MCID: NPH096
MIFTS: 23

Nephrotic Syndrome, Type 12

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

Aliases & Classifications for Nephrotic Syndrome, Type 12

MalaCards integrated aliases for Nephrotic Syndrome, Type 12:

Name: Nephrotic Syndrome, Type 12 54 29
Nphs12 24 71
Nephrotic Syndrome Type 12 24
Nephrotic Syndrome 12 71

Characteristics:

OMIM:

54
Miscellaneous:
partial or absent response to steroid treatment
onset in early childhood
progressive disorder

Inheritance:
autosomal recessive


HPO:

32
nephrotic syndrome, type 12:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 54 616892
MedGen 40 CN235925
MeSH 42 D009404

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 focal segmental glomerulosclerosis and steroid-resistant nephrotic syndrome. An important gene associated with Nephrotic Syndrome, Type 12 is NUP93 (Nucleoporin 93). The drugs Mycophenolate mofetil and Mycophenolic acid have been mentioned in the context of this disorder. Affiliated tissues include kidney.

OMIM : 54
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)

Symptoms & Phenotypes for Nephrotic Syndrome, Type 12

Symptoms via clinical synopsis from OMIM:

54

Genitourinary- Kidneys:
partial effacement of foot processes seen on electron microscopy
interstitial cell infiltrations
protein casts
proximal tubular dilation
diffuse mesangial sclerosis
more
Laboratory- Abnormalities:
hematuria


Clinical features from OMIM:

616892

Human phenotypes related to Nephrotic Syndrome, Type 12:

32
id Description HPO Frequency HPO Source Accession
1 focal segmental glomerulosclerosis 32 very rare (1%) HP:0000097
2 steroid-resistant nephrotic syndrome 32 very rare (1%) HP:0012588

Drugs & Therapeutics for Nephrotic Syndrome, Type 12

Drugs for Nephrotic Syndrome, Type 12 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 14)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Mycophenolate mofetil Approved, Investigational Phase 4 128794-94-5 5281078
2
Mycophenolic acid Approved Phase 4 24280-93-1 446541
3
Tacrolimus Approved, Investigational Phase 4 104987-11-3 445643 439492
4 Anti-Bacterial Agents Phase 4
5 Antibiotics, Antitubercular Phase 4
6 Calcineurin Inhibitors Phase 4
7 Immunosuppressive Agents Phase 4
8 Adrenocorticotropic Hormone Phase 2
9 beta-endorphin Phase 2
10 Hormone Antagonists Phase 2
11 Hormones Phase 2
12 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 2
13 Melanocyte-Stimulating Hormones Phase 2
14 glucocorticoids

Interventional clinical trials:


id Name Status NCT ID Phase Drugs
1 Mycophenolate Mofetil and Tacrolimus Versus Tacrolimus for the Treatment of Idiopathic Membranous Glomerulonephritis (IMG) Active, not recruiting NCT00843856 Phase 4 tacrolimus;tacrolimus and mycophenolate mofetil
2 Acthar for Treatment of Proteinuria in Diabetic Nephropathy Patients Completed NCT01601236 Phase 2 Repository Corticotropin Injection;Placebo
3 Steroid-Induced Osteoporosis in the Pediatric Population - Canadian Incidence Study Completed NCT01663129
4 Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford Recruiting NCT01793168

Search NIH Clinical Center for Nephrotic Syndrome, Type 12

Genetic Tests for Nephrotic Syndrome, Type 12

Genetic tests related to Nephrotic Syndrome, Type 12:

id Genetic test Affiliating Genes
1 Nephrotic Syndrome, Type 12 29
2 Nephrotic Syndrome Type 12 24 NUP93

Anatomical Context for Nephrotic Syndrome, Type 12

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

39
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
id 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
id 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
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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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