FGS
MCID: FCL005
MIFTS: 59

Focal Segmental Glomerulosclerosis (FGS)

Categories: Genetic diseases, Nephrological diseases, Rare diseases

Aliases & Classifications for Focal Segmental Glomerulosclerosis

MalaCards integrated aliases for Focal Segmental Glomerulosclerosis:

Name: Focal Segmental Glomerulosclerosis 12 52 36 29 6 15 17
Glomerulosclerosis, Focal Segmental 54 43
Segmental Glomerulosclerosis 52 71
Focal Glomerulosclerosis 12 71
Fsgs 12 52
Focal Segmental Glomerulosclerosis, Not Otherwise Specified 71
Familial Idiopathic Steroid-Resistant Nephrotic Syndrome 52
Familial Idiopathic Nephrotic Syndrome 52
Glomerulosclerosis, Segmental, Focal 39
Focal Sclerosis with Hyalinosis 52
Focal Glomerular Sclerosis 12
Glomerulosclerosis, Focal 52
Glomerulosclerosis Focal 54
Fgs 12

Classifications:



External Ids:

Disease Ontology 12 DOID:1312
KEGG 36 H00626
MeSH 43 D005923
NCIt 49 C37308
SNOMED-CT 67 25821008
UMLS 71 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 glomerulosclerosis, focal segmental, is related to focal segmental glomerulosclerosis 6 and focal segmental glomerulosclerosis 5. An important gene associated with Focal Segmental Glomerulosclerosis is INF2 (Inverted Formin, FH2 And WH2 Domain Containing), and among its related pathways/superpathways are Amoebiasis and Primary Focal Segmental Glomerulosclerosis FSGS. The drugs Methylprednisolone and Methylprednisolone hemisuccinate have been mentioned in the context of this disorder. Affiliated tissues include Kidney, endothelial and testes, and related phenotypes are Decreased viability and Decreased viability

NIH Rare Diseases : 52 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 : 74 Focal segmental glomerulosclerosis (FSGS) is a cause of nephrotic syndrome in children and adolescents,... more...

Related Diseases for Focal Segmental Glomerulosclerosis

Diseases in the Focal Segmental Glomerulosclerosis family:

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 585)
# Related Disease Score Top Affiliating Genes
1 focal segmental glomerulosclerosis 6 35.4 MYO1E INF2 CRB2 ACTN4
2 focal segmental glomerulosclerosis 5 35.3 TRPC6 NPHS2 INF2 CRB2 APOL1 ACTN4
3 focal segmental glomerulosclerosis 9 35.3 LAMB2 INF2 CRB2
4 focal segmental glomerulosclerosis 7 35.3 PAX2 LAMB2 INF2 CRB2
5 focal segmental glomerulosclerosis 2 35.2 TRPC6 NPHS2 NPHS1 INF2 CRB2 CD2AP
6 focal segmental glomerulosclerosis 8 35.2 LAMB2 INF2 CRB2 ANLN
7 focal segmental glomerulosclerosis 1 35.1 TRPC6 NPHS2 NPHS1 MYO1E INF2 CRB2
8 nephrotic syndrome, type 1 33.7 WT1 NPHS2 NPHS1 CD2AP ACTN4
9 nephrotic syndrome, type 2 33.6 PLCE1 NPHS2 NPHS1 INF2 ACTN4
10 frasier syndrome 33.0 WT1 TRPC6 SMARCAL1 PLCE1 NPHS2 NPHS1
11 nephrotic syndrome 33.0 WT1 TRPC6 SYNPO SMARCAL1 PTPRO PLCE1
12 end stage renal failure 32.2 WT1 PTPRO PLCE1 NPHS2 NPHS1 MYH9
13 glomerular disease 32.1 NPHS2 NPHS1 CD2AP
14 glomerulonephritis 32.1 NPHS2 NPHS1 MYH9 COL4A4
15 membranous nephropathy 32.0 TRPC6 NPHS2 NPHS1 CD2AP
16 iga glomerulonephritis 31.8 SYNPO NPHS2 NPHS1
17 lipoid nephrosis 31.7 WT1 TRPC6 SYNPO PTPRO NPHS2 NPHS1
18 wilms tumor 5 31.6 WT1 PAX2 CDKN1C
19 chronic kidney disease 31.5 NPHS2 NPHS1 MYH9 COL4A4 APOL1
20 alport syndrome 31.4 MYH9 LAMB2 COL4A4
21 kidney disease 31.3 WT1 TRPC6 PAX2 NPHS2 NPHS1 MYH9
22 crescentic glomerulonephritis 31.2 WT1 SYNPO PTPRO NPHS2 ACTN4
23 nephrosclerosis 31.2 SYNPO NPHS2 NPHS1
24 autosomal recessive alport syndrome 31.0 NPHS2 MYH9 COL4A4
25 diffuse mesangial sclerosis 30.9 WT1 PLCE1 PAX2 NPHS2 NPHS1 LAMB2
26 renal hypertension 30.9 NPHS1 MYH9 APOL1
27 familial nephrotic syndrome 30.7 WT1 TRPC6 SYNPO PTPRO PLCE1 NPHS2
28 oligomeganephronia 30.7 PAX2 NPHS2 NPHS1 INF2 ACTN4
29 iga nephropathy 1 30.7 NPHS2 NPHS1
30 kidney hypertrophy 30.7 SYNPO NPHS2 NPHS1
31 hypoparathyroidism, sensorineural deafness, and renal disease 30.6 PAX2 NPHS2 NPHS1 LAMB2 ACTN4
32 wilms tumor 1 30.6 WT1 SYNPO PAX2 NPHS2 NPHS1 CDKN1C
33 denys-drash syndrome 30.5 WT1 TRPC6 SYNPO PLCE1 PAX2 NPHS2
34 genetic steroid-resistant nephrotic syndrome 30.5 WT1 TRPC6 PTPRO PLCE1 PAX2 NPHS2
35 pierson syndrome 30.4 WT1 PLCE1 NPHS2 NPHS1 LAMB2 INF2
36 galloway-mowat syndrome 30.2 WT1 SYNPO SMARCAL1 PTPRO PLCE1 NPHS2
37 nail-patella syndrome 30.1 WT1 TRPC6 PLCE1 PAX2 NPHS2 NPHS1
38 hypertension, essential 29.7 TRPC6 NPHS2 NPHS1 MYH9 INF2 APOL1
39 focal segmental glomerulosclerosis 3 13.0
40 focal segmental glomerulosclerosis 4 13.0
41 fg syndrome 4 12.8
42 fg syndrome 2 12.8
43 familial idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial sclerosis 12.7
44 familial idiopathic steroid-resistant nephrotic syndrome with minimal changes 12.7
45 familial idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial proliferation 12.7
46 opitz-kaveggia syndrome 12.7
47 fg syndrome 3 12.4
48 fg syndrome 5 12.4
49 c1q nephropathy 11.9
50 nephrotic syndrome, type 14 11.9

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 GR00221-A-2 10.12 CDKN1C
2 Decreased viability GR00221-A-3 10.12 CDKN1C
3 Decreased viability GR00221-A-4 10.12 CDKN1C
4 Decreased viability GR00240-S-1 10.12 ANLN
5 Decreased viability GR00301-A 10.12 CDKN1C
6 Decreased viability GR00381-A-1 10.12 ANLN INF2 SYNPO WT1
7 Decreased viability GR00402-S-2 10.12 ACTN4 ANLN APOL1 CD2AP CDKN1C COL4A4
8 no effect GR00402-S-1 9.62 ACTN4 ANLN APOL1 CD2AP CDKN1C COL4A4

MGI Mouse Phenotypes related to Focal Segmental Glomerulosclerosis:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.73 ACTN4 CD2AP CRB2 INF2 MYH9 MYO1E
2 renal/urinary system MP:0005367 9.44 ACTN4 CD2AP COL4A4 LAMB2 MYH9 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 138)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Methylprednisolone Approved, Vet_approved Phase 4 83-43-2 6741
2
Methylprednisolone hemisuccinate Approved Phase 4 2921-57-5
3
Prednisolone Approved, Vet_approved Phase 4 50-24-8 5755
4 Prednisolone acetate Approved, Vet_approved Phase 4 52-21-1
5
Prednisolone phosphate Approved, Vet_approved Phase 4 302-25-0
6
Tacrolimus Approved, Investigational Phase 4 104987-11-3 445643 439492 6473866
7
Mycophenolic acid Approved Phase 4 24280-93-1 446541
8
Angiotensin II Approved, Investigational Phase 4 68521-88-0, 11128-99-7, 4474-91-3 172198
9
Valsartan Approved, Investigational Phase 4 137862-53-4 60846
10
Prednisolone hemisuccinate Experimental Phase 4 2920-86-7
11 Anti-Inflammatory Agents Phase 4
12 Gastrointestinal Agents Phase 4
13 Methylprednisolone Acetate Phase 4
14 Neuroprotective Agents Phase 4
15 glucocorticoids Phase 4
16 Antineoplastic Agents, Hormonal Phase 4
17 Antiemetics Phase 4
18 Autonomic Agents Phase 4
19 Immunoglobulin A Phase 4
20 Sodium-Glucose Transporter 2 Inhibitors Phase 4
21 2-(3-(4-ethoxybenzyl)-4-chlorophenyl)-6-hydroxymethyltetrahydro-2H-pyran-3,4,... Phase 4
22 Hypoglycemic Agents Phase 4
23 Immunologic Factors Phase 4
24 Immunosuppressive Agents Phase 4
25 Calcineurin Inhibitors Phase 4
26 Antibiotics, Antitubercular Phase 4
27 Anti-Infective Agents Phase 4
28 Anti-Bacterial Agents Phase 4
29 Antitubercular Agents Phase 4
30 Pharmaceutical Solutions Phase 4
31 Hormone Antagonists Phase 4
32 Hormones Phase 4
33 Melanocyte-Stimulating Hormones Phase 4
34 Adrenocorticotropic Hormone Phase 4
35 beta-endorphin Phase 4
36 Angiotensin Receptor Antagonists Phase 4
37 Angiotensin II Type 1 Receptor Blockers Phase 4
38 Angiotensinogen Phase 4
39 Giapreza Phase 4
40 Antihypertensive Agents Phase 4
41
Valproic acid Approved, Investigational Phase 2, Phase 3 99-66-1 3121
42
Chlorambucil Approved Phase 3 305-03-3 2708
43
Miconazole Approved, Investigational, Vet_approved Phase 3 22916-47-8 4189
44
Dexamethasone acetate Approved, Investigational, Vet_approved Phase 3 1177-87-3
45
Dexamethasone Approved, Investigational, Vet_approved Phase 3 50-02-2 5743
46
Azathioprine Approved Phase 3 446-86-6 2265
47
Irbesartan Approved, Investigational Phase 3 138402-11-6 3749
48
Prednisone Approved, Vet_approved Phase 3 53-03-2 5865
49
rituximab Approved Phase 3 174722-31-7 10201696
50 Neurotransmitter Agents Phase 2, Phase 3

Interventional clinical trials:

(show top 50) (show all 85)
# Name Status NCT ID Phase Drugs
1 Treating to Reduce Albuminuria and Normalize Hemodynamic Function in Focal ScLerosis With dApagliflozin Trial Effects: "The TRANSLATE Study" Completed NCT02585804 Phase 4 Dapagliflozin
2 Idiopathic Focal Segmental Glomerulosclerosis (FSGS) and Treatment With ACTH Completed NCT01155141 Phase 4 H.P. Acthar Gel
3 The Treatment of Resistant Nephrotic Syndrome With ACTH Gel (ACTHAR) Completed NCT01129284 Phase 4 ACTHAR gel
4 Tacrolimus vs Prednisolone for the Treatment Minimal Change Disease Completed NCT00982072 Phase 4 tacrolimus;prednisolone
5 A Randomized Open-label Study to Evaluate the Efficacy and Safety of Tacrolimus and Corticosteroids in Comparison With Mycophenolate Mofetil and Corticosteroids in Subjects With Class III/IV±V Lupus Nephritis Recruiting NCT02630628 Phase 4 Tacrolimus;Mycophenolate mofetil
6 A Multicenterer, Comparative Safety Andof ACTHar Gel Alone or in Cwith oe Urinary in Patients Positive Fibrillary Glomerulopathy Recruiting NCT04080076 Phase 4 Acthar 80 UNT/ML Injectable Solution;Tacrolimus capsule
7 Treatment of Proteinuria Due to Treatment Resistant or Treatment Intolerant Idiopathic Focal Segmental Glomerulosclerosis: A Prospective Study of Acthar (PODOCYTE) Active, not recruiting NCT02633046 Phase 4 Acthar 80 U 3x/week;Acthar 80 U 2x/week
8 Acthar for Treatment of Post-transplant FSGS Not yet recruiting NCT02399462 Phase 4 Acthar
9 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
10 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
11 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
12 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
13 Focal Segmental Glomerulosclerosis Clinical Trial Completed NCT00135811 Phase 3 Cyclosporin;MMF and Dexamethasone
14 Pulse Dexamethasone Over 48 Weeks for Podocyte Disease Completed NCT00065611 Phase 3 Oral dexamethasone
15 A Prospective, Randomized, Double Blind, Placebo-controlled Phase II/III Study Evaluating the Efficacy of Rituximab in the Prevention of Relapse of Calcineurin Inhibitors Dependent Idiopathic Nephrotic Syndrome of Childhood Completed NCT01268033 Phase 2, Phase 3 Rituximab;Placebo
16 Steroids and Azathioprine in Early and Advanced IgA Nephropathy: Amendments to a Prospective Randomised Multicenter Trial Completed NCT01392833 Phase 3 methylprednisolone;azathioprine;prednisone
17 Phase 3 Study of Tacrolimus Combined With Prednisone Treatment of Idiopathic Membranous Nephropathy and Nephrotic Syndrome Completed NCT00362531 Phase 2, Phase 3 tacrolimus combined with prednisone
18 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 Recruiting NCT03493685 Phase 3 sparsentan;irbesartan
19 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
20 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
21 The Use of Rituximab to Prevent Recurrence of Proteinuria in Patients Receiving Kidney Transplant for FSGS Terminated NCT01164098 Phase 3 Rituximab
22 Study of Losmapimod to Reduce Proteinuria in Idiopathic Focal Segmental Glomerulosclerosis (FSGS) Completed NCT02000440 Phase 2 Losmapimod
23 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
24 Sirolimus for Focal Segmental Glomerulosclerosis Completed NCT00040508 Phase 2 Sirolimus
25 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
26 Pirfenidone in Focal Segmental Glomerulosclerosis:Phase II Study Completed NCT00001959 Phase 2 Pirfenidone
27 Anti-CD20, Rituximab, for the Treatment of Recurrent or Primary Resistant Focal Segmental Glomerulosclerosis (FSGS) Completed NCT00550342 Phase 2 rituximab
28 Retinoids for Podocyte Disease Completed NCT00098020 Phase 2 Isotretinoin
29 Permeability Factor in Focal Segmental Glomerulosclerosis Completed NCT00007475 Phase 1, Phase 2 Cyclophosphamide
30 Pulse Dexamethasone in Focal Segmental Glomerulosclerosis Completed NCT00004990 Phase 2 Dexamethasone
31 Novel Therapies for Resistant Focal Segmental Glomerulosclerosis Completed NCT00814255 Phase 2 Adalimumab;Lisinopril, losartan, and atorvastatin;galactose
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 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 PRIMARY FOCAL SEGMENTAL GLOMERULOSCLEROSIS (FSGS) Recruiting NCT03448692 Phase 2 PF-06730512
34 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
35 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 Recruiting NCT03598036 Phase 2 Voclosporin
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 Recruiting NCT03649152 Phase 2 Propagermanium;Placebo
37 A Phase 2 Multicenter, Open Label, Randomized Study of Two Titration Regimens of Oral CXA-10 in Subjects With Primary Focal Segmental Glomerulosclerosis (FSGS) Recruiting NCT03422510 Phase 2 CXA-10
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 Recruiting NCT02921789 Phase 2 Bleselumab;Basiliximab;Mycophenolate Mofetil (MMF);Tacrolimus Capsules;Methylprednisone;Prednisone
39 PRI-VENT FSGS: Preemptive Rituximab to Prevent Recurrent Focal Segmental Glomerulosclerosis Post-Transplant Recruiting NCT03763643 Phase 1, Phase 2 Rituximab;Placebo
40 Evaluation of Therapeutic Potential of Stromal Vascular Fraction (Autologous Adipose Derived Mesenchymal Stem Cell) Based Treatment for Chronic Kidney Disease Recruiting NCT03939741 Phase 1, Phase 2
41 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
42 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) Active, not recruiting NCT03536754 Phase 2 CCX140-B
43 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 Active, not recruiting NCT01573533 Phase 2
44 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) Active, not recruiting NCT02592798 Phase 2 Abatacept
45 Optimal Management of HIV Infected Adults at Risk for Kidney Complications in Nigeria Not yet recruiting NCT03201939 Phase 2 Lisinopril
46 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
47 Safety Study of the Endovascular Infusion of Bone Marrow Derived Mononuclear Cells in Patients With Focal Segmental Glomerulosclerosis Unknown status NCT02693366 Phase 1
48 Phase 1 Study of TLI Pretransplant to Prevent Recurrence of FSGS in the Graft Completed NCT00353535 Phase 1
49 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
50 Novel Therapies for Resistant FSGS Completed NCT00193648 Phase 1 Rosiglitazone (Avandia);Adalimumab (Humira)

Search NIH Clinical Center for Focal Segmental Glomerulosclerosis

Inferred drug relations via UMLS 71 / NDF-RT 50 :


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

Anatomical Context for Focal Segmental Glomerulosclerosis

MalaCards organs/tissues related to Focal Segmental Glomerulosclerosis:

40
Kidney, Endothelial, Testes, Bone, Lung, Monocytes, T Cells
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 4421)
# Title Authors PMID Year
1
A novel WT1 gene mutation in a three-generation family with progressive isolated focal segmental glomerulosclerosis. 61 54
20150449 2010
2
Functional analysis of promoter mutations in the ACTN4 and SYNPO genes in focal segmental glomerulosclerosis. 54 61
19666657 2010
3
Phosphorylation of alpha-actinin 4 upon epidermal growth factor exposure regulates its interaction with actin. 61 54
19920151 2010
4
Nephrin mutations cause childhood- and adult-onset focal segmental glomerulosclerosis. 54 61
19812541 2009
5
Very low-molecular-mass fragments of albumin in the plasma of patients with focal segmental glomerulosclerosis. 61 54
19781833 2009
6
TRPC6 mutational analysis in a large cohort of patients with focal segmental glomerulosclerosis. 61 54
19458060 2009
7
Glomerular epithelial cell injury associated with mutant alpha-actinin-4. 61 54
19640905 2009
8
Membranoproliferative glomerulonephritis associated with a mutation in Wilms' tumour suppressor gene 1. 54 61
19205749 2009
9
CD2AP mutations are associated with sporadic nephrotic syndrome and focal segmental glomerulosclerosis (FSGS). 54 61
19131354 2009
10
Identification and functional analysis of a novel TRPC6 mutation associated with late onset familial focal segmental glomerulosclerosis in Chinese patients. 54 61
19124028 2009
11
TRPC6 mutations associated with focal segmental glomerulosclerosis cause constitutive activation of NFAT-dependent transcription. 54 61
19129465 2009
12
Modulating alpha-actinin-4 dynamics in podocytes. 54 61
19206166 2009
13
The transcriptional regulation of podocin (NPHS2) by Lmx1b and a promoter single nucleotide polymorphism. 61 54
19562271 2009
14
ACTN4 gene mutations and single nucleotide polymorphisms in idiopathic focal segmental glomerulosclerosis. 54 61
19142020 2009
15
[Mutations in NPHS2 in familial steroid-resistant nephrotic syndrome in Southern Chinese Han ethnic group]. 54 61
19099831 2008
16
Molecular pathology of nephrotic syndrome in childhood: a contemporary approach to diagnosis. 61 54
18462046 2008
17
Familial focal segmental glomerulosclerosis associated with an ACTN4 mutation and paternal germline mosaicism. 54 61
18436095 2008
18
Clinical features and mutational survey of NPHS2 (podocin) in Japanese children with focal segmental glomerulosclerosis who underwent renal transplantation. 61 54
18208440 2008
19
Primer: strategies for identifying genes involved in renal disease. 54 61
18364721 2008
20
Crystal structure of the actin-binding domain of alpha-actinin-4 Lys255Glu mutant implicated in focal segmental glomerulosclerosis. 54 61
18164029 2008
21
Proteomics of plasma and urine in primary nephrotic syndrome in children. 61 54
18401158 2008
22
NPHS2 variation in sporadic focal segmental glomerulosclerosis. 61 54
17942957 2007
23
Focal segmental glomerulosclerosis in a patient homozygous for a CD2AP mutation. 61 54
17713465 2007
24
Renin-angiotensin axis blockade reduces proteinuria in presymptomatic patients with familial FSGS. 61 54
17530296 2007
25
WT1 intron 9 splice acceptor site mutation in a 46,XY male with focal segmental glomerulosclerosis. 54 61
17061122 2007
26
Recurrent nephrotic syndrome in homozygous truncating NPHS2 mutation is not due to anti-podocin antibodies. 54 61
17109732 2007
27
Recessive NPHS2 (Podocin) mutations are rare in adult-onset idiopathic focal segmental glomerulosclerosis. 54 61
17699384 2007
28
[Synaptopodin immunoexpression in steroid-responsive and steroid-resistant minimal change disease and focal segmental glomerulosclerosis]. 54 61
18336100 2007
29
Vitamin E in renal therapeutic regiments. 61 54
17186590 2006
30
Angiotensin converting enzyme gene polymorphisms do not predict the course of idiopathic nephrotic syndrome in Swiss children. 54 61
17199794 2006
31
Cellular focal segmental glomerulosclerosis: Clinical and pathologic features. 54 61
17021605 2006
32
Posttransplant recurrence of proteinuria in a case of focal segmental glomerulosclerosis associated with WT1 mutation. 54 61
16780544 2006
33
Ezrin--a useful factor in the prognosis of nephrotic syndrome in children: an immunohistochemical approach. 54 61
16522749 2006
34
Expression of synaptopodin and GLEPP1 as markers of steroid responsiveness in primary focal segmental glomerulosclerosis. 54 61
16564554 2006
35
Bigenic mouse models of focal segmental glomerulosclerosis involving pairwise interaction of CD2AP, Fyn, and synaptopodin. 61 54
16628251 2006
36
NPHS2 mutations in adult patients with primary focal segmental glomerulosclerosis. 54 61
16874699 2006
37
Characterization of kidney lesions in Indian adults: towards a renal biopsy registry. 61 54
16736422 2006
38
Sirolimus-associated heavy proteinuria in a renal transplant recipient: evidence for a tubular mechanism. 54 61
16426332 2006
39
NPHS2 gene, nephrotic syndrome and focal segmental glomerulosclerosis: a HuGE review. 61 54
16481888 2006
40
Genetic basis of nephrotic syndrome--review. 54 61
16752799 2006
41
Immunoexpression of podocyte-associated proteins in acquired human glomerulopathies with nephrotic syndrome. 54 61
16739878 2006
42
Mutational and Biological Analysis of alpha-actinin-4 in focal segmental glomerulosclerosis. 54 61
16251236 2005
43
TRPC6 - a new podocyte gene involved in focal segmental glomerulosclerosis. 61 54
16290061 2005
44
TRPC6 is a glomerular slit diaphragm-associated channel required for normal renal function. 61 54
15924139 2005
45
Analysis of NPHS1, NPHS2, ACTN4, and WT1 in Japanese patients with congenital nephrotic syndrome. 54 61
15780077 2005
46
Variants in the Wilms' tumor gene are associated with focal segmental glomerulosclerosis in the African American population. 54 61
15687485 2005
47
[Structure and function of the glomerular filtration barrier]. 61 54
15997642 2005
48
Molecular analysis of NPHS2 and ACTN4 genes in a series of 33 Italian patients affected by adult-onset nonfamilial focal segmental glomerulosclerosis. 61 54
15627790 2005
49
ACE gene polymorphism in children with nephrotic syndrome in the Indonesian population. 61 54
16421456 2005
50
Genetic forms of nephrotic syndrome. 54 61
15503167 2004

Variations for Focal Segmental Glomerulosclerosis

ClinVar genetic disease variations for Focal Segmental Glomerulosclerosis:

6 (show top 50) (show all 237) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 SMARCAL1 NM_001127207.2(SMARCAL1):c.2542G>T (p.Glu848Ter)SNV Pathogenic 4171 rs119473033 2:217342939-217342939 2:216478216-216478216
2 SMARCAL1 NM_001127207.2(SMARCAL1):c.723C>A (p.Cys241Ter)SNV Pathogenic 374208 rs748106387 2:217280150-217280150 2:216415427-216415427
3 INF2 NM_022489.4(INF2):c.658G>A (p.Glu220Lys)SNV Pathogenic/Likely pathogenic 523533 rs530391015 14:105169782-105169782 14:104703445-104703445
4 INF2 NM_022489.4(INF2):c.3563C>T (p.Ser1188Phe)SNV Conflicting interpretations of pathogenicity 312711 rs201715539 14:105181062-105181062 14:104714725-104714725
5 INF2 NM_022489.4(INF2):c.1262_1267CACCCC[3] (p.Pro427_Pro428del)short repeat Conflicting interpretations of pathogenicity 312687 rs573567814 14:105173884-105173889 14:104707547-104707552
6 INF2 NM_022489.4(INF2):c.1360C>T (p.Leu454Phe)SNV Conflicting interpretations of pathogenicity 246526 rs545495465 14:105173964-105173964 14:104707627-104707627
7 INF2 NM_022489.4(INF2):c.3221G>A (p.Arg1074Lys)SNV Conflicting interpretations of pathogenicity 245863 rs201445955 14:105180720-105180720 14:104714383-104714383
8 INF2 NM_022489.4(INF2):c.1770C>T (p.Pro590=)SNV Conflicting interpretations of pathogenicity 312693 rs549506051 14:105174807-105174807 14:104708470-104708470
9 INF2 NM_022489.4(INF2):c.2053A>G (p.Ile685Val)SNV Conflicting interpretations of pathogenicity 312700 rs199526439 14:105175957-105175957 14:104709620-104709620
10 INF2 NM_022489.4(INF2):c.2201T>G (p.Val734Gly)SNV Uncertain significance 312701 rs754128624 14:105176487-105176487 14:104710150-104710150
11 INF2 NM_022489.4(INF2):c.2009A>G (p.Glu670Gly)SNV Uncertain significance 312698 rs886050381 14:105175677-105175677 14:104709340-104709340
12 TRPC6 NM_004621.6(TRPC6):c.2410-11A>GSNV Uncertain significance 301901 rs886047537 11:101340243-101340243 11:101469512-101469512
13 TRPC6 NM_004621.6(TRPC6):c.1886G>C (p.Arg629Thr)SNV Uncertain significance 301904 rs775034304 11:101344363-101344363 11:101473632-101473632
14 TRPC6 NM_004621.6(TRPC6):c.1780A>G (p.Ile594Val)SNV Uncertain significance 301905 rs758348046 11:101344469-101344469 11:101473738-101473738
15 TRPC6 NM_004621.6(TRPC6):c.-317C>GSNV Uncertain significance 301921 rs886047540 11:101454551-101454551 11:101583820-101583820
16 TRPC6 NM_004621.6(TRPC6):c.-406C>ASNV Uncertain significance 301927 rs886047542 11:101454640-101454640 11:101583909-101583909
17 INF2 NM_022489.4(INF2):c.-50G>ASNV Uncertain significance 312674 rs886050379 14:105156036-105156036 14:104689699-104689699
18 INF2 NM_022489.4(INF2):c.986-14A>GSNV Uncertain significance 312681 rs774186716 14:105173576-105173576 14:104707239-104707239
19 CD2AP NM_012120.3(CD2AP):c.*2116_*2118deldeletion Uncertain significance 357223 rs886061545 6:47594079-47594081 6:47626343-47626345
20 CD2AP NM_012120.3(CD2AP):c.*2369G>ASNV Uncertain significance 357230 rs886061549 6:47594332-47594332 6:47626596-47626596
21 TRPC6 NM_004621.6(TRPC6):c.*1380G>ASNV Uncertain significance 301875 rs747229991 11:101322306-101322306 11:101451575-101451575
22 CD2AP NM_012120.3(CD2AP):c.*2037C>GSNV Uncertain significance 357221 rs886061544 6:47594000-47594000 6:47626264-47626264
23 TRPC6 NM_004621.6(TRPC6):c.*575C>ASNV Uncertain significance 301886 rs200705719 11:101323111-101323111 11:101452380-101452380
24 TRPC6 NM_004621.6(TRPC6):c.739C>T (p.Arg247Trp)SNV Uncertain significance 301910 rs201859973 11:101374961-101374961 11:101504230-101504230
25 TRPC6 NM_004621.6(TRPC6):c.*1349T>CSNV Uncertain significance 301876 rs180930016 11:101322337-101322337 11:101451606-101451606
26 TRPC6 NM_004621.6(TRPC6):c.*1176T>CSNV Uncertain significance 301877 rs886047535 11:101322510-101322510 11:101451779-101451779
27 CD2AP NM_012120.3(CD2AP):c.-4dupduplication Uncertain significance 357163 rs886061517 6:47445977-47445977 6:47478241-47478241
28 CD2AP NM_012120.3(CD2AP):c.400A>G (p.Ile134Val)SNV Uncertain significance 357165 rs747832531 6:47512422-47512422 6:47544686-47544686
29 CD2AP NM_012120.3(CD2AP):c.*454_*455GT[24]short repeat Uncertain significance 357188 rs60486147 6:47592453-47592458 6:47624717-47624722
30 CD2AP NM_012120.3(CD2AP):c.*454_*455GT[19]short repeat Uncertain significance 357191 rs60486147 6:47592455-47592458 6:47624719-47624722
31 CD2AP NM_012120.3(CD2AP):c.*454_*455GT[22]short repeat Uncertain significance 357186 rs60486147 6:47592457-47592458 6:47624721-47624722
32 CD2AP NM_012120.3(CD2AP):c.*495_*496insGTGTATinsertion Uncertain significance 357200 rs886061525 6:47592458-47592459 6:47624722-47624723
33 CD2AP NM_012120.3(CD2AP):c.*652A>GSNV Uncertain significance 357212 rs886061537 6:47592615-47592615 6:47624879-47624879
34 CD2AP NM_012120.3(CD2AP):c.*496_*497AT[5]short repeat Uncertain significance 357202 rs71538327 6:47592469-47592474 6:47624733-47624738
35 CD2AP NM_012120.3(CD2AP):c.*496_*497AT[7]short repeat Uncertain significance 357201 rs71538327 6:47592473-47592474 6:47624737-47624738
36 CD2AP NM_012120.3(CD2AP):c.*866C>TSNV Uncertain significance 357215 rs886061539 6:47592829-47592829 6:47625093-47625093
37 CD2AP NM_012120.3(CD2AP):c.*2118T>ASNV Uncertain significance 357224 rs886061546 6:47594081-47594081 6:47626345-47626345
38 CD2AP NM_012120.3(CD2AP):c.*2232C>TSNV Uncertain significance 357226 rs886061548 6:47594195-47594195 6:47626459-47626459
39 CD2AP NM_012120.3(CD2AP):c.*2445C>TSNV Uncertain significance 357231 rs886061550 6:47594408-47594408 6:47626672-47626672
40 CD2AP NM_012120.3(CD2AP):c.*2449C>ASNV Uncertain significance 357232 rs878891637 6:47594412-47594412 6:47626676-47626676
41 CD2AP NM_012120.3(CD2AP):c.-438C>TSNV Uncertain significance 357151 rs191920077 6:47445543-47445543 6:47477807-47477807
42 CD2AP NM_012120.3(CD2AP):c.-329C>TSNV Uncertain significance 357152 rs886061511 6:47445652-47445652 6:47477916-47477916
43 CD2AP NM_012120.3(CD2AP):c.-130C>GSNV Uncertain significance 357160 rs886061516 6:47445851-47445851 6:47478115-47478115
44 CD2AP NM_012120.3(CD2AP):c.1569_1571AGA[2] (p.Glu525del)short repeat Uncertain significance 357176 rs545551160 6:47575707-47575709 6:47607971-47607973
45 CD2AP NM_012120.3(CD2AP):c.1633-6T>ASNV Uncertain significance 357177 rs886061522 6:47576853-47576853 6:47609117-47609117
46 CD2AP NM_012120.3(CD2AP):c.*451_*452insGTinsertion Uncertain significance 357184 rs886061523 6:47592414-47592415 6:47624678-47624679
47 CD2AP NM_012120.3(CD2AP):c.*452C>GSNV Uncertain significance 357189 rs183129840 6:47592415-47592415 6:47624679-47624679
48 CD2AP NM_012120.3(CD2AP):c.*452_*455deldeletion Uncertain significance 357185 rs886061524 6:47592415-47592418 6:47624679-47624682
49 CD2AP NM_012120.3(CD2AP):c.*490G>ASNV Uncertain significance 357193 rs886061528 6:47592453-47592453 6:47624717-47624717
50 CD2AP NM_012120.3(CD2AP):c.*454_*455GT[23]short repeat Uncertain significance 357187 rs60486147 6:47592455-47592458 6:47624719-47624722

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 COL4A4 ACTN4
2 11.42 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 10.06 PTPRO NPHS2 NPHS1 MYO1E MYH9 LAMB2
2 protein-containing complex GO:0032991 9.73 PAX2 NPHS2 MYH9 CRB2 CD2AP ACTN4
3 cell-cell junction GO:0005911 9.62 NPHS2 MYO1E CD2AP ACTN4
4 stress fiber GO:0001725 9.61 SYNPO MYH9 ACTN4
5 brush border GO:0005903 9.54 MYO1E MYH9 ACTN4
6 cortical cytoskeleton GO:0030863 9.46 MYH9 ACTN4
7 actomyosin contractile ring GO:0005826 9.16 MYH9 ANLN
8 slit diaphragm GO:0036057 9.13 TRPC6 NPHS2 NPHS1
9 actin cytoskeleton GO:0015629 9.1 SYNPO MYO1E MYH9 CD2AP ANLN ACTN4

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

(show all 14)
# Name GO ID Score Top Affiliating Genes
1 kidney development GO:0001822 9.67 WT1 MYO1E CDKN1C
2 camera-type eye development GO:0043010 9.61 WT1 PAX2 CDKN1C
3 adrenal gland development GO:0030325 9.54 WT1 CDKN1C
4 actin filament-based movement GO:0030048 9.52 MYO1E MYH9
5 myoblast fusion GO:0007520 9.51 NPHS1 MYH9
6 regulation of exit from mitosis GO:0007096 9.48 CDKN1C ANLN
7 mesenchymal to epithelial transition GO:0060231 9.46 WT1 PAX2
8 metanephric mesenchyme development GO:0072075 9.4 WT1 PAX2
9 glomerular visceral epithelial cell development GO:0072015 9.37 NPHS1 MYO1E
10 glomerular visceral epithelial cell differentiation GO:0072112 9.32 WT1 PTPRO
11 metanephric epithelium development GO:0072207 9.26 WT1 PAX2
12 metanephric glomerular visceral epithelial cell development GO:0072249 9.16 NPHS2 LAMB2
13 glomerulus development GO:0032835 9.13 WT1 PTPRO PLCE1
14 glomerular basement membrane development GO:0032836 8.92 WT1 NPHS1 MYO1E COL4A4

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

# Name GO ID Score Top Affiliating Genes
1 integrin binding GO:0005178 9.5 MYH9 LAMB2 ACTN4
2 cadherin binding GO:0045296 9.46 PTPRO MYH9 CD2AP ANLN
3 microfilament motor activity GO:0000146 9.26 MYO1E MYH9
4 protein-containing complex binding GO:0044877 9.26 CRB2 CDKN1C CD2AP ACTN4
5 actin binding GO:0003779 9.17 TRPC6 SYNPO MYO1E MYH9 INF2 ANLN

Sources for Focal Segmental Glomerulosclerosis

3 CDC
7 CNVD
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10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
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30 HMDB
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32 ICD10
33 ICD10 via Orphanet
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44 MESH via Orphanet
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48 NCI
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50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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