FSGS1
MCID: FCL025
MIFTS: 49

Focal Segmental Glomerulosclerosis 1 (FSGS1)

Categories: Genetic diseases, Immune 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 72 29 6 15
Fsgs1 57 12 72
Glomerulosclerosis, Focal Segmental, 1 57 13
Glomerulosclerosis, Segmental, Focal, Type 1 39
Segmental Glomerulosclerosis 70

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Miscellaneous:
incomplete penetrance
variable severity
slowly progressive
onset in first or second decade

Inheritance:
autosomal dominant


HPO:

31
focal segmental glomerulosclerosis 1:
Inheritance autosomal dominant inheritance
Onset and clinical course variable expressivity slow progression incomplete penetrance


Classifications:



External Ids:

Disease Ontology 12 DOID:0111128
OMIM® 57 603278
OMIM Phenotypic Series 57 PS603278
MeSH 44 D005923
ICD10 32 N04.1
UMLS 70 C0333497

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) (Updated 05-Apr-2021)

MalaCards based summary : Focal Segmental Glomerulosclerosis 1, also known as fsgs1, is related to focal segmental glomerulosclerosis 5 and focal segmental glomerulosclerosis 7. An important gene associated with Focal Segmental Glomerulosclerosis 1 is ACTN4 (Actinin Alpha 4), and among its related pathways/superpathways are Amoebiasis and Primary Focal Segmental Glomerulosclerosis FSGS. The drugs 2-(3-(4-ethoxybenzyl)-4-chlorophenyl)-6-hydroxymethyltetrahydro-2H-pyran-3,4,... and Sodium-Glucose Transporter 2 Inhibitors have been mentioned in the context of this disorder. Affiliated tissues include bone marrow, kidney and bone, and related phenotypes are focal segmental glomerulosclerosis and stage 5 chronic kidney disease

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 : 72 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 10 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 47)
# Related Disease Score Top Affiliating Genes
1 focal segmental glomerulosclerosis 5 31.1 LAMB2 INF2 COQ8B CD2AP APOL1 ACTN4
2 focal segmental glomerulosclerosis 7 31.0 LAMB2 INF2 EMP2 CRB2 COQ8B
3 focal segmental glomerulosclerosis 2 30.7 TRPC6 NPHS2 NPHS1 LAMB2 INF2 CRB2
4 focal segmental glomerulosclerosis 6 30.7 MYO1E LAMB2 INF2 CRB2 COQ8B CD2AP
5 focal segmental glomerulosclerosis 26.6 TRPC6 SMARCAL1 PLCE1 NUP93 NUP107 NPHS2
6 focal segmental glomerulosclerosis 10 10.9
7 focal segmental glomerulosclerosis 3 10.9
8 focal segmental glomerulosclerosis 4 10.9
9 coenzyme q10 deficiency, primary, 6 10.9
10 glomerular disease 10.3 CD2AP ACTN4
11 kidney hypertrophy 10.2 NPHS2 NPHS1
12 idiopathic steroid-resistant nephrotic syndrome 10.2 SMARCAL1 NPHS2 NPHS1
13 glutamate-cysteine ligase deficiency 10.2 TRPC6 NPHS1
14 wilms tumor, aniridia, genitourinary anomalies, and mental retardation syndrome 10.2 NPHS2 NPHS1 ACTN4
15 schimke immunoosseous dysplasia 10.1 SMARCAL1 NUP93 NPHS2
16 congenital syphilis 10.1 PLCE1 NPHS2 NPHS1
17 hemolytic uremic syndrome, atypical 1 10.1 SMARCAL1 INF2 COL4A5
18 nephrotic syndrome, type 1 10.1 NPHS2 NPHS1 CD2AP ACTN4
19 iga glomerulonephritis 10.1 NPHS2 NPHS1 CD2AP
20 hypoparathyroidism, sensorineural deafness, and renal disease 10.1 NPHS2 NPHS1 LAMB2 ACTN4
21 acute proliferative glomerulonephritis 10.1 NPHS2 NPHS1
22 nephrotic syndrome, type 10 10.1 NPHS2 NPHS1 EMP2
23 glomerulonephritis 10.0 NPHS2 NPHS1 COL4A5 APOL1
24 membranous nephropathy 10.0 TRPC6 NPHS2 NPHS1 CD2AP
25 myasthenic syndrome, congenital, 4c, associated with acetylcholine receptor deficiency 10.0 FMN1 ANLN ACTN4
26 autosomal dominant alport syndrome 10.0 NPHS2 MYO1E COL4A5
27 diffuse mesangial sclerosis 10.0 PLCE1 NPHS2 NPHS1 LAMB2
28 autoimmune disease of urogenital tract 10.0 NPHS1 COL4A5
29 chronic kidney disease 10.0 NPHS2 NPHS1 COL4A5 APOL1 ACTN4
30 lipoid nephrosis 9.9 TRPC6 NPHS2 NPHS1 CD2AP APOL1 ACTN4
31 nephrotic syndrome, type 2 9.8 PLCE1 NPHS2 NPHS1 INF2 CD2AP ACTN4
32 nail-patella syndrome 9.8 PLCE1 NPHS2 NPHS1 INF2 CD2AP ACTN4
33 proteinuria, chronic benign 9.8 NPHS2 NPHS1 INF2 COL4A5 CD2AP APOL1
34 oligomeganephronia 9.8 NPHS2 NPHS1 INF2 COQ8B CD2AP APOL1
35 hypertension, essential 9.7 TRPC6 NPHS2 NPHS1 INF2 COL4A5 APOL1
36 end stage renal disease 9.7 TRPC6 NPHS2 NPHS1 INF2 COL4A5 CD2AP
37 denys-drash syndrome 9.6 TRPC6 PLCE1 NUP107 NPHS2 NPHS1 INF2
38 focal segmental glomerulosclerosis 8 9.6 LAMB2 INF2 EMP2 CRB2 COQ8B ANLN
39 focal segmental glomerulosclerosis 9 9.6 LAMB2 INF2 EMP2 CRB2 COQ8B ANLN
40 pierson syndrome 9.6 PLCE1 NPHS2 NPHS1 LAMB2 INF2 COL4A5
41 kidney disease 9.6 TRPC6 NPHS2 NPHS1 INF2 CRB2 COL4A5
42 galloway-mowat syndrome 9.3 SMARCAL1 PLCE1 NUP93 NUP107 NPHS2 NPHS1
43 frasier syndrome 9.1 TRPC6 SMARCAL1 PLCE1 NUP93 NUP107 NPHS2
44 alport syndrome 9.0 TRPC6 PLCE1 NPHS2 NPHS1 MYO1E LAMB2
45 familial nephrotic syndrome 8.8 TRPC6 SMARCAL1 PLCE1 NPHS2 NPHS1 MYO1E
46 genetic steroid-resistant nephrotic syndrome 8.3 TRPC6 PLCE1 NUP93 NUP107 NPHS2 NPHS1
47 nephrotic syndrome 8.3 TRPC6 SMARCAL1 PLCE1 NUP93 NUP107 NPHS2

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

Human phenotypes related to Focal Segmental Glomerulosclerosis 1:

31 (show all 8)
# Description HPO Frequency HPO Source Accession
1 focal segmental glomerulosclerosis 31 obligate (100%) HP:0000097
2 stage 5 chronic kidney disease 31 occasional (7.5%) HP:0003774
3 hypertension 31 HP:0000822
4 proteinuria 31 HP:0000093
5 anemia 31 HP:0001903
6 hyperlipidemia 31 HP:0003077
7 hypoalbuminemia 31 HP:0003073
8 edema 31 HP:0000969

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
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 (Updated 05-Apr-2021)

MGI Mouse Phenotypes related to Focal Segmental Glomerulosclerosis 1:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.7 ACTN4 ARHGAP24 CD2AP COL4A5 CRB2 EMP2
2 renal/urinary system MP:0005367 9.32 ACTN4 CD2AP COL4A5 COQ8B FMN1 LAMB2

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 99)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1 2-(3-(4-ethoxybenzyl)-4-chlorophenyl)-6-hydroxymethyltetrahydro-2H-pyran-3,4,... Phase 4
2 Sodium-Glucose Transporter 2 Inhibitors Phase 4
3 Hypoglycemic Agents Phase 4
4 Pharmaceutical Solutions Phase 4
5 Melanocyte-Stimulating Hormones Phase 4
6 beta-Endorphin Phase 4
7
rituximab Approved Phase 3 174722-31-7 10201696
8
Prednisolone Approved, Vet_approved Phase 3 50-24-8 5755
9
Methylprednisolone Approved, Vet_approved Phase 3 83-43-2 6741
10
Prednisolone phosphate Approved, Vet_approved Phase 3 302-25-0
11
Methylprednisolone hemisuccinate Approved Phase 3 2921-57-5
12
Prednisolone acetate Approved, Vet_approved Phase 3 52-21-1
13
Dexamethasone Approved, Investigational, Vet_approved Phase 3 50-02-2 5743
14
Dexamethasone acetate Approved, Investigational, Vet_approved Phase 3 1177-87-3
15
Clotrimazole Approved, Vet_approved Phase 3 23593-75-1 2812
16
Miconazole Approved, Investigational, Vet_approved Phase 3 22916-47-8 4189
17
Chlorambucil Approved Phase 3 305-03-3 2708
18
Irbesartan Approved, Investigational Phase 3 138402-11-6 3749
19
Angiotensin II Approved, Investigational Phase 3 68521-88-0, 11128-99-7, 4474-91-3 172198
20
Prednisolone hemisuccinate Experimental Phase 3 2920-86-7
21 Antineoplastic Agents, Immunological Phase 3
22 Alkylating Agents Phase 3
23 Methylprednisolone Acetate Phase 3
24 Protective Agents Phase 3
25 Gastrointestinal Agents Phase 3
26 Cyclosporins Phase 3
27 Antiemetics Phase 3
28 Dermatologic Agents Phase 3
29 Antifungal Agents Phase 3
30 Neuroprotective Agents Phase 3
31 Histamine Antagonists Phase 3
32 Adrenocorticotropic Hormone Phase 3
33 Antihypertensive Agents Phase 3
34 Giapreza Phase 3
35 Angiotensinogen Phase 3
36 Angiotensin Receptor Antagonists Phase 3
37 Angiotensin II Type 1 Receptor Blockers Phase 3
38
Acetaminophen Approved Phase 2 103-90-2 1983
39
Promethazine Approved, Investigational Phase 2 60-87-7 4927
40
Diphenhydramine Approved, Investigational Phase 2 58-73-1, 147-24-0 3100
41
Rosiglitazone Approved, Investigational Phase 2 122320-73-4 77999
42
Lisinopril Approved, Investigational Phase 2 83915-83-7, 76547-98-3 5362119
43
Atorvastatin Approved Phase 2 134523-00-5 60823
44
Losartan Approved Phase 2 114798-26-4 3961
45
Epinephrine Approved, Vet_approved Phase 2 51-43-4 5816
46
Racepinephrine Approved Phase 2 329-65-7 838
47
Sirolimus Approved, Investigational Phase 2 53123-88-9 6436030 5284616
48
Abatacept Approved Phase 2 332348-12-6 10237
49
Adalimumab Approved, Experimental Phase 2 331731-18-1 16219006
50
Mycophenolic acid Approved Phase 2 24280-93-1 446541

Interventional clinical trials:

(show top 50) (show all 52)
# Name Status NCT ID Phase Drugs
1 Treating to Reduce Albuminuria and Normalize Hemodynamic Function in Focal ScLerosis With dApagliflozin Trial Effects: "The TRANSLATE Study" Completed NCT02585804 Phase 4 Dapagliflozin
2 Treatment of Proteinuria Due to Treatment Resistant or Treatment Intolerant Idiopathic Focal Segmental Glomerulosclerosis: A Prospective Study of Acthar (PODOCYTE) Completed NCT02633046 Phase 4 Acthar Gel
3 Idiopathic Focal Segmental Glomerulosclerosis (FSGS) and Treatment With ACTH Completed NCT01155141 Phase 4 H.P. Acthar Gel
4 Focal Segmental Glomerulosclerosis Clinical Trial Completed NCT00135811 Phase 3 Cyclosporin;MMF and Dexamethasone
5 A Prospective Randomized Open-label Study to Compare Mycophenolate Mofetil and Corticosteroid With Conventional Immunosuppressive Treatment on Proteinuria in Idiopathic Membranous Nephropathy (MN) and Focal Segmental Glomerulosclerosis (FSGS) Completed NCT00404833 Phase 3 prednisolone and mycophenolate mofetil;prednisolone and chlorambucil
6 A Prospective, Sequential Study to Assess the Efficacy of Rituximab Therapy in Maintaining Remission of Nephrotic Syndrome After Steroid and Immunosuppressive Therapy Withdrawal in Patients With Steroid-dependant or Multirelapsing Minimal Change Disease or Focal Segmental Glomerulosclerosis (NEMO Study) Completed NCT00981838 Phase 3 Rituximab
7 The Use of Acthar (ACTH) in Patients With Focal Segmental Glomerulosclerosis (FSGS) Who Have Developed Chronic Kidney Disease Stage V (CKD) or End Stage Renal Disease (ESRD) and Are Undergoing a Renal Transplant Recruiting NCT02683889 Phase 3 Acthar
8 A Randomized, Multicenter, Double-blind, Parallel, Active-control Study of the Effects of Sparsentan, a Dual Endothelin Receptor and Angiotensin Receptor Blocker, on Renal Outcomes in Patients With Primary FSGS Active, not recruiting NCT03493685 Phase 3 sparsentan;Irbesartan
9 Permeability Factor in Focal Segmental Glomerulosclerosis Completed NCT00007475 Phase 1, Phase 2 Cyclophosphamide
10 Anti-CD20, Rituximab, for the Treatment of Recurrent or Primary Resistant Focal Segmental Glomerulosclerosis (FSGS) Completed NCT00550342 Phase 2 rituximab
11 A Pilot Study to Assess the Efficacy of Rituximab Therapy in Patients With Treatment Resistant Idiopathic Focal Segmental Glomerulosclerosis (FSGS): Integrating an Assessment of the Relevance of suPAR and Activation of Podocyte β3 Integrin Completed NCT01573533 Phase 2
12 Novel Therapies for Resistant Focal Segmental Glomerulosclerosis Completed NCT00814255 Phase 2 Adalimumab;Lisinopril, losartan, and atorvastatin;galactose
13 A Phase 2 Multicenter, Open Label, Randomized Study of Two Titration Regimens of Oral CXA-10 in Subjects With Primary Focal Segmental Glomerulosclerosis (FSGS) Completed NCT03422510 Phase 2 CXA-10
14 A Phase 2, Multicenter, Double-Blind, Parallel Dosing, Randomized Study of Fresolimumab or Placebo in Patients With Steroid-Resistant Primary Focal Segmental Glomerulosclerosis Completed NCT01665391 Phase 2 fresolimumab;fresolimumab;Placebo
15 Pulse Dexamethasone in Focal Segmental Glomerulosclerosis Completed NCT00004990 Phase 2 Dexamethasone
16 Sirolimus for Focal Segmental Glomerulosclerosis Completed NCT00040508 Phase 2 Sirolimus
17 A Randomized, Double-Blind, Placebo-Controlled Dose-Ranging Study to Evaluate the Safety and Efficacy of CCX140-B in Subjects With Focal Segmental Glomerulosclerosis (FSGS) Completed NCT03536754 Phase 2 CCX140-B
18 A Phase II Randomized, Placebo-Controlled, Double-Blind, Parallel Arms, Pilot Study to Evaluate the Efficacy and Safety of Intravenous Abatacept in Treatment Resistant Nephrotic Syndrome (Focal Segmental Glomerulosclerosis/ Minimal Change Disease) Completed NCT02592798 Phase 2 Abatacept
19 Study of Losmapimod to Reduce Proteinuria in Idiopathic Focal Segmental Glomerulosclerosis (FSGS) Completed NCT02000440 Phase 2 Losmapimod
20 PRI-VENT FSGS: Preemptive Rituximab to Prevent Recurrent Focal Segmental Glomerulosclerosis Post-Transplant Recruiting NCT03763643 Phase 1, Phase 2 Rituximab;Placebo
21 An Open Label, Intra-Subject Dose Escalation Study of CCX140-B in Subjects With Primary Focal Segmental Glomerulosclerosis (FSGS) and Nephrotic Syndrome Recruiting NCT03703908 Phase 2 CCX140-B
22 A PHASE 2, 12 WEEK, ADAPTIVE, OPEN LABEL, SEQUENTIAL COHORT TRIAL TO EVALUATE THE EFFICACY, SAFETY, TOLERABILITY AND PHARMACOKINETICS OF PF 06730512 FOLLOWING MULTIPLE DOSES IN ADULT SUBJECTS WITH FOCAL SEGMENTAL GLOMERULOSCLEROSIS (FSGS) Recruiting NCT03448692 Phase 2 PF-06730512
23 A Phase 2a Multiple Ascending, Placebo-Controlled Study to Evaluate the Safety, Tolerability, Pharmacokinetics, and Pharmacodynamics of GFB-887, a TRPC5 Channel Inhibitor, in Patients With Diabetic Nephropathy, Focal Segmental Glomerulosclerosis, and Treatment-Resistant Minimal Change Disease Recruiting NCT04387448 Phase 2 GFB-887;Placebo
24 A Phase 2a, Open-label, Single-arm, 2-Part Study to Evaluate the Efficacy, Safety, and Pharmacokinetics of VX-147 in Adults With APOL1-mediated Focal Segmental Glomerulosclerosis Recruiting NCT04340362 Phase 2 VX-147
25 Precision Medicine Proof of Concept for Tumor Necrosis Factor Inhibition in Focal Segmental Glomerulosclerosis and Treatment Resistant Minimal Change Disease Recruiting NCT04009668 Phase 2 adalimumab
26 A Phase 2a, Double-Blind, Randomized, Placebo-Controlled, Crossover Study Evaluating the Safety and Efficacy of Propagermanium in Patients With Primary Focal Segmental Glomerulosclerosis (FSGS) Who Are Receiving Irbesartan Active, not recruiting NCT03649152 Phase 2 Propagermanium;Placebo
27 Efficacy and Safety of RE-021, a Dual Endothelin Receptor and Angiotensin Receptor Blocker, in Patients With Focal Segmental Glomerulosclerosis (FSGS): a Randomized, Double-Blind, Active-Control, Dose-Escalation Study Active, not recruiting NCT01613118 Phase 2 RE-021 (Sparsentan);Irbesartan
28 A Phase 2a, Randomized, Open-Label, Active Control, Multi-Center Study to Assess the Efficacy and Safety of Bleselumab in Preventing the Recurrence of Focal Segmental Glomerulosclerosis in de Novo Kidney Transplant Recipients Active, not recruiting NCT02921789 Phase 2 Bleselumab;Basiliximab;Mycophenolate Mofetil (MMF);Tacrolimus Capsules;Methylprednisone;Prednisone
29 An Open-Label Dose-Exploration Cohort Study Evaluating the Efficacy and Safety of Voclosporin in Achieving Complete or Partial Remission of Proteinuria in Subjects With Focal Segmental Glomerulosclerosis Terminated NCT03598036 Phase 2 Voclosporin
30 Allogenic Adipose Derived Mesenchymal Stromal Cells Transplantation to Improve Kidney Function in Refractory Primary Nephrotic Syndrome (Focal Segmental Glomerulosclerosis,FSGS) ,a Phase I Clinical Trial Unknown status NCT02382874 Phase 1
31 A Phase I, Multicentre, Open-label, Dose-escalating Study of Single Doses of GC1008 in Patients With Treatment Resistant Idiopathic Focal Segmental Glomerulosclerosis (FSGS) Completed NCT00464321 Phase 1
32 Safety Study of the Endovascular Infusion of Bone Marrow Derived Mononuclear Cells in Patients With Focal Segmental Glomerulosclerosis Completed NCT02693366 Phase 1
33 Effect of Galactose on Permeability Factor in Patients With Focal Segmental Glomerulosclerosis (FSGS) Terminated NCT00816478 Phase 1 Galactose
34 A Phase I, Open-Label Study of the Safety and Pharmacokinetics of FG-3019 in Adolescent and Adult Subjects With Steroid-Resistant Focal Segmental Glomerulosclerosis Terminated NCT00782561 Phase 1 FG-3019
35 Effect of Galactose on Permeability Factor in Patients With Focal Segmental Glomerulosclerosis (FSGS)and Chronic Kidney Disease Stage 5 Withdrawn NCT00816504 Phase 1 Galactose
36 Therapeutic Effect of Low-dose Prednisone Combined With MMF and FK506 in Focal Segmental Glomerulosclerosis Unknown status NCT00956059 prednisone, FK506, MMF;prednisone
37 A Prospective Controlled Follow-up of Serum Soluble Urokinase Receptor in the Cyclosporine A-treated Patients With Steroid-dependent and Steroid-resistant Focal Segmental Glomerulosclerosis Unknown status NCT01468493
38 Genetic Markers for Focal Segmental Glomerulosclerosis Completed NCT00001393
39 Effect of Oral Galactose on the Level of Focal Sclerosis Permeability Factor and Proteinuria in Children With Steroid Resistant Nephrotic Syndrome: A Pilot Study Completed NCT01113385 D-Galactose
40 Regional Citrate Anticoagulation in Plasma Exchange Treatment Completed NCT01370200
41 Efficacy and Safety of Rituximab in Adult Patients With Refractory or Relapsed Primary Focal Segmental Glomerulosclerosis or Minimal Change Disease Completed NCT04369183
42 Prospective Evaluation of Albuminuria in HIV Positive Patients Completed NCT00524992
43 Predictors of Disease Progression in Patients With Primary Focal Segmental Glomerulosclerosis Completed NCT03126201
44 Prednisone Plus Tripterygium Wilfordii Treatment of Adult Patients With Idiopathic Focal Segmental Glomerulosclerosis Completed NCT00801463 tripterygium wilfordii (TW)
45 Treatment of Drug-resistant Pediatric Primary Focal Segmental Glomerulosclerosis Using the Liposorber® LA-15 System Recruiting NCT02235857
46 Treatment of Drug-resistant Adult Primary Focal Segmental Glomerulosclerosis and Post -Transplant Recurrence Using the LIPOSORBER® LA-15 System Recruiting NCT04065438
47 The FOrMe Registry (The German Focal Segmental Glomerulosclerosis and Minimal Change Disease Registry) Recruiting NCT03949972
48 Molecular and Genetic Analysis of Inherited Kidney Dysfunction Active, not recruiting NCT02194582
49 Effect of LDL-Apheresis on Cardiovascular and Renal Outcomes in Focal Segmental Glomerulosclerosis (FSGS) Enrolling by invitation NCT04088799
50 A Study to Characterize the Genetic, Biomarker, and Clinical Profile of Patients With Focal Segmental Glomerulosclerosis (FSGS), Treatment-Resistant Minimal Change Disease (TR-MCD), and Diabetic Nephropathy (DN) Suspended NCT04235621

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

Anatomical Context for Focal Segmental Glomerulosclerosis 1

MalaCards organs/tissues related to Focal Segmental Glomerulosclerosis 1:

40
Bone Marrow, Kidney, Bone

Publications for Focal Segmental Glomerulosclerosis 1

Articles related to Focal Segmental Glomerulosclerosis 1:

(show all 29)
# Title Authors PMID Year
1
Three-layered proteomic characterization of a novel ACTN4 mutation unravels its pathogenic potential in FSGS. 57 6
26740551 2016
2
Mutations in ACTN4, encoding alpha-actinin-4, cause familial focal segmental glomerulosclerosis. 6 57
10700177 2000
3
Whole-genome sequencing of patients with rare diseases in a national health system. 6
32581362 2020
4
Clinico-pathological correlations of congenital and infantile nephrotic syndrome over twenty years. 6
24902943 2014
5
Focal segmental glomerulosclerosis. 57
22187987 2011
6
Nineteen novel NPHS1 mutations in a worldwide cohort of patients with congenital nephrotic syndrome (CNS). 6
20172850 2010
7
Genetic kidney diseases. 57
20382325 2010
8
Familial forms of nephrotic syndrome. 57
19066979 2010
9
Nephrin mutations cause childhood- and adult-onset focal segmental glomerulosclerosis. 6
19812541 2009
10
Nephrin mutations can cause childhood-onset steroid-resistant nephrotic syndrome. 6
18614772 2008
11
Mechanisms of disease: focal segmental glomerulosclerosis. 57
16932363 2005
12
Pathologic classification of focal segmental glomerulosclerosis: a working proposal. 57
14750104 2004
13
Inherited podocytopathies: FSGS and nephrotic syndrome from a genetic viewpoint. 57
12444222 2002
14
A locus for inherited focal segmental glomerulosclerosis maps to chromosome 19q13. 57
9461087 1998
15
Familial focal segmental glomerulosclerosis: nine cases in four families and review of the literature. 57
9261039 1997
16
Clinical and pathologic features of familial focal segmental glomerulosclerosis. 57
7611265 1995
17
Familial glomerular disease with asymptomatic proteinuria and nephrotic syndrome: a new clinical entity. 57
1429048 1992
18
Familial focal segmental glomerulosclerosis. 57
6229501 1983
19
B-cell oligoclonal expansions in renal tissue of patients with immune-mediated glomerular disease. 61
32479988 2020
20
Acquired glomerular lesions in patients with Down syndrome. 61
21733549 2012
21
α-Actinin-4/FSGS1 is required for Arp2/3-dependent actin assembly at the adherens junction. 61
22232703 2012
22
Familial focal segmental glomerulosclerosis associated with an ACTN4 mutation and paternal germline mosaicism. 61
18436095 2008
23
Non-neoplastic renal diseases are often unrecognized in adult tumor nephrectomy specimens: a review of 246 cases. 61
18059227 2007
24
Mycophenolate mofetil in children with multidrug-resistant nephrotic syndrome. 61
14964454 2004
25
Spontaneous cellulitis in adults with idiopathic nephrotic syndrome. 61
9729649 1998
26
Renal diseases in ankylosing spondylitis: review of the literature illustrated by case reports. 61
9890685 1998
27
Renal expression of intercellular adhesion molecule-1 in different forms of glomerulonephritis. 61
1682080 1991
28
Pattern of double glomerulopathies. A clinicopathologic study in nine nondiabetic patients. 61
2234252 1990
29
Renal biopsy appearances in rheumatoid disease. 61
6627762 1983

Variations for Focal Segmental Glomerulosclerosis 1

ClinVar genetic disease variations for Focal Segmental Glomerulosclerosis 1:

6 (show top 50) (show all 78)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 SMARCAL1 NM_001127207.2(SMARCAL1):c.723C>A (p.Cys241Ter) SNV Pathogenic 374208 rs748106387 GRCh37: 2:217280150-217280150
GRCh38: 2:216415427-216415427
2 ACTN4 NM_004924.6(ACTN4):c.763A>G (p.Lys255Glu) SNV Pathogenic 5420 rs121908415 GRCh37: 19:39200926-39200926
GRCh38: 19:38710286-38710286
3 ACTN4 NM_004924.6(ACTN4):c.776C>T (p.Thr259Ile) SNV Pathogenic 5421 rs121908416 GRCh37: 19:39200939-39200939
GRCh38: 19:38710299-38710299
4 ACTN4 NM_004924.6(ACTN4):c.784T>C (p.Ser262Pro) SNV Pathogenic 5422 rs121908417 GRCh37: 19:39200947-39200947
GRCh38: 19:38710307-38710307
5 ACTN4 NM_004924.6(ACTN4):c.584G>A (p.Gly195Asp) SNV Pathogenic 235864 rs878853159 GRCh37: 19:39198768-39198768
GRCh38: 19:38708128-38708128
6 APOL1 NM_003661.4(APOL1):c.1024A>G (p.Ser342Gly) SNV Pathogenic 277678 rs73885319 GRCh37: 22:36661906-36661906
GRCh38: 22:36265860-36265860
7 APOL1 NM_003661.4(APOL1):c.1024A>G (p.Ser342Gly) SNV Pathogenic 277678 rs73885319 GRCh37: 22:36661906-36661906
GRCh38: 22:36265860-36265860
8 APOL1 NM_003661.4(APOL1):c.1024A>G (p.Ser342Gly) SNV Pathogenic 277678 rs73885319 GRCh37: 22:36661906-36661906
GRCh38: 22:36265860-36265860
9 APOL1 NM_003661.4(APOL1):c.1152T>G (p.Ile384Met) SNV Pathogenic 127198 rs60910145 GRCh37: 22:36662034-36662034
GRCh38: 22:36265988-36265988
10 APOL1 NM_003661.4(APOL1):c.1152T>G (p.Ile384Met) SNV Pathogenic 127198 rs60910145 GRCh37: 22:36662034-36662034
GRCh38: 22:36265988-36265988
11 APOL1 NM_003661.4(APOL1):c.1152T>G (p.Ile384Met) SNV Pathogenic 127198 rs60910145 GRCh37: 22:36662034-36662034
GRCh38: 22:36265988-36265988
12 APOL1 NM_003661.4(APOL1):c.1164_1169del (p.Asn388_Tyr389del) Deletion Pathogenic 6081 rs71785313 GRCh37: 22:36662042-36662047
GRCh38: 22:36265996-36266001
13 COL4A5 NM_033380.3(COL4A5):c.1815del (p.Asn607fs) Deletion Pathogenic 844422 GRCh37: X:107841967-107841967
GRCh38: X:108598737-108598737
14 SMARCAL1 NM_001127207.2(SMARCAL1):c.2542G>T (p.Glu848Ter) SNV Pathogenic 4171 rs119473033 GRCh37: 2:217342939-217342939
GRCh38: 2:216478216-216478216
15 NPHS1 NM_004646.3(NPHS1):c.2928G>T (p.Arg976Ser) SNV Pathogenic 188761 rs138656762 GRCh37: 19:36330320-36330320
GRCh38: 19:35839418-35839418
16 ACTN4 NM_004924.6(ACTN4):c.175T>C (p.Trp59Arg) SNV Likely pathogenic 1028308 GRCh37: 19:39191252-39191252
GRCh38: 19:38700612-38700612
17 ACTN4 NM_004924.6(ACTN4):c.510_512del (p.Leu171del) Deletion Likely pathogenic 599063 rs1568725026 GRCh37: 19:39196707-39196709
GRCh38: 19:38706067-38706069
18 ACTN4 NM_004924.6(ACTN4):c.458T>C (p.Phe153Ser) SNV Likely pathogenic 599130 rs1568723797 GRCh37: 19:39195634-39195634
GRCh38: 19:38704994-38704994
19 ACTN4 NM_004924.6(ACTN4):c.236G>A (p.Arg79Gln) SNV Likely pathogenic 829975 rs759055242 GRCh37: 19:39191313-39191313
GRCh38: 19:38700673-38700673
20 TRPC6 NM_004621.6(TRPC6):c.2668G>A (p.Asp890Asn) SNV Likely pathogenic 812903 rs1591517929 GRCh37: 11:101323814-101323814
GRCh38: 11:101453083-101453083
21 NUP93 NM_014669.5(NUP93):c.1909A>G (p.Lys637Glu) SNV Likely pathogenic 812904 rs1596861969 GRCh37: 16:56871529-56871529
GRCh38: 16:56837617-56837617
22 INF2 NM_022489.4(INF2):c.658G>A (p.Glu220Lys) SNV Likely pathogenic 523533 rs530391015 GRCh37: 14:105169782-105169782
GRCh38: 14:104703445-104703445
23 CD2AP NM_012120.3(CD2AP):c.*454_*455GT[19] Microsatellite Uncertain significance 357191 rs60486147 GRCh37: 6:47592416-47592419
GRCh38: 6:47624680-47624683
24 ALG13 NM_001099922.3(ALG13):c.383+2821_383+2822delinsTT Indel Uncertain significance 88736 rs397518473 GRCh37: X:110931152-110931153
GRCh38: X:111687924-111687925
25 INF2 NM_022489.4(INF2):c.1262_1267CACCCC[3] (p.Pro427_Pro428del) Microsatellite Uncertain significance 312687 rs573567814 GRCh37: 14:105173863-105173868
GRCh38: 14:104707526-104707531
26 ACTN4 NM_004924.6(ACTN4):c.719T>C (p.Met240Thr) SNV Uncertain significance 427769 rs1114167420 GRCh37: 19:39200102-39200102
GRCh38: 19:38709462-38709462
27 ACTN4 NM_004924.6(ACTN4):c.190C>G (p.Leu64Val) SNV Uncertain significance 930231 GRCh37: 19:39191267-39191267
GRCh38: 19:38700627-38700627
28 NUP107 NM_020401.4(NUP107):c.1781G>A (p.Cys594Tyr) SNV Uncertain significance 989435 GRCh37: 12:69124936-69124936
GRCh38: 12:68731156-68731156
29 ACTN4 NM_004924.6(ACTN4):c.832G>A (p.Ala278Thr) SNV Uncertain significance 635450 rs779765397 GRCh37: 19:39205121-39205121
GRCh38: 19:38714481-38714481
30 ACTN4 NM_004924.6(ACTN4):c.1826A>G (p.Asn609Ser) SNV Uncertain significance 829890 rs777000965 GRCh37: 19:39214930-39214930
GRCh38: 19:38724290-38724290
31 WT1 NM_024426.6(WT1):c.1388G>A (p.Arg463Gln) SNV Uncertain significance 599100 rs1037084691 GRCh37: 11:32413577-32413577
GRCh38: 11:32392031-32392031
32 COQ8B NM_024876.4(COQ8B):c.538C>T (p.Arg180Cys) SNV Uncertain significance 988159 GRCh37: 19:41211039-41211039
GRCh38: 19:40705134-40705134
33 CD2AP NM_012120.3(CD2AP):c.*2116_*2118del Deletion Uncertain significance 357223 rs886061545 GRCh37: 6:47594078-47594080
GRCh38: 6:47626342-47626344
34 CD2AP NM_012120.3(CD2AP):c.*452_*455del Deletion Uncertain significance 357185 rs886061524 GRCh37: 6:47592414-47592417
GRCh38: 6:47624678-47624681
35 CD2AP NM_012120.3(CD2AP):c.*454_*455GT[24] Microsatellite Uncertain significance 357188 rs60486147 GRCh37: 6:47592415-47592416
GRCh38: 6:47624679-47624680
36 TRPC6 NM_004621.6(TRPC6):c.739C>T (p.Arg247Trp) SNV Uncertain significance 301910 rs201859973 GRCh37: 11:101374961-101374961
GRCh38: 11:101504230-101504230
37 CD2AP NM_012120.3(CD2AP):c.*496delinsGTGTGTGTG Indel Uncertain significance 357203 rs886061534 GRCh37: 6:47592459-47592459
GRCh38: 6:47624723-47624723
38 CD2AP NM_012120.3(CD2AP):c.*496_*502delinsGTGTGTGTGTG Indel Uncertain significance 357206 rs886061535 GRCh37: 6:47592459-47592465
GRCh38: 6:47624723-47624729
39 CD2AP NM_012120.3(CD2AP):c.*454_*455GT[23] Microsatellite Uncertain significance 357187 rs60486147 GRCh37: 6:47592415-47592416
GRCh38: 6:47624679-47624680
40 CD2AP NM_012120.3(CD2AP):c.*496_*497AT[7] Microsatellite Uncertain significance 357201 rs71538327 GRCh37: 6:47592458-47592459
GRCh38: 6:47624722-47624723
41 CD2AP NM_012120.3(CD2AP):c.*1466del Deletion Uncertain significance 357218 rs886061541 GRCh37: 6:47593427-47593427
GRCh38: 6:47625691-47625691
42 CD2AP NM_012120.3(CD2AP):c.*454_*455GT[22] Microsatellite Uncertain significance 357186 rs60486147 GRCh37: 6:47592415-47592416
GRCh38: 6:47624679-47624680
43 CD2AP NM_012120.3(CD2AP):c.*496delinsGTGTGTGTGTG Indel Uncertain significance 357204 rs886061534 GRCh37: 6:47592459-47592459
GRCh38: 6:47624723-47624723
44 CD2AP NM_012120.3(CD2AP):c.*496_*504delinsGTGTG Indel Uncertain significance 357207 rs886061536 GRCh37: 6:47592459-47592467
GRCh38: 6:47624723-47624731
45 CD2AP NM_012120.3(CD2AP):c.*454_*455GT[20] Microsatellite Uncertain significance 357190 rs60486147 GRCh37: 6:47592416-47592417
GRCh38: 6:47624680-47624681
46 CD2AP NM_012120.3(CD2AP):c.*490G>A SNV Uncertain significance 357193 rs886061528 GRCh37: 6:47592453-47592453
GRCh38: 6:47624717-47624717
47 CD2AP NM_012120.3(CD2AP):c.*494_*499del Deletion Uncertain significance 357196 rs886061530 GRCh37: 6:47592456-47592461
GRCh38: 6:47624720-47624725
48 CD2AP NM_012120.3(CD2AP):c.*451_*452insGT Insertion Uncertain significance 357184 rs886061523 GRCh37: 6:47592413-47592414
GRCh38: 6:47624677-47624678
49 CD2AP NM_012120.3(CD2AP):c.*495_*496insGTAT Insertion Uncertain significance 357199 rs886061525 GRCh37: 6:47592457-47592458
GRCh38: 6:47624721-47624722
50 CD2AP NM_012120.3(CD2AP):c.*496_*497AT[5] Microsatellite Uncertain significance 357202 rs71538327 GRCh37: 6:47592458-47592463
GRCh38: 6:47624722-47624727

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

72
# 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

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 11.44 LAMB2 COL4A5 ACTN4
2 11.23 TRPC6 SMARCAL1 PLCE1 NPHS2 NPHS1 MYO1E
3 10.67 NPHS1 CD2AP ACTN4
4 10.67 TRPC6 NPHS2 NPHS1 CD2AP

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 cell junction GO:0030054 9.63 MYO1E FMN1 CRB2 CD2AP ARHGAP24 ACTN4
2 nuclear periphery GO:0034399 9.26 NUP93 NUP107
3 actin cytoskeleton GO:0015629 9.26 MYO1E CD2AP ANLN ACTN4
4 slit diaphragm GO:0036057 8.8 TRPC6 NPHS2 NPHS1

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

# Name GO ID Score Top Affiliating Genes
1 actin filament organization GO:0007015 9.54 MYO1E EMP2 CD2AP
2 vesicle transport along actin filament GO:0030050 9.32 MYO1E ACTN4
3 nuclear pore complex assembly GO:0051292 9.26 NUP93 NUP107
4 glomerular basement membrane development GO:0032836 9.16 NPHS1 MYO1E
5 glomerular visceral epithelial cell development GO:0072015 8.96 NPHS1 MYO1E
6 metanephric glomerular visceral epithelial cell development GO:0072249 8.62 NPHS2 LAMB2

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

# Name GO ID Score Top Affiliating Genes
1 integrin binding GO:0005178 9.13 LAMB2 EMP2 ACTN4
2 actin binding GO:0003779 9.1 TRPC6 MYO1E INF2 FMN1 ANLN ACTN4

Sources for Focal Segmental Glomerulosclerosis 1

3 CDC
7 CNVD
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10 dbSNP
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17 EFO
18 ExPASy
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