NPHS10
MCID: NPH076
MIFTS: 19

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 58 30 6 41 74
Nphs10 58 76
Nephrotic Syndrome Type 10 12
Nephrotic Syndrome 10 76

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
onset in early childhood
responsive to medical treatment


HPO:

33
nephrotic syndrome, type 10:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0080386
OMIM 58 615861
MeSH 45 D009404
UMLS 74 C4014507

Summaries for Nephrotic Syndrome, Type 10

UniProtKB/Swiss-Prot : 76 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, is also known as nphs10. An important gene associated with Nephrotic Syndrome, Type 10 is EMP2 (Epithelial Membrane Protein 2). Affiliated tissues include kidney, and related phenotypes are steroid-resistant nephrotic syndrome and minimal change glomerulonephritis

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.

Description from OMIM: 615861

Related Diseases for Nephrotic Syndrome, Type 10

Symptoms & Phenotypes for Nephrotic Syndrome, Type 10

Human phenotypes related to Nephrotic Syndrome, Type 10:

33
# Description HPO Frequency HPO Source Accession
1 steroid-resistant nephrotic syndrome 33 very rare (1%) HP:0012588
2 minimal change glomerulonephritis 33 very rare (1%) HP:0012579
3 podocyte foot process effacement 33 HP:0031266

Symptoms via clinical synopsis from OMIM:

58
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 30 EMP2

Anatomical Context for Nephrotic Syndrome, Type 10

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

42
Kidney

Publications for Nephrotic Syndrome, Type 10

Variations for Nephrotic Syndrome, Type 10

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

76
# Symbol AA change Variation ID SNP ID
1 EMP2 p.Phe7Leu VAR_071478 rs730882194
2 EMP2 p.Ala10Thr VAR_071479 rs587777482

ClinVar genetic disease variations for Nephrotic Syndrome, Type 10:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 EMP2 NM_001424.6(EMP2): c.184C> T (p.Gln62Ter) single nucleotide variant Pathogenic rs587777481 GRCh38 Chromosome 16, 10538060: 10538060
2 EMP2 NM_001424.6(EMP2): c.184C> T (p.Gln62Ter) single nucleotide variant Pathogenic rs587777481 GRCh37 Chromosome 16, 10631917: 10631917
3 EMP2 NM_001424.5(EMP2): c.21C> G (p.Phe7Leu) single nucleotide variant Pathogenic rs730882194 GRCh38 Chromosome 16, 10547597: 10547597
4 EMP2 NM_001424.5(EMP2): c.21C> G (p.Phe7Leu) single nucleotide variant Pathogenic rs730882194 GRCh37 Chromosome 16, 10641454: 10641454
5 EMP2 NM_001424.6(EMP2): c.28G> A (p.Ala10Thr) single nucleotide variant Pathogenic rs587777482 GRCh38 Chromosome 16, 10547590: 10547590
6 EMP2 NM_001424.6(EMP2): c.28G> A (p.Ala10Thr) single nucleotide variant Pathogenic rs587777482 GRCh37 Chromosome 16, 10641447: 10641447

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
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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