MCID: NPH070
MIFTS: 20

Nephrotic Syndrome, Type 6

Categories: Genetic diseases, Nephrological diseases, Rare diseases, Blood diseases, Immune diseases, Metabolic diseases, Endocrine 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
Nephrotic Syndrome 6 75

Characteristics:

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:



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, is also known as nphs6, and has symptoms including edema An important gene associated with Nephrotic Syndrome, Type 6 is PTPRO (Protein Tyrosine Phosphatase, Receptor Type O). 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

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

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

GO Terms for Nephrotic Syndrome, Type 6

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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