NPHS18
MCID: NPH106
MIFTS: 23

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 57 29 6
Nphs18 57 72
Nephrotic Syndrome Type 18 12
Nephrotic Syndrome 18 72

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal recessive

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


HPO:

31
nephrotic syndrome, type 18:
Inheritance autosomal recessive inheritance
Onset and clinical course progressive


Classifications:



External Ids:

Disease Ontology 12 DOID:0080393
OMIM® 57 618177
OMIM Phenotypic Series 57 PS256300
MeSH 44 D009404

Summaries for Nephrotic Syndrome, Type 18

UniProtKB/Swiss-Prot : 72 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 bone, and related phenotypes are proteinuria and stage 5 chronic kidney disease

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.

OMIM® : 57 NPHS18, 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 (Braun et al., 2018). For a general phenotypic description and a discussion of genetic heterogeneity of nephrotic syndrome, see NPHS1 (256300). (618177) (Updated 05-Apr-2021)

Symptoms & Phenotypes for Nephrotic Syndrome, Type 18

Human phenotypes related to Nephrotic Syndrome, Type 18:

31
# Description HPO Frequency HPO Source Accession
1 proteinuria 31 HP:0000093
2 stage 5 chronic kidney disease 31 HP:0003774
3 focal segmental glomerulosclerosis 31 HP:0000097
4 steroid-resistant nephrotic syndrome 31 HP:0012588

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Laboratory Abnormalities:
proteinuria

Genitourinary Kidneys:
focal segmental glomerulosclerosis
steroid-resistant nephrotic syndrome
end-stage renal disease
effacement of podocyte foot processes

Clinical features from OMIM®:

618177 (Updated 05-Apr-2021)

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

Genetic tests related to Nephrotic Syndrome, Type 18:

# Genetic test Affiliating Genes
1 Nephrotic Syndrome, Type 18 29 NUP133

Anatomical Context for Nephrotic Syndrome, Type 18

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

40
Kidney, Bone

Publications for Nephrotic Syndrome, Type 18

Articles related to Nephrotic Syndrome, Type 18:

# Title Authors PMID Year
1
Mutations in multiple components of the nuclear pore complex cause nephrotic syndrome. 6 57
30179222 2018
2
Idiopathic hypereosinophilic syndrome: a new cause of vasculitis of the central nervous system. 61
25843450 2015
3
The development of bone mineral lateralization in the arms. 61
22744715 2013
4
[Clinicopathological analysis on hepatitis B virus-associated glomerulonephritis in 205 patients]. 61
21604578 2010
5
Nail-patella syndrome and pre-eclampsia. 61
8163040 1993

Variations for Nephrotic Syndrome, Type 18

ClinVar genetic disease variations for Nephrotic Syndrome, Type 18:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 NUP133 NM_018230.3(NUP133):c.691C>G (p.Arg231Gly) SNV Likely pathogenic 590319 rs1558108130 GRCh37: 1:229634011-229634011
GRCh38: 1:229498264-229498264
2 NUP133 NM_018230.3(NUP133):c.3164T>C (p.Leu1055Ser) SNV Likely pathogenic 590320 rs376476266 GRCh37: 1:229586288-229586288
GRCh38: 1:229450541-229450541
3 NUP133 NM_018230.3(NUP133):c.2922T>G (p.Ser974Arg) SNV Likely pathogenic 590321 rs1558091788 GRCh37: 1:229593966-229593966
GRCh38: 1:229458219-229458219
4 NUP133 NM_018230.3(NUP133):c.2089G>A (p.Asp697Asn) SNV Uncertain significance 1029680 GRCh37: 1:229602491-229602491
GRCh38: 1:229466744-229466744
5 NUP133 NM_018230.3(NUP133):c.3299T>C (p.Ile1100Thr) SNV Uncertain significance 1029681 GRCh37: 1:229580696-229580696
GRCh38: 1:229444949-229444949

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

72
# 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

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