MCID: NPH076
MIFTS: 17

Nephrotic Syndrome, Type 10

Categories: Genetic diseases, Nephrological diseases, Rare diseases, Blood diseases, Immune diseases, Metabolic diseases, Endocrine 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 73
Nphs10 57 75
Nephrotic Syndrome 10 75

Characteristics:

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:



External Ids:

OMIM 57 615861
MeSH 44 D009404
SNOMED-CT via HPO 69 258211005 44785005 236381000
UMLS 73 C4014507

Summaries for Nephrotic Syndrome, Type 10

UniProtKB/Swiss-Prot : 75 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 minimal change glomerulonephritis and steroid-resistant nephrotic syndrome

Description from OMIM: 615861

Related Diseases for Nephrotic Syndrome, Type 10

Symptoms & Phenotypes for Nephrotic Syndrome, Type 10

Symptoms via clinical synopsis from OMIM:

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


Clinical features from OMIM:

615861

Human phenotypes related to Nephrotic Syndrome, Type 10:

32
# Description HPO Frequency HPO Source Accession
1 minimal change glomerulonephritis 32 very rare (1%) HP:0012579
2 steroid-resistant nephrotic syndrome 32 very rare (1%) HP:0012588
3 podocyte foot process effacement 32 HP:0031266

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

Variations for Nephrotic Syndrome, Type 10

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

75
# 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_001424.5(EMP2): c.184C> T (p.Gln62Ter) single nucleotide variant Pathogenic rs587777481 GRCh38 Chromosome 16, 10538060: 10538060
2 EMP2 NM_001424.5(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_001424.5(EMP2): c.28G> A (p.Ala10Thr) single nucleotide variant Pathogenic rs587777482 GRCh38 Chromosome 16, 10547590: 10547590
6 EMP2 NM_001424.5(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 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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