PKD5
MCID: PLY141
MIFTS: 24

Polycystic Kidney Disease 5 (PKD5)

Categories: Blood diseases, Endocrine 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 72 29 6
Pkd5 57 72

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal recessive

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


HPO:

31
polycystic kidney disease 5:
Inheritance autosomal recessive inheritance
Onset and clinical course variable expressivity slow progression


Classifications:



External Ids:

Disease Ontology 12 DOID:0080273
OMIM® 57 617610
OMIM Phenotypic Series 57 PS173900
MeSH 44 D007690
SNOMED-CT via HPO 68 258211005 433146000 82525005

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) (Updated 20-May-2021)

MalaCards based summary : Polycystic Kidney Disease 5, also known as pkd5, is related to polycystic kidney disease and kidney disease. 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 recessive polycystic kidney disease that has material basis in autosomal dominant inheritance of homozygous mutation in the DZIP1L gene on chromosome 3q22.

UniProtKB/Swiss-Prot : 72 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

Diseases in the Polycystic Kidney Disease family:

Polycystic Kidney Disease 5 Polycystic Kidney Disease 4
Autosomal Dominant Polycystic Kidney Disease

Diseases related to Polycystic Kidney Disease 5 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 polycystic kidney disease 10.0
2 kidney disease 10.0

Symptoms & Phenotypes for Polycystic Kidney Disease 5

Human phenotypes related to Polycystic Kidney Disease 5:

31
# Description HPO Frequency HPO Source Accession
1 polycystic kidney dysplasia 31 HP:0000113
2 stage 5 chronic kidney disease 31 HP:0003774
3 hyperechogenic kidneys 31 HP:0004719

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
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 (Updated 20-May-2021)

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:

40
Kidney, Liver

Publications for Polycystic Kidney Disease 5

Articles related to Polycystic Kidney Disease 5:

# Title Authors PMID Year
1
Mutations in DZIP1L, which encodes a ciliary-transition-zone protein, cause autosomal recessive polycystic kidney disease. 6 57
28530676 2017
2
Dominant and recessive polycystic kidney disease in children: classification by intravenous pyelography, ultrasound, and computed tomography. 61
3277138 1988
3
Fetal malformation and serum alpha-fetoprotein concentration of diabetic mothers. 61
2433853 1986
4
[Circumstances of discovery & developmental modalities in polycystic kidney disease; 5 case reports]. 61
13446640 1957

Variations for Polycystic Kidney Disease 5

ClinVar genetic disease variations for Polycystic Kidney Disease 5:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 DZIP1L NM_173543.3(DZIP1L):c.273G>C (p.Gln91His) SNV Pathogenic 431432 rs1135402754 GRCh37: 3:137822541-137822541
GRCh38: 3:138103699-138103699
2 DZIP1L NM_173543.3(DZIP1L):c.463C>T (p.Gln155Ter) SNV Pathogenic 431433 rs1135402755 GRCh37: 3:137822351-137822351
GRCh38: 3:138103509-138103509
3 DZIP1L NM_173543.3(DZIP1L):c.269C>T (p.Ala90Val) SNV Pathogenic 431431 rs555349004 GRCh37: 3:137822545-137822545
GRCh38: 3:138103703-138103703
4 DZIP1L NM_173543.3(DZIP1L):c.1059_1060AG[1] (p.Glu354fs) Microsatellite Pathogenic 431434 rs1135402756 GRCh37: 3:137805803-137805804
GRCh38: 3:138086961-138086962
5 DZIP1L NM_173543.3(DZIP1L):c.2300G>A (p.Trp767Ter) SNV Pathogenic 1030322 GRCh37: 3:137781662-137781662
GRCh38: 3:138062820-138062820
6 DZIP1L NM_173543.3(DZIP1L):c.727C>T (p.Gln243Ter) SNV Likely pathogenic 1030323 GRCh37: 3:137811368-137811368
GRCh38: 3:138092526-138092526

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

72
# Symbol AA change Variation ID SNP ID
1 DZIP1L p.Ala90Val VAR_078962 rs555349004
2 DZIP1L p.Gln91His VAR_078963 rs113540275

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
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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