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PKD4
MCID: PLY170
MIFTS: 63

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

Categories: Genetic diseases, Liver diseases, Nephrological diseases, Rare diseases, Reproductive diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Drugs
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Aliases & Classifications for Polycystic Kidney Disease 4 with or Without Polycystic Liver...

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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
Autosomal Recessive Polycystic Kidney Disease 12 52 58 29 6 15 71
Arpkd 56 12 24 52 73 54
Polycystic Kidney Disease, Autosomal Recessive 56 24 73
Polycystic Kidney and Hepatic Disease 1 56 12 73
Pkhd1 56 12 73
Polycystic Kidney Disease 4 with or Without Hepatic Disease 56 73
Polycystic Kidney Disease, Infantile, Type I 56 12
Polycystic Kidney, Autosomal Recessive 43 32
Pkd4 56 73
Polycystic Kidney Disease 4, with or Without Polycystic Liver Disease 73
Polycystic Kidney Disease 4, with or Without Hepatic Disease 56
Polycystic Kidney Disease, Autosomal Recessive; Arpkd 56
Kidney, Polycystic, Disease, Autosomal Recessive 39
Polycystic Kidney Disease 3, Autosomal Dominant 71
Polycystic Kidney and Hepatic Disease 1; Pkhd1 56
Infantile Polycystic Kidney Disease Type I 73
Polycystic Kidney Disease, Infantile Type 52
Pkd3, Formerly 56
Arpkd/chf 24
Ar-Pkd 58
Pkd3 73

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
See all MalaCards categories (disease lists)
ICD10: 32 33
Orphanet: 58  
Rare hepatic diseases
Rare renal diseases
Rare infertility disorders


External Ids:

Disease Ontology 12 DOID:0110861
OMIM 56 263200
OMIM Phenotypic Series 56 PS173900
ICD9CM 34 753.14
NCIt 49 C84579
SNOMED-CT 67 28770003
ICD10 32 Q61.1
MESH via Orphanet 44 D017044
ICD10 via Orphanet 33 Q61.1
UMLS via Orphanet 72 C0085548
Orphanet 58 ORPHA731
UMLS 71 C0085548 C3887964
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Summaries for Polycystic Kidney Disease 4 with or Without Polycystic Liver...

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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 renal-hepatic-pancreatic dysplasia and polycystic liver disease 1 with or without kidney cysts. 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 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 : 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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Related Diseases for Polycystic Kidney Disease 4 with or Without Polycystic Liver...

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Diseases in the Polycystic Kidney Disease 1 with or Without Polycystic Liver Disease family:

Polycystic Kidney Disease 4 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 132)
# Related Disease Score Top Affiliating Genes
1 renal-hepatic-pancreatic dysplasia 33.2 PKHD1 NEK9 NEK8 INVS
2 polycystic liver disease 1 with or without kidney cysts 32.9 TSC2 SEC63 PRKCSH PKHD1 PKD2 PKD1
3 polycystic liver disease 32.7 SEC63 PRKD1 PRKCSH PKHD1 PKD2 PKD1
4 orthostatic intolerance 32.4 SEC63 PRKD1 PRKCSH PKHD1 PKD2 PKD1
5 meckel syndrome, type 1 32.2 PKHD1 PKD2 PKD1 NEK9 NEK8 KIF3A
6 bardet-biedl syndrome 32.2 PKHD1 PKD2 PKD1 NEK9 NEK8 KIF3A
7 retinitis pigmentosa 32.1 PKHD1 PKD2 PKD1 NEK9 NEK8 KIF3A
8 polycystic kidney disease 2 with or without polycystic liver disease 32.0 SEC63 PRKD1 PRKCSH PKHD1 PKD2 PKD1
9 kidney disease 31.9 TSC2 PKHD1 PKD2 PKD1 NEK8 IFT88
10 polycystic kidney disease 31.6 TSC2 PRKD1 PRKCSH PKHD1 PKD2 PKD1
11 liver disease 31.5 SEC63 PRKCSH PKHD1 PKD2 PKD1
12 autosomal dominant polycystic kidney disease 31.4 TSC2 PRKD1 PKHD1 PKD2 PKD1 HNF1B
13 congenital hepatic fibrosis 31.3 PKHD1 PKD1
14 chronic kidney disease 31.2 PKD2 PKD1 INVS HNF1B
15 caroli disease 31.1 SEC63 PRKCSH PKHD1 PKD2 PKD1 INVS
16 oligohydramnios 31.1 PRKD1 PKHD1 NEK9 NEK8 HNF1B
17 polycystic kidney disease 1 with or without polycystic liver disease 31.1 TSC2 SEC63 PRKD1 PRKCSH PKHD1 PKD2
18 ascending cholangitis 30.9 PRKD1 PKHD1
19 cranioectodermal dysplasia 1 30.8 KIF3A INVS IFT88
20 nephronophthisis 2 30.8 PKHD1 PKD1 NEK9 NEK8 KIF3A INVS
21 nephronophthisis 30.7 PRKD1 PKHD1 PKD2 PKD1 NEK9 NEK8
22 joubert syndrome 1 30.5 TSC2 PRKD1 PKHD1 PKD2 PKD1 NEK9
23 cystic kidney disease 30.3 TSC2 SEC63 PRKD1 PRKCSH PKHD1 PKD2
24 polycystic kidney disease 3 with or without polycystic liver disease 12.1
25 gillessen-kaesbach-nishimura syndrome 11.7
26 polycystic kidney disease 4 11.3
27 polycystic kidney disease 5 11.2
28 potter's syndrome 11.2
29 dengue hemorrhagic fever 11.1
30 chronic interstitial cystitis 11.1
31 hepatic vascular disease 11.1
32 multicystic dysplastic kidney 10.7 PKD2 PKD1 LGALS3
33 polycystic kidney disease, infantile severe, with tuberous sclerosis 10.6 TSC2 PKD1
34 nephronophthisis 18 10.6 NEK9 NEK8 INVS
35 nephronophthisis 13 10.6 NEK9 NEK8 INVS
36 cerebral arterial disease 10.6 PRKD1 PKD2 PKD1
37 nephronophthisis 15 10.6 NEK9 NEK8 INVS
38 nephronophthisis 16 10.6 NEK9 NEK8 INVS
39 nephronophthisis 12 10.6 NEK9 NEK8 INVS
40 nephronophthisis 7 10.6 NEK9 NEK8 INVS
41 bardet-biedl syndrome 6 10.6 KIF3A INVS IFT88
42 nephronophthisis 14 10.6 NEK9 NEK8 INVS
43 nephronophthisis 9 10.6 NEK9 NEK8 INVS
44 alstrom syndrome 10.5 NEK9 NEK8 KIF3A
45 nephronophthisis-like nephropathy 1 10.5 SEC63 PRKCSH
46 autosomal genetic disease 10.5 TSC2 PRKD1 PKD2 PKD1
47 contractures, pterygia, and variable skeletal fusions syndrome 1a 10.5 TSC2 PRKD1 PRKCSH PKD2 PKD1 HNF1B
48 senior-loken syndrome 1 10.5 NEK9 NEK8 KIF3A INVS IFT88
49 infantile nephronophthisis 10.5 NEK8 INVS
50 visceral heterotaxy 10.5 PKD2 PKD1 NEK9 NEK8 KIF3A INVS

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

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

58 31 (show all 28)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 respiratory insufficiency 58 31 hallmark (90%) Very frequent (99-80%) HP:0002093
2 macrotia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000400
3 micrognathia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000347
4 renal insufficiency 58 31 hallmark (90%) Very frequent (99-80%) HP:0000083
5 depressed nasal ridge 58 31 hallmark (90%) Very frequent (99-80%) HP:0000457
6 multiple renal cysts 58 31 hallmark (90%) Very frequent (99-80%) HP:0005562
7 low-set, posteriorly rotated ears 58 31 hallmark (90%) Very frequent (99-80%) HP:0000368
8 congenital hepatic fibrosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0002612
9 hypoplasia of the ear cartilage 58 31 hallmark (90%) Very frequent (99-80%) HP:0100720
10 renal hypoplasia/aplasia 58 31 frequent (33%) Frequent (79-30%) HP:0008678
11 pancreatic cysts 58 31 frequent (33%) Frequent (79-30%) HP:0001737
12 biliary tract abnormality 58 31 frequent (33%) Frequent (79-30%) HP:0001080
13 hepatic cysts 58 31 frequent (33%) Frequent (79-30%) HP:0001407
14 hypertension 31 HP:0000822
15 splenomegaly 31 HP:0001744
16 hepatomegaly 31 HP:0002240
17 renal cyst 31 HP:0000107
18 dehydration 31 HP:0001944
19 portal hypertension 31 HP:0001409
20 oligohydramnios 31 HP:0001562
21 polycystic kidney dysplasia 31 HP:0000113
22 esophageal varix 31 HP:0002040
23 enlarged kidney 31 HP:0000105
24 pulmonary hypoplasia 31 HP:0002089
25 potter facies 31 HP:0002009
26 tubulointerstitial fibrosis 31 HP:0005576
27 periportal fibrosis 31 HP:0001405
28 absence of renal corticomedullary differentiation 31 HP:0005564

Symptoms via clinical synopsis from OMIM:

56
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

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

26 (show all 18)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00055-A-2 10.51 PIK3C2A PKD1
2 Decreased viability GR00107-A-1 10.51 NEK8
3 Decreased viability GR00173-A 10.51 NEK9
4 Decreased viability GR00221-A-1 10.51 NEK9 PIK3C2A PRKCSH
5 Decreased viability GR00221-A-2 10.51 PIK3C2A PRKCSH
6 Decreased viability GR00221-A-3 10.51 NEK8 PRKCSH
7 Decreased viability GR00221-A-4 10.51 NEK9 PIK3C2A
8 Decreased viability GR00240-S-1 10.51 LGALS3 PIK3C2A
9 Decreased viability GR00301-A 10.51 PKD2 PRKCSH
10 Decreased viability GR00342-S-1 10.51 NEK8 PIK3C2A
11 Decreased viability GR00342-S-2 10.51 NEK8 PIK3C2A
12 Decreased viability GR00342-S-3 10.51 NEK8 PIK3C2A
13 Decreased viability GR00381-A-1 10.51 AVPR2
14 Decreased viability GR00381-A-3 10.51 AVPR2
15 Decreased viability GR00402-S-2 10.51 AVPR2 DZIP1L EGF HNF1A HNF1B IFT88
16 Decreased focal adhesion (FA) area, decreased FA length, decreased FA mean intensity, increased number of small and round FAs, increased FA abundance GR00210-A 9.65 NEK8 NEK9 PKD1 PKD2 PRKD1
17 no effect GR00402-S-1 9.62 AVPR2 DZIP1L EGF HNF1A HNF1B IFT88
18 Increased cell migration GR00055-A-3 9.26 NEK8 PIK3C2A PKD1 PKD2

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

45 (show all 12)
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.31 HNF1A IFT88 INVS KIF3A LGALS3 PIK3C2A
2 cardiovascular system MP:0005385 10.29 IFT88 INVS KIF3A LGALS3 NEK8 NEK9
3 growth/size/body region MP:0005378 10.28 AVPR2 DZIP1L EGF HNF1A HNF1B IFT88
4 homeostasis/metabolism MP:0005376 10.24 AVPR2 HNF1A HNF1B IFT88 INVS KIF3A
5 digestive/alimentary MP:0005381 10.22 DZIP1L EGF HNF1A IFT88 INVS KIF3A
6 endocrine/exocrine gland MP:0005379 10.13 DZIP1L EGF HNF1A HNF1B IFT88 INVS
7 embryo MP:0005380 10.11 HNF1B IFT88 INVS KIF3A NEK9 PIK3C2A
8 mortality/aging MP:0010768 10.11 AVPR2 DZIP1L HNF1A HNF1B IFT88 INVS
9 liver/biliary system MP:0005370 10.03 DZIP1L HNF1A HNF1B IFT88 INVS LGALS3
10 integument MP:0010771 9.92 AVPR2 EGF HNF1A IFT88 LGALS3 PKD1
11 renal/urinary system MP:0005367 9.86 AVPR2 DZIP1L HNF1A HNF1B IFT88 INVS
12 respiratory system MP:0005388 9.23 IFT88 INVS KIF3A LGALS3 NEK8 PKD1
Sources

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

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

(show all 6)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Ursodeoxycholic acid Approved, Investigational Phase 2 128-13-2 31401
2 Liver Extracts Phase 2
3 Cholagogues and Choleretics Phase 2
4 Gastrointestinal Agents Phase 2
5
XL647 Phase 1 168626-94-6 5712
6 Protein Kinase Inhibitors Phase 1

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 An International, Multicenter, Randomized Controlled Clinical Trial Assessing the Efficacy of Ursodeoxycholic Acid as a Volume Reducing Treatment in Symptomatic Polycystic Liver Disease Completed NCT02021110 Phase 2 Ursodeoxycholic Acid
2 A Phase 1, Safety, Pharmacokinetic, Single Ascending Dose Study of Tesevatinib in Pediatric Subjects With Autosomal Recessive Polycystic Kidney Disease (ARPKD) Completed NCT03096080 Phase 1 Tesevatinib
3 Clinical and Molecular Investigations Into Ciliopathies Completed NCT00068224
4 Core A: The Hepato/Renal Fibrocystic Diseases Translational Resource (Hepato/Renal Fibrocystic Diseases Core Center (UAB HFRDCC)) 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

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

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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
Sources

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

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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, T Cells, Testes
Sources

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

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

(show top 50) (show all 664)
# Title Authors PMID Year
1
The gene mutated in autosomal recessive polycystic kidney disease encodes a large, receptor-like protein. 54 61 24 56 6
11919560 2002
2
Spectrum of mutations in the gene for autosomal recessive polycystic kidney disease (ARPKD/PKHD1). 54 61 56 6
12506140 2003
3
Clinical and molecular characterization defines a broadened spectrum of autosomal recessive polycystic kidney disease (ARPKD). 54 61 24 56
16523049 2006
4
Clinical consequences of PKHD1 mutations in 164 patients with autosomal-recessive polycystic kidney disease (ARPKD). 54 61 24 56
15698423 2005
5
Autosomal recessive polycystic kidney disease: a hepatorenal fibrocystic disorder with pleiotropic effects. 61 24 56
25113295 2014
6
Consensus expert recommendations for the diagnosis and management of autosomal recessive polycystic kidney disease: report of an international conference. 61 24 6
25015577 2014
7
Autosomal recessive polycystic kidney disease: the clinical experience in North America. 61 24 56
12728091 2003
8
Variable expression of autosomal recessive polycystic kidney disease and congenital hepatic fibrosis within a family. 61 24 56
3377007 1988
9
Pseudoexon activation in the PKHD1 gene: a French founder intronic mutation IVS46+653A>G causing severe autosomal recessive polycystic kidney disease. 54 61 6
19021639 2009
10
Polycystic disease of kidney and liver presenting in childhood. 24 56
5097134 1971
11
Germline PKHD1 mutations are protective against colorectal cancer. 61 6
21274727 2011
12
PKHD1 sequence variations in 78 children and adults with autosomal recessive polycystic kidney disease and congenital hepatic fibrosis. 54 61 24
19914852 2010
13
Long-lasting arrest of murine polycystic kidney disease with CDK inhibitor roscovitine. 61 56
17122773 2006
14
Liver disease in autosomal recessive polycystic kidney disease. 54 61 24
16176423 2005
15
PKHD1 mutations in autosomal recessive polycystic kidney disease (ARPKD). 54 61 24
15108277 2004
16
Mutation of hepatocyte nuclear factor-1beta inhibits Pkhd1 gene expression and produces renal cysts in mice. 54 61 24
15067314 2004
17
Cellular and subcellular localization of the ARPKD protein; fibrocystin is expressed on primary cilia. 54 61 24
12925574 2003
18
Autosomal recessive polycystic kidney disease: improvement of renal function. 61 56
12756563 2003
19
PKHD1, the polycystic kidney and hepatic disease 1 gene, encodes a novel large protein containing multiple immunoglobulin-like plexin-transcription-factor domains and parallel beta-helix 1 repeats. 54 61 24
11898128 2002
20
Polycystic Kidney Disease, Autosomal Recessive 61 6
20301501 2001
21
Urinary basic fibroblast growth factor: a noninvasive marker of progressive cystic renal disease in a child. 61 56
10869116 2000
22
Epidermal growth factor receptor activity mediates renal cyst formation in polycystic kidney disease. 61 56
9486961 1998
23
Prenatal diagnosis of autosomal recessive polycystic kidney disease (ARPKD): molecular genetics, clinical experience, and fetal morphology. 61 56
9511976 1998
24
Murine autosomal recessive polycystic kidney disease with multiorgan involvement induced by the cpk gene. 61 56
8800407 1996
25
Autosomal recessive polycystic kidney disease: long-term sonographic findings in patients surviving the neonatal period. 61 56
7717240 1995
26
The severe perinatal form of autosomal recessive polycystic kidney disease maps to chromosome 6p21.1-p12: implications for genetic counseling. 61 56
7726165 1995
27
Course of autosomal recessive polycystic kidney disease (ARPKD) in siblings: a clinical comparison of 20 sibships. 61 56
7554350 1995
28
Refining the map and defining flanking markers of the gene for autosomal recessive polycystic kidney disease on chromosome 6p21.1-p12. 61 56
7977390 1994
29
Mapping of the gene for autosomal recessive polycystic kidney disease (ARPKD) to chromosome 6p21-cen. 61 56
7920664 1994
30
Autosomal recessive polycystic kidney disease does not map to the second gene locus for autosomal dominant polycystic kidney disease on chromosome 4. 61 56
8005596 1994
31
Candidate gene associated with a mutation causing recessive polycystic kidney disease in mice. 61 56
8191288 1994
32
The mouse congenital polycystic kidney (cpk) locus maps within 1.3 cM of the chromosome 12 marker D12Nyu2. 61 56
8088836 1994
33
The mouse polycystic kidney disease mutation (cpk) is located on proximal chromosome 12. 61 56
2037305 1991
34
Autosomal recessive polycystic kidney disease. 61 56
2702087 1989
35
Autosomal recessive polycystic kidney disease. Problems of prenatal diagnosis. 61 56
3287366 1988
36
Elevated c-myc protooncogene expression in autosomal recessive polycystic kidney disease. 61 56
3479800 1987
37
Autosomal recessive and dominant forms of polycystic kidney disease are not allelic. 61 56
3479385 1987
38
Polycystic kidney disease in children: a genetic and epidemiological study of 82 Finnish patients. 61 56
3656369 1987
39
Mutations in DZIP1L, which encodes a ciliary-transition-zone protein, cause autosomal recessive polycystic kidney disease. 61 24
28530676 2017
40
Tesevatinib ameliorates progression of polycystic kidney disease in rodent models of autosomal recessive polycystic kidney disease. 61 24
28729967 2017
41
Expanding the mutation spectrum in 130 probands with ARPKD: identification of 62 novel PKHD1 mutations by sanger sequencing and MLPA analysis. 61 24
27225849 2016
42
Long-term pulmonary function in children with recessive polycystic kidney disease. 61 24
26163120 2015
43
Transplantation in autosomal recessive polycystic kidney disease: liver and/or kidney? 61 24
25115876 2015
44
Clinical manifestations of autosomal recessive polycystic kidney disease. 61 24
25689455 2015
45
Transcriptional complexity in autosomal recessive polycystic kidney disease. 61 24
25104275 2014
46
Neurocognition in children with autosomal recessive polycystic kidney disease in the CKiD cohort study. 61 24
24828609 2014
47
Pathophysiology of childhood polycystic kidney diseases: new insights into disease-specific therapy. 61 24
24336431 2014
48
New approaches to the autosomal recessive polycystic kidney disease patient with dual kidney-liver complications. 61 24
23593929 2013
49
Combined liver-kidney transplantation for children with autosomal recessive polycystic kidney disease (ARPKD): indication and outcome. 61 24
23582048 2013
50
Intracranial aneurysm and recessive polycystic kidney disease: the third reported case. 61 24
23318517 2013
Sources

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

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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 694) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 PKHD1 NM_138694.4(PKHD1):c.370C>T (p.Arg124Ter)SNV Pathogenic 167499 rs727504096 6:51944718-51944718 6:52079920-52079920
2 PKHD1 NM_138694.4(PKHD1):c.5895dup (p.Leu1966fs)duplication Pathogenic 167486 rs746838237 6:51824680-51824681 6:51959882-51959883
3 PKHD1 NM_138694.4(PKHD1):c.8303-1G>ASNV Pathogenic 188368 rs786204241 6:51656172-51656172 6:51791374-51791374
4 PKHD1 NM_138694.4(PKHD1):c.1880T>A (p.Met627Lys)SNV Pathogenic 189098 rs786204696 6:51918920-51918920 6:52054122-52054122
5 PKHD1 NM_138694.4(PKHD1):c.711_714del (p.Met238fs)deletion Pathogenic 188960 rs786204588 6:51934319-51934322 6:52069521-52069524
6 PKHD1 NM_138694.4(PKHD1):c.2854G>A (p.Gly952Arg)SNV Pathogenic 196052 rs773136605 6:51907900-51907900 6:52043102-52043102
7 PKHD1 NM_138694.4(PKHD1):c.10219C>T (p.Gln3407Ter)SNV Pathogenic 198314 rs781368899 6:51524705-51524705 6:51659907-51659907
8 PKHD1 NM_138694.4(PKHD1):c.9559del (p.Ser3187fs)deletion Pathogenic 208604 rs797045101 6:51612855-51612855 6:51748057-51748057
9 PKHD1 NM_138694.4(PKHD1):c.7560dup (p.Ala2521fs)duplication Pathogenic 216135 rs863224528 6:51732833-51732834 6:51868035-51868036
10 PKHD1 NM_138694.4(PKHD1):c.107C>T (p.Thr36Met)SNV Pathogenic 4108 rs137852944 6:51947999-51947999 6:52083201-52083201
11 PKHD1 NM_138694.4(PKHD1):c.4991C>T (p.Ser1664Phe)SNV Pathogenic 4109 rs28937907 6:51889617-51889617 6:52024819-52024819
12 PKHD1 NM_138694.4(PKHD1):c.9053C>T (p.Ser3018Phe)SNV Pathogenic 4110 rs137852945 6:51613361-51613361 6:51748563-51748563
13 PKHD1 NM_138694.3(PKHD1):c.8108-?_8173+?deldeletion Pathogenic 220428
14 PKHD1 NM_138694.4(PKHD1):c.8011C>T (p.Arg2671Ter)SNV Pathogenic 4112 rs137852947 6:51712669-51712669 6:51847871-51847871
15 PKHD1 NM_138694.4(PKHD1):c.1486C>T (p.Arg496Ter)SNV Pathogenic 4114 rs137852949 6:51923147-51923147 6:52058349-52058349
16 PKHD1 NM_138694.4(PKHD1):c.10412T>G (p.Val3471Gly)SNV Pathogenic 4115 rs137852950 6:51524512-51524512 6:51659714-51659714
17 PKHD1 NM_138694.4(PKHD1):c.2341C>T (p.Arg781Ter)SNV Pathogenic 96387 rs398124478 6:51913356-51913356 6:52048558-52048558
18 PKHD1 NM_138694.4(PKHD1):c.930del (p.Thr311fs)deletion Pathogenic 96442 rs398124501 6:51929799-51929799 6:52065001-52065001
19 PKHD1 NM_138694.4(PKHD1):c.9689del (p.Asp3230fs)deletion Pathogenic 96444 rs398124502 6:51612725-51612725 6:51747927-51747927
20 PKHD1 NM_138694.4(PKHD1):c.10637del (p.Val3546fs)deletion Pathogenic 279874 rs770461067 6:51524287-51524287 6:51659489-51659489
21 PKHD1 NM_138694.4(PKHD1):c.8190del (p.Glu2731fs)deletion Pathogenic 283651 rs886042676 6:51695771-51695771 6:51830973-51830973
22 PKHD1 NM_138694.4(PKHD1):c.707+1G>ASNV Pathogenic 285761 rs748365248 6:51935203-51935203 6:52070405-52070405
23 PKHD1 NM_138694.4(PKHD1):c.8870T>C (p.Ile2957Thr)SNV Pathogenic 357423 rs760222236 6:51618079-51618079 6:51753281-51753281
24 PKHD1 NM_138694.4(PKHD1):c.4141del (p.Val1381fs)deletion Pathogenic 371324 rs778537772 6:51890467-51890467 6:52025669-52025669
25 PKHD1 NM_138694.4(PKHD1):c.3694_3725del (p.Val1232fs)deletion Pathogenic 370781 rs1057516762 6:51890883-51890914 6:52026085-52026116
26 PKHD1 NM_138694.4(PKHD1):c.6907A>T (p.Ile2303Phe)SNV Pathogenic 406889 rs751084512 6:51768484-51768484 6:51903686-51903686
27 PKHD1 NM_138694.4(PKHD1):c.664A>G (p.Ile222Val)SNV Pathogenic 406891 rs369925690 6:51935807-51935807 6:52071009-52071009
28 PKHD1 NM_138694.4(PKHD1):c.1233+99_1694-441deldeletion Pathogenic 433027 6:51920968-51924627 6:52056170-52059829
29 PKD2 NM_000297.4(PKD2):c.670del (p.Leu224fs)deletion Pathogenic 434013 rs1553924173 4:88940684-88940684 4:88019532-88019532
30 PKD1 NM_001009944.3(PKD1):c.12010C>T (p.Gln4004Ter)SNV Pathogenic 434006 rs766551411 16:2140803-2140803 16:2090802-2090802
31 PKD1 NM_001009944.3(PKD1):c.11798_11810del (p.Leu3933fs)deletion Pathogenic 434005 rs1555445192 16:2141078-2141090 16:2091077-2091089
32 PKD1 NM_001009944.3(PKD1):c.11461C>T (p.Gln3821Ter)SNV Pathogenic 434003 rs1325300747 16:2141858-2141858 16:2091857-2091857
33 PKD1 NM_001009944.3(PKD1):c.10698_10703GGCTGT[2] (p.3567_3568AV[2])short repeat Pathogenic 434001 rs777460677 16:2143918-2143923 16:2093917-2093922
34 PKD1 NM_001009944.3(PKD1):c.9074_9076delinsA (p.Trp3025_Arg3026delinsTer)indel Pathogenic 433996 rs1555450424 16:2152507-2152509 16:2102506-2102508
35 PKD1 NM_001009944.3(PKD1):c.8095C>T (p.Gln2699Ter)SNV Pathogenic 433984 rs1222094213 16:2154565-2154565 16:2104564-2104564
36 PKD1 NM_001009944.3(PKD1):c.7174del (p.Arg2392fs)deletion Pathogenic 433978 rs1555453360 16:2156841-2156841 16:2106840-2106840
37 PKD1 NM_001009944.3(PKD1):c.7137C>G (p.Tyr2379Ter)SNV Pathogenic 433977 rs752114168 16:2156878-2156878 16:2106877-2106877
38 PKD1 NM_001009944.3(PKD1):c.6987_6993GCTGGCG[3] (p.Val2334fs)short repeat Pathogenic 433976 rs1555453872 16:2157948-2157949 16:2107947-2107948
39 PKD1 NM_001009944.3(PKD1):c.6487C>T (p.Arg2163Ter)SNV Pathogenic 433972 rs1555454411 16:2158681-2158681 16:2108680-2108680
40 PKD1 NM_001009944.3(PKD1):c.6307C>T (p.Gln2103Ter)SNV Pathogenic 433971 rs1555454512 16:2158861-2158861 16:2108860-2108860
41 PKD1 NM_001009944.3(PKD1):c.6199C>T (p.Gln2067Ter)SNV Pathogenic 433970 rs1555454604 16:2158969-2158969 16:2108968-2108968
42 PKD1 NM_001009944.3(PKD1):c.4461del (p.Ser1488fs)deletion Pathogenic 433962 rs1555455998 16:2160707-2160707 16:2110706-2110706
43 PKD1 NM_001009944.3(PKD1):c.2215C>T (p.Arg739Trp)SNV Pathogenic 433952 rs747483368 16:2164809-2164809 16:2114808-2114808
44 PKD1 NM_001009944.3(PKD1):c.1583A>G (p.Tyr528Cys)SNV Pathogenic 433946 rs750798165 16:2166857-2166857 16:2116856-2116856
45 PKD1 NM_001009944.2:c.6468-?_10050+?deldeletion Pathogenic 433593 16:2149645-2158700
46 PKD1 NM_001009944.2:c.8949-?_9397+?deldeletion Pathogenic 433595 16:2152062-2152634
47 PKHD1 NM_138694.4(PKHD1):c.7351-1G>CSNV Pathogenic 438689 rs1554282540 6:51735438-51735438 6:51870640-51870640
48 PKD1 NM_001009944.3(PKD1):c.12514del (p.Ser4172fs)deletion Pathogenic 434009 rs1555444225 16:2140126-2140126 16:2090125-2090125
49 PKD1 NM_001009944.3(PKD1):c.12445-2A>CSNV Pathogenic 434008 rs1555444334 16:2140197-2140197 16:2090196-2090196
50 PKHD1 NM_138694.4(PKHD1):c.5411del (p.Arg1804fs)deletion Pathogenic 458602 rs1554194574 6:51882397-51882397 6:52017599-52017599

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

73 (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 rs141204516
11 PKHD1 p.Glu1995Gly VAR_014055 rs155414435
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 rs128801788
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 rs922828020
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 rs119798181
35 PKHD1 p.Thr1781Ile VAR_018551 rs155419702
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 rs121034855
43 PKHD1 p.Val2032Leu VAR_018560 rs118711277
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 rs155426308
49 PKHD1 p.Leu2772Pro VAR_018568
50 PKHD1 p.Tyr2863Cys VAR_018570 rs134255553

Sources

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

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

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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
Type II diabetes mellitus 36 1
Show member pathways
 11.31 PIK3C2A HNF1B HNF1A
2
Hedgehog signaling events mediated by Gli proteins 1
10.44 LGALS3 KIF3A IFT88
3
Advanced glycosylation endproduct receptor signaling 65
10.07 PRKCSH LGALS3
Sources

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

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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 cytoplasm GO:0005737 10.28 TSC2 PRKD1 PKHD1 PKD2 PKD1 PIK3C2A
2 centrosome GO:0005813 9.8 PKHD1 NEK9 NEK8 KIF3A IFT88
3 motile cilium GO:0031514 9.62 PKD2 PKD1 KIF3A IFT88
4 ciliary basal body GO:0036064 9.56 PKHD1 PKD2 IFT88 DZIP1L
5 cell projection GO:0042995 9.56 PKHD1 PKD2 PKD1 NEK8 KIF3A INVS
6 cation channel complex GO:0034703 9.37 PKD2 PKD1
7 cilium GO:0005929 9.23 PKHD1 PKD2 PKD1 NEK8 KIF3A INVS
8 polycystin complex GO:0002133 9.16 PKD2 PKD1

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 heart development GO:0007507 9.83 TSC2 PKD2 PKD1 NEK8 KIF3A
2 cilium assembly GO:0060271 9.81 PKHD1 KIF3A IFT88 DZIP1L
3 determination of left/right symmetry GO:0007368 9.72 PKD2 NEK8 KIF3A
4 neural tube development GO:0021915 9.67 PKD2 PKD1 KIF3A
5 branching morphogenesis of an epithelial tube GO:0048754 9.63 PKD1 HNF1B EGF
6 negative regulation of endocytosis GO:0045806 9.58 PRKD1 LGALS3
7 placenta blood vessel development GO:0060674 9.58 PKD2 PKD1
8 detection of mechanical stimulus GO:0050982 9.57 PKD2 PKD1
9 cytoplasmic sequestering of transcription factor GO:0042994 9.56 PKD2 PKD1
10 regulation of calcium ion import GO:0090279 9.54 PKD2 EGF
11 positive regulation of transcription initiation from RNA polymerase II promoter GO:0060261 9.52 HNF1B HNF1A
12 nitrogen compound metabolic process GO:0006807 9.5 SEC63 PRKCSH PKD1
13 metanephric ascending thin limb development GO:0072218 9.48 PKD2 PKD1
14 mesonephric tubule development GO:0072164 9.43 PKD2 PKD1 HNF1B
15 kidney development GO:0001822 9.43 PKHD1 PKD2 PKD1 KIF3A IFT88 HNF1B
16 cell-cell signaling by wnt GO:0198738 9.4 PKD2 PKD1
17 regulation of pronephros size GO:0035565 9.37 HNF1B HNF1A
18 mesonephric duct development GO:0072177 9.33 PKD2 PKD1 HNF1B
19 liver development GO:0001889 9.1 SEC63 PRKCSH PKD2 PKD1 HNF1B HNF1A

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 9.6 TSC2 SEC63 PRKD1 PRKCSH PLXNC1 PKHD1
2 ion channel binding GO:0044325 9.33 PRKCSH PKD2 PKD1
3 Wnt-activated receptor activity GO:0042813 8.96 PKD1 EGF
Sources

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

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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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