MCID: FCL005
MIFTS: 60

Focal Segmental Glomerulosclerosis

Categories: Rare diseases, Genetic diseases, Nephrological diseases

Aliases & Classifications for Focal Segmental Glomerulosclerosis

MalaCards integrated aliases for Focal Segmental Glomerulosclerosis:

Name: Focal Segmental Glomerulosclerosis 37 12 49 36 28 14
Familial Idiopathic Steroid-Resistant Nephrotic Syndrome 49 55 28
Familial Idiopathic Nephrotic Syndrome 49 55
Glomerulosclerosis, Focal Segmental 51 41
Segmental Glomerulosclerosis 49 69
Focal Glomerulosclerosis 12 69
Fsgs 12 49
Focal Segmental Glomerulosclerosis, Not Otherwise Specified 69
Focal Sclerosis with Hyalinosis 49
Focal Glomerular Sclerosis 12
Glomerulosclerosis, Focal 49
Glomerulosclerosis Focal 51
Fgs 12

Characteristics:

Orphanet epidemiological data:

55
familial idiopathic steroid-resistant nephrotic syndrome
Inheritance: Autosomal dominant,Autosomal recessive; Age of onset: All ages;

Classifications:

Orphanet: 55  
Rare renal diseases


External Ids:

Disease Ontology 12 DOID:1312
MeSH 41 D005923
NCIt 46 C37308
SNOMED-CT 64 236403004 25821008
Orphanet 55 ORPHA656
UMLS via Orphanet 70 C1868672
ICD10 via Orphanet 33 N04.1 N04.3 N04.8
KEGG 36 H00626

Summaries for Focal Segmental Glomerulosclerosis

NIH Rare Diseases : 49 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. Last updated: 11/4/2015

MalaCards based summary : Focal Segmental Glomerulosclerosis, also known as familial idiopathic steroid-resistant nephrotic syndrome, is related to familial idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial proliferation and familial idiopathic steroid-resistant nephrotic syndrome with minimal changes. An important gene associated with Focal Segmental Glomerulosclerosis is NPHS2 (NPHS2, Podocin), and among its related pathways/superpathways are Amoebiasis and Small cell lung cancer. 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 cardiovascular system and mortality/aging

Wikipedia : 72 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 230)
# Related Disease Score Top Affiliating Genes
1 familial idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial proliferation 34.4 NPHS1 PTPRO
2 familial idiopathic steroid-resistant nephrotic syndrome with minimal changes 34.3 NPHS1 NPHS2 PTPRO
3 familial idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial sclerosis 34.3 NPHS1 PTPRO WT1
4 focal segmental glomerulosclerosis 1 33.2 ACTN4 ANLN CD2AP COL4A3 CRB2 INF2
5 sporadic idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis 32.6 APOL1 CD2AP NPHS2
6 nephrotic syndrome, type 1 32.5 ACTN4 CD2AP NPHS1 NPHS2 WT1
7 membranous nephropathy 31.1 CD2AP NPHS1 NPHS2
8 glomerulonephritis 30.7 COL4A3 COL4A4 NPHS1 NPHS2
9 nephrotic syndrome 30.7 ACTN4 CD2AP LAMB2 NPHS1 NPHS2 PTPRO
10 wilms tumor 5 30.4 CDKN1C PAX2 SYNPO WT1
11 alport syndrome, x-linked 30.4 COL4A3 COL4A4 MYO1E
12 crescentic glomerulonephritis 30.1 NPHS2 PTPRO SYNPO WT1
13 frasier syndrome 30.1 ACTN4 CD2AP NPHS1 NPHS2 WT1
14 galloway-mowat syndrome 30.0 ACTN4 LAMB2 NPHS1 NPHS2 SYNPO
15 familial nephrotic syndrome 30.0 ACTN4 CD2AP NPHS1 NPHS2 TRPC6 WT1
16 kidney disease 29.9 ACTN4 CD2AP COL4A3 COL4A4 CRB2 NPHS1
17 focal segmental glomerulosclerosis 2 12.6
18 focal segmental glomerulosclerosis 5 12.6
19 focal segmental glomerulosclerosis 7 12.6
20 focal segmental glomerulosclerosis 3 12.6
21 focal segmental glomerulosclerosis 6 12.6
22 focal segmental glomerulosclerosis 4 12.6
23 focal segmental glomerulosclerosis 8 12.6
24 focal segmental glomerulosclerosis 9 12.6
25 fg syndrome 4 12.5
26 fg syndrome 2 12.4
27 opitz-kaveggia syndrome 12.3
28 fg syndrome 3 12.1
29 fg syndrome 5 12.1
30 nephrotic syndrome, type 2 11.6
31 c1q nephropathy 11.6
32 coenzyme q10 deficiency, primary, 6 11.4
33 x-linked intellectual disability with or without nystagmus 11.4
34 nephrotic syndrome, type 4 11.3
35 nephrotic syndrome, type 3 11.3
36 nephrotic syndrome, type 9 11.3
37 nephrotic syndrome, type 12 11.3
38 nephrotic syndrome 14 11.3
39 nephropathy, progressive, with deafness 11.2
40 idiopathic steroid-sensitive nephrotic syndrome with focal segmental hyalinosis 11.2
41 syndromic x-linked intellectual disability 14 11.2
42 nephrotic syndrome, type 6 11.1
43 nephrotic syndrome, type 5, with or without ocular abnormalities 11.1
44 nephrotic syndrome, type 10 11.1
45 nephrotic syndrome, type 11 11.1
46 nephrotic syndrome, type 13 11.1
47 nephrotic syndrome 15 11.1
48 nephrotic syndrome, idiopathic, steroid-resistant 11.0
49 cask-related disorders 10.9
50 renal adenoma 10.5 PAX2 WT1

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



Diseases related to Focal Segmental Glomerulosclerosis

Symptoms & Phenotypes for Focal Segmental Glomerulosclerosis

MGI Mouse Phenotypes related to Focal Segmental Glomerulosclerosis:

43
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.9 ACTN4 CD2AP COL4A3 CRB2 MED12 MYO1E
2 mortality/aging MP:0010768 9.77 NPHS1 NPHS2 PAX2 SMARCAL1 WT1 ACTN4
3 renal/urinary system MP:0005367 9.44 COL4A4 LAMB2 MYO1E NPHS1 NPHS2 PAX2

Drugs & Therapeutics for Focal Segmental Glomerulosclerosis

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

(show top 50) (show all 126)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Angiotensin II Approved, Investigational Phase 4,Phase 2 68521-88-0, 4474-91-3, 11128-99-7 172198 65143
2
Valsartan Approved, Investigational Phase 4 137862-53-4 60846
3 Hormone Antagonists Phase 4,Phase 3,Phase 2
4 Hormones Phase 4,Phase 3,Phase 2
5 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 4,Phase 3,Phase 2
6 Adrenocorticotropic Hormone Phase 4,Phase 3
7 beta-endorphin Phase 4,Phase 3
8 Melanocyte-Stimulating Hormones Phase 4,Phase 3
9 Immunoglobulin A Phase 4,Phase 2
10 Angiotensin II Type 1 Receptor Blockers Phase 4,Phase 2
11 Angiotensin Receptor Antagonists Phase 4,Phase 2
12 Angiotensinogen Phase 4,Phase 2
13 Antihypertensive Agents Phase 4,Phase 2
14
Mycophenolate mofetil Approved, Investigational Phase 3,Phase 2 128794-94-5 5281078
15
Mycophenolic acid Approved Phase 3,Phase 2 24280-93-1 446541
16
Prednisone Approved, Vet_approved Phase 3,Phase 2 53-03-2 5865
17
Dexamethasone Approved, Investigational, Vet_approved Phase 3,Phase 2 50-02-2 5743
18
Miconazole Approved, Investigational, Vet_approved Phase 3,Phase 2 22916-47-8 4189
19
Chlorambucil Approved Phase 3 305-03-3 2708
20
Methylprednisolone Approved, Vet_approved Phase 3,Phase 2 83-43-2 6741
21
Prednisolone Approved, Vet_approved Phase 3,Phase 2 50-24-8 5755
22
rituximab Approved Phase 3,Phase 2 174722-31-7 10201696
23
Valproic Acid Approved, Investigational Phase 2, Phase 3 99-66-1 3121
24 Anti-Inflammatory Agents Phase 3,Phase 2,Phase 1
25 Antineoplastic Agents, Hormonal Phase 3,Phase 2
26 Calcineurin Inhibitors Phase 3,Phase 2
27 glucocorticoids Phase 3,Phase 2
28 Immunosuppressive Agents Phase 3,Phase 2,Phase 1
29 Antiemetics Phase 3,Phase 2
30 Antifungal Agents Phase 3,Phase 2
31 Anti-Infective Agents Phase 3,Phase 2
32 Antirheumatic Agents Phase 3,Phase 2,Phase 1
33 Autonomic Agents Phase 3,Phase 2
34 BB 1101 Phase 3,Phase 2
35 Cyclosporins Phase 3
36 Dermatologic Agents Phase 3,Phase 2
37 Dexamethasone acetate Phase 3,Phase 2 1177-87-3
38 Gastrointestinal Agents Phase 3,Phase 2
39 HIV Protease Inhibitors Phase 3,Phase 2
40 Peripheral Nervous System Agents Phase 3,Phase 2
41
protease inhibitors Phase 3,Phase 2
42 Alkylating Agents Phase 3,Phase 1,Phase 2
43 Anti-Bacterial Agents Phase 3,Phase 2
44 Antibiotics, Antitubercular Phase 3,Phase 2
45 Antitubercular Agents Phase 3,Phase 2
46 Methylprednisolone acetate Phase 3,Phase 2
47 Methylprednisolone Hemisuccinate Phase 3,Phase 2
48 Neuroprotective Agents Phase 3
49 Prednisolone acetate Phase 3,Phase 2
50 Prednisolone hemisuccinate Phase 3,Phase 2

Interventional clinical trials:

(show top 50) (show all 65)

# 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 Use of Acthar in Patients With FSGS That Will be Undergoing Renal Transplantation Recruiting NCT02683889 Phase 3 Acthar
12 Valproic Acid for Idiopathic Nephrotic Syndrome Recruiting NCT02896270 Phase 2, Phase 3 Valproic Acid
13 Efficacy of Rituximab in Comparison to Continued Corticosteroid Treatment in Idiopathic Nephrotic Syndrome Not yet recruiting NCT03298698 Phase 3 Rituximab;Prednisone
14 Rituximab to Prevent Recurrence of Proteinuria Terminated NCT01164098 Phase 3 Rituximab
15 Rituximab Treatment of Focal Segmental Glomerulosclerosis Completed NCT00550342 Phase 2 rituximab
16 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
17 Permeability Factor in Focal Segmental Glomerulosclerosis Completed NCT00007475 Phase 1, Phase 2 Cyclophosphamide
18 Sirolimus for Focal Segmental Glomerulosclerosis Completed NCT00040508 Phase 2 Sirolimus
19 A Study of Fresolimumab in Patients With Steroid-Resistant Primary Focal Segmental Glomerulosclerosis (FSGS) Completed NCT01665391 Phase 2 fresolimumab;fresolimumab;Placebo
20 Novel Therapies for Resistant FSGS (FONTII): Phase II Clinical Trial Completed NCT00814255 Phase 2 Adalimumab;Lisinopril, losartan, and atorvastatin;galactose
21 Pirfenidone to Treat Kidney Disease (Focal Segmental Glomerulosclerosis) Completed NCT00001959 Phase 2 Pirfenidone
22 Once-A-Month Steroid Treatment for Patients With Focal Segmental Glomerulosclerosis Completed NCT00004990 Phase 2 Dexamethasone
23 Podocyte Retinoids Completed NCT00098020 Phase 2 Isotretinoin
24 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
25 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
26 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
27 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
28 A Pilot Study to Assess the Efficacy of Rituximab Therapy in Treatment Resistant FSGS Active, not recruiting NCT01573533 Phase 2
29 A Study of Oral CXA-10 in Primary Focal Segmental Glomerulosclerosis (FSGS) Not yet recruiting NCT03422510 Phase 2 CXA-10
30 A Phase 2 Trial To Evaluate PF-06730512 In Adults With Primary Focal Segmental Glomerulosclerosis Not yet recruiting NCT03448692 Phase 2 PF-06730512
31 Allogenic AD-MSC Transplantation in Idiopathic Nephrotic Syndrome (Focal Segmental Glomerulosclerosis) Unknown status NCT02382874 Phase 1
32 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
33 Total Lymphoid Irradiation (TLI) to Prevent Focal Segmental Glomerulosclerosis (FSGS)Recurrence in the Renal Graft Completed NCT00353535 Phase 1
34 Pilot Studies of Novel Therapies to Treat Resistant Focal Segmental Glomerulosclerosis (FSGS) Completed NCT00193648 Phase 1 Rosiglitazone (Avandia);Adalimumab (Humira)
35 A Phase 1 Multiple Ascending Dose Study to Evaluate the Safety, Tolerability, and Pharmacokinetics of ManNAc in Subjects With Primary Podocyte Diseases Recruiting NCT02639260 Phase 1 N-acetyl-mannosamine (ManNAc)
36 Stem Cell Therapy for Patients With Focal Segmental Glomerulosclerosis Active, not recruiting NCT02693366 Phase 1
37 Safety and Pharmacokinetics of FG-3019 in Adolescents and Adults With Focal Segmental Glomerulosclerosis (FSGS) Terminated NCT00782561 Phase 1 FG-3019
38 Effect of Oral Galactose on Focal Segmental Glomerulosclerosis (FSGS) Permeability Factor Terminated NCT00816478 Phase 1 Galactose
39 Effect of Galactose on Permeblity Factor in Patients With FSGS and CKD Stage 5 Withdrawn NCT00816504 Phase 1 Galactose
40 Therapeutic Effect of Low-dose Prednisone Combined With MMF and FK506 in Focal Segmental Glomerulosclerosis Unknown status NCT00956059 prednisone, FK506, MMF;prednisone
41 Predictors of Disease Progression in Primary Focal Segmental Glomerulosclerosis Completed NCT03126201
42 Prednisone Plus Tripterygium Wilfordii Treatment of Adult Patients With Idiopathic Focal Segmental Glomerulosclerosis Completed NCT00801463 tripterygium wilfordii (TW)
43 Oral Galactose in Children With Steroid Resistant Nephrotic Syndrome Completed NCT01113385 D-Galactose
44 Regional Citrate Anticoagulation in Plasma Exchange Treatment Completed NCT01370200
45 Kidney Disease Biomarkers Completed NCT00255398
46 Evaluation of Albuminuria HIV-Infected Patients Completed NCT00524992
47 The Effects of Helicobacter Pylori Eradication on Proteinuria in Patients With Membranous Nephropathy Completed NCT00983034 lansoprazole, amoxicillin, clarithromycin
48 Lupus Nephritis Biomarker Study: Baseline Characteristics of Patients Completed NCT01470183
49 Steroid-Induced Osteoporosis in the Pediatric Population - Canadian Incidence Study Completed NCT01663129
50 Role of Donor Genetics and Recipient Genetics in Kidney Transplant Outcomes Completed NCT01143532

Search NIH Clinical Center for Focal Segmental Glomerulosclerosis

Inferred drug relations via UMLS 69 / NDF-RT 47 :


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 28
2 Familial Idiopathic Steroid-Resistant Nephrotic Syndrome 28

Anatomical Context for Focal Segmental Glomerulosclerosis

MalaCards organs/tissues related to Focal Segmental Glomerulosclerosis:

38
Kidney, Bone, Monocytes, Endothelial, Myeloid, Testes, Neutrophil
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 Potential therapeutic candidate, affected by disease

Publications for Focal Segmental Glomerulosclerosis

Articles related to Focal Segmental Glomerulosclerosis:

(show top 50) (show all 747)
# Title Authors Year
1
BehAset's syndrome and focal segmental glomerulosclerosis with nephrotic syndrome - successful treatment with etanercepta8c. ( 29292692 )
2018
2
Renal Artery Embolization for the Treatment of Refractory Proteinuria in Three Pediatric Patients with Focal Segmental Glomerulosclerosis. ( 29258656 )
2018
3
<i>Strongyloides stercoralis</i> -Associated Tip Variant Focal Segmental Glomerulosclerosis. ( 29340309 )
2018
4
The mechanical challenges and cytoskeletal impairments in focal segmental glomerulosclerosis. ( 29363327 )
2018
5
Focal segmental glomerulosclerosis in children complicated by posterior reversible encephalopathy syndrome. ( 29310486 )
2018
6
Rituximab treatment in adults with refractory minimal change disease or focal segmental glomerulosclerosis. ( 29212162 )
2017
7
Chylous ascites in focal segmental glomerulosclerosis. ( 28314586 )
2017
8
Removal of focal segmental glomerulosclerosis (FSGS) factor suPAR using CytoSorb. ( 28370393 )
2017
9
Development of Focal Segmental Glomerulosclerosis Patient-Reported Outcome Measures: Symptom Diary and Symptom Impact Questionnaire. ( 28663063 )
2017
10
Genetic basis of adult-onset nephrotic syndrome and focal segmental glomerulosclerosis. ( 28776307 )
2017
11
Focal segmental glomerulosclerosis; why does it occur segmentally? ( 28664408 )
2017
12
What are we missing in the clinical trials of focal segmental glomerulosclerosis? ( 28391338 )
2017
13
Efficacy and Safety of Sparsentan Compared With Irbesartan in Patients With Primary Focal Segmental Glomerulosclerosis: Randomized, Controlled Trial Design (DUET). ( 29142983 )
2017
14
Pregnancy, Proteinuria, Plant-Based Supplemented Diets and Focal Segmental Glomerulosclerosis: A Report on Three Cases and Critical Appraisal of the Literature. ( 28753930 )
2017
15
Calcineurin Inhibitors in the Treatment of Primary Focal Segmental Glomerulosclerosis: A Systematic Review and Meta-analysis of the Literature. ( 28321320 )
2017
16
Urinary Exosomal miR-193a Can Be a Potential Biomarker for the Diagnosis of Primary Focal Segmental Glomerulosclerosis in Children. ( 28246603 )
2017
17
Investigational drugs in development for focal segmental glomerulosclerosis. ( 28707483 )
2017
18
De Novo Focal Segmental Glomerulosclerosis in Renal Allograft-Histological Presentation and Clinical Correlation: Single Centre Experience. ( 28571148 )
2017
19
Cyclosporine-based immunosuppressive therapy for patients with steroid-resistant focal segmental glomerulosclerosis: a meta-analysis. ( 28436233 )
2017
20
Frequent COL4 mutations in familial microhematuria accompanied by later-onset Alport nephropathy due to focal segmental glomerulosclerosis. ( 28632965 )
2017
21
COQ6 Mutations in Children With Steroid-Resistant Focal Segmental Glomerulosclerosis and Sensorineural Hearing Loss. ( 28117207 )
2017
22
Focal Segmental Glomerulosclerosis Associated with Chronic Progressive External Ophthalmoplegia and Mitochondrial DNA A3243G Mutation. ( 29190634 )
2017
23
Application of next-generation sequencing technology to diagnosis and treatment of focal segmental glomerulosclerosis. ( 28752288 )
2017
24
Focal segmental glomerulosclerosis in atypical polycystic kidney disease. ( 28063418 )
2017
25
Comparative differential proteomic analysis of minimal change disease and focal segmental glomerulosclerosis. ( 28158993 )
2017
26
Focal Segmental Glomerulosclerosis in a Patient with Ambiguous Genitalia: A Diagnostic Dilemma. ( 28333603 )
2017
27
Focal segmental glomerulosclerosis associated with mitochondrial disease. ( 29043143 )
2017
28
A Phase 2, Double-Blind, Placebo-Controlled, Randomized Study of Fresolimumab in Patients With Steroid-Resistant Primary Focal Segmental Glomerulosclerosis. ( 29270487 )
2017
29
Truncating Wilms Tumor Suppressor Gene 1 Mutation in an XX Female with Adult-Onset Focal Segmental Glomerulosclerosis and Streak Ovaries: A Case Report. ( 27701157 )
2017
30
Focal Segmental Glomerulosclerosis in Related Miniature Schnauzer Dogs. ( 29191133 )
2017
31
IgM as a novel predictor of disease progression in secondary focal segmental glomerulosclerosis. ( 28857521 )
2017
32
The Incidence of Primary vs Secondary Focal Segmental Glomerulosclerosis: A Clinicopathologic Study. ( 29110886 )
2017
33
Moxibustion Alleviates Injury in a Rat Focal Segmental Glomerulosclerosis Model. ( 28630634 )
2017
34
Long-Term Outcomes of Kidney Transplant Recipients With Primary Idiopathic Focal Segmental Glomerulosclerosis. ( 29198656 )
2017
35
Remission of post-transplant focal segmental glomerulosclerosis with angiotensin receptor blockers. ( 28356673 )
2017
36
Serum C3 and Renal Outcome in Patients with Primary Focal Segmental Glomerulosclerosis. ( 28642464 )
2017
37
CD44 is required for the pathogenesis of experimental crescentic glomerulonephritis and collapsing focal segmental glomerulosclerosis. ( 29276101 )
2017
38
Long-term complete remission in a patient with focal segmental glomerulosclerosis associated with Guillain-Barre syndrome. ( 28921751 )
2017
39
Complex glomerular pathology of thrombotic microangiopathy and focal segmental glomerulosclerosis forms tumor-like mass in a renal transplant donor with severe renovascular hypertension. ( 28509120 )
2017
40
Focal segmental glomerulosclerosis and medullary nephrocalcinosis in children with ADCK4 mutations. ( 28405841 )
2017
41
Unwinding focal segmental glomerulosclerosis. ( 28491286 )
2017
42
Hypokalaemic metabolic alkalosis resembing Gitelman syndrome with focal segmental glomerulosclerosis. ( 28994252 )
2017
43
Focal segmental glomerulosclerosis associated with cutaneous and systemic plasmacytosis. ( 28939949 )
2017
44
Optimal management of primary focal segmental glomerulosclerosis in adults. ( 28546764 )
2017
45
Evidence from the Oxford Classification cohort supports the clinical value of subclassification ofA focal segmental glomerulosclerosis in IgAA nephropathy. ( 27914703 )
2017
46
Pregnancy Is a Risk Factor for Secondary Focal Segmental Glomerulosclerosis in Women with a History of Very Low Birth Weight. ( 28626180 )
2017
47
Dapagliflozin in Focal Segmental Glomerulosclerosis: A Combined Human-Rodent Pilot Study. ( 29141939 )
2017
48
Safety and Efficacy of Combination ACTHar Gel and Tacrolimus in Treatment-Resistant Focal Segmental Glomerulosclerosis and Membranous Glomerulopathy. ( 29270498 )
2017
49
Does copy number variation of APOL1 gene affect the susceptibility to focal segmental glomerulosclerosis? ( 28494221 )
2017
50
Focal segmental glomerulosclerosis lagged behind the onset of rheumatoid arthritis by 7 years: A case report and literature review. ( 28072731 )
2017

Variations for Focal Segmental Glomerulosclerosis

ClinVar genetic disease variations for Focal Segmental Glomerulosclerosis:

6 (show all 39)
# Gene Variation Type Significance SNP ID Assembly Location
1 MED12 NM_005120.2(MED12): c.2881C> T (p.Arg961Trp) single nucleotide variant Pathogenic rs80338758 GRCh37 Chromosome X, 70347217: 70347217
2 MED12 NM_005120.2(MED12): c.2873G> A (p.Gly958Glu) single nucleotide variant Pathogenic rs397515554 GRCh38 Chromosome X, 71127359: 71127359
3 NPHS2 NM_014625.3(NPHS2): c.868G> A (p.Val290Met) single nucleotide variant Pathogenic/Likely pathogenic,risk factor rs200482683 GRCh37 Chromosome 1, 179521743: 179521743
4 NPHS2 NM_014625.3(NPHS2): c.948delT (p.Ala317Leufs) deletion Pathogenic/Likely pathogenic rs775170915 GRCh38 Chromosome 1, 179551377: 179551377
5 NPHS2 NM_014625.3(NPHS2): c.855_856delAA (p.Arg286Thrfs) deletion Likely pathogenic rs749740335 GRCh37 Chromosome 1, 179521755: 179521756
6 NPHS2 NM_014625.3(NPHS2): c.586C> T (p.Arg196Ter) single nucleotide variant Likely pathogenic rs12568913 GRCh37 Chromosome 1, 179526314: 179526314
7 NPHS2 NM_014625.3(NPHS2): c.503G> A (p.Arg168His) single nucleotide variant Pathogenic/Likely pathogenic rs530318579 GRCh37 Chromosome 1, 179528845: 179528845
8 NPHS2 NM_014625.3(NPHS2): c.502C> T (p.Arg168Cys) single nucleotide variant Likely pathogenic rs786204583 GRCh37 Chromosome 1, 179528846: 179528846
9 NPHS2 NM_014625.3(NPHS2): c.451+2T> A single nucleotide variant Likely pathogenic rs786204708 GRCh37 Chromosome 1, 179530422: 179530422
10 SMARCAL1 NM_014140.3(SMARCAL1): c.2542G> T (p.Glu848Ter) single nucleotide variant Pathogenic rs119473033 GRCh37 Chromosome 2, 217342939: 217342939
11 NPHS2 NM_014625.3(NPHS2): c.412C> T (p.Arg138Ter) single nucleotide variant Pathogenic rs74315343 GRCh37 Chromosome 1, 179530463: 179530463
12 NPHS2 NPHS2, 1-BP INS, 104G insertion Pathogenic
13 NPHS2 NPHS2, 1-BP DEL, 419G deletion Pathogenic
14 NPHS2 NPHS2, 2-BP DEL, 855AA deletion Pathogenic
15 NPHS2 NM_014625.3(NPHS2): c.59C> T (p.Pro20Leu) single nucleotide variant Pathogenic rs74315344 GRCh37 Chromosome 1, 179544941: 179544941
16 NPHS2 NM_014625.3(NPHS2): c.274G> T (p.Gly92Cys) single nucleotide variant Pathogenic rs74315345 GRCh37 Chromosome 1, 179544726: 179544726
17 NPHS2 NM_014625.3(NPHS2): c.479A> G (p.Asp160Gly) single nucleotide variant Pathogenic rs74315346 GRCh37 Chromosome 1, 179528869: 179528869
18 NPHS2 NM_014625.3(NPHS2): c.538G> A (p.Val180Met) single nucleotide variant Pathogenic/Likely pathogenic rs74315347 GRCh37 Chromosome 1, 179526362: 179526362
19 NPHS2 NM_014625.3(NPHS2): c.871C> T (p.Arg291Trp) single nucleotide variant Pathogenic/Likely pathogenic rs74315348 GRCh37 Chromosome 1, 179521740: 179521740
20 NPHS2 NM_014625.3(NPHS2): c.686G> A (p.Arg229Gln) single nucleotide variant risk factor rs61747728 GRCh37 Chromosome 1, 179526214: 179526214
21 MED12 NM_005120.2(MED12): c.4147G> A (p.Ala1383Thr) single nucleotide variant Pathogenic rs863223696 GRCh37 Chromosome X, 70351950: 70351950
22 NPHS2 NM_014625.3(NPHS2): c.812C> T (p.Pro271Leu) single nucleotide variant Pathogenic rs869312747 GRCh38 Chromosome 1, 179552664: 179552664
23 NPHS2 NM_014625.3(NPHS2): c.115C> T (p.Gln39Ter) single nucleotide variant Pathogenic rs869312746 GRCh37 Chromosome 1, 179544885: 179544885
24 MED12 NM_005120.2(MED12): c.2444G> A (p.Arg815Gln) single nucleotide variant Pathogenic rs762905361 GRCh38 Chromosome X, 71126057: 71126057
25 MED12 NM_005120.2(MED12): c.3067A> G (p.Ile1023Val) single nucleotide variant Pathogenic rs879255526 GRCh37 Chromosome X, 70347828: 70347828
26 MED12 NM_005120.2(MED12): c.5898dupC (p.Ser1967GlnfsTer84) duplication Pathogenic rs879255527 GRCh37 Chromosome X, 70357647: 70357647
27 NPHS2 NM_014625.3(NPHS2): c.1062dupC (p.Asn355Glnfs) duplication Likely pathogenic rs1057516900 GRCh37 Chromosome 1, 179520398: 179520398
28 NPHS2 NM_014625.3(NPHS2): c.964C> T (p.Arg322Ter) single nucleotide variant Likely pathogenic rs763818901 GRCh38 Chromosome 1, 179551361: 179551361
29 NPHS2 NM_014625.3(NPHS2): c.890C> T (p.Ala297Val) single nucleotide variant Likely pathogenic rs199506378 GRCh38 Chromosome 1, 179551435: 179551435
30 NPHS2 NM_014625.3(NPHS2): c.859C> T (p.Gln287Ter) single nucleotide variant Likely pathogenic rs1057517164 GRCh38 Chromosome 1, 179552617: 179552617
31 NPHS2 NM_014625.3(NPHS2): c.795-1G> A single nucleotide variant Likely pathogenic rs1057516523 GRCh37 Chromosome 1, 179521817: 179521817
32 NPHS2 NM_014625.3(NPHS2): c.685C> T (p.Arg229Ter) single nucleotide variant Likely pathogenic rs1057516414 GRCh38 Chromosome 1, 179557080: 179557080
33 NPHS2 NM_014625.3(NPHS2): c.643C> T (p.Gln215Ter) single nucleotide variant Likely pathogenic rs778055996 GRCh38 Chromosome 1, 179557122: 179557122
34 NPHS2 NM_014625.3(NPHS2): c.369delC (p.Cys124Alafs) deletion Likely pathogenic rs1057516395 GRCh37 Chromosome 1, 179533834: 179533834
35 NPHS2 NM_014625.3(NPHS2): c.138_142dupGGGCT (p.Ser48Trpfs) duplication Likely pathogenic rs1057516747 GRCh38 Chromosome 1, 179575723: 179575727
36 NPHS2 NM_014625.3(NPHS2): c.95_96insTA (p.Gly33Thrfs) insertion Likely pathogenic rs1057516880 GRCh37 Chromosome 1, 179544904: 179544905
37 NPHS2 NM_014625.3(NPHS2): c.3G> A (p.Met1Ile) single nucleotide variant Likely pathogenic rs1057516680 GRCh38 Chromosome 1, 179575862: 179575862
38 SMARCAL1 NM_001127207.1(SMARCAL1): c.723C> A (p.Cys241Ter) single nucleotide variant Pathogenic rs748106387 GRCh37 Chromosome 2, 217280150: 217280150
39 NPHS2 NM_014625.3(NPHS2): c.452-1G> A single nucleotide variant Pathogenic rs1060499703 GRCh37 Chromosome 1, 179528897: 179528897

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:

# Name GO ID Score Top Affiliating Genes
1 protein complex GO:0043234 9.83 ACTN4 CD2AP CRB2 NPHS2 PAX2
2 endoplasmic reticulum lumen GO:0005788 9.71 APOL1 COL4A3 COL4A4 LAMB2
3 basement membrane GO:0005604 9.5 COL4A3 COL4A4 LAMB2
4 cell-cell junction GO:0005911 9.46 ACTN4 CD2AP MYO1E NPHS2
5 basal lamina GO:0005605 9.37 COL4A4 LAMB2
6 actin cytoskeleton GO:0015629 9.35 ACTN4 ANLN CD2AP MYO1E SYNPO
7 collagen type IV trimer GO:0005587 9.26 COL4A3 COL4A4
8 slit diaphragm GO:0036057 8.8 NPHS1 NPHS2 TRPC6

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

# Name GO ID Score Top Affiliating Genes
1 Schwann cell development GO:0014044 9.46 LAMB2 MED12
2 glomerulus development GO:0032835 9.43 PTPRO WT1
3 mesenchymal to epithelial transition GO:0060231 9.4 PAX2 WT1
4 glomerular visceral epithelial cell development GO:0072015 9.37 MYO1E NPHS1
5 metanephric mesenchyme development GO:0072075 9.32 PAX2 WT1
6 glomerular visceral epithelial cell differentiation GO:0072112 9.26 PTPRO WT1
7 metanephric epithelium development GO:0072207 9.16 PAX2 WT1
8 glomerular basement membrane development GO:0032836 9.02 COL4A3 COL4A4 MYO1E NPHS1 WT1
9 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 integrin binding GO:0005178 9.13 ACTN4 COL4A3 LAMB2
2 actin binding GO:0003779 9.1 ACTN4 ANLN INF2 MYO1E SYNPO TRPC6

Sources for Focal Segmental Glomerulosclerosis

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