FGS
MCID: FCL005
MIFTS: 60

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 38 12 53 37 29 6 15
Familial Idiopathic Steroid-Resistant Nephrotic Syndrome 53 59
Familial Idiopathic Nephrotic Syndrome 53 59
Glomerulosclerosis, Focal Segmental 55 44
Segmental Glomerulosclerosis 53 73
Focal Glomerulosclerosis 12 73
Fsgs 12 53
Focal Segmental Glomerulosclerosis, Not Otherwise Specified 73
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
MeSH 44 D005923
NCIt 50 C37308
SNOMED-CT 68 25821008
Orphanet 59 ORPHA656
ICD10 via Orphanet 34 N04.1 N04.3 N04.8
UMLS via Orphanet 74 C1868672
KEGG 37 H00626

Summaries for Focal Segmental Glomerulosclerosis

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.

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 Angiotensin II and Valsartan have been mentioned in the context of this disorder. Affiliated tissues include Kidney, kidney and bone, and related phenotypes are Decreased viability and Decreased viability

Wikipedia : 76 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 283)
# Related Disease Score Top Affiliating Genes
1 focal segmental glomerulosclerosis 1 34.8 ACTN4 NPHS1
2 nephrotic syndrome, type 1 32.6 ACTN4 CD2AP NPHS1 NPHS2 WT1
3 sporadic idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis 32.5 APOL1 CD2AP NPHS2
4 nephrotic syndrome, type 6 32.2 NPHS1 NPHS2 PTPRO WT1
5 familial idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis 31.8 ACTN4 ANLN CD2AP COL4A3 CRB2 INF2
6 nephrotic syndrome 31.3 ACTN4 CD2AP LAMB2 NPHS1 NPHS2 PTPRO
7 lipoid nephrosis 31.2 CD2AP NPHS1 NPHS2 SYNPO
8 glomerulonephritis 31.0 COL4A3 COL4A4 NPHS1 NPHS2
9 membranous nephropathy 31.0 CD2AP NPHS1 NPHS2
10 alport syndrome, x-linked 30.5 COL4A3 COL4A4 MYH9 MYO1E
11 kidney disease 30.4 ACTN4 CD2AP COL4A3 COL4A4 CRB2 MYH9
12 chronic kidney failure 30.4 ACTN4 MYH9 NPHS1 NPHS2 PAX2 WT1
13 galloway-mowat syndrome 30.2 ACTN4 NPHS1 NPHS2 SYNPO
14 frasier syndrome 30.2 ACTN4 CD2AP NPHS1 NPHS2 WT1
15 crescentic glomerulonephritis 30.2 NPHS2 PTPRO SYNPO WT1
16 alport syndrome, autosomal recessive 30.2 COL4A3 COL4A4 MYH9
17 familial nephrotic syndrome 30.1 ACTN4 CD2AP CRB2 NPHS1 NPHS2 TRPC6
18 nephrosclerosis 30.0 NPHS1 NPHS2 SYNPO
19 wilms tumor 1 29.9 CDKN1C NPHS1 NPHS2 PAX2 PTPRO SYNPO
20 focal segmental glomerulosclerosis 2 12.8
21 focal segmental glomerulosclerosis 5 12.8
22 focal segmental glomerulosclerosis 7 12.8
23 focal segmental glomerulosclerosis 3 12.8
24 focal segmental glomerulosclerosis 6 12.8
25 focal segmental glomerulosclerosis 9 12.8
26 focal segmental glomerulosclerosis 4 12.8
27 focal segmental glomerulosclerosis 8 12.8
28 fg syndrome 4 12.6
29 fg syndrome 2 12.5
30 opitz-kaveggia syndrome 12.5
31 fg syndrome 3 12.1
32 fg syndrome 5 12.1
33 c1q nephropathy 11.8
34 coenzyme q10 deficiency, primary, 6 11.5
35 x-linked intellectual disability with or without nystagmus 11.5
36 nephrotic syndrome, type 4 11.4
37 nephrotic syndrome, type 2 11.4
38 nephrotic syndrome, type 3 11.4
39 nephrotic syndrome, type 9 11.4
40 nephrotic syndrome, type 12 11.4
41 nephrotic syndrome, type 14 11.4
42 nephropathy, progressive, with deafness 11.4
43 idiopathic steroid-sensitive nephrotic syndrome with focal segmental hyalinosis 11.4
44 nephrotic syndrome, type 5, with or without ocular abnormalities 11.3
45 nephrotic syndrome, type 10 11.3
46 nephrotic syndrome, type 11 11.3
47 nephrotic syndrome, type 13 11.3
48 nephrotic syndrome, type 15 11.3
49 nephrotic syndrome, type 16 11.3
50 nephrotic syndrome, idiopathic, steroid-resistant 11.2

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 COL4A3
8 no effect GR00402-S-1 9.62 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 10.03 ACTN4 CD2AP COL4A3 COL4A4 CRB2 LAMB2
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 131)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Angiotensin II Approved, Investigational Phase 4,Phase 3,Phase 2,Not Applicable 11128-99-7, 68521-88-0, 4474-91-3 172198 65143
2
Valsartan Approved, Investigational Phase 4 137862-53-4 60846
3 Hormones Phase 4,Phase 3,Phase 2,Not Applicable
4 Hormone Antagonists Phase 4,Phase 3,Phase 2,Not Applicable
5 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 4,Phase 3,Phase 2,Not Applicable
6 beta-endorphin Phase 4,Phase 3
7 Melanocyte-Stimulating Hormones Phase 4,Phase 3
8 Adrenocorticotropic Hormone Phase 4,Phase 3
9 Immunoglobulin A Phase 4,Phase 2,Not Applicable
10 Antihypertensive Agents Phase 4,Phase 3,Phase 2,Not Applicable
11 Angiotensin II Type 1 Receptor Blockers Phase 4,Phase 3,Phase 2,Not Applicable
12 Angiotensinogen Phase 4,Phase 3,Phase 2,Not Applicable
13 Angiotensin Receptor Antagonists Phase 4,Phase 3,Phase 2,Not Applicable
14
Mycophenolic acid Approved Phase 3,Phase 2,Not Applicable 24280-93-1 446541
15
Prednisone Approved, Vet_approved Phase 3,Phase 2,Not Applicable 53-03-2 5865
16
Miconazole Approved, Investigational, Vet_approved Phase 3,Phase 2 22916-47-8 4189
17
Dexamethasone acetate Approved, Investigational, Vet_approved Phase 3,Phase 2 1177-87-3
18
Dexamethasone Approved, Investigational, Vet_approved Phase 3,Phase 2 50-02-2 5743
19
Methylprednisolone Approved, Vet_approved Phase 3,Phase 2 83-43-2 6741
20
Methylprednisolone hemisuccinate Approved Phase 3,Phase 2 2921-57-5
21
Prednisolone Approved, Vet_approved Phase 3,Phase 2 50-24-8 5755
22
Chlorambucil Approved Phase 3 305-03-3 2708
23
Prednisolone phosphate Approved, Vet_approved Phase 3,Phase 2 302-25-0
24
rituximab Approved Phase 3,Phase 2 174722-31-7 10201696
25
Irbesartan Approved, Investigational Phase 3,Phase 2 138402-11-6 3749
26
Valproic Acid Approved, Investigational Phase 2, Phase 3 99-66-1 3121
27
Prednisolone hemisuccinate Experimental Phase 3,Phase 2 2920-86-7
28 Anti-Inflammatory Agents Phase 3,Phase 2,Phase 1,Not Applicable
29 Immunosuppressive Agents Phase 3,Phase 2,Phase 1,Not Applicable
30 Calcineurin Inhibitors Phase 3,Phase 2,Not Applicable
31 glucocorticoids Phase 3,Phase 2,Not Applicable
32 Antineoplastic Agents, Hormonal Phase 3,Phase 2,Not Applicable
33 Immunologic Factors Phase 3,Phase 2,Phase 1,Not Applicable
34 HIV Protease Inhibitors Phase 3,Phase 2
35 Peripheral Nervous System Agents Phase 3,Phase 2
36 Autonomic Agents Phase 3,Phase 2
37 BB 1101 Phase 3,Phase 2
38 Anti-Infective Agents Phase 3,Phase 2,Not Applicable
39
protease inhibitors Phase 3,Phase 2
40 Antifungal Agents Phase 3,Phase 2
41 Dermatologic Agents Phase 3,Phase 2
42 Cyclosporins Phase 3,Phase 2
43 Antirheumatic Agents Phase 3,Phase 2,Phase 1,Not Applicable
44 Gastrointestinal Agents Phase 3,Phase 2,Not Applicable
45 Antiemetics Phase 3,Phase 2
46 Alkylating Agents Phase 3,Phase 1,Phase 2,Not Applicable
47 Antibiotics, Antitubercular Phase 3,Phase 2
48 Antitubercular Agents Phase 3,Phase 2
49 Methylprednisolone acetate Phase 3,Phase 2
50 Protective Agents Phase 3,Phase 2

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 Treating to Reduce Albuminuria and Normalize Hemodynamic Function in Focal ScLerosis With dApagliflozin Trial Effects Completed NCT02585804 Phase 4 Dapagliflozin
3 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 FSGS Recruiting NCT02633046 Phase 4 Acthar 80 U 2x/week;Acthar 80 U 3x/week
5 Aldosterone Breakthrough During Diovan, Tekturna, and Combination Therapy in Patients With Proteinuric Kidney Disease Terminated NCT01129557 Phase 4 Aliskiren;Valsartan
6 Focal Segmental Glomerulosclerosis Clinical Trial (FSGS-CT) Completed NCT00135811 Phase 3 Cyclosporin;MMF and Dexamethasone
7 Mycophenolate Mofetil in Membranous Nephropathy and Focal Segmental Completed NCT00404833 Phase 3 prednisolone and mycophenolate mofetil;prednisolone and chlorambucil
8 Rituximab in Multirelapsing Minimal Change Disease (MCD) or Focal Segmental Glomerulosclerosis (FSGS) Completed NCT00981838 Phase 3 Rituximab
9 Efficacy of Rituximab For the Treatment of Calcineurin Inhibitors Dependent Nephrotic Syndrome During Childhood Completed NCT01268033 Phase 2, Phase 3 Rituximab;Placebo
10 Steroid Treatment for Kidney Disease Completed NCT00065611 Phase 3 Oral dexamethasone
11 Study of Sparsentan in FSGS Recruiting NCT03493685 Phase 3 sparsentan;irbesartan
12 Efficacy of Rituximab in Comparison to Continued Corticosteroid Treatment in Idiopathic Nephrotic Syndrome Recruiting NCT03298698 Phase 3 Rituximab;Prednisone
13 Use of Acthar in Patients With FSGS That Will be Undergoing Renal Transplantation Recruiting NCT02683889 Phase 3 Acthar
14 Valproic Acid for Idiopathic Nephrotic Syndrome Recruiting NCT02896270 Phase 2, Phase 3 Valproic Acid
15 Rituximab to Prevent Recurrence of Proteinuria Terminated NCT01164098 Phase 3 Rituximab
16 Rituximab Treatment of Focal Segmental Glomerulosclerosis Completed NCT00550342 Phase 2 rituximab
17 A Phase II, Repeat Dose, Proof of Mechanism Study of Losmapimod to Reduce Proteinuria in Patients With Focal Segmental Glomerulosclerosis (FSGS) Completed NCT02000440 Phase 2 Losmapimod
18 Permeability Factor in Focal Segmental Glomerulosclerosis Completed NCT00007475 Phase 1, Phase 2 Cyclophosphamide
19 Sirolimus for Focal Segmental Glomerulosclerosis Completed NCT00040508 Phase 2 Sirolimus
20 A Study of Fresolimumab in Patients With Steroid-Resistant Primary Focal Segmental Glomerulosclerosis (FSGS) Completed NCT01665391 Phase 2 fresolimumab;fresolimumab;Placebo
21 Novel Therapies for Resistant FSGS (FONTII): Phase II Clinical Trial Completed NCT00814255 Phase 2 Adalimumab;Lisinopril, losartan, and atorvastatin;galactose
22 Pirfenidone to Treat Kidney Disease (Focal Segmental Glomerulosclerosis) Completed NCT00001959 Phase 2 Pirfenidone
23 Once-A-Month Steroid Treatment for Patients With Focal Segmental Glomerulosclerosis Completed NCT00004990 Phase 2 Dexamethasone
24 Podocyte Retinoids Completed NCT00098020 Phase 2 Isotretinoin
25 Dose-Exploration Evaluating the Efficacy and Safety of Voclosporin in Subjects With Focal Segmental Glomerulosclerosis Recruiting NCT03598036 Phase 2 Voclosporin
26 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
27 Safety and Effectiveness of Propagermanium in Focal Segmental Glomerulosclerosis Participants Receiving Irbesartan Recruiting NCT03649152 Phase 2 Propagermanium;Placebo
28 FIRSTx - A Study of Oral CXA-10 in Primary Focal Segmental Glomerulosclerosis (FSGS) Recruiting NCT03422510 Phase 2 CXA-10
29 Trial To Evaluate PF-06730512 In Adults With Primary Focal Segmental Glomerulosclerosis Recruiting NCT03448692 Phase 2 PF-06730512
30 Pilot Study to Evaluate the Safety and Efficacy of Abatacept in Adults and Children 6 Years and Older With Excessive Loss of Protein in the Urine Due to Either Focal Segmental Glomerulosclerosis (FSGS) or Minimal Change Disease (MCD) Recruiting NCT02592798 Phase 2 Abatacept
31 A Study of CCX140-B in Subjects With Primary FSGS and Nephrotic Syndrome Recruiting NCT03703908 Phase 2 CCX140-B
32 A Study of CCX140-B in Subjects With FSGS Recruiting NCT03536754 Phase 2 CCX140-B
33 A Phase 2 Trial of the Safety and Efficacy of Bardoxolone Methyl in Patients With Rare Chronic Kidney Diseases - PHOENIX Recruiting NCT03366337 Phase 2 Bardoxolone methyl capsules
34 Randomized, Double-Blind, Safety and Efficacy Study of RE-021 (Sparsentan) in Focal Segmental Glomerulosclerosis Active, not recruiting NCT01613118 Phase 2 RE-021 (Sparsentan);Irbesartan
35 A Pilot Study to Assess the Efficacy of Rituximab Therapy in Treatment Resistant FSGS Active, not recruiting NCT01573533 Phase 2
36 PRI-VENT FSGS: Preemptive Rituximab to Prevent Recurrent Focal Segmental Glomerulosclerosis Post-Transplant Not yet recruiting NCT03763643 Phase 1, Phase 2 Rituximab;Placebo
37 Allogenic AD-MSC Transplantation in Idiopathic Nephrotic Syndrome (Focal Segmental Glomerulosclerosis) Unknown status NCT02382874 Phase 1
38 Safety Study of GC1008 in Patients With Focal Segmental Glomerulosclerosis (FSGS) of Single Doses of GC1008 in Patients With Treatment Resistant Idiopathic FSGS Completed NCT00464321 Phase 1
39 Total Lymphoid Irradiation (TLI) to Prevent Focal Segmental Glomerulosclerosis (FSGS)Recurrence in the Renal Graft Completed NCT00353535 Phase 1
40 Pilot Studies of Novel Therapies to Treat Resistant Focal Segmental Glomerulosclerosis (FSGS) Completed NCT00193648 Phase 1 Rosiglitazone (Avandia);Adalimumab (Humira)
41 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)
42 Stem Cell Therapy for Patients With Focal Segmental Glomerulosclerosis Active, not recruiting NCT02693366 Phase 1
43 Safety and Pharmacokinetics of FG-3019 in Adolescents and Adults With Focal Segmental Glomerulosclerosis (FSGS) Terminated NCT00782561 Phase 1 FG-3019
44 Effect of Oral Galactose on Focal Segmental Glomerulosclerosis (FSGS) Permeability Factor Terminated NCT00816478 Phase 1 Galactose
45 Effect of Galactose on Permeblity Factor in Patients With FSGS and CKD Stage 5 Withdrawn NCT00816504 Phase 1 Galactose
46 Therapeutic Effect of Low-dose Prednisone Combined With MMF and FK506 in Focal Segmental Glomerulosclerosis Unknown status NCT00956059 Not Applicable prednisone, FK506, MMF;prednisone
47 Predictors of Disease Progression in Primary Focal Segmental Glomerulosclerosis Completed NCT03126201
48 Prednisone Plus Tripterygium Wilfordii Treatment of Adult Patients With Idiopathic Focal Segmental Glomerulosclerosis Completed NCT00801463 Not Applicable tripterygium wilfordii (TW)
49 Oral Galactose in Children With Steroid Resistant Nephrotic Syndrome Completed NCT01113385 Not Applicable D-Galactose
50 Regional Citrate Anticoagulation in Plasma Exchange Treatment Completed NCT01370200 Not Applicable

Search NIH Clinical Center for Focal Segmental Glomerulosclerosis

Inferred drug relations via UMLS 73 / NDF-RT 51 :


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, Bone, Myeloid, Lung, Bone Marrow, Endothelial, B 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 1044)
# Title Authors Year
1
Protecting Podocytes: A Key Target for Therapy of Focal Segmental Glomerulosclerosis. ( 29852493 )
2018
2
Successful management of recurrent focal segmental glomerulosclerosis. ( 29962080 )
2018
3
CCR2 antagonism leads to marked reduction in proteinuria and glomerular injury in murine models of focal segmental glomerulosclerosis (FSGS). ( 29561839 )
2018
4
De novo CMV-associated collapsing focal segmental glomerulosclerosis in a kidney transplant recipient. ( 29570919 )
2018
5
ACTH Gel in Resistant Focal Segmental Glomerulosclerosis after Kidney Transplantation. ( 29894413 )
2018
6
Focal segmental glomerulosclerosis in children complicated by posterior reversible encephalopathy syndrome. ( 29310486 )
2018
7
Recent advances of animal model of focal segmental glomerulosclerosis. ( 29556761 )
2018
8
The Spectrum of Focal Segmental Glomerulosclerosis from Eastern India: Is It Different? ( 29962672 )
2018
9
<i>Strongyloides stercoralis</i> -Associated Tip Variant Focal Segmental Glomerulosclerosis. ( 29340309 )
2018
10
Glucocorticoids in the treatment of patients with primary focal segmental glomerulosclerosis and moderate proteinuria. ( 29761241 )
2018
11
Focal segmental glomerulosclerosis in a patient with prefibrotic primary myelofibrosis. ( 29728434 )
2018
12
Should antiviral monotherapy with nucleotide analogs be the primary treatment option for focal segmental glomerulosclerosis-related nephrotic syndrome in chronic hepatitis B infection? ( 29970751 )
2018
13
A mutation in transcription factor MAFB causes Focal Segmental Glomerulosclerosis with Duane Retraction Syndrome. ( 29779709 )
2018
14
The mechanical challenges and cytoskeletal impairments in focal segmental glomerulosclerosis. ( 29363327 )
2018
15
Focal segmental glomerulosclerosis with heterozygous apolipoprotein E5 (Glu3Lys). ( 29740794 )
2018
16
BehAset's syndrome and focal segmental glomerulosclerosis with nephrotic syndrome - successful treatment with etanercepta8c. ( 29292692 )
2018
17
Clinical Significance of Urinary Biomarkers in Patients With Primary Focal Segmental Glomerulosclerosis. ( 29661344 )
2018
18
Clinical and pathological phenotype of genetic causes of focal segmental glomerulosclerosis in adults. ( 29644057 )
2018
19
Can Focal Segmental Glomerulosclerosis Be Differentiated From Minimal Change Nephrotic Syndrome Using Biomarkers? ( 29661342 )
2018
20
Treatment of recurrent focal segmental glomerulosclerosis post-kidney transplantation in Australian and New Zealand children: A retrospective cohort study. ( 29676031 )
2018
21
Heterozygous <i>COL4A3</i> Variants in Histologically Diagnosed Focal Segmental Glomerulosclerosis. ( 29946535 )
2018
22
Molecular Mechanisms of Proteinuria in Focal Segmental Glomerulosclerosis. ( 29713631 )
2018
23
Plasma microRNA panel is a novel biomarker for focal segmental glomerulosclerosis and associated with podocyte apoptosis. ( 29748623 )
2018
24
Preoperative Low-Density Lipoprotein Apheresis for Preventing Recurrence of Focal Segmental Glomerulosclerosis after Kidney Transplantation. ( 29808114 )
2018
25
Hydroxypropyl-β-cyclodextrin protects from kidney disease in experimental Alport syndrome and focal segmental glomerulosclerosis. ( 30301568 )
2018
26
Early Focal Segmental Glomerulosclerosis as a Cause of Delayed Graft Function With Combined Acute Antibody Rejection: A Case Report. ( 30316402 )
2018
27
Intravenous Rituximab in Severe Refractory Primary Focal Segmental Glomerulosclerosis. ( 30333274 )
2018
28
Focal segmental glomerulosclerosis lesion associated with inhibition of tyrosine kinases by lenvatinib: a case report. ( 30340546 )
2018
29
Intravascular lymphoma forming massive aortic tumors complicated with sarcoidosis and focal segmental glomerulosclerosis: a case report and literature review. ( 30373554 )
2018
30
The long noncoding RNA LOC105374325 causes podocyte injury in individuals with focal segmental glomerulosclerosis. ( 30389788 )
2018
31
Generation of two isogenic iPS cell lines (IRFMNi002-A and IRFMNi002-B) from a patient affected by Focal Segmental Glomerulosclerosis carrying a heterozygous c.565G>A mutation in PAX2 gene. ( 30399566 )
2018
32
A Case of Lenvatinib-Induced Focal Segmental Glomerulosclerosis (FSGS) in Metastatic Medullary Thyroid Cancer. ( 30402314 )
2018
33
Successful recovery of associated interstitial nephritis and focal segmental glomerulosclerosis in patients with HCV and HIV treated with sofosbuvir and daclatasvir and revision of literature. ( 30406000 )
2018
34
Apolipoprotein A-Ib as a biomarker of focal segmental glomerulosclerosis recurrence after kidney transplantation: diagnostic performance and assessment of its prognostic value - a multi-centre cohort study. ( 30411406 )
2018
35
New Mutation of Coenzyme Q10 Monooxygenase 6 Causing Podocyte Injury in a Focal Segmental Glomerulosclerosis Patient. ( 30425193 )
2018
36
Serum Metabolic Profiling in a Mouse Model of Adriamycin-Induced Focal Segmental Glomerulosclerosis. ( 30425202 )
2018
37
A Novel CLCN5 Mutation Associated With Focal Segmental Glomerulosclerosis and Podocyte Injury. ( 30426109 )
2018
38
Bone marrow mesenchymal stem cells attenuate the progression of focal segmental glomerulosclerosis in rat models. ( 30466397 )
2018
39
First identification of PODXL nonsense mutations in autosomal dominant focal segmental glomerulosclerosis. ( 30523047 )
2018
40
Inflammatory demyelinating neuropathies with focal segmental glomerulosclerosis: Two case reports. ( 30544390 )
2018
41
Treatment by immunoadsorption for recurrent focal segmental glomerulosclerosis after paediatric kidney transplantation: a multicentre French cohort. ( 28992235 )
2018
42
Mutations in INF2 may be associated with renal histology other than focal segmental glomerulosclerosis. ( 29038887 )
2018
43
Renal Artery Embolization for the Treatment of Refractory Proteinuria in Three Pediatric Patients with Focal Segmental Glomerulosclerosis. ( 29258656 )
2018
44
Alport's syndrome with focal segmental glomerulosclerosis lesion - Pattern to recognize. ( 29456224 )
2018
45
Comment to: Focal segmental glomerulosclerosis associated with mitochondrial disease by Lim et al. in Clin Nephrol Case Stud. 2017; 5: 20-25. ( 29457800 )
2018
46
APOL1 risk genotype in European steroid-resistant nephrotic syndrome and/or focal segmental glomerulosclerosis patients of different African ancestries. ( 29992269 )
2018
47
Case of human immunodeficiency virus infection presenting as a tip variant of focal segmental glomerulosclerosis: A case report and review of the literature. ( 30090707 )
2018
48
JAK-STAT signaling is activated in the kidney and peripheral blood cells of patients with focal segmental glomerulosclerosis. ( 30093081 )
2018
49
Multiple Myeloma in a Patient with Focal Segmental Glomerulosclerosis: A Case Report. ( 30100602 )
2018
50
Mutational screening of inverted formin 2 in adult-onset focal segmental glomerulosclerosis or minimal change patients from the Czech Republic. ( 30126379 )
2018

Variations for Focal Segmental Glomerulosclerosis

ClinVar genetic disease variations for Focal Segmental Glomerulosclerosis:

6 (show top 50) (show all 486)
# Gene Variation Type Significance SNP ID Assembly Location
1 WT1 NM_024426.5(WT1): c.1447+5G> A single nucleotide variant Pathogenic rs587776576 GRCh38 Chromosome 11, 32391967: 32391967
2 WT1 NM_024426.5(WT1): c.1447+5G> A single nucleotide variant Pathogenic rs587776576 GRCh37 Chromosome 11, 32413513: 32413513
3 WT1 NM_024426.4(WT1): c.1432+4C> T single nucleotide variant Pathogenic rs587776577 GRCh38 Chromosome 11, 32391968: 32391968
4 WT1 NM_024426.4(WT1): c.1432+4C> T single nucleotide variant Pathogenic rs587776577 GRCh37 Chromosome 11, 32413514: 32413514
5 SMARCAL1 NM_014140.3(SMARCAL1): c.2542G> T (p.Glu848Ter) single nucleotide variant Pathogenic rs119473033 GRCh37 Chromosome 2, 217342939: 217342939
6 SMARCAL1 NM_014140.3(SMARCAL1): c.2542G> T (p.Glu848Ter) single nucleotide variant Pathogenic rs119473033 GRCh38 Chromosome 2, 216478216: 216478216
7 NXF5 NM_032946.2(NXF5): c.337C> T (p.Arg113Trp) single nucleotide variant Uncertain significance rs199849270 GRCh37 Chromosome X, 101096287: 101096287
8 NXF5 NM_032946.2(NXF5): c.337C> T (p.Arg113Trp) single nucleotide variant Uncertain significance rs199849270 GRCh38 Chromosome X, 101841315: 101841315
9 ALG13 NM_018466.5(ALG13): c.421_422delACinsTT (p.Thr141Leu) indel Uncertain significance rs397518473 GRCh37 Chromosome X, 110931152: 110931153
10 ALG13 NM_018466.5(ALG13): c.421_422delACinsTT (p.Thr141Leu) indel Uncertain significance rs397518473 GRCh38 Chromosome X, 111687924: 111687925
11 NPHS1 NM_004646.3(NPHS1): c.3173C> T (p.Ser1058Leu) single nucleotide variant Uncertain significance rs201503587 GRCh37 Chromosome 19, 36322658: 36322658
12 NPHS1 NM_004646.3(NPHS1): c.3173C> T (p.Ser1058Leu) single nucleotide variant Uncertain significance rs201503587 GRCh38 Chromosome 19, 35831756: 35831756
13 LAMB2 NM_002292.3(LAMB2): c.1682G> A (p.Arg561Gln) single nucleotide variant Uncertain significance rs866448113 GRCh38 Chromosome 3, 49129069: 49129069
14 LAMB2 NM_002292.3(LAMB2): c.1682G> A (p.Arg561Gln) single nucleotide variant Uncertain significance rs866448113 GRCh37 Chromosome 3, 49166502: 49166502
15 WT1 NM_024426.4(WT1): c.1250G> T (p.Gly417Val) single nucleotide variant Likely pathogenic rs869025561 GRCh37 Chromosome 11, 32414301: 32414301
16 WT1 NM_024426.4(WT1): c.1250G> T (p.Gly417Val) single nucleotide variant Likely pathogenic rs869025561 GRCh38 Chromosome 11, 32392755: 32392755
17 NPHS1 NM_004646.3(NPHS1): c.2398C> T (p.Arg800Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs114896482 GRCh38 Chromosome 19, 35842487: 35842487
18 NPHS1 NM_004646.3(NPHS1): c.2398C> T (p.Arg800Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs114896482 GRCh37 Chromosome 19, 36333389: 36333389
19 NPHS1 NM_004646.3(NPHS1): c.528T> C (p.Ser176=) single nucleotide variant Uncertain significance rs539716201 GRCh38 Chromosome 19, 35850444: 35850444
20 NPHS1 NM_004646.3(NPHS1): c.528T> C (p.Ser176=) single nucleotide variant Uncertain significance rs539716201 GRCh37 Chromosome 19, 36341346: 36341346
21 TRPC6 NM_004621.5(TRPC6): c.2142G> T (p.Thr714=) single nucleotide variant drug response rs145077205 GRCh38 Chromosome 11, 101472200: 101472200
22 TRPC6 NM_004621.5(TRPC6): c.2142G> T (p.Thr714=) single nucleotide variant drug response rs145077205 GRCh37 Chromosome 11, 101342931: 101342931
23 INF2 NM_022489.3(INF2): c.1360C> T (p.Leu454Phe) single nucleotide variant Conflicting interpretations of pathogenicity rs545495465 GRCh38 Chromosome 14, 104707627: 104707627
24 INF2 NM_022489.3(INF2): c.1360C> T (p.Leu454Phe) single nucleotide variant Conflicting interpretations of pathogenicity rs545495465 GRCh37 Chromosome 14, 105173964: 105173964
25 INF2 NM_022489.3(INF2): c.3221G> A (p.Arg1074Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs201445955 GRCh38 Chromosome 14, 104714383: 104714383
26 INF2 NM_022489.3(INF2): c.3221G> A (p.Arg1074Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs201445955 GRCh37 Chromosome 14, 105180720: 105180720
27 CD2AP NM_012120.2(CD2AP): c.219A> G (p.Glu73=) single nucleotide variant Benign/Likely benign rs7749045 GRCh38 Chromosome 6, 47533655: 47533655
28 CD2AP NM_012120.2(CD2AP): c.219A> G (p.Glu73=) single nucleotide variant Benign/Likely benign rs7749045 GRCh37 Chromosome 6, 47501391: 47501391
29 CD2AP NM_012120.2(CD2AP): c.696C> T (p.Ser232=) single nucleotide variant Benign/Likely benign rs140627775 GRCh38 Chromosome 6, 47574218: 47574218
30 CD2AP NM_012120.2(CD2AP): c.696C> T (p.Ser232=) single nucleotide variant Benign/Likely benign rs140627775 GRCh37 Chromosome 6, 47541954: 47541954
31 CD2AP NM_012120.2(CD2AP): c.809-11C> A single nucleotide variant Benign/Likely benign rs76153148 GRCh38 Chromosome 6, 47576998: 47576998
32 CD2AP NM_012120.2(CD2AP): c.809-11C> A single nucleotide variant Benign/Likely benign rs76153148 GRCh37 Chromosome 6, 47544734: 47544734
33 CD2AP NM_012120.2(CD2AP): c.1120A> G (p.Thr374Ala) single nucleotide variant Benign/Likely benign rs138727736 GRCh37 Chromosome 6, 47563608: 47563608
34 CD2AP NM_012120.2(CD2AP): c.1120A> G (p.Thr374Ala) single nucleotide variant Benign/Likely benign rs138727736 GRCh38 Chromosome 6, 47595872: 47595872
35 CD2AP NM_012120.2(CD2AP): c.1204C> T (p.Leu402=) single nucleotide variant Benign rs2039503 GRCh38 Chromosome 6, 47595956: 47595956
36 CD2AP NM_012120.2(CD2AP): c.1204C> T (p.Leu402=) single nucleotide variant Benign rs2039503 GRCh37 Chromosome 6, 47563692: 47563692
37 CD2AP NM_012120.2(CD2AP): c.1632+8G> T single nucleotide variant Benign/Likely benign rs77917916 GRCh38 Chromosome 6, 47608036: 47608036
38 CD2AP NM_012120.2(CD2AP): c.1632+8G> T single nucleotide variant Benign/Likely benign rs77917916 GRCh37 Chromosome 6, 47575772: 47575772
39 CD2AP NM_012120.2(CD2AP): c.1898A> G (p.Lys633Arg) single nucleotide variant Benign/Likely benign rs116754410 GRCh37 Chromosome 6, 47591941: 47591941
40 CD2AP NM_012120.2(CD2AP): c.1898A> G (p.Lys633Arg) single nucleotide variant Benign/Likely benign rs116754410 GRCh38 Chromosome 6, 47624205: 47624205
41 TRPC6 NM_004621.5(TRPC6): c.2712G> A (p.Gln904=) single nucleotide variant Benign rs12805398 GRCh38 Chromosome 11, 101453039: 101453039
42 TRPC6 NM_004621.5(TRPC6): c.2712G> A (p.Gln904=) single nucleotide variant Benign rs12805398 GRCh37 Chromosome 11, 101323770: 101323770
43 TRPC6 NM_004621.5(TRPC6): c.2529C> T (p.Phe843=) single nucleotide variant Benign rs72984209 GRCh38 Chromosome 11, 101455057: 101455057
44 TRPC6 NM_004621.5(TRPC6): c.2529C> T (p.Phe843=) single nucleotide variant Benign rs72984209 GRCh37 Chromosome 11, 101325788: 101325788
45 TRPC6 NM_004621.5(TRPC6): c.2142G> A (p.Thr714=) single nucleotide variant Likely benign rs145077205 GRCh38 Chromosome 11, 101472200: 101472200
46 TRPC6 NM_004621.5(TRPC6): c.2142G> A (p.Thr714=) single nucleotide variant Likely benign rs145077205 GRCh37 Chromosome 11, 101342931: 101342931
47 TRPC6 NM_004621.5(TRPC6): c.2115C> T (p.Tyr705=) single nucleotide variant Benign rs61743044 GRCh37 Chromosome 11, 101342958: 101342958
48 TRPC6 NM_004621.5(TRPC6): c.2115C> T (p.Tyr705=) single nucleotide variant Benign rs61743044 GRCh38 Chromosome 11, 101472227: 101472227
49 TRPC6 NM_004621.5(TRPC6): c.1818T> C (p.Ser606=) single nucleotide variant Likely benign rs139187399 GRCh38 Chromosome 11, 101473700: 101473700
50 TRPC6 NM_004621.5(TRPC6): c.1818T> C (p.Ser606=) single nucleotide variant Likely benign rs139187399 GRCh37 Chromosome 11, 101344431: 101344431

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

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 CDKN1C MYO1E WT1
2 camera-type eye development GO:0043010 9.58 CDKN1C PAX2 WT1
3 adrenal gland development GO:0030325 9.54 CDKN1C WT1
4 myoblast fusion GO:0007520 9.52 MYH9 NPHS1
5 actin filament-based movement GO:0030048 9.51 MYH9 MYO1E
6 regulation of exit from mitosis GO:0007096 9.48 ANLN CDKN1C
7 glomerulus development GO:0032835 9.46 PTPRO WT1
8 mesenchymal to epithelial transition GO:0060231 9.43 PAX2 WT1
9 glomerular visceral epithelial cell development GO:0072015 9.37 MYO1E NPHS1
10 metanephric mesenchyme development GO:0072075 9.32 PAX2 WT1
11 glomerular visceral epithelial cell differentiation GO:0072112 9.26 PTPRO WT1
12 metanephric epithelium development GO:0072207 9.16 PAX2 WT1
13 glomerular basement membrane development GO:0032836 9.02 COL4A3 COL4A4 MYO1E NPHS1 WT1
14 metanephric glomerular visceral epithelial cell development GO:0072249 8.96 LAMB2 NPHS2

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 COL4A3 COL4A4 LAMB2
2 integrin binding GO:0005178 9.26 ACTN4 COL4A3 LAMB2 MYH9
3 actin binding GO:0003779 9.17 ACTN4 ANLN INF2 MYH9 MYO1E SYNPO
4 microfilament motor activity GO:0000146 9.16 MYH9 MYO1E

Sources for Focal Segmental Glomerulosclerosis

3 CDC
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10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
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30 HGMD
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69 SNOMED-CT via HPO
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