PKD5
MCID: PLY141
MIFTS: 19

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 57 12 75 29 6
Pkd5 57 75

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

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


HPO:

32
polycystic kidney disease 5:
Onset and clinical course variable expressivity slow progression


Classifications:



External Ids:

OMIM 57 617610
Disease Ontology 12 DOID:0080273
MeSH 44 D007690
SNOMED-CT via HPO 69 82525005 433146000

Summaries for Polycystic Kidney Disease 5

OMIM : 57 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 : 75 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

Symptoms via clinical synopsis from OMIM:

57
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

Human phenotypes related to Polycystic Kidney Disease 5:

32
# Description HPO Frequency HPO Source Accession
1 polycystic kidney dysplasia 32 HP:0000113
2 stage 5 chronic kidney disease 32 HP:0003774
3 hyperechogenic kidneys 32 HP:0004719

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 29 DZIP1L

Anatomical Context for Polycystic Kidney Disease 5

MalaCards organs/tissues related to Polycystic Kidney Disease 5:

41
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:

75
# 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.463C> T (p.Gln155Ter) single nucleotide variant Pathogenic rs1135402755 GRCh38 Chromosome 3, 138103509: 138103509
2 DZIP1L NM_173543.2(DZIP1L): c.269C> T (p.Ala90Val) single nucleotide variant Pathogenic rs555349004 GRCh37 Chromosome 3, 137822545: 137822545
3 DZIP1L NM_173543.2(DZIP1L): c.269C> T (p.Ala90Val) single nucleotide variant Pathogenic rs555349004 GRCh38 Chromosome 3, 138103703: 138103703
4 DZIP1L NM_173543.2(DZIP1L): c.273G> C (p.Gln91His) single nucleotide variant Pathogenic rs1135402754 GRCh37 Chromosome 3, 137822541: 137822541
5 DZIP1L NM_173543.2(DZIP1L): c.273G> C (p.Gln91His) single nucleotide variant Pathogenic rs1135402754 GRCh38 Chromosome 3, 138103699: 138103699
6 DZIP1L NM_173543.2(DZIP1L): c.463C> T (p.Gln155Ter) single nucleotide variant Pathogenic rs1135402755 GRCh37 Chromosome 3, 137822351: 137822351
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 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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