MCID: NPH096
MIFTS: 19

Nephrotic Syndrome, Type 12

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

Aliases & Classifications for Nephrotic Syndrome, Type 12

MalaCards integrated aliases for Nephrotic Syndrome, Type 12:

Name: Nephrotic Syndrome, Type 12 57 29 6
Nphs12 57 75
Nephrotic Syndrome 12 75

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

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


HPO:

32
nephrotic syndrome, type 12:
Inheritance autosomal recessive inheritance
Onset and clinical course progressive


Classifications:



Summaries for Nephrotic Syndrome, Type 12

UniProtKB/Swiss-Prot : 75 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 hematuria

OMIM : 57 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:

57
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:

32
# Description HPO Frequency HPO Source Accession
1 focal segmental glomerulosclerosis 32 very rare (1%) HP:0000097
2 hematuria 32 HP:0000790
3 diffuse mesangial sclerosis 32 HP:0001967
4 stage 5 chronic kidney disease 32 HP:0003774
5 steroid-resistant nephrotic syndrome 32 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 29 NUP93

Anatomical Context for Nephrotic Syndrome, Type 12

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

41
Kidney

Publications for Nephrotic Syndrome, Type 12

Variations for Nephrotic Syndrome, Type 12

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

75
# 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.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

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 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
Content
Loading form....