Autosomal Recessive Polycystic Kidney
Autosomal Recessive Polycystic Kidney
About the Disease
Polycystic Kidney Disease 4 with or Without Polycystic Liver Disease, also known as autosomal recessive polycystic kidney disease, is related to polycystic kidney disease 3 with or without polycystic liver disease and polycystic kidney disease 4. 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 Cargo trafficking to the periciliary membrane. The drugs Tolvaptan and Arginine Vasopressin have been mentioned in the context of this disorder. Affiliated tissues include kidney, liver and heart, and related phenotypes are hypertension and polycystic kidney dysplasia
Common Targets
PKD1 | INVS | PKD2 | KIF7 | NPHP4 | FLT4 | G1956 | TMEM67 | KDR | EPHB4 | G2064 | ACTN4 | GLIS2 | PKHD1 | DZIP1L | WDR19 | NPHP3 | ZNF423 | HNF1B | NPR2 | HDAC6 | Phosphodiesterase IV (PDE4) (nonspecified subtype) | CSK
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Other Diseases
Antithrombin III Deficiency | Tendinopathy | Adenocarcinoma | Periodic Limb Movement Disorder | Gastroschisis | Dyskeratosis Congenita | Heterotaxy | Keratocystic Odontogenic Tumor | Constipation | Cutis Laxa | Osteoporosis, Postmenopausal | Mohr-Tranebjaerg Syndrome | Hypobetalipoproteinemias | Dysequilibrium Syndrome | Reflex Epilepsy | Hypertension, Pulmonary | Traboulsi Syndrome | Liver Failure, Acute Infantile | Hyperekplexia | Keratosis | Lymphoproliferative Disorders | Prediabetes | Nephroblastoma | Tracheal Disorders | Papulopustular Rosacea | Japanese Encephalitis | Glutaric Aciduria Type 1 | Stevens-Johnson Syndrome | Polydactyly | Coloboma | Aldosterone Deficiency | Glycogen Storage Disease | Hypoplastic Left Heart Syndrome | Primary Lateral Sclerosis | Bruck Syndrome | Central Core Disease | Primrose Syndrome | Epiphyseal Chondrodysplasia, Miura Type | Fontaine Progeroid Syndrome | Biotinidase Deficiency | Cyst | Lymphangioma | Chanarin-Dorfman Syndrome | Spondylocarpotarsal Synostosis Syndrome | Hydrocephalus, Normal Pressure | Glutaric Aciduria Type 2 | Agoraphobia | Obsessive-compulsive Disorder | Hepatic Adenomatosis | Astrocytoma | Hypoproteinemia, Hypercatabolic | Thin Basement Membrane Disease | GM2-gangliosidosis AB Variant | Ileitis | Hypersensitivity Pneumonitis | Schwartz-Jampel-Aberfeld Syndrome | Focal Cortical Dysplasia Type 2 | Loeys-Dietz Syndrome | Primary Sclerosing Cholangitis | Carpal Tunnel Syndrome | Amyloidosis | Smith-Magenis Syndrome | KBG Syndrome | Noonan Syndrome | Hypermetropia | Cardiomyopathy, Hypertrophic | Small Lymphocytic Lymphoma | Avian Influenza | Episodic Ataxia Type 1 | Kabuki Syndrome 2 | Hypolipoproteinemia | Large Granular Lymphocytic Leukemia | Renal Tubular Dysgenesis | Optic Nerve Diseases | Pernicious Anemia | Marinesco-Sjogren Syndrome | Myotonia | Cataplexy | Myositis, Focal | Oligoastrocytoma | Chloridorrhea, Congenital | Congenital Nystagmus | Lentigo | Lymphoma, Mantle Cell | Blepharophimosis Syndrome | Pontocerebellar Hypoplasia Type 7 | Nutrition Disorders | H Syndrome | Heroin Dependence | Proctitis | Graft-versus-host Disease | Hyperlipidemia Type V | Brenner Tumor | Shprintzen-Goldberg Syndrome | Platyspondylic Lethal Skeletal Dysplasia, Torrance Type | Niemann-Pick Disease, Type B | Tatton-Brown-Rahman Syndrome | Rheumatoid Arthritis | Anemia | Enlarged Vestibular Aqueduct | Familial Pheochromocytoma-paraganglioma | Leprosy | Lichen Planus | Cholangitis | Pneumothorax | Schizotypal Personality Disorder | PASLI Disease | 3-hydroxy-3-methylglutaryl-CoA Synthase Deficiency | Mucolipidosis Type III | Mixed Connective Tissue Disease | Sialoadenitis | Osteogenesis Imperfecta Type II | Chondroma | Lymphedema-distichiasis Syndrome | Asthma, Exercise-induced | Contact Dermatitis | Myoclonic Atonic Epilepsy | Pulmonary Alveolar Proteinosis | Wiedemann-Steiner Syndrome | Blepharo-cheilo-odontic Syndrome | Neuroblastoma | DNA Ligase IV Deficiency | Rhizomelic Chondrodysplasia Punctata | Neurofibroma | Encephalocele | Myoclonic Epilepsy With Ragged Red Fibers | Sickle Cell Disease | Best Macular Dystrophy | Anthrax | Babesiosis | Asthma | Epidermolysis Bullosa Dystrophica | Schnitzler Syndrome | Scoliosis | Cardiac Arrest | Hypertelorism | Waardenburg Syndrome Type 2 | Hypokalemia | IgA Deficiency | Hypohidrotic Ectodermal Dysplasia | Hyperbilirubinemia | Rolandic Epilepsy | Prune Belly Syndrome | Ghosal Syndrome | Atelosteogenesis Type 2 | Eating Disorder | Hyperoxaluria | Hereditary Folate Malabsorption | Leri Pleonosteosis | Tetraplegia | Sensorineural Hearing Loss | Insulinoma | Neurocysticercosis | Hypereosinophilic Syndrome | Congenital Primary Aphakia | Epidermolysis Bullosa Acquisita | Exotropia | Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3 | Hidradenitis | CHOPS Syndrome | Bronchitis | Sturge-Weber Syndrome | Tuberculous Meningitis | Autoimmune Interstitial Lung, Joint, And Kidney Disease | Botulism | Thrombocythemia, Essential | Porphyria, Acute Intermittent | Esophageal Carcinoma | Gestational Trophoblastic Disease | Familial Cerebral Amyloid Angiopathy | Bainbridge-Ropers Syndrome | Glaucoma, Congenital | Tumoral Calcinosis | Thymoma, Malignant | Macular Corneal Dystrophy | Mumps | Erectile Dysfunction | Withdrawal Syndrome | Liver Failure | Nephrosclerosis | Familial Isolated Hyperparathyroidism | Wolfram Syndrome 2 | Cholestasis, Intrahepatic | Chitayat Syndrome | Esotropia | Cholera | Pupil Disorders | Vulvovaginitis | Hyperthermia, Malignant | Intestinal Hypomagnesemia 1 | Vitamin K Deficiency | Familial Advanced Sleep Phase Syndrome | Tonsillitis | Klippel-Feil Syndrome | Thyroid Dyshormonogenesis | Acromicric Dysplasia | 3-methylcrotonyl-CoA Carboxylase Deficiency | Familial Glucocorticoid Deficiency | Epidermolysis Bullosa Simplex With Mottled Pigmentation | Episodic Ataxia | Glioma | Personality Disorders | Brachydactyly | Diabetes | Pemphigoid | Fuchs Heterochromic Iridocyclitis | Takotsubo Cardiomyopathy | Fatty Aldehyde Dehydrogenase Deficiency | 5-oxoprolinase Deficiency | Cirrhosis | Dementia | Neurofibromatosis Type 1 | Cystinuria | Infertility, Male | X-linked Acrogigantism | Mucolipidosis Type II | Myofibromatosis | Oculocutaneous Albinism Type 4 | Subacute Sclerosing Panencephalitis | Behavioral Variant Of Frontotemporal Dementia | Hyperbilirubinemia, Neonatal | Neutropenia | C3 Glomerulonephritis | Vici Syndrome | Stroke, Hemorrhagic | Alpers Syndrome | Growth Hormone Excess | WAGR Syndrome | Adenylosuccinate Lyase Deficiency | Mitochondrial Cytopathy | Fetal Akinesia Deformation Sequence | Crimean-Congo Hemorrhagic Fever | Androgen Insensitivity | Alzheimer Disease, Late Onset | Urolithiasis | Cryptosporidiosis | Gitelman Syndrome | Osteopathia Striata With Cranial Sclerosis | Birk-Barel Syndrome | Scapuloperoneal Spinal Muscular Atrophy | Cerebrovascular Disorders | Zygomycosis | Gerstmann-Straussler-Scheinker Syndrome | Charcot-Marie-Tooth Disease, Type 2 | Anorectal Malformations | Vitamin D Deficiency | Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis | Glycogen Storage Disease Type 1 | Hemolytic Anemia | Adenoid Cystic Carcinoma | Preaxial Polydactyly | Cocaine-Related Disorders | Pancreatitis, Chronic | Paroxysmal Nocturnal Hemoglobinuria | Hemochromatosis Type 1 | Obesity, Morbid | Early Infantile Epileptic Encephalopathy 1 | Hereditary Xerocytosis | Dystonia Musculorum Deformans | Varicocele | Familial Male-limited Precocious Puberty | Leukocyte Adhesion Deficiency Type 1 | Hepatopulmonary Syndrome | Poirier-Bienvenu Neurodevelopmental Syndrome | Acrodysostosis | Plasma Cell Leukemia | Nicotine Addiction | Arteriovenous Malformations | 17-beta-hydroxysteroid Dehydrogenase X Deficiency | Multiple Mitochondrial Dysfunctions Syndrome Type 1 | Lymphangioleiomyomatosis | Vitamin A Deficiency | Temtamy Preaxial Brachydactyly Syndrome | Anorectal Fistula | Hereditary Hemorrhagic Telangiectasia Type 2 | Congenital Stationary Night Blindness | Autoimmune Hemolytic Anemia | Rotor Syndrome | Postpartum Depression | Crisponi Syndrome | Usher Syndrome Type I | Leigh Syndrome | Urea Cycle Disorder | Schindler Disease | Gastrointestinal Disorders | Blepharitis | Amyotrophic Lateral Sclerosis | Extramammary Paget's Disease | Polycystic Ovary Syndrome | Ophthalmia, Sympathetic | Atopy | Vitreoretinopathy, Proliferative | Lafora Disease | Avellino Corneal Dystrophy | Autosomal Recessive Spastic Paraplegia Type 35 | Aarskog-Scott Syndrome | Portal Vein Thrombosis | Narcolepsy | Renal Failure | Farber Disease | Bronchiolitis | Pelvic Inflammatory Disease | Lymphoma, AIDS-related | Acquired Partial Lipodystrophy | Oguchi Disease-2 | Adenomyosis | Spinocerebellar Ataxia Type 8 | Juvenile Myoclonic Epilepsy | Muscular Dystrophy | X-linked Creatine Transporter Deficiency | Retinal Coloboma | Meesmann Corneal Dystrophy | Arts Syndrome | Lyme Disease | Renal Hypouricemia | Rhabdomyosarcoma | Exfoliative 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Hypophosphatemic Rickets, Autosomal Recessive, 1 | Erythropoietic Protoporphyria | PHARC Syndrome | Yellow Fever | Microphthalmia | Craniometaphyseal Dysplasia | Metabolic Diseases | Periventricular Leukomalacia | Oral Lichen Planus | Malignant Fibrous Histiocytoma | Distal Myopathy | Meckel-Gruber Syndrome | Pyruvate Decarboxylase Deficiency | Familial Exudative Vitreoretinopathy | Hypoglycemia | Scleritis | Familial Dysautonomia | Hypotonia-cystinuria Syndrome | Castleman Disease | Leiomyosarcoma | Eosinophilia | Glycogen Storage Disease Type 0 | Craniofrontonasal Syndrome | Ollier Disease | Angioedema, Hereditary | Odonto-onycho-dermal Dysplasia | Hartsfield Syndrome | Chronic Thromboembolic Pulmonary Hypertension | Argininosuccinic Aciduria | Hyperkeratosis | Ligneous Conjunctivitis | Alopecia Areata | Adult Polyglucosan Body Disease | Fabry's Disease | Neurocutaneous Melanocytosis | Fahr Disease | Pancreatitis | Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic 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