MCID: NPH096
MIFTS: 19

Nephrotic Syndrome, Type 12

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

Aliases & Classifications for Nephrotic Syndrome, Type 12

MalaCards integrated aliases for Nephrotic Syndrome, Type 12:

Name: Nephrotic Syndrome, Type 12 53 28
Nphs12 53 71
Nephrotic Syndrome 12 71

Characteristics:

OMIM:

53
Inheritance:
autosomal recessive

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


HPO:

31
nephrotic syndrome, type 12:
Inheritance autosomal recessive inheritance
Onset and clinical course progressive


Classifications:



Summaries for Nephrotic Syndrome, Type 12

UniProtKB/Swiss-Prot : 71 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, and has symptoms including hematuria, stage 5 chronic kidney disease and focal segmental glomerulosclerosis. An important gene associated with Nephrotic Syndrome, Type 12 is NUP93 (Nucleoporin 93). Affiliated tissues include kidney.

OMIM : 53 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

Symptoms via clinical synopsis from OMIM:

53
Genitourinary Kidneys:
nephrotic syndrome
end-stage renal disease
focal segmental glomerulosclerosis
diffuse mesangial sclerosis
proximal tubular dilation
more
Laboratory Abnormalities:
hematuria


Clinical features from OMIM:

616892

Human phenotypes related to Nephrotic Syndrome, Type 12:

31
# Description HPO Frequency HPO Source Accession
1 hematuria 31 HP:0000790
2 stage 5 chronic kidney disease 31 HP:0003774
3 focal segmental glomerulosclerosis 31 very rare (1%) HP:0000097
4 diffuse mesangial sclerosis 31 HP:0001967
5 steroid-resistant nephrotic syndrome 31 very rare (1%) HP:0012588

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 28 NUP93

Anatomical Context for Nephrotic Syndrome, Type 12

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

38
Kidney

Publications for Nephrotic Syndrome, Type 12

Variations for Nephrotic Syndrome, Type 12

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

71
# 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
# 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.1886A> G (p.Tyr629Cys) single nucleotide variant Pathogenic rs757674160 GRCh37 Chromosome 16, 56870616: 56870616
3 NUP93 NM_014669.4(NUP93): c.1326delG (p.Lys442Asnfs) deletion Pathogenic rs869320695 GRCh38 Chromosome 16, 56832369: 56832369
4 NUP93 NM_014669.4(NUP93): c.1537+1G> A single nucleotide variant Pathogenic rs138909849 GRCh38 Chromosome 16, 56833407: 56833407
5 NUP93 NM_014669.4(NUP93): c.1162C> T (p.Arg388Trp) single nucleotide variant Pathogenic rs145146218 GRCh37 Chromosome 16, 56865830: 56865830

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
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
Content
Loading form....