Disease

Renpenning Syndrome

About the Disease
Renpenning Syndrome 1, also known as renpenning syndrome, is related to arthrogryposis, distal, type 2b1 and x-linked intellectual disability, golabi-ito-hall type, and has symptoms including muscle spasticity An important gene associated with Renpenning Syndrome 1 is PQBP1 (Polyglutamine Binding Protein 1), and among its related pathways/superpathways is Processing of Capped Intron-Containing Pre-mRNA. Affiliated tissues include testes, heart and eye, and related phenotypes are intellectual disability and global developmental delay

Common Targets
PQBP1

疾病靶点研报
Renpenning Syndrome

Note: If you'd like to get a target analysis report for Renpenning Syndrome, or if you are interested to learn how our AI-powered BDE-Chem can design therapeutic molecules to interact with the target(s) above against the disease of Renpenning Syndrome at a cost 90% lower than traditional approaches, please feel free to contact us at BD@silexon.ai.

Other Diseases

Long QT Syndrome Type 1 | Thyroid Dyshormonogenesis | Ataxia-ocular Apraxia 2 | Peripheral Neuropathy | Autoimmune Polyendocrinopathy Syndrome Type I | Cri-du-chat Syndrome | Synpolydactyly | Nephronophthisis | Combined Pituitary Hormone Deficiency | Amyloidosis | Neurogenic Bladder | Guillain-Barre Syndrome | Lennox-Gastaut Syndrome | Spinocerebellar Ataxia Type 15 | Pulmonary Sclerosing Hemangioma | B-cell Chronic Lymphocytic Leukemia | HELLP Syndrome | Cardiomyopathy, Peripartum | Alazami Syndrome | Hemorrhage | Familial Exudative Vitreoretinopathy | Sick Sinus Syndrome 1 | Lichen Sclerosus | Tibial Muscular Dystrophy | LMNA-related Congenital Muscular Dystrophy | Light Chain Amyloidosis | Amebiasis | Cholestasis | Infertility, Male | Hyperkalemic Periodic Paralysis | Chondrodysplasia Punctata 2, X-linked Dominant | Hypodontia | Cyclic Vomiting Syndrome | Aphasia | CEDNIK Syndrome | Seminoma | Conjunctivitis, Allergic | Dwarfism | Focal Dermal Hypoplasia | Colitis, Lymphocytic | Eccrine Porocarcinoma | Atelosteogenesis Type 1 | Facioscapulohumeral Muscular Dystrophy Type 1 | Diffuse Mesangial Sclerosis | CHOPS Syndrome | Atopic Dermatitis | Keratosis, Seborrheic | Johanson-Blizzard Syndrome | Molybdenum Cofactor Deficiency | Danon Disease | Conn Syndrome | Glutaric Aciduria Type 2 | Crohn's Disease | Brachydactyly | Coma | Spina Bifida | Gallstones | Ocular Albinism Type 1 | Congenital Generalized Lipodystrophy | Raynaud Phenomenon | Melanoma, Malignant | Carpenter Syndrome | Alpers Syndrome | Aarskog-Scott Syndrome | Blastoma, Pleuropulmonary | Gaucher Disease | Analgesia | Hidradenitis Suppurativa | Chromosome 17q21.31 Deletion Syndrome | Osteitis | Autoimmune Interstitial Lung, Joint, And Kidney Disease | Limb Girdle Muscular Dystrophy | Cluster Headache | Lipid Storage Myopathy | Coronary Heart Disease | Glycogen Storage Disease Type 4 | Schaaf-Yang Syndrome | VACTERL Association | Joubert Syndrome | Polyarteritis Nodosa | Hypotension, Orthostatic | Alstrom Syndrome | Stroke, Hemorrhagic | Goldenhar Syndrome | Arteriosclerosis | Colorectal Adenoma | Pure Autonomic Failure | Autoimmune Disease | Sarcoma | Primary Hyperoxaluria | Systemic Mastocytosis | Intestinal Pseudo-obstruction | Measles | Megalencephaly | Cholera | Wilson's Disease | Keratopathy | Tinea | Osteoarthritis | Hypospadias | Schuurs-Hoeijmakers Syndrome | Uveitis, Anterior | Early Infantile Epileptic Encephalopathy 13 | Wieacker-Wolff Syndrome | Absence Epilepsy | Juvenile Myelomonocytic Leukemia | Carcinoid Syndrome | Neuroendocrine Cancer | Fukuyama Congenital Muscular Dystrophy | Costello Syndrome | Pain | Familial Retinal Arterial Macroaneurysm | Juvenile Xanthogranuloma | Lymphoma, Mantle Cell | Peeling Skin Syndrome Type B | Metabolic Syndrome | Pitt-Hopkins Syndrome | Periodic Limb Movement Disorder | Maternally Inherited Diabetes And Deafness | Arthritis | Moyamoya Disease | Emery-Dreifuss Muscular Dystrophy | Adenocarcinoma | Metatropic Dysplasia | Axenfeld-Rieger Syndrome | Leri-Weill Dyschondrosteosis | Galactosemia | Polyneuropathy | Spinocerebellar Ataxia Type 12 | Metachondromatosis | Trichomegaly | Alzheimer Disease, Late Onset | GLUT1 Deficiency Syndrome | Varices | Hypertension, Renovascular | Ocular Surface Squamous Neoplasia | Postaxial Polydactyly | Genee-Wiedemann Syndrome | Zellweger Syndrome | Chorea-acanthocytosis | Basal Cell Nevus Syndrome | Mevalonate Kinase Deficiency | Achondrogenesis | Carey-Fineman-Ziter Syndrome | Creatine Deficiency Syndrome | POEMS Syndrome | Angioimmunoblastic T-cell Lymphoma | Porphyria, Acute Intermittent | Hyperekplexia | Nicotine Addiction | Rift Valley Fever | Sensory Neuropathy | Pemphigus | Richter's Syndrome | Choroideremia | Spinocerebellar Ataxia Type 14 | Aromatic L-amino Acid Decarboxylase Deficiency | Malignant Peripheral Nerve Sheath Tumor | Multicystic Renal Dysplasia | Hypersensitivity Pneumonitis | Chronic Kidney Disease | Primary Cutaneous Amyloidosis | Pneumoconiosis | Idiopathic Multicentric Castleman Disease | Rhinitis | Ectrodactyly | Gynecomastia | Left Ventricular Noncompaction | Nephrotic Syndrome | Alcoholism | Jaundice, Obstructive | Stuve-Wiedemann Syndrome | Medium-chain Acyl-CoA Dehydrogenase Deficiency | Familial Advanced Sleep Phase Syndrome | Primary Carnitine Deficiency | Glycogen Storage Disease Type 6 | Acute Kidney Injury | Inflammatory Joint Disease | Diastrophic Dysplasia | Epidermodysplasia Verruciformis | Charcot-Marie-Tooth Disease Type 2T | Apraxia | Globozoospermia | Duchenne Muscular Dystrophy | Papulopustular Rosacea | Hypereosinophilic Syndrome | Oculocutaneous Albinism Type 2 | Leber Hereditary Optic Neuropathy | Small Lymphocytic Lymphoma | Paroxysmal Kinesigenic Dyskinesia | Colitis, Collagenous | Cerebellofaciodental Syndrome | Kabuki Syndrome 2 | Sandhoff Disease | MELAS Syndrome | Trichuriasis | Myosin Storage Myopathy | L-2-Hydroxyglutaric Aciduria | Thrombotic Microangiopathy | Split Hand-foot Malformation | Optic Atrophy 2 | Twin-to-twin Transfusion Syndrome | Spitz Nevus | Congenital Dyserythropoietic Anemia Type 1 | Hydrocephalus, Normal Pressure | Benign Familial Pemphigus | Hepatitis, Alcoholic | Thrombophilia | Multiple Congenital Anomalies-hypotonia-seizures Syndrome 2 | Epilepsy, Generalized | Tangier Disease | Thanatophoric Dysplasia | Hyperparathyroidism, Primary | Renal Oncocytoma | Hydrocephalus | Glioblastoma Multiforme | Platyspondylic Lethal Skeletal Dysplasia, Torrance Type | Diabetic Neuropathy | Heterotaxy | Pseudohermaphroditism | Primary Sclerosing Cholangitis | Cutaneous Mastocytosis | Aicardi-Goutieres Syndrome | Epidermolysis Bullosa Simplex, Localized | Blomstrand Osteochondrodysplasia | Exfoliative Dermatitis | Schamberg Disease | Amyotrophic Lateral Sclerosis, Juvenile | Papilledema | Cataract | Periodontitis | Epilepsy Of Infancy With Migrating Focal Seizures | Giant Axonal Neuropathy | Chronic Myeloid Leukemia | Anorchia | Charcot-Marie-Tooth Disease, Type 2 | Compartment Syndrome | Japanese Encephalitis | Agoraphobia | Perry Syndrome | Preaxial Polydactyly | Polymyalgia Rheumatica | Osteogenesis Imperfecta Type IV | Hypercholesterolemia, Familial | Carcinoma In Situ | Zimmermann-Laband Syndrome | Epidermolysis Bullosa Acquisita | Duodenal Atresia | Idiopathic Pulmonary Fibrosis | Alpha-mannosidosis | Basan Syndrome | Juvenile Myoclonic Epilepsy | Chiari Malformation Type I | Tularemia | Mumps | Actinomycetoma | Vertebrobasilar Insufficiency | Miyoshi Myopathy | Monilethrix | Isovaleric Acidemia | Hemolytic Anemia | Fibrillation, Atrial | Isobutyryl-CoA Dehydrogenase Deficiency | Geleophysic Dysplasia | Hemangioendothelioma | Dysferlinopathy | Hydrops Fetalis | Muir-Torre Syndrome | Dysequilibrium Syndrome | Erectile Dysfunction | Gardner Syndrome | Paroxysmal Nocturnal Hemoglobinuria | Intermittent Explosive Disorder | Chordoid Glioma | Lymphopenia | Hemoglobinopathies | Cancer, Prostate | Chromosome 8q21.11 Deletion Syndrome | Alopecia Totalis | Cranial Nerve Disease | Hereditary Hemorrhagic Telangiectasia | Epidermal Nevus Syndrome | Nemaline Myopathy 10 | Renal Hypouricemia | Pemphigus Vulgaris | Hypotonia-cystinuria Syndrome | Cornelia De Lange Syndrome | Sitosterolemia | Canavan Disease | Hyperostosis | Scleritis | Portal Vein Thrombosis | Restless Legs Syndrome | Cystinosis | Language Disorders | Stargardt Disease | Leukemia-lymphoma, Adult T-cell | Sengers Syndrome | Hydronephrosis | Adenosine Deaminase Deficiency | Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive 1 | Sarcoidosis | Polycystic Kidney, Autosomal Recessive | Purpura, Thrombotic Thrombocytopenic | Blepharophimosis Syndrome | Early Infantile Epileptic Encephalopathy 1 | Parkinson Disease 6, Autosomal Recessive Early-onset | Liddle Syndrome | Primary Hyperoxaluria Type 1 | Acral Lentiginous Melanoma | Methemoglobinemia | Pure Red Cell Aplasia | Cancer, Breast | Parvovirus B19 Infection | Cushing Syndrome | Pseudohypoparathyroidism Type 1B | Cardiospondylocarpofacial Syndrome | Ischemia | Schindler Disease | Micro Syndrome | Epidermolysis Bullosa Simplex | Fetal Alcohol Syndrome | Spitzoid Melanoma | Familial Glucocorticoid Deficiency | Goiter, Nodular | Mitochondrial Myopathy | Macular Degeneration | Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive 2 | Prurigo Nodularis | Heimler Syndrome | Leukoplakia | Carcinoma, Small Cell | Rhizomelic Chondrodysplasia Punctata | Congenital Fiber-type Disproportion Myopathy | Oligoasthenoteratozoospermia | Neuroblastoma | Impulse Control Disorder | Congestive Heart Failure | Acromesomelic Dysplasia | Periventricular Nodular Heterotopia | Ornithine Transcarbamylase Deficiency | Cold Agglutinin Disease | Mitochondrial DNA Depletion Syndrome, Hepatocerebral Form | Graft-versus-host Disease | Myopia | Meesmann Corneal Dystrophy | Astrocytoma | Coffin-Siris Syndrome | Spinocerebellar Ataxia Type 20 | Cardiomyopathy, Hypertrophic | Anuria | Thrombophlebitis | DiGeorge Syndrome | Lymphoma Lymphoblastic | Sickle Cell Anemia | Rhabdoid Tumor | Cerebrotendinous Xanthomatosis | Histiocytic Sarcoma | Cystitis | Cysticercosis | Glycogen Storage Disease Type 1a | Hypotrichosis, Congenital, With Juvenile Macular Dystrophy | Desbuquois Syndrome | Rolandic Epilepsy | Ichthyosis Bullosa Of Siemens | Hyperparathyroidism | Glycogen Storage Disease Type 0 | Saethre-Chotzen Syndrome | Waldenstrom Macroglobulinemia | Adenoma, Villous | Leukodystrophies | Charcot-Marie-Tooth Disease, Type 2C | Congenital Afibrinogenemia | Meleda Disease | Ichthyosis, X-linked | Pseudohypoaldosteronism | Histiocytosis | Cat Eye Syndrome | Congenital Muscular Dystrophy | Pneumococcal Meningitis | Migraine | Hemangioblastoma | Cone Dystrophy | Spinocerebellar Ataxia Type 8 | Crigler-Najjar Syndrome | Mitochondrial DNA Depletion Syndrome, Myopathic Form | Deafness, Dystonia, And Cerebral Hypomyelination | Epidermolytic Hyperkeratosis | Oligoastrocytoma | TARP Syndrome | Subacute Sclerosing Panencephalitis | Sleep Apnea, Central | WAGR Syndrome | Schnitzler Syndrome | GNE Myopathy | Pierson Syndrome | Hartnup Disease | Marinesco-Sjogren Syndrome | Hypokalemia | Heterotopic Ossification