Osteogenesis Imperfecta

About the Disease
Brittle Bone Disorder, also known as osteogenesis imperfecta, is related to osteogenesis imperfecta, type i and osteogenesis imperfecta, type ii, and has symptoms including back pain, muscle cramp and sciatica. An important gene associated with Brittle Bone Disorder is COL1A2 (Collagen Type I Alpha 2 Chain), and among its related pathways/superpathways are PI3K-Akt signaling pathway and Collagen chain trimerization. The drugs Pamidronic acid and Alendronic acid have been mentioned in the context of this disorder. Affiliated tissues include bone, bone marrow and eye, and related phenotypes are carious teeth and pectus carinatum

Common Targets
SKIC2 | TAPT1 | TNFSF11 | PPIB | LRP5 | PLOD2 | SOST | SLC7A7 | CCDC134 | SEC24D | MESD | SPARC | BMP1 | COL5A1 | COL1A2 | P3H1 | FKBP10 | TGFB1 | P4HB | FDPS | TGFB2 | CREB3L1 | GHR | COL10A1 | SERPINH1 | TENT5A | PTH1R | IFITM5 | NBAS | CRTAP | SP7 | CALCR | TGFB3 | NUDT6 | SIGLEC15 | WNT1 | GGPS1 | TMEM38B | Parathyroid Hormone Receptors (PTHR) (nonspecified subtype) | VDR | MBTPS2 | SERPINF1 | G4318 | ARID1B | COL1A1 | CCN1

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Other Diseases

Polymyositis | Hypersensitivity | Lissencephaly 2 | Multifocal Motor Neuropathy | Neuroma | Relapsing Polychondritis | Pulmonary Veno-occlusive Disease | Cole-Carpenter Syndrome | Fibrosis | Sickle Cell Disease | Vogt-Koyanagi-Harada Syndrome | Optic Nerve Hypoplasia, Bilateral | Adams-Oliver Syndrome | Kernicterus | Retinal Diseases | Hypoalbuminemia | Babesiosis | Stargardt Disease | Sjogren Syndrome | Hypodontia | Spinocerebellar Ataxia Type 27 | Dementia, Vascular | Gnathodiaphyseal Dysplasia | Mycosis Fungoides | Reye Syndrome | Myofibromatosis | Stuttering | Neuromyelitis Optica | Epidermolysis Bullosa Dystrophica | Hypotrichosis, Congenital, With Juvenile Macular Dystrophy | Osteogenesis Imperfecta Type IV | Raynaud Phenomenon | Thromboembolism | Frontometaphyseal Dysplasia | Scabies | Granular Corneal Dystrophy Type 1 | Metanephric Adenoma | Dysgerminoma | Chanarin-Dorfman Syndrome | Combined Pituitary Hormone Deficiency | Amyotrophic Lateral Sclerosis-parkinsonism-dementia Complex | Hypospadias | Familial Cerebral Amyloid Angiopathy | Congenital Tufting Enteropathy | Choroiditis | Epidermolysis Bullosa Simplex, Dowling-Meara Type | Hernia, Inguinal | Acne | Aarskog-Scott Syndrome | Cystitis, Interstitial | Astrocytoma | Mabry Syndrome | KBG Syndrome | Angiosarcoma Of The Breast | VEXAS Syndrome | Angioedema, Acquired | Meniere's Disease | Chudley-McCullough Syndrome | Adenoid Cystic Carcinoma | Transient Bullous Dermolysis Of The Newborn | Niemann-Pick Disease, Type C | Hypophosphatemic Rickets, Autosomal Recessive, 1 | Tardive Dyskinesia | Cockayne Syndrome | Encephalitis | Ganglioneuroma | Inflammatory Bowel Disease | Rhabdomyosarcoma, Alveolar | Acquired Partial Lipodystrophy | Familial Mediterranean Fever | Tremor | Corneal Dystrophy And Perceptive Deafness | Vulvovaginitis | Ganglioglioma | Intestinal Hypomagnesemia 1 | Oligodendroglioma | Glioma | Huntington's Disease | Chromosome 5q Deletion Syndrome | Walker-Warburg Syndrome | Acute Kidney Injury | Metachondromatosis | Schizoaffective Disorder | Intestinal Pseudo-obstruction | Vitamin B12 Deficiency | Stuve-Wiedemann Syndrome | Malonyl-CoA Decarboxylase Deficiency | Hypersensitivity Pneumonitis | Congenital Hemolytic Anemia | Alopecia | Progressive Familial Intrahepatic Cholestasis Type 2 | Diamond-Blackfan Anemia | Juvenile Hyaline Fibromatosis | Pemphigus Foliaceus | Nemaline Myopathy | Rolandic Epilepsy | Paraplegia | Charcot-Marie-Tooth Disease, Type 6 | Coronary Heart Disease | Combined Malonic And Methylmalonic Acidemia | Progressive Osseous Heteroplasia | Sclerosteosis 2 | Cousin Syndrome | Persistent Hyperplastic Primary Vitreous | Episodic Ataxia Type 1 | Myocarditis | Stroke, Ischemic | Blastomycosis | Vasculitis | Melanoma, Malignant | Polycystic Kidney, Autosomal Recessive | Kawasaki Disease | Corneal Neovascularization | Hereditary Neuropathy With Liability To Pressure Palsies | Metabolic Diseases | C3 Glomerulonephritis | Urolithiasis | Apert Syndrome | Periodontitis | Muir-Torre Syndrome | Exotropia | Bone Giant Cell Tumor | Primary Progressive Nonfluent Aphasia | Glioblastoma | Familial Hyperaldosteronism | Spinal Cord Diseases | Tuberculosis | Schindler Disease | Pulmonary Tuberculosis | Sarcoidosis | Cerebral Amyloid Angiopathy | Uterine Leiomyoma | Sotos Syndrome | Cholestasis, Intrahepatic | Sleep Disorder | Viral Meningitis | Jaundice, Obstructive | Neurofibromatosis-Noonan Syndrome | Carbamoyl Phosphate Synthetase I Deficiency | Hepatitis D | Amebiasis | Mesothelioma, Malignant | Familial Dysautonomia | Feingold Syndrome | Meningioma, Benign | Megalencephaly | Liver Failure, Acute Infantile | Exfoliative Dermatitis | Benign Familial Infantile Seizures | Atelosteogenesis Type 2 | GLUT1 Deficiency Syndrome | Glutathione Synthetase Deficiency | Asthma, Nocturnal | Spinocerebellar Ataxia Type 16 | Trichuriasis | Dysequilibrium Syndrome | Congenital Adrenal Hyperplasia | Blomstrand Osteochondrodysplasia | Retinitis Pigmentosa 3 | Schistosomiasis Mansoni | Agnathia-Otocephaly Complex | Adult Polyglucosan Body Disease | Arthritis, Reactive | Heroin Dependence | Spinocerebellar Ataxia Type 6 | Acromesomelic Dysplasia | Neurofibroma, Plexiform | Epithelial-myoepithelial Carcinoma | Hyperparathyroidism | Familial Hemiplegic Migraine | Leukemia | Erythema Multiforme | Tietze Syndrome | Cryoglobulinemia | Blue Rubber Bleb Nevus Syndrome | Long-chain 3-hydroxyacyl-coenzyme A Dehydrogenase Deficiency | Hidradenitis | VACTERL/VATER Association | Osteosarcoma | Diabetes Insipidus, Nephrogenic | Fibrillation, Atrial | Hyperinsulinism-hyperammonemia Syndrome | Renal Hypomagnesemia 3 | Oculodentodigital Dysplasia | Myotonic Disorders | Atrioventricular Septal Defect | 3-methylcrotonyl-CoA Carboxylase Deficiency | Otosclerosis | Neuroblastoma | Charcot-Marie-Tooth Disease Type 4D | Lung Diseases | Oral Lichen Planus | Hemophagocytic Lymphohistiocytosis | Mountain Sickness | Trichothiodystrophy | Gangliosidosis | Dyslexia | Pernicious Anemia | Chylomicron Retention Disease | VACTERL Association | Synpolydactyly | Influenza | Phosphoglycerate Dehydrogenase Deficiency | Meningococcal Meningitis | Diabetes Gestational | Lateral Meningocele Syndrome | Idiopathic Multicentric Castleman Disease | Carcinoma, Transitional Cell | Anovulation | Multiple Myeloma | Mesial Temporal Lobe Epilepsy With Hippocampal Sclerosis | Colitis, Lymphocytic | Esotropia | PHARC Syndrome | Poikiloderma With Neutropenia | Antithrombin III Deficiency | Pyloric Stenosis, Infantile Hypertrophic | Liver Diseases | Bethlem Myopathy | Cardiomyopathy, Dilated, 1L | Myoclonus | PASLI Disease | Emery-Dreifuss Muscular Dystrophy | Rhabdomyosarcoma | Dowling-Degos Disease | Hepatitis A | X-linked Charcot-Marie-Tooth Disease | Antisynthetase Syndrome | Echinococcosis | Reflex Epilepsy | Pulmonary Alveolar Proteinosis | Mitochondrial DNA Depletion Syndrome, Myopathic Form | Charcot-Marie-Tooth Disease, Type 2A | Pierson Syndrome | Erysipelas | Charcot-Marie-Tooth Disease Type 4E | Crimean-Congo Hemorrhagic Fever | Patent Foramen Ovale | Charcot-Marie-Tooth Disease, Type 1A | Osteomyelitis | Steel Syndrome | Hypophosphatasia | Cerebrotendinous Xanthomatosis | Apraxia | Neurodevelopmental Disorders | Triple A Syndrome | Diastrophic Dysplasia | DRESS Syndrome | Medulloblastoma | Carcinoma, Signet Ring Cell | Cholelithiasis | Benign Familial Neonatal Convulsions | Hyperthermia, Malignant | Papulopustular Rosacea | Addison Disease | Osteoglophonic Dysplasia | Retinoblastoma | Spinocerebellar Ataxia Type 5 | Acute Coronary Syndrome | Panic Disorder | Ehlers-Danlos Syndrome | Chronic Beryllium Disease | Thyrotoxic Periodic Paralysis | Hypotension, Orthostatic | Epidermolytic Hyperkeratosis | Krabbe Disease | Schwannomatosis | Priapism | Hyperferritinemia-cataract Syndrome | Fucosidosis | Duchenne Muscular Dystrophy | Colon Adenoma | Erythematotelangiectatic Rosacea | Hidradenitis Suppurativa | Anti-NMDA Receptor Encephalitis | Plasma Cell Leukemia | Methemoglobinemia | Hereditary Elliptocytosis | Rubinstein-Taybi Syndrome | Spinocerebellar Ataxia Type 28 | Usher Syndrome Type IIC | Blepharospasm | Cholera | Cancer, Breast | N-acetylglutamate Synthase Deficiency | Iron Deficiency Anemia | Nemaline Myopathy 8 | Autoimmune Polyendocrinopathy Syndrome Type I | Follicular Dendritic Cell Sarcoma | Coloboma | Preaxial Polydactyly | Reticular Dysgenesis | Hypercholesterolemia, Familial | Majeed Syndrome | Asthma | Acute Anterior Uveitis | Jawad Syndrome | Budd-Chiari Syndrome | Cardiac Sarcoidosis | Von Willebrand Disease | Micro Syndrome | Myasthenia Gravis | Scapuloperoneal Myopathy, X-linked Dominant | Charcot-Marie-Tooth Disease Type 2E | Japanese Encephalitis | Hypertensive Retinopathy | Infertility | Ghosal Syndrome | Palmoplantar Keratoderma | Prolidase Deficiency | Hypertension, Renal | Eiken Syndrome | Pheochromocytoma | Heavy Chain Disease | Shwachman-Bodian-Diamond Syndrome | Arthrogryposis | Transcobalamin Deficiency | Congenital Diaphragmatic Hernia | Mood Disorder | Ebstein Anomaly | Prurigo Nodularis | Sengers Syndrome | Rhinitis | Acrocallosal Syndrome | Renal Dysplasia | Chronic Granulomatous Disease, X-linked | Myotonia | Fibronectin Glomerulopathy | Lichen Planus | Melnick-Needles Syndrome | Omenn Syndrome | Porphyria, Acute Intermittent | Nephroblastoma | Mucolipidosis Type IV | Synovitis | Congenital Dyserythropoietic Anemia Type 4 | Fatty Aldehyde Dehydrogenase Deficiency | Ichthyosis Bullosa Of Siemens | Hypertriglyceridemia | Glycogen Storage Disease Type 3 | FG Syndrome | Spinal And Bulbar Muscular Atrophy | Hemosiderosis | Spina Bifida | Perry Syndrome | Congenital Ichthyosiform Erythroderma | Cryptosporidiosis | Blau Syndrome | Bartsocas-Papas Syndrome | Usher Syndrome Type I | Sporadic Inclusion Body Myositis | Hyperkalemic Periodic Paralysis | Aceruloplasminemia | Thyroiditis, Autoimmune | ACTH-independent Macronodular Adrenal Hyperplasia | Cutaneous T-cell Lymphoma | Usher Syndrome | Aldosteronism | Patent Ductus Arteriosus | Marinesco-Sjogren Syndrome | Cataplexy | Tyrosinemia Type 1 | Mosaic Variegated Aneuploidy Syndrome 2 | ADNP Syndrome | Cancer, Bladder | Homocystinuria | Campomelic Dysplasia | Malaria, Cerebral | Distal Myopathy 2 | Primary Progressive Aphasia | Irritable Bowel Syndrome | Tumoral Calcinosis | Esthesioneuroblastoma | POEMS Syndrome | Hyperuricemia | Skin Fragility-woolly Hair Syndrome | Ectopia Lentis, Isolated, Autosomal Recessive | Antenatal Bartter Syndrome Type 1 | Waldenstrom Macroglobulinemia | Glycogen Storage Disease Type 4 | Agranulocytosis | Retinitis Pigmentosa | Familial Partial Lipodystrophy | Persistent Truncus Arteriosus | Lymphomatoid Granulomatosis | Pompe Disease | Takayasu's Arteritis | Cystinuria | Osteitis | Acanthosis Nigricans | Potocki-Shaffer Syndrome | Hemolytic Uremic Syndrome | Fibrosarcoma | Bacterial Meningitis | Primary Cutaneous Amyloidosis | Split Hand-foot Malformation | Adrenoleukodystrophy, X-linked | Measles | Syncope | Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3