NPHS20
MCID: NPH108
MIFTS: 15

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 57 6
Nphs20 57

Characteristics:

OMIM:

57
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)


Classifications:



External Ids:

Summaries for Nephrotic Syndrome, Type 20

OMIM : 57 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)

MalaCards based summary : Nephrotic Syndrome, Type 20, is also known as nphs20. An important gene associated with Nephrotic Syndrome, Type 20 is TBC1D8B (TBC1 Domain Family Member 8B). Affiliated tissues include kidney.

Symptoms & Phenotypes for Nephrotic Syndrome, Type 20

Symptoms via clinical synopsis from OMIM:

57
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:

41
Kidney

Publications for Nephrotic Syndrome, Type 20

Articles related to Nephrotic Syndrome, Type 20:

# Title Authors PMID Year
1
TBC1D8B Loss-of-Function Mutations Lead to X-Linked Nephrotic Syndrome via Defective Trafficking Pathways. 8 71
30661770 2019

Variations for Nephrotic Syndrome, Type 20

ClinVar genetic disease variations for Nephrotic Syndrome, Type 20:

6
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 TBC1D8B NM_017752.3(TBC1D8B): c.738G> C (p.Gln246His) single nucleotide variant Pathogenic X:106066607-106066607 X:106823377-106823377
2 TBC1D8B NM_017752.3(TBC1D8B): c.872T> C (p.Phe291Ser) single nucleotide variant Pathogenic X:106069304-106069304 X:106826074-106826074

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 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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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