Polycystic Kidney Disease 4 with or Without Polycystic Liver Disease (PKD4)

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Disease Ontology 12 DOID:0110861 OMIM® 57 263200 OMIM Phenotypic Series 57 PS173900 ICD9CM 34 753.14 MeSH 44 D016767 D017044 NCIt 50 C84579 SNOMED-CT 67 28770003 ICD10 32 Q61.1

MESH via Orphanet 45 D017044 ICD10 via Orphanet 33 Q61.1 UMLS via Orphanet 71 C0085548 Orphanet 58 ORPHA731 MedGen 41 C0009714 C0085548 SNOMED-CT via HPO 68 109843000 128601007 14350001000004108 14669001 15993004 16294009 17173007 18165001 197494007 197927001 22542007 236423003 24184005 24814002 258211005 267026004 276506001 276617005 28670008 300444006 302215000 312104005 31258000 31515003 32958008 34095006 34713006 34742003 36760000 38341003 386806002 389026000 409622000 415116008 42399005 433146000 444896005 445144002 45024009 52675005 54137008 58381000 59566000 59576002 66972006 699014000 70179006 718403007 72000004 74474003 78164000 79607001 80423007 80515008 80825009 80954004 82403002 82525005 83128009 85057007 89627008 95515009 more UMLS 70 C0085548 C3887964

GARD : ²⁰ 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 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 Organelle biogenesis and maintenance and Type II diabetes mellitus. The drugs Tolvaptan and Vasopressins have been mentioned in the context of this disorder. Affiliated tissues include kidney, liver and lung, and related phenotypes are hypertension and polycystic kidney dysplasia

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® : ⁵⁷ 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) (Updated 20-May-2021)

UniProtKB/Swiss-Prot : ⁷² 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

Clinical features from OMIM®:

263200 (Updated 20-May-2021)

#	Description	GenomeRNAi Source Accession	Score	Top Affiliating Genes
1	Decreased cell migration	GR00055-A-3	8.32	PKD1

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