FSGS4
MCID: FCL082
MIFTS: 22

Focal Segmental Glomerulosclerosis 4 (FSGS4)

Categories: Genetic diseases, Nephrological diseases, Rare diseases

Aliases & Classifications for Focal Segmental Glomerulosclerosis 4

MalaCards integrated aliases for Focal Segmental Glomerulosclerosis 4:

Name: Focal Segmental Glomerulosclerosis 4 56 73
Focal Segmental Glomerulosclerosis 4, Susceptibility to 56 29 6
End-Stage Renal Disease, Nondiabetic, Susceptibility to 56 13
Fsgs4 56 73
End-Stage Renal Disease, Nondiabetic, Susceptibility to, Included 56
Glomerulosclerosis, Segmental, Focal, Type 4, Susceptibility to 39
Glomerulosclerosis, Focal Segmental, 4, Susceptibility to 56
End-Stage Renal Disease, Nondiabetic Included 56
Glomerulosclerosis, Focal Segmental, 4 56
End-Stage Renal Disease, Nondiabetic 56

Characteristics:

HPO:

31
focal segmental glomerulosclerosis 4:
Inheritance polygenic inheritance


Classifications:



External Ids:

OMIM 56 612551
OMIM Phenotypic Series 56 PS603278
MeSH 43 D005923
MedGen 41 C2675525
SNOMED-CT via HPO 68 236403004 25821008 433146000

Summaries for Focal Segmental Glomerulosclerosis 4

OMIM : 56 Focal segmental glomerulosclerosis (FSGS) is a pathologic entity associated clinically with proteinuria, the nephrotic syndrome (NPHS), and progressive loss of renal function. It is a common cause of end-stage renal disease (ESRD) (Meyrier, 2005). For a general phenotypic description and a discussion of genetic heterogeneity of focal segmental glomerulosclerosis and nephrotic syndrome, see FSGS1 (603278). (612551)

MalaCards based summary : Focal Segmental Glomerulosclerosis 4, is also known as focal segmental glomerulosclerosis 4, susceptibility to. An important gene associated with Focal Segmental Glomerulosclerosis 4 is APOL1 (Apolipoprotein L1). Affiliated tissues include kidney and heart, and related phenotypes are stage 5 chronic kidney disease and focal segmental glomerulosclerosis

UniProtKB/Swiss-Prot : 73 Focal segmental glomerulosclerosis 4: 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 4

Symptoms & Phenotypes for Focal Segmental Glomerulosclerosis 4

Human phenotypes related to Focal Segmental Glomerulosclerosis 4:

31
# Description HPO Frequency HPO Source Accession
1 stage 5 chronic kidney disease 31 HP:0003774
2 focal segmental glomerulosclerosis 31 HP:0000097

Clinical features from OMIM:

612551

Drugs & Therapeutics for Focal Segmental Glomerulosclerosis 4

Search Clinical Trials , NIH Clinical Center for Focal Segmental Glomerulosclerosis 4

Genetic Tests for Focal Segmental Glomerulosclerosis 4

Genetic tests related to Focal Segmental Glomerulosclerosis 4:

# Genetic test Affiliating Genes
1 Focal Segmental Glomerulosclerosis 4, Susceptibility to 29 APOL1

Anatomical Context for Focal Segmental Glomerulosclerosis 4

MalaCards organs/tissues related to Focal Segmental Glomerulosclerosis 4:

40
Kidney, Heart

Publications for Focal Segmental Glomerulosclerosis 4

Articles related to Focal Segmental Glomerulosclerosis 4:

(show all 12)
# Title Authors PMID Year
1
APOL1 risk variants, race, and progression of chronic kidney disease. 6 56
24206458 2013
2
Association of trypanolytic ApoL1 variants with kidney disease in African Americans. 6 56
20647424 2010
3
Unique X-linked familial FSGS with co-segregating heart block disorder is associated with a mutation in the NXF5 gene. 6
23686279 2013
4
MYH9 is associated with nondiabetic end-stage renal disease in African Americans. 56
18794854 2008
5
MYH9 is a major-effect risk gene for focal segmental glomerulosclerosis. 56
18794856 2008
6
Mechanisms of disease: focal segmental glomerulosclerosis. 56
16932363 2005
7
[Clinical-pathological characteristics of IgM nephropathy in 34 children]. 61
20497638 2010
8
Glomerular deposition of mannose-binding lectin in human glomerulonephritis. 61
10328463 1999
9
Clinical and histopathologic examination of renal allografts treated with tacrolimus (FK506) for at least one year. 61
9855119 1998
10
Nephrotic syndrome associated with acquired immunodeficiency syndrome in children. 61
1941375 1991
11
Renal expression of intercellular adhesion molecule-1 in different forms of glomerulonephritis. 61
1682080 1991
12
Asymptomatic constant isolated proteinuria in children. 61
1880649 1991

Variations for Focal Segmental Glomerulosclerosis 4

ClinVar genetic disease variations for Focal Segmental Glomerulosclerosis 4:

6 ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 APOL1 NM_003661.4(APOL1):c.1024A>G (p.Ser342Gly)SNV Pathogenic 277678 rs73885319 22:36661906-36661906 22:36265860-36265860
2 APOL1 NM_003661.4(APOL1):c.1152T>G (p.Ile384Met)SNV Pathogenic 127198 rs60910145 22:36662034-36662034 22:36265988-36265988
3 APOL1 NM_003661.4(APOL1):c.1164_1169del (p.Asn388_Tyr389del)deletion risk factor 6081 rs71785313 22:36662042-36662047 22:36265996-36266001
4 APOL1 NM_003661.4(APOL1):c.976A>G (p.Ile326Val)SNV risk factor 634949 rs1569534160 22:36661858-36661858 22:36265812-36265812
5 APOL1 NM_003661.4(APOL1):c.1104T>G (p.Ala368=)SNV risk factor 634950 rs1428826948 22:36661986-36661986 22:36265940-36265940

UniProtKB/Swiss-Prot genetic disease variations for Focal Segmental Glomerulosclerosis 4:

73
# Symbol AA change Variation ID SNP ID
1 APOL1 p.Ile384Met VAR_061995 rs60910145
2 APOL1 p.Ser342Gly VAR_063598 rs73885319

Expression for Focal Segmental Glomerulosclerosis 4

Search GEO for disease gene expression data for Focal Segmental Glomerulosclerosis 4.

Pathways for Focal Segmental Glomerulosclerosis 4

GO Terms for Focal Segmental Glomerulosclerosis 4

Sources for Focal Segmental Glomerulosclerosis 4

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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