NPHS19
MCID: NPH107
MIFTS: 21

Nephrotic Syndrome, Type 19 (NPHS19)

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

Aliases & Classifications for Nephrotic Syndrome, Type 19

MalaCards integrated aliases for Nephrotic Syndrome, Type 19:

Name: Nephrotic Syndrome, Type 19 57 29 6
Nphs19 57 72
Nephrotic Syndrome Type 19 12
Nephrotic Syndrome 19 72

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal recessive

Miscellaneous:
progressive disorder
onset in first or second decade
one chinese family has been reported (last curated november 2018)


HPO:

31
nephrotic syndrome, type 19:
Inheritance autosomal recessive inheritance
Onset and clinical course progressive


Classifications:



External Ids:

Disease Ontology 12 DOID:0080394
OMIM® 57 618178
OMIM Phenotypic Series 57 PS256300
MeSH 44 D009404

Summaries for Nephrotic Syndrome, Type 19

UniProtKB/Swiss-Prot : 72 Nephrotic syndrome 19: 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. NPHS19 is an autosomal recessive, steroid-resistant form with onset in the first or second decade of life, resulting in chronic kidney disease.

MalaCards based summary : Nephrotic Syndrome, Type 19, is also known as nphs19. An important gene associated with Nephrotic Syndrome, Type 19 is NUP160 (Nucleoporin 160). Affiliated tissues include kidney, and related phenotypes are proteinuria and chronic kidney disease

Disease Ontology : 12 A familial nephrotic syndrome that has material basis in compound heterozygous mutation in the NUP160 gene on chromosome 11p11.

OMIM® : 57 NPHS19, 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 (summary by Braun et al., 2018). (618178) (Updated 20-May-2021)

Symptoms & Phenotypes for Nephrotic Syndrome, Type 19

Human phenotypes related to Nephrotic Syndrome, Type 19:

31
# Description HPO Frequency HPO Source Accession
1 proteinuria 31 HP:0000093
2 chronic kidney disease 31 HP:0012622
3 focal segmental glomerulosclerosis 31 HP:0000097
4 steroid-resistant nephrotic syndrome 31 HP:0012588

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Laboratory Abnormalities:
proteinuria

Genitourinary Kidneys:
chronic kidney disease
focal segmental glomerulosclerosis
steroid-resistant nephrotic syndrome

Clinical features from OMIM®:

618178 (Updated 20-May-2021)

Drugs & Therapeutics for Nephrotic Syndrome, Type 19

Search Clinical Trials , NIH Clinical Center for Nephrotic Syndrome, Type 19

Genetic Tests for Nephrotic Syndrome, Type 19

Genetic tests related to Nephrotic Syndrome, Type 19:

# Genetic test Affiliating Genes
1 Nephrotic Syndrome, Type 19 29 NUP160

Anatomical Context for Nephrotic Syndrome, Type 19

MalaCards organs/tissues related to Nephrotic Syndrome, Type 19:

40
Kidney

Publications for Nephrotic Syndrome, Type 19

Articles related to Nephrotic Syndrome, Type 19:

# Title Authors PMID Year
1
Mutations in multiple components of the nuclear pore complex cause nephrotic syndrome. 6 57
30179222 2018
2
Kidney injury in systemic lupus erythematosus: lack of correlation between clinical and histological data. 61
30032856 2018
3
The relationship between children kidney diseases and adult ESRD--an epidemiological investigation of 700 cases. 61
23964745 2013
4
Mycophenolate mofetil monotherapy in membranous nephropathy: a 1-year randomized controlled trial. 61
18585835 2008
5
[Lupus nephritis--clinical and morfological correlation]. 61
17974390 1994

Variations for Nephrotic Syndrome, Type 19

ClinVar genetic disease variations for Nephrotic Syndrome, Type 19:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 NUP160 NM_015231.2(NUP160):c.2407G>A (p.Glu803Lys) SNV Uncertain significance 590322 rs775637217 GRCh37: 11:47828661-47828661
GRCh38: 11:47807109-47807109
2 NUP160 NM_015231.2(NUP160):c.2728C>T (p.Arg910Ter) SNV Uncertain significance 590323 rs766361033 GRCh37: 11:47825037-47825037
GRCh38: 11:47803485-47803485
3 NUP160 NM_015231.2(NUP160):c.3070A>G (p.Ile1024Val) SNV Uncertain significance 1029371 GRCh37: 11:47819736-47819736
GRCh38: 11:47798184-47798184

Expression for Nephrotic Syndrome, Type 19

Search GEO for disease gene expression data for Nephrotic Syndrome, Type 19.

Pathways for Nephrotic Syndrome, Type 19

GO Terms for Nephrotic Syndrome, Type 19

Sources for Nephrotic Syndrome, Type 19

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 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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