NPHS18
MCID: NPH106
MIFTS: 18

Nephrotic Syndrome, Type 18 (NPHS18)

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

Aliases & Classifications for Nephrotic Syndrome, Type 18

MalaCards integrated aliases for Nephrotic Syndrome, Type 18:

Name: Nephrotic Syndrome, Type 18 58 6
Nphs18 58 76
Nephrotic Syndrome Type 18 12
Nephrotic Syndrome 18 76

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive

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


HPO:

33
nephrotic syndrome, type 18:
Onset and clinical course progressive


Classifications:



External Ids:

Disease Ontology 12 DOID:0080393
OMIM 58 618177
MeSH 45 D009404
MedGen 43 CN257779

Summaries for Nephrotic Syndrome, Type 18

UniProtKB/Swiss-Prot : 76 Nephrotic syndrome 18: 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. NPHS18 is an autosomal recessive, steroid-resistant progressive form with onset in the first decade of life.

MalaCards based summary : Nephrotic Syndrome, Type 18, is also known as nphs18. An important gene associated with Nephrotic Syndrome, Type 18 is NUP133 (Nucleoporin 133). Affiliated tissues include kidney, and related phenotypes are stage 5 chronic kidney disease and focal segmental glomerulosclerosis

Disease Ontology : 12 A familial nephrotic syndrome that has material basis in by homozygous or compound heterozygous mutation in the NUP133 gene on chromosome 1q42.

Description from OMIM: 618177

Related Diseases for Nephrotic Syndrome, Type 18

Symptoms & Phenotypes for Nephrotic Syndrome, Type 18

Human phenotypes related to Nephrotic Syndrome, Type 18:

33
# Description HPO Frequency HPO Source Accession
1 stage 5 chronic kidney disease 33 HP:0003774
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:
focal segmental glomerulosclerosis
end-stage renal disease
effacement of podocyte foot processes
steroid-resistant nephrotic syndrome

Clinical features from OMIM:

618177

Drugs & Therapeutics for Nephrotic Syndrome, Type 18

Search Clinical Trials , NIH Clinical Center for Nephrotic Syndrome, Type 18

Genetic Tests for Nephrotic Syndrome, Type 18

Anatomical Context for Nephrotic Syndrome, Type 18

MalaCards organs/tissues related to Nephrotic Syndrome, Type 18:

42
Kidney

Publications for Nephrotic Syndrome, Type 18

Articles related to Nephrotic Syndrome, Type 18:

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

Variations for Nephrotic Syndrome, Type 18

UniProtKB/Swiss-Prot genetic disease variations for Nephrotic Syndrome, Type 18:

76
# Symbol AA change Variation ID SNP ID
1 NUP133 p.Arg231Gly VAR_081359
2 NUP133 p.Ser974Arg VAR_081360
3 NUP133 p.Leu1055Ser VAR_081361 rs376476266

ClinVar genetic disease variations for Nephrotic Syndrome, Type 18:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 NUP133 NM_018230.2(NUP133): c.691C> G (p.Arg231Gly) single nucleotide variant Likely pathogenic GRCh37 Chromosome 1, 229634011: 229634011
2 NUP133 NM_018230.2(NUP133): c.691C> G (p.Arg231Gly) single nucleotide variant Likely pathogenic GRCh38 Chromosome 1, 229498264: 229498264
3 NUP133 NM_018230.2(NUP133): c.3164T> C (p.Leu1055Ser) single nucleotide variant Likely pathogenic GRCh38 Chromosome 1, 229450541: 229450541
4 NUP133 NM_018230.2(NUP133): c.3164T> C (p.Leu1055Ser) single nucleotide variant Likely pathogenic GRCh37 Chromosome 1, 229586288: 229586288
5 NUP133 NM_018230.2(NUP133): c.2922T> G (p.Ser974Arg) single nucleotide variant Likely pathogenic GRCh38 Chromosome 1, 229458219: 229458219
6 NUP133 NM_018230.2(NUP133): c.2922T> G (p.Ser974Arg) single nucleotide variant Likely pathogenic GRCh37 Chromosome 1, 229593966: 229593966

Expression for Nephrotic Syndrome, Type 18

Search GEO for disease gene expression data for Nephrotic Syndrome, Type 18.

Pathways for Nephrotic Syndrome, Type 18

GO Terms for Nephrotic Syndrome, Type 18

Sources for Nephrotic Syndrome, Type 18

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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