NPHS17
MCID: NPH105
MIFTS: 17

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 58 6
Nphs17 58 76
Nephrotic Syndrome Type 17 12
Nephrotic Syndrome 17 76

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive

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


Classifications:



External Ids:

Disease Ontology 12 DOID:0080392
OMIM 58 618176
MeSH 45 D009404

Summaries for Nephrotic Syndrome, Type 17

UniProtKB/Swiss-Prot : 76 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.

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.

Description from OMIM: 618176

Related Diseases for Nephrotic Syndrome, Type 17

Symptoms & Phenotypes for Nephrotic Syndrome, Type 17

Symptoms via clinical synopsis from OMIM:

58
Laboratory Abnormalities:
proteinuria
microscopic hematuria

Growth Height:
short stature (in some patients)

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

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

Anatomical Context for Nephrotic Syndrome, Type 17

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

42
Kidney

Publications for Nephrotic Syndrome, Type 17

Variations for Nephrotic Syndrome, Type 17

ClinVar genetic disease variations for Nephrotic Syndrome, Type 17:

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

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

Sources for Nephrotic Syndrome, Type 17

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
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52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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