PKD4
MCID: PLY170
MIFTS: 64

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 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
Kidney, Polycystic, Disease, Type 4, with/without Hepatic Disease 39
Polycystic Kidney Disease 4, with or Without Hepatic Disease 56
Polycystic Kidney Disease, Autosomal Recessive; Arpkd 56
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:

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

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

NIH Rare Diseases : 52 Autosomal recessive polycystic kidney disease (ARPKD) is a genetic condition that is characterized by the growth of cysts in the kidneys (which lead to kidney failure ) and liver and problems in other organs , such as the blood vessels in the brain and heart. The severity varies from person to person. The signs of ARPKD frequently begin before birth, so it is often called "infantile PKD" but some people do not develop symptoms until later in childhood or even adulthood. Children born with ARPKD often, but not always, develop kidney failure before reaching adulthood; babies with the worst cases die hours or days after birth due to respiratory difficulties or respiratory failure. Liver scarring occurs in all patients. The condition is caused by a mutation in the PKHD1 gene and is inherited in an autosomal recessive manner. Some symptoms of the condition may be controlled by medicines, antibiotics , healthy diet, and growth hormones .

MalaCards based summary : Polycystic Kidney Disease 4 with or Without Polycystic Liver Disease, also known as autosomal recessive polycystic kidney disease, is related to polycystic kidney disease 3 with or without polycystic liver disease and renal-hepatic-pancreatic dysplasia. An important gene associated with Polycystic Kidney Disease 4 with or Without Polycystic Liver Disease is PKHD1 (PKHD1 Ciliary IPT Domain Containing Fibrocystin/Polyductin), and among its related pathways/superpathways are Type II diabetes mellitus and Hedgehog signaling events mediated by Gli proteins. The drugs Ursodeoxycholic acid and Liver Extracts have been mentioned in the context of this disorder. Affiliated tissues include kidney, liver and heart, and related phenotypes are renal insufficiency and micrognathia

Disease Ontology : 12 A polycystic kidney disease characterized by the presence of multiple cysts located in the kidney resulting from ciliopathy that disrupts the function of primary cilium, inherited in an autosomal recessive fashion.

OMIM : 56 PKD4 is an autosomal recessive polycystic kidney disease (ARPKD) characterized by enlarged, echogenic kidneys with fusiform dilatation of the collecting ducts. Most patients progress to end-stage renal disease (ESRD), but at varying ages. Patients also have liver disease consisting of dilated biliary ducts, congenital hepatic fibrosis (CHF), and portal hypertension (Caroli disease). The most typical disease expression occurs in neonates and includes a history of oligohydramnios, massively enlarged kidneys, and the 'Potter' sequence with pulmonary hypoplasia that leads to respiratory insufficiency and perinatal death in approximately 30% of affected newborns (summary by Hartung and Guay-Woodford, 2014). For a discussion of genetic heterogeneity of polycystic kidney disease, see PKD1 (173900). (263200)

UniProtKB/Swiss-Prot : 73 Polycystic kidney disease 4, with or without polycystic liver disease: A severe form of polycystic kidney disease affecting the kidneys and, in some cases, the hepatic biliary tract. The clinical spectrum is widely variable, with most cases presenting during infancy. The fetal phenotypic features classically include enlarged and echogenic kidneys, as well as oligohydramnios secondary to a poor urine output. Up to 50% of the affected neonates die shortly after birth, as a result of severe pulmonary hypoplasia and secondary respiratory insufficiency. In the subset that survives the perinatal period, morbidity and mortality are mainly related to severe systemic hypertension, renal insufficiency, and portal hypertension due to portal-tract fibrosis. PKD4 inheritance is autosomal recessive.

GeneReviews: NBK1326

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 135)
# Related Disease Score Top Affiliating Genes
1 polycystic kidney disease 3 with or without polycystic liver disease 33.9 PRKD1 PKD2 PKD1
2 renal-hepatic-pancreatic dysplasia 33.2 PKHD1 NEK8 INVS
3 polycystic liver disease 1 with or without kidney cysts 32.9 TSC2 SEC63 PRKCSH PKHD1 PKD2 PKD1
4 polycystic liver disease 32.8 SEC63 PRKD1 PRKCSH PKHD1 PKD2 PKD1
5 orthostatic intolerance 32.5 SEC63 PRKD1 PRKCSH PKHD1 PKD2 PKD1
6 meckel syndrome, type 1 32.3 PKHD1 PKD2 PKD1 NEK9 NEK8 KIF3A
7 bardet-biedl syndrome 32.3 PKHD1 PKD2 PKD1 NEK9 NEK8 KIF3A
8 retinitis pigmentosa 32.1 PKHD1 PKD2 PKD1 NEK9 NEK8 KIF3A
9 polycystic kidney disease 2 with or without polycystic liver disease 32.1 SEC63 PRKD1 PRKCSH PKHD1 PKD2 PKD1
10 kidney disease 31.9 TSC2 PKHD1 PKD2 PKD1 NEK8 IFT88
11 polycystic kidney disease 31.6 TSC2 PRKD1 PRKCSH PKHD1 PKD2 PKD1
12 liver disease 31.5 SEC63 PRKCSH PKHD1 PKD2 PKD1
13 end stage renal disease 31.4 PKD2 PKD1 NEK8 INVS
14 caroli disease 31.1 SEC63 PRKCSH PKHD1 PKD2 PKD1 INVS
15 congenital hepatic fibrosis 31.1 PKHD1 PKD1
16 polycystic kidney disease 1 with or without polycystic liver disease 31.1 TSC2 SEC63 PRKD1 PRKCSH PKHD1 PKD2
17 oligohydramnios 30.9 PKHD1 NEK8 INVS HNF1B
18 ascending cholangitis 30.8 PRKD1 PKHD1
19 cranioectodermal dysplasia 1 30.8 KIF3A INVS IFT88
20 autosomal dominant polycystic kidney disease 30.8 TSC2 PRKD1 PKHD1 PKD2 PKD1 HNF1B
21 nephronophthisis 2 30.8 PKHD1 PKD2 PKD1 NEK9 NEK8 KIF3A
22 nephronophthisis 30.7 PRKD1 PKHD1 PKD2 PKD1 NEK9 NEK8
23 joubert syndrome 1 30.7 SEC63 PKHD1 PKD2 PKD1 NEK9 NEK8
24 cystic kidney disease 30.5 TSC2 SEC63 PRKD1 PRKCSH PKHD1 PKD2
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 retinitis pigmentosa 2 11.1
32 hepatic vascular disease 11.1
33 multicystic dysplastic kidney 10.7 PKD2 PKD1 LGALS3
34 polycystic kidney disease, infantile severe, with tuberous sclerosis 10.6 TSC2 PKD1
35 nephronophthisis 13 10.6 NEK9 NEK8 INVS
36 nephronophthisis 11 10.6 NEK9 NEK8 INVS
37 contractures, pterygia, and spondylocarpotarsal fusion syndrome 1a 10.6 TSC2 PRKD1 PKD2 PKD1 HNF1A
38 nephronophthisis 15 10.6 NEK9 NEK8 INVS
39 autosomal genetic disease 10.6 TSC2 PRKD1 PKD2 PKD1 EGF
40 nephronophthisis 12 10.6 NEK9 NEK8 INVS
41 nephronophthisis 7 10.6 NEK9 NEK8 INVS
42 nephronophthisis 16 10.6 NEK9 NEK8 INVS
43 nephronophthisis 14 10.6 NEK9 NEK8 INVS
44 bardet-biedl syndrome 6 10.6 KIF3A INVS IFT88
45 nephronophthisis 9 10.5 NEK9 NEK8 INVS
46 senior-loken syndrome 1 10.5 NEK9 NEK8 KIF3A INVS IFT88
47 maturity-onset diabetes of the young, type 8, with exocrine dysfunction 10.5 HNF1B HNF1A
48 visceral heterotaxy 10.5 PKD2 PKD1 NEK9 NEK8 KIF3A INVS
49 kartagener syndrome 10.5 PKD2 PKD1 NEK9 NEK8 KIF3A INVS
50 nephronophthisis-like nephropathy 1 10.5 SEC63 PRKCSH

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...

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

58 31 (show top 50) (show all 65)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 renal insufficiency 58 31 hallmark (90%) Frequent (79-30%) HP:0000083
2 micrognathia 58 31 hallmark (90%) Very rare (<4-1%) HP:0000347
3 depressed nasal ridge 58 31 hallmark (90%) Very rare (<4-1%) HP:0000457
4 congenital hepatic fibrosis 58 31 hallmark (90%) Frequent (79-30%) HP:0002612
5 macrotia 31 hallmark (90%) HP:0000400
6 respiratory insufficiency 31 hallmark (90%) HP:0002093
7 low-set, posteriorly rotated ears 31 hallmark (90%) HP:0000368
8 multiple renal cysts 31 hallmark (90%) HP:0005562
9 hypoplasia of the ear cartilage 31 hallmark (90%) HP:0100720
10 pancreatic cysts 58 31 frequent (33%) Very rare (<4-1%) HP:0001737
11 renal hypoplasia/aplasia 31 frequent (33%) HP:0008678
12 biliary tract abnormality 31 frequent (33%) HP:0001080
13 hepatic cysts 31 frequent (33%) HP:0001407
14 splenomegaly 58 31 Frequent (79-30%) HP:0001744
15 portal hypertension 58 31 Frequent (79-30%) HP:0001409
16 hypertension 58 31 Very frequent (99-80%) HP:0000822
17 polycystic kidney dysplasia 58 31 Very frequent (99-80%) HP:0000113
18 esophageal varix 58 31 Frequent (79-30%) HP:0002040
19 enlarged kidney 58 31 Very frequent (99-80%) HP:0000105
20 oligohydramnios 58 31 Frequent (79-30%) HP:0001562
21 pulmonary hypoplasia 58 31 Frequent (79-30%) HP:0002089
22 periportal fibrosis 58 31 Very frequent (99-80%) HP:0001405
23 hepatomegaly 31 HP:0002240
24 cognitive impairment 58 Very rare (<4-1%)
25 dehydration 31 HP:0001944
26 polydipsia 58 Occasional (29-5%)
27 feeding difficulties 58 Frequent (79-30%)
28 ascites 58 Occasional (29-5%)
29 recurrent urinary tract infections 58 Occasional (29-5%)
30 gastrointestinal hemorrhage 58 Occasional (29-5%)
31 growth delay 58 Frequent (79-30%)
32 low-set ears 58 Very rare (<4-1%)
33 hepatic fibrosis 58 Very frequent (99-80%)
34 thrombocytopenia 58 Occasional (29-5%)
35 jaundice 58 Occasional (29-5%)
36 hypersplenism 58 Frequent (79-30%)
37 spontaneous pneumothorax 58 Very rare (<4-1%)
38 hyponatremia 58 Frequent (79-30%)
39 low levels of vitamin d 58 Frequent (79-30%)
40 recurrent pneumonia 58 Occasional (29-5%)
41 hepatoblastoma 58 Occasional (29-5%)
42 cholestasis 58 Frequent (79-30%)
43 fat malabsorption 58 Frequent (79-30%)
44 low levels of vitamin e 58 Frequent (79-30%)
45 low levels of vitamin a 58 Frequent (79-30%)
46 respiratory failure 58 Frequent (79-30%)
47 renal cyst 31 HP:0000107
48 hepatosplenomegaly 58 Occasional (29-5%)
49 oliguria 58 Occasional (29-5%)
50 low levels of vitamin k 58 Frequent (79-30%)

Symptoms via clinical synopsis from OMIM:

56
Abdomen Spleen:
splenomegaly

Metabolic Features:
dehydration

Abdomen Pancreas:
pancreatic cysts

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

Abdomen Liver:
hepatomegaly
portal hypertension
hepatic cysts
periportal fibrosis

Cardiovascular Vascular:
hypertension

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 20)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00055-A-1 9.95 PIK3C2A PKD1
2 Decreased viability GR00055-A-2 9.95 PIK3C2A PKD1
3 Decreased viability GR00055-A-3 9.95 PIK3C2A
4 Decreased viability GR00107-A-1 9.95 NEK8
5 Decreased viability GR00173-A 9.95 NEK9
6 Decreased viability GR00221-A-1 9.95 NEK9 PIK3C2A PRKCSH
7 Decreased viability GR00221-A-2 9.95 PIK3C2A PRKCSH
8 Decreased viability GR00221-A-3 9.95 NEK8 PRKCSH
9 Decreased viability GR00221-A-4 9.95 NEK9 PIK3C2A
10 Decreased viability GR00240-S-1 9.95 LGALS3 PIK3C2A
11 Decreased viability GR00249-S 9.95 DZIP1L HNF1B KIF3A NEK8 PIK3C2A PKD2
12 Decreased viability GR00301-A 9.95 PKD2 PRKCSH
13 Decreased viability GR00342-S-1 9.95 NEK8 PIK3C2A
14 Decreased viability GR00342-S-2 9.95 NEK8 PIK3C2A
15 Decreased viability GR00342-S-3 9.95 NEK8 PIK3C2A
16 Decreased viability GR00381-A-1 9.95 AVPR2
17 Decreased viability GR00381-A-3 9.95 AVPR2
18 Decreased viability GR00386-A-1 9.95 HNF1B KIF3A SEC63
19 Decreased viability GR00402-S-2 9.95 DZIP1L NEK8 NEK9 PRKD1
20 Decreased cell migration GR00055-A-3 8.65 PKD1

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

45 (show all 14)
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.37 HNF1A HNF1B IFT88 INVS KIF3A LGALS3
2 growth/size/body region MP:0005378 10.33 AVPR2 DZIP1L EGF HNF1A HNF1B IFT88
3 cardiovascular system MP:0005385 10.31 IFT88 INVS KIF3A LGALS3 NEK8 NEK9
4 homeostasis/metabolism MP:0005376 10.31 AVPR2 HNF1A HNF1B IFT88 INVS KIF3A
5 digestive/alimentary MP:0005381 10.25 DZIP1L EGF HNF1A IFT88 INVS KIF3A
6 hematopoietic system MP:0005397 10.21 AVPR2 INVS LGALS3 NEK8 NEK9 PIK3C2A
7 endocrine/exocrine gland MP:0005379 10.18 DZIP1L EGF HNF1A HNF1B IFT88 INVS
8 embryo MP:0005380 10.15 HNF1B IFT88 INVS KIF3A NEK9 PIK3C2A
9 immune system MP:0005387 10.11 EGF HNF1B INVS LGALS3 NEK8 NEK9
10 mortality/aging MP:0010768 10.11 AVPR2 DZIP1L HNF1A HNF1B IFT88 INVS
11 liver/biliary system MP:0005370 10.03 DZIP1L HNF1A HNF1B IFT88 INVS LGALS3
12 integument MP:0010771 9.97 AVPR2 EGF HNF1A IFT88 LGALS3 NEK9
13 renal/urinary system MP:0005367 9.86 AVPR2 DZIP1L HNF1A HNF1B IFT88 INVS
14 respiratory system MP:0005388 9.23 IFT88 INVS KIF3A LGALS3 NEK8 PKD1

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
Ursodeoxycholic acid Approved, Investigational Phase 2 128-13-2 31401
2 Liver Extracts Phase 2
3 Gastrointestinal Agents Phase 2
4 Protein Kinase Inhibitors Phase 1
5
XL647 Phase 1 168626-94-6 5712

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

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...

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

19
Kidney

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

40
Kidney, Liver, Heart, Brain, Lung, Testes, Fetal Liver

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 677)
# Title Authors PMID Year
1
The gene mutated in autosomal recessive polycystic kidney disease encodes a large, receptor-like protein. 61 54 56 6 24
11919560 2002
2
Spectrum of mutations in the gene for autosomal recessive polycystic kidney disease (ARPKD/PKHD1). 54 61 6 56
12506140 2003
3
Clinical and molecular characterization defines a broadened spectrum of autosomal recessive polycystic kidney disease (ARPKD). 56 24 54 61
16523049 2006
4
Clinical consequences of PKHD1 mutations in 164 patients with autosomal-recessive polycystic kidney disease (ARPKD). 61 24 56 54
15698423 2005
5
Autosomal recessive polycystic kidney disease: a hepatorenal fibrocystic disorder with pleiotropic effects. 24 56 61
25113295 2014
6
Consensus expert recommendations for the diagnosis and management of autosomal recessive polycystic kidney disease: report of an international conference. 24 61 6
25015577 2014
7
Autosomal recessive polycystic kidney disease: the clinical experience in North America. 61 56 24
12728091 2003
8
Variable expression of autosomal recessive polycystic kidney disease and congenital hepatic fibrosis within a family. 56 24 61
3377007 1988
9
Pseudoexon activation in the PKHD1 gene: a French founder intronic mutation IVS46+653A>G causing severe autosomal recessive polycystic kidney disease. 6 54 61
19021639 2009
10
Polycystic disease of kidney and liver presenting in childhood. 56 24
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. 24 61 54
19914852 2010
13
Long-lasting arrest of murine polycystic kidney disease with CDK inhibitor roscovitine. 56 61
17122773 2006
14
Liver disease in autosomal recessive polycystic kidney disease. 61 54 24
16176423 2005
15
PKHD1 mutations in autosomal recessive polycystic kidney disease (ARPKD). 24 61 54
15108277 2004
16
Mutation of hepatocyte nuclear factor-1beta inhibits Pkhd1 gene expression and produces renal cysts in mice. 61 54 24
15067314 2004
17
Cellular and subcellular localization of the ARPKD protein; fibrocystin is expressed on primary cilia. 61 54 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 24 61
11898128 2002
20
Polycystic Kidney Disease, Autosomal Recessive 6 61
20301501 2001
21
Urinary basic fibroblast growth factor: a noninvasive marker of progressive cystic renal disease in a child. 61 56
10869116 2000
22
Prenatal diagnosis of autosomal recessive polycystic kidney disease (ARPKD): molecular genetics, clinical experience, and fetal morphology. 61 56
9511976 1998
23
Epidermal growth factor receptor activity mediates renal cyst formation in polycystic kidney disease. 56 61
9486961 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. 56 61
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. 56 61
7977390 1994
29
Mapping of the gene for autosomal recessive polycystic kidney disease (ARPKD) to chromosome 6p21-cen. 56 61
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. 56 61
8005596 1994
31
The mouse congenital polycystic kidney (cpk) locus maps within 1.3 cM of the chromosome 12 marker D12Nyu2. 61 56
8088836 1994
32
Candidate gene associated with a mutation causing recessive polycystic kidney disease in mice. 61 56
8191288 1994
33
The mouse polycystic kidney disease mutation (cpk) is located on proximal chromosome 12. 56 61
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. 56 61
3479385 1987
38
Polycystic kidney disease in children: a genetic and epidemiological study of 82 Finnish patients. 56 61
3656369 1987
39
Mutations in DZIP1L, which encodes a ciliary-transition-zone protein, cause autosomal recessive polycystic kidney disease. 24 61
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. 24 61
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. 24 61
25689455 2015
45
Neurocognition in children with autosomal recessive polycystic kidney disease in the CKiD cohort study. 24 61
24828609 2014
46
Transcriptional complexity in autosomal recessive polycystic kidney disease. 24 61
25104275 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. 24 61
23593929 2013
49
Combined liver-kidney transplantation for children with autosomal recessive polycystic kidney disease (ARPKD): indication and outcome. 24 61
23582048 2013
50
Characteristics of congenital hepatic fibrosis in a large cohort of patients with autosomal recessive polycystic kidney disease. 24 61
23041322 2013

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

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

6 (show top 50) (show all 1080) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 PKHD1 NM_138694.4(PKHD1):c.664A>G (p.Ile222Val)SNV Pathogenic 406891 rs369925690 6:51935807-51935807 6:52071009-52071009
2 PKHD1 NM_138694.4(PKHD1):c.6907A>T (p.Ile2303Phe)SNV Pathogenic 406889 rs751084512 6:51768484-51768484 6:51903686-51903686
3 PKHD1 NM_138694.4(PKHD1):c.1233+99_1694-441deldeletion Pathogenic 433027 6:51920968-51924627 6:52056170-52059829
4 PKD2 NM_000297.4(PKD2):c.670del (p.Leu224fs)deletion Pathogenic 434013 rs1553924173 4:88940684-88940684 4:88019532-88019532
5 PKD1 NM_001009944.3(PKD1):c.12514del (p.Ser4172fs)deletion Pathogenic 434009 rs1555444225 16:2140126-2140126 16:2090125-2090125
6 PKD1 NM_001009944.3(PKD1):c.12445-2A>CSNV Pathogenic 434008 rs1555444334 16:2140197-2140197 16:2090196-2090196
7 PKD1 NM_001009944.3(PKD1):c.12010C>T (p.Gln4004Ter)SNV Pathogenic 434006 rs766551411 16:2140803-2140803 16:2090802-2090802
8 PKD1 NM_001009944.3(PKD1):c.11798_11810del (p.Leu3933fs)deletion Pathogenic 434005 rs1555445192 16:2141078-2141090 16:2091077-2091089
9 PKD1 NM_001009944.3(PKD1):c.11461C>T (p.Gln3821Ter)SNV Pathogenic 434003 rs1325300747 16:2141858-2141858 16:2091857-2091857
10 PKD1 NM_001009944.3(PKD1):c.8095C>T (p.Gln2699Ter)SNV Pathogenic 433984 rs1222094213 16:2154565-2154565 16:2104564-2104564
11 PKD1 NM_001009944.3(PKD1):c.7174del (p.Arg2392fs)deletion Pathogenic 433978 rs1555453360 16:2156841-2156841 16:2106840-2106840
12 PKD1 NM_001009944.3(PKD1):c.7137C>G (p.Tyr2379Ter)SNV Pathogenic 433977 rs752114168 16:2156878-2156878 16:2106877-2106877
13 PKD1 NM_001009944.3(PKD1):c.6987_6993GCTGGCG[3] (p.Val2334fs)short repeat Pathogenic 433976 rs1555453872 16:2157948-2157949 16:2107947-2107948
14 PKD1 NM_001009944.3(PKD1):c.6487C>T (p.Arg2163Ter)SNV Pathogenic 433972 rs1555454411 16:2158681-2158681 16:2108680-2108680
15 PKD1 NM_001009944.3(PKD1):c.6307C>T (p.Gln2103Ter)SNV Pathogenic 433971 rs1555454512 16:2158861-2158861 16:2108860-2108860
16 PKD1 NM_001009944.3(PKD1):c.6199C>T (p.Gln2067Ter)SNV Pathogenic 433970 rs1555454604 16:2158969-2158969 16:2108968-2108968
17 PKD1 NM_001009944.3(PKD1):c.4461del (p.Ser1488fs)deletion Pathogenic 433962 rs1555455998 16:2160707-2160707 16:2110706-2110706
18 PKD1 NM_001009944.3(PKD1):c.2215C>T (p.Arg739Trp)SNV Pathogenic 433952 rs747483368 16:2164809-2164809 16:2114808-2114808
19 PKD1 NM_001009944.3(PKD1):c.1583A>G (p.Tyr528Cys)SNV Pathogenic 433946 rs750798165 16:2166857-2166857 16:2116856-2116856
20 PKD1 NM_001009944.2:c.6468-?_10050+?deldeletion Pathogenic 433593 16:2149645-2158700
21 PKD1 NM_001009944.2:c.8949-?_9397+?deldeletion Pathogenic 433595 16:2152062-2152634
22 PKHD1 NM_138694.4(PKHD1):c.7351-1G>CSNV Pathogenic 438689 rs1554282540 6:51735438-51735438 6:51870640-51870640
23 PKD1 NM_001009944.3(PKD1):c.9074_9076delinsA (p.Trp3025_Arg3026delinsTer)indel Pathogenic 433996 rs1555450424 16:2152507-2152509 16:2102506-2102508
24 PKHD1 NM_138694.4(PKHD1):c.5411del (p.Arg1804fs)deletion Pathogenic 458602 rs1554194574 6:51882397-51882397 6:52017599-52017599
25 PKHD1 NM_138694.4(PKHD1):c.2811G>A (p.Trp937Ter)SNV Pathogenic 458592 rs1344820986 6:51908433-51908433 6:52043635-52043635
26 PKHD1 NM_138694.4(PKHD1):c.4295del (p.Val1432fs)deletion Pathogenic 458596 rs1246693314 6:51890313-51890313 6:52025515-52025515
27 PKHD1 NM_138694.4(PKHD1):c.11612G>A (p.Trp3871Ter)SNV Pathogenic 458588 rs1554167673 6:51497416-51497416 6:51632618-51632618
28 PKHD1 NM_138694.4(PKHD1):c.10443del (p.Leu3481fs)deletion Pathogenic 458584 rs1554183559 6:51524481-51524481 6:51659683-51659683
29 PKHD1 NM_138694.4(PKHD1):c.10174C>T (p.Gln3392Ter)SNV Pathogenic 488579 rs201082169 6:51524750-51524750 6:51659952-51659952
30 PKHD1 NM_138694.4(PKHD1):c.9646C>T (p.Gln3216Ter)SNV Pathogenic 528297 rs758732107 6:51612768-51612768 6:51747970-51747970
31 PKHD1 NM_138694.4(PKHD1):c.4352_4356delinsAAGGGGTCA (p.Pro1451fs)indel Pathogenic 528302 rs1554198780 6:51890252-51890256 6:52025454-52025458
32 PKHD1 NM_138694.4(PKHD1):c.3463C>T (p.Gln1155Ter)SNV Pathogenic 528301 rs1554200780 6:51893051-51893051 6:52028253-52028253
33 PKHD1 NM_138694.4(PKHD1):c.10856del (p.Lys3619fs)deletion Pathogenic 552098 rs1554183235 6:51524068-51524068 6:51659270-51659270
34 PKHD1 NM_138694.4(PKHD1):c.5323C>T (p.Arg1775Ter)SNV Pathogenic 550139 rs770522674 6:51887656-51887656 6:52022858-52022858
35 PKHD1 NM_138694.4(PKHD1):c.7122del (p.Phe2374fs)deletion Pathogenic 556905 rs1554289495 6:51750758-51750758 6:51885960-51885960
36 PKHD1 NM_138694.4(PKHD1):c.6383del (p.Ile2127_Leu2128insTer)deletion Pathogenic 557288 rs1405067373 6:51776704-51776704 6:51911906-51911906
37 PKHD1 NM_138694.4(PKHD1):c.1A>G (p.Met1Val)SNV Pathogenic 550469 rs376987651 6:51949731-51949731 6:52084933-52084933
38 PKHD1 NM_138694.4(PKHD1):c.4417C>T (p.Gln1473Ter)SNV Pathogenic 556021 rs1554198717 6:51890191-51890191 6:52025393-52025393
39 PKHD1 NM_138694.4(PKHD1):c.1068dup (p.Asn357Ter)duplication Pathogenic 551993 rs1554219449 6:51927366-51927367 6:52062568-52062569
40 PKHD1 NM_138694.4(PKHD1):c.6029del (p.Gln2010fs)deletion Pathogenic 577036 rs1561920869 6:51799000-51799000 6:51934202-51934202
41 PKHD1 NM_138694.4(PKHD1):c.5953del (p.Ala1985fs)deletion Pathogenic 574622 rs1561921358 6:51799076-51799076 6:51934278-51934278
42 PKHD1 NM_138694.4(PKHD1):c.9719G>A (p.Arg3240Gln)SNV Pathogenic 572902 rs146649803 6:51612695-51612695 6:51747897-51747897
43 PKHD1 NM_138694.4(PKHD1):c.11074C>T (p.Arg3692Ter)SNV Pathogenic 593691 rs769559267 6:51523850-51523850 6:51659052-51659052
44 PKHD1 NM_138694.4(PKHD1):c.383del (p.Thr128fs)deletion Pathogenic 594678 rs868562051 6:51944705-51944705 6:52079907-52079907
45 PKHD1 NM_138694.4(PKHD1):c.4485del (p.Ser1496fs)deletion Pathogenic 627590 rs1325403863 6:51890123-51890123 6:52025325-52025325
46 PKHD1 NM_138694.4(PKHD1):c.10765C>T (p.Gln3589Ter)SNV Pathogenic 633362 rs780182068 6:51524159-51524159 6:51659361-51659361
47 PKHD1 NM_138694.4(PKHD1):c.8642+1G>ASNV Pathogenic 633352 rs1485161784 6:51637499-51637499 6:51772701-51772701
48 PKHD1 NM_138694.4(PKHD1):c.8798-2A>TSNV Pathogenic 635497 6:51618153-51618153 6:51753355-51753355
49 PKHD1 NM_138694.4(PKHD1):c.3907del (p.Val1303fs)deletion Pathogenic 637052 6:51890701-51890701 6:52025903-52025903
50 PKHD1 NM_138694.4(PKHD1):c.10126del (p.Ala3376fs)deletion Pathogenic 653999 6:51609213-51609213 6:51744415-51744415

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

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
11.31 PIK3C2A HNF1B HNF1A
2 10.44 LGALS3 KIF3A IFT88
3 10.07 PRKCSH LGALS3

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 cytoplasm GO:0005737 10.3 TSC2 PRKD1 PKHD1 PKD2 PKD1 PIK3C2A
2 centrosome GO:0005813 9.83 PKHD1 NEK9 NEK8 KIF3A IFT88
3 motile cilium GO:0031514 9.67 PKD2 PKD1 KIF3A IFT88
4 ciliary basal body GO:0036064 9.62 PKHD1 PKD2 IFT88 DZIP1L
5 cell projection GO:0042995 9.56 PKHD1 PKD2 PKD1 NEK8 KIF3A INVS
6 cation channel complex GO:0034703 9.4 PKD2 PKD1
7 ciliary inversin compartment GO:0097543 9.26 NEK8 INVS
8 cilium GO:0005929 9.23 PKHD1 PKD2 PKD1 NEK8 KIF3A INVS
9 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 20)
# Name GO ID Score Top Affiliating Genes
1 cilium assembly GO:0060271 9.81 PKHD1 KIF3A IFT88 DZIP1L
2 heart development GO:0007507 9.77 TSC2 PKD2 PKD1 NEK8 KIF3A
3 determination of left/right symmetry GO:0007368 9.71 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 positive regulation of transcription initiation from RNA polymerase II promoter GO:0060261 9.59 HNF1B HNF1A
7 protein heterotetramerization GO:0051290 9.58 PKD2 PKD1
8 negative regulation of endocytosis GO:0045806 9.58 PRKD1 LGALS3
9 placenta blood vessel development GO:0060674 9.57 PKD2 PKD1
10 detection of mechanical stimulus GO:0050982 9.56 PKD2 PKD1
11 cytoplasmic sequestering of transcription factor GO:0042994 9.55 PKD2 PKD1
12 regulation of calcium ion import GO:0090279 9.52 PKD2 EGF
13 nitrogen compound metabolic process GO:0006807 9.5 SEC63 PRKCSH PKD1
14 metanephric ascending thin limb development GO:0072218 9.48 PKD2 PKD1
15 cell-cell signaling by wnt GO:0198738 9.43 PKD2 PKD1
16 mesonephric tubule development GO:0072164 9.43 PKD2 PKD1 HNF1B
17 kidney development GO:0001822 9.43 PKHD1 PKD2 PKD1 KIF3A IFT88 HNF1B
18 regulation of pronephros size GO:0035565 9.4 HNF1B HNF1A
19 mesonephric duct development GO:0072177 9.33 PKD2 PKD1 HNF1B
20 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 Wnt-activated receptor activity GO:0042813 8.96 PKD1 EGF

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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
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68 SNOMED-CT via HPO
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