IGAN3
MCID: IGN004
MIFTS: 17

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 58 76
Iga Nephropathy, Susceptibility to, 3 58 6
Igan3 58 76

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant

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


HPO:

33
iga nephropathy 3:
Onset and clinical course young adult onset progressive
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Iga Nephropathy 3

UniProtKB/Swiss-Prot : 76 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 glomerulonephritis. 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

Description from OMIM: 616818

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 glomerulonephritis 10.2

Symptoms & Phenotypes for Iga Nephropathy 3

Human phenotypes related to Iga Nephropathy 3:

33 (show all 6)
# Description HPO Frequency HPO Source Accession
1 hypertension 33 very rare (1%) HP:0000822
2 proteinuria 33 very rare (1%) HP:0000093
3 hematuria 33 very rare (1%) HP:0000790
4 stage 5 chronic kidney disease 33 very rare (1%) HP:0003774
5 iga deposition in the glomerulus 33 HP:0000794
6 mesangial hypercellularity 33 HP:0012574

Symptoms via clinical synopsis from OMIM:

58
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

Drugs & Therapeutics for Iga Nephropathy 3

Search Clinical Trials , NIH Clinical Center for Iga Nephropathy 3

Genetic Tests for Iga Nephropathy 3

Anatomical Context for Iga Nephropathy 3

MalaCards organs/tissues related to Iga Nephropathy 3:

42
Kidney

Publications for Iga Nephropathy 3

Variations for Iga Nephropathy 3

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

76
# Symbol AA change Variation ID SNP ID
1 SPRY2 p.Arg119Trp VAR_076288 rs869025336

ClinVar genetic disease variations for Iga Nephropathy 3:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 SPRY2 NM_005842.3(SPRY2): c.355C> T (p.Arg119Trp) single nucleotide variant risk factor rs869025336 GRCh37 Chromosome 13, 80911486: 80911486
2 SPRY2 NM_005842.3(SPRY2): c.355C> T (p.Arg119Trp) single nucleotide variant risk factor rs869025336 GRCh38 Chromosome 13, 80337351: 80337351

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
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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