Proteus Syndrome
Proteus Syndrome
About the Disease
Proteus Syndrome, also known as partial gigantism-nevi-hemihypertrophy-macrocephaly syndrome, is related to hemimegalencephaly and lipomatosis, multiple. An important gene associated with Proteus Syndrome is AKT1 (AKT Serine/Threonine Kinase 1), and among its related pathways/superpathways are ERK Signaling and Disease. Affiliated tissues include skin, lung and bone, and related phenotypes are scoliosis and kyphosis
Common Targets
G207 | AKT2 | KMT2A | PIK3CA | AKT3

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Other Diseases
Richter's Syndrome | Macrophage Activation Syndrome | Autoimmune Polyendocrinopathy Syndrome Type I | Benign Familial Pemphigus | Stickler Syndrome | Carney Triad | Epidermolysis Bullosa Simplex, Generalized | Hyperglycemia | Senior-Loken Syndrome | Gitelman Syndrome | Hemolytic Anemia | Hypersensitivity | Angiosarcoma | Basal Ganglia Disease | Ocular Hypertension | Herpes Genitalis | Combined Pituitary Hormone Deficiency | Albinism | Tuberculous Meningitis | Astrocytoma | Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis | Ligneous Conjunctivitis | L-2-Hydroxyglutaric Aciduria | Hemophilia | Placenta Previa | Platelet Disorders | Vitreoretinopathy, Proliferative | Poretti-Boltshauser Syndrome | Osteoporosis, Postmenopausal | Charcot-Marie-Tooth Disease Type 4B1 | Carbamoyl Phosphate Synthetase I Deficiency | Neurofibromatosis-Noonan Syndrome | Proteus Syndrome | Adenocarcinoma | Gerodermia Osteodysplastica | Otosclerosis | Dementia, Vascular | Familial Retinal Arterial Macroaneurysm | Hypocalcemia | Schindler Disease | Raine Syndrome | Sialidosis | Juvenile Myoclonic Epilepsy | Neural Tube Defect | Lymphoproliferative Disease, X-linked | Pantothenate Kinase-associated Neurodegeneration | Congenital Nephrotic Syndrome | Cutaneous Lupus Erythematosus | Sporadic Inclusion Body Myositis | Hypothalamic Obesity | Mucolipidosis | Stromal Corneal Dystrophy | Androgenic Alopecia | Peroxisomal Disorder | Agammaglobulinemia | Demyelinating Diseases | Spinocerebellar Ataxia Type 27 | Schizophrenia, Paranoid | Myoclonus | Myotonia | Systemic Lupus Erythematosus | Synpolydactyly | CEDNIK Syndrome | Alpha-thalassemia Myelodysplasia Syndrome | Abetalipoproteinemia | Mitochondrial Cytopathy | Bursitis | NDH Syndrome | Sleep Apnea, Obstructive | Irritable Bowel Syndrome | Focal Dermal Hypoplasia | Hyperlipidemia, Familial Combined | Peripheral Neuropathy | Hypopituitarism | Anuria | Encephalitis | Huntington's Disease-like 2 | Hypertrophy | Keratosis, Actinic | Familial Partial Lipodystrophy | Leukocyte Adhesion Deficiency Type 1 | Congenital Adrenal Hyperplasia | Perivascular Epithelioid Cell Tumor | Arthrogryposis | Malignant Peripheral Nerve Sheath Tumor | Primary Hyperoxaluria | Avian Influenza | Loeys-Dietz Syndrome | Endocarditis | Juvenile Hyaline Fibromatosis | Hypercholesterolemia | Pituitary Dwarfism | Wolfram Syndrome 2 | Waardenburg Syndrome | Fanconi Syndrome | Pyelonephritis | Exocrine Pancreatic Insufficiency | Pathological Gambling | Cystitis, Interstitial | Purpura | Patent Ductus Arteriosus | Anencephaly | Hypoparathyroidism | Metatropic Dysplasia | Familial Glucocorticoid Deficiency | Spondyloepiphyseal Dysplasia Tarda, X-linked | ICF Syndrome | Infectious Diarrhea | Autism Spectrum Disorders | Delayed Sleep Phase Syndrome | Greenberg Dysplasia | Schizencephaly | Omenn Syndrome | Lung Diseases | Granuloma Annulare | Lipid Metabolism Disorders | Periodontitis | Hydrocephalus | Galactosemia | Central Retinal Artery Occlusion | Pituitary Stalk Interruption Syndrome | Kindler Syndrome | B-cell Prolymphocytic Leukemia | Photosensitivity | Blau Syndrome | Restrictive Dermopathy | Hypermethioninemia | Glutaric Aciduria Type 3 | Leigh Syndrome | Takayasu's Arteritis | Hypolipoproteinemia | Growth Hormone Excess | H Syndrome | Sepiapterin Reductase Deficiency | Gestational Trophoblastic Disease | Lipid Storage Diseases | Porencephaly | Gangliosidosis, GM1 | Usher Syndrome | Sponastrime Dysplasia | D-2-Hydroxyglutaric Aciduria | Acute Motor Axonal Neuropathy | Glaucomatocyclitic Crisis | Holt-Oram Syndrome | Robinow Syndrome | Thrombophlebitis | HELLP Syndrome | Porphyria | Erythropoietic Protoporphyria | Granular Corneal Dystrophy | Parvovirus B19 Infection | Long-chain 3-hydroxyacyl-coenzyme A Dehydrogenase Deficiency | Spinocerebellar Ataxia Type 17 | Atopy | Miyoshi Myopathy | Paternal Uniparental Disomy Of Chromosome 14 | Fundus Albipunctatus | Papillorenal Syndrome | Erdheim-Chester Disease | Pyruvate Dehydrogenase Deficiency | Histiocytosis | Erectile Dysfunction | SAPHO Syndrome | Oligodendroglioma | Scapuloperoneal Myopathy, X-linked Dominant | Eosinophilic Asthma | Multiple Sclerosis, Chronic Progressive | Palmoplantar Keratoderma | Neuropathy | Pemphigus | Colitis, Microscopic | Esophageal Adenocarcinoma | Hyperuricemia | Hypertension, Essential | Carpal Tunnel Syndrome | Osteogenesis Imperfecta Type V | Early Infantile Epileptic Encephalopathy 4 | Nasodigitoacoustic Syndrome | Craniometaphyseal Dysplasia | Aarskog-Scott Syndrome | Emery-Dreifuss Muscular Dystrophy | Muscle Wasting | Eclampsia | Persistent Fetal Circulation | Leukoplakia, Oral | Meningococcal Meningitis | Polymyositis | GLUT1 Deficiency Syndrome | Postaxial Polydactyly | Lichen Sclerosus | Pulmonary Vein Stenosis | Periventricular Leukomalacia | Pitt-Hopkins Syndrome | Pseudohypoparathyroidism Type 1A | Postpoliomyelitis Syndrome | Trichotillomania | Sitosterolemia | Kohlschutter-Tonz Syndrome | Dupuytren Disease | Congenital Afibrinogenemia | Deafness, Dystonia, And Cerebral Hypomyelination | Seizures | Cabezas Syndrome | Platyspondylic Lethal Skeletal Dysplasia, Torrance Type | Thrombocytopenia | Cenani-Lenz Syndactyly Syndrome | Porokeratosis | Neovascular Glaucoma | Achondrogenesis | Adenoma, Pleomorphic | Graves Disease | Polycystic Ovary Syndrome | Pierson Syndrome | Gnathodiaphyseal Dysplasia | Essential Fructosuria | Cat Eye Syndrome | Mastitis | Dysgerminoma | Hyperkalemic Periodic Paralysis | Fetal And Neonatal Alloimmune Thrombocytopenia | Insulin Resistance | Polyneuropathy | DNA Ligase IV Deficiency | Zygomycosis | Pseudohypoparathyroidism Type 1B | Hepatitis D | Bone Marrow Necrosis | DOCK8 Immunodeficiency Syndrome | Primary Aldosteronism | Thyroiditis | Microvillus Inclusion Disease | Dengue Hemorrhagic Fever | Metabolic Syndrome | Spinocerebellar Ataxia Type 1 | Craniosynostosis | Metachondromatosis | Familial Thoracic Aortic Aneurysm | Osteochondroma | Nevus | Schamberg Disease | Marfan Syndrome | Angelman Syndrome | Hyperparathyroidism | Glutathione Synthetase Deficiency | Cousin Syndrome | Usher Syndrome Type III | Epidermolysis Bullosa | Aspergillosis | Nemaline Myopathy 8 | Aromatic L-amino Acid Decarboxylase Deficiency | Hypoalbuminemia | Myoclonus-dystonia Syndrome | Neuromyotonia | Hemorrhagic Disorders | Interstitial Lung Diseases | Coffin-Lowry Syndrome | Micro Syndrome | Cardiomyopathy, Hypertrophic | B-cell Chronic Lymphocytic Leukemia | Dermatomyositis | Renal-hepatic-pancreatic Dysplasia | Hydrops Fetalis | Multiple Hamartoma Syndrome | Rheumatic Heart Disease | Hyperinsulinemic Hypoglycemia | Constipation | Primary Torsion Dystonia | Thanatophoric Dysplasia | Stroke, Hemorrhagic | Cerebrovascular Disorders | Arthritis, Gouty | Leukemia | Hyperlipidemia | Diastrophic Dysplasia | Dowling-Degos Disease | Pyruvate Kinase Deficiency | Rhinitis | Poikiloderma With Neutropenia | Diabetes Insipidus, Nephrogenic | Brooke-Spiegler Syndrome | Heroin Dependence | Meconium Ileus | Cardiospondylocarpofacial Syndrome | Mucormycosis | Seasonal Mood Disorder | Rolandic Epilepsy | Keratoacanthoma | Congenital Diaphragmatic Hernia | Corneal Dystrophies, Hereditary | Ovarian Sex Cord-stromal Tumor | Kaposi Sarcoma | Hyperparathyroidism, Primary | Dermatitis Herpetiformis | Arthritis, Psoriatic | Histoplasmosis | X-linked Charcot-Marie-Tooth Disease | POEMS Syndrome | Myasthenia Gravis | Myocardial Infarction | Scleroderma | Familial Hyperaldosteronism | Primary Lateral Sclerosis | Hoyeraal-Hreidarsson Syndrome | Hepatitis E | Sick Sinus Syndrome | Evans Syndrome | Hemochromatosis Type 1 | Lymphoproliferative Disorders | Facioscapulohumeral Muscular Dystrophy Type 2 | DICER1 Syndrome | Cholesteryl Ester Storage Disease | Ehlers-Danlos Syndrome | Wagner Disease | Hepatorenal Syndrome | Lymphedema-distichiasis Syndrome | Congenital Ichthyosiform Erythroderma | Neurocutaneous Syndromes | Basal Ganglia Cerebrovascular Disease | Aldosterone Deficiency | Congenital Primary Aphakia | Filariasis | Cryopyrin-associated Periodic Syndromes | Hamartoma | Polyradiculopathy | Beckwith-Wiedemann Syndrome | Neurofibrosarcoma | Atelosteogenesis Type 1 | Dysferlinopathy | Pulmonary Capillary Hemangiomatosis | Neurofibromatosis | Microphthalmia | Primary Erythromelalgia | Spitz Nevus | Polycythemia Vera | Cutaneous Angiosarcoma | Herpes Simplex Dermatitis | Sarcoidosis, Pulmonary | Swine Influenza | Hemorrhoids | Neuroblastoma | Calcium Pyrophosphate Deposition Disease | Nijmegen Breakage Syndrome | Compartment Syndrome | Ganglioglioma | Conn Syndrome | Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy | Majeed Syndrome | Amyotrophic Lateral Sclerosis-parkinsonism-dementia Complex | Carcinoid Tumor | Extramammary Paget's Disease | Discoid Lupus Erythematosus | Microcephalic Osteodysplastic Primordial Dwarfism, Type I | Sleep Disorder | Hypophosphatemic Rickets With Hypercalciuria, Hereditary | Von Hippel-Lindau Disease | WAGR Syndrome | Chronic Inflammatory Demyelinating Polyneuropathy | Tumoral Calcinosis | Borderline Personality Disorder | Trichorhinophalangeal Syndrome | Raynaud Phenomenon | Acquired Partial Lipodystrophy | Obesity | Klippel-Feil Syndrome | Mitochondrial Encephalomyopathy | Leri Pleonosteosis | Congenital Heart Block | Primary Progressive Nonfluent Aphasia | Hemosiderosis | Leri-Weill Dyschondrosteosis | Leprosy | Craniofacial Dysostosis | Barrett Esophagus | Keratocystic Odontogenic Tumor | Thalassemia, Beta | Cancer, Kidney | Adams-Oliver Syndrome | Spondyloperipheral Dysplasia | T-cell Leukemia | Sclerosteosis 2 | Blomstrand Osteochondrodysplasia | Disseminated Superficial Actinic Porokeratosis | T-cell Lymphoma, Subcutaneous Panniculitis-like | Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive 1 | Primary Familial Brain Calcification | Epidermolysis Bullosa Dystrophica | Combined Deficiency Of Factor V And Factor VIII | Scleroderma, Diffuse | Mesial Temporal Lobe Epilepsy With Hippocampal Sclerosis | Ichthyosis, X-linked | Ghosal Syndrome | Tetraplegia | Epidermal Nevus Syndrome | Spondylo-megaepiphyseal-metaphyseal Dysplasia | Congenital Bilateral Absence Of Vas Deferens | Pneumonia, Mycoplasma | Diabetes | Episodic Ataxia Type 1 | Osteomalacia | Schwartz-Jampel-Aberfeld Syndrome