NPHS12
MCID: NPH096
MIFTS: 29

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 57 29 6 39
Nphs12 57 72
Nephrotic Syndrome Type 12 12
Nephrotic Syndrome 12 72

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal recessive

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


HPO:

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


Classifications:



External Ids:

Disease Ontology 12 DOID:0080387
OMIM® 57 616892
OMIM Phenotypic Series 57 PS256300
MeSH 44 D009404

Summaries for Nephrotic Syndrome, Type 12

UniProtKB/Swiss-Prot : 72 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). The drugs Methylprednisolone and Prednisolone have been mentioned in the context of this disorder. Affiliated tissues include bone marrow, kidney and bone, 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® : 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) (Updated 20-May-2021)

Symptoms & Phenotypes for Nephrotic Syndrome, Type 12

Human phenotypes related to Nephrotic Syndrome, Type 12:

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

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Genitourinary Kidneys:
nephrotic syndrome
focal segmental glomerulosclerosis
diffuse mesangial sclerosis
end-stage renal disease
proximal tubular dilation
more
Laboratory Abnormalities:
hematuria

Clinical features from OMIM®:

616892 (Updated 20-May-2021)

Drugs & Therapeutics for Nephrotic Syndrome, Type 12

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

(show all 12)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Methylprednisolone Approved, Vet_approved Phase 4 83-43-2 6741
2
Prednisolone Approved, Vet_approved Phase 4 50-24-8 5755
3
Prednisolone acetate Approved, Vet_approved Phase 4 52-21-1
4
Mycophenolic acid Approved Phase 4 24280-93-1 446541
5
Methylprednisolone hemisuccinate Approved Phase 4 2921-57-5
6
Prednisolone phosphate Approved, Vet_approved Phase 4 302-25-0
7
Prednisolone hemisuccinate Experimental Phase 4 2920-86-7
8 Vaccines Phase 4
9 Methylprednisolone Acetate Phase 4
10 Immunologic Factors Phase 4
11 Cyclosporins Phase 4
12 Heptavalent Pneumococcal Conjugate Vaccine Phase 4

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Study of Safety, Immunogenicity and Immunological Memory of 7-valent Pneumococcal Conjugate Vaccine in Children With Idiopathic Nephrotic Syndrome Unknown status NCT01346007 Phase 4

Search 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:

40
Bone Marrow, Kidney, Bone

Publications for Nephrotic Syndrome, Type 12

Articles related to Nephrotic Syndrome, Type 12:

(show all 11)
# Title Authors PMID Year
1
Mutations in nuclear pore genes NUP93, NUP205 and XPO5 cause steroid-resistant nephrotic syndrome. 57 6
26878725 2016
2
Clinical utility of genetic testing in early-onset kidney disease: seven genes are the main players. 6
33532864 2021
3
Glycosaminoglycan excretion in children with nephrotic syndrome. 61
15714313 2005
4
Development of chronic renal failure in adult pure mesangial glomerulonephritis. 61
11921699 2002
5
[Clinical and pathologic analysis of Sjögren's syndrome with renal impairment: a report of 84 cases]. 61
11798600 2001
6
Follow-up of steroid-resistant nephrotic syndrome: tubular proteinuria and enzymuria. 61
11149121 2000
7
[A case of nephrotic syndrome after bone marrow transplantation]. 61
9198364 1997
8
Clinical and histopathologic findings in adults with the nephrotic syndrome. 61
2397982 1990
9
Increased platelet thromboxane synthesis in renal glomerular diseases. 61
3131782 1988
10
Reversible membranous glomerulonephritis associated with ketoprofen. 61
3780072 1986
11
Water excretion in nephrotic syndrome. Relationship between blood volume and plasma vasopressin. 61
6657679 1983

Variations for Nephrotic Syndrome, Type 12

ClinVar genetic disease variations for Nephrotic Syndrome, Type 12:

6 (show all 11)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 NUP93 NM_014669.5(NUP93):c.1537+1G>A SNV Pathogenic 224967 rs138909849 GRCh37: 16:56867319-56867319
GRCh38: 16:56833407-56833407
2 NUP93 NM_014669.5(NUP93):c.1886A>G (p.Tyr629Cys) SNV Pathogenic 224965 rs757674160 GRCh37: 16:56870616-56870616
GRCh38: 16:56836704-56836704
3 NUP93 NM_014669.5(NUP93):c.1326del (p.Lys442fs) Deletion Pathogenic 224966 rs869320695 GRCh37: 16:56866281-56866281
GRCh38: 16:56832369-56832369
4 NUP93 NM_014669.5(NUP93):c.1709T>A (p.Val570Glu) SNV Likely pathogenic 599141 rs1351580598 GRCh37: 16:56868326-56868326
GRCh38: 16:56834414-56834414
5 NUP93 NM_014669.5(NUP93):c.1772G>T (p.Gly591Val) SNV Likely pathogenic 224964 rs145473779 GRCh37: 16:56868680-56868680
GRCh38: 16:56834768-56834768
6 NUP93 NM_014669.5(NUP93):c.1162C>T (p.Arg388Trp) SNV Uncertain significance 224968 rs145146218 GRCh37: 16:56865830-56865830
GRCh38: 16:56831918-56831918
7 NUP93 NM_014669.5(NUP93):c.1837G>C (p.Ala613Pro) SNV Uncertain significance 635548 rs1596860697 GRCh37: 16:56870567-56870567
GRCh38: 16:56836655-56836655
8 NUP93 NM_014669.5(NUP93):c.1463A>G (p.His488Arg) SNV Uncertain significance 813919 rs1596856296 GRCh37: 16:56867244-56867244
GRCh38: 16:56833332-56833332
9 NUP93 NM_014669.5(NUP93):c.2079G>C (p.Leu693Phe) SNV Uncertain significance 813920 rs1334928223 GRCh37: 16:56872924-56872924
GRCh38: 16:56839012-56839012
10 NUP93 NM_014669.5(NUP93):c.621C>G (p.Asp207Glu) SNV Uncertain significance 829938 rs140226964 GRCh37: 16:56855472-56855472
GRCh38: 16:56821560-56821560
11 NUP93 NM_014669.5(NUP93):c.755T>A (p.Met252Lys) SNV Uncertain significance 829939 rs1596843391 GRCh37: 16:56857719-56857719
GRCh38: 16:56823807-56823807

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

72
# 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

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
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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