FGS
MCID: FCL005
MIFTS: 63

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 53 37 29 6 15 17
Familial Idiopathic Steroid-Resistant Nephrotic Syndrome 53 59
Familial Idiopathic Nephrotic Syndrome 53 59
Glomerulosclerosis, Focal Segmental 55 44
Segmental Glomerulosclerosis 53 72
Focal Glomerulosclerosis 12 72
Fsgs 12 53
Focal Segmental Glomerulosclerosis, Not Otherwise Specified 72
Glomerulosclerosis, Segmental, Focal 40
Focal Sclerosis with Hyalinosis 53
Focal Glomerular Sclerosis 12
Glomerulosclerosis, Focal 53
Glomerulosclerosis Focal 55
Fgs 12

Characteristics:

Orphanet epidemiological data:

59
familial idiopathic steroid-resistant nephrotic syndrome
Inheritance: Autosomal dominant,Autosomal recessive; Age of onset: All ages;

Classifications:

Orphanet: 59  
Rare renal diseases


External Ids:

Disease Ontology 12 DOID:1312
KEGG 37 H00626
MeSH 44 D005923
NCIt 50 C37308
SNOMED-CT 68 25821008
ICD10 via Orphanet 34 N04.1 N04.3 N04.8
UMLS via Orphanet 73 C1868672
Orphanet 59 ORPHA656
UMLS 72 C0017668 C0333497 C4049702

Summaries for Focal Segmental Glomerulosclerosis

KEGG : 37
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 1 and nephrotic syndrome, type 1. An important gene associated with Focal Segmental Glomerulosclerosis is INF2 (Inverted Formin, FH2 And WH2 Domain Containing), and among its related pathways/superpathways are G-protein signaling Regulation of p38 and JNK signaling mediated by G-proteins and Amoebiasis. The drugs Tacrolimus and Prednisolone phosphate have been mentioned in the context of this disorder. Affiliated tissues include Kidney, kidney and endothelial, and related phenotypes are no effect and cardiovascular system

NIH Rare Diseases : 53 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 : 75 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 582)
# Related Disease Score Top Affiliating Genes
1 focal segmental glomerulosclerosis 1 35.4 NPHS1 ACTN4
2 nephrotic syndrome, type 1 33.8 WT1 NPHS2 NPHS1 CD2AP ACTN4
3 frasier syndrome 33.4 WT1 NPHS2 NPHS1 CD2AP ACTN4
4 sporadic idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis 33.4 NPHS2 CD2AP APOL1
5 nephrotic syndrome 33.1 WT1 SMARCAL1 PTPRO NPHS2 NPHS1 LAMB2
6 nephrotic syndrome, type 6 33.0 WT1 PTPRO NPHS2 NPHS1
7 end stage renal failure 32.4 WT1 NPHS2 NPHS1 MYH9
8 lipoid nephrosis 32.2 SYNPO NPHS2 NPHS1 CD2AP
9 glomerulonephritis 32.1 NPHS2 NPHS1 COL4A4 COL4A3
10 membranous nephropathy 32.1 NPHS2 NPHS1 CD2AP
11 familial idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis 31.7 WT1 TRPC6 PTPRO PAX2 NPHS2 NPHS1
12 nephrosclerosis 31.3 SYNPO NPHS2 NPHS1
13 crescentic glomerulonephritis 31.3 WT1 SYNPO PTPRO NPHS2
14 familial nephrotic syndrome 31.1 WT1 TRPC6 NPHS2 NPHS1 CRB2 CD2AP
15 diffuse mesangial sclerosis 31.0 WT1 PAX2 NPHS2 NPHS1 LAMB2
16 denys-drash syndrome 30.9 WT1 PAX2 NPHS2 NPHS1 CD2AP
17 hematuria, benign familial 30.8 COL4A4 COL4A3
18 hypoparathyroidism, sensorineural deafness, and renal disease 30.8 NPHS2 NPHS1 LAMB2 ACTN4
19 kidney disease 30.7 WT1 TRPC6 PAX2 NPHS2 NPHS1 MYH9
20 kidney hypertrophy 30.7 NPHS2 NPHS1
21 galloway-mowat syndrome 30.7 SYNPO NPHS2 NPHS1 ACTN4
22 pierson syndrome 30.6 NPHS2 LAMB2
23 nail-patella syndrome 30.6 PAX2 NPHS2 COL4A4 CD2AP
24 wilms tumor 1 30.3 WT1 SYNPO PTPRO PAX2 NPHS2 NPHS1
25 focal segmental glomerulosclerosis 2 13.0
26 focal segmental glomerulosclerosis 5 13.0
27 focal segmental glomerulosclerosis 3 13.0
28 focal segmental glomerulosclerosis 6 13.0
29 focal segmental glomerulosclerosis 4 13.0
30 focal segmental glomerulosclerosis 7 12.9
31 focal segmental glomerulosclerosis 8 12.9
32 focal segmental glomerulosclerosis 9 12.9
33 fg syndrome 4 12.8
34 fg syndrome 2 12.8
35 opitz-kaveggia syndrome 12.7
36 fg syndrome 3 12.4
37 fg syndrome 5 12.4
38 nephrotic syndrome, type 2 11.9
39 c1q nephropathy 11.9
40 nephrotic syndrome, type 14 11.9
41 schimke immunoosseous dysplasia 11.7
42 coenzyme q10 deficiency, primary, 6 11.7
43 nephrotic syndrome, type 12 11.7
44 x-linked intellectual disability with or without nystagmus 11.7
45 nephrotic syndrome, type 4 11.6
46 nephrotic syndrome, type 3 11.6
47 nephrotic syndrome, type 9 11.6
48 nephrotic syndrome, type 13 11.6
49 cask-related disorders 11.6
50 vaccinia 11.6

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 no effect GR00402-S-1 9.92 ACTN4 ANLN APOL1 CD2AP CDKN1C COL4A3

MGI Mouse Phenotypes related to Focal Segmental Glomerulosclerosis:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.15 ACTN4 CD2AP COL4A3 CRB2 INF2 MYH9
2 growth/size/body region MP:0005378 10.06 ACTN4 CD2AP COL4A3 COL4A4 CRB2 INF2
3 homeostasis/metabolism MP:0005376 10 ACTN4 CD2AP COL4A3 COL4A4 LAMB2 MYH9
4 mortality/aging MP:0010768 9.97 ACTN4 CD2AP COL4A3 COL4A4 CRB2 LAMB2
5 renal/urinary system MP:0005367 9.8 ACTN4 CD2AP COL4A3 COL4A4 LAMB2 MYH9
6 vision/eye MP:0005391 9.23 ACTN4 COL4A3 COL4A4 CRB2 LAMB2 MYH9

Drugs & Therapeutics for Focal Segmental Glomerulosclerosis

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

(show top 50) (show all 144)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Tacrolimus Approved, Investigational Phase 4 104987-11-3 445643 439492 6473866
2
Prednisolone phosphate Approved, Vet_approved Phase 4 302-25-0
3
Methylprednisolone hemisuccinate Approved Phase 4 2921-57-5
4
Mycophenolic acid Approved Phase 4 24280-93-1 446541
5
Methylprednisolone Approved, Vet_approved Phase 4 83-43-2 6741
6
Prednisolone Approved, Vet_approved Phase 4 50-24-8 5755
7
Angiotensin II Approved, Investigational Phase 4 11128-99-7, 68521-88-0, 4474-91-3 172198
8
Valsartan Approved, Investigational Phase 4 137862-53-4 60846
9
Prednisolone hemisuccinate Experimental Phase 4 2920-86-7
10 Immunoglobulin A Phase 4
11 2-(3-(4-ethoxybenzyl)-4-chlorophenyl)-6-hydroxymethyltetrahydro-2H-pyran-3,4,... Phase 4
12 Sodium-Glucose Transporter 2 Inhibitors Phase 4
13 Hypoglycemic Agents Phase 4
14 Immunologic Factors Phase 4
15 Immunosuppressive Agents Phase 4
16 Calcineurin Inhibitors Phase 4
17 Anti-Inflammatory Agents Phase 4
18 Gastrointestinal Agents Phase 4
19 Neuroprotective Agents Phase 4
20 Antiemetics Phase 4
21 Methylprednisolone Acetate Phase 4
22 Anti-Bacterial Agents Phase 4
23 glucocorticoids Phase 4
24 Anti-Infective Agents Phase 4
25 Antitubercular Agents Phase 4
26 Antineoplastic Agents, Hormonal Phase 4
27 Antibiotics, Antitubercular Phase 4
28 Peripheral Nervous System Agents Phase 4
29 Autonomic Agents Phase 4
30 Prednisolone acetate Phase 4
31 Hormones Phase 4
32 Adrenocorticotropic Hormone Phase 4
33 Hormone Antagonists Phase 4
34 Melanocyte-Stimulating Hormones Phase 4
35 beta-endorphin Phase 4
36 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 4
37 Neurotransmitter Agents Phase 4
38 Endorphins Phase 4
39 Angiotensinogen Phase 4
40 Giapreza Phase 4
41 Angiotensin Receptor Antagonists Phase 4
42 Angiotensin II Type 1 Receptor Blockers Phase 4
43 Antihypertensive Agents Phase 4
44
Chlorambucil Approved Phase 3 305-03-3 2708
45
Miconazole Approved, Investigational, Vet_approved Phase 3 22916-47-8 4189
46
Dexamethasone acetate Approved, Investigational, Vet_approved Phase 3 1177-87-3
47
Dexamethasone Approved, Investigational, Vet_approved Phase 3 50-02-2 5743
48
Azathioprine Approved Phase 3 446-86-6 2265
49
Irbesartan Approved, Investigational Phase 3 138402-11-6 3749
50
Prednisone Approved, Vet_approved Phase 3 53-03-2 5865

Interventional clinical trials:

(show top 50) (show all 83)
# 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 Treatment of Proteinuria Due to Treatment Resistant or Treatment Intolerant Idiopathic Focal Segmental Glomerulosclerosis: A 2 Part Prospective Study of H.P. Acthar® Gel (PODOCYTE) Recruiting NCT02633046 Phase 4 Acthar 80 U 2x/week;Acthar 80 U 3x/week
5 Tacrolimus vs Prednisolone for the Treatment Minimal Change Disease Recruiting NCT00982072 Phase 4 tacrolimus;prednisolone
6 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
7 Acthar for Treatment of Post-transplant FSGS Not yet recruiting NCT02399462 Phase 4 Acthar
8 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
9 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
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 Focal Segmental Glomerulosclerosis Clinical Trial Completed NCT00135811 Phase 3 Cyclosporin;MMF and Dexamethasone
12 Pulse Dexamethasone Over 48 Weeks for Podocyte Disease Completed NCT00065611 Phase 3 Oral dexamethasone
13 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
14 Steroids and Azathioprine in Early and Advanced IgA Nephropathy: Amendments to a Prospective Randomised Multicenter Trial Completed NCT01392833 Phase 3 methylprednisolone;azathioprine;prednisone
15 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
16 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
17 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
18 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
19 A Prospective Interventional Pilot Study on the Use of Valproic Acid for Treatment of Idiopathic Nephrotic Syndrome Recruiting NCT02896270 Phase 2, Phase 3 Valproic Acid
20 The Use of Rituximab to Prevent Recurrence of Proteinuria in Patients Receiving Kidney Transplant for FSGS Terminated NCT01164098 Phase 3 Rituximab
21 Study of Losmapimod to Reduce Proteinuria in Idiopathic Focal Segmental Glomerulosclerosis (FSGS) Completed NCT02000440 Phase 2 Losmapimod
22 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
23 Sirolimus for Focal Segmental Glomerulosclerosis Completed NCT00040508 Phase 2 Sirolimus
24 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
25 Pirfenidone in Focal Segmental Glomerulosclerosis:Phase II Study Completed NCT00001959 Phase 2 Pirfenidone
26 Anti-CD20, Rituximab, for the Treatment of Recurrent or Primary Resistant Focal Segmental Glomerulosclerosis (FSGS) Completed NCT00550342 Phase 2 rituximab
27 Retinoids for Podocyte Disease Completed NCT00098020 Phase 2 Isotretinoin
28 Permeability Factor in Focal Segmental Glomerulosclerosis Completed NCT00007475 Phase 1, Phase 2 Cyclophosphamide
29 Pulse Dexamethasone in Focal Segmental Glomerulosclerosis Completed NCT00004990 Phase 2 Dexamethasone
30 Novel Therapies for Resistant Focal Segmental Glomerulosclerosis Completed NCT00814255 Phase 2 Adalimumab;Lisinopril, losartan, and atorvastatin;galactose
31 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
32 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
33 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
34 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
35 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
36 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
37 PRI-VENT FSGS: Preemptive Rituximab to Prevent Recurrent Focal Segmental Glomerulosclerosis Post-Transplant Recruiting NCT03763643 Phase 1, Phase 2 Rituximab;Placebo
38 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
39 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
40 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
41 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
42 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
43 Precision Medicine Proof of Concept for Tumor Necrosis Factor Inhibition in Focal Segmental Glomerulosclerosis and Treatment Resistant Minimal Change Disease Not yet recruiting NCT04009668 Phase 2 adalimumab
44 Optimal Management of HIV Infected Adults at Risk for Kidney Complications in Nigeria Not yet recruiting NCT03201939 Phase 2 Lisinopril
45 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
46 Safety Study of the Endovascular Infusion of Bone Marrow Derived Mononuclear Cells in Patients With Focal Segmental Glomerulosclerosis Unknown status NCT02693366 Phase 1
47 Phase 1 Study of TLI Pretransplant to Prevent Recurrence of FSGS in the Graft Completed NCT00353535 Phase 1
48 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
49 Novel Therapies for Resistant FSGS Completed NCT00193648 Phase 1 Rosiglitazone (Avandia);Adalimumab (Humira)
50 A Phase 1 Multiple Ascending Dose Study to Evaluate the Safety, Tolerability, and Pharmacokinetics of ManNAc in Subjects With Primary Podocyte Diseases Completed NCT02639260 Phase 1 N-acetyl-mannosamine (ManNAc)

Search NIH Clinical Center for Focal Segmental Glomerulosclerosis

Inferred drug relations via UMLS 72 / NDF-RT 51 :


Ciclosporin
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:

41
Kidney, Endothelial, Bone, Lung, Testes, 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 4364)
# Title Authors PMID Year
1
Recurrent nephrotic syndrome in homozygous truncating NPHS2 mutation is not due to anti-podocin antibodies. 9 38 71
17109732 2007
2
TRPC6 is a glomerular slit diaphragm-associated channel required for normal renal function. 9 38 71
15924139 2005
3
Broadening the spectrum of diseases related to podocin mutations. 9 38 71
12707396 2003
4
Genotype/phenotype correlations of NPHS1 and NPHS2 mutations in nephrotic syndrome advocate a functional inter-relationship in glomerular filtration. 9 38 71
11854170 2002
5
Prevalence, genetics, and clinical features of patients carrying podocin mutations in steroid-resistant nonfamilial focal segmental glomerulosclerosis. 9 38 71
11729243 2001
6
Mutations in ACTN4, encoding alpha-actinin-4, cause familial focal segmental glomerulosclerosis. 9 38 71
10700177 2000
7
Three-layered proteomic characterization of a novel ACTN4 mutation unravels its pathogenic potential in FSGS. 38 71
26740551 2016
8
Biallelic Mutations in Nuclear Pore Complex Subunit NUP107 Cause Early-Childhood-Onset Steroid-Resistant Nephrotic Syndrome. 38 71
26411495 2015
9
MYO1E mutations and childhood familial focal segmental glomerulosclerosis. 38 71
21756023 2011
10
Mutational analysis of the PLCE1 gene in steroid resistant nephrotic syndrome. 38 71
20591883 2010
11
Mutations in the formin gene INF2 cause focal segmental glomerulosclerosis. 38 71
20023659 2010
12
Positional cloning uncovers mutations in PLCE1 responsible for a nephrotic syndrome variant that may be reversible. 38 71
17086182 2006
13
A mutation in the TRPC6 cation channel causes familial focal segmental glomerulosclerosis. 38 71
15879175 2005
14
Mutations in NPHS2 encoding podocin are a prevalent cause of steroid-resistant nephrotic syndrome among Israeli-Arab children. 38 71
11805168 2002
15
NPHS2, encoding the glomerular protein podocin, is mutated in autosomal recessive steroid-resistant nephrotic syndrome. 38 71
10742096 2000
16
Clinical and genetic heterogeneity in familial focal segmental glomerulosclerosis. International Collaborative Group for the Study of Familial Focal Segmental Glomerulosclerosis. 38 71
10200986 1999
17
Mutations in multiple components of the nuclear pore complex cause nephrotic syndrome. 71
30179222 2018
18
Mutations in nuclear pore genes NUP93, NUP205 and XPO5 cause steroid-resistant nephrotic syndrome. 71
26878725 2016
19
Defects of CRB2 cause steroid-resistant nephrotic syndrome. 71
25557779 2015
20
Mutations in the gene that encodes the F-actin binding protein anillin cause FSGS. 71
24676636 2014
21
Mutations in PAX2 associate with adult-onset FSGS. 71
24676634 2014
22
ADCK4 mutations promote steroid-resistant nephrotic syndrome through CoQ10 biosynthesis disruption. 71
24270420 2013
23
ARHGDIA mutations cause nephrotic syndrome via defective RHO GTPase signaling. 71
23867502 2013
24
ARHGDIA: a novel gene implicated in nephrotic syndrome. 71
23434736 2013
25
Disruption of PTPRO causes childhood-onset nephrotic syndrome. 71
21722858 2011
26
WT1 mutations in Meacham syndrome suggest a coelomic mesothelial origin of the cardiac and diaphragmatic malformations. 71
17853480 2007
27
An unusual phenotype of Frasier syndrome due to IVS9 +4C>T mutation in the WT1 gene: predominantly male ambiguous genitalia and absence of gonadal dysgenesis. 71
12050205 2002
28
The same mutation affecting the splicing of WT1 gene is present on Frasier syndrome patients with or without Wilms' tumor. 71
10094551 1999
29
Spectrum of early onset nephrotic syndrome associated with WT1 missense mutations. 71
9607189 1998
30
Frasier syndrome is caused by defective alternative splicing of WT1 leading to an altered ratio of WT1 +/-KTS splice isoforms. 71
9499425 1998
31
Identification of constitutional WT1 mutations, in patients with isolated diffuse mesangial sclerosis, and analysis of genotype/phenotype correlations by use of a computerized mutation database. 71
9529364 1998
32
Donor splice-site mutations in WT1 are responsible for Frasier syndrome. 71
9398852 1997
33
A clinical overview of WT1 gene mutations. 71
9090524 1997
34
Presymptomatic diagnosis of familial steroid-resistant nephrotic syndrome. 71
8606597 1996
35
Mapping a gene (SRN1) to chromosome 1q25-q31 in idiopathic nephrotic syndrome confirms a distinct entity of autosomal recessive nephrosis. 71
8589695 1995
36
Inherited WT1 mutation in Denys-Drash syndrome. 71
1327525 1992
37
Constitutional mutations in the WT1 gene in patients with Denys-Drash syndrome. 71
1338906 1992
38
Germline intronic and exonic mutations in the Wilms' tumour gene (WT1) affecting urogenital development. 71
1302008 1992
39
Alternative splicing and genomic structure of the Wilms tumor gene WT1. 71
1658787 1991
40
Germline mutations in the Wilms' tumor suppressor gene are associated with abnormal urogenital development in Denys-Drash syndrome. 71
1655284 1991
41
Glomerulonephritis associated with male pseudohermaphroditism and nephroblastoma. 71
6307071 1983
42
A novel WT1 gene mutation in a three-generation family with progressive isolated focal segmental glomerulosclerosis. 9 38
20150449 2010
43
Functional analysis of promoter mutations in the ACTN4 and SYNPO genes in focal segmental glomerulosclerosis. 9 38
19666657 2010
44
Phosphorylation of alpha-actinin 4 upon epidermal growth factor exposure regulates its interaction with actin. 9 38
19920151 2010
45
Nephrin mutations cause childhood- and adult-onset focal segmental glomerulosclerosis. 9 38
19812541 2009
46
Very low-molecular-mass fragments of albumin in the plasma of patients with focal segmental glomerulosclerosis. 9 38
19781833 2009
47
TRPC6 mutational analysis in a large cohort of patients with focal segmental glomerulosclerosis. 9 38
19458060 2009
48
Glomerular epithelial cell injury associated with mutant alpha-actinin-4. 9 38
19640905 2009
49
Membranoproliferative glomerulonephritis associated with a mutation in Wilms' tumour suppressor gene 1. 9 38
19205749 2009
50
CD2AP mutations are associated with sporadic nephrotic syndrome and focal segmental glomerulosclerosis (FSGS). 9 38
19131354 2009

Variations for Focal Segmental Glomerulosclerosis

ClinVar genetic disease variations for Focal Segmental Glomerulosclerosis:

6 (show top 50) (show all 243)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 WT1 NM_024426.6(WT1): c.1447+5G> A single nucleotide variant Pathogenic rs587776576 11:32413513-32413513 11:32391967-32391967
2 WT1 NM_024426.6(WT1): c.1447+4C> T single nucleotide variant Pathogenic rs587776577 11:32413514-32413514 11:32391968-32391968
3 SMARCAL1 NM_014140.3(SMARCAL1): c.2542G> T (p.Glu848Ter) single nucleotide variant Pathogenic rs119473033 2:217342939-217342939 2:216478216-216478216
4 SMARCAL1 NM_014140.3(SMARCAL1): c.723C> A (p.Cys241Ter) single nucleotide variant Pathogenic rs748106387 2:217280150-217280150 2:216415427-216415427
5 NPHS2 NM_014625.3(NPHS2): c.535-1G> T single nucleotide variant Pathogenic rs1291398331 1:179526366-179526366 1:179557231-179557231
6 INF2 NM_022489.4(INF2): c.658G> A (p.Glu220Lys) single nucleotide variant Pathogenic/Likely pathogenic rs530391015 14:105169782-105169782 14:104703445-104703445
7 WT1 NM_024426.6(WT1): c.1265G> T (p.Gly422Val) single nucleotide variant Likely pathogenic rs869025561 11:32414301-32414301 11:32392755-32392755
8 NPHS1 NM_004646.3(NPHS1): c.2398C> T (p.Arg800Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs114896482 19:36333389-36333389 19:35842487-35842487
9 INF2 NM_022489.4(INF2): c.3221G> A (p.Arg1074Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs201445955 14:105180720-105180720 14:104714383-104714383
10 INF2 NM_022489.4(INF2): c.1360C> T (p.Leu454Phe) single nucleotide variant Conflicting interpretations of pathogenicity rs545495465 14:105173964-105173964 14:104707627-104707627
11 INF2 NM_022489.4(INF2): c.1770C> T (p.Pro590=) single nucleotide variant Conflicting interpretations of pathogenicity rs549506051 14:105174807-105174807 14:104708470-104708470
12 INF2 NM_022489.4(INF2): c.2053A> G (p.Ile685Val) single nucleotide variant Conflicting interpretations of pathogenicity rs199526439 14:105175957-105175957 14:104709620-104709620
13 INF2 NM_022489.4(INF2): c.1262_1267CACCCC[3] (p.Pro427_Pro428del) short repeat Conflicting interpretations of pathogenicity rs573567814 14:105173884-105173889 14:104707547-104707552
14 INF2 NM_022489.4(INF2): c.3563C> T (p.Ser1188Phe) single nucleotide variant Conflicting interpretations of pathogenicity rs201715539 14:105181062-105181062 14:104714725-104714725
15 INF2 NM_022489.4(INF2): c.3550G> A (p.Ala1184Thr) single nucleotide variant Uncertain significance rs374684004 14:105181049-105181049 14:104714712-104714712
16 INF2 NM_022489.4(INF2): c.2022A> T (p.Gln674His) single nucleotide variant Uncertain significance rs886050382 14:105175690-105175690 14:104709353-104709353
17 TRPC6 NM_004621.6(TRPC6): c.*821C> T single nucleotide variant Uncertain significance rs886047536 11:101322865-101322865 11:101452134-101452134
18 INF2 NM_022489.4(INF2): c.966C> T (p.Ala322=) single nucleotide variant Uncertain significance rs774024906 14:105173369-105173369 14:104707032-104707032
19 INF2 NM_022489.4(INF2): c.1777G> A (p.Glu593Lys) single nucleotide variant Uncertain significance rs775320095 14:105174814-105174814 14:104708477-104708477
20 INF2 NM_022489.4(INF2): c.2987C> T (p.Thr996Ile) single nucleotide variant Uncertain significance rs377414980 14:105179890-105179890 14:104713553-104713553
21 INF2 NM_022489.4(INF2): c.3190T> C (p.Leu1064=) single nucleotide variant Uncertain significance rs886050383 14:105180689-105180689 14:104714352-104714352
22 TRPC6 NM_004621.6(TRPC6): c.-243C> T single nucleotide variant Uncertain significance rs199601311 11:101454477-101454477 11:101583746-101583746
23 INF2 NM_022489.4(INF2): c.1126A> T (p.Thr376Ser) single nucleotide variant Uncertain significance rs376942822 14:105173730-105173730 14:104707393-104707393
24 INF2 NM_022489.4(INF2): c.3206C> T (p.Pro1069Leu) single nucleotide variant Uncertain significance rs376139171 14:105180705-105180705 14:104714368-104714368
25 INF2 NM_022489.4(INF2): c.*815C> T single nucleotide variant Uncertain significance rs886050385 14:105185945-105185945 14:104719608-104719608
26 INF2 NM_022489.4(INF2): c.2201T> G (p.Val734Gly) single nucleotide variant Uncertain significance rs754128624 14:105176487-105176487 14:104710150-104710150
27 INF2 NM_022489.4(INF2): c.986-14A> G single nucleotide variant Uncertain significance rs774186716 14:105173576-105173576 14:104707239-104707239
28 TRPC6 NM_004621.6(TRPC6): c.2574A> C (p.Ile858=) single nucleotide variant Uncertain significance rs751323115 11:101324451-101324451 11:101453720-101453720
29 TRPC6 NM_004621.6(TRPC6): c.2508T> C (p.Ser836=) single nucleotide variant Uncertain significance rs377172208 11:101325809-101325809 11:101455078-101455078
30 TRPC6 NM_004621.6(TRPC6): c.1928T> C (p.Met643Thr) single nucleotide variant Uncertain significance rs773581652 11:101344321-101344321 11:101473590-101473590
31 TRPC6 NM_004621.6(TRPC6): c.-143C> T single nucleotide variant Uncertain significance rs886047539 11:101454377-101454377 11:101583646-101583646
32 TRPC6 NM_004621.6(TRPC6): c.-319del deletion Uncertain significance rs886047541 11:101454553-101454553 11:101583822-101583822
33 TRPC6 NM_004621.6(TRPC6): c.-344C> G single nucleotide variant Uncertain significance rs867713895 11:101454578-101454578 11:101583847-101583847
34 INF2 NM_022489.4(INF2): c.2009A> G (p.Glu670Gly) single nucleotide variant Uncertain significance rs886050381 14:105175677-105175677 14:104709340-104709340
35 TRPC6 NM_004621.6(TRPC6): c.1057C> T (p.Leu353Phe) single nucleotide variant Uncertain significance rs775521973 11:101362358-101362358 11:101491627-101491627
36 TRPC6 NM_004621.6(TRPC6): c.213T> A (p.Val71=) single nucleotide variant Uncertain significance rs138123801 11:101375487-101375487 11:101504756-101504756
37 TRPC6 NM_004621.6(TRPC6): c.-35G> A single nucleotide variant Uncertain significance rs886047538 11:101454269-101454269 11:101583538-101583538
38 TRPC6 NM_004621.6(TRPC6): c.-125C> T single nucleotide variant Uncertain significance rs201034657 11:101454359-101454359 11:101583628-101583628
39 TRPC6 NM_004621.6(TRPC6): c.*1020G> A single nucleotide variant Uncertain significance rs201292926 11:101322666-101322666 11:101451935-101451935
40 INF2 NM_022489.4(INF2): c.*232G> A single nucleotide variant Uncertain significance rs886050384 14:105185362-105185362 14:104719025-104719025
41 CD2AP NM_012120.3(CD2AP): c.*652A> G single nucleotide variant Uncertain significance rs886061537 6:47592615-47592615 6:47624879-47624879
42 CD2AP NM_012120.3(CD2AP): c.*866C> T single nucleotide variant Uncertain significance rs886061539 6:47592829-47592829 6:47625093-47625093
43 CD2AP NM_012120.3(CD2AP): c.*2118T> A single nucleotide variant Uncertain significance rs886061546 6:47594081-47594081 6:47626345-47626345
44 CD2AP NM_012120.3(CD2AP): c.*2232C> T single nucleotide variant Uncertain significance rs886061548 6:47594195-47594195 6:47626459-47626459
45 CD2AP NM_012120.3(CD2AP): c.*2445C> T single nucleotide variant Uncertain significance rs886061550 6:47594408-47594408 6:47626672-47626672
46 CD2AP NM_012120.3(CD2AP): c.*2449C> A single nucleotide variant Uncertain significance rs878891637 6:47594412-47594412 6:47626676-47626676
47 CD2AP NM_012120.3(CD2AP): c.-438C> T single nucleotide variant Uncertain significance rs191920077 6:47445543-47445543 6:47477807-47477807
48 CD2AP NM_012120.3(CD2AP): c.-329C> T single nucleotide variant Uncertain significance rs886061511 6:47445652-47445652 6:47477916-47477916
49 CD2AP NM_012120.3(CD2AP): c.-130C> G single nucleotide variant Uncertain significance rs886061516 6:47445851-47445851 6:47478115-47478115
50 CD2AP NM_012120.3(CD2AP): c.1633-6T> A single nucleotide variant Uncertain significance rs886061522 6:47576853-47576853 6:47609117-47609117

Expression for Focal Segmental Glomerulosclerosis

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

Pathways for Focal Segmental Glomerulosclerosis

GO Terms for Focal Segmental Glomerulosclerosis

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

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 endoplasmic reticulum lumen GO:0005788 9.8 LAMB2 COL4A4 COL4A3 APOL1
2 protein-containing complex GO:0032991 9.73 PAX2 NPHS2 MYH9 CRB2 CD2AP ACTN4
3 basement membrane GO:0005604 9.65 LAMB2 COL4A4 COL4A3
4 brush border GO:0005903 9.63 MYO1E MYH9 ACTN4
5 cell-cell junction GO:0005911 9.62 NPHS2 MYO1E CD2AP ACTN4
6 stress fiber GO:0001725 9.58 SYNPO MYH9 ACTN4
7 cortical cytoskeleton GO:0030863 9.51 MYH9 ACTN4
8 collagen type IV trimer GO:0005587 9.37 COL4A4 COL4A3
9 actomyosin contractile ring GO:0005826 9.16 MYH9 ANLN
10 slit diaphragm GO:0036057 9.13 TRPC6 NPHS2 NPHS1
11 actin cytoskeleton GO:0015629 9.1 SYNPO MYO1E MYH9 CD2AP ANLN ACTN4
12 extracellular exosome GO:0070062 10.09 PTPRO NPHS2 NPHS1 MYO1E MYH9 LAMB2

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 9.58 WT1 PAX2 CDKN1C
3 adrenal gland development GO:0030325 9.54 WT1 CDKN1C
4 myoblast fusion GO:0007520 9.52 NPHS1 MYH9
5 actin filament-based movement GO:0030048 9.51 MYO1E 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 glomerulus development GO:0032835 9.43 WT1 PTPRO
9 metanephric mesenchyme development GO:0072075 9.37 WT1 PAX2
10 glomerular visceral epithelial cell development GO:0072015 9.32 NPHS1 MYO1E
11 glomerular visceral epithelial cell differentiation GO:0072112 9.26 WT1 PTPRO
12 metanephric epithelium development GO:0072207 9.16 WT1 PAX2
13 glomerular basement membrane development GO:0032836 9.02 WT1 NPHS1 MYO1E COL4A4 COL4A3
14 metanephric glomerular visceral epithelial cell development GO:0072249 8.96 NPHS2 LAMB2

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

# Name GO ID Score Top Affiliating Genes
1 extracellular matrix structural constituent GO:0005201 9.43 LAMB2 COL4A4 COL4A3
2 integrin binding GO:0005178 9.26 MYH9 LAMB2 COL4A3 ACTN4
3 actin binding GO:0003779 9.17 TRPC6 SYNPO MYO1E MYH9 INF2 ANLN
4 microfilament motor activity GO:0000146 9.16 MYO1E MYH9

Sources for Focal Segmental Glomerulosclerosis

3 CDC
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10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
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36 IUPHAR
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58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
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73 UMLS via Orphanet
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