MCID: NPH092
MIFTS: 17

Nephrotic Syndrome 15

Categories: Genetic diseases, Nephrological diseases, Rare diseases, Blood diseases, Immune diseases, Metabolic diseases, Endocrine diseases

Aliases & Classifications for Nephrotic Syndrome 15

MalaCards integrated aliases for Nephrotic Syndrome 15:

Name: Nephrotic Syndrome 15 57 12 75 29 6
Nphs15 57 75

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
onset in first months of life
variable progression and severity
some children may require renal transplant
three patients from 2 unrelated families have been reported (last curated august 2017)


Classifications:



External Ids:

OMIM 57 617609
Disease Ontology 12 DOID:0080271
MeSH 44 D009404

Summaries for Nephrotic Syndrome 15

OMIM : 57 NPHS15 is an autosomal recessive renal disorder characterized by onset of impaired kidney function with proteinuria in the first months of life. The disease course and severity varies widely. Some patients show rapid progression to end-stage renal failure necessitating transplant, whereas others have a more benign course that can be managed with medication. Renal biopsy tends to show glomerular sclerosis and effacement of podocyte foot processes (summary by Bierzynska et al., 2017). For a discussion of genetic heterogeneity of nephrotic syndrome and FSGS, see NPHS1 (256300). (617609)

MalaCards based summary : Nephrotic Syndrome 15, is also known as nphs15. An important gene associated with Nephrotic Syndrome 15 is MAGI2 (Membrane Associated Guanylate Kinase, WW And PDZ Domain Containing 2). Affiliated tissues include kidney.

UniProtKB/Swiss-Prot : 75 Nephrotic syndrome 15: A form of nephrotic syndrome, a renal disease clinically characterized by severe proteinuria, resulting in complications such as hypoalbuminemia, hyperlipidemia and edema. Kidney biopsies show non- specific histologic changes such as focal segmental glomerulosclerosis and diffuse mesangial proliferation. NPHS15 is an autosomal recessive form with onset in the first months of life. Disease severity is variable. Some patients show rapid progression to end-stage renal failure.

Related Diseases for Nephrotic Syndrome 15

Symptoms & Phenotypes for Nephrotic Syndrome 15

Symptoms via clinical synopsis from OMIM:

57
Genitourinary Kidneys:
nephrotic syndrome
end-stage renal failure (1 patient)
glomerular sclerosis seen on renal biopsy
glomerular lobulation
interstitial fibrosis
more
Laboratory Abnormalities:
proteinuria
hypoalbuminemia


Clinical features from OMIM:

617609

Drugs & Therapeutics for Nephrotic Syndrome 15

Search Clinical Trials , NIH Clinical Center for Nephrotic Syndrome 15

Genetic Tests for Nephrotic Syndrome 15

Genetic tests related to Nephrotic Syndrome 15:

# Genetic test Affiliating Genes
1 Nephrotic Syndrome 15 29

Anatomical Context for Nephrotic Syndrome 15

MalaCards organs/tissues related to Nephrotic Syndrome 15:

41
Kidney

Publications for Nephrotic Syndrome 15

Variations for Nephrotic Syndrome 15

ClinVar genetic disease variations for Nephrotic Syndrome 15:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 MAGI2 NM_012301.3(MAGI2): c.3998delG (p.Gly1333Alafs) deletion Pathogenic rs1135402911 GRCh38 Chromosome 7, 78019685: 78019685
2 MAGI2 NM_012301.3(MAGI2): c.3998delG (p.Gly1333Alafs) deletion Pathogenic rs1135402911 GRCh37 Chromosome 7, 77649002: 77649002
3 MAGI2 NM_012301.3(MAGI2): c.64_71delAGGAACCC (p.Arg22Glyfs) deletion Pathogenic rs1135402912 GRCh38 Chromosome 7, 79453250: 79453257
4 MAGI2 NM_012301.3(MAGI2): c.64_71delAGGAACCC (p.Arg22Glyfs) deletion Pathogenic rs1135402912 GRCh37 Chromosome 7, 79082566: 79082573
5 MAGI2 NM_012301.3(MAGI2): c.3526_3533dup (p.Glu1178Aspfs) duplication Pathogenic rs1135402913 GRCh38 Chromosome 7, 78125728: 78125735
6 MAGI2 NM_012301.3(MAGI2): c.3526_3533dup (p.Glu1178Aspfs) duplication Pathogenic rs1135402913 GRCh37 Chromosome 7, 77755045: 77755052

Expression for Nephrotic Syndrome 15

Search GEO for disease gene expression data for Nephrotic Syndrome 15.

Pathways for Nephrotic Syndrome 15

GO Terms for Nephrotic Syndrome 15

Sources for Nephrotic Syndrome 15

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....