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 57 29 6
Nphs17 57 74
Nephrotic Syndrome Type 17 12
Nephrotic Syndrome 17 74

Characteristics:

OMIM:

57
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:

32
nephrotic syndrome, type 17:
Inheritance autosomal recessive inheritance
Onset and clinical course progressive


Classifications:



External Ids:

Disease Ontology 12 DOID:0080392
MeSH 44 D009404

Summaries for Nephrotic Syndrome, Type 17

UniProtKB/Swiss-Prot : 74 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.

More information from OMIM: 618176 PS256300

Symptoms & Phenotypes for Nephrotic Syndrome, Type 17

Human phenotypes related to Nephrotic Syndrome, Type 17:

32 (show all 6)
# Description HPO Frequency HPO Source Accession
1 short stature 32 very rare (1%) HP:0004322
2 proteinuria 32 HP:0000093
3 stage 5 chronic kidney disease 32 HP:0003774
4 focal segmental glomerulosclerosis 32 HP:0000097
5 microscopic hematuria 32 HP:0002907
6 steroid-resistant nephrotic syndrome 32 HP:0012588

Symptoms via clinical synopsis from OMIM:

57
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:

41
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. 8 71
30179222 2018
2
[Combined therapy of membranoproliferative glomerulonephritis in older patients]. 38
23130519 2012
3
Assessment of mycophenolate mofetil for treatment of frequently relapsing nephrotic syndrome in children. 38
18182707 2007
4
Impact of managed care on clinical outcome of systemic lupus erythematosus in Puerto Rico. 38
17041418 2003
5
Extracapillary glomerulonephritis in a patient with juvenile chronic arthritis. 38
8877937 1996
6
[Effect of elevated blood pressure and proteinuria on progression of mesangioproliferative glomerulonephritis]. 38
7854961 1994
7
HLA phenotypes and idiopathic nephrotic syndrome in children. 38
6410384 1983

Variations for Nephrotic Syndrome, Type 17

ClinVar genetic disease variations for Nephrotic Syndrome, Type 17:

6
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 NUP85 NM_024844.5(NUP85): c.405+1G> A single nucleotide variant Pathogenic 17:73209215-73209215 17:75213120-75213120
2 NUP85 NM_024844.5(NUP85): c.1741G> C (p.Ala581Pro) single nucleotide variant Likely pathogenic 17:73230857-73230857 17:75234762-75234762
3 NUP85 NM_024844.5(NUP85): c.1933C> T (p.Arg645Trp) single nucleotide variant Likely pathogenic 17:73231736-73231736 17:75235641-75235641
4 NUP85 NM_024844.5(NUP85): c.1430C> T (p.Ala477Val) single nucleotide variant Uncertain significance 17:73228979-73228979 17:75232884-75232884

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

74
# 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 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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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