NPHS13
MCID: NPH093
MIFTS: 21

Nephrotic Syndrome, Type 13 (NPHS13)

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

Aliases & Classifications for Nephrotic Syndrome, Type 13

MalaCards integrated aliases for Nephrotic Syndrome, Type 13:

Name: Nephrotic Syndrome, Type 13 57 29 6 39
Nphs13 57 72
Nephrotic Syndrome Type 13 12
Nephrotic Syndrome 13 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
one turkish family has been reported (last curated august 2020)


HPO:

31
nephrotic syndrome, type 13:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0080381
OMIM® 57 616893
OMIM Phenotypic Series 57 PS256300
MeSH 44 D009404

Summaries for Nephrotic Syndrome, Type 13

UniProtKB/Swiss-Prot : 72 Nephrotic syndrome 13: 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.

MalaCards based summary : Nephrotic Syndrome, Type 13, is also known as nphs13. An important gene associated with Nephrotic Syndrome, Type 13 is NUP205 (Nucleoporin 205). Affiliated tissues include kidney, and related phenotypes are stage 5 chronic kidney disease and focal segmental glomerulosclerosis

Disease Ontology : 12 A familial nephrotic syndrome characterized by early onset of steroid-resistant nephrotic syndrome and focal segmental glomerulosclerosis that has material basis in homozygous mutation in the NUP205 gene on chromosome 7q33.

OMIM® : 57 Nephrotic syndrome type 13 is a steroid-resistant form of nephrotic syndrome with focal segmental glomerulosclerosis (Braun et al., 2016). (616893) (Updated 20-May-2021)

Symptoms & Phenotypes for Nephrotic Syndrome, Type 13

Human phenotypes related to Nephrotic Syndrome, Type 13:

31
# Description HPO Frequency HPO Source Accession
1 stage 5 chronic kidney disease 31 HP:0003774
2 focal segmental glomerulosclerosis 31 HP:0000097
3 steroid-resistant nephrotic syndrome 31 HP:0012588

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Genitourinary Kidneys:
nephrotic syndrome
focal segmental glomerulosclerosis
end-stage renal disease

Clinical features from OMIM®:

616893 (Updated 20-May-2021)

Drugs & Therapeutics for Nephrotic Syndrome, Type 13

Search Clinical Trials , NIH Clinical Center for Nephrotic Syndrome, Type 13

Genetic Tests for Nephrotic Syndrome, Type 13

Genetic tests related to Nephrotic Syndrome, Type 13:

# Genetic test Affiliating Genes
1 Nephrotic Syndrome, Type 13 29 NUP205

Anatomical Context for Nephrotic Syndrome, Type 13

MalaCards organs/tissues related to Nephrotic Syndrome, Type 13:

40
Kidney

Publications for Nephrotic Syndrome, Type 13

Articles related to Nephrotic Syndrome, Type 13:

# Title Authors PMID Year
1
Mutations in nuclear pore genes NUP93, NUP205 and XPO5 cause steroid-resistant nephrotic syndrome. 57 6
26878725 2016
2
Cryptococcemia According to Immune Status: An Analysis of 65 Critical Cases. 61
33326059 2021
3
Nephrin redistribution on podocytes is a potential mechanism for proteinuria in patients with primary acquired nephrotic syndrome. 61
11337370 2001
4
[Tissue-type plasminogen activator in patients with lupus nephritis]. 61
7638768 1995
5
Sodium excretion and renal precession of sodium over inulin. 61
2058744 1991
6
The nephrotic syndrome in adults aged over 60: etiology, evolution and treatment of 76 cases. 61
7094440 1982
7
[Secondary amyloidosis in Hodgkin's disease]. 61
919507 1977
8
Pregnancy and the nephrotic syndrome. 61
5762644 1969

Variations for Nephrotic Syndrome, Type 13

ClinVar genetic disease variations for Nephrotic Syndrome, Type 13:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 NUP205 NM_015135.3(NUP205):c.5984T>C (p.Phe1995Ser) SNV Pathogenic 224969 rs869312984 GRCh37: 7:135333249-135333249
GRCh38: 7:135648501-135648501
2 NUP205 NM_015135.3(NUP205):c.3329T>C (p.Leu1110Pro) SNV Likely pathogenic 807642 rs1584675898 GRCh37: 7:135300682-135300682
GRCh38: 7:135615934-135615934

UniProtKB/Swiss-Prot genetic disease variations for Nephrotic Syndrome, Type 13:

72
# Symbol AA change Variation ID SNP ID
1 NUP205 p.Phe1995Ser VAR_076471 rs869312984

Expression for Nephrotic Syndrome, Type 13

Search GEO for disease gene expression data for Nephrotic Syndrome, Type 13.

Pathways for Nephrotic Syndrome, Type 13

GO Terms for Nephrotic Syndrome, Type 13

Sources for Nephrotic Syndrome, Type 13

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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