NPHS20
MCID: NPH108
MIFTS: 22

Nephrotic Syndrome, Type 20 (NPHS20)

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

Aliases & Classifications for Nephrotic Syndrome, Type 20

MalaCards integrated aliases for Nephrotic Syndrome, Type 20:

Name: Nephrotic Syndrome, Type 20 56 6
Nphs20 56 73
Nephrotic Syndrome 20 73

Characteristics:

OMIM:

56
Inheritance:
x-linked

Miscellaneous:
males have onset at birth or in the first years of life
females may be unaffected or have proteinuria
two unrelated families have been reported (last curated july 2019)


HPO:

31
nephrotic syndrome, type 20:
Inheritance x-linked inheritance


Classifications:



External Ids:

OMIM 56 301028
OMIM Phenotypic Series 56 PS256300
MeSH 43 D009404

Summaries for Nephrotic Syndrome, Type 20

UniProtKB/Swiss-Prot : 73 Nephrotic syndrome 20: 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 that progresses to end-stage renal failure. NPHS20 is a X-linked, steroid-resistant form with onset at birth or in the first years of life in affected males. Death in childhood may occur in absence of renal transplantation. Carrier females may be unaffected or have a mild disease with proteinuria.

MalaCards based summary : Nephrotic Syndrome, Type 20, also known as nphs20, is related to membranous nephropathy and nephrotic syndrome. An important gene associated with Nephrotic Syndrome, Type 20 is TBC1D8B (TBC1 Domain Family Member 8B). Affiliated tissues include kidney and endothelial, and related phenotypes are proteinuria and nephrotic syndrome

OMIM : 56 Nephrotic syndrome type 20 (NPHS20) is an X-linked renal disorder characterized by onset of steroid-resistant nephrotic syndrome and proteinuria in the first years of life in affected males. The disorder results in end-stage kidney disease and may cause death in childhood without renal transplantation. Carrier females may have a milder disorder with proteinuria or may be unaffected. Renal biopsy typically shows focal segmental glomerulosclerosis (FSGS) and effacement of podocyte foot processes (summary by Dorval et al., 2019). For a general phenotypic description and a discussion of genetic heterogeneity of nephrotic syndrome, see NPHS1 (256300). (301028)

Related Diseases for Nephrotic Syndrome, Type 20

Symptoms & Phenotypes for Nephrotic Syndrome, Type 20

Human phenotypes related to Nephrotic Syndrome, Type 20:

31
# Description HPO Frequency HPO Source Accession
1 proteinuria 31 HP:0000093
2 nephrotic syndrome 31 HP:0000100
3 stage 5 chronic kidney disease 31 HP:0003774
4 focal segmental glomerulosclerosis 31 HP:0000097

Symptoms via clinical synopsis from OMIM:

56
Laboratory Abnormalities:
proteinuria

Prenatal Manifestations Maternal:
pre-eclampsia when carrying affected males

Genitourinary Kidneys:
nephrotic syndrome
end-stage renal disease (in affected males)
focal segmental glomerulosclerosis (fsgs)
effacement of foot processes

Clinical features from OMIM:

301028

Drugs & Therapeutics for Nephrotic Syndrome, Type 20

Search Clinical Trials , NIH Clinical Center for Nephrotic Syndrome, Type 20

Genetic Tests for Nephrotic Syndrome, Type 20

Anatomical Context for Nephrotic Syndrome, Type 20

MalaCards organs/tissues related to Nephrotic Syndrome, Type 20:

40
Kidney, Endothelial

Publications for Nephrotic Syndrome, Type 20

Articles related to Nephrotic Syndrome, Type 20:

(show all 11)
# Title Authors PMID Year
1
TBC1D8B Loss-of-Function Mutations Lead to X-Linked Nephrotic Syndrome via Defective Trafficking Pathways. 56 6
30661770 2019
2
EVALUATION OF GENE POLYMORPHISM OF IL-1Β AND IL-10 IN CHILDREN WITH NEPHROTIC SYNDROME. 61
31687952 2019
3
Lupus glomerulonephritis in 788 Chinese children: a multi-centre clinical and histopathological analysis based on 549 renal biopsies. 61
28463080 2017
4
P-Glycoprotein Activity in Steroid-Responsive vs. Steroid-Resistant Nephrotic Syndrome. 61
27193461 2016
5
Spectrum of biopsy-proven kidney disease in children at a Jordanian Hospital. 61
24821178 2014
6
Clinical characteristics and long-term follow-up of patients with renal vein thrombosis. 61
18215700 2008
7
Endothelial dysfunction in the nephrotic syndrome. 61
18928161 2007
8
Pediatric live-donor kidney transplantation in Mansoura Urology & Nephrology Center: a 28-year perspective. 61
16791608 2006
9
Anti-oxidant status in relation to lipoproteins, leptin and pro-inflammatory cytokines in children with steroid-sensitive nephrotic syndrome. 61
15663638 2004
10
Inhibitor of the thrombin time in systemic amyloidosis: a common coagulation abnormality. 61
1904284 1991
11
The nephrotic syndrome in adults aged over 60: etiology, evolution and treatment of 76 cases. 61
7094440 1982

Variations for Nephrotic Syndrome, Type 20

ClinVar genetic disease variations for Nephrotic Syndrome, Type 20:

6 ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 TBC1D8B NM_017752.3(TBC1D8B):c.738G>C (p.Gln246His)SNV Likely pathogenic 635779 X:106066607-106066607 X:106823377-106823377
2 TBC1D8B NM_017752.3(TBC1D8B):c.872T>C (p.Phe291Ser)SNV Likely pathogenic 635780 X:106069304-106069304 X:106826074-106826074

UniProtKB/Swiss-Prot genetic disease variations for Nephrotic Syndrome, Type 20:

73
# Symbol AA change Variation ID SNP ID
1 TBC1D8B p.Gln246His VAR_082286 rs761410195
2 TBC1D8B p.Phe291Ser VAR_082287

Expression for Nephrotic Syndrome, Type 20

Search GEO for disease gene expression data for Nephrotic Syndrome, Type 20.

Pathways for Nephrotic Syndrome, Type 20

GO Terms for Nephrotic Syndrome, Type 20

Sources for Nephrotic Syndrome, Type 20

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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