PKD1 - polycystin 1, transient receptor potential channel interacting Gene

Also Known as PBP; PC1; Pc-1; TRPP1

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 5310

About PKD1

Cytogenetic location: 16p13.3 Genomic coordinates (GRCh38): 16:2,088,708-2,135,898 (from NCBI)

This gene has 40 transcripts (splice variants), 194 orthologues, 10 paralogues and is associated with 3 phenotypes. Ubiquitous expression in endometrium (RPKM 11.1), fat (RPKM 9.6) and 25 other tissues.

Summary

This gene encodes a member of the polycystin protein family. The encoded glycoprotein contains a large N-terminal extracellular region, multiple transmembrane domains and a cytoplasmic C-tail. It is an integral membrane protein that functions as a regulator of calcium permeable cation channels and intracellular calcium homoeostasis. It is also involved in cell-cell/matrix interactions and may modulate G-protein-coupled signal-transduction pathways. It plays a role in renal tubular development, and mutations in this gene cause autosomal dominant polycystic kidney disease type 1 (ADPKD1). ADPKD1 is characterized by the growth of fluid-filled cysts that replace normal renal tissue and result in end-stage renal failure. Splice variants encoding different isoforms have been noted for this gene. Also, six pseudogenes, closely linked in a known duplicated region on chromosome 16p, have been described. [provided by RefSeq, Oct 2008]

PKD1 Products (12)

mRNA Protein Name
XM_047434211.1 XP_047290167.1 polycystin-1 isoform X6
XM_047434212.1 XP_047290168.1 polycystin-1 isoform X7
XM_047434210.1 XP_047290166.1 polycystin-1 isoform X5
XM_047434213.1 XP_047290169.1 polycystin-1 isoform X9
XM_005255370.4 XP_005255427.1 polycystin-1 isoform X10
XM_011522529.3 XP_011520831.1 polycystin-1 isoform X4
NM_000296.4 NP_000287.4 polycystin-1 isoform 2 precursor
XM_047434209.1 XP_047290165.1 polycystin-1 isoform X2
XM_011522537.2 XP_011520839.1 polycystin-1 isoform X8
XM_011522528.4 XP_011520830.1 polycystin-1 isoform X3
NM_001009944.3 NP_001009944.3 polycystin-1 isoform 1 precursor
XM_047434208.1 XP_047290164.1 polycystin-1 isoform X1
Molecular Function GO Annotation Evidence Referencias Source
enables Wnt receptor activity IDA
IDA: Inferred from direct assay
27214281 GOA
contributes to calcium channel activity IDA
IDA: Inferred from direct assay
27214281 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
10097141 GOA
enables protein domain specific binding IPI
IPI: Inferred from physical interaction
9171830 GOA
enables protein kinase binding IPI
IPI: Inferred from physical interaction
17980165 GOA
enables transmembrane transporter binding IPI
IPI: Inferred from physical interaction
9192675 GOA
Biological Process GO Annotation Evidence Referencias Source
involved in Wnt signaling pathway IDA
IDA: Inferred from direct assay
27214281 GOA
involved in branching morphogenesis of an epithelial tube IDA
IDA: Inferred from direct assay
12482949 GOA
involved in calcium ion transport IDA
IDA: Inferred from direct assay
27214281 GOA
involved in cartilage development IEP
IEP: Inferred from expression pattern
11891195 GOA
involved in cell surface receptor signaling pathway IDA
IDA: Inferred from direct assay
27214281 GOA
involved in digestive tract development IEP
IEP: Inferred from expression pattern
11891195 GOA
involved in genitalia development IEP
IEP: Inferred from expression pattern
11891195 GOA
involved in heart development IEP
IEP: Inferred from expression pattern
11891195 GOA
involved in lung epithelium development IEP
IEP: Inferred from expression pattern
11891195 GOA
involved in mesonephric duct development IEP
IEP: Inferred from expression pattern
11891195 GOA
involved in mesonephric tubule development IEP
IEP: Inferred from expression pattern
11891195 GOA
involved in metanephric ascending thin limb development IEP
IEP: Inferred from expression pattern
11891195 GOA
involved in metanephric collecting duct development IEP
IEP: Inferred from expression pattern
11891195 GOA
involved in metanephric distal tubule morphogenesis IEP
IEP: Inferred from expression pattern
11891195 GOA
involved in metanephric proximal tubule development IEP
IEP: Inferred from expression pattern
11891195 GOA
involved in mitocytosis IDA
IDA: Inferred from direct assay
37681898 GOA
involved in neural tube development IEP
IEP: Inferred from expression pattern
11891195 GOA
involved in positive regulation of transcription by RNA polymerase II IDA
IDA: Inferred from direct assay
16311606 GOA
involved in protein heterotetramerization IDA
IDA: Inferred from direct assay
30093605 GOA
acts upstream of regulation of G1/S transition of mitotic cell cycle IDA
IDA: Inferred from direct assay
16311606 GOA
acts upstream of or within regulation of proteasomal protein catabolic process IDA
IDA: Inferred from direct assay
23001567 GOA
involved in skin development IEP
IEP: Inferred from expression pattern
11891195 GOA
involved in spinal cord development IEP
IEP: Inferred from expression pattern
11891195 GOA
Cellular Component GO Annotation Evidence Referencias Source
located in basolateral plasma membrane IDA
IDA: Inferred from direct assay
10770959 GOA
part of calcium channel complex IDA
IDA: Inferred from direct assay
27214281 GOA
part of cation channel complex IDA
IDA: Inferred from direct assay
30093605 GOA
located in cilium IDA
IDA: Inferred from direct assay
28154160 GOA
located in extracellular exosome IDA
IDA: Inferred from direct assay
15326289 GOA
located in membrane IDA
IDA: Inferred from direct assay
30093605 GOA
located in migrasome IDA
IDA: Inferred from direct assay
37681898 GOA
located in plasma membrane IDA
IDA: Inferred from direct assay
23001567 GOA
part of polycystin complex IPI
IPI: Inferred from physical interaction
11901144 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

PKD1 Protein Structure

LRRNT

LRRNT: Leucine rich repeat N-terminal domain (32 - 65)

LRR_8

LRR_8: Leucine rich repeat (71 - 126)

WSC

WSC: WSC domain (180 - 252)

PKD

PKD: PKD domain (279 - 344)

Lectin_C

Lectin_C: Lectin C-type domain (426 - 531)

PKD

PKD: PKD domain (942 - 1006)

PKD

PKD: PKD domain (1024 - 1116)

PKD

PKD: PKD domain (1133 - 1202)

PKD

PKD: PKD domain (1221 - 1283)

PKD

PKD: PKD domain (1303 - 1368)

PKD

PKD: PKD domain (1389 - 1455)

PKD

PKD: PKD domain (1473 - 1536)

PKD

PKD: PKD domain (1553 - 1621)

PKD

PKD: PKD domain (1638 - 1708)

PKD

PKD: PKD domain (1723 - 1792)

PKD

PKD: PKD domain (1814 - 1877)

PKD

PKD: PKD domain (1893 - 1961)

PKD

PKD: PKD domain (1982 - 2050)

PKD

PKD: PKD domain (2068 - 2131)

REJ

REJ: REJ domain (2171 - 2613)

GPS

GPS: GPCR proteolysis site, GPS, motif (3012 - 3054)

PLAT

PLAT: PLAT/LH2 domain (3120 - 3223)

PKD_channel

PKD_channel: Polycystin cation channel (3712 - 4112)

  • 0
  • 700
  • 1400
  • 2100
  • 2800
  • 3500
  • 4303 a.a.
Protein Preferred Names Protein Names

polycystin-1

  • autosomal dominant polycystic kidney disease 1 protein

  • polycystic kidney disease 1 (autosomal dominant)

  • polycystic kidney disease-associated protein

  • transient receptor potential cation channel, subfamily P, member 1

PKD1 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method Referencias
Intra
PKD1 P98161 PKD2 Homo sapiens Q13563 20168298
Intra
PKD1 P98161 PKD2 Homo sapiens Q13563
Y2H
10097141
Intra
PKD1 P98161 PKD2 Homo sapiens Q13563-1 19556541
Intra
PKD1 P98161 PKD2 Homo sapiens Q13563-1 19556541
Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases Alias
Isolated Elevated Serum Creatine Phosphokinase Levels
  • Elevated Serum Cpk

  • Idiopathic Hyperckemia

  • Isolated Hyperckemia

  • Elevated Serum Creatine Phosphokinase

  • H-Ck

  • Idiopathic Persistent Elevation Of Serum Creatine Kinase

Hypertension, Essential
  • Essential Hypertension

  • Hypertension

  • High Blood Pressure

  • Hypertension, Essential, Susceptibility To

  • Hypertensive Disease

  • Primary Hypertension

  • EHT

  • Hypertension, Salt-Sensitive Essential, Susceptibility To

  • Hyperpiesia

  • Idiopathic Hypertension

  • Hypertensive Disorder

  • Hypertension, Essential, Susceptibility To, 3

  • Hypertension, Essential 3

  • Hypertension, Essential, Salt-Sensitive

  • Hypertension, Essential, Susceptibility To, 6

  • Hypertension, Essential 6

  • Hypertension, Salt-Sensitive Essential

  • Hypertension, Susceptibility To

  • Hypertension, Essential, Susceptibility To, 4

  • Hypertension, Essential 4

  • Hypertension, Essential, Susceptibility To, 2

  • Hypertension, Essential 2

  • Hypertension, Essential, Susceptibility To, 1

  • Hypertension, Essential 1

  • Hypertension, Essential, Susceptibility To, 5

  • Hypertension, Essential 5

  • Htn

  • Vascular Hypertensive Disorder

  • Systemic Primary Arterial Hypertension

  • Hbp - [High Blood Pressure]

  • Systemic Arterial Hypertensive Disorder

  • Elevated Blood Pressure

  • Arterial Hypertension Nos

  • Hypertension Nos

  • Benign Hypertension

  • Systemic Arterial Hypertension

  • Systemic Hypertension

  • Artery Htn

  • Benign Htn

  • Vascular Htn

  • Vascular Hypertension

  • Cholesterol Hypertension

  • Cholesterol Htn

  • Idiopathic Htn

  • Malignant Hypertension

  • Malignant Htn

  • Raised Blood Pressure

  • Cardiovascular Hypertension

  • Primary Htn - [Hypertension]

  • High Arterial Tension

  • High Blood Pressure Disorder

  • Ht - [Hypertension]

  • Htn - [Hypertension]

  • Hypertensive Vascular Disease

  • Hypertensive Vascular Degeneration

Steatocystoma Multiplex
  • Sebocystomatosis

  • Multiple Sebaceous Cysts

  • Multiplex Steatocystoma

  • Sebaceous Cysts, Multiple

  • SM

Bardet-Biedl Syndrome
  • Bbs

  • Biedl-Bardet Syndrome

Multicystic Dysplastic Kidney
  • Multicystic Renal Dysplasia

  • Multicystic Kidney Dysplasia

  • Mcdk

  • Multiple Congenital Cysts Of Kidney

  • Developmental Multicystic Kidney

Cystic Fibrosis
  • Mucoviscidosis

  • CF

  • Pseudomonas Aeruginosa, Susceptibility To Chronic Infection By, In Cystic Fibrosis

  • Pseudomonas Aeruginosa Chronic Infection By, In Cystic Fibrosis

  • Cystic Fibrosis Lung Disease, Modifier Of

  • Cystic Fibrosis Of Pancreas

  • Fibrocystic Disease Of Pancreas

  • Cf - [Cystic Fibrosis]

  • Cystic Fibrosis Nos

  • Fibrocystic Disease

  • Fibrocystic Disease Of The Pancreas

  • Mucoviscidosis Of Pancreas

  • Nonproliferative Fibrocystic Disease

  • Pancreatic Cystic Fibrosis

Meckel Syndrome, Type 1
  • Meckel Syndrome

  • Meckel-Gruber Syndrome

  • Dysencephalia Splanchnocystica

  • Meckel Syndrome 1

  • MKS1

  • Mks

  • Gruber Syndrome

  • Meckel-Gruber Syndrome, Type 1

  • Mes

  • Dysencephalia Splachnocystica

  • Meckel Gruber Syndrome

  • Meckel Syndrome Type 1

Deafness, Autosomal Recessive 77
  • DFNB77

  • Autosomal Recessive Nonsyndromic Deafness 77

  • Autosomal Recessive Deafness 77

  • Deafness, Autosomal Recessive, 77

  • Non-Syndromic Neurosensory Deafness Autosomal Recessive Type 77

  • Deafness, Autosomal Recessive, Type 77

Asphyxiating Thoracic Dystrophy
  • Jeune Thoracic Dystrophy

  • Jeune Syndrome

  • Asphyxiating Thoracic Dysplasia

  • Short-Rib Thoracic Dysplasia With Or Without Polydactyly

  • Thoracic Pelvic Phalangeal Dystrophy

  • Asphyxiating Thoracic Chondrodystrophy

  • Atd

  • Chondroectodermal Dysplasia-Like Syndrome

  • Infantile Thoracic Dystrophy

  • Jeune Thoracic Dysplasia

  • Thoracic Asphyxiant Dystrophy

  • Thoracic-Pelvic-Phalangeal Dystrophy

  • Short-Rib Thoracic Dysplasia Without Polydactyly

  • Asphyxiating Thoracic Dystrophy Of The Newborn

  • Asphyxiating Thorax Dystrophy

Liver Disease
  • Liver Failure

  • Liver Diseases

  • Abnormality Of The Liver

  • Liver Dysfunction

  • Disorder Of Liver

  • Hepatic Disorder

  • Hepatic Disease

  • Disease Of Bilirubin Metabolism

  • Disorder Of Bilirubin Metabolism

  • Liver Decompensation

  • Liver Function Failure

  • Hepatic Failure Nos

  • Liver Failure Nos

  • End Stage Liver Disease

  • Decompensated Liver Failure

  • Decompensation Of Liver Function

  • Hepatic Decompensation

  • Hepatic Insufficiency

  • Liver Cell Necrosis With Hepatic Failure

  • Liver Insufficiency

  • Decompensated Liver Disease

  • End Stage Liver Failure

  • Liver Necrosis With Hepatic Failure

Cystic Kidney Disease
  • Renal Cyst

  • Simple Renal Cyst

  • Kidney Cysts

  • Kidney Diseases, Cystic

  • Renal Cysts

  • Kidney Cyst

  • Cystic Kidney

  • Congenital Cystic Kidney Disease

  • Cystic Kidney Diseases

  • Bosniak 1 Cyst

Cerebral Aneurysms
  • Cerebral Aneurysm

  • Cerebral Arterial Aneurysm

Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
  • Polycystic Kidney Disease 2

  • PKD2

  • Polycystic Kidney Disease, Adult, Type Ii

  • Apkd2

  • Polycystic Kidney Disease, Type 2

  • Adpkd2

  • Adult Polycystic Kidney Disease Type 2

  • Autosomal Dominant Polycystic Kidney Disease 2

  • Pkd-2

  • Polycystic Kidney Disease Adult Type Ii

  • Polycystic Kidney Type 2 Autosomal Dominant Disease

  • Kidney Disease, Polycystic, Type 2

Kartagener Syndrome
  • Kartagener'S Syndrome

Nephronophthisis
  • Medullary Cystic Disease

  • Medullary Cystic Kidney

  • Nph

  • Nphp

  • Kidney Disease, Cystic, Medullary

Primary Ciliary Dyskinesia
  • Immotile Cilia Syndrome

  • Kartagener Syndrome

  • Dextrocardia Bronchiectasis And Sinusitis

  • Pcd

  • Ciliary Motility Disorders

  • Ciliary Motility Disorder

  • Immotile Ciliary Syndrome

  • Ciliary Dyskinesia Primary

  • Ics

  • Polynesian Bronchiectasis

  • Dextrocardia-Bronchiectasis-Sinusitis Syndrome

  • Immotile Cilia Syndrome, Kartagener Type

  • Primary Ciliary Dyskinesia And Situs Inversus

  • Primary Ciliary Dyskinesia, Kartagener Type

  • Siewert Syndrome

  • Dyskinesia, Ciliary, Primary

Hemangioma
  • Hemangiomas

Cerebral Arterial Disease
  • Cerebral Arterial Diseases

Deafness, Autosomal Recessive 66
  • DFNB66

  • Autosomal Recessive Nonsyndromic Deafness 66

  • Autosomal Recessive Deafness 66

  • Deafness, Autosomal Recessive, 66

  • Deafness, Autosomal Recessive, Type 66

Nephronophthisis 1
  • NPHP1

  • Nephronophthisis, Familial Juvenile

  • Nph1

  • Nephronophthisis 1, Juvenile

  • Juvenile Nephronophthisis 1

  • Familial Juvenile Nephronophthisis 1

  • Nephronophthisis, Type 1

End Stage Renal Disease
  • End Stage Renal Failure

  • End-Stage Kidney Disease

  • Kidney Failure, Chronic

  • Chronic Kidney Disease Stage 5

Oligohydramnios
  • Oligohydramnios - Delivered

  • Antepartum Oligohydramnios

  • Delivered Oligohydramnios

  • Oligohydramnios, Antepartum Condition Or Complication

  • Deficient Liquor

  • Oligohydramnios, Unspecified Trimester

  • Reduced Liquor Volume

Kidney Disease
  • Renal Failure

  • Kidney Failure

  • Kidney Diseases

  • Nephropathy

  • Abnormality Of The Kidney

  • Impaired Renal Function Disease

  • Renal Anomaly

  • Kidney Dysfunction

  • Renal Disease

  • Nephropathies

  • Renal Failure Adverse Event

  • Abnormal Renal Function

Polycystic Kidney Disease, Infantile Severe, With Tuberous Sclerosis
  • PKDTS

  • Tuberous Sclerosis/Polycystic Kidney Disease Contiguous Gene Syndrome

  • Polycystic Kidneys, Severe Infantile With Tuberous Sclerosis

  • Chromosome 16p13.3 Deletion Syndrome, Distal

  • Tuberous Sclerosis Polycystic Kidney Disease Contiguous Gene Syndrome

  • Autosomal Dominant Polycystic Kidney Disease Type 1 With Tuberous Sclerosis

  • Tsc2/Pkd1 Contiguous Gene Syndrome

Renal Dysplasia, Cystic
  • CYSRD

  • Renal Dysplasia, Cystic, Susceptibility To

  • Diffuse Cystic Renal Dysplasia

  • Renal Dysplasia Diffuse Cystic

  • Cystic Renal Dysplasia

  • Susceptibility To Cystic Renal Dysplasia

  • Dysplasia, Renal, Cystic, Susceptibility To

  • Multicystic Dysplastic Kidney

Intracranial Berry Aneurysm
  • Familial Aneurysmal Subarachnoid Hemorrhage

  • Familial Berry Aneurysm

  • Familial Intracranial Saccular Aneurysm

  • Saccular Cerebral Aneurysm

  • Aneurysm, Intracranial Berry

  • Aneurysmal Subarachnoid Hemorrhage

  • Aneurysm, Intracranial Berry, 1

Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1a
  • Multiple Pterygium Syndrome, Autosomal Dominant

  • CPSFS1A

  • Contractures, Pterygia, And Spondylocarpostarsal Fusion Syndrome 1a

  • Autosomal Dominant Disease

  • Contractures, Pterygia, And Variable Skeletal Fusions Syndrome 1a

  • Cpskf1a

  • Pterygium Syndrome, Multiple

  • Autosomal Dominant

  • Arthrogryposis, Distal, Type 8, Formerly

  • Da8, Formerly

  • Autosomal Dominant Multiple Pterygium Syndrome

  • Distal Arthrogryposis Type 8

  • Arthrogryposis, Distal, Type 8

  • Da8

  • Pterygium Syndrome, Multiple, Autosomal Dominant

  • Autosomal Dominant Disorder

Autosomal Genetic Disease
  • Autosomal Hereditary Disorder

Joubert Syndrome 1
  • Joubert Syndrome

  • Jbts

  • Cerebellooculorenal Syndrome 1

  • JBTS1

  • Joubert-Boltshauser Syndrome

  • Cerebelloparenchymal Disorder Iv

  • Cpd4

  • Cors1

  • Joubert Syndrome And Related Disorders

  • Jsrd

  • Familial Aplasia Of The Vermis

  • Joubert Syndrome Related Disorders

  • Js

  • Cerebellar Vermis Agenesis

  • Cerebelloparenchymal Disorder 4

  • Agenesis Of Cerebellar Vermis

  • Cerebello-Oculo-Renal Syndrome

  • Cors

  • Joubert-Bolthauser Syndrome

  • Cpd Iv

  • Classic Joubert Syndrome

  • Joubert Syndrome Type A

  • Pure Joubert Syndrome

  • Cerebello-Oculo-Renal Syndrome 1

  • Joubert Syndrome-1

  • Joubert Syndrome, Type 1

  • Joubert'S Syndrome

Fundus Dystrophy
  • Retinal Dystrophy

  • Retinal Dystrophies

  • Dystrophy, Retinal

Orthostatic Intolerance
  • Mitral Valve Prolapse

  • Neurocirculatory Asthenia

  • Mitral Valve Prolapse Syndrome

  • Irritable Heart

  • Systolic Click-Murmur Syndrome

  • Soldiers Heart

  • Cardiovascular Malfunction Arising From Mental Factors

  • Cardiovascular Neurosis

  • Da Costa'S Syndrome

  • Krishaber'S Disease

  • Barlow'S Syndrome

  • Floppy Mitral Valve

  • Mitral Leaflet Syndrome

  • Myxomatous Mitral Valve Prolapse

  • Postural Orthostatic Tachycardia Syndrome Due To Net Deficiency

  • Familial Orthostatic Tachycardia Due To Norepinephrine Transporter Deficiency

  • Orthostatic Intolerance Due To Net Deficiency

  • Pots Due To Net Deficiency

  • OI

  • Intolerance, Orthostatic

  • Mitral Valve Prolapse, Familial, X-Linked

  • Ballooning Mitral Valve

  • Barlow Syndrome

  • Flail Mitral Leaflet

  • Myxomatous Mitral Valve

  • Mitral Valve Prolapse-Click Syndrome

  • Prolapsing Mitral Valve Leaflet Syndrome

  • Billowing Mitral Valve Leaflet

  • Posterior Mitral Leaflet Deformity

  • Ballooning Posterior Leaflet Syndrome

  • Blue Valve Syndrome

  • Floppy Mitral Valve Syndrome

  • Mitral Valvular Prolapse

  • Systolic Click Syndrome

Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease
  • Polycystic Kidney Disease 1

  • PKD1

  • Adpkd

  • Polycystic Kidney Disease, Adult, Type I

  • Apkd1

  • Potter Type Iii Polycystic Kidney Disease

  • Polycystic Kidney Disease, Adult

  • Potter Type Iii Polycystic Kidney Disease, Formerly

  • Polycystic Kidney Disease, Type 1

  • Adpkd1

  • Adult Polycystic Kidney Disease Type 1

  • Autosomal Dominant Polycystic Kidney Disease 1

  • Pkd-1

  • Polycystic Kidney Disease Adult

  • Polycystic Kidney Disease Type I

  • Polycystic Kidneys

  • Polycystic Kidney Disease, Adult Type I

  • Polycystic Kidney Type 1 Autosomal Dominant Disease

  • Kidney Disease, Polycystic, Type 1

  • Polycystic Kidney, Autosomal Dominant

  • Polycystic Kidney, Type 1 Autosomal Dominant Disease

  • Polycystic Kidney Diseases

Tuberous Sclerosis
  • Tuberous Sclerosis Syndrome

  • Bourneville'S Disease

  • Epiloia

  • Cerebral Sclerosis

  • Tuberose Sclerosis

  • Tuberous Sclerosis 1

  • Bourneville Disease

  • Bourneville Phakomatosis

  • Pringle'S Disease

Situs Inversus
  • Situs Inversus Viscerum

  • Laterality Sequence

  • Complete Transposition

  • Siv

Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
  • Autosomal Recessive Polycystic Kidney Disease

  • Arpkd

  • Polycystic Kidney Disease, Autosomal Recessive

  • Polycystic Kidney And Hepatic Disease 1

  • Pkhd1

  • PKD4

  • Polycystic Kidney Disease 4 With Or Without Hepatic Disease

  • Polycystic Kidney Disease, Infantile, Type I

  • Polycystic Kidney Disease, Infantile Type

  • Polycystic Kidney, Autosomal Recessive

  • Pkd3, Formerly

  • Polycystic Kidney Disease 4, With Or Without Hepatic Disease

  • Arpkd/Chf

  • Ar-Pkd

  • Polycystic Kidney Disease 4, With Or Without Polycystic Liver Disease

  • Infantile Polycystic Kidney Disease Type I

  • Pkd3

  • Kidney, Polycystic, Disease, Type 4, With/Without Hepatic Disease

  • Polycystic Kidney Disease 3, Autosomal Dominant

Chronic Kidney Disease
  • Chronic Renal Disease

  • Chronic Kidney Failure

  • Ckd

  • Chronic Renal Failure

  • Kidney Failure, Chronic

  • Chronic Renal Failure Syndrome

  • Crf

  • Renal Failure - Chronic

  • Renal Failure Chronic

  • Chronic Kidney Diseases

  • Chronic Kidney Disease Stage 5

  • Ckd - [Chronic Kidney Disease]

  • Crf - [Chronic Renal Failure]

  • Chronic Kidney Impairment

  • Chronic Renal Impairment

  • Chronic Kidney Shutdown

  • Chronic Hypoxic Kidney Failure

  • Chronic Kidney Collapse

  • Chronic Renal Insufficiency

  • Chronic Kidney Toxaemia

  • Chronic Kidney Hypofunction

  • Chronic Renal Suppression

  • Chronic Renal Failure, Stage 5

  • Ckd - [Chronic Kidney Disease] Stage 5

  • End Stage Kidney Failure

  • End Stage Renal Failure

  • End Stage Kidney Disease

  • End Stage Renal Disease

  • End Stage Chronic Renal Failure

  • Esrf - [End Stage Renal Failure]

  • Esrd - [End Stage Renal Diseases]

  • Egfr - [Estimated Glomerular Filtration Rate] < 15 Ml/Min/1.73m²

Retinitis Pigmentosa
  • RP

  • Rod-Cone Dystrophy

  • Autosomal Recessive Retinitis Pigmentosa

  • Non-Syndromic Retinitis Pigmentosa

  • Pericentral Pigmentary Retinopathy

  • Pigmentary Retinopathy

  • Tapetoretinal Degeneration

  • Rcd

  • Retinitis Pigmentosa Autosomal Recessive

  • ARRP

  • Retinitis Pigmentosa, Autosomal Recessive

  • Retinitis Pigmentosa 1

Polycystic Liver Disease
  • Autosomal Dominant Polycystic Liver Disease

  • Isolated Polycystic Liver Disease

  • Pcld

  • Congenital Cystic Liver Disease

  • Congenital Hepatic Cyst

  • Fibrocystic Liver Disease

  • Isolated Autosomal Dominant Polycystic Liver Disease

  • Adpcld

  • Liver Disease, Polycystic

  • Multiple Cysts Of Liver

  • Pld - [Polycystic Liver Disease]

  • Polycystic Liver Disorder

  • Polycystic Liver

  • Congenital Polycystic Disease Of Liver

  • Congenital Polycystic Liver Disease

Von Hippel-Lindau Syndrome
  • Von Hippel-Lindau Disease

  • Vhl

  • Vhl Syndrome

  • VHLS

  • Von Hippel-Lindau Syndrome, Modifier Of

  • Hippel Lindau Syndrome

  • Angiomatosis Retinae

  • Cerebelloretinal Angiomatosis, Familial

  • Hippel-Lindau Disease

  • Familial Cerebelloretinal Angiomatosis

  • Lindau Disease

  • VHLD

Creatine Phosphokinase, Elevated Serum
  • Hyperckemia, Idiopathic

  • Cpk, Elevated Serum

  • Hyperckmia

  • HYPCK

Visceral Heterotaxy
  • Situs Ambiguus

  • Heterotaxia

  • Heterotaxy Syndrome

  • Heterotaxy

  • Lateralization Defect

  • Situs Ambiguous

  • Left Isomerism

  • Htx

  • Ivemark Syndrome

  • Right Isomerism

  • Situs Ambiguus Viscerum

  • Incomplete Situs Inversus

  • Partial Situs Inversus

  • Heterotaxy, Visceral

  • Asplenia Syndrome

  • Bilateral Left-Sidedness

  • Polysplenia Syndrome

  • Moller Syndrome

Renovascular Hypertension
  • Hypertension, Renovascular

  • Hypertension Renovascular

Marfan Syndrome
  • MFS

  • Mfs1

  • Marfan'S Syndrome

  • Marfan Syndrome Type 1

  • Marfan Syndrome, Type I

  • Mass Phenotype

  • Contractural Arachnodactyly

  • Mass Syndrome

  • Octd

  • Overlap Connective Tissue Disease

  • Marfanoid Hypermobility Syndrome

  • Marfan Disease

Polycystic Kidney Disease 3 With Or Without Polycystic Liver Disease
  • PKD3

  • Polycystic Kidney Disease, Adult, Type Iii

  • Apkd3

  • Polycystic Kidney Disease 3

  • Polycystic Kidney Disease, Type 3

  • Polycystic Kidney Disease 3 Without Polycystic Liver Disease

  • Polycystic Kidney Disease 3, Autosomal Dominant

Nephronophthisis 2
  • NPHP2

  • Nph2

  • Nephronophthisis 2, Infantile

  • Infantile Nephronophthisis 2

  • Infantile Nephronophthisis

  • Nephronophthisis, Type 2

Autosomal Dominant Polycystic Kidney Disease
  • Polycystic Kidney Disease, Adult Type

  • Adpkd

  • Polycystic Kidney Diseases

  • Polycystic Kidney, Autosomal Dominant

  • Congenital Biliary Ectasias

  • Polycystic Kidney And Hepatic Disease 1

  • Polycystic Kidney Disease, Autosomal Dominant

  • Kidney, Polycystic, Disease, Autosomal Dominant

  • Adult Polycystic Kidney Disease

  • Polycystic Kidney, Adult Type

  • Apckd - [Autosomal Polycystic Kidney Disease]

Polycystic Kidney Disease
  • Polycystic Kidney Diseases

  • Pkd

  • Polycystic Renal Disease

  • Kidney Disease, Polycystic

  • Polycystic Kidney, Autosomal Dominant

Chromosome 2q35 Duplication Syndrome
  • Syndactyly

  • Syndactyly Type 1

  • Sdty1

  • Syndactyly, Type I

  • Sd1

  • Zygodactyly

  • Syndactyly, Type 1, With Or Without Craniosynostosis

  • Non-Syndromic Syndactyly

  • Symphalangism

  • Symphalangy

  • Webbing Of Digits

  • Syndactyly, Type 1

Caroli Disease
  • Caroli Disease Isolated

  • Congenital Polycystic Dilatation Of Intrahepatic Bile Ducts

  • Cystic Dilatation Of The Intrahepatic Biliary Tree

  • Caroli Syndrome

  • Carolis Disease

Polycystic Liver Disease 1 With Or Without Kidney Cysts
  • Polycystic Liver Disease 1

  • PCLD1

  • Liver Disease, Polycystic, Type 1

  • Polycystic Liver Disease

  • Cyst

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Rattus norvegicus PKD1 RGD RGD:3333
Bos taurus PKD1 VGNC VGNC:32933
Felis catus PKD1 VGNC VGNC:82450
Mus musculus PKD1 MGD MGI:97603
Canis familiaris PKD1 VGNC VGNC:44597
Others PKD1 NCBI