NPHS15
MCID: NPH103
MIFTS: 24

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 56 73
Nephrotic Syndrome Type 15 12 29 6
Nphs15 56 73
Nephrotic Syndrome 15 73

Characteristics:

OMIM:

56
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)


HPO:

31
nephrotic syndrome, type 15:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0080271
OMIM 56 617609
OMIM Phenotypic Series 56 PS256300
MeSH 43 D009404

Summaries for Nephrotic Syndrome, Type 15

OMIM : 56 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 stage 5 chronic kidney disease and proteinuria

Disease Ontology : 12 A familial nephrotic syndrome that has material basis in homozygous or compound heterozygous mutation in the MAGI2 gene on chromosome 7q21.

UniProtKB/Swiss-Prot : 73 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.

Symptoms & Phenotypes for Nephrotic Syndrome, Type 15

Human phenotypes related to Nephrotic Syndrome, Type 15:

31
# Description HPO Frequency HPO Source Accession
1 stage 5 chronic kidney disease 31 very rare (1%) HP:0003774
2 proteinuria 31 HP:0000093
3 nephrotic syndrome 31 HP:0000100
4 hypoalbuminemia 31 HP:0003073
5 minimal change glomerulonephritis 31 HP:0012579

Symptoms via clinical synopsis from OMIM:

56
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

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:

40
Kidney

Publications for Nephrotic Syndrome, Type 15

Articles related to Nephrotic Syndrome, Type 15:

(show all 12)
# Title Authors PMID Year
1
MAGI2 Mutations Cause Congenital Nephrotic Syndrome. 56 6
27932480 2017
2
MAGI-2 is critical for the formation and maintenance of the glomerular filtration barrier in mouse kidney. 56
25108225 2014
3
MAGI-2 scaffold protein is critical for kidney barrier function. 56
25271328 2014
4
Evaluation of renal lesions and clinicopathologic correlation in rheumatoid arthritis. 61
28098102 2017
5
Tip lesion variant of primary focal and segmental glomerulosclerosis: clinicopathological analysis of 20 cases. 61
25857429 2015
6
Pathological profile of biopsied Egyptian children with primary nephrotic syndrome: 15-year single center experience. 61
24430764 2014
7
Ultrastructural changes of podocyte foot processes during the remission phase of minimal change disease of human kidney. 61
24690133 2014
8
Soluble interleukine-2 receptor and MDR1 gene expression levels as inflammatory biomarkers for prediction of steroid response in children with nephrotic syndrome. 61
21525574 2011
9
Serum adiponectin and fetuin-A levels in children with nephrotic syndrome. 61
23082476 2011
10
Cyclosporine therapy monitored with abbreviated area under curve in nephrotic syndrome. 61
15602664 2005
11
[Prognosis of renal vein thrombosis in the adult: influence of treatment]. 61
3216941 1988
12
Nephrotic syndrome and neoplasm. The findings to date, with practical implications. 61
6494075 1984

Variations for Nephrotic Syndrome, Type 15

ClinVar genetic disease variations for Nephrotic Syndrome, Type 15:

6 ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 MAGI2 NM_012301.4(MAGI2):c.3998del (p.Gly1333fs)deletion Pathogenic 431755 rs1135402911 7:77649002-77649002 7:78019685-78019685
2 MAGI2 NM_012301.4(MAGI2):c.64_71del (p.Arg22fs)deletion Pathogenic 431756 rs1135402912 7:79082566-79082573 7:79453250-79453257
3 MAGI2 NM_012301.4(MAGI2):c.3526_3533dup (p.Glu1178fs)duplication Pathogenic 431757 rs1135402913 7:77755044-77755045 7:78125727-78125728
4 MAGI2 NM_012301.4(MAGI2):c.2117C>T (p.Thr706Met)SNV Uncertain significance 625978 rs773722155 7:77824343-77824343 7:78195026-78195026
5 MAGI2 NM_012301.4(MAGI2):c.1777A>G (p.Met593Val)SNV Uncertain significance 626133 rs745364999 7:77885530-77885530 7:78256213-78256213

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 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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