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PKD5
MCID: PLY141
MIFTS: 24
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Polycystic Kidney Disease 5 (PKD5)
Categories:
Blood diseases, Genetic diseases, Liver diseases, Nephrological diseases, Rare diseases, Reproductive diseases
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MalaCards integrated aliases for Polycystic Kidney Disease 5:Characteristics:OMIM:56
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:
MalaCards categories:
Global: Genetic diseases Rare diseases Anatomical: Nephrological diseases Reproductive diseases Liver diseases Blood diseases |
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OMIM :
56
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, 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 : 73 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. |
Diseases in the Polycystic Kidney Disease family:
Diseases related to Polycystic Kidney Disease 5 via text searches within MalaCards or GeneCards Suite gene sharing:(showing 2, show less)
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Human phenotypes related to Polycystic Kidney Disease 5:31 (showing 3, show less)
Symptoms via clinical synopsis from OMIM:56Clinical features from OMIM:617610 |
Interventional clinical trials:(showing 1, show less)
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MalaCards organs/tissues related to Polycystic Kidney Disease 5:40
Kidney,
Liver
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Articles related to Polycystic Kidney Disease 5:(showing 4, show less)
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Genes related to Polycystic Kidney Disease 5 (1 elite genes):(showing 1, show less) - Elite gene
- Cancer Census gene in COSMIC
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ClinVar genetic disease variations for Polycystic Kidney Disease 5:6 (showing 4, show less)
UniProtKB/Swiss-Prot genetic disease variations for Polycystic Kidney Disease 5:73 (showing 2, show less)
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Search
GEO
for disease gene expression data for Polycystic Kidney Disease 5.
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