NPHS6
MCID: NPH070
MIFTS: 24

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 39 70
Nphs6 57 72
Nephrotic Syndrome Type 6 12
Nephrotic Syndrome 6 72

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
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:

31
nephrotic syndrome, type 6:
Inheritance autosomal recessive inheritance
Onset and clinical course variable expressivity


Classifications:



External Ids:

Disease Ontology 12 DOID:0080384
OMIM® 57 614196
OMIM Phenotypic Series 57 PS256300
MeSH 44 D009404
MedGen 41 C3280100
UMLS 70 C3280100

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) (Updated 05-Apr-2021)

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 nephrotic syndrome

Disease Ontology : 12 A familial nephrotic syndrome that has material basis in homozygous mutation in the PTPRO gene on chromosome 12p12.

UniProtKB/Swiss-Prot : 72 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.

Symptoms & Phenotypes for Nephrotic Syndrome, Type 6

Human phenotypes related to Nephrotic Syndrome, Type 6:

31 (show all 6)
# Description HPO Frequency HPO Source Accession
1 proteinuria 31 HP:0000093
2 nephrotic syndrome 31 HP:0000100
3 hypoalbuminemia 31 HP:0003073
4 edema 31 HP:0000969
5 focal segmental glomerulosclerosis 31 HP:0000097
6 tubulointerstitial fibrosis 31 HP:0005576

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Genitourinary Kidneys:
proteinuria
nephrotic syndrome
focal segmental glomerulosclerosis
tubulointerstitial fibrosis
effacement of podocyte foot processes
more
Muscle Soft Tissue:
edema

Laboratory Abnormalities:
hypoalbuminemia

Clinical features from OMIM®:

614196 (Updated 05-Apr-2021)

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:

40
Kidney

Publications for Nephrotic Syndrome, Type 6

Articles related to Nephrotic Syndrome, Type 6:

(show all 18)
# Title Authors PMID Year
1
Disruption of PTPRO causes childhood-onset nephrotic syndrome. 57 6
21722858 2011
2
The spectrum of kidney pathology in B-cell chronic lymphocytic leukemia / small lymphocytic lymphoma: a 25-year multicenter experience. 61
25811382 2015
3
Proteinuric diseases with sodium retention: Is plasmin the link? 61
21466573 2012
4
[Relationship between clinical manifestations and renal pathology in children with Henoch-Schonlein purpura nephritis]. 61
17448308 2007
5
Nephrotic syndrome in a child after umbilical-cord-blood transplantation. 61
16791603 2006
6
[Renal involvement in ankylosing spondylitis: concerning 210 cases]. 61
16236389 2005
7
Expression of glomerular plasminogen activator inhibitor type 1 in glomerulonephritis. 61
11920334 2002
8
Testicular sperm extraction combined with intracytoplasmic sperm injection in the treatment of men with persistent azoospermia postchemotherapy. 61
11745242 2001
9
[Evaluation of clinical and morphologic changes in mesangiocapillary glomerulonephritis (MCGN) in reference to re-biopsy]. 61
8058988 1994
10
Glomerular morphometry in reflux nephropathy: functional and radiological correlations. 61
8439474 1993
11
Antimouse laminin antibodies in IgA nephropathy and various glomerular diseases. 61
1706484 1990
12
[Treatment of chronic glomerulonephritis with high doses of intravenous immunoglobulin]. 61
2396419 1990
13
10-year survey of referrals to a pediatric nephrology program. 61
2354471 1990
14
Cyclosporin A in nephrotic syndrome of childhood--a 14 month experience. 61
3522457 1986
15
IgM-associated glomerulonephritis. 61
7050751 1982
16
Mesangioproliferative glomerulonephritis. 61
6994961 1980
17
IgA nephropathy: a syndrome of uniform morphology, diverse clinical features and uncertain prognosis. 61
589877 1977
18
Protective efficacy of vaccination in children in four episodes of natural varicella and zoster in the ward. 61
190584 1977

Variations for Nephrotic Syndrome, Type 6

ClinVar genetic disease variations for Nephrotic Syndrome, Type 6:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 PTPRO NM_030667.3(PTPRO):c.2627+1G>T SNV Pathogenic 30110 rs1591732280 GRCh37: 12:15710458-15710458
GRCh38: 12:15557524-15557524
2 PTPRO NM_030667.3(PTPRO):c.2829+1G>A SNV Pathogenic 30111 rs1591750243 GRCh37: 12:15722433-15722433
GRCh38: 12:15569499-15569499
3 PTPRO NM_030667.3(PTPRO):c.1733C>T (p.Thr578Ile) SNV Uncertain significance 1028900 GRCh37: 12:15669844-15669844
GRCh38: 12:15516910-15516910
4 PTPRO NM_030667.3(PTPRO):c.1792C>G (p.Leu598Val) SNV Uncertain significance 1032235 GRCh37: 12:15673147-15673147
GRCh38: 12:15520213-15520213

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 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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