MCID: FCL082
MIFTS: 22

Focal Segmental Glomerulosclerosis 4

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 57 75
Focal Segmental Glomerulosclerosis 4, Susceptibility to 57 29 6
End-Stage Renal Disease, Nondiabetic, Susceptibility to 57 13
Fsgs4 57 75
End-Stage Renal Disease, Nondiabetic, Susceptibility to, Included 57
Glomerulosclerosis, Segmental, Focal, Type 4, Susceptibility to 40
Glomerulosclerosis, Focal Segmental, 4, Susceptibility to 57
Sporadic Idiopathic Steroid-Resistant Nephrotic Syndrome 59
End-Stage Renal Disease, Nondiabetic Included 57
Glomerulosclerosis, Focal Segmental, 4 57
End-Stage Renal Disease, Nondiabetic 57
Sporadic Idiopathic Nephrosis 59

Characteristics:

Orphanet epidemiological data:

59
sporadic idiopathic steroid-resistant nephrotic syndrome
Inheritance: Not applicable; Age of onset: Childhood;

HPO:

32
focal segmental glomerulosclerosis 4:
Inheritance polygenic inheritance


Classifications:

Orphanet: 59  
Rare renal diseases


External Ids:

OMIM 57 612551
Orphanet 59 ORPHA84271
ICD10 via Orphanet 34 N04.1 N04.3 N04.8
MedGen 42 C2675525
MeSH 44 D005923
SNOMED-CT via HPO 69 236403004 25821008 433146000

Summaries for Focal Segmental Glomerulosclerosis 4

OMIM : 57 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, also known as focal segmental glomerulosclerosis 4, susceptibility to, is related to sporadic idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis and sporadic idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial proliferation. An important gene associated with Focal Segmental Glomerulosclerosis 4 is APOL1 (Apolipoprotein L1). Affiliated tissues include kidney, and related phenotypes are focal segmental glomerulosclerosis and stage 5 chronic kidney disease

UniProtKB/Swiss-Prot : 75 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

Graphical network of the top 20 diseases related to Focal Segmental Glomerulosclerosis 4:



Diseases related to Focal Segmental Glomerulosclerosis 4

Symptoms & Phenotypes for Focal Segmental Glomerulosclerosis 4

Clinical features from OMIM:

612551

Human phenotypes related to Focal Segmental Glomerulosclerosis 4:

32
# Description HPO Frequency HPO Source Accession
1 focal segmental glomerulosclerosis 32 HP:0000097
2 stage 5 chronic kidney disease 32 HP:0003774

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:

41
Kidney

Publications for Focal Segmental Glomerulosclerosis 4

Variations for Focal Segmental Glomerulosclerosis 4

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

75
# Symbol AA change Variation ID SNP ID
1 APOL1 p.Ile384Met VAR_061995 rs60910145
2 APOL1 p.Ser342Gly VAR_063598 rs73885319

ClinVar genetic disease variations for Focal Segmental Glomerulosclerosis 4:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 APOL1 NM_145343.2(APOL1): c.1212_1217delTTATAA (p.Asn404_Tyr405del) deletion risk factor rs71785313 GRCh37 Chromosome 22, 36662046: 36662051
2 APOL1 NM_145343.2(APOL1): c.1212_1217delTTATAA (p.Asn404_Tyr405del) deletion risk factor rs71785313 GRCh38 Chromosome 22, 36266000: 36266005

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 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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