NPHS12
MCID: NPH096
MIFTS: 21

Nephrotic Syndrome, Type 12 (NPHS12)

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

Aliases & Classifications for Nephrotic Syndrome, Type 12

MalaCards integrated aliases for Nephrotic Syndrome, Type 12:

Name: Nephrotic Syndrome, Type 12 58 30 6 41
Nphs12 58 76
Nephrotic Syndrome Type 12 12
Nephrotic Syndrome 12 76

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
progressive disorder
onset in early childhood
partial or absent response to steroid treatment


HPO:

33
nephrotic syndrome, type 12:
Onset and clinical course progressive
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Nephrotic Syndrome, Type 12

UniProtKB/Swiss-Prot : 76 Nephrotic syndrome 12: 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. NPHS12 inheritance is autosomal recessive.

MalaCards based summary : Nephrotic Syndrome, Type 12, is also known as nphs12. An important gene associated with Nephrotic Syndrome, Type 12 is NUP93 (Nucleoporin 93). Affiliated tissues include kidney, and related phenotypes are focal segmental glomerulosclerosis and steroid-resistant nephrotic syndrome

Disease Ontology : 12 A familial nephrotic syndrome characterized by early childhood onset of steroid-resistant progressive renal failure with focal segmental glomerulosclerosis that has material basis in homozygous or compound heterozygous mutation in the NUP93 gene on chromosome 16q13.

OMIM : 58 Nephrotic syndrome type 12 is an autosomal recessive renal disorder caused by defects in the renal glomerular filter. Affected individuals have onset of progressive renal failure in the first years of life. Renal biopsy typically shows focal segmental glomerulosclerosis (FSGS) (summary by Braun et al., 2016). For a general phenotypic description and a discussion of genetic heterogeneity of nephrotic syndrome, see NPHS1 (256300). (616892)

Related Diseases for Nephrotic Syndrome, Type 12

Symptoms & Phenotypes for Nephrotic Syndrome, Type 12

Human phenotypes related to Nephrotic Syndrome, Type 12:

33
# Description HPO Frequency HPO Source Accession
1 focal segmental glomerulosclerosis 33 very rare (1%) HP:0000097
2 steroid-resistant nephrotic syndrome 33 very rare (1%) HP:0012588
3 hematuria 33 HP:0000790
4 stage 5 chronic kidney disease 33 HP:0003774
5 diffuse mesangial sclerosis 33 HP:0001967

Symptoms via clinical synopsis from OMIM:

58
Genitourinary Kidneys:
nephrotic syndrome
focal segmental glomerulosclerosis
end-stage renal disease
diffuse mesangial sclerosis
proximal tubular dilation
more
Laboratory Abnormalities:
hematuria

Clinical features from OMIM:

616892

Drugs & Therapeutics for Nephrotic Syndrome, Type 12

Search Clinical Trials , NIH Clinical Center for Nephrotic Syndrome, Type 12

Genetic Tests for Nephrotic Syndrome, Type 12

Genetic tests related to Nephrotic Syndrome, Type 12:

# Genetic test Affiliating Genes
1 Nephrotic Syndrome, Type 12 30 NUP93

Anatomical Context for Nephrotic Syndrome, Type 12

MalaCards organs/tissues related to Nephrotic Syndrome, Type 12:

42
Kidney

Publications for Nephrotic Syndrome, Type 12

Articles related to Nephrotic Syndrome, Type 12:

# Title Authors Year
1
Mutations in nuclear pore genes NUP93, NUP205 and XPO5 cause steroid-resistant nephrotic syndrome. ( 26878725 )
2016

Variations for Nephrotic Syndrome, Type 12

UniProtKB/Swiss-Prot genetic disease variations for Nephrotic Syndrome, Type 12:

76
# Symbol AA change Variation ID SNP ID
1 NUP93 p.Arg388Trp VAR_076473 rs145146218
2 NUP93 p.Gly591Val VAR_076474 rs145473779
3 NUP93 p.Tyr629Cys VAR_076475 rs757674160

ClinVar genetic disease variations for Nephrotic Syndrome, Type 12:

6 (show all 12)
# Gene Variation Type Significance SNP ID Assembly Location
1 NUP93 NM_014669.4(NUP93): c.1772G> T (p.Gly591Val) single nucleotide variant Pathogenic rs145473779 GRCh37 Chromosome 16, 56868680: 56868680
2 NUP93 NM_014669.4(NUP93): c.1772G> T (p.Gly591Val) single nucleotide variant Pathogenic rs145473779 GRCh38 Chromosome 16, 56834768: 56834768
3 NUP93 NM_014669.4(NUP93): c.1886A> G (p.Tyr629Cys) single nucleotide variant Pathogenic rs757674160 GRCh37 Chromosome 16, 56870616: 56870616
4 NUP93 NM_014669.4(NUP93): c.1886A> G (p.Tyr629Cys) single nucleotide variant Pathogenic rs757674160 GRCh38 Chromosome 16, 56836704: 56836704
5 NUP93 NM_014669.4(NUP93): c.1326delG (p.Lys442Asnfs) deletion Pathogenic rs869320695 GRCh38 Chromosome 16, 56832369: 56832369
6 NUP93 NM_014669.4(NUP93): c.1326delG (p.Lys442Asnfs) deletion Pathogenic rs869320695 GRCh37 Chromosome 16, 56866281: 56866281
7 NUP93 NM_014669.4(NUP93): c.1537+1G> A single nucleotide variant Pathogenic rs138909849 GRCh38 Chromosome 16, 56833407: 56833407
8 NUP93 NM_014669.4(NUP93): c.1537+1G> A single nucleotide variant Pathogenic rs138909849 GRCh37 Chromosome 16, 56867319: 56867319
9 NUP93 NM_014669.4(NUP93): c.1162C> T (p.Arg388Trp) single nucleotide variant Pathogenic rs145146218 GRCh37 Chromosome 16, 56865830: 56865830
10 NUP93 NM_014669.4(NUP93): c.1162C> T (p.Arg388Trp) single nucleotide variant Pathogenic rs145146218 GRCh38 Chromosome 16, 56831918: 56831918
11 NUP93 NM_014669.5(NUP93): c.1709T> A (p.Val570Glu) single nucleotide variant Likely pathogenic GRCh37 Chromosome 16, 56868326: 56868326
12 NUP93 NM_014669.5(NUP93): c.1709T> A (p.Val570Glu) single nucleotide variant Likely pathogenic GRCh38 Chromosome 16, 56834414: 56834414

Expression for Nephrotic Syndrome, Type 12

Search GEO for disease gene expression data for Nephrotic Syndrome, Type 12.

Pathways for Nephrotic Syndrome, Type 12

GO Terms for Nephrotic Syndrome, Type 12

Sources for Nephrotic Syndrome, Type 12

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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