NPHS11
MCID: NPH095
MIFTS: 23

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 58 30 6
Nphs11 58 76
Nephrotic Syndrome Type 11 12
Nephrotic Syndrome 11 76

Characteristics:

OMIM:

58
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:

33
nephrotic syndrome, type 11:
Onset and clinical course variable expressivity progressive
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Nephrotic Syndrome, Type 11

UniProtKB/Swiss-Prot : 76 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. Some patients with NPHS11 may have extrarenal manifestations, including microcephaly, delayed development, and short stature.

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 : 58 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)

Related Diseases for Nephrotic Syndrome, Type 11

Symptoms & Phenotypes for Nephrotic Syndrome, Type 11

Human phenotypes related to Nephrotic Syndrome, Type 11:

33 (show all 25)
# Description HPO Frequency HPO Source Accession
1 abnormal facial shape 33 very rare (1%) HP:0001999
2 dilated cardiomyopathy 33 very rare (1%) HP:0001644
3 ventricular septal defect 33 very rare (1%) HP:0001629
4 focal segmental glomerulosclerosis 33 very rare (1%) HP:0000097
5 iga deposition in the glomerulus 33 very rare (1%) HP:0000794
6 clinodactyly 33 HP:0030084
7 high palate 33 HP:0000218
8 global developmental delay 33 HP:0001263
9 delayed speech and language development 33 HP:0000750
10 smooth philtrum 33 HP:0000319
11 proteinuria 33 HP:0000093
12 cleft palate 33 HP:0000175
13 micrognathia 33 HP:0000347
14 nephrotic syndrome 33 HP:0000100
15 arachnodactyly 33 HP:0001166
16 hypercholesterolemia 33 HP:0003124
17 partial duplication of thumb phalanx 33 HP:0009944
18 sloping forehead 33 HP:0000340
19 stage 5 chronic kidney disease 33 HP:0003774
20 hypoalbuminemia 33 HP:0003073
21 narrow forehead 33 HP:0000341
22 cleft lip 33 HP:0410030
23 tubular atrophy 33 HP:0000092
24 diffuse mesangial sclerosis 33 HP:0001967
25 minimal change glomerulonephritis 33 HP:0012579

Symptoms via clinical synopsis from OMIM:

58
Laboratory Abnormalities:
proteinuria
hypercholesterolemia
decreased serum albumin

Genitourinary Kidneys:
nephrotic syndrome
focal segmental glomerulosclerosis
tubular atrophy
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 30 NUP107

Anatomical Context for Nephrotic Syndrome, Type 11

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

42
Kidney

Publications for Nephrotic Syndrome, Type 11

Articles related to Nephrotic Syndrome, Type 11:

# Title Authors Year
1
Mutations in multiple components of the nuclear pore complex cause nephrotic syndrome. ( 30179222 )
2018
2
Biallelic Mutations in Nuclear Pore Complex Subunit NUP107 Cause Early-Childhood-Onset Steroid-Resistant Nephrotic Syndrome. ( 26411495 )
2015

Variations for Nephrotic Syndrome, Type 11

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

76
# Symbol AA change Variation ID SNP ID
1 NUP107 p.Asp157Tyr VAR_076358 rs864321633
2 NUP107 p.Asp831Ala VAR_076359 rs864321632
3 NUP107 p.Met101Ile VAR_081356 rs730882216
4 NUP107 p.Tyr889Cys VAR_081358

ClinVar genetic disease variations for Nephrotic Syndrome, Type 11:

6 (show all 12)
# Gene Variation Type Significance SNP ID Assembly Location
1 NUP107 NM_020401.4(NUP107): c.303G> A (p.Met101Ile) single nucleotide variant Pathogenic rs730882216 GRCh38 Chromosome 12, 68690746: 68690746
2 NUP107 NM_020401.4(NUP107): c.303G> A (p.Met101Ile) single nucleotide variant Pathogenic rs730882216 GRCh37 Chromosome 12, 69084526: 69084526
3 NUP107 NM_020401.3(NUP107): c.969+1G> A single nucleotide variant Pathogenic rs864321688 GRCh37 Chromosome 12, 69107589: 69107589
4 NUP107 NM_020401.3(NUP107): c.2492A> C (p.Asp831Ala) single nucleotide variant Pathogenic rs864321632 GRCh37 Chromosome 12, 69129114: 69129114
5 NUP107 NM_020401.3(NUP107): c.2492A> C (p.Asp831Ala) single nucleotide variant Pathogenic rs864321632 GRCh38 Chromosome 12, 68735334: 68735334
6 NUP107 NM_020401.3(NUP107): c.1079_1083del (p.Glu360Glyfs) deletion Pathogenic rs864321687 GRCh38 Chromosome 12, 68715736: 68715740
7 NUP107 NM_020401.3(NUP107): c.1079_1083del (p.Glu360Glyfs) deletion Pathogenic rs864321687 GRCh37 Chromosome 12, 69109516: 69109520
8 NUP107 NM_020401.3(NUP107): c.969+1G> A single nucleotide variant Pathogenic rs864321688 GRCh38 Chromosome 12, 68713809: 68713809
9 NUP107 NM_020401.3(NUP107): c.469G> T (p.Asp157Tyr) single nucleotide variant Pathogenic rs864321633 GRCh37 Chromosome 12, 69090619: 69090619
10 NUP107 NM_020401.3(NUP107): c.469G> T (p.Asp157Tyr) single nucleotide variant Pathogenic rs864321633 GRCh38 Chromosome 12, 68696839: 68696839
11 NUP107 NM_020401.3(NUP107): c.2666A> G (p.Tyr889Cys) single nucleotide variant Likely pathogenic GRCh38 Chromosome 12, 68741976: 68741976
12 NUP107 NM_020401.3(NUP107): c.2666A> G (p.Tyr889Cys) single nucleotide variant Likely pathogenic GRCh37 Chromosome 12, 69135756: 69135756

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

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10 dbSNP
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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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