FSGS3
MCID: FCL027
MIFTS: 20

Focal Segmental Glomerulosclerosis 3 (FSGS3)

Categories: Genetic diseases, Nephrological diseases, Rare diseases

Aliases & Classifications for Focal Segmental Glomerulosclerosis 3

MalaCards integrated aliases for Focal Segmental Glomerulosclerosis 3:

Name: Focal Segmental Glomerulosclerosis 3 58 76 30 6
Focal Segmental Glomerulosclerosis 3, Susceptibility to 58 30 6
Glomerulosclerosis, Focal Segmental, 3 58 13
Fsgs3 58 76
Glomerulosclerosis, Segmental, Focal, Type 3, Susceptibility to 41
Glomerulosclerosis, Focal Segmental, 3, Susceptibility to 58

Classifications:



Summaries for Focal Segmental Glomerulosclerosis 3

OMIM : 58 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). (607832)

MalaCards based summary : Focal Segmental Glomerulosclerosis 3, is also known as focal segmental glomerulosclerosis 3, susceptibility to. An important gene associated with Focal Segmental Glomerulosclerosis 3 is CD2AP (CD2 Associated Protein). Affiliated tissues include kidney, and related phenotypes are hypertension and renal insufficiency

UniProtKB/Swiss-Prot : 76 Focal segmental glomerulosclerosis 3: 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 3

Symptoms & Phenotypes for Focal Segmental Glomerulosclerosis 3

Human phenotypes related to Focal Segmental Glomerulosclerosis 3:

33
# Description HPO Frequency HPO Source Accession
1 hypertension 33 HP:0000822
2 renal insufficiency 33 HP:0000083
3 proteinuria 33 HP:0000093
4 hematuria 33 HP:0000790
5 focal segmental glomerulosclerosis 33 HP:0000097

Clinical features from OMIM:

607832

Drugs & Therapeutics for Focal Segmental Glomerulosclerosis 3

Search Clinical Trials , NIH Clinical Center for Focal Segmental Glomerulosclerosis 3

Genetic Tests for Focal Segmental Glomerulosclerosis 3

Genetic tests related to Focal Segmental Glomerulosclerosis 3:

# Genetic test Affiliating Genes
1 Focal Segmental Glomerulosclerosis 3 30
2 Focal Segmental Glomerulosclerosis 3, Susceptibility to 30 CD2AP

Anatomical Context for Focal Segmental Glomerulosclerosis 3

MalaCards organs/tissues related to Focal Segmental Glomerulosclerosis 3:

42
Kidney

Publications for Focal Segmental Glomerulosclerosis 3

Articles related to Focal Segmental Glomerulosclerosis 3:

# Title Authors Year
1
Focal segmental glomerulosclerosis in a patient homozygous for a CD2AP mutation. ( 17713465 )
2007
2
CD2-associated protein haploinsufficiency is linked to glomerular disease susceptibility. ( 12764198 )
2003

Variations for Focal Segmental Glomerulosclerosis 3

ClinVar genetic disease variations for Focal Segmental Glomerulosclerosis 3:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 CD2AP NM_012120.2(CD2AP): c.730-1_730delGCinsCT indel Pathogenic rs1554181304 GRCh37 Chromosome 6, 47544259: 47544260
2 CD2AP NM_012120.2(CD2AP): c.730-1_730delGCinsCT indel Pathogenic rs1554181304 GRCh38 Chromosome 6, 47576523: 47576524
3 CD2AP NM_012120.2(CD2AP): c.1834C> T (p.Arg612Ter) single nucleotide variant Pathogenic rs267606710 GRCh37 Chromosome 6, 47580228: 47580228
4 CD2AP NM_012120.2(CD2AP): c.1834C> T (p.Arg612Ter) single nucleotide variant Pathogenic rs267606710 GRCh38 Chromosome 6, 47612492: 47612492
5 CD2AP NM_012120.2(CD2AP): c.1204C> T (p.Leu402=) single nucleotide variant Benign rs2039503 GRCh38 Chromosome 6, 47595956: 47595956
6 CD2AP NM_012120.2(CD2AP): c.1204C> T (p.Leu402=) single nucleotide variant Benign rs2039503 GRCh37 Chromosome 6, 47563692: 47563692
7 CD2AP NM_012120.2(CD2AP): c.682C> T (p.Arg228Trp) single nucleotide variant Likely benign rs150851309 GRCh37 Chromosome 6, 47541940: 47541940
8 CD2AP NM_012120.2(CD2AP): c.682C> T (p.Arg228Trp) single nucleotide variant Likely benign rs150851309 GRCh38 Chromosome 6, 47574204: 47574204
9 CD2AP NM_012120.2(CD2AP): c.1045+1G> A single nucleotide variant Pathogenic rs1393955970 GRCh37 Chromosome 6, 47548637: 47548637
10 CD2AP NM_012120.2(CD2AP): c.1045+1G> A single nucleotide variant Pathogenic rs1393955970 GRCh38 Chromosome 6, 47580901: 47580901

Expression for Focal Segmental Glomerulosclerosis 3

Search GEO for disease gene expression data for Focal Segmental Glomerulosclerosis 3.

Pathways for Focal Segmental Glomerulosclerosis 3

GO Terms for Focal Segmental Glomerulosclerosis 3

Sources for Focal Segmental Glomerulosclerosis 3

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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