PKD4
MCID: PLY170
MIFTS: 62

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

Categories: Genetic diseases, Liver diseases, Nephrological diseases, Rare diseases, Reproductive diseases

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 57
Autosomal Recessive Polycystic Kidney Disease 12 53 59 29 6 15 73
Arpkd 57 12 24 53 75 55
Polycystic Kidney Disease, Autosomal Recessive 57 24 75
Polycystic Kidney and Hepatic Disease 1 57 12 75
Pkhd1 57 12 75
Polycystic Kidney Disease 4 with or Without Hepatic Disease 57 75
Polycystic Kidney Disease, Infantile, Type I 57 12
Pkd4 57 75
Polycystic Kidney Disease 4, with or Without Polycystic Liver Disease 75
Polycystic Kidney Disease 4, with or Without Hepatic Disease 57
Polycystic Kidney Disease, Autosomal Recessive; Arpkd 57
Kidney, Polycystic, Disease, Autosomal Recessive 40
Polycystic Kidney Disease 3, Autosomal Dominant 73
Polycystic Kidney and Hepatic Disease 1; Pkhd1 57
Infantile Polycystic Kidney Disease Type I 75
Polycystic Kidney Disease, Infantile Type 53
Polycystic Kidney, Autosomal Recessive 44
Pkd3, Formerly 57
Arpkd/chf 24
Ar-Pkd 59
Pkd3 75

Characteristics:

Orphanet epidemiological data:

59
autosomal recessive polycystic kidney disease
Inheritance: Autosomal recessive; Prevalence: 1-9/100000 (Europe); Age of onset: Childhood;

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
maternal oligohydramnios
manifests in infancy (including neonatal lethal) or childhood
incidence - 1/16,000 live births


HPO:

32
polycystic kidney disease 4 with or without polycystic liver disease:
Mortality/Aging neonatal death
Inheritance autosomal recessive inheritance


GeneReviews:

24
Penetrance Penetrance is 100%; significant intrafamilial variation in disease severity is observed [sweeney & avner 2011, sweeney & avner 2014, sweeney et al 2016]...

Classifications:



External Ids:

OMIM 57 263200
Disease Ontology 12 DOID:0110861
ICD10 33 Q61.1
ICD9CM 35 753.14
NCIt 50 C84579
SNOMED-CT 68 28770003
Orphanet 59 ORPHA731
MESH via Orphanet 45 D017044
UMLS via Orphanet 74 C0085548
ICD10 via Orphanet 34 Q61.1

Summaries for Polycystic Kidney Disease 4 with or Without Polycystic Liver...

NIH Rare Diseases : 53 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 caroli disease. An important gene associated with Polycystic Kidney Disease 4 with or Without Polycystic Liver Disease is PKHD1 (PKHD1, Fibrocystin/Polyductin), and among its related pathways/superpathways are Organelle biogenesis and maintenance and Cargo trafficking to the periciliary membrane. The drugs Tolvaptan and Vasopressins have been mentioned in the context of this disorder. Affiliated tissues include kidney, liver and brain, and related phenotypes are respiratory insufficiency and macrotia

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)

UniProtKB/Swiss-Prot : 75 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

Related Diseases for Polycystic Kidney Disease 4 with or Without Polycystic Liver...

Diseases in the Polycystic Kidney Disease 4 with or Without Polycystic Liver Disease family:

Polycystic Kidney Disease 1 with or Without Polycystic Liver Disease Polycystic Kidney Disease 3 with or Without Polycystic Liver Disease
Polycystic Kidney Disease 2 with or Without Polycystic Liver Disease Polycystic Kidney Disease 6 with or Without Polycystic Liver Disease

Diseases related to Polycystic Kidney Disease 4 with or Without Polycystic Liver Disease via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 55)
# Related Disease Score Top Affiliating Genes
1 polycystic kidney disease 3 with or without polycystic liver disease 33.1 PKD1 PKD2 PRKD1
2 caroli disease 32.6 PKD1 PKHD1
3 polycystic liver disease 32.1 PKD1 PKD2 PKHD1 PRKCSH SEC63
4 autosomal dominant polycystic kidney disease 32.1 AVPR2 EGF HNF1B PKD1 PKD2 PKHD1
5 nephronophthisis 31.8 PKD1 PKD2 PKHD1 TMEM67
6 polycystic kidney disease 1 with or without polycystic liver disease 31.7 EGF HNF1B IFT88 PKD1 PKD2 PKHD1
7 polycystic liver disease 1 with or without kidney cysts 31.6 HNF1B PKD1 PKD2 PKHD1 PRKCSH SEC63
8 polycystic kidney disease 2 with or without polycystic liver disease 31.5 HNF1B IFT88 PKD1 PKD2 PKHD1 PRKCSH
9 cystic kidney disease 31.5 AREG EGF HNF1B IFT88 PKD1 PKD2
10 kidney disease 31.1 DZIP1L HNF1B IFT88 PKD1 PKD2 PKHD1
11 polycystic kidney disease 30.8 AVPR2 DZIP1L HNF1B IFT88 PKD1 PKD2
12 congenital hepatic fibrosis 30.4 PKD1 PKHD1 TMEM67
13 liver disease 30.3 PKD1 PKD2 PKHD1 PRKCSH SEC63
14 gillessen-kaesbach-nishimura syndrome 11.5
15 renal-hepatic-pancreatic dysplasia 11.4
16 caroli disease, isolated 11.3
17 oligohydramnios 11.2
18 portal hypertension 11.2
19 perrault syndrome 1 11.1
20 polycystic kidney disease 4 11.1
21 polycystic kidney disease 5 11.1
22 nephronophthisis 9 11.1
23 homocystinuria due to cbs deficiency 11.1
24 dengue hemorrhagic fever 10.9
25 chronic interstitial cystitis 10.9
26 prostate cancer 10.3
27 polycystic kidney disease, infantile severe, with tuberous sclerosis 10.3 PKD1 TSC2
28 lymphatic malformations 10.3 PKD1 PKD2
29 multicystic dysplastic kidney 10.2 PKD1 PKD2
30 adult hepatocellular carcinoma 10.2 EGF TSC2
31 tricuspid valve prolapse 10.2 EGF PIK3C2A
32 urinary system disease 10.2 PKD1 PKD2 PRKD1
33 maturity-onset diabetes of the young, type 4 10.1 HNF1A HNF1B
34 hepatocellular carcinoma 10.1
35 autosomal genetic disease 10.1 HNF1A PKD1 PKD2 PRKD1 TSC2
36 maturity-onset diabetes of the young, type 2 10.0 HNF1A HNF1B
37 joubert syndrome 1 10.0
38 pleuropulmonary blastoma 10.0
39 pulmonary hypertension 10.0
40 glomerulonephritis 10.0
41 congenital hypothyroidism 10.0
42 intracranial aneurysm 10.0
43 nephrotic syndrome 10.0
44 nephrocalcinosis 10.0
45 cholestasis 10.0
46 hypothyroidism 10.0
47 hepatoblastoma 10.0
48 situs inversus 10.0
49 encephalocele 10.0
50 lymphangiomatosis 10.0

Graphical network of the top 20 diseases related to Polycystic Kidney Disease 4 with or Without Polycystic Liver Disease:



Diseases related to Polycystic Kidney Disease 4 with or Without Polycystic Liver Disease

Symptoms & Phenotypes for Polycystic Kidney Disease 4 with or Without Polycystic Liver...

Symptoms via clinical synopsis from OMIM:

57
Cardiovascular Vascular:
hypertension

Abdomen Liver:
hepatomegaly
portal hypertension
hepatic cysts
periportal fibrosis

Abdomen Pancreas:
pancreatic cysts

Genitourinary Kidneys:
renal failure
interstitial fibrosis
enlarged kidneys
cystic kidneys
loss of corticomedullary differentiation
more
Abdomen Gastrointestinal:
esophageal varices

Abdomen Spleen:
splenomegaly

Metabolic Features:
dehydration

Head And Neck Face:
potter facies

Respiratory Lung:
lung hypoplasia

Abdomen Biliary Tract:
bile duct dilation and proliferation


Clinical features from OMIM:

263200

Human phenotypes related to Polycystic Kidney Disease 4 with or Without Polycystic Liver Disease:

59 32 (show all 27)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 respiratory insufficiency 59 32 hallmark (90%) Very frequent (99-80%) HP:0002093
2 macrotia 59 32 hallmark (90%) Very frequent (99-80%) HP:0000400
3 renal insufficiency 59 32 hallmark (90%) Very frequent (99-80%) HP:0000083
4 micrognathia 59 32 hallmark (90%) Very frequent (99-80%) HP:0000347
5 renal hypoplasia/aplasia 59 32 frequent (33%) Frequent (79-30%) HP:0008678
6 depressed nasal ridge 59 32 hallmark (90%) Very frequent (99-80%) HP:0000457
7 pancreatic cysts 59 32 frequent (33%) Frequent (79-30%) HP:0001737
8 multiple renal cysts 59 32 hallmark (90%) Very frequent (99-80%) HP:0005562
9 low-set, posteriorly rotated ears 59 32 hallmark (90%) Very frequent (99-80%) HP:0000368
10 biliary tract abnormality 59 32 frequent (33%) Frequent (79-30%) HP:0001080
11 hepatic cysts 59 32 frequent (33%) Frequent (79-30%) HP:0001407
12 congenital hepatic fibrosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0002612
13 hypoplasia of the ear cartilage 59 32 hallmark (90%) Very frequent (99-80%) HP:0100720
14 splenomegaly 32 HP:0001744
15 hepatomegaly 32 HP:0002240
16 portal hypertension 32 HP:0001409
17 dehydration 32 HP:0001944
18 polycystic kidney dysplasia 32 HP:0000113
19 esophageal varix 32 HP:0002040
20 oligohydramnios 32 HP:0001562
21 enlarged kidney 32 HP:0000105
22 pulmonary hypoplasia 32 HP:0002089
23 renal cyst 32 HP:0000107
24 potter facies 32 HP:0002009
25 tubulointerstitial fibrosis 32 HP:0005576
26 periportal fibrosis 32 HP:0001405
27 absence of renal corticomedullary differentiation 32 HP:0005564

MGI Mouse Phenotypes related to Polycystic Kidney Disease 4 with or Without Polycystic Liver Disease:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.2 AREG AVPR2 CYS1 DZIP1L EGF HNF1A
2 cellular MP:0005384 10.17 HNF1A IFT88 PIK3C2A PKD1 PKD2 PKHD1
3 cardiovascular system MP:0005385 10.11 AREG IFT88 PIK3C2A PKD1 PKD2 PKHD1
4 endocrine/exocrine gland MP:0005379 10.11 AREG CYS1 DZIP1L EGF HNF1A HNF1B
5 digestive/alimentary MP:0005381 10.1 AREG CYS1 DZIP1L EGF HNF1A IFT88
6 homeostasis/metabolism MP:0005376 10.07 AREG AVPR2 CYS1 HNF1A HNF1B IFT88
7 liver/biliary system MP:0005370 9.93 CYS1 DZIP1L HNF1A HNF1B IFT88 PKD1
8 mortality/aging MP:0010768 9.86 AREG AVPR2 CYS1 DZIP1L HNF1A HNF1B
9 renal/urinary system MP:0005367 9.47 AVPR2 CYS1 DZIP1L HNF1A HNF1B IFT88

Drugs & Therapeutics for Polycystic Kidney Disease 4 with or Without Polycystic Liver...

Drugs for Polycystic Kidney Disease 4 with or Without Polycystic Liver Disease (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 10)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Tolvaptan Approved Phase 4 150683-30-0 216237
2 Vasopressins Phase 4
3 Arginine Vasopressin Phase 4
4 Hormones Phase 4
5 Natriuretic Agents Phase 4
6
Pancrelipase Approved, Investigational 53608-75-6
7 Protein C Inhibitor
8 Alpha 1-Antitrypsin
9 Liver Extracts
10 pancreatin

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Subacute Effect of Tolvaptan on Total Kidney Volume in Adult Patients With Autosomal Dominant Polycystic Kidney Disease Recruiting NCT03596957 Phase 4 Tolvaptan
2 A Safety, Pharmacokinetic, Single Ascending Dose Study of Tesevatinib in Pediatric Subjects With Autosomal Recessive Polycystic Kidney Disease (ARPKD) Recruiting NCT03096080 Phase 1 Tesevatinib
3 Shear Wave Sonoelastography in Pediatric Liver Fibrosis Completed NCT02372682
4 Clinical and Molecular Investigations Into Ciliopathies Completed NCT00068224
5 UAB HRFD Core Center: Core A: The Hepato/Renal Fibrocystic Diseases Translational Resource Recruiting NCT01401998

Search NIH Clinical Center for Polycystic Kidney Disease 4 with or Without Polycystic Liver Disease

Cochrane evidence based reviews: polycystic kidney, autosomal recessive

Genetic Tests for Polycystic Kidney Disease 4 with or Without Polycystic Liver...

Genetic tests related to Polycystic Kidney Disease 4 with or Without Polycystic Liver Disease:

# Genetic test Affiliating Genes
1 Autosomal Recessive Polycystic Kidney Disease 29 PKHD1

Anatomical Context for Polycystic Kidney Disease 4 with or Without Polycystic Liver...

MalaCards organs/tissues related to Polycystic Kidney Disease 4 with or Without Polycystic Liver Disease:

41
Kidney, Liver, Brain, Heart, Lung, Bone, Prostate

The Foundational Model of Anatomy Ontology organs/tissues related to Polycystic Kidney Disease 4 with or Without Polycystic Liver Disease:

19
The Kidney

Publications for Polycystic Kidney Disease 4 with or Without Polycystic Liver...

Articles related to Polycystic Kidney Disease 4 with or Without Polycystic Liver Disease:

(show top 50) (show all 263)
# Title Authors Year
1
Prenatal MR imaging features of Caroli syndrome in association with autosomal recessive polycystic kidney disease. ( 30510609 )
2019
2
Gastrostomy Tube Insertion in Pediatric Patients With Autosomal Recessive Polycystic Kidney Disease (ARPKD): Current Practice. ( 29915780 )
2018
3
A teenage patient with autosomal recessive polycystic kidney disease, a splenorenal shunt, and congenital hepatic fibrosis: a case report. ( 30199558 )
2018
4
Ruptured intracranial aneurysm in a patient with autosomal recessive polycystic kidney disease. ( 30497224 )
2018
5
Autosomal recessive polycystic kidney disease (ARPKD) in a Nigerian newborn: a case report. ( 30455801 )
2018
6
Atmin modulates Pkhd1 expression and may mediate Autosomal Recessive Polycystic Kidney Disease (ARPKD) through altered non-canonical Wnt/Planar Cell Polarity (PCP) signalling. ( 30414501 )
2018
7
Quantitative magnetic resonance imaging assessments of autosomal recessive polycystic kidney disease progression and response to therapy in an animal model. ( 29538364 )
2018
8
Long-term outcome of transjugular intrahepatic portosystemic shunt for portal hypertension in autosomal recessive polycystic kidney disease. ( 29622386 )
2018
9
Risk Factors for Early Dialysis Dependency in Autosomal Recessive Polycystic Kidney Disease. ( 29753540 )
2018
10
Autosomal recessive polycystic kidney disease prenatally diagnosed in a fetus with unreported paternal inherited PKHD1 mutation. ( 30017326 )
2018
11
Beneficial effect of combined treatment with octreotide and pasireotide in PCK rats, an orthologous model of human autosomal recessive polycystic kidney disease. ( 28542433 )
2017
12
Risk Factors for Neurocognitive Functioning in Children with Autosomal Recessive Polycystic Kidney Disease. ( 28555180 )
2017
13
A Challenging Case of Hepatoblastoma Concomitant with Autosomal Recessive Polycystic Kidney Disease and Caroli Syndrome-Review of the Literature. ( 28638817 )
2017
14
Disorders of fatty acid oxidation and autosomal recessive polycystic kidney disease-different clinical entities and comparable perinatal renal abnormalities. ( 28083701 )
2017
15
Renal lymphangiomatosis, a rare differential diagnosis for autosomal recessive polycystic kidney disease in pediatric patients. ( 28228882 )
2017
16
Mutations in DZIP1L, which encodes a ciliary-transition-zone protein, cause autosomal recessive polycystic kidney disease. ( 28530676 )
2017
17
Autosomal Recessive Polycystic Kidney Disease. ( 28815206 )
2017
18
Prenatal Diagnosis of Caroli Disease Associated With Autosomal Recessive Polycystic Kidney Disease by 3-D Ultrasound and Magnetic Resonance Imaging. ( 28669735 )
2017
19
Aberrant Smad3 phosphoisoforms in cyst-lining epithelial cells in the cpk mouse, a model of autosomal recessive polycystic kidney disease. ( 28877884 )
2017
20
Prenatal ultrasound, genotype, and outcome in a large cohort of prenatally affected patients with autosomal-recessive polycystic kidney disease and other hereditary cystic kidney diseases. ( 28283827 )
2017
21
Recent Progress of the ARegPKD Registry Study on Autosomal Recessive Polycystic Kidney Disease. ( 28296980 )
2017
22
Design and Implementation of the Hepatorenal Fibrocystic Disease Core Center Clinical Database: A Centralized Resource for Characterizing Autosomal Recessive Polycystic Kidney Disease and Other Hepatorenal Fibrocystic Diseases. ( 28473971 )
2017
23
Diagnosis and Management of Hepatobiliary Complications in Autosomal Recessive Polycystic Kidney Disease. ( 28611971 )
2017
24
Extracranial Aneurysms in 2 Patients with Autosomal Recessive Polycystic Kidney Disease. ( 28612004 )
2017
25
Tesevatinib ameliorates progression of polycystic kidney disease in rodent models of autosomal recessive polycystic kidney disease. ( 28729967 )
2017
26
Genetics of Autosomal Recessive Polycystic Kidney Disease and Its Differential Diagnoses. ( 29479522 )
2017
27
Correction: An Empirical Biomarker-Based Calculator for Cystic Index in a Model of Autosomal Recessive Polycystic Kidney Disease-The Nieto-Narayan Formula. ( 27936068 )
2016
28
Growth in Children with Autosomal Recessive Polycystic Kidney Disease in the CKiD Cohort Study. ( 27559537 )
2016
29
Initial evaluation of hepatic T1 relaxation time as an imaging marker of liver disease associated with autosomal recessive polycystic kidney disease (ARPKD). ( 26608869 )
2016
30
Evidence for a "Pathogenic Triumvirate" in Congenital Hepatic Fibrosis in Autosomal Recessive Polycystic Kidney Disease. ( 27891514 )
2016
31
Autosomal recessive polycystic kidney disease diagnosed in a 39 year-old women with kidney failure and cramps. ( 26976269 )
2016
32
Kidney Versus Combined Kidney and Liver Transplantation in Young People With Autosomal Recessive Polycystic Kidney Disease: Data From the European Society for Pediatric Nephrology/European Renal Association-European Dialysis and Transplant (ESPN/ERA-EDTA) Registry. ( 27555106 )
2016
33
Bioinformatic tools to determine the pathogenicity of a missense mutation in PKHD1 in autosomal recessive polycystic kidney disease. ( 27595491 )
2016
34
Next-generation sequencing for molecular diagnosis of autosomal recessive polycystic kidney disease. ( 27401137 )
2016
35
An Empirical Biomarker-Based Calculator for Cystic Index in a Model of Autosomal Recessive Polycystic Kidney Disease-The Nieto-Narayan Formula. ( 27695033 )
2016
36
Kidney Disease Progression in Autosomal Recessive Polycystic Kidney Disease. ( 26831744 )
2016
37
High Resolution Ultrasonography for Assessment of Renal Cysts in the PCK Rat Model of Autosomal Recessive Polycystic Kidney Disease. ( 26981631 )
2016
38
Laparoscopic-assisted retroperitoneal nephrectomy in autosomal recessive polycystic kidney disease. ( 26474782 )
2015
39
Intragenic duplication in the PHKD1 gene in autosomal recessive polycystic kidney disease. ( 26502924 )
2015
40
Molecular genetic analysis of PKHD1 by next-generation sequencing in Czech families with autosomal recessive polycystic kidney disease. ( 26695994 )
2015
41
Feeding soy protein isolate and oils rich in omega-3 polyunsaturated fatty acids affected mineral balance, but not bone in a rat model of autosomal recessive polycystic kidney disease. ( 25886405 )
2015
42
A labor and cost effective next generation sequencing of PKHD1 in autosomal recessive polycystic kidney disease patients. ( 25701400 )
2015
43
Pregnancy in autosomal recessive polycystic kidney disease. ( 25214022 )
2015
44
Neonatal ascites in autosomal recessive polycystic kidney disease (ARPKD). ( 25250579 )
2015
45
Autosomal recessive polycystic kidney disease with Caroli syndrome. ( 25447106 )
2015
46
Clinical manifestations of autosomal recessive polycystic kidney disease. ( 25689455 )
2015
47
Magnetic resonance microscopy of renal and biliary abnormalities in excised tissues from a mouse model of autosomal recessive polycystic kidney disease. ( 26320214 )
2015
48
Early bilateral nephrectomy in infantile autosomal recessive polycystic kidney disease. ( 26670891 )
2015
49
Posterior reversible encephalopathy syndrome in a uremic patient with autosomal recessive polycystic kidney disease. ( 28509106 )
2015
50
Transplantation in autosomal recessive polycystic kidney disease: liver and/or kidney? ( 25115876 )
2015

Variations for Polycystic Kidney Disease 4 with or Without Polycystic Liver...

UniProtKB/Swiss-Prot genetic disease variations for Polycystic Kidney Disease 4 with or Without Polycystic Liver Disease:

75 (show top 50) (show all 93)
# Symbol AA change Variation ID SNP ID
1 PKHD1 p.Thr36Met VAR_014039 rs137852944
2 PKHD1 p.Ile222Val VAR_014040 rs369925690
3 PKHD1 p.Phe253Leu VAR_014041 rs775254013
4 PKHD1 p.Arg760His VAR_014044 rs745770404
5 PKHD1 p.Gly1122Ser VAR_014046
6 PKHD1 p.Cys1249Trp VAR_014048 rs748540413
7 PKHD1 p.Leu1407Arg VAR_014050
8 PKHD1 p.Ser1664Phe VAR_014052 rs28937907
9 PKHD1 p.Val1741Met VAR_014053 rs137852946
10 PKHD1 p.Gln1917Arg VAR_014054
11 PKHD1 p.Glu1995Gly VAR_014055
12 PKHD1 p.Ile2331Lys VAR_014056 rs200179145
13 PKHD1 p.Ile2957Thr VAR_014058 rs760222236
14 PKHD1 p.Ser3018Phe VAR_014059 rs137852945
15 PKHD1 p.Ile3553Thr VAR_014061 rs137852948
16 PKHD1 p.Ala17Val VAR_018520 rs755654557
17 PKHD1 p.Gly223Ser VAR_018522 rs749454235
18 PKHD1 p.Ile307Thr VAR_018523
19 PKHD1 p.Gly326Val VAR_018524 rs778329699
20 PKHD1 p.Ile473Ser VAR_018527
21 PKHD1 p.Tyr486His VAR_018528
22 PKHD1 p.Arg496Pro VAR_018530
23 PKHD1 p.Trp656Cys VAR_018532
24 PKHD1 p.Asp703Asn VAR_018533
25 PKHD1 p.Pro739Leu VAR_018535 rs758352210
26 PKHD1 p.Pro805Leu VAR_018537 rs199531851
27 PKHD1 p.Thr899Pro VAR_018539
28 PKHD1 p.Met997Lys VAR_018540
29 PKHD1 p.Ala1030Glu VAR_018541
30 PKHD1 p.Gly1123Ser VAR_018542 rs142107837
31 PKHD1 p.Pro1389Thr VAR_018546
32 PKHD1 p.Cys1472Tyr VAR_018547
33 PKHD1 p.Pro1486Leu VAR_018548 rs142152093
34 PKHD1 p.Ser1584Ile VAR_018549
35 PKHD1 p.Thr1781Ile VAR_018551
36 PKHD1 p.Val1789Leu VAR_018552
37 PKHD1 p.Ser1833Leu VAR_018553 rs201105958
38 PKHD1 p.Tyr1838Cys VAR_018554 rs777999875
39 PKHD1 p.Ser1867Asn VAR_018555
40 PKHD1 p.Asp1942Gly VAR_018557 rs121084608
41 PKHD1 p.Gly1971Asp VAR_018558 rs180675584
42 PKHD1 p.Ile1998Thr VAR_018559
43 PKHD1 p.Val2032Leu VAR_018560
44 PKHD1 p.Leu2134Pro VAR_018561
45 PKHD1 p.Ile2303Phe VAR_018562 rs751084512
46 PKHD1 p.Cys2422Gly VAR_018563 rs201881567
47 PKHD1 p.Cys2688Phe VAR_018566
48 PKHD1 p.Asp2761Tyr VAR_018567
49 PKHD1 p.Leu2772Pro VAR_018568
50 PKHD1 p.Tyr2863Cys VAR_018570

ClinVar genetic disease variations for Polycystic Kidney Disease 4 with or Without Polycystic Liver Disease:

6 (show top 50) (show all 1321)
# Gene Variation Type Significance SNP ID Assembly Location
1 PKHD1 NM_138694.3(PKHD1): c.107C> T (p.Thr36Met) single nucleotide variant Pathogenic rs137852944 GRCh37 Chromosome 6, 51947999: 51947999
2 PKHD1 NM_138694.3(PKHD1): c.107C> T (p.Thr36Met) single nucleotide variant Pathogenic rs137852944 GRCh38 Chromosome 6, 52083201: 52083201
3 PKHD1 NM_138694.3(PKHD1): c.4991C> T (p.Ser1664Phe) single nucleotide variant Pathogenic rs28937907 GRCh37 Chromosome 6, 51889617: 51889617
4 PKHD1 NM_138694.3(PKHD1): c.4991C> T (p.Ser1664Phe) single nucleotide variant Pathogenic rs28937907 GRCh38 Chromosome 6, 52024819: 52024819
5 PKHD1 NM_138694.3(PKHD1): c.9053C> T (p.Ser3018Phe) single nucleotide variant Pathogenic rs137852945 GRCh37 Chromosome 6, 51613361: 51613361
6 PKHD1 NM_138694.3(PKHD1): c.9053C> T (p.Ser3018Phe) single nucleotide variant Pathogenic rs137852945 GRCh38 Chromosome 6, 51748563: 51748563
7 PKHD1 NM_138694.3(PKHD1): c.5221G> A (p.Val1741Met) single nucleotide variant Uncertain significance rs137852946 GRCh37 Chromosome 6, 51889387: 51889387
8 PKHD1 NM_138694.3(PKHD1): c.5221G> A (p.Val1741Met) single nucleotide variant Uncertain significance rs137852946 GRCh38 Chromosome 6, 52024589: 52024589
9 PKHD1 NM_138694.3(PKHD1): c.8011C> T (p.Arg2671Ter) single nucleotide variant Pathogenic rs137852947 GRCh37 Chromosome 6, 51712669: 51712669
10 PKHD1 NM_138694.3(PKHD1): c.8011C> T (p.Arg2671Ter) single nucleotide variant Pathogenic rs137852947 GRCh38 Chromosome 6, 51847871: 51847871
11 PKHD1 NM_138694.3(PKHD1): c.10658T> C (p.Ile3553Thr) single nucleotide variant Uncertain significance rs137852948 GRCh37 Chromosome 6, 51524266: 51524266
12 PKHD1 NM_138694.3(PKHD1): c.10658T> C (p.Ile3553Thr) single nucleotide variant Uncertain significance rs137852948 GRCh38 Chromosome 6, 51659468: 51659468
13 PKHD1 NM_138694.3(PKHD1): c.1486C> T (p.Arg496Ter) single nucleotide variant Pathogenic rs137852949 GRCh37 Chromosome 6, 51923147: 51923147
14 PKHD1 NM_138694.3(PKHD1): c.1486C> T (p.Arg496Ter) single nucleotide variant Pathogenic rs137852949 GRCh38 Chromosome 6, 52058349: 52058349
15 PKHD1 NM_138694.3(PKHD1): c.10412T> G (p.Val3471Gly) single nucleotide variant Pathogenic rs137852950 GRCh37 Chromosome 6, 51524512: 51524512
16 PKHD1 NM_138694.3(PKHD1): c.10412T> G (p.Val3471Gly) single nucleotide variant Pathogenic rs137852950 GRCh38 Chromosome 6, 51659714: 51659714
17 PKHD1 NM_138694.3(PKHD1): c.1545C> T (p.Phe515=) single nucleotide variant Likely benign rs267601071 GRCh37 Chromosome 6, 51921745: 51921745
18 PKHD1 NM_138694.3(PKHD1): c.1545C> T (p.Phe515=) single nucleotide variant Likely benign rs267601071 GRCh38 Chromosome 6, 52056947: 52056947
19 PKHD1 NM_138694.3(PKHD1): c.1545C> T (p.Phe515=) single nucleotide variant Likely benign rs267601071 NCBI36 Chromosome 6, 52029704: 52029704
20 PKHD1 NM_138694.3(PKHD1): c.10031T> G (p.Leu3344Ter) single nucleotide variant Pathogenic/Likely pathogenic rs398124475 GRCh37 Chromosome 6, 51609308: 51609308
21 PKHD1 NM_138694.3(PKHD1): c.10031T> G (p.Leu3344Ter) single nucleotide variant Pathogenic/Likely pathogenic rs398124475 GRCh38 Chromosome 6, 51744510: 51744510
22 PKHD1 NM_138694.3(PKHD1): c.10521C> T (p.His3507=) single nucleotide variant Benign/Likely benign rs34460237 GRCh37 Chromosome 6, 51524403: 51524403
23 PKHD1 NM_138694.3(PKHD1): c.10521C> T (p.His3507=) single nucleotide variant Benign/Likely benign rs34460237 GRCh38 Chromosome 6, 51659605: 51659605
24 PKHD1 NM_138694.3(PKHD1): c.10585G> C (p.Glu3529Gln) single nucleotide variant Benign/Likely benign rs145184792 GRCh37 Chromosome 6, 51524339: 51524339
25 PKHD1 NM_138694.3(PKHD1): c.10585G> C (p.Glu3529Gln) single nucleotide variant Benign/Likely benign rs145184792 GRCh38 Chromosome 6, 51659541: 51659541
26 PKHD1 NM_138694.3(PKHD1): c.10909C> T (p.Arg3637Cys) single nucleotide variant Uncertain significance rs141349745 GRCh37 Chromosome 6, 51524015: 51524015
27 PKHD1 NM_138694.3(PKHD1): c.10909C> T (p.Arg3637Cys) single nucleotide variant Uncertain significance rs141349745 GRCh38 Chromosome 6, 51659217: 51659217
28 PKHD1 NM_138694.3(PKHD1): c.11509G> A (p.Val3837Ile) single nucleotide variant Benign/Likely benign rs9474034 GRCh37 Chromosome 6, 51497519: 51497519
29 PKHD1 NM_138694.3(PKHD1): c.11509G> A (p.Val3837Ile) single nucleotide variant Benign/Likely benign rs9474034 GRCh38 Chromosome 6, 51632721: 51632721
30 PKHD1 NM_138694.3(PKHD1): c.11525G> T (p.Arg3842Leu) single nucleotide variant Benign rs76572975 GRCh37 Chromosome 6, 51497503: 51497503
31 PKHD1 NM_138694.3(PKHD1): c.11525G> T (p.Arg3842Leu) single nucleotide variant Benign rs76572975 GRCh38 Chromosome 6, 51632705: 51632705
32 PKHD1 NM_138694.3(PKHD1): c.11696A> G (p.Gln3899Arg) single nucleotide variant Benign rs4715227 GRCh37 Chromosome 6, 51491884: 51491884
33 PKHD1 NM_138694.3(PKHD1): c.11696A> G (p.Gln3899Arg) single nucleotide variant Benign rs4715227 GRCh38 Chromosome 6, 51627086: 51627086
34 PKHD1 NM_138694.3(PKHD1): c.11714T> A (p.Ile3905Asn) single nucleotide variant Benign/Likely benign rs2661488 GRCh37 Chromosome 6, 51491866: 51491866
35 PKHD1 NM_138694.3(PKHD1): c.11714T> A (p.Ile3905Asn) single nucleotide variant Benign/Likely benign rs2661488 GRCh38 Chromosome 6, 51627068: 51627068
36 PKHD1 NM_138694.3(PKHD1): c.1185T> C (p.Asp395=) single nucleotide variant Benign rs1896976 GRCh37 Chromosome 6, 51924774: 51924774
37 PKHD1 NM_138694.3(PKHD1): c.1185T> C (p.Asp395=) single nucleotide variant Benign rs1896976 GRCh38 Chromosome 6, 52059976: 52059976
38 PKHD1 NM_138694.3(PKHD1): c.11878G> A (p.Val3960Ile) single nucleotide variant Benign rs34548196 GRCh37 Chromosome 6, 51484226: 51484226
39 PKHD1 NM_138694.3(PKHD1): c.11878G> A (p.Val3960Ile) single nucleotide variant Benign rs34548196 GRCh38 Chromosome 6, 51619428: 51619428
40 PKHD1 NM_138694.3(PKHD1): c.12143A> G (p.Gln4048Arg) single nucleotide variant Benign rs9381994 GRCh37 Chromosome 6, 51483961: 51483961
41 PKHD1 NM_138694.3(PKHD1): c.12143A> G (p.Gln4048Arg) single nucleotide variant Benign rs9381994 GRCh38 Chromosome 6, 51619163: 51619163
42 PKHD1 NM_138694.3(PKHD1): c.1234-10T> A single nucleotide variant Benign/Likely benign rs4715272 GRCh37 Chromosome 6, 51923409: 51923409
43 PKHD1 NM_138694.3(PKHD1): c.1234-10T> A single nucleotide variant Benign/Likely benign rs4715272 GRCh38 Chromosome 6, 52058611: 52058611
44 PKHD1 NM_138694.3(PKHD1): c.1587T> C (p.Asn529=) single nucleotide variant Benign/Likely benign rs62406036 GRCh37 Chromosome 6, 51921703: 51921703
45 PKHD1 NM_138694.3(PKHD1): c.1587T> C (p.Asn529=) single nucleotide variant Benign/Likely benign rs62406036 GRCh38 Chromosome 6, 52056905: 52056905
46 PKHD1 NM_138694.3(PKHD1): c.1602+1G> A single nucleotide variant Pathogenic rs398124476 GRCh37 Chromosome 6, 51921687: 51921687
47 PKHD1 NM_138694.3(PKHD1): c.1602+1G> A single nucleotide variant Pathogenic rs398124476 GRCh38 Chromosome 6, 52056889: 52056889
48 PKHD1 NM_138694.3(PKHD1): c.1694-1G> A single nucleotide variant Pathogenic rs398124477 GRCh37 Chromosome 6, 51920528: 51920528
49 PKHD1 NM_138694.3(PKHD1): c.1694-1G> A single nucleotide variant Pathogenic rs398124477 GRCh38 Chromosome 6, 52055730: 52055730
50 PKHD1 NM_138694.3(PKHD1): c.1736C> T (p.Thr579Met) single nucleotide variant Benign rs45500692 GRCh37 Chromosome 6, 51920485: 51920485

Expression for Polycystic Kidney Disease 4 with or Without Polycystic Liver...

Search GEO for disease gene expression data for Polycystic Kidney Disease 4 with or Without Polycystic Liver Disease.

Pathways for Polycystic Kidney Disease 4 with or Without Polycystic Liver...

Pathways related to Polycystic Kidney Disease 4 with or Without Polycystic Liver Disease according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.75 CYS1 IFT88 PKD1 PKD2 TMEM67
2
Show member pathways
11.36 CYS1 PKD1 PKD2
3
Show member pathways
11.11 HNF1A HNF1B PIK3C2A

GO Terms for Polycystic Kidney Disease 4 with or Without Polycystic Liver...

Cellular components related to Polycystic Kidney Disease 4 with or Without Polycystic Liver Disease according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cell projection GO:0042995 9.87 CYS1 DZIP1L IFT88 PKD1 PKD2 PKHD1
2 ciliary basal body GO:0036064 9.56 DZIP1L IFT88 PKD2 PKHD1
3 motile cilium GO:0031514 9.54 IFT88 PKD1 PKD2
4 ciliary membrane GO:0060170 9.26 CYS1 PKD1 PKD2 TMEM67
5 cilium GO:0005929 9.17 CYS1 DZIP1L IFT88 PKD1 PKD2 PKHD1
6 polycystin complex GO:0002133 9.16 PKD1 PKD2

Biological processes related to Polycystic Kidney Disease 4 with or Without Polycystic Liver Disease according to GeneCards Suite gene sharing:

(show all 19)
# Name GO ID Score Top Affiliating Genes
1 cilium assembly GO:0060271 9.81 DZIP1L IFT88 PKHD1 TMEM67
2 membrane organization GO:0061024 9.76 AVPR2 EGF PIK3C2A
3 kidney development GO:0001822 9.72 HNF1B IFT88 PKD1 PKD2 PKHD1
4 epidermal growth factor receptor signaling pathway GO:0007173 9.65 AREG EGF PIK3C2A
5 branching morphogenesis of an epithelial tube GO:0048754 9.61 EGF HNF1B PKD1
6 mammary gland alveolus development GO:0060749 9.58 AREG EGF
7 detection of mechanical stimulus GO:0050982 9.57 PKD1 PKD2
8 placenta blood vessel development GO:0060674 9.56 PKD1 PKD2
9 cytoplasmic sequestering of transcription factor GO:0042994 9.55 PKD1 PKD2
10 positive regulation of transcription initiation from RNA polymerase II promoter GO:0060261 9.54 HNF1A HNF1B
11 nitrogen compound metabolic process GO:0006807 9.54 PKD1 PRKCSH SEC63
12 regulation of calcium ion import GO:0090279 9.52 EGF PKD2
13 obsolete positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle GO:0031659 9.49 PKD1 PKD2
14 metanephric ascending thin limb development GO:0072218 9.46 PKD1 PKD2
15 mesonephric tubule development GO:0072164 9.43 HNF1B PKD1 PKD2
16 regulation of pronephros size GO:0035565 9.4 HNF1A HNF1B
17 mesonephric duct development GO:0072177 9.33 HNF1B PKD1 PKD2
18 renal system development GO:0072001 9.26 PKD1 PKD2 PRKCSH SEC63
19 liver development GO:0001889 9.1 HNF1A HNF1B PKD1 PKD2 PRKCSH SEC63

Molecular functions related to Polycystic Kidney Disease 4 with or Without Polycystic Liver Disease according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protein binding GO:0005515 9.58 AREG AVPR2 CYS1 DZIP1L EGF HNF1A
2 ion channel binding GO:0044325 9.13 PKD1 PKD2 PRKCSH

Sources for Polycystic Kidney Disease 4 with or Without Polycystic Liver...

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
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62 PubMed
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69 SNOMED-CT via HPO
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74 UMLS via Orphanet
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