MCID: FCL027
MIFTS: 20

Focal Segmental Glomerulosclerosis 3

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 57 75 29 6
Focal Segmental Glomerulosclerosis 3, Susceptibility to 57 29 6
Glomerulosclerosis, Focal Segmental, 3 57 13
Fsgs3 57 75
Glomerulosclerosis, Segmental, Focal, Type 3, Susceptibility to 40
Glomerulosclerosis, Focal Segmental, 3, Susceptibility to 57

Classifications:



Summaries for Focal Segmental Glomerulosclerosis 3

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). (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 renal insufficiency and proteinuria

UniProtKB/Swiss-Prot : 75 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

Clinical features from OMIM:

607832

Human phenotypes related to Focal Segmental Glomerulosclerosis 3:

32
# Description HPO Frequency HPO Source Accession
1 renal insufficiency 32 HP:0000083
2 proteinuria 32 HP:0000093
3 focal segmental glomerulosclerosis 32 HP:0000097
4 hematuria 32 HP:0000790
5 hypertension 32 HP:0000822

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 29
2 Focal Segmental Glomerulosclerosis 3, Susceptibility to 29 CD2AP

Anatomical Context for Focal Segmental Glomerulosclerosis 3

MalaCards organs/tissues related to Focal Segmental Glomerulosclerosis 3:

41
Kidney

Publications for Focal Segmental Glomerulosclerosis 3

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 rs387906340 GRCh37 Chromosome 6, 47544259: 47544260
2 CD2AP NM_012120.2(CD2AP): c.730-1_730delGCinsCT indel Pathogenic rs387906340 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.1045+1G> A single nucleotide variant Pathogenic GRCh37 Chromosome 6, 47548637: 47548637
8 CD2AP NM_012120.2(CD2AP): c.1045+1G> A single nucleotide variant Pathogenic 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 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
Content
Loading form....