NPHS6
MCID: NPH070
MIFTS: 36

Nephrotic Syndrome, Type 6 (NPHS6)

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

Aliases & Classifications for Nephrotic Syndrome, Type 6

MalaCards integrated aliases for Nephrotic Syndrome, Type 6:

Name: Nephrotic Syndrome, Type 6 57 29 13 6 40 73
Nphs6 57 75
Familial Idiopathic Steroid-Resistant Nephrotic Syndrome with Diffuse Mesangial Proliferation 59
Familial Idiopathic Steroid-Resistant Nephrotic Syndrome with Diffuse Mesangial Sclerosis 59
Familial Idiopathic Steroid-Resistant Nephrotic Syndrome with Minimal Changes 59
Nephrotic Syndrome 6 75

Characteristics:

Orphanet epidemiological data:

59
familial idiopathic steroid-resistant nephrotic syndrome with minimal changes
Inheritance: Autosomal dominant,Autosomal recessive;

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
variable severity
onset in first decade
end-stage renal failure may occur
variable response to steroid treatment
two consanguineous turkish families have been reported (as of august 2011)


HPO:

32
nephrotic syndrome, type 6:
Onset and clinical course variable expressivity
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 59  
Rare renal diseases


Summaries for Nephrotic Syndrome, Type 6

OMIM : 57 The nephrotic syndrome refers to a genetically heterogeneous group of disorders characterized by proteinuria, hypoalbuminemia, and edema, resulting in end-stage kidney disease if untreated. Inherited defects in podocyte structure and function have been observed in some children with the steroid-resistant subtype of nephrotic syndrome (summary by Ozaltin et al., 2011). For a general phenotypic description and a discussion of genetic heterogeneity of nephrotic syndrome, see NPHS1 (256300). (614196)

MalaCards based summary : Nephrotic Syndrome, Type 6, also known as nphs6, is related to kidney hypertrophy and hypoparathyroidism, sensorineural deafness, and renal disease, and has symptoms including edema An important gene associated with Nephrotic Syndrome, Type 6 is PTPRO (Protein Tyrosine Phosphatase, Receptor Type O), and among its related pathways/superpathways are Primary Focal Segmental Glomerulosclerosis FSGS and Nephrin/Neph1 signaling in the kidney podocyte. Affiliated tissues include kidney, and related phenotypes are proteinuria and edema

UniProtKB/Swiss-Prot : 75 Nephrotic syndrome 6: 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. Some affected individuals have an inherited steroid-resistant form and progress to end-stage renal failure.

Related Diseases for Nephrotic Syndrome, Type 6

Diseases in the Nephrotic Syndrome family:

Nephrotic Syndrome, Type 1 Nephrotic Syndrome, Type 4
Nephrotic Syndrome, Type 2 Nephrotic Syndrome, Type 3
Nephrotic Syndrome, Type 6 Nephrotic Syndrome, Type 7
Nephrotic Syndrome, Type 8 Nephrotic Syndrome, Type 9
Nephrotic Syndrome, Type 10 Nephrotic Syndrome, Type 11
Nephrotic Syndrome, Type 12 Nephrotic Syndrome, Type 13
Nephrotic Syndrome, Type 14 Nephrotic Syndrome, Type 15
Nephrotic Syndrome, Type 16 Familial Nephrotic Syndrome

Diseases related to Nephrotic Syndrome, Type 6 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 23)
# Related Disease Score Top Affiliating Genes
1 kidney hypertrophy 10.1 NPHS1 NPHS2
2 hypoparathyroidism, sensorineural deafness, and renal disease 10.1 NPHS1 NPHS2
3 atrial septal defect 3 10.1 NPHS1 NPHS2
4 lipoid nephrosis 10.0 NPHS1 NPHS2
5 nephrosclerosis 10.0 NPHS1 NPHS2
6 galloway-mowat syndrome 10.0 NPHS1 NPHS2
7 iga glomerulonephritis 10.0 NPHS1 NPHS2
8 crescentic glomerulonephritis 9.9 NPHS2 PTPRO WT1
9 membranous nephropathy 9.9 NPHS1 NPHS2
10 nephrotic syndrome, type 1 9.9 NPHS1 NPHS2 WT1
11 denys-drash syndrome 9.9 NPHS1 NPHS2 WT1
12 sporadic idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial sclerosis 9.9 PLCE1 WT1
13 urinary system disease 9.8 NPHS1 NPHS2 WT1
14 chronic kidney failure 9.8 NPHS1 NPHS2 WT1
15 wilms tumor 1 9.7 NPHS1 NPHS2 PTPRO WT1
16 kidney disease 9.7 NPHS1 NPHS2 WT1
17 familial nephrotic syndrome 9.6 NPHS1 NPHS2 PLCE1 WT1
18 frasier syndrome 9.6 NPHS1 NPHS2 PLCE1 WT1
19 end stage renal failure 9.6 NPHS1 NPHS2 PLCE1 WT1
20 focal segmental glomerulosclerosis 9.4 NPHS1 NPHS2 PLCE1 PTPRO WT1
21 diffuse mesangial sclerosis 9.4 ARHGDIA NPHS1 NPHS2 PLCE1 WT1
22 familial idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis 9.3 NPHS1 NPHS2 NUP93 PLCE1 PTPRO WT1
23 nephrotic syndrome 8.9 ARHGDIA EMP2 NPHS1 NPHS2 NUP93 PLCE1

Graphical network of the top 20 diseases related to Nephrotic Syndrome, Type 6:



Diseases related to Nephrotic Syndrome, Type 6

Symptoms & Phenotypes for Nephrotic Syndrome, Type 6

Symptoms via clinical synopsis from OMIM:

57
Genitourinary Kidneys:
proteinuria
nephrotic syndrome
focal segmental glomerulosclerosis
tubulointerstitial fibrosis
tubulointerstitial atrophy
more
Laboratory Abnormalities:
hypoalbuminemia

Muscle Soft Tissue:
edema


Clinical features from OMIM:

614196

Human phenotypes related to Nephrotic Syndrome, Type 6:

32 (show all 6)
# Description HPO Frequency HPO Source Accession
1 proteinuria 32 HP:0000093
2 edema 32 HP:0000969
3 nephrotic syndrome 32 HP:0000100
4 hypoalbuminemia 32 HP:0003073
5 focal segmental glomerulosclerosis 32 HP:0000097
6 tubulointerstitial fibrosis 32 HP:0005576

UMLS symptoms related to Nephrotic Syndrome, Type 6:


edema

MGI Mouse Phenotypes related to Nephrotic Syndrome, Type 6:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.43 ARHGDIA EMP2 NPHS2 PLCE1 PTPRO WT1
2 renal/urinary system MP:0005367 9.02 ARHGDIA NPHS1 NPHS2 PTPRO WT1

Drugs & Therapeutics for Nephrotic Syndrome, Type 6

Search Clinical Trials , NIH Clinical Center for Nephrotic Syndrome, Type 6

Genetic Tests for Nephrotic Syndrome, Type 6

Genetic tests related to Nephrotic Syndrome, Type 6:

# Genetic test Affiliating Genes
1 Nephrotic Syndrome, Type 6 29 PTPRO

Anatomical Context for Nephrotic Syndrome, Type 6

MalaCards organs/tissues related to Nephrotic Syndrome, Type 6:

41
Kidney

Publications for Nephrotic Syndrome, Type 6

Variations for Nephrotic Syndrome, Type 6

ClinVar genetic disease variations for Nephrotic Syndrome, Type 6:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 PTPRO PTPRO, IVS16DS, G-T, +1 single nucleotide variant Pathogenic
2 PTPRO PTPRO, IVS19DS, G-A, +1 single nucleotide variant Pathogenic

Expression for Nephrotic Syndrome, Type 6

Search GEO for disease gene expression data for Nephrotic Syndrome, Type 6.

Pathways for Nephrotic Syndrome, Type 6

Pathways related to Nephrotic Syndrome, Type 6 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 10.89 NPHS1 NPHS2 PLCE1 PTPRO WT1
2 10.37 NPHS1 NPHS2

GO Terms for Nephrotic Syndrome, Type 6

Cellular components related to Nephrotic Syndrome, Type 6 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular exosome GO:0070062 9.35 ANKFY1 ARHGDIA NPHS1 NPHS2 PTPRO
2 slit diaphragm GO:0036057 8.62 NPHS1 NPHS2

Biological processes related to Nephrotic Syndrome, Type 6 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 excretion GO:0007588 9.37 NPHS1 NPHS2
2 glomerular basement membrane development GO:0032836 9.32 NPHS1 WT1
3 glomerular visceral epithelial cell development GO:0072015 9.26 NPHS1 NUP93
4 glomerular visceral epithelial cell differentiation GO:0072112 9.16 PTPRO WT1
5 regulation of glomerular filtration GO:0003093 8.96 EMP2 PTPRO
6 glomerulus development GO:0032835 8.8 PLCE1 PTPRO WT1

Molecular functions related to Nephrotic Syndrome, Type 6 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protein binding GO:0005515 9.28 ANKFY1 ARHGDIA EMP2 NPHS1 NPHS2 NUP93

Sources for Nephrotic Syndrome, Type 6

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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