MCID: NPH065
MIFTS: 22

Nephronophthisis 13

Categories: Genetic diseases, Nephrological diseases, Rare diseases

Aliases & Classifications for Nephronophthisis 13

MalaCards integrated aliases for Nephronophthisis 13:

Name: Nephronophthisis 13 57 12 75 29 13 6 73
Nphp13 57 12 75
Nephronophthisis, Type 13 40

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive


HPO:

32
nephronophthisis 13:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 614377
Disease Ontology 12 DOID:0111121
MedGen 42 C3280612
MeSH 44 D052177
UMLS 73 C3280612

Summaries for Nephronophthisis 13

UniProtKB/Swiss-Prot : 75 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 caroli disease, isolated and caroli disease. An important gene associated with Nephronophthisis 13 is WDR19 (WD Repeat Domain 19). Affiliated tissues include kidney, and related phenotypes are renal hypoplasia and nephronophthisis

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

Symptoms & Phenotypes for Nephronophthisis 13

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Eyes:
retinal dystrophy (in some patients)

Abdomen Pancreas:
pancreatic cysts (in some patients)

Skeletal Hands:
polydactyly (in some patients)

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

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


Clinical features from OMIM:

614377

Human phenotypes related to Nephronophthisis 13:

32 (show all 8)
# Description HPO Frequency HPO Source Accession
1 renal hypoplasia 32 HP:0000089
2 nephronophthisis 32 HP:0000090
3 retinal dystrophy 32 occasional (7.5%) HP:0000556
4 hepatic cysts 32 occasional (7.5%) HP:0001407
5 pancreatic cysts 32 occasional (7.5%) HP:0001737
6 stage 5 chronic kidney disease 32 HP:0003774
7 polydactyly 32 occasional (7.5%) HP:0010442
8 mild proteinuria 32 occasional (7.5%) HP:0012595

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 29 WDR19

Anatomical Context for Nephronophthisis 13

MalaCards organs/tissues related to Nephronophthisis 13:

41
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:

75
# 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

Sources for Nephronophthisis 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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