PKD4
MCID: PLY170
MIFTS: 66

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

Categories: Genetic diseases, Liver diseases, Nephrological diseases, Rare diseases, Reproductive diseases, Respiratory 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 6
Autosomal Recessive Polycystic Kidney Disease 12 20 58 29 6 15 70
Arpkd 57 12 25 20 72 54
Polycystic Kidney Disease, Autosomal Recessive 57 25 72
Polycystic Kidney and Hepatic Disease 1 57 12 72
Pkhd1 57 12 72
Polycystic Kidney Disease 4 with or Without Hepatic Disease 57 72
Polycystic Kidney Disease, Infantile, Type I 57 12
Polycystic Kidney, Autosomal Recessive 44 32
Pkd4 57 72
Polycystic Kidney Disease 4, with or Without Polycystic Liver Disease 72
Kidney, Polycystic, Disease, Type 4, with/without Hepatic Disease 39
Polycystic Kidney Disease 4, with or Without Hepatic Disease 57
Polycystic Kidney Disease, Autosomal Recessive; Arpkd 57
Polycystic Kidney Disease 3, Autosomal Dominant 70
Polycystic Kidney and Hepatic Disease 1; Pkhd1 57
Infantile Polycystic Kidney Disease Type I 72
Polycystic Kidney Disease, Infantile Type 20
Pkd3, Formerly 57
Arpkd/chf 25
Ar-Pkd 58
Pkd3 72

Characteristics:

Orphanet epidemiological data:

58
autosomal recessive polycystic kidney disease
Inheritance: Autosomal recessive; Prevalence: 1-9/100000 (Europe); Age of onset: Childhood;

OMIM®:

57 (Updated 20-May-2021)
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:
Onset and clinical course neonatal death
Inheritance autosomal recessive inheritance


GeneReviews:

25
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


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

GARD : 20 Autosomal recessive polycystic kidney disease (ARPKD) is a genetic condition that is characterized by the growth of cysts in the kidneys (which lead to kidney failure ) and liver and problems in other organs, such as the blood vessels in the brain and heart. The severity varies from person to person. The signs of ARPKD frequently begin before birth, so it is often called "infantile PKD" but some people do not develop symptoms until later in childhood or even adulthood. Children born with ARPKD often, but not always, develop kidney failure before reaching adulthood; babies with the worst cases die hours or days after birth due to respiratory difficulties or respiratory failure. Liver scarring occurs in all patients. The condition is caused by a mutation in the PKHD1 gene and is inherited in an autosomal recessive manner. Some symptoms of the condition may be controlled by medicines, antibiotics, healthy diet, and growth hormones.

MalaCards based summary : Polycystic Kidney Disease 4 with or Without Polycystic Liver Disease, also known as autosomal recessive polycystic kidney disease, is related to polycystic liver disease and renal-hepatic-pancreatic dysplasia. An important gene associated with Polycystic Kidney Disease 4 with or Without Polycystic Liver Disease is PKHD1 (PKHD1 Ciliary IPT Domain Containing Fibrocystin/Polyductin), and among its related pathways/superpathways are Organelle biogenesis and maintenance and Type II diabetes mellitus. The drugs Tolvaptan and Vasopressins have been mentioned in the context of this disorder. Affiliated tissues include kidney, liver and lung, and related phenotypes are hypertension and polycystic kidney dysplasia

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

OMIM® : 57 PKD4 is an autosomal recessive polycystic kidney disease (ARPKD) characterized by enlarged, echogenic kidneys with fusiform dilatation of the collecting ducts. Most patients progress to end-stage renal disease (ESRD), but at varying ages. Patients also have liver disease consisting of dilated biliary ducts, congenital hepatic fibrosis (CHF), and portal hypertension (Caroli disease). The most typical disease expression occurs in neonates and includes a history of oligohydramnios, massively enlarged kidneys, and the 'Potter' sequence with pulmonary hypoplasia that leads to respiratory insufficiency and perinatal death in approximately 30% of affected newborns (summary by Hartung and Guay-Woodford, 2014). For a discussion of genetic heterogeneity of polycystic kidney disease, see PKD1 (173900). (263200) (Updated 20-May-2021)

UniProtKB/Swiss-Prot : 72 Polycystic kidney disease 4, with or without polycystic liver disease: A severe form of polycystic kidney disease affecting the kidneys and, in some cases, the hepatic biliary tract. The clinical spectrum is widely variable, with most cases presenting during infancy. The fetal phenotypic features classically include enlarged and echogenic kidneys, as well as oligohydramnios secondary to a poor urine output. Up to 50% of the affected neonates die shortly after birth, as a result of severe pulmonary hypoplasia and secondary respiratory insufficiency. In the subset that survives the perinatal period, morbidity and mortality are mainly related to severe systemic hypertension, renal insufficiency, and portal hypertension due to portal-tract fibrosis. PKD4 inheritance is autosomal recessive.

GeneReviews: NBK1326

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 149)
# Related Disease Score Top Affiliating Genes
1 polycystic liver disease 32.3 TSC2 SEC63 PRKD1 PRKCSH PKHD1 PKD2
2 renal-hepatic-pancreatic dysplasia 32.2 PKHD1 NEK8 INVS
3 polycystic liver disease 1 with or without kidney cysts 32.0 TSC2 SEC63 PRKCSH PKHD1 PKD2 PKD1
4 orthostatic intolerance 31.9 SEC63 PRKCSH PKHD1 PKD2 PKD1
5 kartagener syndrome 31.9 PKHD1 PKD2 PKD1 NEK8 KIF3A INVS
6 meckel syndrome, type 1 31.8 PKHD1 PKD2 PKD1 NEK8 KIF3A INVS
7 bardet-biedl syndrome 31.8 PKHD1 PKD2 PKD1 NEK8 KIF3A INVS
8 polycystic kidney disease 2 with or without polycystic liver disease 31.8 SEC63 PRKD1 PRKCSH PKHD1 PKD2 PKD1
9 retinitis pigmentosa 31.7 SEC63 PKHD1 PKD2 PKD1 NEK8 KIF3A
10 kidney disease 31.5 TSC2 PKHD1 PKD2 PKD1 NEK8 IFT88
11 congenital hepatic fibrosis 31.3 PKHD1 PKD1
12 end stage renal disease 31.1 PKD2 PKD1 NEK8 INVS
13 liver disease 31.0 SEC63 PRKCSH PKHD1 PKD2 PKD1
14 autosomal dominant polycystic kidney disease 30.8 TSC2 SEC63 PRKD1 PRKCSH PKHD1 PKD2
15 oligohydramnios 30.8 PKHD1 INVS HNF1B
16 caroli disease 30.7 SEC63 PRKCSH PKHD1 PKD2 PKD1 INVS
17 cystic kidney disease 30.6 TSC2 SEC63 PRKD1 PRKCSH PKHD1 PKD2
18 polycystic kidney disease 30.6 TSC2 PRKD1 PRKCSH PLXNC1 PKHD1 PKD2
19 nephronophthisis 2 30.4 PKHD1 PKD2 PKD1 NEK8 KIF3A INVS
20 polycystic kidney disease 1 with or without polycystic liver disease 30.4 TSC2 SEC63 PRKD1 PRKCSH PKHD1 PKD2
21 nephronophthisis 30.3 PRKD1 PKHD1 PKD2 PKD1 NEK8 KIF3A
22 joubert syndrome 1 30.3 SEC63 PRKCSH PKHD1 PKD2 PKD1 NEK8
23 gillessen-kaesbach-nishimura syndrome 11.5
24 polycystic kidney disease 3 with or without polycystic liver disease 11.4
25 colorectal cancer 11.1
26 polycystic kidney disease 4 10.9
27 polycystic kidney disease 5 10.9
28 potter's syndrome 10.9
29 homocystinuria due to cystathionine beta-synthase deficiency 10.8
30 retinitis pigmentosa 2 10.8
31 suppurative cholangitis 10.8
32 hepatic vascular disease 10.8
33 homocystinuria caused by cystathionine beta-synthase deficiency 10.8
34 multicystic dysplastic kidney 10.5 PKD2 PKD1 LGALS3
35 polycystic kidney disease, infantile severe, with tuberous sclerosis 10.5 TSC2 PKD1
36 cranioectodermal dysplasia 10.5 KIF3A INVS IFT88 DYNC2H1
37 contractures, pterygia, and spondylocarpotarsal fusion syndrome 1a 10.5 TSC2 PRKD1 PKD2 PKD1 HNF1A
38 bardet-biedl syndrome 6 10.4 KIF3A INVS IFT88
39 ellis-van creveld syndrome 10.4 KIF3A INVS IFT88 DYNC2H1
40 senior-loken syndrome 1 10.4 NEK8 KIF3A INVS IFT88
41 aneurysm 10.4
42 autosomal genetic disease 10.4 TSC2 PKD2 PKD1 EGF
43 asphyxiating thoracic dystrophy 10.4 PKD2 NEK8 KIF3A INVS IFT88 DYNC2H1
44 nephronophthisis-like nephropathy 1 10.4 SEC63 PRKCSH
45 visceral heterotaxy 10.4 PKD2 PKD1 NEK8 KIF3A INVS IFT88
46 physical disorder 10.4 INVS IFT88 DYNC2H1
47 nephronophthisis 13 10.4 NEK8 INVS
48 maturity-onset diabetes of the young, type 6 10.4 HNF1B HNF1A
49 primary ciliary dyskinesia 10.4 PKD2 PKD1 NEK8 KIF3A INVS IFT88
50 fundus dystrophy 10.4 PKD2 NEK8 KIF3A INVS IFT88 EGF

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 59)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypertension 58 31 hallmark (90%) Very frequent (99-80%) HP:0000822
2 polycystic kidney dysplasia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000113
3 enlarged kidney 58 31 hallmark (90%) Very frequent (99-80%) HP:0000105
4 periportal fibrosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0001405
5 splenomegaly 58 31 frequent (33%) Frequent (79-30%) HP:0001744
6 portal hypertension 58 31 frequent (33%) Frequent (79-30%) HP:0001409
7 growth delay 58 31 frequent (33%) Frequent (79-30%) HP:0001510
8 hypersplenism 58 31 frequent (33%) Frequent (79-30%) HP:0001971
9 hyponatremia 58 31 frequent (33%) Frequent (79-30%) HP:0002902
10 low levels of vitamin d 58 31 frequent (33%) Frequent (79-30%) HP:0100512
11 esophageal varix 58 31 frequent (33%) Frequent (79-30%) HP:0002040
12 fat malabsorption 58 31 frequent (33%) Frequent (79-30%) HP:0002630
13 low levels of vitamin e 58 31 frequent (33%) Frequent (79-30%) HP:0100513
14 low levels of vitamin a 58 31 frequent (33%) Frequent (79-30%) HP:0004905
15 respiratory failure 58 31 frequent (33%) Frequent (79-30%) HP:0002878
16 oligohydramnios 58 31 frequent (33%) Frequent (79-30%) HP:0001562
17 congenital hepatic fibrosis 58 31 frequent (33%) Frequent (79-30%) HP:0002612
18 feeding difficulties 58 31 frequent (33%) Frequent (79-30%) HP:0011968
19 pulmonary hypoplasia 58 31 frequent (33%) Frequent (79-30%) HP:0002089
20 low levels of vitamin k 58 31 frequent (33%) Frequent (79-30%) HP:0011892
21 stage 5 chronic kidney disease 58 31 frequent (33%) Frequent (79-30%) HP:0003774
22 abnormality of the intrahepatic bile duct 58 31 frequent (33%) Frequent (79-30%) HP:0011040
23 increased serum bile acid concentration 58 31 frequent (33%) Frequent (79-30%) HP:0012202
24 biliary hyperplasia 58 31 frequent (33%) Frequent (79-30%) HP:0006560
25 reduced renal corticomedullary differentiation 58 31 frequent (33%) Frequent (79-30%) HP:0005565
26 elevated gamma-glutamyltransferase level 31 frequent (33%) HP:0030948
27 polydipsia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001959
28 ascites 58 31 occasional (7.5%) Occasional (29-5%) HP:0001541
29 thrombocytopenia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001873
30 jaundice 58 31 occasional (7.5%) Occasional (29-5%) HP:0000952
31 gastrointestinal hemorrhage 58 31 occasional (7.5%) Occasional (29-5%) HP:0002239
32 recurrent urinary tract infections 58 31 occasional (7.5%) Occasional (29-5%) HP:0000010
33 recurrent pneumonia 58 31 occasional (7.5%) Occasional (29-5%) HP:0006532
34 hepatoblastoma 58 31 occasional (7.5%) Occasional (29-5%) HP:0002884
35 hepatosplenomegaly 58 31 occasional (7.5%) Occasional (29-5%) HP:0001433
36 oliguria 58 31 occasional (7.5%) Occasional (29-5%) HP:0100520
37 acute kidney injury 58 31 occasional (7.5%) Occasional (29-5%) HP:0001919
38 hypoventilation 58 31 occasional (7.5%) Occasional (29-5%) HP:0002791
39 protein-losing enteropathy 58 31 occasional (7.5%) Occasional (29-5%) HP:0002243
40 cholangitis 58 31 occasional (7.5%) Occasional (29-5%) HP:0030151
41 cognitive impairment 58 31 very rare (1%) Very rare (<4-1%) HP:0100543
42 micrognathia 58 31 very rare (1%) Very rare (<4-1%) HP:0000347
43 low-set ears 58 31 very rare (1%) Very rare (<4-1%) HP:0000369
44 spontaneous pneumothorax 58 31 very rare (1%) Very rare (<4-1%) HP:0002108
45 depressed nasal ridge 58 31 very rare (1%) Very rare (<4-1%) HP:0000457
46 pancreatic cysts 58 31 very rare (1%) Very rare (<4-1%) HP:0001737
47 cholangiocarcinoma 58 31 very rare (1%) Very rare (<4-1%) HP:0030153
48 abnormality of limbs 58 31 very rare (1%) Very rare (<4-1%) HP:0040064
49 renal insufficiency 58 31 Frequent (79-30%) HP:0000083
50 hepatomegaly 31 HP:0002240

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
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 (Updated 20-May-2021)

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

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased cell migration GR00055-A-3 8.32 PKD1

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

46 (show all 11)
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.35 DYNC2H1 HNF1A HNF1B IFT88 INVS KIF3A
2 cardiovascular system MP:0005385 10.27 DYNC2H1 IFT88 INVS KIF3A LGALS3 NEK8
3 growth/size/body region MP:0005378 10.27 AVPR2 DYNC2H1 DZIP1L EGF HNF1A HNF1B
4 homeostasis/metabolism MP:0005376 10.25 AVPR2 DYNC2H1 HNF1A HNF1B IFT88 INVS
5 digestive/alimentary MP:0005381 10.23 DYNC2H1 DZIP1L EGF HNF1A IFT88 INVS
6 mortality/aging MP:0010768 10.11 AVPR2 DYNC2H1 DZIP1L HNF1A HNF1B IFT88
7 endocrine/exocrine gland MP:0005379 10.1 DZIP1L EGF HNF1A HNF1B IFT88 INVS
8 embryo MP:0005380 10.09 DYNC2H1 HNF1B IFT88 INVS KIF3A PIK3C2A
9 liver/biliary system MP:0005370 10.03 DZIP1L HNF1A HNF1B IFT88 INVS LGALS3
10 renal/urinary system MP:0005367 9.89 AVPR2 DYNC2H1 DZIP1L HNF1A HNF1B IFT88
11 respiratory system MP:0005388 9.28 DYNC2H1 IFT88 INVS KIF3A LGALS3 NEK8

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

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

(show all 6)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Tolvaptan Approved Phase 3 150683-30-0 216237
2 Vasopressins Phase 3
3 Hormones Phase 3
4 Arginine Vasopressin Phase 3
5
XL647 Phase 1 168626-94-6 5712
6 Protein Kinase Inhibitors Phase 1

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 A Phase 3b Multicenter Open-label Trial of the Safety, Tolerability, and Efficacy of Tolvaptan in Infants and Children 28 Days to Less Than 12 Weeks of Age With Autosomal Recessive Polycystic Kidney Disease (ARPKD) Not yet recruiting NCT04786574 Phase 3 Tolvaptan (OPC-41061)
2 A Phase 3b Multicenter Open-label Trial of the Safety, Tolerability, and Efficacy of Tolvaptan in Infants and Children 28 Days to Less Than 18 Years of Age With Autosomal Recessive Polycystic Kidney Disease (ARPKD) Not yet recruiting NCT04782258 Phase 3 Tolvaptan Suspension;Tolvaptan Tablets
3 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
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

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, Lung, Breast, Fetal Liver, Thyroid, Prostate

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 731)
# Title Authors PMID Year
1
Clinical and molecular characterization defines a broadened spectrum of autosomal recessive polycystic kidney disease (ARPKD). 25 61 57 6 54
16523049 2006
2
Clinical consequences of PKHD1 mutations in 164 patients with autosomal-recessive polycystic kidney disease (ARPKD). 25 57 6 54 61
15698423 2005
3
The gene mutated in autosomal recessive polycystic kidney disease encodes a large, receptor-like protein. 54 61 57 25 6
11919560 2002
4
Spectrum of mutations in the gene for autosomal recessive polycystic kidney disease (ARPKD/PKHD1). 6 57 61 54
12506140 2003
5
PKHD1 sequence variations in 78 children and adults with autosomal recessive polycystic kidney disease and congenital hepatic fibrosis. 25 6 54 61
19914852 2010
6
PKHD1 mutations in autosomal recessive polycystic kidney disease (ARPKD). 6 54 61 25
15108277 2004
7
Cellular and subcellular localization of the ARPKD protein; fibrocystin is expressed on primary cilia. 61 6 54 25
12925574 2003
8
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. 61 6 25 54
11898128 2002
9
Expanding the mutation spectrum in 130 probands with ARPKD: identification of 62 novel PKHD1 mutations by sanger sequencing and MLPA analysis. 25 6 61
27225849 2016
10
Autosomal recessive polycystic kidney disease: a hepatorenal fibrocystic disorder with pleiotropic effects. 57 25 61
25113295 2014
11
Combined liver-kidney transplantation for children with autosomal recessive polycystic kidney disease (ARPKD): indication and outcome. 61 25 6
23582048 2013
12
Identification of PKHD1 multiexon deletions using multiplex ligation-dependent probe amplification and quantitative polymerase chain reaction. 61 25 6
20575693 2010
13
Correlation of kidney function, volume and imaging findings, and PKHD1 mutations in 73 patients with autosomal recessive polycystic kidney disease. 6 25 61
20413436 2010
14
Autosomal recessive polycystic kidney disease: the clinical experience in North America. 25 61 57
12728091 2003
15
Variable expression of autosomal recessive polycystic kidney disease and congenital hepatic fibrosis within a family. 25 57 61
3377007 1988
16
Genotype-phenotype correlations in fetuses and neonates with autosomal recessive polycystic kidney disease. 61 54 6
19940839 2010
17
Activation of the AKT/mTOR pathway in autosomal recessive polycystic kidney disease (ARPKD). 6 61 54
19176689 2009
18
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
19
Multi-exon deletions of the PKHD1 gene cause autosomal recessive polycystic kidney disease (ARPKD). 6 54 61
16199545 2005
20
Algorithm for efficient PKHD1 mutation screening in autosomal recessive polycystic kidney disease (ARPKD). 54 61 6
15706593 2005
21
Haplotype analysis improves molecular diagnostics of autosomal recessive polycystic kidney disease. 6 61 54
15696446 2005
22
PKHD1 mutations in families requesting prenatal diagnosis for autosomal recessive polycystic kidney disease (ARPKD). 54 6 61
15108281 2004
23
Molecular genetics of autosomal recessive polycystic kidney disease. 6 54 61
14741187 2004
24
Caroli's disease: prenatal diagnosis, postnatal outcome and genetic analysis. 6 54 61
14971004 2004
25
A complete mutation screen of PKHD1 in autosomal-recessive polycystic kidney disease (ARPKD) pedigrees. 54 61 6
12846734 2003
26
Polycystic disease of kidney and liver presenting in childhood. 57 25
5097134 1971
27
Possible PKHD1 Hot-spot Mutations Related to Early Kidney Function Failure or Hepatofibrosis in Chinese Children with ARPKD: A Retrospective Single Center Cohort Study and Literature Review. 6 61
33123899 2020
28
Initial experience from a renal genetics clinic demonstrates a distinct role in patient management. 61 6
32203225 2020
29
Comprehensive genetic testing in children with a clinical diagnosis of ARPKD identifies phenocopies. 6 61
29956005 2018
30
[Genetic diagnosis of Caroli syndrome with autosomal recessive polycystic kidney disease: a case report and literature review]. 6 61
29643536 2018
31
Renal histology and MRI findings in a 37-year-old Japanese patient with autosomal recessive polycystic kidney diseaseā€©. 61 6
28933340 2017
32
[Analysis of PKHD1 gene mutation in a family affected with infantile polycystic kidney disease]. 6 61
27577217 2016
33
Genetic analysis of the PKHD1 gene with long-rang PCR sequencing. 6 61
27752906 2016
34
An Ashkenazi founder mutation in the PKHD1 gene. 61 6
26721323 2016
35
Compound heterozygous PKHD1 variants cause a wide spectrum of ductal plate malformations. 6 61
26385851 2015
36
Molecular genetic analysis of PKHD1 by next-generation sequencing in Czech families with autosomal recessive polycystic kidney disease. 6 61
26695994 2015
37
Case Report: Whole-exome analysis of a child with polycystic kidney disease and ventriculomegaly. 61 6
25966130 2015
38
A labor and cost effective next generation sequencing of PKHD1 in autosomal recessive polycystic kidney disease patients. 6 61
25701400 2015
39
Clinical and genetic characterization of a founder PKHD1 mutation in Afrikaners with ARPKD. 61 6
25193386 2015
40
Intragenic motifs regulate the transcriptional complexity of Pkhd1/PKHD1. 6 61
24984783 2014
41
Clinical characteristics and mutation analysis of three Chinese children with autosomal recessive polycystic kidney disease. 6 61
25124979 2014
42
Cost-effective PKHD1 genetic testing for autosomal recessive polycystic kidney disease. 61 6
24162162 2014
43
Novel Mutation in the PKHD1 Gene Diagnosed Prenatally in a Fetus with Autosomal Recessive Polycystic Kidney Disease. 6 61
25114813 2014
44
Clinical and pathological features of a neonate with autosomal recessive polycystic kidney disease caused by a nonsense PKHD1 mutation. 6 61
23389334 2013
45
Hepatorenal findings in obligate heterozygotes for autosomal recessive polycystic kidney disease. 61 6
21945273 2011
46
Mutations in multiple PKD genes may explain early and severe polycystic kidney disease. 6 61
22034641 2011
47
Germline PKHD1 mutations are protective against colorectal cancer. 6 61
21274727 2011
48
The mTOR pathway is activated in human autosomal-recessive polycystic kidney disease. 6 61
20460933 2010
49
Long-lasting arrest of murine polycystic kidney disease with CDK inhibitor roscovitine. 57 61
17122773 2006
50
G8: a novel domain associated with polycystic kidney disease and non-syndromic hearing loss. 61 6
16632497 2006

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 1282)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 PKHD1 NM_138694.4(PKHD1):c.4481del (p.Asn1494fs) Deletion Pathogenic 996129 GRCh37: 6:51890127-51890127
GRCh38: 6:52025329-52025329
2 PKHD1 NM_138694.4(PKHD1):c.1694-2A>G SNV Pathogenic 997473 GRCh37: 6:51920529-51920529
GRCh38: 6:52055731-52055731
3 PKHD1 NM_138694.4(PKHD1):c.11281C>T (p.Gln3761Ter) SNV Pathogenic 1030192 GRCh37: 6:51513912-51513912
GRCh38: 6:51649114-51649114
4 PKHD1 NM_138694.4(PKHD1):c.11830del (p.His3944fs) Deletion Pathogenic 1030194 GRCh37: 6:51484274-51484274
GRCh38: 6:51619476-51619476
5 PKHD1 NM_138694.4(PKHD1):c.4991C>T (p.Ser1664Phe) SNV Pathogenic 4109 rs28937907 GRCh37: 6:51889617-51889617
GRCh38: 6:52024819-52024819
6 PKHD1 NM_138694.4(PKHD1):c.9053C>T (p.Ser3018Phe) SNV Pathogenic 4110 rs137852945 GRCh37: 6:51613361-51613361
GRCh38: 6:51748563-51748563
7 PKHD1 NM_138694.4(PKHD1):c.10412T>G (p.Val3471Gly) SNV Pathogenic 4115 rs137852950 GRCh37: 6:51524512-51524512
GRCh38: 6:51659714-51659714
8 PKHD1 NM_138694.4(PKHD1):c.8303-1G>A SNV Pathogenic 188368 rs786204241 GRCh37: 6:51656172-51656172
GRCh38: 6:51791374-51791374
9 PKHD1 NM_138694.4(PKHD1):c.3761_3762delinsG (p.Ala1254fs) Indel Pathogenic 96398 rs398124484 GRCh37: 6:51890846-51890847
GRCh38: 6:52026048-52026049
10 PKHD1 NM_138694.4(PKHD1):c.711_714del (p.Met238fs) Deletion Pathogenic 188960 rs786204588 GRCh37: 6:51934319-51934322
GRCh38: 6:52069521-52069524
11 PKHD1 NM_138694.4(PKHD1):c.1880T>A (p.Met627Lys) SNV Pathogenic 189098 rs786204696 GRCh37: 6:51918920-51918920
GRCh38: 6:52054122-52054122
12 PKHD1 NM_138694.4(PKHD1):c.930del (p.Thr311fs) Deletion Pathogenic 96442 rs398124501 GRCh37: 6:51929799-51929799
GRCh38: 6:52065001-52065001
13 PKHD1 NM_138694.4(PKHD1):c.2854G>A (p.Gly952Arg) SNV Pathogenic 196052 rs773136605 GRCh37: 6:51907900-51907900
GRCh38: 6:52043102-52043102
14 PKHD1 NM_138694.4(PKHD1):c.2341C>T (p.Arg781Ter) SNV Pathogenic 96387 rs398124478 GRCh37: 6:51913356-51913356
GRCh38: 6:52048558-52048558
15 PKHD1 NM_138694.4(PKHD1):c.5895dup (p.Leu1966fs) Duplication Pathogenic 167486 rs746838237 GRCh37: 6:51824680-51824681
GRCh38: 6:51959882-51959883
16 PKHD1 NM_138694.4(PKHD1):c.9689del (p.Asp3230fs) Deletion Pathogenic 96444 rs398124502 GRCh37: 6:51612725-51612725
GRCh38: 6:51747927-51747927
17 PKHD1 NM_138694.4(PKHD1):c.7560dup (p.Ala2521fs) Duplication Pathogenic 216135 rs863224528 GRCh37: 6:51732833-51732834
GRCh38: 6:51868035-51868036
18 PKHD1 NM_138694.3(PKHD1):c.8108-?_8173+?del Deletion Pathogenic 220428 GRCh37:
GRCh38:
19 PKHD1 NM_138694.4(PKHD1):c.8870T>C (p.Ile2957Thr) SNV Pathogenic 357423 rs760222236 GRCh37: 6:51618079-51618079
GRCh38: 6:51753281-51753281
20 PKHD1 NM_138694.4(PKHD1):c.4141del (p.Val1381fs) Deletion Pathogenic 371324 rs778537772 GRCh37: 6:51890467-51890467
GRCh38: 6:52025669-52025669
21 PKHD1 NM_138694.4(PKHD1):c.6907A>T (p.Ile2303Phe) SNV Pathogenic 406889 rs751084512 GRCh37: 6:51768484-51768484
GRCh38: 6:51903686-51903686
22 PKD2 NM_000297.4(PKD2):c.670del (p.Leu224fs) Deletion Pathogenic 434013 rs1553924173 GRCh37: 4:88940684-88940684
GRCh38: 4:88019532-88019532
23 PKD1 NM_001009944.2:c.6468-?_10050+?del Deletion Pathogenic 433593 GRCh37: 16:2149645-2158700
GRCh38:
24 PKD1 NM_001009944.3(PKD1):c.6987_6993GCTGGCG[3] (p.Val2334fs) Microsatellite Pathogenic 433976 rs1555453872 GRCh37: 16:2157948-2157949
GRCh38: 16:2107947-2107948
25 PKHD1 NM_138694.4(PKHD1):c.1233+99_1694-441del Deletion Pathogenic 433027 GRCh37: 6:51920968-51924627
GRCh38: 6:52056170-52059829
26 PKD1 NM_001009944.2:c.8949-?_9397+?del Deletion Pathogenic 433595 GRCh37: 16:2152062-2152634
GRCh38:
27 PKHD1 NM_138694.4(PKHD1):c.7351-1G>C SNV Pathogenic 438689 rs1554282540 GRCh37: 6:51735438-51735438
GRCh38: 6:51870640-51870640
28 PKHD1 NM_138694.4(PKHD1):c.10443del (p.Leu3481fs) Deletion Pathogenic 458584 rs1554183559 GRCh37: 6:51524481-51524481
GRCh38: 6:51659683-51659683
29 PKHD1 NM_138694.4(PKHD1):c.11612G>A (p.Trp3871Ter) SNV Pathogenic 458588 rs1554167673 GRCh37: 6:51497416-51497416
GRCh38: 6:51632618-51632618
30 PKHD1 NM_138694.4(PKHD1):c.2811G>A (p.Trp937Ter) SNV Pathogenic 458592 rs1344820986 GRCh37: 6:51908433-51908433
GRCh38: 6:52043635-52043635
31 PKHD1 NM_138694.4(PKHD1):c.10174C>T (p.Gln3392Ter) SNV Pathogenic 488579 rs201082169 GRCh37: 6:51524750-51524750
GRCh38: 6:51659952-51659952
32 PKHD1 NM_138694.4(PKHD1):c.4295del (p.Val1432fs) Deletion Pathogenic 458596 rs1246693314 GRCh37: 6:51890313-51890313
GRCh38: 6:52025515-52025515
33 PKHD1 NM_138694.4(PKHD1):c.5411del (p.Arg1804fs) Deletion Pathogenic 458602 rs1554194574 GRCh37: 6:51882397-51882397
GRCh38: 6:52017599-52017599
34 PKHD1 NM_138694.4(PKHD1):c.9646C>T (p.Gln3216Ter) SNV Pathogenic 528297 rs758732107 GRCh37: 6:51612768-51612768
GRCh38: 6:51747970-51747970
35 PKHD1 NM_138694.4(PKHD1):c.3463C>T (p.Gln1155Ter) SNV Pathogenic 528301 rs1554200780 GRCh37: 6:51893051-51893051
GRCh38: 6:52028253-52028253
36 PKHD1 NM_138694.4(PKHD1):c.4352_4356delinsAAGGGGTCA (p.Pro1451fs) Indel Pathogenic 528302 rs1554198780 GRCh37: 6:51890252-51890256
GRCh38: 6:52025454-52025458
37 PKHD1 NM_138694.4(PKHD1):c.5323C>T (p.Arg1775Ter) SNV Pathogenic 550139 rs770522674 GRCh37: 6:51887656-51887656
GRCh38: 6:52022858-52022858
38 PKHD1 NM_138694.4(PKHD1):c.1A>G (p.Met1Val) SNV Pathogenic 550469 rs376987651 GRCh37: 6:51949731-51949731
GRCh38: 6:52084933-52084933
39 PKHD1 NM_138694.4(PKHD1):c.1068dup (p.Asn357Ter) Duplication Pathogenic 551993 rs1554219449 GRCh37: 6:51927366-51927367
GRCh38: 6:52062568-52062569
40 PKHD1 NM_138694.4(PKHD1):c.10856del (p.Lys3619fs) Deletion Pathogenic 552098 rs1554183235 GRCh37: 6:51524068-51524068
GRCh38: 6:51659270-51659270
41 PKHD1 NM_138694.4(PKHD1):c.4417C>T (p.Gln1473Ter) SNV Pathogenic 556021 rs1554198717 GRCh37: 6:51890191-51890191
GRCh38: 6:52025393-52025393
42 PKHD1 NM_138694.4(PKHD1):c.7122del (p.Phe2374fs) Deletion Pathogenic 556905 rs1554289495 GRCh37: 6:51750758-51750758
GRCh38: 6:51885960-51885960
43 PKHD1 NM_138694.4(PKHD1):c.6383del (p.Ile2127_Leu2128insTer) Deletion Pathogenic 557288 rs1405067373 GRCh37: 6:51776704-51776704
GRCh38: 6:51911906-51911906
44 PKHD1 NM_138694.4(PKHD1):c.4292G>A (p.Cys1431Tyr) SNV Pathogenic 287201 rs753307105 GRCh37: 6:51890316-51890316
GRCh38: 6:52025518-52025518
45 PKHD1 NM_138694.4(PKHD1):c.6029del (p.Gln2010fs) Deletion Pathogenic 577036 rs1561920869 GRCh37: 6:51799000-51799000
GRCh38: 6:51934202-51934202
46 PKHD1 NM_138694.4(PKHD1):c.9719G>A (p.Arg3240Gln) SNV Pathogenic 572902 rs146649803 GRCh37: 6:51612695-51612695
GRCh38: 6:51747897-51747897
47 PKHD1 NM_138694.4(PKHD1):c.5953del (p.Ala1985fs) Deletion Pathogenic 574622 rs1561921358 GRCh37: 6:51799076-51799076
GRCh38: 6:51934278-51934278
48 PKHD1 NM_138694.4(PKHD1):c.4485del (p.Ser1496fs) Deletion Pathogenic 627590 rs1325403863 GRCh37: 6:51890123-51890123
GRCh38: 6:52025325-52025325
49 PKHD1 NM_138694.4(PKHD1):c.10637del (p.Val3546fs) Deletion Pathogenic 279874 rs770461067 GRCh37: 6:51524287-51524287
GRCh38: 6:51659489-51659489
50 PKHD1 NM_138694.4(PKHD1):c.8642+1G>A SNV Pathogenic 633352 rs1485161784 GRCh37: 6:51637499-51637499
GRCh38: 6:51772701-51772701

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

72 (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 rs128852139
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
12.28 PKD2 PKD1 KIF3A IFT88 DYNC2H1
2
Show member pathways
11.48 PIK3C2A HNF1B HNF1A
3 10.78 LGALS3 KIF3A IFT88
4 10.41 KIF3A IFT88 DYNC2H1
5 10.37 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:

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 cytoplasm GO:0005737 10.34 TSC2 PRKD1 PKHD1 PKD2 PKD1 PIK3C2A
2 cytoskeleton GO:0005856 10.02 PKHD1 NEK8 KIF3A INVS IFT88 DZIP1L
3 Golgi apparatus GO:0005794 9.92 TSC2 PRKD1 PKHD1 PKD2 PKD1 PIK3C2A
4 ciliary basal body GO:0036064 9.73 PKHD1 PKD2 IFT88 DZIP1L
5 axoneme GO:0005930 9.69 KIF3A DZIP1L DYNC2H1
6 motile cilium GO:0031514 9.67 PKD2 PKD1 IFT88 DYNC2H1
7 cell projection GO:0042995 9.61 PKHD1 PKD2 PKD1 NEK8 KIF3A INVS
8 ciliary tip GO:0097542 9.58 KIF3A IFT88 DYNC2H1
9 cation channel complex GO:0034703 9.46 PKD2 PKD1
10 cilium GO:0005929 9.28 PKHD1 PKD2 PKD1 NEK8 KIF3A INVS
11 ciliary inversin compartment GO:0097543 9.26 NEK8 INVS
12 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 21)
# Name GO ID Score Top Affiliating Genes
1 determination of left/right symmetry GO:0007368 9.72 PKD2 NEK8 DYNC2H1
2 heart development GO:0007507 9.72 TSC2 PKD2 PKD1 NEK8 DYNC2H1
3 intraciliary transport involved in cilium assembly GO:0035735 9.63 KIF3A IFT88 DYNC2H1
4 branching morphogenesis of an epithelial tube GO:0048754 9.61 PKHD1 PKD1 EGF
5 positive regulation of transcription initiation from RNA polymerase II promoter GO:0060261 9.6 HNF1B HNF1A
6 negative regulation of endocytosis GO:0045806 9.59 PRKD1 LGALS3
7 protein heterotetramerization GO:0051290 9.58 PKD2 PKD1
8 placenta blood vessel development GO:0060674 9.58 PKD2 PKD1
9 detection of mechanical stimulus GO:0050982 9.57 PKD2 PKD1
10 genitalia development GO:0048806 9.56 PKD1 HNF1B
11 cilium assembly GO:0060271 9.55 PKHD1 KIF3A IFT88 DZIP1L DYNC2H1
12 regulation of calcium ion import GO:0090279 9.54 PKD2 EGF
13 cytoplasmic sequestering of transcription factor GO:0042994 9.52 PKD2 PKD1
14 mesonephric tubule development GO:0072164 9.51 PKD2 PKD1
15 metanephric ascending thin limb development GO:0072218 9.49 PKD2 PKD1
16 mesonephric duct development GO:0072177 9.48 PKD2 PKD1
17 nitrogen compound metabolic process GO:0006807 9.43 SEC63 PRKCSH PKD1
18 kidney development GO:0001822 9.43 PKHD1 PKD2 PKD1 IFT88 HNF1B DYNC2H1
19 cell-cell signaling by wnt GO:0198738 9.4 PKD2 PKD1
20 regulation of pronephros size GO:0035565 9.37 HNF1B HNF1A
21 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

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
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
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41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
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50 NCIt
51 NDF-RT
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56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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