IGAN3
MCID: IGN004
MIFTS: 23

Iga Nephropathy 3 (IGAN3)

Categories: Genetic diseases, Immune diseases, Nephrological diseases

Aliases & Classifications for Iga Nephropathy 3

MalaCards integrated aliases for Iga Nephropathy 3:

Name: Iga Nephropathy 3 57 72
Iga Nephropathy, Susceptibility to, 3 57 29 6
Igan3 57 72

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal dominant

Miscellaneous:
progressive disorder
onset after age 20 years
one family of sicilian origin has been reported (last curated february 2016)


HPO:

31
iga nephropathy 3:
Inheritance autosomal dominant inheritance
Onset and clinical course progressive young adult onset


Classifications:



Summaries for Iga Nephropathy 3

UniProtKB/Swiss-Prot : 72 IgA nephropathy 3: A form of IgA nephropathy, a common primary glomerulonephritis characterized by glomerular sclerosis, interstitial fibrosis, and mesangial glomerular deposits of immunoglobulin A and immunoglobulin G visible on renal biopsies. IgA nephropathy is associated with renal insufficiency that can progress to end-stage renal disease. Proteinuria and hematuria are characteristic clinical presentations.

MalaCards based summary : Iga Nephropathy 3, also known as iga nephropathy, susceptibility to, 3, is related to iga nephropathy 2 and proteinuria, chronic benign. An important gene associated with Iga Nephropathy 3 is SPRY2 (Sprouty RTK Signaling Antagonist 2). Affiliated tissues include kidney, and related phenotypes are hypertension and proteinuria

More information from OMIM: 616818 PS161950

Related Diseases for Iga Nephropathy 3

Diseases in the Iga Nephropathy 1 family:

Iga Nephropathy 2 Iga Nephropathy 3

Diseases related to Iga Nephropathy 3 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 iga nephropathy 2 9.9
2 proteinuria, chronic benign 9.9
3 iga glomerulonephritis 9.9

Symptoms & Phenotypes for Iga Nephropathy 3

Human phenotypes related to Iga Nephropathy 3:

31 (show all 6)
# Description HPO Frequency HPO Source Accession
1 hypertension 31 very rare (1%) HP:0000822
2 proteinuria 31 very rare (1%) HP:0000093
3 hematuria 31 very rare (1%) HP:0000790
4 stage 5 chronic kidney disease 31 very rare (1%) HP:0003774
5 mesangial hypercellularity 31 HP:0012574
6 iga deposition in the glomerulus 31 HP:0000794

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Cardiovascular Vascular:
hypertension

Genitourinary Kidneys:
iga nephropathy
end-stage renal disease (in some patients)
iga deposition in the kidneys

Laboratory Abnormalities:
proteinuria
hematuria

Clinical features from OMIM®:

616818 (Updated 20-May-2021)

Drugs & Therapeutics for Iga Nephropathy 3

Search Clinical Trials , NIH Clinical Center for Iga Nephropathy 3

Genetic Tests for Iga Nephropathy 3

Genetic tests related to Iga Nephropathy 3:

# Genetic test Affiliating Genes
1 Iga Nephropathy, Susceptibility to, 3 29 SPRY2

Anatomical Context for Iga Nephropathy 3

MalaCards organs/tissues related to Iga Nephropathy 3:

40
Kidney

Publications for Iga Nephropathy 3

Articles related to Iga Nephropathy 3:

(show all 16)
# Title Authors PMID Year
1
A SPRY2 mutation leading to MAPK/ERK pathway inhibition is associated with an autosomal dominant form of IgA nephropathy. 57 6
25782674 2015
2
Renal involvement in primary Sjogren's syndrome: a prospective cohort study. 61
30155666 2018
3
Search for genetic association between IgA nephropathy and candidate genes selected by function or by gene mapping at loci IGAN2 and IGAN3. 61
22131235 2012
4
The pathogenesis of IgA nephropathy: what is new and how does it change therapeutic approaches? 61
21872377 2011
5
[Glomerulopathies as causes of end-stage renal disease in children]. 61
19580193 2009
6
[Renal involvement in ankylosing spondylitis: concerning 210 cases]. 61
16236389 2005
7
Treatment with cyclophosphamide in elderly-onset nephrotic syndrome. 61
15886494 2005
8
Renal allograft glomerulopathy and the value of immunohistochemistry. 61
15524058 2004
9
Effect of oral camostat mesilate on hematuria and/or proteinuria in children. 61
14740285 2004
10
[Renal histological lesions in patients with type II diabetes mellitus]. 61
12085417 2002
11
Glomerular deposition of mannose-binding lectin in human glomerulonephritis. 61
10328463 1999
12
Effects of tonsillectomy in children with IgA nephropathy, purpura nephritis, or other chronic glomerulonephritides. 61
9082773 1996
13
Familial occurrence of primary glomerulonephritis: evidence for a role of genetic factors. 61
1323067 1992
14
Renal expression of intercellular adhesion molecule-1 in different forms of glomerulonephritis. 61
1682080 1991
15
[Detection of glomerular deposits of various renal diseases on light microscopy using periodic acid thionin [PATS]-chromotrope staining]. 61
1770628 1991
16
Asymptomatic constant isolated proteinuria in children. 61
1880649 1991

Variations for Iga Nephropathy 3

ClinVar genetic disease variations for Iga Nephropathy 3:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 SPRY2 NM_005842.4(SPRY2):c.355C>T (p.Arg119Trp) SNV risk factor 222032 rs869025336 GRCh37: 13:80911486-80911486
GRCh38: 13:80337351-80337351
2 SPRY2 NM_005842.4(SPRY2):c.410G>C (p.Gly137Ala) SNV Uncertain significance 1028429 GRCh37: 13:80911431-80911431
GRCh38: 13:80337296-80337296

UniProtKB/Swiss-Prot genetic disease variations for Iga Nephropathy 3:

72
# Symbol AA change Variation ID SNP ID
1 SPRY2 p.Arg119Trp VAR_076288 rs869025336

Expression for Iga Nephropathy 3

Search GEO for disease gene expression data for Iga Nephropathy 3.

Pathways for Iga Nephropathy 3

GO Terms for Iga Nephropathy 3

Sources for Iga Nephropathy 3

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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