NPHP13
MCID: NPH065
MIFTS: 31

Nephronophthisis 13 (NPHP13)

Categories: Genetic diseases, Liver diseases, Nephrological diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Nephronophthisis 13

MalaCards integrated aliases for Nephronophthisis 13:

Name: Nephronophthisis 13 58 12 76 30 13 6 15 74
Nphp13 58 12 76
Nephronophthisis, Type 13 41

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive


HPO:

33
nephronophthisis 13:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0111121
OMIM 58 614377
MeSH 45 D052177
MedGen 43 C3280612
UMLS 74 C3280612

Summaries for Nephronophthisis 13

UniProtKB/Swiss-Prot : 76 Nephronophthisis 13: An autosomal recessive disorder resulting in end-stage renal disease. It is a progressive tubulo-interstitial kidney disorder histologically characterized by modifications of the tubules with thickening of the basement membrane, interstitial fibrosis and, in the advanced stages, medullary cysts.

MalaCards based summary : Nephronophthisis 13, also known as nphp13, is related to nephronophthisis and caroli disease, isolated. An important gene associated with Nephronophthisis 13 is WDR19 (WD Repeat Domain 19). Affiliated tissues include kidney, and related phenotypes are pancreatic cysts and hepatic cysts

Disease Ontology : 12 A nephronophthisis that has material basis in homozygous or compound heterozygous mutation in the WDR19 gene on chromosome 4p14.

Description from OMIM: 614377

Related Diseases for Nephronophthisis 13

Graphical network of the top 20 diseases related to Nephronophthisis 13:



Diseases related to Nephronophthisis 13

Symptoms & Phenotypes for Nephronophthisis 13

Human phenotypes related to Nephronophthisis 13:

33 (show all 8)
# Description HPO Frequency HPO Source Accession
1 pancreatic cysts 33 occasional (7.5%) HP:0001737
2 hepatic cysts 33 occasional (7.5%) HP:0001407
3 retinal dystrophy 33 occasional (7.5%) HP:0000556
4 polydactyly 33 occasional (7.5%) HP:0010442
5 mild proteinuria 33 occasional (7.5%) HP:0012595
6 renal hypoplasia 33 HP:0000089
7 nephronophthisis 33 HP:0000090
8 stage 5 chronic kidney disease 33 HP:0003774

Symptoms via clinical synopsis from OMIM:

58
Genitourinary Kidneys:
small kidneys
interstitial fibrosis
renal failure, endstage
mild proteinuria (in some patients)
sclerotic glomeruli, 50% to 75%

Abdomen Liver:
hepatic cysts (in some patients)
dilatation of the intrahepatic bile ducts (in some patients)

Abdomen Pancreas:
pancreatic cysts (in some patients)

Skeletal Hands:
polydactyly (in some patients)

Head And Neck Eyes:
retinal dystrophy (in some patients)

Clinical features from OMIM:

614377

MGI Mouse Phenotypes related to Nephronophthisis 13:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 9.26 GLIS2 INVS NPHP1 WDR19
2 renal/urinary system MP:0005367 8.8 GLIS2 INVS NPHP1

Drugs & Therapeutics for Nephronophthisis 13

Search Clinical Trials , NIH Clinical Center for Nephronophthisis 13

Genetic Tests for Nephronophthisis 13

Genetic tests related to Nephronophthisis 13:

# Genetic test Affiliating Genes
1 Nephronophthisis 13 30 WDR19

Anatomical Context for Nephronophthisis 13

MalaCards organs/tissues related to Nephronophthisis 13:

42
Kidney

Publications for Nephronophthisis 13

Articles related to Nephronophthisis 13:

# Title Authors Year
1
Nephronophthisis 13: implications of its association with Caroli disease and altered intracellular localization of WDR19 in the kidney. ( 25726036 )
2015

Variations for Nephronophthisis 13

UniProtKB/Swiss-Prot genetic disease variations for Nephronophthisis 13:

76
# Symbol AA change Variation ID SNP ID
1 WDR19 p.Val345Gly VAR_067313 rs387906983

ClinVar genetic disease variations for Nephronophthisis 13:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 WDR19 NM_025132.3(WDR19): c.1034T> G (p.Val345Gly) single nucleotide variant Pathogenic rs387906983 GRCh37 Chromosome 4, 39217533: 39217533
2 WDR19 NM_025132.3(WDR19): c.1034T> G (p.Val345Gly) single nucleotide variant Pathogenic rs387906983 GRCh38 Chromosome 4, 39215913: 39215913
3 WDR19 NM_025132.3(WDR19): c.3068dupA (p.Tyr1023Terfs) duplication Pathogenic rs786205114 GRCh37 Chromosome 4, 39257534: 39257534
4 WDR19 NM_025132.3(WDR19): c.3068dupA (p.Tyr1023Terfs) duplication Pathogenic rs786205114 GRCh38 Chromosome 4, 39255914: 39255914
5 WDR19 NM_025132.3(WDR19): c.682C> T (p.Gln228Ter) single nucleotide variant Pathogenic rs587777350 GRCh37 Chromosome 4, 39206852: 39206852
6 WDR19 NM_025132.3(WDR19): c.682C> T (p.Gln228Ter) single nucleotide variant Pathogenic rs587777350 GRCh38 Chromosome 4, 39205232: 39205232
7 WDR19 NM_025132.3(WDR19): c.3703G> A (p.Glu1235Lys) single nucleotide variant Pathogenic rs587777351 GRCh37 Chromosome 4, 39276565: 39276565
8 WDR19 NM_025132.3(WDR19): c.3703G> A (p.Glu1235Lys) single nucleotide variant Pathogenic rs587777351 GRCh38 Chromosome 4, 39274945: 39274945

Expression for Nephronophthisis 13

Search GEO for disease gene expression data for Nephronophthisis 13.

Pathways for Nephronophthisis 13

GO Terms for Nephronophthisis 13

Cellular components related to Nephronophthisis 13 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cytoskeleton GO:0005856 9.54 INVS NPHP1 WDR19
2 cell projection GO:0042995 9.5 INVS NPHP1 WDR19
3 motile cilium GO:0031514 9.26 NPHP1 WDR19
4 photoreceptor connecting cilium GO:0032391 9.16 NPHP1 WDR19
5 cilium GO:0005929 9.13 INVS NPHP1 WDR19
6 non-motile cilium GO:0097730 8.62 GLIS2 WDR19

Biological processes related to Nephronophthisis 13 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cell projection organization GO:0030030 8.62 NPHP1 WDR19

Sources for Nephronophthisis 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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