FGS
MCID: FCL005
MIFTS: 57

Focal Segmental Glomerulosclerosis (FGS)

Categories: Genetic diseases, Immune diseases, Nephrological diseases, Rare diseases

Aliases & Classifications for Focal Segmental Glomerulosclerosis

MalaCards integrated aliases for Focal Segmental Glomerulosclerosis:

Name: Focal Segmental Glomerulosclerosis 12 20 36 29 6 15 17
Familial Idiopathic Steroid-Resistant Nephrotic Syndrome 20 29 6
Glomerulosclerosis, Focal Segmental 54 44
Segmental Glomerulosclerosis 20 70
Focal Glomerulosclerosis 12 70
Fsgs 12 20
Focal Segmental Glomerulosclerosis, Not Otherwise Specified 70
Familial Idiopathic Nephrotic Syndrome 20
Glomerulosclerosis, Segmental, Focal 39
Focal Sclerosis with Hyalinosis 20
Focal Glomerular Sclerosis 12
Glomerulosclerosis, Focal 20
Glomerulosclerosis Focal 54
Fgs 12

Classifications:



External Ids:

Disease Ontology 12 DOID:1312
KEGG 36 H00626
MeSH 44 D005923
NCIt 50 C37308
SNOMED-CT 67 25821008
UMLS 70 C0017668 C0333497 C4049702

Summaries for Focal Segmental Glomerulosclerosis

KEGG : 36 Focal segmental glomerulosclerosis (FSGS) is one of the most common forms of glomerular disorders leading to end stage kidney disease (ESKD). FSGS is defined as a clinicopathologic syndrome manifesting with high-grade proteinuria, associated with lesions of focal and segmental glomerular sclerosis and foot-process effacement. As the disease progresses, a more diffuse and global pattern of sclerosis evolves. FSGS accounts for 7-20 % of idiopathic nephrotic syndrome in children and 40 % in adults. There are two types of FSGS, primary (idiopathic) and secondary forms. The specific cause of primary FSGS has been ill-defined. Secondary FSGS is with recognized etiologic associations, including genetic mutations in podocyte-associated proteins, viruses, and drug toxicities. For the initial treatment of FSGS, corticosteroid and immunosuppressive therapy is recommended.

MalaCards based summary : Focal Segmental Glomerulosclerosis, also known as familial idiopathic steroid-resistant nephrotic syndrome, is related to focal segmental glomerulosclerosis 2 and focal segmental glomerulosclerosis 6. An important gene associated with Focal Segmental Glomerulosclerosis is NPHS1 (NPHS1 Adhesion Molecule, Nephrin), and among its related pathways/superpathways are Amoebiasis and Primary Focal Segmental Glomerulosclerosis FSGS. The drugs Prednisone and Insulin lispro have been mentioned in the context of this disorder. Affiliated tissues include Kidney, endothelial and bone marrow, and related phenotypes are Decreased viability and Decreased viability

GARD : 20 Focal segmental glomerulosclerosis (FSGS) is a type of kidney disorder. It is characterized by scar tissue that forms in some of the glomeruli in the kidney. FSGS may cause non-specific signs and symptoms, including protein in the urine, elevated levels of creatinine, and swelling. In many cases the cause of FSGS can not be determined. Some cases are thought to be associated with congenital kidney defects, urine backing up into the kidneys, obesity, obstructive sleep apnea, sickle cell anemia, or viruses (e.g., HIV ). The goal of treatment is to control symptoms and prevent chronic kidney failure. Even with treatment, many people with FSGS progress to kidney failure within 5 to 20 years.

Wikipedia : 73 Focal segmental glomerulosclerosis (FSGS), also known as “focal glomerular sclerosis” or “focal nodular... more...

Related Diseases for Focal Segmental Glomerulosclerosis

Diseases in the Focal Segmental Glomerulosclerosis family:

Focal Segmental Glomerulosclerosis 10 Focal Segmental Glomerulosclerosis 1
Focal Segmental Glomerulosclerosis 2 Focal Segmental Glomerulosclerosis 3
Focal Segmental Glomerulosclerosis 4 Focal Segmental Glomerulosclerosis 5
Focal Segmental Glomerulosclerosis 6 Focal Segmental Glomerulosclerosis 7
Focal Segmental Glomerulosclerosis 8 Focal Segmental Glomerulosclerosis 9

Diseases related to Focal Segmental Glomerulosclerosis via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 525)
# Related Disease Score Top Affiliating Genes
1 focal segmental glomerulosclerosis 2 33.7 TRPC6 NPHS2 NPHS1 LAMB2 INF2 CRB2
2 focal segmental glomerulosclerosis 6 33.7 MYO1E LAMB2 INF2 CRB2 COQ8B CD2AP
3 focal segmental glomerulosclerosis 5 33.7 LAMB2 INF2 COQ8B CD2AP APOL1 ACTN4
4 focal segmental glomerulosclerosis 7 33.7 PAX2 LAMB2 INF2 CRB2 COQ8B
5 focal segmental glomerulosclerosis 8 33.6 LAMB2 INF2 CRB2 COQ8B ANLN
6 focal segmental glomerulosclerosis 9 33.6 LAMB2 INF2 CRB2 COQ8B ANLN
7 focal segmental glomerulosclerosis 1 33.5 TRPC6 SMARCAL1 PTPRO PLCE1 NUP93 NPHS2
8 nephrotic syndrome, type 1 33.1 WT1 NPHS2 NPHS1 CD2AP ACTN4
9 nephrotic syndrome, type 2 33.0 PLCE1 NPHS2 NPHS1 INF2 CD2AP ACTN4
10 nephrotic syndrome 32.9 WT1 TRPC6 SYNPO SMARCAL1 PTPRO PLCE1
11 proteinuria, chronic benign 32.8 SYNPO NPHS2 NPHS1 INF2 COL4A5 CD2AP
12 schimke immunoosseous dysplasia 32.6 SMARCAL1 NUP93 NPHS2
13 frasier syndrome 32.6 WT1 TRPC6 SMARCAL1 PLCE1 PAX2 NUP93
14 end stage renal disease 32.4 TRPC6 PAX2 NPHS2 NPHS1 INF2 COL4A5
15 nephrotic syndrome, type 10 32.4 NPHS2 NPHS1
16 glomerulonephritis 32.3 NPHS2 NPHS1 COL4A5 APOL1
17 glomerular disease 32.1 CD2AP ACTN4
18 membranous nephropathy 32.1 WT1 TRPC6 NPHS2 NPHS1 CD2AP
19 kidney disease 32.0 WT1 TRPC6 PAX2 NPHS2 NPHS1 INF2
20 iga glomerulonephritis 31.8 NPHS2 NPHS1 CD2AP
21 chronic kidney disease 31.7 WT1 NPHS2 NPHS1 COL4A5 APOL1 ACTN4
22 alport syndrome 31.5 TRPC6 SYNPO PTPRO NPHS2 NPHS1 MYO1E
23 genetic steroid-resistant nephrotic syndrome 31.5 WT1 TRPC6 PTPRO PLCE1 PAX2 NUP93
24 crescentic glomerulonephritis 31.4 WT1 SYNPO PTPRO NPHS2 ACTN4
25 familial nephrotic syndrome 31.3 WT1 TRPC6 SYNPO SMARCAL1 PTPRO PLCE1
26 lipoid nephrosis 31.3 TRPC6 SYNPO NPHS2 NPHS1 CD2AP APOL1
27 nephrosclerosis 31.3 SYNPO NPHS2 NPHS1
28 wilms tumor 1 31.2 WT1 SYNPO PTPRO PAX2 NPHS2 NPHS1
29 idiopathic steroid-resistant nephrotic syndrome 31.1 WT1 SMARCAL1 NPHS2 NPHS1
30 diffuse mesangial sclerosis 31.1 WT1 PLCE1 PAX2 NPHS2 NPHS1 LAMB2
31 wilms tumor, aniridia, genitourinary anomalies, and mental retardation syndrome 31.0 WT1 NPHS2 NPHS1 ACTN4
32 denys-drash syndrome 31.0 WT1 TRPC6 SYNPO PLCE1 PAX2 NPHS2
33 oligomeganephronia 30.8 PAX2 NPHS2 NPHS1 INF2 COQ8B CD2AP
34 nail-patella syndrome 30.8 PLCE1 PAX2 NPHS2 NPHS1 INF2 CD2AP
35 pierson syndrome 30.8 WT1 PLCE1 NPHS2 NPHS1 LAMB2 INF2
36 hypoparathyroidism, sensorineural deafness, and renal disease 30.7 NPHS2 NPHS1 LAMB2 ACTN4
37 galloway-mowat syndrome 30.7 SYNPO SMARCAL1 PTPRO PLCE1 NUP93 NPHS2
38 cakut 30.6 WT1 PAX2 NPHS1 APOL1
39 kidney hypertrophy 30.4 SYNPO NPHS2 NPHS1
40 hypertension, essential 30.4 TRPC6 NPHS2 NPHS1 INF2 COL4A5 APOL1
41 focal segmental glomerulosclerosis 3 12.0
42 focal segmental glomerulosclerosis 4 11.9
43 focal segmental glomerulosclerosis 10 11.8
44 opitz-kaveggia syndrome 11.6
45 coenzyme q10 deficiency, primary, 6 11.5
46 nephrotic syndrome, type 12 11.5
47 nephrotic syndrome, type 13 11.5
48 c1q nephropathy 11.4
49 nephrotic syndrome, type 14 11.4
50 nephrotic syndrome, type 4 11.4

Graphical network of the top 20 diseases related to Focal Segmental Glomerulosclerosis:



Diseases related to Focal Segmental Glomerulosclerosis

Symptoms & Phenotypes for Focal Segmental Glomerulosclerosis

GenomeRNAi Phenotypes related to Focal Segmental Glomerulosclerosis according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00106-A-0 9.68 NUP93
2 Decreased viability GR00240-S-1 9.68 ANLN
3 Decreased viability GR00249-S 9.68 ANLN APOL1 COL4A5 MYO1E NPHS2 SMARCAL1
4 Decreased viability GR00301-A 9.68 COQ8B
5 Decreased viability GR00381-A-1 9.68 ANLN INF2 SYNPO WT1
6 Decreased viability GR00386-A-1 9.68 ANLN INF2 LAMB2 MYO1E NUP93
7 Decreased viability GR00402-S-2 9.68 ACTN4 ANLN CD2AP INF2 NUP93

MGI Mouse Phenotypes related to Focal Segmental Glomerulosclerosis:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.73 ACTN4 CD2AP COL4A5 CRB2 INF2 MYO1E
2 renal/urinary system MP:0005367 9.44 ACTN4 CD2AP COL4A5 COQ8B LAMB2 MYO1E

Drugs & Therapeutics for Focal Segmental Glomerulosclerosis

Drugs for Focal Segmental Glomerulosclerosis (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 124)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Prednisone Approved, Vet_approved Phase 4 53-03-2 5865
2
Insulin lispro Approved Phase 4 133107-64-9
3
Zinc Approved, Investigational Phase 4 7440-66-6 32051
4
Insulin glargine Approved Phase 4 160337-95-1
5
Angiotensin II Approved, Investigational Phase 4 68521-88-0, 4474-91-3, 11128-99-7 172198
6
Valsartan Approved, Investigational Phase 4 137862-53-4 60846
7 glucocorticoids Phase 4
8 Pharmaceutical Solutions Phase 4
9 2-(3-(4-ethoxybenzyl)-4-chlorophenyl)-6-hydroxymethyltetrahydro-2H-pyran-3,4,... Phase 4
10 Sodium-Glucose Transporter 2 Inhibitors Phase 4
11 Hypoglycemic Agents Phase 4
12 Isophane Insulin, Human Phase 4
13 Isophane insulin, beef Phase 4
14 Insulin, Globin Zinc Phase 4
15 insulin Phase 4
16 Insulin, Isophane Phase 4
17 Hormones Phase 4
18 Hormone Antagonists Phase 4
19 Adrenocorticotropic Hormone Phase 4
20 Melanocyte-Stimulating Hormones Phase 4
21 beta-Endorphin Phase 4
22 Neurotransmitter Agents Phase 4
23 Endorphins Phase 4
24 Angiotensin II Type 1 Receptor Blockers Phase 4
25 Angiotensin Receptor Antagonists Phase 4
26 Giapreza Phase 4
27 Angiotensinogen Phase 4
28 Antihypertensive Agents Phase 4
29
Valproic acid Approved, Investigational Phase 2, Phase 3 99-66-1 3121
30
Miconazole Approved, Investigational, Vet_approved Phase 3 22916-47-8 4189
31
Clotrimazole Approved, Vet_approved Phase 3 23593-75-1 2812
32
Chlorambucil Approved Phase 3 305-03-3 2708
33
Dexamethasone Approved, Investigational, Vet_approved Phase 3 50-02-2 5743
34
Dexamethasone acetate Approved, Investigational, Vet_approved Phase 3 1177-87-3
35
Methylprednisolone Approved, Vet_approved Phase 3 83-43-2 6741
36
Methylprednisolone hemisuccinate Approved Phase 3 2921-57-5
37
Prednisolone Approved, Vet_approved Phase 3 50-24-8 5755
38
Prednisolone acetate Approved, Vet_approved Phase 3 52-21-1
39
Prednisolone phosphate Approved, Vet_approved Phase 3 302-25-0
40
Irbesartan Approved, Investigational Phase 3 138402-11-6 3749
41
rituximab Approved Phase 3 174722-31-7 10201696
42
Prednisolone hemisuccinate Experimental Phase 3 2920-86-7
43 Immunosuppressive Agents Phase 2, Phase 3
44 Psychotropic Drugs Phase 2, Phase 3
45 Anticonvulsants Phase 2, Phase 3
46 Antifungal Agents Phase 3
47 Alkylating Agents Phase 3
48 Gastrointestinal Agents Phase 3
49 Antiemetics Phase 3
50 Neuroprotective Agents Phase 3

Interventional clinical trials:

(show top 50) (show all 73)
# Name Status NCT ID Phase Drugs
1 Idiopathic Focal Segmental Glomerulosclerosis (FSGS) and Treatment With ACTH Completed NCT01155141 Phase 4 H.P. Acthar Gel
2 Treatment of Proteinuria Due to Treatment Resistant or Treatment Intolerant Idiopathic Focal Segmental Glomerulosclerosis: A Prospective Study of Acthar (PODOCYTE) Completed NCT02633046 Phase 4 Acthar Gel
3 Treating to Reduce Albuminuria and Normalize Hemodynamic Function in Focal ScLerosis With dApagliflozin Trial Effects: "The TRANSLATE Study" Completed NCT02585804 Phase 4 Dapagliflozin
4 The Management of Glucocorticoid-Induced Hyperglycemia in Hospitalized Patients Completed NCT01810952 Phase 4 Glargine insulin;Lispro insulin;NPH Insulin
5 Acthar for Treatment of Post-transplant FSGS Not yet recruiting NCT02399462 Phase 4 Acthar
6 Aldosterone Breakthrough During Diovan (Valsartan), Tekturna (Aliskiren), and Combination (Valsartan+Aliskiren) Anti-hypertensive Therapy in Patients With Proteinuric Kidney Disease Terminated NCT01129557 Phase 4 Aliskiren;Valsartan
7 A Prospective Interventional Pilot Study on the Use of Valproic Acid for Treatment of Idiopathic Nephrotic Syndrome Unknown status NCT02896270 Phase 2, Phase 3 Valproic Acid
8 A Prospective Randomized Open-label Study to Compare Mycophenolate Mofetil and Corticosteroid With Conventional Immunosuppressive Treatment on Proteinuria in Idiopathic Membranous Nephropathy (MN) and Focal Segmental Glomerulosclerosis (FSGS) Completed NCT00404833 Phase 3 prednisolone and mycophenolate mofetil;prednisolone and chlorambucil
9 Focal Segmental Glomerulosclerosis Clinical Trial Completed NCT00135811 Phase 3 Cyclosporin;MMF and Dexamethasone
10 A Prospective, Sequential Study to Assess the Efficacy of Rituximab Therapy in Maintaining Remission of Nephrotic Syndrome After Steroid and Immunosuppressive Therapy Withdrawal in Patients With Steroid-dependant or Multirelapsing Minimal Change Disease or Focal Segmental Glomerulosclerosis (NEMO Study) Completed NCT00981838 Phase 3 Rituximab
11 Efficacy of Rituximab in Comparison to Continued Corticosteroid Treatment in Idiopathic Nephrotic Syndrome Unresponsive to 8 Weeks of High Dose Prednisone Recruiting NCT03298698 Phase 3 Rituximab;Prednisone
12 The Use of Acthar (ACTH) in Patients With Focal Segmental Glomerulosclerosis (FSGS) Who Have Developed Chronic Kidney Disease Stage V (CKD) or End Stage Renal Disease (ESRD) and Are Undergoing a Renal Transplant Recruiting NCT02683889 Phase 3 Acthar
13 A Randomized, Multicenter, Double-blind, Parallel, Active-control Study of the Effects of Sparsentan, a Dual Endothelin Receptor and Angiotensin Receptor Blocker, on Renal Outcomes in Patients With Primary FSGS Active, not recruiting NCT03493685 Phase 3 sparsentan;Irbesartan
14 The Use of Rituximab to Prevent Recurrence of Proteinuria in Patients Receiving Kidney Transplant for FSGS Terminated NCT01164098 Phase 3 Rituximab
15 Sirolimus for Focal Segmental Glomerulosclerosis Completed NCT00040508 Phase 2 Sirolimus
16 Anti-CD20, Rituximab, for the Treatment of Recurrent or Primary Resistant Focal Segmental Glomerulosclerosis (FSGS) Completed NCT00550342 Phase 2 rituximab
17 A Pilot Study to Assess the Efficacy of Rituximab Therapy in Patients With Treatment Resistant Idiopathic Focal Segmental Glomerulosclerosis (FSGS): Integrating an Assessment of the Relevance of suPAR and Activation of Podocyte β3 Integrin Completed NCT01573533 Phase 2
18 A Phase 2 Multicenter, Open Label, Randomized Study of Two Titration Regimens of Oral CXA-10 in Subjects With Primary Focal Segmental Glomerulosclerosis (FSGS) Completed NCT03422510 Phase 2 CXA-10
19 Study of Losmapimod to Reduce Proteinuria in Idiopathic Focal Segmental Glomerulosclerosis (FSGS) Completed NCT02000440 Phase 2 Losmapimod
20 A Randomized, Double-Blind, Placebo-Controlled Dose-Ranging Study to Evaluate the Safety and Efficacy of CCX140-B in Subjects With Focal Segmental Glomerulosclerosis (FSGS) Completed NCT03536754 Phase 2 CCX140-B
21 Novel Therapies for Resistant Focal Segmental Glomerulosclerosis Completed NCT00814255 Phase 2 Adalimumab;Lisinopril, losartan, and atorvastatin;galactose
22 A Phase 2, Multicenter, Double-Blind, Parallel Dosing, Randomized Study of Fresolimumab or Placebo in Patients With Steroid-Resistant Primary Focal Segmental Glomerulosclerosis Completed NCT01665391 Phase 2 fresolimumab;fresolimumab;Placebo
23 Permeability Factor in Focal Segmental Glomerulosclerosis Completed NCT00007475 Phase 1, Phase 2 Cyclophosphamide
24 A Phase II Randomized, Placebo-Controlled, Double-Blind, Parallel Arms, Pilot Study to Evaluate the Efficacy and Safety of Intravenous Abatacept in Treatment Resistant Nephrotic Syndrome (Focal Segmental Glomerulosclerosis/ Minimal Change Disease) Completed NCT02592798 Phase 2 Abatacept
25 Pulse Dexamethasone in Focal Segmental Glomerulosclerosis Completed NCT00004990 Phase 2 Dexamethasone
26 Pirfenidone in Focal Segmental Glomerulosclerosis:Phase II Study Completed NCT00001959 Phase 2 Pirfenidone
27 A Phase 2 Trial of the Safety and Efficacy of Bardoxolone Methyl in Patients With Rare Chronic Kidney Diseases Completed NCT03366337 Phase 2 Bardoxolone methyl capsules
28 Retinoids for Podocyte Disease Completed NCT00098020 Phase 2 Isotretinoin
29 A PHASE 2, 12 WEEK, ADAPTIVE, OPEN LABEL, SEQUENTIAL COHORT TRIAL TO EVALUATE THE EFFICACY, SAFETY, TOLERABILITY AND PHARMACOKINETICS OF PF 06730512 FOLLOWING MULTIPLE DOSES IN ADULT SUBJECTS WITH FOCAL SEGMENTAL GLOMERULOSCLEROSIS (FSGS) Recruiting NCT03448692 Phase 2 PF-06730512
30 An Open Label, Intra-Subject Dose Escalation Study of CCX140-B in Subjects With Primary Focal Segmental Glomerulosclerosis (FSGS) and Nephrotic Syndrome Recruiting NCT03703908 Phase 2 CCX140-B
31 PRI-VENT FSGS: Preemptive Rituximab to Prevent Recurrent Focal Segmental Glomerulosclerosis Post-Transplant Recruiting NCT03763643 Phase 1, Phase 2 Rituximab;Placebo
32 Precision Medicine Proof of Concept for Tumor Necrosis Factor Inhibition in Focal Segmental Glomerulosclerosis and Treatment Resistant Minimal Change Disease Recruiting NCT04009668 Phase 2 adalimumab
33 A Phase 2a, Open-label, Single-arm, 2-Part Study to Evaluate the Efficacy, Safety, and Pharmacokinetics of VX-147 in Adults With APOL1-mediated Focal Segmental Glomerulosclerosis Recruiting NCT04340362 Phase 2 VX-147
34 A Phase 2a Multiple Ascending, Placebo-Controlled Study to Evaluate the Safety, Tolerability, Pharmacokinetics, and Pharmacodynamics of GFB-887, a TRPC5 Channel Inhibitor, in Patients With Diabetic Nephropathy, Focal Segmental Glomerulosclerosis, and Treatment-Resistant Minimal Change Disease Recruiting NCT04387448 Phase 2 GFB-887;Placebo
35 A Phase 2, Open-Label, Basket Study of Atrasentan in Patients With Proteinuric Glomerular Diseases Recruiting NCT04573920 Phase 2 Atrasentan
36 A Phase 2a, Double-Blind, Randomized, Placebo-Controlled, Crossover Study Evaluating the Safety and Efficacy of Propagermanium in Patients With Primary Focal Segmental Glomerulosclerosis (FSGS) Who Are Receiving Irbesartan Active, not recruiting NCT03649152 Phase 2 Propagermanium;Placebo
37 Efficacy and Safety of RE-021, a Dual Endothelin Receptor and Angiotensin Receptor Blocker, in Patients With Focal Segmental Glomerulosclerosis (FSGS): a Randomized, Double-Blind, Active-Control, Dose-Escalation Study Active, not recruiting NCT01613118 Phase 2 RE-021 (Sparsentan);Irbesartan
38 A Phase 2a, Randomized, Open-Label, Active Control, Multi-Center Study to Assess the Efficacy and Safety of Bleselumab in Preventing the Recurrence of Focal Segmental Glomerulosclerosis in de Novo Kidney Transplant Recipients Active, not recruiting NCT02921789 Phase 2 Bleselumab;Basiliximab;Mycophenolate Mofetil (MMF);Tacrolimus Capsules;Methylprednisone;Prednisone
39 An Open-Label Dose-Exploration Cohort Study Evaluating the Efficacy and Safety of Voclosporin in Achieving Complete or Partial Remission of Proteinuria in Subjects With Focal Segmental Glomerulosclerosis Terminated NCT03598036 Phase 2 Voclosporin
40 Allogenic Adipose Derived Mesenchymal Stromal Cells Transplantation to Improve Kidney Function in Refractory Primary Nephrotic Syndrome (Focal Segmental Glomerulosclerosis,FSGS) ,a Phase I Clinical Trial Unknown status NCT02382874 Phase 1
41 Phase 1 Study of TLI Pretransplant to Prevent Recurrence of FSGS in the Graft Completed NCT00353535 Phase 1
42 A First-In-Human, Phase 1, Placebo-Controlled Study to Evaluate the Safety, Tolerability, and Pharmacokinetics of GFB-887, a TRPC5 Channel Inhibitor, in Healthy Subjects Completed NCT03970122 Phase 1 GFB-887;Placebo
43 A Phase I, Multicentre, Open-label, Dose-escalating Study of Single Doses of GC1008 in Patients With Treatment Resistant Idiopathic Focal Segmental Glomerulosclerosis (FSGS) Completed NCT00464321 Phase 1
44 Safety Study of the Endovascular Infusion of Bone Marrow Derived Mononuclear Cells in Patients With Focal Segmental Glomerulosclerosis Completed NCT02693366 Phase 1
45 Novel Therapies for Resistant FSGS Completed NCT00193648 Phase 1 Rosiglitazone (Avandia);Adalimumab (Humira)
46 A Phase I, Open-Label Study of the Safety and Pharmacokinetics of FG-3019 in Adolescent and Adult Subjects With Steroid-Resistant Focal Segmental Glomerulosclerosis Terminated NCT00782561 Phase 1 FG-3019
47 Effect of Galactose on Permeability Factor in Patients With Focal Segmental Glomerulosclerosis (FSGS) Terminated NCT00816478 Phase 1 Galactose
48 Effect of Galactose on Permeability Factor in Patients With Focal Segmental Glomerulosclerosis (FSGS)and Chronic Kidney Disease Stage 5 Withdrawn NCT00816504 Phase 1 Galactose
49 Therapeutic Effect of Low-dose Prednisone Combined With MMF and FK506 in Focal Segmental Glomerulosclerosis Unknown status NCT00956059 prednisone, FK506, MMF;prednisone
50 A Prospective Controlled Follow-up of Serum Soluble Urokinase Receptor in the Cyclosporine A-treated Patients With Steroid-dependent and Steroid-resistant Focal Segmental Glomerulosclerosis Unknown status NCT01468493

Search NIH Clinical Center for Focal Segmental Glomerulosclerosis

Inferred drug relations via UMLS 70 / NDF-RT 51 :


Cyclosporine

Cochrane evidence based reviews: glomerulosclerosis, focal segmental

Genetic Tests for Focal Segmental Glomerulosclerosis

Genetic tests related to Focal Segmental Glomerulosclerosis:

# Genetic test Affiliating Genes
1 Focal Segmental Glomerulosclerosis 29
2 Familial Idiopathic Steroid-Resistant Nephrotic Syndrome 29

Anatomical Context for Focal Segmental Glomerulosclerosis

MalaCards organs/tissues related to Focal Segmental Glomerulosclerosis:

40
Kidney, Endothelial, Bone Marrow, Myeloid, Bone, Pituitary, Heart
LifeMap Discovery
Data from LifeMap, the Embryonic Development and Stem Cells Database

Cells/anatomical compartments in embryo or adult related to Focal Segmental Glomerulosclerosis:
# Tissue Anatomical CompartmentCell Relevance
1 Kidney Podocyte Layer Podocytes Affected by disease, potential therapeutic candidate

Publications for Focal Segmental Glomerulosclerosis

Articles related to Focal Segmental Glomerulosclerosis:

(show top 50) (show all 4058)
# Title Authors PMID Year
1
Nephrin mutations cause childhood- and adult-onset focal segmental glomerulosclerosis. 54 6 61
19812541 2009
2
Recurrence of proteinuria 10 years post-transplant in NPHS2-associated focal segmental glomerulosclerosis after conversion from cyclosporin A to sirolimus. 61 6
16721582 2006
3
Novel mutations in NPHS2 detected in both familial and sporadic steroid-resistant nephrotic syndrome. 61 6
11805166 2002
4
Whole-genome sequencing of patients with rare diseases in a national health system. 6
32581362 2020
5
Clinico-pathological correlations of congenital and infantile nephrotic syndrome over twenty years. 6
24902943 2014
6
Two distinct WT1 mutations identified in patients and relatives with isolated nephrotic proteinuria. 6
24161391 2013
7
Genetic screening in adolescents with steroid-resistant nephrotic syndrome. 6
23515051 2013
8
Nineteen novel NPHS1 mutations in a worldwide cohort of patients with congenital nephrotic syndrome (CNS). 6
20172850 2010
9
WT1 gene mutations in Chinese children with early onset nephrotic syndrome. 6
20442690 2010
10
Single gene disorders. 6
19484379 2008
11
Nephrin mutations can cause childhood-onset steroid-resistant nephrotic syndrome. 6
18614772 2008
12
Nephrin gene (NPHS1) in patients with minimal change nephrotic syndrome (MCNS). 6
15086927 2004
13
Frasier syndrome is caused by defective alternative splicing of WT1 leading to an altered ratio of WT1 +/-KTS splice isoforms. 6
9499425 1998
14
Donor splice-site mutations in WT1 are responsible for Frasier syndrome. 6
9398852 1997
15
Germline intronic and exonic mutations in the Wilms' tumour gene (WT1) affecting urogenital development. 6
1302008 1992
16
A novel WT1 gene mutation in a three-generation family with progressive isolated focal segmental glomerulosclerosis. 54 61
20150449 2010
17
Functional analysis of promoter mutations in the ACTN4 and SYNPO genes in focal segmental glomerulosclerosis. 54 61
19666657 2010
18
Phosphorylation of alpha-actinin 4 upon epidermal growth factor exposure regulates its interaction with actin. 54 61
19920151 2010
19
Very low-molecular-mass fragments of albumin in the plasma of patients with focal segmental glomerulosclerosis. 54 61
19781833 2009
20
TRPC6 mutational analysis in a large cohort of patients with focal segmental glomerulosclerosis. 54 61
19458060 2009
21
Glomerular epithelial cell injury associated with mutant alpha-actinin-4. 54 61
19640905 2009
22
Membranoproliferative glomerulonephritis associated with a mutation in Wilms' tumour suppressor gene 1. 54 61
19205749 2009
23
CD2AP mutations are associated with sporadic nephrotic syndrome and focal segmental glomerulosclerosis (FSGS). 54 61
19131354 2009
24
Identification and functional analysis of a novel TRPC6 mutation associated with late onset familial focal segmental glomerulosclerosis in Chinese patients. 61 54
19124028 2009
25
Modulating alpha-actinin-4 dynamics in podocytes. 61 54
19206166 2009
26
TRPC6 mutations associated with focal segmental glomerulosclerosis cause constitutive activation of NFAT-dependent transcription. 61 54
19129465 2009
27
The transcriptional regulation of podocin (NPHS2) by Lmx1b and a promoter single nucleotide polymorphism. 61 54
19562271 2009
28
ACTN4 gene mutations and single nucleotide polymorphisms in idiopathic focal segmental glomerulosclerosis. 61 54
19142020 2009
29
[Mutations in NPHS2 in familial steroid-resistant nephrotic syndrome in Southern Chinese Han ethnic group]. 54 61
19099831 2008
30
Molecular pathology of nephrotic syndrome in childhood: a contemporary approach to diagnosis. 61 54
18462046 2008
31
Primer: strategies for identifying genes involved in renal disease. 54 61
18364721 2008
32
Familial focal segmental glomerulosclerosis associated with an ACTN4 mutation and paternal germline mosaicism. 54 61
18436095 2008
33
Clinical features and mutational survey of NPHS2 (podocin) in Japanese children with focal segmental glomerulosclerosis who underwent renal transplantation. 54 61
18208440 2008
34
Crystal structure of the actin-binding domain of alpha-actinin-4 Lys255Glu mutant implicated in focal segmental glomerulosclerosis. 54 61
18164029 2008
35
Proteomics of plasma and urine in primary nephrotic syndrome in children. 54 61
18401158 2008
36
NPHS2 variation in sporadic focal segmental glomerulosclerosis. 54 61
17942957 2007
37
Focal segmental glomerulosclerosis in a patient homozygous for a CD2AP mutation. 61 54
17713465 2007
38
Renin-angiotensin axis blockade reduces proteinuria in presymptomatic patients with familial FSGS. 61 54
17530296 2007
39
WT1 intron 9 splice acceptor site mutation in a 46,XY male with focal segmental glomerulosclerosis. 61 54
17061122 2007
40
Recurrent nephrotic syndrome in homozygous truncating NPHS2 mutation is not due to anti-podocin antibodies. 61 54
17109732 2007
41
Recessive NPHS2 (Podocin) mutations are rare in adult-onset idiopathic focal segmental glomerulosclerosis. 54 61
17699384 2007
42
[Synaptopodin immunoexpression in steroid-responsive and steroid-resistant minimal change disease and focal segmental glomerulosclerosis]. 61 54
18336100 2007
43
Vitamin E in renal therapeutic regiments. 61 54
17186590 2006
44
Angiotensin converting enzyme gene polymorphisms do not predict the course of idiopathic nephrotic syndrome in Swiss children. 54 61
17199794 2006
45
Cellular focal segmental glomerulosclerosis: Clinical and pathologic features. 54 61
17021605 2006
46
Ezrin--a useful factor in the prognosis of nephrotic syndrome in children: an immunohistochemical approach. 61 54
16522749 2006
47
Posttransplant recurrence of proteinuria in a case of focal segmental glomerulosclerosis associated with WT1 mutation. 54 61
16780544 2006
48
Expression of synaptopodin and GLEPP1 as markers of steroid responsiveness in primary focal segmental glomerulosclerosis. 61 54
16564554 2006
49
NPHS2 mutations in adult patients with primary focal segmental glomerulosclerosis. 54 61
16874699 2006
50
Bigenic mouse models of focal segmental glomerulosclerosis involving pairwise interaction of CD2AP, Fyn, and synaptopodin. 54 61
16628251 2006

Variations for Focal Segmental Glomerulosclerosis

ClinVar genetic disease variations for Focal Segmental Glomerulosclerosis:

6 (show top 50) (show all 64)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 WT1 NM_024426.6(WT1):c.1447+4C>T SNV Pathogenic 3500 rs587776577 GRCh37: 11:32413514-32413514
GRCh38: 11:32391968-32391968
2 COL4A5 NM_033380.3(COL4A5):c.1815del (p.Asn607fs) Deletion Pathogenic 844422 GRCh37: X:107841967-107841967
GRCh38: X:108598737-108598737
3 APOL1 NM_003661.4(APOL1):c.1024A>G (p.Ser342Gly) SNV Pathogenic 277678 rs73885319 GRCh37: 22:36661906-36661906
GRCh38: 22:36265860-36265860
4 APOL1 NM_003661.4(APOL1):c.1024A>G (p.Ser342Gly) SNV Pathogenic 277678 rs73885319 GRCh37: 22:36661906-36661906
GRCh38: 22:36265860-36265860
5 APOL1 NM_003661.4(APOL1):c.1024A>G (p.Ser342Gly) SNV Pathogenic 277678 rs73885319 GRCh37: 22:36661906-36661906
GRCh38: 22:36265860-36265860
6 APOL1 NM_003661.4(APOL1):c.1152T>G (p.Ile384Met) SNV Pathogenic 127198 rs60910145 GRCh37: 22:36662034-36662034
GRCh38: 22:36265988-36265988
7 APOL1 NM_003661.4(APOL1):c.1152T>G (p.Ile384Met) SNV Pathogenic 127198 rs60910145 GRCh37: 22:36662034-36662034
GRCh38: 22:36265988-36265988
8 APOL1 NM_003661.4(APOL1):c.1152T>G (p.Ile384Met) SNV Pathogenic 127198 rs60910145 GRCh37: 22:36662034-36662034
GRCh38: 22:36265988-36265988
9 SMARCAL1 NM_001127207.2(SMARCAL1):c.723C>A (p.Cys241Ter) SNV Pathogenic 374208 rs748106387 GRCh37: 2:217280150-217280150
GRCh38: 2:216415427-216415427
10 NPHS2 NM_014625.4(NPHS2):c.535-1G>T SNV Pathogenic 504890 rs1291398331 GRCh37: 1:179526366-179526366
GRCh38: 1:179557231-179557231
11 APOL1 NM_003661.4(APOL1):c.1164_1169del (p.Asn388_Tyr389del) Deletion Pathogenic 6081 rs71785313 GRCh37: 22:36662042-36662047
GRCh38: 22:36265996-36266001
12 WT1 NM_024426.6(WT1):c.1447+5G>A SNV Pathogenic 3493 rs587776576 GRCh37: 11:32413513-32413513
GRCh38: 11:32391967-32391967
13 SMARCAL1 NM_001127207.2(SMARCAL1):c.2542G>T (p.Glu848Ter) SNV Pathogenic 4171 rs119473033 GRCh37: 2:217342939-217342939
GRCh38: 2:216478216-216478216
14 NPHS1 NM_004646.3(NPHS1):c.2928G>T (p.Arg976Ser) SNV Pathogenic 188761 rs138656762 GRCh37: 19:36330320-36330320
GRCh38: 19:35839418-35839418
15 INF2 NM_022489.4(INF2):c.658G>A (p.Glu220Lys) SNV Likely pathogenic 523533 rs530391015 GRCh37: 14:105169782-105169782
GRCh38: 14:104703445-104703445
16 TRPC6 NM_004621.6(TRPC6):c.2668G>A (p.Asp890Asn) SNV Likely pathogenic 812903 rs1591517929 GRCh37: 11:101323814-101323814
GRCh38: 11:101453083-101453083
17 NUP93 NM_014669.5(NUP93):c.1909A>G (p.Lys637Glu) SNV Likely pathogenic 812904 rs1596861969 GRCh37: 16:56871529-56871529
GRCh38: 16:56837617-56837617
18 WT1 NM_024426.6(WT1):c.1265G>T (p.Gly422Val) SNV Likely pathogenic 222890 rs869025561 GRCh37: 11:32414301-32414301
GRCh38: 11:32392755-32392755
19 NPHS1 NM_004646.3(NPHS1):c.2398C>T (p.Arg800Cys) SNV Likely pathogenic 222761 rs114896482 GRCh37: 19:36333389-36333389
GRCh38: 19:35842487-35842487
20 CD2AP NM_012120.3(CD2AP):c.-4dup Duplication Uncertain significance 357163 rs886061517 GRCh37: 6:47445972-47445973
GRCh38: 6:47478236-47478237
21 TRPC6 NM_004621.6(TRPC6):c.-319del Deletion Uncertain significance 301922 rs886047541 GRCh37: 11:101454553-101454553
GRCh38: 11:101583822-101583822
22 CD2AP NM_012120.3(CD2AP):c.*492_*497del Deletion Uncertain significance 357194 rs886061529 GRCh37: 6:47592454-47592459
GRCh38: 6:47624718-47624723
23 CD2AP NM_012120.3(CD2AP):c.*494_*503del Deletion Uncertain significance 357197 rs777904165 GRCh37: 6:47592456-47592465
GRCh38: 6:47624720-47624729
24 NXF5 NM_032946.2(NXF5):c.337C>T (p.Arg113Trp) SNV Uncertain significance 88735 rs199849270 GRCh37: X:101096287-101096287
GRCh38: X:101841315-101841315
25 ALG13 NM_001099922.3(ALG13):c.383+2821_383+2822delinsTT Indel Uncertain significance 88736 rs397518473 GRCh37: X:110931152-110931153
GRCh38: X:111687924-111687925
26 NPHS1 NM_004646.3(NPHS1):c.3173C>T (p.Ser1058Leu) SNV Uncertain significance 180466 rs201503587 GRCh37: 19:36322658-36322658
GRCh38: 19:35831756-35831756
27 CD2AP NM_012120.3(CD2AP):c.*496delinsGTGTGTGTG Indel Uncertain significance 357203 rs886061534 GRCh37: 6:47592459-47592459
GRCh38: 6:47624723-47624723
28 WT1 NM_024426.6(WT1):c.1388G>A (p.Arg463Gln) SNV Uncertain significance 599100 rs1037084691 GRCh37: 11:32413577-32413577
GRCh38: 11:32392031-32392031
29 COQ8B NM_024876.4(COQ8B):c.538C>T (p.Arg180Cys) SNV Uncertain significance 988159 GRCh37: 19:41211039-41211039
GRCh38: 19:40705134-40705134
30 NPHS1 NM_004646.3(NPHS1):c.528T>C (p.Ser176=) SNV Uncertain significance 222760 rs539716201 GRCh37: 19:36341346-36341346
GRCh38: 19:35850444-35850444
31 LAMB2 NM_002292.4(LAMB2):c.1682G>A (p.Arg561Gln) SNV Uncertain significance 222684 rs866448113 GRCh37: 3:49166502-49166502
GRCh38: 3:49129069-49129069
32 CD2AP NM_012120.3(CD2AP):c.1569_1571AGA[2] (p.Glu525del) Microsatellite Uncertain significance 357176 rs545551160 GRCh37: 6:47575700-47575702
GRCh38: 6:47607964-47607966
33 CD2AP NM_012120.3(CD2AP):c.*454_*455GT[19] Microsatellite Uncertain significance 357191 rs60486147 GRCh37: 6:47592416-47592419
GRCh38: 6:47624680-47624683
34 INF2 NM_022489.4(INF2):c.1262_1267CACCCC[3] (p.Pro427_Pro428del) Microsatellite Uncertain significance 312687 rs573567814 GRCh37: 14:105173863-105173868
GRCh38: 14:104707526-104707531
35 CD2AP NM_012120.3(CD2AP):c.*2116_*2118del Deletion Uncertain significance 357223 rs886061545 GRCh37: 6:47594078-47594080
GRCh38: 6:47626342-47626344
36 CD2AP NM_012120.3(CD2AP):c.*452_*455del Deletion Uncertain significance 357185 rs886061524 GRCh37: 6:47592414-47592417
GRCh38: 6:47624678-47624681
37 CD2AP NM_012120.3(CD2AP):c.*454_*455GT[24] Microsatellite Uncertain significance 357188 rs60486147 GRCh37: 6:47592415-47592416
GRCh38: 6:47624679-47624680
38 TRPC6 NM_004621.6(TRPC6):c.739C>T (p.Arg247Trp) SNV Uncertain significance 301910 rs201859973 GRCh37: 11:101374961-101374961
GRCh38: 11:101504230-101504230
39 CD2AP NM_012120.3(CD2AP):c.*496_*502delinsGTGTGTGTGTG Indel Uncertain significance 357206 rs886061535 GRCh37: 6:47592459-47592465
GRCh38: 6:47624723-47624729
40 CD2AP NM_012120.3(CD2AP):c.*454_*455GT[23] Microsatellite Uncertain significance 357187 rs60486147 GRCh37: 6:47592415-47592416
GRCh38: 6:47624679-47624680
41 CD2AP NM_012120.3(CD2AP):c.*496_*497AT[7] Microsatellite Uncertain significance 357201 rs71538327 GRCh37: 6:47592458-47592459
GRCh38: 6:47624722-47624723
42 CD2AP NM_012120.3(CD2AP):c.*1466del Deletion Uncertain significance 357218 rs886061541 GRCh37: 6:47593427-47593427
GRCh38: 6:47625691-47625691
43 CD2AP NM_012120.3(CD2AP):c.*454_*455GT[22] Microsatellite Uncertain significance 357186 rs60486147 GRCh37: 6:47592415-47592416
GRCh38: 6:47624679-47624680
44 CD2AP NM_012120.3(CD2AP):c.*496delinsGTGTGTGTGTG Indel Uncertain significance 357204 rs886061534 GRCh37: 6:47592459-47592459
GRCh38: 6:47624723-47624723
45 CD2AP NM_012120.3(CD2AP):c.*496_*504delinsGTGTG Indel Uncertain significance 357207 rs886061536 GRCh37: 6:47592459-47592467
GRCh38: 6:47624723-47624731
46 CD2AP NM_012120.3(CD2AP):c.*454_*455GT[20] Microsatellite Uncertain significance 357190 rs60486147 GRCh37: 6:47592416-47592417
GRCh38: 6:47624680-47624681
47 CD2AP NM_012120.3(CD2AP):c.*490G>A SNV Uncertain significance 357193 rs886061528 GRCh37: 6:47592453-47592453
GRCh38: 6:47624717-47624717
48 CD2AP NM_012120.3(CD2AP):c.*494_*499del Deletion Uncertain significance 357196 rs886061530 GRCh37: 6:47592456-47592461
GRCh38: 6:47624720-47624725
49 CD2AP NM_012120.3(CD2AP):c.*451_*452insGT Insertion Uncertain significance 357184 rs886061523 GRCh37: 6:47592413-47592414
GRCh38: 6:47624677-47624678
50 CD2AP NM_012120.3(CD2AP):c.*495_*496insGTAT Insertion Uncertain significance 357199 rs886061525 GRCh37: 6:47592457-47592458
GRCh38: 6:47624721-47624722

Expression for Focal Segmental Glomerulosclerosis

Search GEO for disease gene expression data for Focal Segmental Glomerulosclerosis.

Pathways for Focal Segmental Glomerulosclerosis

Pathways related to Focal Segmental Glomerulosclerosis according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 11.44 LAMB2 COL4A5 ACTN4
2 11.37 WT1 TRPC6 SYNPO SMARCAL1 PTPRO PLCE1
3 10.67 NPHS1 CD2AP ACTN4
4 10.67 TRPC6 NPHS2 NPHS1 CD2AP

GO Terms for Focal Segmental Glomerulosclerosis

Cellular components related to Focal Segmental Glomerulosclerosis according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular exosome GO:0070062 9.76 PTPRO NPHS2 NPHS1 MYO1E LAMB2 CRB2
2 actin cytoskeleton GO:0015629 9.35 SYNPO MYO1E CD2AP ANLN ACTN4
3 slit diaphragm GO:0036057 8.8 TRPC6 NPHS2 NPHS1

Biological processes related to Focal Segmental Glomerulosclerosis according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 vesicle transport along actin filament GO:0030050 9.46 MYO1E ACTN4
2 glomerular visceral epithelial cell development GO:0072015 9.43 NPHS1 MYO1E
3 mesenchymal to epithelial transition GO:0060231 9.4 WT1 PAX2
4 glomerular visceral epithelial cell differentiation GO:0072112 9.37 WT1 PTPRO
5 metanephric mesenchyme development GO:0072075 9.32 WT1 PAX2
6 metanephric epithelium development GO:0072207 9.26 WT1 PAX2
7 metanephric glomerular visceral epithelial cell development GO:0072249 9.16 NPHS2 LAMB2
8 glomerular basement membrane development GO:0032836 9.13 WT1 NPHS1 MYO1E
9 glomerulus development GO:0032835 8.8 WT1 PTPRO PLCE1

Molecular functions related to Focal Segmental Glomerulosclerosis according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 actin binding GO:0003779 9.1 TRPC6 SYNPO MYO1E INF2 ANLN ACTN4

Sources for Focal Segmental Glomerulosclerosis

3 CDC
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57 OMIM® (Updated 20-May-2021)
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71 UMLS via Orphanet
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