MCID: NPH095
MIFTS: 19

Nephrotic Syndrome, Type 11

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

Aliases & Classifications for Nephrotic Syndrome, Type 11

MalaCards integrated aliases for Nephrotic Syndrome, Type 11:

Name: Nephrotic Syndrome, Type 11 57 29 6
Nphs11 57 75
Nephrotic Syndrome 11 75

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

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


HPO:

32
nephrotic syndrome, type 11:
Inheritance autosomal recessive inheritance
Onset and clinical course progressive variable expressivity


Classifications:



Summaries for Nephrotic Syndrome, Type 11

UniProtKB/Swiss-Prot : 75 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 proteinuria and focal segmental glomerulosclerosis

OMIM : 57 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

Symptoms via clinical synopsis from OMIM:

57
Genitourinary Kidneys:
nephrotic syndrome
focal segmental glomerulosclerosis seen on renal biopsy
minimal change disease
end-stage renal disease

Laboratory Abnormalities:
proteinuria
decreased serum albumin


Clinical features from OMIM:

616730

Human phenotypes related to Nephrotic Syndrome, Type 11:

32 (show all 6)
# Description HPO Frequency HPO Source Accession
1 proteinuria 32 HP:0000093
2 focal segmental glomerulosclerosis 32 very rare (1%) HP:0000097
3 nephrotic syndrome 32 HP:0000100
4 hypoalbuminemia 32 HP:0003073
5 stage 5 chronic kidney disease 32 HP:0003774
6 minimal change glomerulonephritis 32 HP:0012579

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:

41
Kidney

Publications for Nephrotic Syndrome, Type 11

Variations for Nephrotic Syndrome, Type 11

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

75
# Symbol AA change Variation ID SNP ID
1 NUP107 p.Asp157Tyr VAR_076358 rs864321633
2 NUP107 p.Asp831Ala VAR_076359 rs864321632

ClinVar genetic disease variations for Nephrotic Syndrome, Type 11:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 NUP107 NM_020401.3(NUP107): c.2492A> C (p.Asp831Ala) single nucleotide variant Pathogenic rs864321632 GRCh37 Chromosome 12, 69129114: 69129114
2 NUP107 NM_020401.3(NUP107): c.2492A> C (p.Asp831Ala) single nucleotide variant Pathogenic rs864321632 GRCh38 Chromosome 12, 68735334: 68735334
3 NUP107 NM_020401.3(NUP107): c.1079_1083delAAGAG (p.Glu360Glyfs) deletion Pathogenic rs864321687 GRCh38 Chromosome 12, 68715736: 68715740
4 NUP107 NM_020401.3(NUP107): c.1079_1083delAAGAG (p.Glu360Glyfs) deletion Pathogenic rs864321687 GRCh37 Chromosome 12, 69109516: 69109520
5 NUP107 NM_020401.3(NUP107): c.969+1G> A single nucleotide variant Pathogenic rs864321688 GRCh38 Chromosome 12, 68713809: 68713809
6 NUP107 NM_020401.3(NUP107): c.969+1G> A single nucleotide variant Pathogenic rs864321688 GRCh37 Chromosome 12, 69107589: 69107589
7 NUP107 NM_020401.3(NUP107): c.469G> T (p.Asp157Tyr) single nucleotide variant Pathogenic rs864321633 GRCh37 Chromosome 12, 69090619: 69090619
8 NUP107 NM_020401.3(NUP107): c.469G> T (p.Asp157Tyr) single nucleotide variant Pathogenic rs864321633 GRCh38 Chromosome 12, 68696839: 68696839

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 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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