NPHS13
MCID: NPH093
MIFTS: 17

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 58 30 6 41
Nphs13 58 76
Nephrotic Syndrome Type 13 12
Nephrotic Syndrome 13 76

Characteristics:

HPO:

33
nephrotic syndrome, type 13:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0080381
OMIM 58 616893
MeSH 45 D009404

Summaries for Nephrotic Syndrome, Type 13

UniProtKB/Swiss-Prot : 76 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.

Description from OMIM: 616893

Related Diseases for Nephrotic Syndrome, Type 13

Symptoms & Phenotypes for Nephrotic Syndrome, Type 13

Human phenotypes related to Nephrotic Syndrome, Type 13:

33
# Description HPO Frequency HPO Source Accession
1 stage 5 chronic kidney disease 33 HP:0003774
2 focal segmental glomerulosclerosis 33 HP:0000097
3 steroid-resistant nephrotic syndrome 33 HP:0012588

Clinical features from OMIM:

616893

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 30 NUP205

Anatomical Context for Nephrotic Syndrome, Type 13

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

42
Kidney

Publications for Nephrotic Syndrome, Type 13

Articles related to Nephrotic Syndrome, Type 13:

# Title Authors Year
1
Mutations in nuclear pore genes NUP93, NUP205 and XPO5 cause steroid-resistant nephrotic syndrome. ( 26878725 )
2016

Variations for Nephrotic Syndrome, Type 13

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

76
# Symbol AA change Variation ID SNP ID
1 NUP205 p.Phe1995Ser VAR_076471 rs869312984

ClinVar genetic disease variations for Nephrotic Syndrome, Type 13:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 NUP205 NM_015135.2(NUP205): c.5984T> C (p.Phe1995Ser) single nucleotide variant Pathogenic rs869312984 GRCh37 Chromosome 7, 135333249: 135333249
2 NUP205 NM_015135.2(NUP205): c.5984T> C (p.Phe1995Ser) single nucleotide variant Pathogenic rs869312984 GRCh38 Chromosome 7, 135648501: 135648501

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
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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