NPHS15
MCID: NPH103
MIFTS: 20

Nephrotic Syndrome, Type 15 (NPHS15)

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

Aliases & Classifications for Nephrotic Syndrome, Type 15

MalaCards integrated aliases for Nephrotic Syndrome, Type 15:

Name: Nephrotic Syndrome, Type 15 57 75
Nephrotic Syndrome Type 15 29 6
Nephrotic Syndrome 15 12 75
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, Type 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, Type 15, is also known as nephrotic syndrome type 15. An important gene associated with Nephrotic Syndrome, Type 15 is MAGI2 (Membrane Associated Guanylate Kinase, WW And PDZ Domain Containing 2). Affiliated tissues include kidney, and related phenotypes are proteinuria and nephrotic syndrome

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, Type 15

Symptoms & Phenotypes for Nephrotic Syndrome, Type 15

Symptoms via clinical synopsis from OMIM:

57
Laboratory Abnormalities:
proteinuria
hypoalbuminemia

Genitourinary Kidneys:
nephrotic syndrome
interstitial fibrosis
minimal change disease
effacement of podocyte foot processes
end-stage renal failure (1 patient)
more

Clinical features from OMIM:

617609

Human phenotypes related to Nephrotic Syndrome, Type 15:

32
# Description HPO Frequency HPO Source Accession
1 proteinuria 32 HP:0000093
2 nephrotic syndrome 32 HP:0000100
3 stage 5 chronic kidney disease 32 very rare (1%) HP:0003774
4 hypoalbuminemia 32 HP:0003073
5 minimal change glomerulonephritis 32 HP:0012579

Drugs & Therapeutics for Nephrotic Syndrome, Type 15

Search Clinical Trials , NIH Clinical Center for Nephrotic Syndrome, Type 15

Genetic Tests for Nephrotic Syndrome, Type 15

Genetic tests related to Nephrotic Syndrome, Type 15:

# Genetic test Affiliating Genes
1 Nephrotic Syndrome Type 15 29 MAGI2

Anatomical Context for Nephrotic Syndrome, Type 15

MalaCards organs/tissues related to Nephrotic Syndrome, Type 15:

41
Kidney

Publications for Nephrotic Syndrome, Type 15

Variations for Nephrotic Syndrome, Type 15

ClinVar genetic disease variations for Nephrotic Syndrome, Type 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, Type 15

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

Pathways for Nephrotic Syndrome, Type 15

GO Terms for Nephrotic Syndrome, Type 15

Sources for Nephrotic Syndrome, Type 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
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