PKD5
MCID: PLY141
MIFTS: 18

Polycystic Kidney Disease 5 (PKD5)

Categories: Blood diseases, Genetic diseases, Liver diseases, Nephrological diseases, Rare diseases, Reproductive diseases

Aliases & Classifications for Polycystic Kidney Disease 5

MalaCards integrated aliases for Polycystic Kidney Disease 5:

Name: Polycystic Kidney Disease 5 58 12 76 30 6
Pkd5 58 76

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
variable severity
slowly progressive
onset in early childhood
most patients require renal transplant in the second or third decades


HPO:

33
polycystic kidney disease 5:
Onset and clinical course variable expressivity slow progression


Classifications:



External Ids:

Disease Ontology 12 DOID:0080273
OMIM 58 617610
MeSH 45 D007690
SNOMED-CT via HPO 70 433146000 82525005

Summaries for Polycystic Kidney Disease 5

OMIM : 58 PKD5, a form of autosomal recessive polycystic kidney disease (ARPKD), is characterized by early childhood onset of progressive renal dysfunction associated with enlarged hyperechogenic kidneys that often results in end-stage renal disease in the second or third decade of life. Arterial hypertension is apparent in early childhood (summary by Lu et al., 2017). For a discussion of genetic heterogeneity of polycystic kidney disease, see PKD1 (173900). (617610)

MalaCards based summary : Polycystic Kidney Disease 5, is also known as pkd5. An important gene associated with Polycystic Kidney Disease 5 is DZIP1L (DAZ Interacting Zinc Finger Protein 1 Like). Affiliated tissues include kidney and liver, and related phenotypes are polycystic kidney dysplasia and stage 5 chronic kidney disease

Disease Ontology : 12 A autosomal dominant polycystic kidney disease that has material basis in autosomal dominant inheritance of homozygous mutation in the DZIP1L gene on chromosome 3q22.

UniProtKB/Swiss-Prot : 76 Polycystic kidney disease 5: A form of polycystic kidney disease, a disorder characterized by progressive formation and enlargement of cysts in both kidneys, typically leading to end-stage renal disease in adult life. Cysts may also occur in other organs, particularly the liver. PKD5 inheritance is autosomal recessive.

Related Diseases for Polycystic Kidney Disease 5

Symptoms & Phenotypes for Polycystic Kidney Disease 5

Human phenotypes related to Polycystic Kidney Disease 5:

33
# Description HPO Frequency HPO Source Accession
1 polycystic kidney dysplasia 33 HP:0000113
2 stage 5 chronic kidney disease 33 HP:0003774
3 hyperechogenic kidneys 33 HP:0004719

Symptoms via clinical synopsis from OMIM:

58
Genitourinary Kidneys:
hyperechogenic kidneys
polycystic kidneys
end-stage renal disease
enlarged kidneys
multiple tiny cysts
more
Cardiovascular Vascular:
arterial hypertension (due to renal disease)

Laboratory Abnormalities:
increased urinary creatine
impaired creatinine clearance

Clinical features from OMIM:

617610

Drugs & Therapeutics for Polycystic Kidney Disease 5

Search Clinical Trials , NIH Clinical Center for Polycystic Kidney Disease 5

Genetic Tests for Polycystic Kidney Disease 5

Genetic tests related to Polycystic Kidney Disease 5:

# Genetic test Affiliating Genes
1 Polycystic Kidney Disease 5 30 DZIP1L

Anatomical Context for Polycystic Kidney Disease 5

MalaCards organs/tissues related to Polycystic Kidney Disease 5:

42
Kidney, Liver

Publications for Polycystic Kidney Disease 5

Variations for Polycystic Kidney Disease 5

UniProtKB/Swiss-Prot genetic disease variations for Polycystic Kidney Disease 5:

76
# Symbol AA change Variation ID SNP ID
1 DZIP1L p.Ala90Val VAR_078962 rs555349004
2 DZIP1L p.Gln91His VAR_078963 rs113540275

ClinVar genetic disease variations for Polycystic Kidney Disease 5:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 DZIP1L NM_173543.2(DZIP1L): c.269C> T (p.Ala90Val) single nucleotide variant Pathogenic rs555349004 GRCh37 Chromosome 3, 137822545: 137822545
2 DZIP1L NM_173543.2(DZIP1L): c.269C> T (p.Ala90Val) single nucleotide variant Pathogenic rs555349004 GRCh38 Chromosome 3, 138103703: 138103703
3 DZIP1L NM_173543.2(DZIP1L): c.273G> C (p.Gln91His) single nucleotide variant Pathogenic rs1135402754 GRCh37 Chromosome 3, 137822541: 137822541
4 DZIP1L NM_173543.2(DZIP1L): c.273G> C (p.Gln91His) single nucleotide variant Pathogenic rs1135402754 GRCh38 Chromosome 3, 138103699: 138103699
5 DZIP1L NM_173543.2(DZIP1L): c.463C> T (p.Gln155Ter) single nucleotide variant Pathogenic rs1135402755 GRCh37 Chromosome 3, 137822351: 137822351
6 DZIP1L NM_173543.2(DZIP1L): c.463C> T (p.Gln155Ter) single nucleotide variant Pathogenic rs1135402755 GRCh38 Chromosome 3, 138103509: 138103509
7 DZIP1L NM_173543.2(DZIP1L): c.1061_1062delAG (p.Glu354Alafs) deletion Pathogenic rs1135402756 GRCh37 Chromosome 3, 137805803: 137805804
8 DZIP1L NM_173543.2(DZIP1L): c.1061_1062delAG (p.Glu354Alafs) deletion Pathogenic rs1135402756 GRCh38 Chromosome 3, 138086961: 138086962

Expression for Polycystic Kidney Disease 5

Search GEO for disease gene expression data for Polycystic Kidney Disease 5.

Pathways for Polycystic Kidney Disease 5

GO Terms for Polycystic Kidney Disease 5

Sources for Polycystic Kidney Disease 5

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
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45 MeSH
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50 NCI
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52 NDF-RT
55 NINDS
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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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