyperekplexia 3 (HKPX3) ⁶⁶ Defective SLC9A6 causes X-linked, syndromic mental retardation,, Christianson type (MRXSCH) ⁶⁶ Defective SLC9A9 causes autism 16 (AUTS16) ⁶⁶ Inositol transporters ⁶⁶ Multifunctional anion exchangers ⁶⁶ Na+/Cl- dependent neurotransmitter 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 Proton-coupled neutral amino acid transporters 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 Transport of bile salts and organic acids, metal ions and amine compounds ⁶⁶ Transport of small molecules ⁶⁶ Type II Na+/Pi cotransporters ⁶⁶ Variant SLC6A14 may confer susceptibility towards obesity ⁶⁶	12.41	SLC34A3 SLC34A1 SLC2A2 SLC22A12 CUBN CTNS
2	Disorders of transmembrane transporters ⁶⁶ Show member pathways SLC transporter disorders ⁶⁶	11.99	SLC34A3 SLC34A1 SLC2A2 SLC22A12 AVP
3	Hepatic ABC Transporters ⁶⁴ Show member pathways MODY (Maturity-Onset Diabetes of Young) ⁶⁴	11.67	SLC2A2 HNF4A CLCN5
4	Proximal tubule transport ⁷⁴	11.25	SLC34A3 SLC34A1 SLC2A2
5	FOXA2 and FOXA3 transcription factor networks ⁶¹ Show member pathways FOXA transcription factor networks ⁶¹	11.07	SLC2A2 HNF4A ALB
6	FGF23 signaling in hypophosphatemic rickets and related disorders ⁷⁴	10.47	SLC34A3 SLC34A1 PTH
7	Vitamin B12 metabolism ⁷⁴	10.32	LRP2 CUBN

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	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