MCID: PLY141
MIFTS: 16

Polycystic Kidney Disease 5

Categories: Genetic 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 6
Pkd5 57 75

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

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


Classifications:



External Ids:

OMIM 57 617610
Disease Ontology 12 DOID:0080273
MeSH 44 D007690

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). (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.

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
Cardiovascular Vascular:
arterial hypertension (due to renal disease)

Laboratory Abnormalities:
increased urinary creatine
impaired creatinine clearance

Genitourinary Kidneys:
polycystic kidneys
multiple tiny cysts
enlarged kidneys
hyperechogenic kidneys
poor cortico-medullary differentiation
more

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

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

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 GRCh38 Chromosome 3, 138103509: 138103509
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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