PKD4
MCID: PLY170
MIFTS: 64
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Polycystic Kidney Disease 4 with or Without Polycystic Liver Disease (PKD4)
Categories:
Genetic diseases, Liver diseases, Nephrological diseases, Rare diseases, Reproductive diseases
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Aliases & Classifications for Polycystic Kidney Disease 4 with or Without Polycystic Liver...
MalaCards integrated aliases for Polycystic Kidney Disease 4 with or Without Polycystic Liver Disease:
Name: Polycystic Kidney Disease 4 with or Without Polycystic Liver Disease
56
Characteristics:Orphanet epidemiological data:58
autosomal recessive polycystic kidney disease
Inheritance: Autosomal recessive; Prevalence: 1-9/100000 (Europe); Age of onset: Childhood; OMIM:56
Inheritance:
autosomal recessive
Miscellaneous:
maternal oligohydramnios manifests in infancy (including neonatal lethal) or childhood incidence - 1/16,000 live births HPO:31
polycystic kidney disease 4 with or without polycystic liver disease:
Clinical modifier neonatal death Inheritance autosomal recessive inheritance GeneReviews:24
Penetrance Penetrance for arpkd is complete for those with pkhd1 pathogenic variants; significant intrafamilial variation in disease severity is observed [sweeney & avner 2011, sweeney & avner 2014, sweeney et al 2016]....
Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Anatomical: Nephrological diseases Liver diseases Reproductive diseases
ICD10:
32
33
Orphanet: 58
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NIH Rare Diseases :
52
Autosomal recessive polycystic kidney disease (ARPKD) is a genetic condition that is characterized by the growth of cysts in the kidneys (which lead to kidney failure ) and liver and problems in other organs , such as the blood vessels in the brain and heart. The severity varies from person to person. The signs of ARPKD frequently begin before birth, so it is often called "infantile PKD" but some people do not develop symptoms until later in childhood or even adulthood. Children born with ARPKD often, but not always, develop kidney failure before reaching adulthood; babies with the worst cases die hours or days after birth due to respiratory difficulties or respiratory failure. Liver scarring occurs in all patients. The condition is caused by a mutation in the PKHD1 gene and is inherited in an autosomal recessive manner. Some symptoms of the condition may be controlled by medicines, antibiotics , healthy diet, and growth hormones .
MalaCards based summary : Polycystic Kidney Disease 4 with or Without Polycystic Liver Disease, also known as autosomal recessive polycystic kidney disease, is related to polycystic kidney disease 3 with or without polycystic liver disease and renal-hepatic-pancreatic dysplasia. An important gene associated with Polycystic Kidney Disease 4 with or Without Polycystic Liver Disease is PKHD1 (PKHD1 Ciliary IPT Domain Containing Fibrocystin/Polyductin), and among its related pathways/superpathways are Type II diabetes mellitus and Hedgehog signaling events mediated by Gli proteins. The drugs Ursodeoxycholic acid and Liver Extracts have been mentioned in the context of this disorder. Affiliated tissues include kidney, liver and heart, and related phenotypes are renal insufficiency and micrognathia Disease Ontology : 12 A polycystic kidney disease characterized by the presence of multiple cysts located in the kidney resulting from ciliopathy that disrupts the function of primary cilium, inherited in an autosomal recessive fashion. OMIM : 56 PKD4 is an autosomal recessive polycystic kidney disease (ARPKD) characterized by enlarged, echogenic kidneys with fusiform dilatation of the collecting ducts. Most patients progress to end-stage renal disease (ESRD), but at varying ages. Patients also have liver disease consisting of dilated biliary ducts, congenital hepatic fibrosis (CHF), and portal hypertension (Caroli disease). The most typical disease expression occurs in neonates and includes a history of oligohydramnios, massively enlarged kidneys, and the 'Potter' sequence with pulmonary hypoplasia that leads to respiratory insufficiency and perinatal death in approximately 30% of affected newborns (summary by Hartung and Guay-Woodford, 2014). For a discussion of genetic heterogeneity of polycystic kidney disease, see PKD1 (173900). (263200) UniProtKB/Swiss-Prot : 73 Polycystic kidney disease 4, with or without polycystic liver disease: A severe form of polycystic kidney disease affecting the kidneys and, in some cases, the hepatic biliary tract. The clinical spectrum is widely variable, with most cases presenting during infancy. The fetal phenotypic features classically include enlarged and echogenic kidneys, as well as oligohydramnios secondary to a poor urine output. Up to 50% of the affected neonates die shortly after birth, as a result of severe pulmonary hypoplasia and secondary respiratory insufficiency. In the subset that survives the perinatal period, morbidity and mortality are mainly related to severe systemic hypertension, renal insufficiency, and portal hypertension due to portal-tract fibrosis. PKD4 inheritance is autosomal recessive.
GeneReviews:
NBK1326
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Human phenotypes related to Polycystic Kidney Disease 4 with or Without Polycystic Liver Disease:58 31 (show top 50) (show all 65)
Symptoms via clinical synopsis from OMIM:56Clinical features from OMIM:263200GenomeRNAi Phenotypes related to Polycystic Kidney Disease 4 with or Without Polycystic Liver Disease according to GeneCards Suite gene sharing:26 (show all 20)
MGI Mouse Phenotypes related to Polycystic Kidney Disease 4 with or Without Polycystic Liver Disease:45 (show all 14)
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Drugs for Polycystic Kidney Disease 4 with or Without Polycystic Liver Disease (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):
Interventional clinical trials:
Cochrane evidence based reviews: polycystic kidney, autosomal recessive |
The Foundational Model of Anatomy Ontology organs/tissues related to Polycystic Kidney Disease 4 with or Without Polycystic Liver Disease:19
Kidney
MalaCards organs/tissues related to Polycystic Kidney Disease 4 with or Without Polycystic Liver Disease:40
Kidney,
Liver,
Heart,
Brain,
Lung,
Testes,
Fetal Liver
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Articles related to Polycystic Kidney Disease 4 with or Without Polycystic Liver Disease:(show top 50) (show all 677)
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ClinVar genetic disease variations for Polycystic Kidney Disease 4 with or Without Polycystic Liver Disease:6 (show top 50) (show all 1080)
UniProtKB/Swiss-Prot genetic disease variations for Polycystic Kidney Disease 4 with or Without Polycystic Liver Disease:73 (show top 50) (show all 93)
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Search
GEO
for disease gene expression data for Polycystic Kidney Disease 4 with or Without Polycystic Liver Disease.
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Cellular components related to Polycystic Kidney Disease 4 with or Without Polycystic Liver Disease according to GeneCards Suite gene sharing:
Biological processes related to Polycystic Kidney Disease 4 with or Without Polycystic Liver Disease according to GeneCards Suite gene sharing:(show all 20)
Molecular functions related to Polycystic Kidney Disease 4 with or Without Polycystic Liver Disease according to GeneCards Suite gene sharing:
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