NPHS11
MCID: NPH095
MIFTS: 25

Nephrotic Syndrome, Type 11 (NPHS11)

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

Aliases & Classifications for Nephrotic Syndrome, Type 11

MalaCards integrated aliases for Nephrotic Syndrome, Type 11:

Name: Nephrotic Syndrome, Type 11 56 29 6
Nphs11 56 73
Nephrotic Syndrome Type 11 12
Nephrotic Syndrome 11 73

Characteristics:

OMIM:

56
Inheritance:
autosomal recessive

Miscellaneous:
progressive disorder
not responsive to steroid treatment
onset of renal disease in first decade
most patients require renal transplantation
no recurrence of nephrotic syndrome after transplantation


HPO:

31
nephrotic syndrome, type 11:
Inheritance autosomal recessive inheritance
Onset and clinical course variable expressivity progressive


Classifications:



Summaries for Nephrotic Syndrome, Type 11

UniProtKB/Swiss-Prot : 73 Nephrotic syndrome 11: 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 and progress to end-stage renal failure. NPHS11 is an autosomal recessive, steroid-resistant and progressive form with onset in the first decade of life.

MalaCards based summary : Nephrotic Syndrome, Type 11, is also known as nphs11. An important gene associated with Nephrotic Syndrome, Type 11 is NUP107 (Nucleoporin 107). Affiliated tissues include kidney, and related phenotypes are abnormal facial shape and dilated cardiomyopathy

Disease Ontology : 12 A familial nephrotic syndrome characterized by onset in the first decade of life of steroid resistant progressive renal disease that has material basis in homozygous or compound heterozygous mutation in the NUP107 gene on chromosome 12q15.

OMIM : 56 Nephrotic syndrome type 11 is an autosomal recessive disorder of the kidney with onset in the first decade of life. The disorder is progressive and usually results in end-stage renal disease necessitating renal transplantation, although some patients may have a slightly milder phenotype (summary by Miyake et al., 2015). For a general phenotypic description and a discussion of genetic heterogeneity of nephrotic syndrome, see NPHS1 (256300). (616730)

Symptoms & Phenotypes for Nephrotic Syndrome, Type 11

Human phenotypes related to Nephrotic Syndrome, Type 11:

31 (show all 25)
# Description HPO Frequency HPO Source Accession
1 abnormal facial shape 31 very rare (1%) HP:0001999
2 dilated cardiomyopathy 31 very rare (1%) HP:0001644
3 ventricular septal defect 31 very rare (1%) HP:0001629
4 focal segmental glomerulosclerosis 31 very rare (1%) HP:0000097
5 iga deposition in the glomerulus 31 very rare (1%) HP:0000794
6 global developmental delay 31 HP:0001263
7 delayed speech and language development 31 HP:0000750
8 smooth philtrum 31 HP:0000319
9 proteinuria 31 HP:0000093
10 cleft palate 31 HP:0000175
11 high palate 31 HP:0000218
12 micrognathia 31 HP:0000347
13 nephrotic syndrome 31 HP:0000100
14 arachnodactyly 31 HP:0001166
15 hypercholesterolemia 31 HP:0003124
16 partial duplication of thumb phalanx 31 HP:0009944
17 hypoalbuminemia 31 HP:0003073
18 sloping forehead 31 HP:0000340
19 clinodactyly 31 HP:0030084
20 stage 5 chronic kidney disease 31 HP:0003774
21 narrow forehead 31 HP:0000341
22 renal tubular atrophy 31 HP:0000092
23 cleft lip 31 HP:0410030
24 diffuse mesangial sclerosis 31 HP:0001967
25 minimal change glomerulonephritis 31 HP:0012579

Symptoms via clinical synopsis from OMIM:

56
Laboratory Abnormalities:
proteinuria
hypercholesterolemia
decreased serum albumin

Genitourinary Kidneys:
nephrotic syndrome
focal segmental glomerulosclerosis
diffuse mesangial sclerosis
interstitial fibrosis
end-stage renal disease
more

Clinical features from OMIM:

616730

Drugs & Therapeutics for Nephrotic Syndrome, Type 11

Search Clinical Trials , NIH Clinical Center for Nephrotic Syndrome, Type 11

Genetic Tests for Nephrotic Syndrome, Type 11

Genetic tests related to Nephrotic Syndrome, Type 11:

# Genetic test Affiliating Genes
1 Nephrotic Syndrome, Type 11 29 NUP107

Anatomical Context for Nephrotic Syndrome, Type 11

MalaCards organs/tissues related to Nephrotic Syndrome, Type 11:

40
Kidney

Publications for Nephrotic Syndrome, Type 11

Articles related to Nephrotic Syndrome, Type 11:

# Title Authors PMID Year
1
Mutations in multiple components of the nuclear pore complex cause nephrotic syndrome. 56 6
30179222 2018
2
Biallelic Mutations in Nuclear Pore Complex Subunit NUP107 Cause Early-Childhood-Onset Steroid-Resistant Nephrotic Syndrome. 56 6
26411495 2015
3
Genetics and clinical features of 15 Asian families with steroid-resistant nephrotic syndrome. 56
16968734 2006
4
Relapse of membranous glomerulopathy after kidney transplantation: sustained remittance induced by rituximab. 61
18538101 2008
5
A randomized study comparing methylprednisolone plus chlorambucil versus methylprednisolone plus cyclophosphamide in idiopathic membranous nephropathy. 61
9513907 1998
6
Clinical effects of selective thromboxane A2 synthetase inhibitor in patients with nephrotic syndrome. 61
3214971 1988

Variations for Nephrotic Syndrome, Type 11

ClinVar genetic disease variations for Nephrotic Syndrome, Type 11:

6 ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 NUP107 NM_020401.4(NUP107):c.2492A>C (p.Asp831Ala)SNV Pathogenic 219127 rs864321632 12:69129114-69129114 12:68735334-68735334
2 NUP107 NM_020401.4(NUP107):c.1079_1083del (p.Glu360fs)deletion Pathogenic 219128 rs864321687 12:69109514-69109518 12:68715734-68715738
3 NUP107 NM_020401.4(NUP107):c.969+1G>ASNV Pathogenic 219129 rs864321688 12:69107589-69107589 12:68713809-68713809
4 NUP107 NM_020401.4(NUP107):c.469G>T (p.Asp157Tyr)SNV Pathogenic 219130 rs864321633 12:69090619-69090619 12:68696839-68696839
5 NUP107 NM_020401.4(NUP107):c.2666A>G (p.Tyr889Cys)SNV Likely pathogenic 590324 rs1565707103 12:69135756-69135756 12:68741976-68741976

UniProtKB/Swiss-Prot genetic disease variations for Nephrotic Syndrome, Type 11:

73
# Symbol AA change Variation ID SNP ID
1 NUP107 p.Asp157Tyr VAR_076358 rs864321633
2 NUP107 p.Asp831Ala VAR_076359 rs864321632
3 NUP107 p.Tyr889Cys VAR_081358

Expression for Nephrotic Syndrome, Type 11

Search GEO for disease gene expression data for Nephrotic Syndrome, Type 11.

Pathways for Nephrotic Syndrome, Type 11

GO Terms for Nephrotic Syndrome, Type 11

Sources for Nephrotic Syndrome, Type 11

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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