Hereditary Multiple Exostoses

About the Disease
Enchondromatosis, Multiple, Ollier Type, also known as enchondromatosis, is related to exostoses, multiple, type i and hereditary multiple osteochondromas, and has symptoms including pain An important gene associated with Enchondromatosis, Multiple, Ollier Type is IDH1 (Isocitrate Dehydrogenase (NADP(+)) 1), and among its related pathways/superpathways are Signal Transduction and Presynaptic function of Kainate receptors. The drug Isotretinoin has been mentioned in the context of this disorder. Affiliated tissues include bone, skin and liver, and related phenotypes are micromelia and visceral angiomatosis

Common Targets
EXT1 | EXT2 | TCF7L2

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Other Diseases

Creatine Deficiency Syndrome Due To AGAT Deficiency | Oculocutaneous Albinism Type 2 | Meningioma | Pituitary Dwarfism | Situs Inversus | Spinal And Bulbar Muscular Atrophy | Hemochromatosis Type 2 | Chorea | Periventricular Leukomalacia | Ehlers-Danlos Syndrome | Giant Axonal Neuropathy | Ichthyosis | Cystinosis | Pierson Syndrome | Brenner Tumor | GM2-gangliosidosis AB Variant | Cousin Syndrome | Liddle Syndrome | Arthritis, Reactive | Chondrodysplasia Punctata | Distal Spinal Muscular Atrophy | Oguchi Disease-2 | Infertility, Male | Charcot-Marie-Tooth Disease Axonal Type 2N | Glycogen Storage Disease | Cranial Nerve Disease | Frontotemporal Dementia | Narcolepsy | Focal Facial Dermal Dysplasia | Pompe Disease | Sarcoma, Ewing | Alkaptonuria | Epilepsy | Arterial Tortuosity Syndrome | Gray Platelet Syndrome | Anovulation | Tyrosinemia Type 2 | Castleman Disease | Carpal Tunnel Syndrome | Odonto-onycho-dermal Dysplasia | Hypophosphatemic Rickets, Autosomal Recessive, 1 | Acne | Carcinoma, Signet Ring Cell | Acute Myeloid Leukemia | Distal Myopathy 2 | Angioedema | Hepatic Adenomatosis | Malnutrition | Spondylosis | Bruck Syndrome | Ependymoma | Coronary Artery Disease | Asthma, Exercise-induced | Osteochondrosis | Osteogenesis Imperfecta Type VI | Knobloch Syndrome | Hepatoblastoma | Triphalangeal Thumb-polysyndactyly Syndrome | Exocrine Pancreatic Insufficiency | Myotonia | Addison Disease | Anal Fissure | Muscular Dystrophy | T-cell Prolymphocytic Leukemia | Acne Vulgaris | Bicuspid Aortic Valve | Myotonic Disorders | Maple Syrup Urine Disease | Distal Myopathy | Cirrhosis | Myoclonus-dystonia Syndrome | Blue Rubber Bleb Nevus Syndrome | Japanese Encephalitis | Hartnup Disease | Poirier-Bienvenu Neurodevelopmental Syndrome | Seasonal Mood Disorder | Hypertension, Essential | Hypoparathyroidism | Primary Hyperoxaluria Type 3 | Multiple Congenital Anomalies-hypotonia-seizures Syndrome 2 | Sclerosteosis | Herpes Genitalis | Familial Episodic Pain Syndrome | Lennox-Gastaut Syndrome | Irritable Bowel Syndrome | HANAC Syndrome | Erythropoietic Protoporphyria | Cerebrovascular Disorders | Malaria | Familial Hemiplegic Migraine | Abetalipoproteinemia | Patent Ductus Arteriosus | Porphyria, Acute Intermittent | Angelman Syndrome | Hereditary Neuropathy With Liability To Pressure Palsies | Globozoospermia | Ganglioglioma | Hennekam Lymphangiectasia-lymphedema Syndrome | Alopecia Totalis | Hypertriglyceridemia | Lymphedema-distichiasis Syndrome | Primary Familial Brain Calcification | Mixed Connective Tissue Disease | COACH Syndrome | Venous Insufficiency | Spinocerebellar Ataxia Type 20 | DiGeorge Syndrome | Congenital Heart Block | Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive 1 | Schistosomiasis | Reticular Dysgenesis | Vitamin B12 Deficiency | Metabolic Syndrome | Schuurs-Hoeijmakers Syndrome | Hepatitis, Chronic | Gastrointestinal Disorders | Sjogren Syndrome | Menetrier Disease | Fascioliasis | Congenital Hereditary Endothelial Dystrophy Type II | Waardenburg Syndrome Type 4 | Idiopathic Multicentric Castleman Disease | Teratozoospermia | Liver Failure, Acute Infantile | Esotropia | Palsy, Cerebral | 3C Syndrome | Waardenburg Syndrome Type 1 | Occipital Neuralgia | Mohr-Tranebjaerg Syndrome | Oral Lichen Planus | Persistent Mullerian Duct Syndrome | Paroxysmal Nocturnal Hemoglobinuria | Ghosal Syndrome | Chronic Thromboembolic Pulmonary Hypertension | Oligoastrocytoma | Neuroleptic Malignant Syndrome | Cardiomyopathy, Dilated, 1L | Allan-Herndon-Dudley Syndrome | Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis | Geleophysic Dysplasia | Ovarian Hyperstimulation Syndrome | Syndactyly | Bipolar Disorder | Diabetes Insipidus, Nephrogenic | Multicystic Renal Dysplasia | Colitis | Mitochondrial Cytopathy | Arts Syndrome | Zollinger-Ellison Syndrome | Anthrax | Gerstmann-Straussler-Scheinker Syndrome | Progressive Familial Intrahepatic Cholestasis Type 1 | Alcoholism | Thyroid Dysgenesis | Batten Disease | Hypospadias | Anti-glomerular Basement Membrane Disease | Pontocerebellar Hypoplasia | Tetanus | Alexander Disease | Amyotrophic Lateral Sclerosis | Frank-ter Haar Syndrome | Congenital Nystagmus | Pearson Syndrome | Fibromuscular Dysplasia | Speech Disorders | Atelosteogenesis Type 2 | Myeloid Leukemia | Hemangioma | Histiocytosis | Glycogen Storage Disease Type 6 | PHARC Syndrome | Adenomyosis | Noonan Syndrome-like Disorder With Loose Anagen Hair | Martsolf Syndrome | Glaucomatocyclitic Crisis | Vici Syndrome | Intracranial Hypertension | Pain | Congestive Heart Failure | Coronary Heart Disease | Vulvovaginitis | Cheilitis | Cole-Carpenter Syndrome | Porencephaly | Glomerulonephritis, Membranous | Swine Influenza | Ectodermal Dysplasia | Homocystinuria | Encephalitis, Tick-borne | Congenital Fiber-type Disproportion Myopathy | Arthritis, Gouty | Peripheral T-cell Lymphoma | Hypoalbuminemia | Onchocerciasis | Rothmund-Thomson Syndrome | Neurodermatitis | Hypertension, Pulmonary | Multiple Sclerosis, Chronic Progressive | Hartsfield Syndrome | Temporal Lobe Epilepsy | Glycogen Storage Disease Type 0 | Epiphyseal Chondrodysplasia, Miura Type | Cystitis, Interstitial | Charcot-Marie-Tooth Disease Type 4D | Thyroiditis, Autoimmune | Lysosomal Acid Lipase Deficiency | Pancytopenia | Cavitary Optic Disc Anomalies | Chronic Inflammatory Demyelinating Polyneuropathy | Uveitis, Anterior | CEDNIK Syndrome | Congenital Diaphragmatic Hernia | Takotsubo Cardiomyopathy | Yellow Fever | Epilepsy Of Infancy With Migrating Focal Seizures | Pleural Tuberculosis | Lathosterolosis | Hypertension, Renovascular | Cataract | Reye Syndrome | Charcot-Marie-Tooth Disease Type 2D | Acute Chest Syndrome | Adult Polyglucosan Body Disease | Retinal Coloboma | Charcot-Marie-Tooth Disease Type 4 | Hypervalinemia | Kashin-Beck Disease | Schizotypal Personality Disorder | Klinefelter Syndrome | Renal Dysplasia | Potocki-Shaffer Syndrome | Tetraplegia | X-linked Charcot-Marie-Tooth Disease | Protein C Deficiency | 6-pyruvoyl-tetrahydropterin Synthase Deficiency | Restrictive Dermopathy | Cystinuria | Fuchs Dystrophy | Charcot-Marie-Tooth Disease, Type 6 | Diabetes Insipidus | Scleroderma, Diffuse | Autosomal Recessive Spastic Paraplegia Type 54 | Urolithiasis | Angiodysplasia | Hereditary Xerocytosis | Chronic Idiopathic Myelofibrosis | Bulimia Nervosa | Kallmann Syndrome | Erysipelas | Tularemia | Pulmonary Capillary Hemangiomatosis | Chronic Kidney Disease | Parkinson's Disease | Aicardi-Goutieres Syndrome | Diverticulitis | Sertoli Cell-only Syndrome | Epidermolytic Hyperkeratosis | Otitis Externa | Brugada Syndrome 1 | Carcinoma In Situ | Scleroderma | Microcephalic Primordial Dwarfism | Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic | Microtia | Brachydactyly | Optic Neuritis | Achondrogenesis | Trachoma | Motor Neuron Diseases | 3-methylglutaconic Aciduria | Hemoglobinopathies | Facioscapulohumeral Muscular Dystrophy Type 1 | Rhabdomyosarcoma, Embryonal | Anorectal Fistula | Pulmonary Sclerosing Hemangioma | Guttate Psoriasis | Pyoderma Gangrenosum | Amyloidosis | Glycogen Storage Disease Type 1 | Blomstrand Osteochondrodysplasia | Splenomegaly | Progressive Encephalopathy-optic Atrophy Syndrome | Leri-Weill Dyschondrosteosis | Hypertrophy | Juvenile Hyaline Fibromatosis | Hypotrichosis, Congenital, With Juvenile Macular Dystrophy | Neurofibromatosis-Noonan Syndrome | Sitosterolemia | Osteoporosis | Coronary Restenosis | Actinomycetoma | Chylothorax, Congenital | LMNA-related Congenital Muscular Dystrophy | Sarcosinemia | Cryoglobulinemia | GNE Myopathy | Juvenile Polyposis | Beare-Stevenson Syndrome | Poikiloderma With Neutropenia | Chanarin-Dorfman Syndrome | Tracheal Disorders | Carcinoid Syndrome | Camptocormia | Osteoporosis, Postmenopausal | Depression | Autosomal Recessive Congenital Ichthyosis | Spinocerebellar Ataxia Type 14 | Lymphoma, Primary Cutaneous Anaplastic Large Cell | Antenatal Bartter Syndrome Type 1 | Rheumatoid Arthritis | Autism Spectrum Disorders | Iron Metabolism Disorders | Prediabetes | Gastroschisis | H Syndrome | Hemorrhage | Extramammary Paget's Disease | Hemochromatosis Type 1 | Esophageal Motility Disorders | Blastoma, Pleuropulmonary | Meesmann Corneal Dystrophy | Generalized Epilepsy And Paroxysmal Dyskinesia | 3-hydroxy-3-methylglutaric Aciduria | Spinocerebellar Ataxia Type 31 | Exotropia | Idiopathic Pulmonary Fibrosis | Cold-induced Sweating Syndrome | Best Macular Dystrophy | Arthritis, Psoriatic | Cleidocranial Dysplasia | Hyperostosis | Metanephric Adenoma | TARP Syndrome | Angioedema, Acquired | Varices | Cutaneous Angiosarcoma | Pseudoachondroplasia | Diabetes Insipidus, Neurogenic | Macular Degeneration | Acute Tubular Necrosis | Alpha-1 Antitrypsin Deficiency | Hypogammaglobulinemia | Trichothiodystrophy | Hereditary Hemorrhagic Telangiectasia | Ligneous Conjunctivitis | Encephalocele | VACTERL Association | Multicentric Carpotarsal Osteolysis Syndrome | Loeys-Dietz Syndrome Type 4 | Polycystic Kidney, Autosomal Recessive | Basan Syndrome | Asphyxia Neonatorum | Spondylocostal Dysostosis | Periodic Limb Movement Disorder | Parkinsonism | Endometritis | Meckel-Gruber Syndrome | Chronic Myeloid Leukemia | Headache | Stroke | Spondyloepiphyseal Dysplasia Tarda, X-linked | DEND Syndrome | Basal Ganglia Disease, Biotin-responsive | Nephroblastoma | Polymicrogyria | Impulse Control Disorder | Hypotonia-cystinuria Syndrome | Tumoral Calcinosis | Cryptosporidiosis | Renal Tubular Dysgenesis | Retinopathy Of Prematurity | Spinocerebellar Ataxia Type 15 | Osteogenesis Imperfecta Type I | Meningioma, Benign | Lymphomatoid Granulomatosis | Becker Muscular Dystrophy | Carney Triad | Congenital Primary Aphakia | Primrose Syndrome | Congenital Aniridia | L-2-Hydroxyglutaric Aciduria | Ebstein Anomaly | Disseminated Superficial Actinic Porokeratosis | Stuttering | McLeod Syndrome | Hereditary Pyropoikilocytosis | Common Variable Immunodeficiency | Chylomicron Retention Disease | Proctitis | Essential Fructosuria | Anorchia | Bone Marrow Necrosis | Congenital Tufting Enteropathy | Gastritis, Atrophic | HUPRA Syndrome | Alpha-thalassemia Myelodysplasia Syndrome | Familial Hypobetalipoproteinemia | Lymphoma, Mantle Cell