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 57 29 6 40
Nphs13 57 75
Nephrotic Syndrome 13 75

Characteristics:

HPO:

32
nephrotic syndrome, type 13:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 616893
MeSH 44 D009404

Summaries for Nephrotic Syndrome, Type 13

UniProtKB/Swiss-Prot : 75 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

Description from OMIM: 616893

Related Diseases for Nephrotic Syndrome, Type 13

Symptoms & Phenotypes for Nephrotic Syndrome, Type 13

Clinical features from OMIM:

616893

Human phenotypes related to Nephrotic Syndrome, Type 13:

32
# Description HPO Frequency HPO Source Accession
1 stage 5 chronic kidney disease 32 HP:0003774
2 focal segmental glomerulosclerosis 32 HP:0000097
3 steroid-resistant nephrotic syndrome 32 HP:0012588

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:

41
Kidney

Publications for Nephrotic Syndrome, Type 13

Variations for Nephrotic Syndrome, Type 13

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

75
# 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 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 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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