MCID: IGN004
MIFTS: 16

Iga Nephropathy 3

Categories: Genetic diseases, Nephrological diseases

Aliases & Classifications for Iga Nephropathy 3

MalaCards integrated aliases for Iga Nephropathy 3:

Name: Iga Nephropathy 3 57 75
Iga Nephropathy, Susceptibility to, 3 57 6
Igan3 57 75

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

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


HPO:

32
iga nephropathy 3:
Inheritance autosomal dominant inheritance
Onset and clinical course progressive young adult onset


Classifications:



Summaries for Iga Nephropathy 3

UniProtKB/Swiss-Prot : 75 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 proteinuria and hematuria

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 10.0

Symptoms & Phenotypes for Iga Nephropathy 3

Symptoms via clinical synopsis from OMIM:

57
Cardiovascular Vascular:
hypertension

Laboratory Abnormalities:
proteinuria
hematuria

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


Clinical features from OMIM:

616818

Human phenotypes related to Iga Nephropathy 3:

32 (show all 6)
# Description HPO Frequency HPO Source Accession
1 proteinuria 32 very rare (1%) HP:0000093
2 hematuria 32 very rare (1%) HP:0000790
3 iga deposition in the glomerulus 32 HP:0000794
4 hypertension 32 very rare (1%) HP:0000822
5 stage 5 chronic kidney disease 32 very rare (1%) HP:0003774
6 mesangial hypercellularity 32 HP:0012574

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:

41
Kidney

Publications for Iga Nephropathy 3

Variations for Iga Nephropathy 3

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

75
# 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 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
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