FSGS3
MCID: FCL027
MIFTS: 26

Focal Segmental Glomerulosclerosis 3 (FSGS3)

Categories: Genetic diseases, Immune 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 12 72 29 6
Focal Segmental Glomerulosclerosis 3, Susceptibility to 57 29 6
Fsgs3 57 12 72
Glomerulosclerosis, Focal Segmental, 3 57 13
Glomerulosclerosis, Segmental, Focal, Type 3, Susceptibility to 39
Glomerulosclerosis, Focal Segmental, 3, Susceptibility to 57

Classifications:



External Ids:

Disease Ontology 12 DOID:0112245
OMIM® 57 607832
OMIM Phenotypic Series 57 PS603278
MeSH 44 D005923

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) (Updated 20-May-2021)

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

Disease Ontology : 12 A focal segmental glomerulosclerosis that has material basis in loss of function mutation in CD2AP on chromosome 6p12.3.

UniProtKB/Swiss-Prot : 72 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:

31
# Description HPO Frequency HPO Source Accession
1 hypertension 31 HP:0000822
2 proteinuria 31 HP:0000093
3 renal insufficiency 31 HP:0000083
4 hematuria 31 HP:0000790
5 focal segmental glomerulosclerosis 31 HP:0000097

Clinical features from OMIM®:

607832 (Updated 20-May-2021)

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

Publications for Focal Segmental Glomerulosclerosis 3

Articles related to Focal Segmental Glomerulosclerosis 3:

# Title Authors PMID Year
1
Focal segmental glomerulosclerosis in a patient homozygous for a CD2AP mutation. 6 57
17713465 2007
2
CD2-associated protein haploinsufficiency is linked to glomerular disease susceptibility. 57 6
12764198 2003
3
Mechanisms of disease: focal segmental glomerulosclerosis. 57
16932363 2005
4
Low-dose rituximab induction therapy is effective in immunological high-risk renal transplantation without increasing cytomegalovirus infection. 61
33012030 2020
5
Unmasking of complements using proteinase-K in formalin fixed paraffin embedded renal biopsies. 61
27194832 2016
6
A Pilot Study of IL2 in Drug-Resistant Idiopathic Nephrotic Syndrome. 61
26413873 2015
7
FSGS3/CD2AP is a barbed-end capping protein that stabilizes actin and strengthens adherens junctions. 61
24322428 2013
8
Glomerular lesions in HIV-positive patients: a 20-year biopsy experience from Northern Italy. 61
19640386 2009
9
The expanding spectrum of renal diseases associated with antiphospholipid syndrome. 61
12776272 2003
10
Mitochondrial encephalomyopathies preceded by de-Toni-Debré-Fanconi syndrome or focal segmental glomerulosclerosis. 61
8953126 1996

Variations for Focal Segmental Glomerulosclerosis 3

ClinVar genetic disease variations for Focal Segmental Glomerulosclerosis 3:

6 (show top 50) (show all 107)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 CD2AP NM_012120.3(CD2AP):c.1045+1G>A SNV Pathogenic 522522 rs1393955970 GRCh37: 6:47548637-47548637
GRCh38: 6:47580901-47580901
2 CD2AP NM_012120.3(CD2AP):c.1834C>T (p.Arg612Ter) SNV Pathogenic 5704 rs267606710 GRCh37: 6:47580228-47580228
GRCh38: 6:47612492-47612492
3 CD2AP NM_012120.3(CD2AP):c.730-1_730delinsCT Indel Pathogenic 5703 rs1554181304 GRCh37: 6:47544259-47544260
GRCh38: 6:47576523-47576524
4 CD2AP NM_012120.3(CD2AP):c.764dup (p.Ser256fs) Duplication Likely pathogenic 931125 GRCh37: 6:47544293-47544294
GRCh38: 6:47576557-47576558
5 CD2AP NM_012120.3(CD2AP):c.1569_1571AGA[2] (p.Glu525del) Microsatellite Likely pathogenic 357176 rs545551160 GRCh37: 6:47575700-47575702
GRCh38: 6:47607964-47607966
6 CD2AP NM_012120.3(CD2AP):c.1516A>G (p.Asn506Asp) SNV Uncertain significance 635481 rs1582617802 GRCh37: 6:47573999-47573999
GRCh38: 6:47606263-47606263
7 CD2AP NM_012120.3(CD2AP):c.670T>C (p.Ser224Pro) SNV Uncertain significance 830024 rs1582577489 GRCh37: 6:47541928-47541928
GRCh38: 6:47574192-47574192
8 CD2AP NM_012120.3(CD2AP):c.542-11T>C SNV Uncertain significance 908587 GRCh37: 6:47541789-47541789
GRCh38: 6:47574053-47574053
9 CD2AP NM_012120.3(CD2AP):c.675G>A (p.Val225=) SNV Uncertain significance 908588 GRCh37: 6:47541933-47541933
GRCh38: 6:47574197-47574197
10 CD2AP NM_012120.3(CD2AP):c.400A>G (p.Ile134Val) SNV Uncertain significance 357165 rs747832531 GRCh37: 6:47512422-47512422
GRCh38: 6:47544686-47544686
11 CD2AP NM_012120.3(CD2AP):c.*1927T>G SNV Uncertain significance 357220 rs886061543 GRCh37: 6:47593890-47593890
GRCh38: 6:47626154-47626154
12 CD2AP NM_012120.3(CD2AP):c.*166A>G SNV Uncertain significance 908653 GRCh37: 6:47592129-47592129
GRCh38: 6:47624393-47624393
13 CD2AP NM_012120.3(CD2AP):c.*297T>A SNV Uncertain significance 908654 GRCh37: 6:47592260-47592260
GRCh38: 6:47624524-47624524
14 CD2AP NM_012120.3(CD2AP):c.*326T>A SNV Uncertain significance 908655 GRCh37: 6:47592289-47592289
GRCh38: 6:47624553-47624553
15 CD2AP NM_012120.3(CD2AP):c.*2309T>G SNV Uncertain significance 908715 GRCh37: 6:47594272-47594272
GRCh38: 6:47626536-47626536
16 CD2AP NM_012120.3(CD2AP):c.*2321C>G SNV Uncertain significance 908716 GRCh37: 6:47594284-47594284
GRCh38: 6:47626548-47626548
17 CD2AP NM_012120.3(CD2AP):c.*2394A>G SNV Uncertain significance 908717 GRCh37: 6:47594357-47594357
GRCh38: 6:47626621-47626621
18 CD2AP NM_012120.3(CD2AP):c.757A>G (p.Lys253Glu) SNV Uncertain significance 909444 GRCh37: 6:47544287-47544287
GRCh38: 6:47576551-47576551
19 CD2AP NM_012120.3(CD2AP):c.326A>G (p.Lys109Arg) SNV Uncertain significance 357164 rs886061518 GRCh37: 6:47512348-47512348
GRCh38: 6:47544612-47544612
20 CD2AP NM_012120.3(CD2AP):c.*1606G>A SNV Uncertain significance 357219 rs886061542 GRCh37: 6:47593569-47593569
GRCh38: 6:47625833-47625833
21 CD2AP NM_012120.3(CD2AP):c.530A>G (p.Gln177Arg) SNV Uncertain significance 357167 rs886061520 GRCh37: 6:47522491-47522491
GRCh38: 6:47554755-47554755
22 CD2AP NM_012120.3(CD2AP):c.-438C>T SNV Uncertain significance 357151 rs191920077 GRCh37: 6:47445543-47445543
GRCh38: 6:47477807-47477807
23 CD2AP NM_012120.3(CD2AP):c.*496A>G SNV Uncertain significance 357208 rs9463343 GRCh37: 6:47592459-47592459
GRCh38: 6:47624723-47624723
24 CD2AP NM_012120.3(CD2AP):c.-130C>G SNV Uncertain significance 357160 rs886061516 GRCh37: 6:47445851-47445851
GRCh38: 6:47478115-47478115
25 CD2AP NM_012120.3(CD2AP):c.*2445C>T SNV Uncertain significance 357231 rs886061550 GRCh37: 6:47594408-47594408
GRCh38: 6:47626672-47626672
26 CD2AP NM_012120.3(CD2AP):c.1633-6T>A SNV Uncertain significance 357177 rs886061522 GRCh37: 6:47576853-47576853
GRCh38: 6:47609117-47609117
27 CD2AP NM_012120.3(CD2AP):c.541+14T>A SNV Uncertain significance 357168 rs766983546 GRCh37: 6:47522516-47522516
GRCh38: 6:47554780-47554780
28 CD2AP NM_012120.3(CD2AP):c.-329C>T SNV Uncertain significance 357152 rs886061511 GRCh37: 6:47445652-47445652
GRCh38: 6:47477916-47477916
29 CD2AP NM_012120.3(CD2AP):c.*498A>G SNV Uncertain significance 357209 rs36077218 GRCh37: 6:47592461-47592461
GRCh38: 6:47624725-47624725
30 CD2AP NM_012120.3(CD2AP):c.-191G>A SNV Uncertain significance 357158 rs886061514 GRCh37: 6:47445790-47445790
GRCh38: 6:47478054-47478054
31 CD2AP NM_012120.3(CD2AP):c.*492G>A SNV Uncertain significance 357195 rs866946718 GRCh37: 6:47592455-47592455
GRCh38: 6:47624719-47624719
32 CD2AP NM_012120.3(CD2AP):c.*652A>G SNV Uncertain significance 357212 rs886061537 GRCh37: 6:47592615-47592615
GRCh38: 6:47624879-47624879
33 CD2AP NM_012120.3(CD2AP):c.*866C>T SNV Uncertain significance 357215 rs886061539 GRCh37: 6:47592829-47592829
GRCh38: 6:47625093-47625093
34 CD2AP NM_012120.3(CD2AP):c.*2449C>A SNV Uncertain significance 357232 rs878891637 GRCh37: 6:47594412-47594412
GRCh38: 6:47626676-47626676
35 CD2AP NM_012120.3(CD2AP):c.*2118T>A SNV Uncertain significance 357224 rs886061546 GRCh37: 6:47594081-47594081
GRCh38: 6:47626345-47626345
36 CD2AP NM_012120.3(CD2AP):c.*319A>C SNV Uncertain significance 357182 rs532632702 GRCh37: 6:47592282-47592282
GRCh38: 6:47624546-47624546
37 CD2AP NM_012120.3(CD2AP):c.*2232C>T SNV Uncertain significance 357226 rs886061548 GRCh37: 6:47594195-47594195
GRCh38: 6:47626459-47626459
38 CD2AP NM_012120.3(CD2AP):c.*494G>A SNV Uncertain significance 357198 rs867559785 GRCh37: 6:47592457-47592457
GRCh38: 6:47624721-47624721
39 CD2AP NM_012120.3(CD2AP):c.401T>A (p.Ile134Asn) SNV Uncertain significance 357166 rs886061519 GRCh37: 6:47512423-47512423
GRCh38: 6:47544687-47544687
40 CD2AP NM_012120.3(CD2AP):c.*2037C>G SNV Uncertain significance 357221 rs886061544 GRCh37: 6:47594000-47594000
GRCh38: 6:47626264-47626264
41 CD2AP NM_012120.3(CD2AP):c.-197C>T SNV Uncertain significance 357156 rs886061513 GRCh37: 6:47445784-47445784
GRCh38: 6:47478048-47478048
42 CD2AP NM_012120.3(CD2AP):c.*2369G>A SNV Uncertain significance 357230 rs886061549 GRCh37: 6:47594332-47594332
GRCh38: 6:47626596-47626596
43 CD2AP NM_012120.3(CD2AP):c.*452C>G SNV Uncertain significance 357189 rs183129840 GRCh37: 6:47592415-47592415
GRCh38: 6:47624679-47624679
44 CD2AP NM_012120.3(CD2AP):c.-324G>C SNV Uncertain significance 357153 rs886061512 GRCh37: 6:47445657-47445657
GRCh38: 6:47477921-47477921
45 CD2AP NM_012120.3(CD2AP):c.*707G>A SNV Uncertain significance 357213 rs886061538 GRCh37: 6:47592670-47592670
GRCh38: 6:47624934-47624934
46 CD2AP NM_012120.3(CD2AP):c.*2705A>G SNV Uncertain significance 357233 rs775329134 GRCh37: 6:47594668-47594668
GRCh38: 6:47626932-47626932
47 CD2AP NM_012120.3(CD2AP):c.180_181del (p.Glu60fs) Microsatellite Uncertain significance 1027764 GRCh37: 6:47501347-47501348
GRCh38: 6:47533611-47533612
48 CD2AP NM_012120.3(CD2AP):c.902A>T (p.Lys301Met) SNV Uncertain significance 402519 rs141778404 GRCh37: 6:47544838-47544838
GRCh38: 6:47577102-47577102
49 CD2AP NM_012120.3(CD2AP):c.182C>T (p.Thr61Met) SNV Uncertain significance 911542 GRCh37: 6:47501354-47501354
GRCh38: 6:47533618-47533618
50 CD2AP NM_012120.3(CD2AP):c.221G>T (p.Arg74Met) SNV Uncertain significance 911543 GRCh37: 6:47501393-47501393
GRCh38: 6:47533657-47533657

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
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30 HMDB
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56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
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71 UMLS via Orphanet
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