FSGS1
MCID: FCL025
MIFTS: 55

Focal Segmental Glomerulosclerosis 1 (FSGS1)

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 15
Fsgs1 57 12 75
Glomerulosclerosis, Focal Segmental, 1 57 13
Glomerulosclerosis, Segmental, Focal, Type 1 40
Segmental Glomerulosclerosis 73

Characteristics:

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:



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 and focal segmental glomerulosclerosis 2. An important gene associated with Focal Segmental Glomerulosclerosis 1 is ACTN4 (Actinin Alpha 4), and among its related pathways/superpathways are Cell junction organization and AGE-RAGE signaling pathway in diabetic complications. The drugs Mycophenolic acid and Prednisone have been mentioned in the context of this disorder. Affiliated tissues include kidney, bone and endothelial, and related phenotypes are hypertension and proteinuria

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 41)
# Related Disease Score Top Affiliating Genes
1 focal segmental glomerulosclerosis 29.9 ACTN4 ARHGAP24 NPHS1
2 focal segmental glomerulosclerosis 2 11.0
3 focal segmental glomerulosclerosis 3 11.0
4 focal segmental glomerulosclerosis 4 11.0
5 focal segmental glomerulosclerosis 5 11.0
6 focal segmental glomerulosclerosis 6 11.0
7 coenzyme q10 deficiency, primary, 6 11.0
8 focal segmental glomerulosclerosis 7 11.0
9 hypoparathyroidism, sensorineural deafness, and renal disease 10.1 ACTN4 NPHS1
10 familial nephrotic syndrome 10.1 ACTN4 NPHS1
11 nephrotic syndrome, type 1 10.1 ACTN4 NPHS1
12 galloway-mowat syndrome 10.1 ACTN4 NPHS1
13 frasier syndrome 10.1 ACTN4 NPHS1
14 acute proliferative glomerulonephritis 10.0 ICAM1 NPHS1
15 membranoproliferative glomerulonephritis 10.0 ICAM1 NPHS1
16 familial idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis 9.9 ACTN4 ARHGAP24 NPHS1
17 diversion colitis 9.9 ICAM1 IL1B
18 actinic prurigo 9.9 ICAM1 IL1B
19 limbal stem cell deficiency 9.9 ICAM1 IL1B
20 extrinsic cardiomyopathy 9.9 ICAM1 IL1B
21 autoimmune uveitis 9.9 ICAM1 IL1B
22 parasitic protozoa infectious disease 9.9 ICAM1 IL1B
23 chronic kidney failure 9.9 ACTN4 ICAM1 NPHS1
24 autoimmune disease of central nervous system 9.9 ICAM1 IL1B
25 allergic contact dermatitis 9.9 ICAM1 IL1B
26 contact dermatitis 9.9 ICAM1 IL1B
27 pulmonary edema 9.9 ICAM1 IL1B
28 upper respiratory tract disease 9.9 ICAM1 IL1B
29 lymphadenitis 9.9 ICAM1 IL1B
30 sleep apnea 9.8 ICAM1 IL1B
31 peritonitis 9.8 ICAM1 IL1B
32 arteries, anomalies of 9.8 ICAM1 IL1B
33 trypanosomiasis 9.8 ICAM1 IL1B
34 alopecia areata 9.8 ICAM1 IL1B
35 immune system disease 9.8 ICAM1 IL1B
36 synovitis 9.8 ICAM1 IL1B
37 proteasome-associated autoinflammatory syndrome 1 9.8 ICAM1 IL1B
38 respiratory system disease 9.8 ICAM1 IL1B
39 demyelinating disease 9.7 ICAM1 IL1B
40 glomerulonephritis 9.7 ICAM1 IL1B NPHS1
41 sarcoidosis 1 9.6 ICAM1 IL1B

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

Drugs & Therapeutics for Focal Segmental Glomerulosclerosis 1

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

(show all 12)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Mycophenolic acid Approved Not Applicable 24280-93-1 446541
2
Prednisone Approved, Vet_approved Not Applicable 53-03-2 5865
3
Tacrolimus Approved, Investigational Not Applicable 104987-11-3 445643 439492
4 Antineoplastic Agents, Hormonal Not Applicable
5 Anti-Inflammatory Agents Not Applicable
6 Hormone Antagonists Not Applicable
7 Calcineurin Inhibitors Not Applicable
8 Immunologic Factors Not Applicable
9 Immunosuppressive Agents Not Applicable
10 glucocorticoids Not Applicable
11 Hormones, Hormone Substitutes, and Hormone Antagonists Not Applicable
12 Hormones Not Applicable

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Therapeutic Effect of Low-dose Prednisone Combined With MMF and FK506 in Focal Segmental Glomerulosclerosis Unknown status NCT00956059 Not Applicable prednisone, FK506, MMF;prednisone

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:

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

Publications for Focal Segmental Glomerulosclerosis 1

Articles related to Focal Segmental Glomerulosclerosis 1:

(show top 50) (show all 1085)
# 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
Mucin-1 Gene Mutation and the Kidney: The Link between Autosomal Dominant Tubulointerstitial Kidney Disease and Focal and Segmental Glomerulosclerosis. ( 30155326 )
2018
27
Hydroxypropyl-β-cyclodextrin protects from kidney disease in experimental Alport syndrome and focal segmental glomerulosclerosis. ( 30301568 )
2018
28
Early Focal Segmental Glomerulosclerosis as a Cause of Delayed Graft Function With Combined Acute Antibody Rejection: A Case Report. ( 30316402 )
2018
29
Intravenous Rituximab in Severe Refractory Primary Focal Segmental Glomerulosclerosis. ( 30333274 )
2018
30
Focal segmental glomerulosclerosis lesion associated with inhibition of tyrosine kinases by lenvatinib: a case report. ( 30340546 )
2018
31
Intravascular lymphoma forming massive aortic tumors complicated with sarcoidosis and focal segmental glomerulosclerosis: a case report and literature review. ( 30373554 )
2018
32
The long noncoding RNA LOC105374325 causes podocyte injury in individuals with focal segmental glomerulosclerosis. ( 30389788 )
2018
33
Generation of two isogenic iPS cell lines (IRFMNi002-A and IRFMNi002-B) from a patient affected by Focal Segmental Glomerulosclerosis carrying a heterozygous c.565G>A mutation in PAX2 gene. ( 30399566 )
2018
34
A Case of Lenvatinib-Induced Focal Segmental Glomerulosclerosis (FSGS) in Metastatic Medullary Thyroid Cancer. ( 30402314 )
2018
35
Successful recovery of associated interstitial nephritis and focal segmental glomerulosclerosis in patients with HCV and HIV treated with sofosbuvir and daclatasvir and revision of literature. ( 30406000 )
2018
36
Apolipoprotein A-Ib as a biomarker of focal segmental glomerulosclerosis recurrence after kidney transplantation: diagnostic performance and assessment of its prognostic value - a multi-centre cohort study. ( 30411406 )
2018
37
New Mutation of Coenzyme Q10 Monooxygenase 6 Causing Podocyte Injury in a Focal Segmental Glomerulosclerosis Patient. ( 30425193 )
2018
38
Serum Metabolic Profiling in a Mouse Model of Adriamycin-Induced Focal Segmental Glomerulosclerosis. ( 30425202 )
2018
39
A Novel CLCN5 Mutation Associated With Focal Segmental Glomerulosclerosis and Podocyte Injury. ( 30426109 )
2018
40
Bone marrow mesenchymal stem cells attenuate the progression of focal segmental glomerulosclerosis in rat models. ( 30466397 )
2018
41
First identification of PODXL nonsense mutations in autosomal dominant focal segmental glomerulosclerosis. ( 30523047 )
2018
42
Inflammatory demyelinating neuropathies with focal segmental glomerulosclerosis: Two case reports. ( 30544390 )
2018
43
Treatment by immunoadsorption for recurrent focal segmental glomerulosclerosis after paediatric kidney transplantation: a multicentre French cohort. ( 28992235 )
2018
44
Mutations in INF2 may be associated with renal histology other than focal segmental glomerulosclerosis. ( 29038887 )
2018
45
Renal Artery Embolization for the Treatment of Refractory Proteinuria in Three Pediatric Patients with Focal Segmental Glomerulosclerosis. ( 29258656 )
2018
46
Alport's syndrome with focal segmental glomerulosclerosis lesion - Pattern to recognize. ( 29456224 )
2018
47
Comment to: Focal segmental glomerulosclerosis associated with mitochondrial disease by Lim et al. in Clin Nephrol Case Stud. 2017; 5: 20-25. ( 29457800 )
2018
48
APOL1 risk genotype in European steroid-resistant nephrotic syndrome and/or focal segmental glomerulosclerosis patients of different African ancestries. ( 29992269 )
2018
49
Case of human immunodeficiency virus infection presenting as a tip variant of focal segmental glomerulosclerosis: A case report and review of the literature. ( 30090707 )
2018
50
JAK-STAT signaling is activated in the kidney and peripheral blood cells of patients with focal segmental glomerulosclerosis. ( 30093081 )
2018

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

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 focal adhesion GO:0005925 8.8 ACTN4 ARHGAP24 ICAM1

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

# Name GO ID Score Top Affiliating Genes
1 cellular response to glucose stimulus GO:0071333 9.37 ICAM1 IL1B
2 positive regulation of NIK/NF-kappaB signaling GO:1901224 9.32 ACTN4 IL1B
3 positive regulation of actin filament polymerization GO:0030838 9.26 ICAM1 NPHS1
4 positive regulation of nitric oxide biosynthetic process GO:0045429 9.16 ICAM1 IL1B
5 cellular response to organic substance GO:0071310 8.96 ICAM1 IL1B
6 response to hypoxia GO:0001666 8.8 ACTN4 ICAM1 IL1B

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 8.92 ACTN4 CDH17 ICAM1 IL1B

Sources for Focal Segmental Glomerulosclerosis 1

3 CDC
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