NPHS19
MCID: NPH107
MIFTS: 19

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 58 6
Nphs19 58 76
Nephrotic Syndrome Type 19 12
Nephrotic Syndrome 19 76

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive

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


HPO:

33
nephrotic syndrome, type 19:
Onset and clinical course progressive


Classifications:



External Ids:

Disease Ontology 12 DOID:0080394
OMIM 58 618178
MeSH 45 D009404
MedGen 43 CN257780

Summaries for Nephrotic Syndrome, Type 19

UniProtKB/Swiss-Prot : 76 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 chronic kidney disease and focal segmental glomerulosclerosis

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

Description from OMIM: 618178

Related Diseases for Nephrotic Syndrome, Type 19

Symptoms & Phenotypes for Nephrotic Syndrome, Type 19

Human phenotypes related to Nephrotic Syndrome, Type 19:

33
# Description HPO Frequency HPO Source Accession
1 chronic kidney disease 33 HP:0012622
2 focal segmental glomerulosclerosis 33 HP:0000097
3 steroid-resistant nephrotic syndrome 33 HP:0012588

Symptoms via clinical synopsis from OMIM:

58
Laboratory Abnormalities:
proteinuria

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

Clinical features from OMIM:

618178

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

Anatomical Context for Nephrotic Syndrome, Type 19

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

42
Kidney

Publications for Nephrotic Syndrome, Type 19

Articles related to Nephrotic Syndrome, Type 19:

# Title Authors Year
1
Mutations in multiple components of the nuclear pore complex cause nephrotic syndrome. ( 30179222 )
2018

Variations for Nephrotic Syndrome, Type 19

ClinVar genetic disease variations for Nephrotic Syndrome, Type 19:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 NUP160 NM_015231.2(NUP160): c.2407G> A (p.Glu803Lys) single nucleotide variant Uncertain significance GRCh37 Chromosome 11, 47828661: 47828661
2 NUP160 NM_015231.2(NUP160): c.2407G> A (p.Glu803Lys) single nucleotide variant Uncertain significance GRCh38 Chromosome 11, 47807109: 47807109
3 NUP160 NM_015231.2(NUP160): c.2728C> T (p.Arg910Ter) single nucleotide variant Uncertain significance GRCh37 Chromosome 11, 47825037: 47825037
4 NUP160 NM_015231.2(NUP160): c.2728C> T (p.Arg910Ter) single nucleotide variant Uncertain significance GRCh38 Chromosome 11, 47803485: 47803485

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
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
51 NCIt
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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