MCID: FCL025
MIFTS: 59

Focal Segmental Glomerulosclerosis 1

Categories: Genetic diseases, Nephrological diseases, Rare diseases

Aliases & Classifications for Focal Segmental Glomerulosclerosis 1

MalaCards integrated aliases for Focal Segmental Glomerulosclerosis 1:

Name: Focal Segmental Glomerulosclerosis 1 57 12 75 29 6
Fsgs1 57 12 75
Familial Idiopathic Steroid-Resistant Nephrotic Syndrome with Focal Segmental Hyalinosis 59 29
Glomerulosclerosis, Focal Segmental, 1 57 13
Familial Idiopathic Steroid-Resistant Nephrotic Syndrome with Focal Segmental Glomerulosclerosis 59
Glomerulosclerosis, Segmental, Focal, Type 1 40
Segmental Glomerulosclerosis 73

Characteristics:

Orphanet epidemiological data:

59

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
variable severity
slowly progressive
incomplete penetrance
onset in first or second decade


HPO:

32
focal segmental glomerulosclerosis 1:
Onset and clinical course variable expressivity incomplete penetrance slow progression
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 59  
Rare renal diseases


Summaries for Focal Segmental Glomerulosclerosis 1

OMIM : 57 Focal segmental glomerulosclerosis (FSGS) is a pathologic finding in several renal disorders that manifest clinically as proteinuria and progressive decline in renal function. Some patients with FSGS develop the clinical entity called 'nephrotic syndrome' (see NPHS1; 256300), which includes massive proteinuria, hypoalbuminemia, hyperlipidemia, and edema. However, patients with FSGS may have proteinuria in the nephrotic range without other features of the nephrotic syndrome (summary by D'Agati et al., 2004; Mathis et al., 1998). D'Agati et al. (2011) provided a detailed review of FSGS, emphasizing that the disorder results from defects of the podocyte. Because of confusion in the literature regarding use of the terms 'nephrotic syndrome' and 'focal segmental glomerulosclerosis' (see NOMENCLATURE section), these disorders in OMIM are classified as NPHS or FSGS according to how they were first designated in the literature. (603278)

MalaCards based summary : Focal Segmental Glomerulosclerosis 1, also known as fsgs1, is related to focal segmental glomerulosclerosis 2 and focal segmental glomerulosclerosis 3. An important gene associated with Focal Segmental Glomerulosclerosis 1 is ACTN4 (Actinin Alpha 4), and among its related pathways/superpathways are Hexose transport and Primary Focal Segmental Glomerulosclerosis FSGS. The drugs Angiotensin II and Valsartan have been mentioned in the context of this disorder. Affiliated tissues include kidney, bone and monocytes, and related phenotypes are proteinuria and focal segmental glomerulosclerosis

Disease Ontology : 12 A focal segmental glomerulosclerosis that has material basis in an autosomal dominant mutation of ACTN4 on chromosome 19q13.2.

UniProtKB/Swiss-Prot : 75 Focal segmental glomerulosclerosis 1: A renal pathology defined by the presence of segmental sclerosis in glomeruli and resulting in proteinuria, reduced glomerular filtration rate and progressive decline in renal function. Renal insufficiency often progresses to end-stage renal disease, a highly morbid state requiring either dialysis therapy or kidney transplantation.

Related Diseases for Focal Segmental Glomerulosclerosis 1

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 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 33)
# Related Disease Score Top Affiliating Genes
1 focal segmental glomerulosclerosis 2 10.9
2 focal segmental glomerulosclerosis 3 10.9
3 focal segmental glomerulosclerosis 4 10.9
4 focal segmental glomerulosclerosis 5 10.9
5 focal segmental glomerulosclerosis 6 10.9
6 coenzyme q10 deficiency, primary, 6 10.9
7 focal segmental glomerulosclerosis 7 10.9
8 sporadic idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial sclerosis 10.6 PLCE1 WT1
9 familial idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial proliferation 10.5 NPHS1 PTPRO
10 renal adenoma 10.4 PAX2 WT1
11 hypoparathyroidism, sensorineural deafness, and renal disease 10.3 ACTN4 NPHS1 NPHS2
12 sporadic idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis 10.3 CD2AP NPHS2
13 familial idiopathic steroid-resistant nephrotic syndrome with minimal changes 10.2 NPHS1 NPHS2 PTPRO
14 kidney hypertrophy 10.1 NPHS1 NPHS2
15 crescentic glomerulonephritis 10.1 NPHS2 PTPRO WT1
16 galloway-mowat syndrome 10.1 ACTN4 NPHS1 NPHS2 NUP107
17 atrial septal defect 3 10.0 CD2AP NPHS1 NPHS2
18 end stage renal failure 10.0 NPHS1 NPHS2 PLCE1 WT1
19 nail-patella syndrome 9.9 CD2AP NPHS2 PAX2
20 lipoid nephrosis 9.9 CD2AP NPHS1 NPHS2
21 familial idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial sclerosis 9.8 NPHS1 NUP93 PLCE1 PTPRO WT1
22 chronic kidney failure 9.8 ACTN4 NPHS1 NPHS2 PAX2 WT1
23 iga glomerulonephritis 9.7 CD2AP NPHS1 NPHS2
24 diffuse mesangial sclerosis 9.7 NPHS1 NPHS2 PAX2 PLCE1 WT1
25 membranous nephropathy 9.7 CD2AP NPHS1 NPHS2 TRPC6
26 nephrotic syndrome, type 1 9.6 ACTN4 CD2AP NPHS1 NPHS2 WT1
27 denys-drash syndrome 9.5 CD2AP NPHS1 NPHS2 PAX2 WT1
28 frasier syndrome 9.3 ACTN4 CD2AP NPHS1 NPHS2 PLCE1 WT1
29 glomerulonephritis 9.2 COL4A3 NPHS1 NPHS2
30 familial nephrotic syndrome 9.0 ACTN4 CD2AP NPHS1 NPHS2 PLCE1 TRPC6
31 kidney disease 7.7 ACTN4 CD2AP COL4A3 CRB2 NPHS1 NPHS2
32 nephrotic syndrome 7.6 ACTN4 CD2AP COQ8B NPHS1 NPHS2 NUP107
33 focal segmental glomerulosclerosis 4.8 ACTN4 ANLN CD2AP COL4A3 CRB2 INF2

Graphical network of the top 20 diseases related to Focal Segmental Glomerulosclerosis 1:



Diseases related to Focal Segmental Glomerulosclerosis 1

Symptoms & Phenotypes for Focal Segmental Glomerulosclerosis 1

Symptoms via clinical synopsis from OMIM:

57
Cardiovascular Vascular:
hypertension

Hematology:
anemia

Laboratory Abnormalities:
proteinuria

Genitourinary Kidneys:
focal segmental glomerulosclerosis
end-stage renal disease (in some patients)
small hyperechoic kidneys


Clinical features from OMIM:

603278

Human phenotypes related to Focal Segmental Glomerulosclerosis 1:

32 (show all 8)
# Description HPO Frequency HPO Source Accession
1 proteinuria 32 HP:0000093
2 focal segmental glomerulosclerosis 32 obligate (100%) HP:0000097
3 hypertension 32 HP:0000822
4 edema 32 HP:0000969
5 anemia 32 HP:0001903
6 hypoalbuminemia 32 HP:0003073
7 hyperlipidemia 32 HP:0003077
8 stage 5 chronic kidney disease 32 occasional (7.5%) HP:0003774

GenomeRNAi Phenotypes related to Focal Segmental Glomerulosclerosis 1 according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased gamma-H2AX phosphorylation GR00053-A 9.23 ANLN COL4A3 MYO1E NPHS1 NUP107 NUP205

MGI Mouse Phenotypes related to Focal Segmental Glomerulosclerosis 1:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.73 PLCE1 PTPRO TRPC6 WT1 ACTN4 CD2AP
2 renal/urinary system MP:0005367 9.28 ACTN4 CD2AP COL4A3 MYO1E NPHS1 NPHS2

Drugs & Therapeutics for Focal Segmental Glomerulosclerosis 1

Drugs for Focal Segmental Glomerulosclerosis 1 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 127)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Angiotensin II Approved, Investigational Phase 4,Phase 2,Not Applicable 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,Not Applicable
4 Hormones Phase 4,Phase 3,Phase 2,Not Applicable
5 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 4,Phase 3,Phase 2,Not Applicable
6 Angiotensin II Type 1 Receptor Blockers Phase 4,Phase 2,Not Applicable
7 Angiotensin Receptor Antagonists Phase 4,Phase 2,Not Applicable
8 Angiotensinogen Phase 4,Phase 2,Not Applicable
9 Antihypertensive Agents Phase 4,Phase 2,Not Applicable
10 Adrenocorticotropic Hormone Phase 4,Phase 3
11 beta-endorphin Phase 4,Phase 3
12 Melanocyte-Stimulating Hormones Phase 4,Phase 3
13 Immunoglobulin A Phase 4,Phase 2,Not Applicable
14
Mycophenolate mofetil Approved, Investigational Phase 3,Phase 2,Not Applicable 128794-94-5 5281078
15
Mycophenolic acid Approved Phase 3,Phase 2,Not Applicable 24280-93-1 446541
16
Prednisone Approved, Vet_approved Phase 3,Phase 2,Not Applicable 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
rituximab Approved Phase 3,Phase 2 174722-31-7 10201696
20
Chlorambucil Approved Phase 3 305-03-3 2708
21
Methylprednisolone Approved, Vet_approved Phase 3,Phase 2 83-43-2 6741
22
Prednisolone Approved, Vet_approved Phase 3,Phase 2 50-24-8 5755
23
Valproic Acid Approved, Investigational Phase 2, Phase 3 99-66-1 3121
24 Anti-Inflammatory Agents Phase 3,Phase 2,Phase 1,Not Applicable
25 Antineoplastic Agents, Hormonal Phase 3,Phase 2,Not Applicable
26 Calcineurin Inhibitors Phase 3,Phase 2,Not Applicable
27 glucocorticoids Phase 3,Phase 2,Not Applicable
28 Immunosuppressive Agents Phase 3,Phase 2,Phase 1,Not Applicable
29 Antiemetics Phase 3,Phase 2
30 Antifungal Agents Phase 3,Phase 2
31 Anti-Infective Agents Phase 3,Phase 2,Not Applicable
32 Antirheumatic Agents Phase 3,Phase 2,Phase 1,Not Applicable
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,Not Applicable
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,Not Applicable
43 Anti-Bacterial Agents Phase 3,Phase 2,Not Applicable
44 Antibiotics, Antitubercular Phase 3,Phase 2
45 Antineoplastic Agents, Alkylating Phase 3,Phase 1,Phase 2,Not Applicable
46 Antitubercular Agents Phase 3,Phase 2
47 Methylprednisolone acetate Phase 3,Phase 2
48 Methylprednisolone Hemisuccinate Phase 3,Phase 2
49 Neuroprotective Agents Phase 3
50 Prednisolone acetate Phase 3,Phase 2

Interventional clinical trials:

(show top 50) (show all 69)
# 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 Rituximab in Multirelapsing Minimal Change Disease (MCD) or Focal Segmental Glomerulosclerosis (FSGS) Completed NCT00981838 Phase 3 Rituximab
8 Mycophenolate Mofetil in Membranous Nephropathy and Focal Segmental Completed NCT00404833 Phase 3 prednisolone and mycophenolate mofetil;prednisolone and chlorambucil
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 Use of Acthar in Patients With FSGS That Will be Undergoing Renal Transplantation Recruiting NCT02683889 Phase 3 Acthar
13 Valproic Acid for Idiopathic Nephrotic Syndrome Recruiting NCT02896270 Phase 2, Phase 3 Valproic Acid
14 Efficacy of Rituximab in Comparison to Continued Corticosteroid Treatment in Idiopathic Nephrotic Syndrome Not yet recruiting NCT03298698 Phase 3 Rituximab;Prednisone
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 Permeability Factor in Focal Segmental Glomerulosclerosis Completed NCT00007475 Phase 1, Phase 2 Cyclophosphamide
18 A Study of Fresolimumab in Patients With Steroid-Resistant Primary Focal Segmental Glomerulosclerosis (FSGS) Completed NCT01665391 Phase 2 fresolimumab;fresolimumab;Placebo
19 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
20 Sirolimus for Focal Segmental Glomerulosclerosis Completed NCT00040508 Phase 2 Sirolimus
21 Novel Therapies for Resistant FSGS (FONTII): Phase II Clinical Trial Completed NCT00814255 Phase 2 Adalimumab;Lisinopril, losartan, and atorvastatin;galactose
22 Once-A-Month Steroid Treatment for Patients With Focal Segmental Glomerulosclerosis Completed NCT00004990 Phase 2 Dexamethasone
23 Pirfenidone to Treat Kidney Disease (Focal Segmental Glomerulosclerosis) Completed NCT00001959 Phase 2 Pirfenidone
24 Podocyte Retinoids Completed NCT00098020 Phase 2 Isotretinoin
25 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
26 FIRSTx - A Study of Oral CXA-10 in Primary Focal Segmental Glomerulosclerosis (FSGS) Recruiting NCT03422510 Phase 2 CXA-10
27 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
28 Trial To Evaluate PF-06730512 In Adults With Primary Focal Segmental Glomerulosclerosis Recruiting NCT03448692 Phase 2 PF-06730512
29 A Study of CCX140-B in Subjects With FSGS Recruiting NCT03536754 Phase 2 CCX140-B
30 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
31 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
32 A Pilot Study to Assess the Efficacy of Rituximab Therapy in Treatment Resistant FSGS Active, not recruiting NCT01573533 Phase 2
33 Allogenic AD-MSC Transplantation in Idiopathic Nephrotic Syndrome (Focal Segmental Glomerulosclerosis) Unknown status NCT02382874 Phase 1
34 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
35 Total Lymphoid Irradiation (TLI) to Prevent Focal Segmental Glomerulosclerosis (FSGS)Recurrence in the Renal Graft Completed NCT00353535 Phase 1
36 Pilot Studies of Novel Therapies to Treat Resistant Focal Segmental Glomerulosclerosis (FSGS) Completed NCT00193648 Phase 1 Rosiglitazone (Avandia);Adalimumab (Humira)
37 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)
38 Stem Cell Therapy for Patients With Focal Segmental Glomerulosclerosis Active, not recruiting NCT02693366 Phase 1
39 Safety and Pharmacokinetics of FG-3019 in Adolescents and Adults With Focal Segmental Glomerulosclerosis (FSGS) Terminated NCT00782561 Phase 1 FG-3019
40 Effect of Oral Galactose on Focal Segmental Glomerulosclerosis (FSGS) Permeability Factor Terminated NCT00816478 Phase 1 Galactose
41 Effect of Galactose on Permeblity Factor in Patients With FSGS and CKD Stage 5 Withdrawn NCT00816504 Phase 1 Galactose
42 Therapeutic Effect of Low-dose Prednisone Combined With MMF and FK506 in Focal Segmental Glomerulosclerosis Unknown status NCT00956059 Not Applicable prednisone, FK506, MMF;prednisone
43 Telmisartan Promotes the Differentiation of Monocytes Into Macrophages M2 in Diabetic Nephropathy? Unknown status NCT02768948 Not Applicable telmisartan during 6 months;Losartan during 6 months
44 Predictors of Disease Progression in Primary Focal Segmental Glomerulosclerosis Completed NCT03126201
45 Prednisone Plus Tripterygium Wilfordii Treatment of Adult Patients With Idiopathic Focal Segmental Glomerulosclerosis Completed NCT00801463 Not Applicable tripterygium wilfordii (TW)
46 Oral Galactose in Children With Steroid Resistant Nephrotic Syndrome Completed NCT01113385 Not Applicable D-Galactose
47 Kidney Disease Biomarkers Completed NCT00255398
48 Regional Citrate Anticoagulation in Plasma Exchange Treatment Completed NCT01370200 Not Applicable
49 The Effects of Helicobacter Pylori Eradication on Proteinuria in Patients With Membranous Nephropathy Completed NCT00983034 Not Applicable lansoprazole, amoxicillin, clarithromycin
50 Evaluation of Albuminuria HIV-Infected Patients Completed NCT00524992

Search NIH Clinical Center for Focal Segmental Glomerulosclerosis 1

Genetic Tests for Focal Segmental Glomerulosclerosis 1

Genetic tests related to Focal Segmental Glomerulosclerosis 1:

# Genetic test Affiliating Genes
1 Focal Segmental Glomerulosclerosis 1 29 ACTN4
2 Familial Idiopathic Steroid-Resistant Nephrotic Syndrome with Focal Segmental Hyalinosis 29

Anatomical Context for Focal Segmental Glomerulosclerosis 1

MalaCards organs/tissues related to Focal Segmental Glomerulosclerosis 1:

41
Kidney, Bone, Monocytes, Endothelial, Bone Marrow, Myeloid, Neutrophil

Publications for Focal Segmental Glomerulosclerosis 1

Articles related to Focal Segmental Glomerulosclerosis 1:

(show top 50) (show all 840)
# 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
Molecular profiling in IgA nephropathy and focal and segmental glomerulosclerosis. ( 29137483 )
2018
14
A mutation in transcription factor MAFB causes Focal Segmental Glomerulosclerosis with Duane Retraction Syndrome. ( 29779709 )
2018
15
The mechanical challenges and cytoskeletal impairments in focal segmental glomerulosclerosis. ( 29363327 )
2018
16
Focal segmental glomerulosclerosis with heterozygous apolipoprotein E5 (Glu3Lys). ( 29740794 )
2018
17
BehAset's syndrome and focal segmental glomerulosclerosis with nephrotic syndrome - successful treatment with etanercepta8c. ( 29292692 )
2018
18
Clinical Significance of Urinary Biomarkers in Patients With Primary Focal Segmental Glomerulosclerosis. ( 29661344 )
2018
19
Clinical and pathological phenotype of genetic causes of focal segmental glomerulosclerosis in adults. ( 29644057 )
2018
20
Can Focal Segmental Glomerulosclerosis Be Differentiated From Minimal Change Nephrotic Syndrome Using Biomarkers? ( 29661342 )
2018
21
Treatment of recurrent focal segmental glomerulosclerosis post-kidney transplantation in Australian and New Zealand children: A retrospective cohort study. ( 29676031 )
2018
22
Heterozygous <i>COL4A3</i> Variants in Histologically Diagnosed Focal Segmental Glomerulosclerosis. ( 29946535 )
2018
23
Molecular Mechanisms of Proteinuria in Focal Segmental Glomerulosclerosis. ( 29713631 )
2018
24
Plasma microRNA panel is a novel biomarker for focal segmental glomerulosclerosis and associated with podocyte apoptosis. ( 29748623 )
2018
25
Preoperative Low-Density Lipoprotein Apheresis for Preventing Recurrence of Focal Segmental Glomerulosclerosis after Kidney Transplantation. ( 29808114 )
2018
26
Renal Artery Embolization for the Treatment of Refractory Proteinuria in Three Pediatric Patients with Focal Segmental Glomerulosclerosis. ( 29258656 )
2018
27
Focal segmental glomerulosclerosis in atypical polycystic kidney disease. ( 28063418 )
2017
28
Application of next-generation sequencing technology to diagnosis and treatment of focal segmental glomerulosclerosis. ( 28752288 )
2017
29
Long-Term Outcomes of Kidney Transplant Recipients With Primary Idiopathic Focal Segmental Glomerulosclerosis. ( 29198656 )
2017
30
Mortality and Allograft Loss Trends Among US Pediatric Kidney Transplant Recipients With and Without Focal Segmental Glomerulosclerosis. ( 29277509 )
2017
31
Focal Segmental Glomerulosclerosis. ( 28242845 )
2017
32
Moxibustion Alleviates Injury in a Rat Focal Segmental Glomerulosclerosis Model. ( 28630634 )
2017
33
Dapagliflozin in Focal Segmental Glomerulosclerosis: A Combined Human-Rodent Pilot Study. ( 29141939 )
2017
34
A Phase 2, Double-Blind, Placebo-Controlled, Randomized Study of Fresolimumab in Patients With Steroid-Resistant Primary Focal Segmental Glomerulosclerosis. ( 29270487 )
2017
35
Fatal proteinuric kidney disease in a 30-month-old German Fleckvieh heifer caused by unilateral focal segmental glomerulosclerosis subsequent to a non-functional counterpart kidney. ( 28248187 )
2017
36
Cyclosporine-based immunosuppressive therapy for patients with steroid-resistant focal segmental glomerulosclerosis: a meta-analysis. ( 28436233 )
2017
37
Remission of post-transplant focal segmental glomerulosclerosis with angiotensin receptor blockers. ( 28356673 )
2017
38
CD44 is required for the pathogenesis of experimental crescentic glomerulonephritis and collapsing focal segmental glomerulosclerosis. ( 29276101 )
2017
39
Focal Segmental Glomerulosclerosis in Related Miniature Schnauzer Dogs. ( 29191133 )
2017
40
Role of Protease-Activated Receptor 2 in Regulating Focal Segmental Glomerulosclerosis. ( 28245472 )
2017
41
Focal segmental glomerulosclerosis associated with mitochondrial disease. ( 29043143 )
2017
42
Focal segmental glomerulosclerosis associated with cutaneous and systemic plasmacytosis. ( 28939949 )
2017
43
Serum C3 and Renal Outcome in Patients with Primary Focal Segmental Glomerulosclerosis. ( 28642464 )
2017
44
Treatment of steroid-resistant focal segmental glomerulosclerosis with rituximab: A case report and review of literature. ( 28937082 )
2017
45
Long-term complete remission in a patient with focal segmental glomerulosclerosis associated with Guillain-Barre syndrome. ( 28921751 )
2017
46
De Novo Focal Segmental Glomerulosclerosis in Renal Allograft-Histological Presentation and Clinical Correlation: Single Centre Experience. ( 28571148 )
2017
47
What are we missing in the clinical trials of focal segmental glomerulosclerosis? ( 28391338 )
2017
48
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
49
Development of Focal Segmental Glomerulosclerosis Patient-Reported Outcome Measures: Symptom Diary and Symptom Impact Questionnaire. ( 28663063 )
2017
50
High-Dose Rituximab Ineffective for Focal Segmental Glomerulosclerosis: A Long-Term Observation Study. ( 28700988 )
2017

Variations for Focal Segmental Glomerulosclerosis 1

UniProtKB/Swiss-Prot genetic disease variations for Focal Segmental Glomerulosclerosis 1:

75
# Symbol AA change Variation ID SNP ID
1 ACTN4 p.Lys255Glu VAR_010378 rs121908415
2 ACTN4 p.Thr259Ile VAR_010379 rs121908416
3 ACTN4 p.Ser262Pro VAR_010380 rs121908417
4 ACTN4 p.Ser262Phe VAR_072115
5 ACTN4 p.Ala427Thr VAR_072116 rs201128110
6 ACTN4 p.Asn748Asp VAR_072117
7 ACTN4 p.Trp59Arg VAR_079797
8 ACTN4 p.Glu72Gln VAR_079798

ClinVar genetic disease variations for Focal Segmental Glomerulosclerosis 1:

6
(show all 20)
# Gene Variation Type Significance SNP ID Assembly Location
1 ACTN4 NM_004924.5(ACTN4): c.763A> G (p.Lys255Glu) single nucleotide variant Pathogenic rs121908415 GRCh37 Chromosome 19, 39200926: 39200926
2 ACTN4 NM_004924.5(ACTN4): c.763A> G (p.Lys255Glu) single nucleotide variant Pathogenic rs121908415 GRCh38 Chromosome 19, 38710286: 38710286
3 ACTN4 NM_004924.5(ACTN4): c.776C> T (p.Thr259Ile) single nucleotide variant Pathogenic rs121908416 GRCh37 Chromosome 19, 39200939: 39200939
4 ACTN4 NM_004924.5(ACTN4): c.776C> T (p.Thr259Ile) single nucleotide variant Pathogenic rs121908416 GRCh38 Chromosome 19, 38710299: 38710299
5 ACTN4 NM_004924.5(ACTN4): c.784T> C (p.Ser262Pro) single nucleotide variant Pathogenic rs121908417 GRCh37 Chromosome 19, 39200947: 39200947
6 ACTN4 NM_004924.5(ACTN4): c.784T> C (p.Ser262Pro) single nucleotide variant Pathogenic rs121908417 GRCh38 Chromosome 19, 38710307: 38710307
7 ACTN4 NM_004924.5(ACTN4): c.584G> A (p.Gly195Asp) single nucleotide variant Pathogenic rs878853159 GRCh37 Chromosome 19, 39198768: 39198768
8 ACTN4 NM_004924.5(ACTN4): c.584G> A (p.Gly195Asp) single nucleotide variant Pathogenic rs878853159 GRCh38 Chromosome 19, 38708128: 38708128
9 ACTN4 NM_004924.5(ACTN4): c.537G> A (p.Pro179=) single nucleotide variant Benign rs11553600 GRCh38 Chromosome 19, 38706096: 38706096
10 ACTN4 NM_004924.5(ACTN4): c.537G> A (p.Pro179=) single nucleotide variant Benign rs11553600 GRCh37 Chromosome 19, 39196736: 39196736
11 ACTN4 NM_004924.5(ACTN4): c.546C> T (p.Asn182=) single nucleotide variant Benign rs3745859 GRCh38 Chromosome 19, 38706105: 38706105
12 ACTN4 NM_004924.5(ACTN4): c.546C> T (p.Asn182=) single nucleotide variant Benign rs3745859 GRCh37 Chromosome 19, 39196745: 39196745
13 ACTN4 NM_004924.5(ACTN4): c.1977T> C (p.Asn659=) single nucleotide variant Benign rs12986337 GRCh38 Chromosome 19, 38724532: 38724532
14 ACTN4 NM_004924.5(ACTN4): c.1977T> C (p.Asn659=) single nucleotide variant Benign rs12986337 GRCh37 Chromosome 19, 39215172: 39215172
15 ACTN4 NM_004924.5(ACTN4): c.2563T> C (p.Leu855=) single nucleotide variant Benign rs1136956 GRCh38 Chromosome 19, 38729140: 38729140
16 ACTN4 NM_004924.5(ACTN4): c.2563T> C (p.Leu855=) single nucleotide variant Benign rs1136956 GRCh37 Chromosome 19, 39219780: 39219780
17 ACTN4 NM_004924.5(ACTN4): c.719T> C (p.Met240Thr) single nucleotide variant Uncertain significance rs1114167420 GRCh38 Chromosome 19, 38709462: 38709462
18 ACTN4 NM_004924.5(ACTN4): c.719T> C (p.Met240Thr) single nucleotide variant Uncertain significance rs1114167420 GRCh37 Chromosome 19, 39200102: 39200102
19 ARHGAP24 NM_001025616.2(ARHGAP24): c.892C> T (p.Arg298Cys) single nucleotide variant Uncertain significance rs143423680 GRCh37 Chromosome 4, 86898808: 86898808
20 ARHGAP24 NM_001025616.2(ARHGAP24): c.892C> T (p.Arg298Cys) single nucleotide variant Uncertain significance rs143423680 GRCh38 Chromosome 4, 85977655: 85977655

Expression for Focal Segmental Glomerulosclerosis 1

Search GEO for disease gene expression data for Focal Segmental Glomerulosclerosis 1.

Pathways for Focal Segmental Glomerulosclerosis 1

Pathways related to Focal Segmental Glomerulosclerosis 1 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.43 NUP107 NUP205 NUP93
2 11.27 ACTN4 CD2AP COL4A3 INF2 MYO1E NPHS1
3 10.67 ACTN4 CD2AP NPHS1
4 10.67 CD2AP NPHS1 NPHS2 TRPC6

GO Terms for Focal Segmental Glomerulosclerosis 1

Cellular components related to Focal Segmental Glomerulosclerosis 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 actin cytoskeleton GO:0015629 9.62 ACTN4 ANLN CD2AP MYO1E
2 nuclear pore GO:0005643 9.54 NUP107 NUP205 NUP93
3 cell-cell junction GO:0005911 9.46 ACTN4 CD2AP MYO1E NPHS2
4 host cell GO:0043657 9.43 NUP107 NUP205 NUP93
5 nuclear periphery GO:0034399 9.13 NUP107 NUP205 NUP93
6 slit diaphragm GO:0036057 8.8 NPHS1 NPHS2 TRPC6

Biological processes related to Focal Segmental Glomerulosclerosis 1 according to GeneCards Suite gene sharing:

(show all 20)
# Name GO ID Score Top Affiliating Genes
1 viral transcription GO:0019083 9.77 NUP107 NUP205 NUP93
2 mRNA transport GO:0051028 9.76 NUP107 NUP205 NUP93
3 mRNA export from nucleus GO:0006406 9.75 NUP107 NUP205 NUP93
4 regulation of gene silencing by miRNA GO:0060964 9.74 NUP107 NUP205 NUP93
5 protein sumoylation GO:0016925 9.73 NUP107 NUP205 NUP93
6 regulation of cellular response to heat GO:1900034 9.72 NUP107 NUP205 NUP93
7 intracellular transport of virus GO:0075733 9.67 NUP107 NUP205 NUP93
8 mitotic nuclear envelope disassembly GO:0007077 9.63 NUP107 NUP205 NUP93
9 regulation of glycolytic process GO:0006110 9.58 NUP107 NUP205 NUP93
10 mesenchymal to epithelial transition GO:0060231 9.54 PAX2 WT1
11 nucleocytoplasmic transport GO:0006913 9.54 NUP107 NUP205 NUP93
12 metanephric mesenchyme development GO:0072075 9.52 PAX2 WT1
13 glomerular visceral epithelial cell differentiation GO:0072112 9.51 PTPRO WT1
14 tRNA export from nucleus GO:0006409 9.5 NUP107 NUP205 NUP93
15 metanephric epithelium development GO:0072207 9.48 PAX2 WT1
16 glomerular visceral epithelial cell migration GO:0090521 9.43 ANLN NUP93
17 nuclear pore complex assembly GO:0051292 9.43 NUP107 NUP205 NUP93
18 glomerulus development GO:0032835 9.33 PLCE1 PTPRO WT1
19 glomerular visceral epithelial cell development GO:0072015 9.13 MYO1E NPHS1 NUP93
20 glomerular basement membrane development GO:0032836 8.92 COL4A3 MYO1E NPHS1 WT1

Molecular functions related to Focal Segmental Glomerulosclerosis 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 actin binding GO:0003779 9.35 ACTN4 ANLN INF2 MYO1E TRPC6
2 structural constituent of nuclear pore GO:0017056 8.8 NUP107 NUP205 NUP93

Sources for Focal Segmental Glomerulosclerosis 1

3 CDC
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11 DGIdb
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