MCID: PLY170
MIFTS: 58

Polycystic Kidney Disease 4 with or Without Polycystic Liver Disease

Categories: Genetic diseases, Rare diseases, Nephrological diseases, Reproductive diseases, Liver 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 Hepatic Disease 57
Polycystic Kidney Disease, Autosomal Recessive; Arpkd 57
Kidney, Polycystic, Disease, Autosomal Recessive 40
Kidney, Polycystic, Disease, Autosomal Dominant 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
Polycystic Kidney, Autosomal Dominant 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 Q61.2
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 polycystic kidney disease 1 with or without polycystic liver 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 is Type II diabetes mellitus. The drugs Pancrelipase and Alpha 1-Antitrypsin have been mentioned in the context of this disorder. Affiliated tissues include kidney, liver and brain, and related phenotypes are renal insufficiency and micrognathia

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

(show all 25)
# Related Disease Score Top Affiliating Genes
1 polycystic kidney disease 3 with or without polycystic liver disease 33.3 PKD1 PKD2 PKDREJ PRKD1
2 polycystic kidney disease 1 with or without polycystic liver disease 31.4 EGF PKD1 PKD2 PKDREJ PKHD1 PRKCSH
3 autosomal dominant polycystic kidney disease 31.3 AVPR2 EGF HNF1B PKD1 PKD2 PKDREJ
4 congenital hepatic fibrosis 31.1 PKD1 PKHD1 TMEM67
5 polycystic kidney disease 30.4 DZIP1L IFT88 PKD1 PKD2 PKDREJ PKHD1
6 kidney disease 29.4 DZIP1L HNF1B IFT88 PKD1 PKD2 PKDREJ
7 gillessen-kaesbach-nishimura syndrome 11.3
8 polycystic kidney disease 4 10.9
9 polycystic kidney disease, infantile severe, with tuberous sclerosis 10.8 PKD1 TSC2
10 dengue hemorrhagic fever 10.8
11 chronic interstitial cystitis 10.8
12 lymphatic malformations 10.7 PKD1 PKD2
13 multicystic dysplastic kidney 10.7 PKD1 PKD2
14 adult hepatocellular carcinoma 10.7 EGF TSC2
15 tricuspid valve prolapse 10.5 EGF PIK3C2A PKDREJ
16 orofaciodigital syndrome i 10.4 IFT88 PKDREJ
17 nephronophthisis 10.4 PKD1 PKD2 PKHD1 TMEM67
18 hepatitis 10.3
19 caroli disease 10.3 PKD1 PKHD1
20 meckel syndrome, type 1 10.2 IFT88 PKDREJ TMEM67
21 polycystic liver disease 10.1 PKD1 PKD2 PKDREJ PKHD1 PRKCSH SEC63
22 autosomal genetic disease 10.0 PKD1 PKD2 PKDREJ PKHD1 PRKCSH PRKD1
23 polycystic liver disease 1 with or without kidney cysts 10.0 HNF1B PKD1 PKD2 PKHD1 PRKCSH SEC63
24 cystic kidney disease 9.7 EGF HNF1B IFT88 PKD1 PKD2 PKHD1
25 polycystic kidney disease 2 with or without polycystic liver disease 9.6 HNF1B IFT88 PKD1 PKD2 PKDREJ PKHD1

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
increased echogenicity of entire parenchyma
more
Abdomen Gastrointestinal:
esophageal varices

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

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 cellular MP:0005384 10.21 PIK3C2A PKD1 PKD2 PKHD1 PLXNC1 PRKCSH
2 growth/size/body region MP:0005378 10.17 HNF1A HNF1B IFT88 PIK3C2A PKD1 PKD2
3 cardiovascular system MP:0005385 10.11 PRKD1 TMEM67 TSC2 AREG IFT88 PIK3C2A
4 endocrine/exocrine gland MP:0005379 10.07 AREG DZIP1L EGF HNF1A HNF1B IFT88
5 digestive/alimentary MP:0005381 10.06 AREG DZIP1L EGF HNF1A IFT88 PKD1
6 homeostasis/metabolism MP:0005376 10.03 AREG AVPR2 HNF1A HNF1B IFT88 PIK3C2A
7 liver/biliary system MP:0005370 9.9 HNF1B IFT88 PKD1 PKD2 PKHD1 PRKCSH
8 mortality/aging MP:0010768 9.83 AREG AVPR2 DZIP1L HNF1A HNF1B IFT88
9 renal/urinary system MP:0005367 9.44 AVPR2 DZIP1L HNF1A HNF1B IFT88 PIK3C2A

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):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Pancrelipase Approved, Investigational 53608-75-6
2 Alpha 1-Antitrypsin
3 Liver Extracts
4 pancreatin
5 Protein C Inhibitor

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 A Safety, Pharmacokinetic, Single Ascending Dose Study of Tesevatinib in Pediatric Subjects With Autosomal Recessive Polycystic Kidney Disease (ARPKD) Recruiting NCT03096080 Phase 1 Tesevatinib
2 Shear Wave Sonoelastography in Pediatric Liver Fibrosis Completed NCT02372682
3 UAB HRFD Core Center: Core A: The Hepato/Renal Fibrocystic Diseases Translational Resource Recruiting NCT01401998
4 Clinical and Molecular Investigations Into Ciliopathies Active, not recruiting NCT00068224

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

Cochrane evidence based reviews: polycystic kidney, autosomal dominant

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, Testes, Bone

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 126)
# Title Authors Year
1
Gastrostomy Tube Insertion in Pediatric Patients With Autosomal Recessive Polycystic Kidney Disease (ARPKD): Current Practice. ( 29915780 )
2018
2
Beneficial effect of combined treatment with octreotide and pasireotide in PCK rats, an orthologous model of human autosomal recessive polycystic kidney disease. ( 28542433 )
2017
3
Risk Factors for Neurocognitive Functioning in Children with Autosomal Recessive Polycystic Kidney Disease. ( 28555180 )
2017
4
A Challenging Case of Hepatoblastoma Concomitant with Autosomal Recessive Polycystic Kidney Disease and Caroli Syndrome-Review of the Literature. ( 28638817 )
2017
5
Disorders of fatty acid oxidation and autosomal recessive polycystic kidney disease-different clinical entities and comparable perinatal renal abnormalities. ( 28083701 )
2017
6
Renal lymphangiomatosis, a rare differential diagnosis for autosomal recessive polycystic kidney disease in pediatric patients. ( 28228882 )
2017
7
Mutations in DZIP1L, which encodes a ciliary-transition-zone protein, cause autosomal recessive polycystic kidney disease. ( 28530676 )
2017
8
Autosomal Recessive Polycystic Kidney Disease. ( 28815206 )
2017
9
Prenatal Diagnosis of Caroli Disease Associated With Autosomal Recessive Polycystic Kidney Disease by 3-D Ultrasound and Magnetic Resonance Imaging. ( 28669735 )
2017
10
Aberrant Smad3 phosphoisoforms in cyst-lining epithelial cells in the cpk mouse, a model of autosomal recessive polycystic kidney disease. ( 28877884 )
2017
11
Correction: An Empirical Biomarker-Based Calculator for Cystic Index in a Model of Autosomal Recessive Polycystic Kidney Disease-The Nieto-Narayan Formula. ( 27936068 )
2016
12
Growth in Children with Autosomal Recessive Polycystic Kidney Disease in the CKiD Cohort Study. ( 27559537 )
2016
13
Initial evaluation of hepatic T1 relaxation time as an imaging marker of liver disease associated with autosomal recessive polycystic kidney disease (ARPKD). ( 26608869 )
2016
14
Evidence for a "Pathogenic Triumvirate" in Congenital Hepatic Fibrosis in Autosomal Recessive Polycystic Kidney Disease. ( 27891514 )
2016
15
Autosomal recessive polycystic kidney disease diagnosed in a 39 year-old women with kidney failure and cramps. ( 26976269 )
2016
16
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
17
Bioinformatic tools to determine the pathogenicity of a missense mutation in PKHD1 in autosomal recessive polycystic kidney disease. ( 27595491 )
2016
18
Laparoscopic-assisted retroperitoneal nephrectomy in autosomal recessive polycystic kidney disease. ( 26474782 )
2015
19
Intragenic duplication in the PHKD1 gene in autosomal recessive polycystic kidney disease. ( 26502924 )
2015
20
Molecular genetic analysis of PKHD1 by next-generation sequencing in Czech families with autosomal recessive polycystic kidney disease. ( 26695994 )
2015
21
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
22
A labor and cost effective next generation sequencing of PKHD1 in autosomal recessive polycystic kidney disease patients. ( 25701400 )
2015
23
Clinical characteristics and mutation analysis of three Chinese children with autosomal recessive polycystic kidney disease. ( 25124979 )
2014
24
Cost-effective PKHD1 genetic testing for autosomal recessive polycystic kidney disease. ( 24162162 )
2014
25
Transcriptional complexity in autosomal recessive polycystic kidney disease. ( 25104275 )
2014
26
Impaired epithelial Na(+) channel activity contributes to cystogenesis and development of autosomal recessive polycystic kidney disease in PCK rats. ( 25279988 )
2014
27
Combined liver-kidney transplantation for children with autosomal recessive polycystic kidney disease (ARPKD): indication and outcome. ( 23582048 )
2013
28
TRPV4 dysfunction promotes renal cystogenesis in autosomal recessive polycystic kidney disease. ( 23411787 )
2013
29
Clinical and pathological features of a neonate with autosomal recessive polycystic kidney disease caused by a nonsense PKHD1 mutation. ( 23389334 )
2013
30
Characteristics of congenital hepatic fibrosis in a large cohort of patients with autosomal recessive polycystic kidney disease. ( 23041322 )
2013
31
New approaches to the autosomal recessive polycystic kidney disease patient with dual kidney-liver complications. ( 23593929 )
2013
32
Tissue culture correlational study of genetic cholangiopathy of autosomal recessive polycystic kidney disease. ( 23097114 )
2013
33
[Gene analysis and literature review of autosomal recessive polycystic kidney disease]. ( 24330989 )
2013
34
Autosomal-recessive polycystic kidney disease gets more complex. ( 23523842 )
2013
35
Telmisartan ameliorates fibrocystic liver disease in an orthologous rat model of human autosomal recessive polycystic kidney disease. ( 24324698 )
2013
36
Clinical manifestations of autosomal recessive polycystic kidney disease (ARPKD): kidney-related and non-kidney-related phenotypes. ( 24114580 )
2013
37
Autosomal recessive polycystic kidney disease: antenatal diagnosis and histopathological correlation. ( 23814685 )
2013
38
Congenital hepatic fibrosis and autosomal recessive polycystic kidney disease. ( 22197937 )
2012
39
An autopsy case of clinically un-diagnosed autosomal recessive polycystic kidney disease in 77-year-old male. ( 23252870 )
2012
40
Exome sequencing identifies compound heterozygous PKHD1 mutations as a cause of autosomal recessive polycystic kidney disease. ( 22882926 )
2012
41
Kidney and liver transplantation in patients with autosomal recessive polycystic kidney disease: a multicentric study. ( 22076432 )
2012
42
Global Gene Expression Profiling in PPAR-I^ Agonist-Treated Kidneys in an Orthologous Rat Model of Human Autosomal Recessive Polycystic Kidney Disease. ( 22666229 )
2012
43
Comparative proteomic analysis suggests that mitochondria are involved in autosomal recessive polycystic kidney disease. ( 22718539 )
2012
44
Congenital hepatic fibrosis in autosomal recessive polycystic kidney disease. ( 22212229 )
2011
45
Hepatorenal findings in obligate heterozygotes for autosomal recessive polycystic kidney disease. ( 21945273 )
2011
46
Early cyst growth is associated with the increased nuclear expression of cyclin D1/Rb protein in an autosomal-recessive polycystic kidney disease rat model. ( 20924203 )
2011
47
PPAR-gamma agonist ameliorates kidney and liver disease in an orthologous rat model of human autosomal recessive polycystic kidney disease. ( 21147840 )
2011
48
Prenatal diagnosis of autosomal recessive polycystic kidney disease by molecular genetic analysis. ( 21790888 )
2011
49
Pleuropulmonary blastoma in a child with autosomal-recessive polycystic kidney disease. ( 21720858 )
2011
50
Epithelial-to-mesenchymal transition in cyst lining epithelial cells in an orthologous PCK rat model of autosomal-recessive polycystic kidney disease. ( 21084407 )
2011

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
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
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 843)
# 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.8011C> T (p.Arg2671Ter) single nucleotide variant Pathogenic rs137852947 GRCh37 Chromosome 6, 51712669: 51712669
8 PKHD1 NM_138694.3(PKHD1): c.8011C> T (p.Arg2671Ter) single nucleotide variant Pathogenic rs137852947 GRCh38 Chromosome 6, 51847871: 51847871
9 PKHD1 NM_138694.3(PKHD1): c.1486C> T (p.Arg496Ter) single nucleotide variant Pathogenic rs137852949 GRCh37 Chromosome 6, 51923147: 51923147
10 PKHD1 NM_138694.3(PKHD1): c.1486C> T (p.Arg496Ter) single nucleotide variant Pathogenic rs137852949 GRCh38 Chromosome 6, 52058349: 52058349
11 PKHD1 NM_138694.3(PKHD1): c.10412T> G (p.Val3471Gly) single nucleotide variant Pathogenic rs137852950 GRCh37 Chromosome 6, 51524512: 51524512
12 PKHD1 NM_138694.3(PKHD1): c.10412T> G (p.Val3471Gly) single nucleotide variant Pathogenic rs137852950 GRCh38 Chromosome 6, 51659714: 51659714
13 PKHD1 PKHD1, IVS46DS, A-G, +653 single nucleotide variant Pathogenic
14 PKHD1 NM_138694.3(PKHD1): c.10031T> G (p.Leu3344Ter) single nucleotide variant Pathogenic/Likely pathogenic rs398124475 GRCh37 Chromosome 6, 51609308: 51609308
15 PKHD1 NM_138694.3(PKHD1): c.10031T> G (p.Leu3344Ter) single nucleotide variant Pathogenic/Likely pathogenic rs398124475 GRCh38 Chromosome 6, 51744510: 51744510
16 PKHD1 NM_138694.3(PKHD1): c.1602+1G> A single nucleotide variant Pathogenic rs398124476 GRCh37 Chromosome 6, 51921687: 51921687
17 PKHD1 NM_138694.3(PKHD1): c.1602+1G> A single nucleotide variant Pathogenic rs398124476 GRCh38 Chromosome 6, 52056889: 52056889
18 PKHD1 NM_138694.3(PKHD1): c.1694-1G> A single nucleotide variant Pathogenic rs398124477 GRCh37 Chromosome 6, 51920528: 51920528
19 PKHD1 NM_138694.3(PKHD1): c.1694-1G> A single nucleotide variant Pathogenic rs398124477 GRCh38 Chromosome 6, 52055730: 52055730
20 PKHD1 NM_138694.3(PKHD1): c.2341C> T (p.Arg781Ter) single nucleotide variant Pathogenic rs398124478 GRCh37 Chromosome 6, 51913356: 51913356
21 PKHD1 NM_138694.3(PKHD1): c.2341C> T (p.Arg781Ter) single nucleotide variant Pathogenic rs398124478 GRCh38 Chromosome 6, 52048558: 52048558
22 PKHD1 NM_138694.3(PKHD1): c.2407+1G> A single nucleotide variant Pathogenic rs398124479 GRCh37 Chromosome 6, 51913289: 51913289
23 PKHD1 NM_138694.3(PKHD1): c.2407+1G> A single nucleotide variant Pathogenic rs398124479 GRCh38 Chromosome 6, 52048491: 52048491
24 PKHD1 NM_138694.3(PKHD1): c.2452C> T (p.Gln818Ter) single nucleotide variant Pathogenic rs398124480 GRCh37 Chromosome 6, 51910942: 51910942
25 PKHD1 NM_138694.3(PKHD1): c.2452C> T (p.Gln818Ter) single nucleotide variant Pathogenic rs398124480 GRCh38 Chromosome 6, 52046144: 52046144
26 PKHD1 NM_138694.3(PKHD1): c.2827_2828delGA (p.Asp943Hisfs) deletion Pathogenic rs398124481 GRCh37 Chromosome 6, 51907926: 51907927
27 PKHD1 NM_138694.3(PKHD1): c.2827_2828delGA (p.Asp943Hisfs) deletion Pathogenic rs398124481 GRCh38 Chromosome 6, 52043128: 52043129
28 PKHD1 NM_138694.3(PKHD1): c.353delG (p.Ser118Ilefs) deletion Pathogenic/Likely pathogenic rs398124483 GRCh37 Chromosome 6, 51944735: 51944735
29 PKHD1 NM_138694.3(PKHD1): c.353delG (p.Ser118Ilefs) deletion Pathogenic/Likely pathogenic rs398124483 GRCh38 Chromosome 6, 52079937: 52079937
30 PKHD1 NM_138694.3(PKHD1): c.3761_3762delCCinsG (p.Ala1254Glyfs) indel Pathogenic/Likely pathogenic rs398124484 GRCh37 Chromosome 6, 51890846: 51890847
31 PKHD1 NM_138694.3(PKHD1): c.3761_3762delCCinsG (p.Ala1254Glyfs) indel Pathogenic/Likely pathogenic rs398124484 GRCh38 Chromosome 6, 52026048: 52026049
32 PKHD1 NM_138694.3(PKHD1): c.391-1G> C single nucleotide variant Pathogenic rs398124485 GRCh37 Chromosome 6, 51941132: 51941132
33 PKHD1 NM_138694.3(PKHD1): c.391-1G> C single nucleotide variant Pathogenic rs398124485 GRCh38 Chromosome 6, 52076334: 52076334
34 PKHD1 NM_138694.3(PKHD1): c.4415delGinsTATTCCCC (p.Cys1472Leufs) indel Pathogenic rs398124486 GRCh37 Chromosome 6, 51890193: 51890193
35 PKHD1 NM_138694.3(PKHD1): c.4415delGinsTATTCCCC (p.Cys1472Leufs) indel Pathogenic rs398124486 GRCh38 Chromosome 6, 52025395: 52025395
36 PKHD1 NM_138694.3(PKHD1): c.5236+1G> A single nucleotide variant Pathogenic rs398124487 GRCh37 Chromosome 6, 51889371: 51889371
37 PKHD1 NM_138694.3(PKHD1): c.5236+1G> A single nucleotide variant Pathogenic rs398124487 GRCh38 Chromosome 6, 52024573: 52024573
38 PKHD1 NM_138694.3(PKHD1): c.682A> G (p.Ser228Gly) single nucleotide variant Likely pathogenic rs398124491 GRCh37 Chromosome 6, 51935229: 51935229
39 PKHD1 NM_138694.3(PKHD1): c.682A> G (p.Ser228Gly) single nucleotide variant Likely pathogenic rs398124491 GRCh38 Chromosome 6, 52070431: 52070431
40 PKHD1 NM_138694.3(PKHD1): c.8407T> C (p.Cys2803Arg) single nucleotide variant Likely pathogenic rs398124495 GRCh37 Chromosome 6, 51656067: 51656067
41 PKHD1 NM_138694.3(PKHD1): c.8407T> C (p.Cys2803Arg) single nucleotide variant Likely pathogenic rs398124495 GRCh38 Chromosome 6, 51791269: 51791269
42 PKHD1 NM_138694.3(PKHD1): c.8408G> A (p.Cys2803Tyr) single nucleotide variant Likely pathogenic rs398124496 GRCh37 Chromosome 6, 51656066: 51656066
43 PKHD1 NM_138694.3(PKHD1): c.8408G> A (p.Cys2803Tyr) single nucleotide variant Likely pathogenic rs398124496 GRCh38 Chromosome 6, 51791268: 51791268
44 PKHD1 NM_138694.3(PKHD1): c.85G> T (p.Glu29Ter) single nucleotide variant Pathogenic rs398124498 GRCh37 Chromosome 6, 51948021: 51948021
45 PKHD1 NM_138694.3(PKHD1): c.85G> T (p.Glu29Ter) single nucleotide variant Pathogenic rs398124498 GRCh38 Chromosome 6, 52083223: 52083223
46 PKHD1 NM_138694.3(PKHD1): c.8824C> T (p.Arg2942Ter) single nucleotide variant Pathogenic/Likely pathogenic rs398124500 GRCh37 Chromosome 6, 51618125: 51618125
47 PKHD1 NM_138694.3(PKHD1): c.8824C> T (p.Arg2942Ter) single nucleotide variant Pathogenic/Likely pathogenic rs398124500 GRCh38 Chromosome 6, 51753327: 51753327
48 PKHD1 NM_138694.3(PKHD1): c.930delC (p.Thr311Leufs) deletion Pathogenic rs398124501 GRCh37 Chromosome 6, 51929799: 51929799
49 PKHD1 NM_138694.3(PKHD1): c.930delC (p.Thr311Leufs) deletion Pathogenic rs398124501 GRCh38 Chromosome 6, 52065001: 52065001
50 PKHD1 NM_138694.3(PKHD1): c.9689delA (p.Asp3230Valfs) deletion Pathogenic rs398124502 GRCh37 Chromosome 6, 51612725: 51612725

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
10.78 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 9.8 DZIP1L IFT88 PKD1 PKD2 PKHD1 TMEM67
2 motile cilium GO:0031514 9.54 IFT88 PKD1 PKD2
3 ciliary basal body GO:0036064 9.46 DZIP1L IFT88 PKD2 PKHD1
4 ciliary membrane GO:0060170 9.43 PKD1 PKD2 TMEM67
5 cilium GO:0005929 9.1 DZIP1L IFT88 PKD1 PKD2 PKHD1 TMEM67
6 polycystin complex GO:0002133 8.96 PKD1 PKD2

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

(show all 20)
# Name GO ID Score Top Affiliating Genes
1 cilium assembly GO:0060271 9.84 DZIP1L IFT88 PKHD1 TMEM67
2 calcium ion transmembrane transport GO:0070588 9.77 PKD1 PKD2 PKDREJ
3 kidney development GO:0001822 9.73 HNF1B PKD1 PKD2 PKHD1
4 epidermal growth factor receptor signaling pathway GO:0007173 9.69 AREG EGF PIK3C2A
5 branching morphogenesis of an epithelial tube GO:0048754 9.63 EGF HNF1B PKD1
6 mammary gland alveolus development GO:0060749 9.58 AREG EGF
7 placenta blood vessel development GO:0060674 9.57 PKD1 PKD2
8 cytoplasmic sequestering of transcription factor GO:0042994 9.56 PKD1 PKD2
9 positive regulation of transcription initiation from RNA polymerase II promoter GO:0060261 9.55 HNF1A HNF1B
10 nitrogen compound metabolic process GO:0006807 9.54 PKD1 PRKCSH SEC63
11 regulation of calcium ion import GO:0090279 9.52 EGF PKD2
12 detection of mechanical stimulus GO:0050982 9.5 PKD1 PKD2 PKDREJ
13 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 9.48 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
20 positive regulation of transcription by RNA polymerase II GO:0045944 10.06 HNF1A HNF1B PKD1 PKD2 PRKD1 TFAP2D

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 DZIP1L EGF HNF1A HNF1B
2 ion channel binding GO:0044325 9.33 PKD1 PKD2 PRKCSH
3 calcium channel activity GO:0005262 9.13 PKD1 PKD2 PKDREJ

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
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69 SNOMED-CT via HPO
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