NPHS10
MCID: NPH076
MIFTS: 27

Nephrotic Syndrome, Type 10 (NPHS10)

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

Aliases & Classifications for Nephrotic Syndrome, Type 10

MalaCards integrated aliases for Nephrotic Syndrome, Type 10:

Name: Nephrotic Syndrome, Type 10 57 29 6 40 72
Nphs10 57 74
Idiopathic Steroid-Sensitive Nephrotic Syndrome 59
Nephrotic Syndrome Type 10 12
Nephrotic Syndrome 10 74

Characteristics:

Orphanet epidemiological data:

59

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
onset in early childhood
responsive to medical treatment


HPO:

32
nephrotic syndrome, type 10:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 59  
Rare renal diseases


External Ids:

Disease Ontology 12 DOID:0080386
MeSH 44 D009404
ICD10 via Orphanet 34 N04.0
Orphanet 59 ORPHA69061
UMLS 72 C4014507

Summaries for Nephrotic Syndrome, Type 10

UniProtKB/Swiss-Prot : 74 Nephrotic syndrome 10: A form of nephrotic syndrome, a renal disease clinically characterized by focal segmental glomerulosclerosis, progressive renal failure, severe proteinuria, hypoalbuminemia, hyperlipidemia and edema. NPHS10 is a steroid-sensitive form characterized by onset in childhood and remission without end-stage kidney disease.

MalaCards based summary : Nephrotic Syndrome, Type 10, also known as nphs10, is related to idiopathic steroid-sensitive nephrotic syndrome with focal segmental hyalinosis and idiopathic steroid-sensitive nephrotic syndrome with minimal change. An important gene associated with Nephrotic Syndrome, Type 10 is EMP2 (Epithelial Membrane Protein 2). Affiliated tissues include kidney, and related phenotypes are lymphedema and nephrotic syndrome

Disease Ontology : 12 A familial nephrotic syndrome characterized by early childhood onset that has material basis in homozygous or compound heterozygous mutation in the EMP2 gene on chromosome 16p13.

More information from OMIM: 615861 PS256300

Related Diseases for Nephrotic Syndrome, Type 10

Graphical network of the top 20 diseases related to Nephrotic Syndrome, Type 10:



Diseases related to Nephrotic Syndrome, Type 10

Symptoms & Phenotypes for Nephrotic Syndrome, Type 10

Human phenotypes related to Nephrotic Syndrome, Type 10:

59 32
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 lymphedema 59 32 hallmark (90%) Very frequent (99-80%) HP:0001004
2 nephrotic syndrome 59 32 hallmark (90%) Very frequent (99-80%) HP:0000100
3 minimal change glomerulonephritis 32 very rare (1%) HP:0012579
4 steroid-resistant nephrotic syndrome 32 very rare (1%) HP:0012588
5 podocyte foot process effacement 32 HP:0031266

Symptoms via clinical synopsis from OMIM:

57
Genitourinary Kidneys:
nephrotic syndrome
minimal change disease
effacement of foot processes of podocytes seen on biopsy
no end-stage kidney disease

Clinical features from OMIM:

615861

Drugs & Therapeutics for Nephrotic Syndrome, Type 10

Search Clinical Trials , NIH Clinical Center for Nephrotic Syndrome, Type 10

Genetic Tests for Nephrotic Syndrome, Type 10

Genetic tests related to Nephrotic Syndrome, Type 10:

# Genetic test Affiliating Genes
1 Nephrotic Syndrome, Type 10 29 EMP2

Anatomical Context for Nephrotic Syndrome, Type 10

MalaCards organs/tissues related to Nephrotic Syndrome, Type 10:

41
Kidney

Publications for Nephrotic Syndrome, Type 10

Articles related to Nephrotic Syndrome, Type 10:

(show all 15)
# Title Authors PMID Year
1
Mutations in EMP2 cause childhood-onset nephrotic syndrome. 8 71
24814193 2014
2
Initial steroid sensitivity in children with steroid-resistant nephrotic syndrome predicts post-transplant recurrence. 38
24511128 2014
3
Necrotizing arteritis in a human immunodeficiency virus-infected patient with lupus-like glomerulonephritis. 38
24427374 2014
4
Genetic forms of nephrotic syndrome: a single-center experience in Brussels. 38
18709391 2009
5
Relapsing polychondritis in North India: a report of 10 patients. 38
18092269 2007
6
Involvement of extracellular signal-regulated kinase and p38 in human diabetic nephropathy. 38
15696444 2005
7
Kimura disease in a patient with renal allograft failure secondary to chronic rejection. 38
12883971 2003
8
The factor V Leiden mutation and risk of renal vein thrombosis in patients with nephrotic syndrome. 38
9269648 1997
9
[Clinico-morphologic heterogeneity of minimal changes in glomerulonephritis]. 38
7605213 1994
10
Urinary kallikrein excretion in chronic renal disease with respect to salt intake and renal reserve. 38
1680995 1991
11
[IgA nephropathy (Berger's disease). Our experience in 78 cases]. 38
2152741 1990
12
Cyclosporin in the treatment of steroid-responsive and steroid-resistant nephrotic syndrome in adults. 38
3147413 1988
13
Altered expression of B lymphocyte surface immunoglobulins in minimal change nephrotic syndrome and focal glomerulosclerosis. 38
6611510 1984
14
The size of the juxtaglomerular apparatus in glomerulonephritis with the nephrotic syndrome: a morphometrical study of renal biopsies. 38
809904 1975
15
A study of complement components C3, C5, C6, C7, C8 and C9 in chronic membranoproliferative glomerulonephritis, systemic lupus erythematosus, poststreptococcal nephritis, idiopathic nephrotic syndrome and anaphylactoid purpura. 38
49134 1975

Variations for Nephrotic Syndrome, Type 10

ClinVar genetic disease variations for Nephrotic Syndrome, Type 10:

6
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 EMP2 NM_001424.6(EMP2): c.184C> T (p.Gln62Ter) single nucleotide variant Pathogenic rs587777481 16:10631917-10631917 16:10538060-10538060
2 EMP2 NM_001424.6(EMP2): c.21C> G (p.Phe7Leu) single nucleotide variant Pathogenic rs730882194 16:10641454-10641454 16:10547597-10547597
3 EMP2 NM_001424.6(EMP2): c.28G> A (p.Ala10Thr) single nucleotide variant Pathogenic rs587777482 16:10641447-10641447 16:10547590-10547590

UniProtKB/Swiss-Prot genetic disease variations for Nephrotic Syndrome, Type 10:

74
# Symbol AA change Variation ID SNP ID
1 EMP2 p.Phe7Leu VAR_071478 rs730882194
2 EMP2 p.Ala10Thr VAR_071479 rs587777482

Expression for Nephrotic Syndrome, Type 10

Search GEO for disease gene expression data for Nephrotic Syndrome, Type 10.

Pathways for Nephrotic Syndrome, Type 10

GO Terms for Nephrotic Syndrome, Type 10

Sources for Nephrotic Syndrome, Type 10

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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