NPHS17
MCID: NPH105
MIFTS: 24

Nephrotic Syndrome, Type 17 (NPHS17)

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

Aliases & Classifications for Nephrotic Syndrome, Type 17

MalaCards integrated aliases for Nephrotic Syndrome, Type 17:

Name: Nephrotic Syndrome, Type 17 56 29 6
Nphs17 56 73
Nephrotic Syndrome Type 17 12
Nephrotic Syndrome 17 73

Characteristics:

OMIM:

56
Inheritance:
autosomal recessive

Miscellaneous:
progressive disorder
onset in the first decade
four patients from 3 unrelated families have been reported (last curated november 2018)


HPO:

31
nephrotic syndrome, type 17:
Inheritance autosomal recessive inheritance
Onset and clinical course progressive


Classifications:



External Ids:

Disease Ontology 12 DOID:0080392
OMIM 56 618176
OMIM Phenotypic Series 56 PS256300
MeSH 43 D009404

Summaries for Nephrotic Syndrome, Type 17

UniProtKB/Swiss-Prot : 73 Nephrotic syndrome 17: 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 that progresses to end-stage renal failure. NPHS17 is an autosomal recessive, steroid-resistant progressive form with onset in the first decade of life.

MalaCards based summary : Nephrotic Syndrome, Type 17, is also known as nphs17. An important gene associated with Nephrotic Syndrome, Type 17 is NUP85 (Nucleoporin 85). Affiliated tissues include kidney, and related phenotypes are short stature and proteinuria

Disease Ontology : 12 A familial nephrotic syndrome that has material basis in by homozygous or compound heterozygous mutation in the NUP85 gene on chromosome 17q25.

OMIM : 56 NPHS17, a disease of the renal glomerular filter, is characterized by proteinuria, edema, and hypoalbuminemia. It does not respond to drug treatment and inevitably progresses to end-stage renal disease, thus requiring dialysis or renal transplantation for survival. Renal histology shows focal segmental glomerulosclerosis (Braun et al., 2018). For a general phenotypic description and a discussion of genetic heterogeneity of nephrotic syndrome, see NPHS1 (256300). (618176)

Symptoms & Phenotypes for Nephrotic Syndrome, Type 17

Human phenotypes related to Nephrotic Syndrome, Type 17:

31 (show all 6)
# Description HPO Frequency HPO Source Accession
1 short stature 31 very rare (1%) HP:0004322
2 proteinuria 31 HP:0000093
3 stage 5 chronic kidney disease 31 HP:0003774
4 focal segmental glomerulosclerosis 31 HP:0000097
5 microscopic hematuria 31 HP:0002907
6 steroid-resistant nephrotic syndrome 31 HP:0012588

Symptoms via clinical synopsis from OMIM:

56
Laboratory Abnormalities:
proteinuria
microscopic hematuria

Growth Height:
short stature (in some patients)

Genitourinary Kidneys:
focal segmental glomerulosclerosis
steroid-resistant nephrotic syndrome
end-stage renal disease

Neurologic Central Nervous System:
impaired intellectual development (1 family)

Clinical features from OMIM:

618176

Drugs & Therapeutics for Nephrotic Syndrome, Type 17

Search Clinical Trials , NIH Clinical Center for Nephrotic Syndrome, Type 17

Genetic Tests for Nephrotic Syndrome, Type 17

Genetic tests related to Nephrotic Syndrome, Type 17:

# Genetic test Affiliating Genes
1 Nephrotic Syndrome, Type 17 29 NUP85

Anatomical Context for Nephrotic Syndrome, Type 17

MalaCards organs/tissues related to Nephrotic Syndrome, Type 17:

40
Kidney

Publications for Nephrotic Syndrome, Type 17

Articles related to Nephrotic Syndrome, Type 17:

# Title Authors PMID Year
1
Mutations in multiple components of the nuclear pore complex cause nephrotic syndrome. 56 6
30179222 2018
2
[Combined therapy of membranoproliferative glomerulonephritis in older patients]. 61
23130519 2012
3
Assessment of mycophenolate mofetil for treatment of frequently relapsing nephrotic syndrome in children. 61
18182707 2007
4
Impact of managed care on clinical outcome of systemic lupus erythematosus in Puerto Rico. 61
17041418 2003
5
Extracapillary glomerulonephritis in a patient with juvenile chronic arthritis. 61
8877937 1996
6
[Effect of elevated blood pressure and proteinuria on progression of mesangioproliferative glomerulonephritis]. 61
7854961 1994
7
HLA phenotypes and idiopathic nephrotic syndrome in children. 61
6410384 1983

Variations for Nephrotic Syndrome, Type 17

ClinVar genetic disease variations for Nephrotic Syndrome, Type 17:

6 ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 NUP85 NM_024844.5(NUP85):c.405+1G>ASNV Pathogenic 590317 rs1568070817 17:73209215-73209215 17:75213120-75213120
2 NUP85 NM_024844.5(NUP85):c.1741G>C (p.Ala581Pro)SNV Likely pathogenic 590318 rs1321552081 17:73230857-73230857 17:75234762-75234762
3 NUP85 NM_024844.5(NUP85):c.1933C>T (p.Arg645Trp)SNV Likely pathogenic 590316 rs368572297 17:73231736-73231736 17:75235641-75235641
4 NUP85 NM_024844.5(NUP85):c.1430C>T (p.Ala477Val)SNV Uncertain significance 590315 rs1568094661 17:73228979-73228979 17:75232884-75232884

UniProtKB/Swiss-Prot genetic disease variations for Nephrotic Syndrome, Type 17:

73
# Symbol AA change Variation ID SNP ID
1 NUP85 p.Ala581Pro VAR_081365
2 NUP85 p.Arg645Trp VAR_081366 rs368572297

Expression for Nephrotic Syndrome, Type 17

Search GEO for disease gene expression data for Nephrotic Syndrome, Type 17.

Pathways for Nephrotic Syndrome, Type 17

GO Terms for Nephrotic Syndrome, Type 17

Biological processes related to Nephrotic Syndrome, Type 17 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protein transport GO:0015031 8.62 NUP85 GGA3

Sources for Nephrotic Syndrome, Type 17

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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