FGS
MCID: FCL005
MIFTS: 60

Focal Segmental Glomerulosclerosis (FGS) malady

Categories: Rare diseases, Genetic diseases, Nephrological diseases, Neuronal diseases, Mental diseases

Aliases & Classifications for Focal Segmental Glomerulosclerosis

Aliases & Descriptions for Focal Segmental Glomerulosclerosis:

Name: Focal Segmental Glomerulosclerosis 38 12 50 24 29 14
Fg Syndrome 12 71 50 25 14 69
Opitz-Kaveggia Syndrome 12 50 25
Keller Syndrome 12 50 25
Fgs 12 50 25
Familial Idiopathic Steroid-Resistant Nephrotic Syndrome 50 56
Familial Idiopathic Nephrotic Syndrome 50 56
Glomerulosclerosis, Focal Segmental 52 42
Segmental Glomerulosclerosis 50 69
Focal Glomerulosclerosis 12 69
Fsgs 12 50
Fgs1 50 25
Mental Retardation, Large Head, Imperforate Anus, Congenital Hypotonia, and Partial Agenesis of the Corpus Callosum 25
Mental Retardation, Large Head, Imperforate Anus, Congenital Hypotonia, and Partial Agenesis of Corpus Callosum 50
Focal Segmental Glomerulosclerosis, Not Otherwise Specified 69
Idiopathic Focal Segmental Glomerulosclerosis 24
Familial Focal Segmental Glomerulosclerosis 24
Focal Sclerosis with Hyalinosis 50
Focal Glomerular Sclerosis 12
Glomerulosclerosis, Focal 50
Glomerulosclerosis Focal 52
Oks 25

Characteristics:

Orphanet epidemiological data:

56
familial idiopathic steroid-resistant nephrotic syndrome
Inheritance: Autosomal dominant,Autosomal recessive; Age of onset: All ages;

Classifications:

Orphanet: 56  
Rare renal diseases


External Ids:

Disease Ontology 12 DOID:1312 DOID:14711
NCIt 47 C37308
Orphanet 56 ORPHA656
ICD10 via Orphanet 34 N04.1 N04.3 N04.8

Summaries for Focal Segmental Glomerulosclerosis

NIH Rare Diseases : 50 fg syndrome (fgs) is a genetic condition that affects many parts of the body and occurs almost exclusively in males. "fg" represents the surname initials of the first individuals diagnosed with the disorder. people with fg syndrome frequently have intellectual disability ranging from mild to severe, hypotonia, constipation and/or anal anomalies, a distinctive facial appearance, broad thumbs and great toes, a large head compared to body size (relative macrocephaly), and abnormalities of the corpus callosum. medical problems including heart defects, seizures, undescended testicle, and an inguinal hernia have also been reported in some affected individuals. researchers have identified five regions of the x chromosome that are linked to fg syndrome in affected families. mutations in the med12 gene appears to be the most common cause of this disorder, leading to fg syndrome 1. other genes involved with fg syndrome include flna (fgs2), cask (fgs4), upf3b (fgs6), and  brwd3 (fgs7). fgs is inherited in an x-linked recessive pattern. individualized early intervention and educational services are important so that each child can reach their fullest potential.  last updated: 3/16/2016

MalaCards based summary : Focal Segmental Glomerulosclerosis, also known as fg syndrome, is related to fg syndrome 5 and frasier syndrome, and has symptoms including constipation and seizures. An important gene associated with Focal Segmental Glomerulosclerosis is TRPC6 (Transient Receptor Potential Cation Channel Subfamily C Member 6), and among its related pathways/superpathways are Amoebiasis and Primary Focal Segmental Glomerulosclerosis FSGS. The drugs Valsartan and Hormone Antagonists have been mentioned in the context of this disorder. Affiliated tissues include Kidney, kidney and heart, and related phenotypes are cardiovascular system and mortality/aging

Wikipedia : 71 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 8 Focal Segmental Glomerulosclerosis 9
Glomerulosclerosis, Focal Segmental, 4 Glomerulosclerosis, Focal Segmental, 3
Glomerulosclerosis, Focal Segmental, 7 Glomerulosclerosis, Focal Segmental, 2
Glomerulosclerosis, Focal Segmental, 5 Glomerulosclerosis, Focal Segmental, 6
Glomerulosclerosis, Focal Segmental, 1

Diseases related to Focal Segmental Glomerulosclerosis via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 170)
id Related Disease Score Top Affiliating Genes
1 fg syndrome 5 32.6 COL4A3 MYH9 MYO1E
2 frasier syndrome 29.5 CD2AP NPHS1 NPHS2 PAX2 WT1
3 familial nephrotic syndrome 29.3 MYH9 NPHS1 NPHS2 WT1
4 focal segmental glomerulosclerosis 8 12.5
5 focal segmental glomerulosclerosis 9 12.5
6 fg syndrome 4 12.2
7 fg syndrome 2 12.2
8 glomerulosclerosis, focal segmental, 1 12.0
9 glomerulosclerosis, focal segmental, 7 12.0
10 glomerulosclerosis, focal segmental, 2 12.0
11 glomerulosclerosis, focal segmental, 5 12.0
12 glomerulosclerosis, focal segmental, 6 12.0
13 glomerulosclerosis, focal segmental, 4 12.0
14 glomerulosclerosis, focal segmental, 3 12.0
15 opitz-kaveggia syndrome 11.9
16 fg syndrome 3 11.9
17 c1q nephropathy 11.5
18 nephrotic syndrome, type 1 11.3
19 coenzyme q10 deficiency, primary, 6 11.3
20 nephrotic syndrome, type 9 11.2
21 nephrotic syndrome, type 3 11.2
22 nephrotic syndrome, type 4 11.2
23 nephrotic syndrome, type 2 11.2
24 familial idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis 11.1
25 idiopathic steroid-sensitive nephrotic syndrome with focal segmental hyalinosis 11.1
26 sporadic idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis 11.1
27 nephrotic syndrome, type 6 11.0
28 nephrotic syndrome type 11 11.0
29 nephrotic syndrome type 12 11.0
30 nephrotic syndrome type 13 11.0
31 nephrotic syndrome, type 5, with or without ocular abnormalities 11.0
32 nephrotic syndrome, type 10 11.0
33 x-linked intellectual disability with or without nystagmus 11.0
34 nephrotic syndrome, idiopathic, steroid-resistant 10.9
35 vaccinia 10.8
36 cask-related disorders 10.8
37 syndromic x-linked intellectual disability 14 10.8
38 nephrotic syndrome 10.5
39 mucinous adenofibroma 10.2 PAX2 WT1
40 membranous nephropathy 10.2
41 hepatitis 10.2
42 glomerulonephritis 10.2
43 kidney disease 10.2
44 congenital bilateral megacalycosis 10.1 NPHS1 PTPRO
45 muscular dystrophy-dystroglycanopathy , type b, 1 10.1 CD2AP NPHS2 PAX2
46 sick sinus syndrome 3 10.1 CD2AP NPHS1 NPHS2
47 cholangitis, primary sclerosing 10.1 LAMB2 NPHS2
48 obesity 10.1
49 endotheliitis 10.1
50 hypertrichosis of eyelid 10.1 NPHS1 NPHS2 SYNPO

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



Diseases related to Focal Segmental Glomerulosclerosis

Symptoms & Phenotypes for Focal Segmental Glomerulosclerosis

UMLS symptoms related to Focal Segmental Glomerulosclerosis:


constipation, seizures

MGI Mouse Phenotypes related to Focal Segmental Glomerulosclerosis:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10 ACTN4 CD2AP COL4A3 CRB2 MYH9 MYO1E
2 mortality/aging MP:0010768 9.9 ACTN4 CD2AP COL4A3 CRB2 LAMB2 MYH9
3 renal/urinary system MP:0005367 9.73 ACTN4 CD2AP COL4A3 LAMB2 MYH9 MYO1E
4 vision/eye MP:0005391 9.17 PAX2 TRPC6 ACTN4 COL4A3 CRB2 LAMB2

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)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Valsartan Approved, Investigational Phase 4 137862-53-4 60846
2 Hormone Antagonists Phase 4,Phase 3,Phase 2
3 Hormones Phase 4,Phase 3,Phase 2
4 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 4,Phase 3,Phase 2
5
Angiotensin II Phase 4,Phase 2 68521-88-0, 11128-99-7 65143 172198
6 beta-endorphin Phase 4,Phase 3
7 Adrenocorticotropic Hormone Phase 4,Phase 3
8 Angiotensin II Type 1 Receptor Blockers Phase 4,Phase 2
9 Angiotensin Receptor Antagonists Phase 4,Phase 2
10 Angiotensinogen Phase 4,Phase 2
11 Immunoglobulin A Phase 4
12 Antihypertensive Agents Phase 4,Phase 2
13 Melanocyte-Stimulating Hormones Phase 4,Phase 3
14
Mycophenolic acid Approved Phase 3,Phase 2 24280-93-1 446541
15
Mycophenolate mofetil Approved, Investigational Phase 3,Phase 2 128794-94-5 5281078
16
Dexamethasone Approved, Investigational, Vet_approved Phase 3,Phase 2 50-02-2 5743
17
Cyclosporine Approved, Investigational, Vet_approved Phase 3 79217-60-0, 59865-13-3 5284373 6435893
18
Chlorambucil Approved Phase 3 305-03-3 2708
19
rituximab Approved Phase 3,Phase 2 174722-31-7 10201696
20
Prednisolone Approved, Vet_approved Phase 3,Phase 2 50-24-8 5755
21
Miconazole Approved, Investigational, Vet_approved Phase 3,Phase 2 22916-47-8 4189
22
Methylprednisolone Approved, Vet_approved Phase 3,Phase 2 83-43-2 6741
23
Valproic Acid Approved, Investigational Phase 2, Phase 3 99-66-1 3121
24 glucocorticoids Phase 3,Phase 2
25 Immunosuppressive Agents Phase 3,Phase 2,Phase 1
26 Anti-Inflammatory Agents Phase 3,Phase 2,Phase 1
27 Antineoplastic Agents, Hormonal Phase 3,Phase 2
28 Calcineurin Inhibitors Phase 3,Phase 2
29 Prednisolone acetate Phase 3,Phase 2
30 Dexamethasone acetate Phase 3,Phase 2 1177-87-3
31 Alkylating Agents Phase 3,Phase 1,Phase 2
32
protease inhibitors Phase 3,Phase 2
33 Gastrointestinal Agents Phase 3,Phase 2
34 Neuroprotective Agents Phase 3
35 HIV Protease Inhibitors Phase 3,Phase 2
36 Dermatologic Agents Phase 3
37 Dexamethasone 21-phosphate Phase 3,Phase 2
38 Peripheral Nervous System Agents Phase 3,Phase 2
39 Anti-Bacterial Agents Phase 3,Phase 2
40 Prednisolone hemisuccinate Phase 3,Phase 2
41 Prednisolone phosphate Phase 3,Phase 2
42 Anti-Infective Agents Phase 3,Phase 2
43 Protective Agents Phase 3,Phase 2
44 Antiemetics Phase 3,Phase 2
45 Antifungal Agents Phase 3,Phase 2
46 Antibiotics, Antitubercular Phase 3,Phase 2
47 Methylprednisolone acetate Phase 3,Phase 2
48 Methylprednisolone Hemisuccinate Phase 3,Phase 2
49 Antirheumatic Agents Phase 3,Phase 2,Phase 1
50 Antineoplastic Agents, Alkylating Phase 3,Phase 1,Phase 2

Interventional clinical trials:

(show top 50) (show all 60)
id Name Status NCT ID Phase
1 Idiopathic Focal Segmental Glomerulosclerosis (FSGS) and Treatment With ACTH Completed NCT01155141 Phase 4
2 Treatment of Resistant Nephrotic Syndrome With ACTH Gel (ACTHAR) Completed NCT01129284 Phase 4
3 Treatment of Proteinuria Due to Treatment Resistant or Treatment Intolerant Idiopathic FSGS Recruiting NCT02633046 Phase 4
4 Treating to Reduce Albuminuria and Normalize Hemodynamic Function in Focal ScLerosis With dApagliflozin Trial Effects Recruiting NCT02585804 Phase 4
5 Aldosterone Breakthrough During Diovan, Tekturna, and Combination Therapy in Patients With Proteinuric Kidney Disease Terminated NCT01129557 Phase 4
6 Focal Segmental Glomerulosclerosis Clinical Trial (FSGS-CT) Completed NCT00135811 Phase 3
7 Mycophenolate Mofetil in Membranous Nephropathy and Focal Segmental Completed NCT00404833 Phase 3
8 Rituximab in Multirelapsing Minimal Change Disease (MCD) or Focal Segmental Glomerulosclerosis (FSGS) Completed NCT00981838 Phase 3
9 Steroid Treatment for Kidney Disease Completed NCT00065611 Phase 3
10 Efficacy of Rituximab For the Treatment of Calcineurin Inhibitors Dependent Nephrotic Syndrome During Childhood Completed NCT01268033 Phase 2, Phase 3
11 Rituximab to Prevent Recurrence of Proteinuria Completed NCT01164098 Phase 3
12 Use of Acthar in Patients With FSGS That Will be Undergoing Renal Transplantation Recruiting NCT02683889 Phase 3
13 Valproic Acid for Idiopathic Nephrotic Syndrome Not yet recruiting NCT02896270 Phase 2, Phase 3
14 Rituximab Treatment of Focal Segmental Glomerulosclerosis Completed NCT00550342 Phase 2
15 Permeability Factor in Focal Segmental Glomerulosclerosis Completed NCT00007475 Phase 1, Phase 2
16 Sirolimus for Focal Segmental Glomerulosclerosis Completed NCT00040508 Phase 2
17 A Phase II, Repeat Dose, Proof of Mechanism Study of Losmapimod to Reduce Proteinuria in Patients With Focal Segmental Glomerulosclerosis (FSGS) Completed NCT02000440 Phase 2
18 A Study of Fresolimumab in Patients With Steroid-Resistant Primary Focal Segmental Glomerulosclerosis (FSGS) Completed NCT01665391 Phase 2
19 Novel Therapies for Resistant FSGS (FONTII): Phase II Clinical Trial Completed NCT00814255 Phase 2
20 Pirfenidone to Treat Kidney Disease (Focal Segmental Glomerulosclerosis) Completed NCT00001959 Phase 2
21 Once-A-Month Steroid Treatment for Patients With Focal Segmental Glomerulosclerosis Completed NCT00004990 Phase 2
22 Retinoids for Minimal Change Disease and Focal Segmental Glomerulosclerosis Completed NCT00098020 Phase 1, Phase 2
23 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
24 A Pilot Study to Assess the Efficacy of Rituximab Therapy in Treatment Resistant FSGS Recruiting NCT01573533 Phase 2
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
26 Randomized, Double-Blind, Safety and Efficacy Study of RE-021 (Sparsentan) in Focal Segmental Glomerulosclerosis Active, not recruiting NCT01613118 Phase 2
27 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
28 Total Lymphoid Irradiation (TLI) to Prevent Focal Segmental Glomerulosclerosis (FSGS)Recurrence in the Renal Graft Completed NCT00353535 Phase 1
29 Pilot Studies of Novel Therapies to Treat Resistant Focal Segmental Glomerulosclerosis (FSGS) Completed NCT00193648 Phase 1
30 Allogenic AD-MSC Transplantation in Idiopathic Nephrotic Syndrome (Focal Segmental Glomerulosclerosis) Recruiting NCT02382874 Phase 1
31 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
32 Stem Cell Therapy for Patients With Focal Segmental Glomerulosclerosis Active, not recruiting NCT02693366 Phase 1
33 Safety and Pharmacokinetics of FG-3019 in Adolescents and Adults With Focal Segmental Glomerulosclerosis (FSGS) Terminated NCT00782561 Phase 1
34 Effect of Oral Galactose on Focal Segmental Glomerulosclerosis (FSGS) Permeability Factor Terminated NCT00816478 Phase 1
35 Effect of Galactose on Permeblity Factor in Patients With FSGS and CKD Stage 5 Withdrawn NCT00816504 Phase 1
36 Therapeutic Effect of Low-dose Prednisone Combined With MMF and FK506 in Focal Segmental Glomerulosclerosis Unknown status NCT00956059
37 Prednisone Plus Tripterygium Wilfordii Treatment of Adult Patients With Idiopathic Focal Segmental Glomerulosclerosis Completed NCT00801463
38 Oral Galactose in Children With Steroid Resistant Nephrotic Syndrome Completed NCT01113385
39 Regional Citrate Anticoagulation in Plasma Exchange Treatment Completed NCT01370200
40 Kidney Disease Biomarkers Completed NCT00255398
41 Evaluation of Albuminuria HIV-Infected Patients Completed NCT00524992
42 The Effects of Helicobacter Pylori Eradication on Proteinuria in Patients With Membranous Nephropathy Completed NCT00983034
43 Lupus Nephritis Biomarker Study: Baseline Characteristics of Patients Completed NCT01470183
44 Role of Donor Genetics and Recipient Genetics in Kidney Transplant Outcomes Completed NCT01143532
45 Genetic Markers for Focal Segmental Glomerulosclerosis Recruiting NCT00001393
46 Post Approval Study of Liposorber LA-15 System for the Treatment of Focal Segmental Glomerulosclerosis in Children Recruiting NCT02235857
47 Proteinuria in Pre and Post Transplant Recruiting NCT01094327
48 Nephrotic Syndrome Study Network Recruiting NCT01209000
49 A Prospective Controlled Study of Serum suPAR in the CsA-treated FSGS Patients Recruiting NCT01468493
50 Pathogenesis of Glomerulosclerosis Recruiting NCT00001392

Search NIH Clinical Center for Focal Segmental Glomerulosclerosis

Inferred drug relations via UMLS 69 / NDF-RT 48 :


Cochrane evidence based reviews: glomerulosclerosis, focal segmental

Genetic Tests for Focal Segmental Glomerulosclerosis

Genetic tests related to Focal Segmental Glomerulosclerosis:

id Genetic test Affiliating Genes
1 Focal Segmental Glomerulosclerosis 29 24 TRPC6

Anatomical Context for Focal Segmental Glomerulosclerosis

MalaCards organs/tissues related to Focal Segmental Glomerulosclerosis:

39
Kidney, Heart, Endothelial, Testes, Neutrophil, Myeloid, Ovary
LifeMap Discovery
Data from LifeMap, the Embryonic Development and Stem Cells Database

Cells/anatomical compartments in embryo or adult related to Focal Segmental Glomerulosclerosis:
id 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 705)
id Title Authors Year
1
Urinary Exosomal miR-193a Can Be a Potential Biomarker for the Diagnosis of Primary Focal Segmental Glomerulosclerosis in Children. ( 28246603 )
2017
2
Focal segmental glomerulosclerosis and medullary nephrocalcinosis in children with ADCK4 mutations. ( 28405841 )
2017
3
Focal Segmental Glomerulosclerosis in a Patient with Ambiguous Genitalia: A Diagnostic Dilemma. ( 28333603 )
2017
4
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
5
A child with phenylketonuria and focal segmental glomerulosclerosis, the bright side of proteinuria. ( 28386663 )
2017
6
Focal segmental glomerulosclerosis lagged behind the onset of rheumatoid arthritis by 7 years: A case report and literature review. ( 28072731 )
2017
7
Evidence from the Oxford Classification cohort supports the clinical value of subclassification ofA focal segmental glomerulosclerosis in IgAA nephropathy. ( 27914703 )
2017
8
Does copy number variation of APOL1 gene affect the susceptibility to focal segmental glomerulosclerosis? ( 28494221 )
2017
9
What are we missing in the clinical trials of focal segmental glomerulosclerosis? ( 28391338 )
2017
10
Development of proteinuria and focal segmental glomerulosclerosis during direct acting antiviral therapy for hepatitis C virus infection (HEP-16-2474.R1). ( 28211090 )
2017
11
Role of Protease-Activated Receptor 2 in Regulating Focal Segmental Glomerulosclerosis. ( 28245472 )
2017
12
Calcineurin Inhibitors in the Treatment of Primary Focal Segmental Glomerulosclerosis: A Systematic Review and Meta-analysis of the Literature. ( 28321320 )
2017
13
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
14
Remission of post-transplant focal segmental glomerulosclerosis with angiotensin receptor blockers. ( 28356673 )
2017
15
Focal segmental glomerulosclerosis in atypical polycystic kidney disease. ( 28063418 )
2017
16
Unwinding focal segmental glomerulosclerosis. ( 28491286 )
2017
17
Focal Segmental Glomerulosclerosis. ( 28242845 )
2017
18
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
19
Comparative differential proteomic analysis of minimal change disease and focal segmental glomerulosclerosis. ( 28158993 )
2017
20
Cyclosporine-based immunosuppressive therapy for patients with steroid-resistant focal segmental glomerulosclerosis: a meta-analysis. ( 28436233 )
2017
21
Chylous ascites in focal segmental glomerulosclerosis. ( 28314586 )
2017
22
Unsuccessful Treatment with Abatacept in Recurrent Focal Segmental Glomerulosclerosis after Kidney Transplantation. ( 28203563 )
2017
23
Removal of focal segmental glomerulosclerosis (FSGS) factor suPAR using CytoSorb. ( 28370393 )
2017
24
Clinical presentation, treatment and outcome of focal segmental glomerulosclerosis in Far North Queensland Australian adults. ( 27170059 )
2016
25
Up-Regulation of CD74 Expression in Parietal Epithelial Cells in a Mouse Model of Focal Segmental Glomerulosclerosis. ( 27463800 )
2016
26
A Clinicopathologic Study of Children with Idiopathic Focal Segmental Glomerulosclerosis. ( 27054662 )
2016
27
Update on the treatment of focal segmental glomerulosclerosis in renal transplantation. ( 27011905 )
2016
28
Circulating Permeability Factors in Primary Focal Segmental Glomerulosclerosis: A Review of Proposed Candidates. ( 27200372 )
2016
29
Glomerular epithelial cells in secondary focal segmental glomerulosclerosis. ( 27181784 )
2016
30
Post-Transplant Recurrence of Focal Segmental Glomerulosclerosis in a Child With Heterozygous Mutations in NPHS1 and NPHS2. ( 27312921 )
2016
31
Aberrant Blood Vessel Formation Connecting the Glomerular Capillary Tuft and the Interstitium Is a Characteristic Feature of Focal Segmental Glomerulosclerosis-like IgA Nephropathy. ( 27068024 )
2016
32
Idiopathic collapsing focal segmental glomerulosclerosis in an 81-year-old Japanese woman: a case report and review of the literature. ( 28508976 )
2016
33
Light Chain Podocytopathy Mimicking Recurrent Focal Segmental Glomerulosclerosis. ( 27775221 )
2016
34
The role of plasma exchange in treating post-transplant focal segmental glomerulosclerosis: A systematic review and meta-analysis of 77 case-reports and case-series. ( 27473582 )
2016
35
Clinicopathological correlation and treatment response of primary focal segmental glomerulosclerosis in adults and adolescents. ( 27795629 )
2016
36
A role for genetic susceptibility in sporadic focal segmental glomerulosclerosis. ( 26927868 )
2016
37
Successful Preemptive Kidney Transplantation With Rituximab Induction in a Patient With Focal Segmental Glomerulosclerosis and Massive Nephrotic Syndrome: A Case Report. ( 27932154 )
2016
38
Posterior reversible encephalopathy syndrome in malignant hypertension secondary to focal segmental glomerulosclerosis. ( 27535734 )
2016
39
Focal segmental glomerulosclerosis: it may no longer be all about podocytes. ( 27633870 )
2016
40
Rituximab for Recurrence of Primary Focal Segmental Glomerulosclerosis After Kidney Transplantation: Clinical Outcomes. ( 27043407 )
2016
41
Infection-Related Focal Segmental Glomerulosclerosis in Children. ( 27294131 )
2016
42
A novel heterozygous COL4A4 missense mutation in a Chinese family with focal segmental glomerulosclerosis. ( 27469977 )
2016
43
Treatment of Focal Segmental Glomerulosclerosis Recurrence in the Renal Allograft: A Report of Two Cases. ( 27099858 )
2016
44
Functional Validation of an Alpha-Actinin-4 Mutation as a Potential Cause of an Aggressive Presentation of Adolescent Focal Segmental Glomerulosclerosis: Implications for Genetic Testing. ( 27977723 )
2016
45
Treatment Strategies of Adult Primary Focal Segmental Glomerulosclerosis: A Systematic Review Focusing on the Last Two Decades. ( 27144166 )
2016
46
Successful Treatment of Focal Segmental Glomerulosclerosis after Kidney Transplantation with Plasma Exchange and Abatacept in a Patient with Juvenile Rheumatoid Arthritis. ( 27088031 )
2016
47
Interferon Induced Focal Segmental Glomerulosclerosis. ( 27847659 )
2016
48
Secondary Focal Segmental Glomerulosclerosis: From Podocyte Injury to Glomerulosclerosis. ( 27088082 )
2016
49
A CD2AP Mutation Associated with Focal Segmental Glomerulosclerosis in Young Adulthood. ( 26997877 )
2016
50
Soluble Urokinase Receptors in Focal Segmental Glomerulosclerosis: A Review on the Scientific Point of View. ( 27504461 )
2016

Variations for Focal Segmental Glomerulosclerosis

ClinVar genetic disease variations for Focal Segmental Glomerulosclerosis:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 SMARCAL1 NM_014140.3(SMARCAL1): c.2542G> T (p.Glu848Ter) single nucleotide variant Pathogenic rs119473033 GRCh37 Chromosome 2, 217342939: 217342939
2 MED12 NM_005120.2(MED12): c.2881C> T (p.Arg961Trp) single nucleotide variant Pathogenic rs80338758 GRCh37 Chromosome X, 70347217: 70347217
3 MED12 NM_005120.2(MED12): c.2873G> A (p.Gly958Glu) single nucleotide variant Pathogenic rs397515554 GRCh37 Chromosome X, 70347209: 70347209
4 MED12 NM_005120.2(MED12): c.4147G> A (p.Ala1383Thr) single nucleotide variant Pathogenic rs863223696 GRCh37 Chromosome X, 70351950: 70351950
5 MED12 NM_005120.2(MED12): c.2444G> A (p.Arg815Gln) single nucleotide variant Pathogenic rs762905361 GRCh38 Chromosome X, 71126057: 71126057
6 MED12 NM_005120.2(MED12): c.3067A> G (p.Ile1023Val) single nucleotide variant Pathogenic rs879255526 GRCh37 Chromosome X, 70347828: 70347828
7 MED12 NM_005120.2(MED12): c.5898dupC (p.Ser1967GlnfsTer84) duplication Pathogenic rs879255527 GRCh37 Chromosome X, 70357647: 70357647
8 MED12 NM_005120.2(MED12): c.5922G> T (p.Gln1974His) single nucleotide variant Pathogenic rs879255528 GRCh37 Chromosome X, 70357671: 70357671
9 SMARCAL1 NM_001127207.1(SMARCAL1): c.723C> A (p.Cys241Ter) single nucleotide variant Pathogenic rs748106387 GRCh38 Chromosome 2, 216415427: 216415427

Expression for Focal Segmental Glomerulosclerosis

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

Pathways for Focal Segmental Glomerulosclerosis

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

id Super pathways Score Top Affiliating Genes
1 11.42 ACTN4 COL4A3 LAMB2
2 11.37 ACTN4 CD2AP CDKN1C COL4A3 INF2 LAMB2
3 10.67 ACTN4 CD2AP NPHS1
4 10.67 CD2AP NPHS1 NPHS2 TRPC6

GO Terms for Focal Segmental Glomerulosclerosis

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

id Name GO ID Score Top Affiliating Genes
1 protein complex GO:0043234 9.63 ACTN4 CD2AP CRB2 MYH9 NPHS2 PAX2
2 cell-cell junction GO:0005911 9.62 ACTN4 CD2AP MYO1E NPHS2
3 brush border GO:0005903 9.54 ACTN4 MYH9 MYO1E
4 cortical cytoskeleton GO:0030863 9.43 ACTN4 MYH9
5 actomyosin contractile ring GO:0005826 9.26 ANLN MYH9
6 slit diaphragm GO:0036057 9.13 NPHS1 NPHS2 TRPC6
7 actin cytoskeleton GO:0015629 9.1 ACTN4 ANLN CD2AP MYH9 MYO1E SYNPO
8 extracellular exosome GO:0070062 10.06 ACTN4 CD2AP CRB2 LAMB2 MYH9 MYO1E

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

(show all 14)
id Name GO ID Score Top Affiliating Genes
1 kidney development GO:0001822 9.69 CDKN1C MYO1E WT1
2 myoblast fusion GO:0007520 9.54 MYH9 NPHS1
3 adrenal gland development GO:0030325 9.52 CDKN1C WT1
4 camera-type eye development GO:0043010 9.5 CDKN1C PAX2 WT1
5 actin filament-based movement GO:0030048 9.49 MYH9 MYO1E
6 regulation of exit from mitosis GO:0007096 9.48 ANLN CDKN1C
7 glomerulus development GO:0032835 9.46 PTPRO WT1
8 glomerular visceral epithelial cell development GO:0072015 9.43 MYO1E NPHS1
9 mesenchymal to epithelial transition GO:0060231 9.4 PAX2 WT1
10 metanephric mesenchyme development GO:0072075 9.37 PAX2 WT1
11 glomerular visceral epithelial cell differentiation GO:0072112 9.26 PTPRO WT1
12 metanephric epithelium development GO:0072207 9.16 PAX2 WT1
13 metanephric glomerular visceral epithelial cell development GO:0072249 8.96 LAMB2 NPHS2
14 glomerular basement membrane development GO:0032836 8.92 COL4A3 MYO1E NPHS1 WT1

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

id Name GO ID Score Top Affiliating Genes
1 actin filament binding GO:0051015 9.43 ACTN4 MYH9 MYO1E
2 actin binding GO:0003779 9.17 ACTN4 ANLN INF2 MYH9 MYO1E SYNPO
3 microfilament motor activity GO:0000146 9.16 MYH9 MYO1E
4 integrin binding GO:0005178 9.13 ACTN4 COL4A3 LAMB2

Sources for Focal Segmental Glomerulosclerosis

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
Content
Loading form....