Disease

D-2-Hydroxyglutaric Aciduria

About the Disease
D-2-Hydroxyglutaric Aciduria 1, also known as d-2-hydroxyglutaric aciduria, is related to d-2-hydroxyglutaric aciduria 2 and combined d-2- and l-2-hydroxyglutaric aciduria, and has symptoms including dyspnea, seizures and stridor. An important gene associated with D-2-Hydroxyglutaric Aciduria 1 is D2HGDH (D-2-Hydroxyglutarate Dehydrogenase), and among its related pathways/superpathways are Metabolism and "Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.". Affiliated tissues include brain, skeletal muscle and cortex, and related phenotypes are macrocephaly and intellectual disability

Common Targets
D2HGDH | IDH1 | IDH2 | PDLIM3 | SLC25A1

疾病靶点研报
D-2-Hydroxyglutaric Aciduria

Note: If you'd like to get a target analysis report for D-2-Hydroxyglutaric Aciduria, 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 D-2-Hydroxyglutaric Aciduria at a cost 90% lower than traditional approaches, please feel free to contact us at BD@silexon.ai.

Other Diseases

Lichen Sclerosus | Tatton-Brown-Rahman Syndrome | Asplenia | Papilledema | Myhre Syndrome | Fukuyama Congenital Muscular Dystrophy | Phenylketonuria | Rhabdomyosarcoma, Embryonal | Tibial Muscular Dystrophy | Filariasis | Fetal Alcohol Syndrome | Pneumothorax | Nager Acrofacial Dysostosis | Fetal Akinesia Deformation Sequence | Granuloma Annulare | Schwannoma | Cerebrotendinous Xanthomatosis | Myasthenia | Charcot-Marie-Tooth Disease Type 2T | Insulin Resistance | Acne Vulgaris | Pyruvate Kinase Deficiency | Kindler Syndrome | Rheumatic Heart Disease | Vitamin B12 Deficiency | Eosinophilia | Cole-Carpenter Syndrome | Astrocytoma, Anaplastic | McKusick Type Metaphyseal Chondrodysplasia | Irritable Bowel Syndrome | Down Syndrome | Gingivitis | Angioedema, Acquired | Hypertension | Acromicric Dysplasia | Atrial Septal Defect | Neurodegeneration Due To Cerebral Folate Transport Deficiency | Epidermolytic Hyperkeratosis | Craniosynostosis | GNE Myopathy | Amish Infantile Epilepsy Syndrome | Portal Vein Thrombosis | Rolandic Epilepsy | Cerebral Amyloid Angiopathy | Meningeal Melanocytoma | Limb Girdle Muscular Dystrophy | Nephrocalcinosis | Osteogenesis Imperfecta Type V | Wolfram Syndrome | Apraxia | Hypotension, Orthostatic | Patent Ductus Arteriosus | Glutaric Aciduria Type 1 | Intellectual Disability, Autosomal Dominant 5 | Multiple Sclerosis, Primary Progressive | Tinea Versicolor | Autoimmune Disease | Juvenile Xanthogranuloma | Dysequilibrium Syndrome | Schwannomatosis | Vitamin K Deficiency | Dubin-Johnson Syndrome | Carcinoid Tumor | Primary Ovarian Insufficiency | Congenital Dyserythropoietic Anemia Type 4 | Adenoma, Pituitary | Ligneous Conjunctivitis | Persistent Hyperplastic Primary Vitreous | Liver Failure, Acute Infantile | Pneumoconiosis | Spinocerebellar Ataxia Type 23 | Systemic Mastocytosis | Intermittent Claudication | Saul-Wilson Syndrome | Insulinoma | Fibrodysplasia Ossificans Progressiva | Postaxial Polydactyly | Pulmonary Tuberculosis | Familial Cerebral Amyloid Angiopathy | Hyperkalemic Periodic Paralysis | Kawasaki Disease | Angina Pectoris | Osteopetrosis | Porokeratosis | Lymphoma, Follicular | Nicolaides-Baraitser Syndrome | Sick Sinus Syndrome | Ovarian Sex Cord-stromal Tumor | Bicuspid Aortic Valve | Silicosis | Polyneuropathy | Melnick-Needles Syndrome | Spinocerebellar Ataxia Type 14 | Ventricular Septal Defect | Infertility, Male | Optic Neuropathy | Cholelithiasis | Sclerosteosis 2 | Anorexia Nervosa | Ocular Hypertension | Hemolytic Anemia | Systemic Lupus Erythematosus | Blepharophimosis Syndrome | Polycystic Liver | Proteasome-associated Autoinflammatory Syndrome 2 | Encephalopathy, Hepatic | Intestinal Tuberculosis | Okihiro Syndrome | Dyggve-Melchior-Clausen Disease | Waldenstrom Macroglobulinemia | Anuria | Stuttering | Multiple Sclerosis, Secondary Progressive | Thrombocytopenia | CEDNIK Syndrome | Congenital Ichthyosiform Erythroderma | Rosacea | Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies | Stroke, Hemorrhagic | Sialidosis | Hyperuricemic Nephropathy, Familial Juvenile | Myofibrillar Myopathy | Carney Triad | Malignant Fibrous Histiocytoma | Keratosis, Actinic | Smith-Lemli-Opitz Syndrome | Schindler Disease | Osteonecrosis Of The Jaw | Myocardial Infarction | Chronic Granulomatous Disease, X-linked | Paroxysmal Nocturnal Hemoglobinuria | Williams Syndrome | Aldosterone Synthase Deficiency | Megalencephaly | Retinal Dystrophy, Early-onset Severe | Cellulitis | Diabetes | Familial Digital Arthropathy-brachydactyly | Oculopharyngeal Muscular Dystrophy | Dwarfism | Microtia | Ichthyosis, X-linked | Sepiapterin Reductase Deficiency | Cholesteryl Ester Storage Disease | Cerebellar Ataxia, Cayman Type | Hodgkin Lymphoma | Osteochondroma | Chorioretinitis | Genitopatellar Syndrome | Spinal Muscular Atrophy Type 3 | Spinocerebellar Ataxia Type 17 | Microvillus Inclusion Disease | Influenza | Optic Nerve Hypoplasia, Bilateral | Loeys-Dietz Syndrome | N-acetylglutamate Synthase Deficiency | Chronic Granulomatous Disease | Sotos Syndrome | Purpura, Thrombotic Thrombocytopenic | Hairy Cell Leukemia | Autoimmune Polyendocrine Syndrome | Rett Syndrome | Hereditary Pyropoikilocytosis | Trichomegaly | Cramp Fasciculation Syndrome | Alpha-1 Antitrypsin Deficiency | Hyperbilirubinemia | Acute Coronary Syndrome | Neurocutaneous Syndromes | Hypokalemia | Pseudohypoparathyroidism Type 1A | Papulopustular Rosacea | Bladder Exstrophy | Heterotopic Ossification | Kernicterus | Postpartum Depression | Maternally Inherited Diabetes And Deafness | Hepatitis E | Osteomalacia | Tietze Syndrome | Marshall-Smith Syndrome | Milk Allergy | Enhanced S-cone Syndrome | Giant Cell Arteritis | Erdheim-Chester Disease | Growth Hormone Excess | Alpha-thalassemia Myelodysplasia Syndrome | Mevalonate Kinase Deficiency | Neurofibroma, Plexiform | DICER1 Syndrome | Hypertension, Essential | Pulmonary Stenosis | Osteogenesis Imperfecta | Inflammatory Linear Verrucous Epidermal Nevus | Tylosis With Esophageal Cancer | Stromal Corneal Dystrophy | Hepatitis, Chronic | Cat Eye Syndrome | L-2-Hydroxyglutaric Aciduria | Congenital Bile Acid Synthesis Defect | Sickle Cell Disease | Geleophysic Dysplasia | Pericarditis | Guanidinoacetate Methyltransferase Deficiency | Adenoid Cystic Carcinoma | 3-hydroxy-3-methylglutaryl-CoA Synthase Deficiency | Proteus Syndrome | Vitiligo | Rothmund-Thomson Syndrome | Colitis | Hypotrichosis Simplex | Keratoconjunctivitis | Speech Disorders | Waardenburg Syndrome Type 2E | Amyotrophic Lateral Sclerosis | Hereditary Inclusion Body Myopathy | Polydactyly | Primary Carnitine Deficiency | Necrobiosis Lipoidica | Congenital Hypofibrinogenemia | Microcephaly | Myotonia | Chronic Enteropathy Associated With SLCO2A1 Gene | Rotor Syndrome | Retinal Degeneration | Hypersensitivity Pneumonitis | SAPHO Syndrome | Corneal Dystrophy | Hyperinsulinemia | Fuchs Heterochromic Iridocyclitis | Menkes Disease | Rubeosis Iridis | Myoclonic Atonic Epilepsy | Adenocarcinoma | Deafness, Dystonia, And Cerebral Hypomyelination | Anti-glomerular Basement Membrane Disease | Ophthalmia, Sympathetic | Tumoral Calcinosis | Hereditary Folate Malabsorption | Medulloblastoma | Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic | Angiodysplasia | Gaze Palsy, Familial Horizontal, With Progressive Scoliosis, 2 | Pulmonary Veno-occlusive Disease | Ectodermal Dysplasia | Huntington's Disease | Lafora Disease | Shock, Cardiogenic | Oligodendroglioma | Carpal Tunnel Syndrome | C3 Glomerulopathy | Asphyxia Neonatorum | Aicardi-Goutieres Syndrome | Hepatoblastoma | Choroiditis | Gangliosidosis | Stomatitis | Gnathodiaphyseal Dysplasia | Chorea-acanthocytosis | Astigmatism | Blepharitis | Sertoli Cell-only Syndrome | Spinocerebellar Ataxia Type 3 | Marinesco-Sjogren Syndrome | Chronic Mucocutaneous Candidiasis | MIRAGE Syndrome | Benign Recurrent Intrahepatic Cholestasis 1 | Androgen Insensitivity | Emery-Dreifuss Muscular Dystrophy | Amblyopia | Glycogen Storage Disease Type 1b | Glaucoma | Gastric Atrophy | Cerebellofaciodental Syndrome | Stroke, Ischemic | Castleman Disease | NGLY1 Deficiency | Premature Ejaculation | Superficial Spreading Melanoma | Hypervalinemia | Angioedema | Branchiootorenal Syndrome | Orotic Aciduria | Chronic Leukemia | Lichen Planus | Pierpont Syndrome | Cluster Headache | McLeod Syndrome | Esthesioneuroblastoma | Pontocerebellar Hypoplasia Type 7 | Alexander Disease | Wiedemann-Steiner Syndrome | Celiac Disease | Spinal And Bulbar Muscular Atrophy | Oguchi Disease-2 | Nephritis, Interstitial | Takotsubo Cardiomyopathy | Beta-Propeller Protein-associated Neurodegeneration | Tetraplegia | IMAGe Syndrome | Diverticulitis | Exocrine Pancreatic Insufficiency | Hemoglobinopathies | Hyperandrogenemia | Sarcoidosis | Duchenne Muscular Dystrophy | Exfoliative Dermatitis | Tracheal Disorders | Weill-Marchesani Syndrome | Phosphoglycerate Dehydrogenase Deficiency | Central Core Disease | Malaria, Cerebral | Kaposi Sarcoma | Alopecia | Familial Dysautonomia | Swine Influenza | Gastroenteritis, Eosinophilic | Infantile Spasm | Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis | Snyder-Robinson Syndrome | Muscle Wasting | Ichthyosis | Adenylosuccinate Lyase Deficiency | Schnyder Crystalline Corneal Dystrophy | Hereditary Neuropathy With Liability To Pressure Palsies | Apparent Mineralocorticoid Excess Syndrome | Diastrophic Dysplasia | Neurodegeneration With Brain Iron Accumulation | Hamartoma | Axenfeld-Rieger Syndrome | Amyotrophic Lateral Sclerosis, Juvenile | Poirier-Bienvenu Neurodevelopmental Syndrome | Nasodigitoacoustic Syndrome | Multiple Sclerosis | Parkinson's Disease | Monilethrix | Renal Failure | Encephalopathy | Congenital Poikiloderma | Hidradenitis Suppurativa | Epidermolysis Bullosa Dystrophica | Encephalitis, Tick-borne | Creatine Deficiency Syndrome Due To AGAT Deficiency | Hypopigmentation | Congenital Hereditary Endothelial Dystrophy Type II | Kabuki Syndrome 2 | Osteosarcoma | Chordoma | Neurofibrosarcoma | Maple Syrup Urine Disease | Porphyria, Variegate | Cockayne Syndrome | Facioscapulohumeral Muscular Dystrophy Type 2 | Sarcoidosis, Pulmonary | Agnathia-Otocephaly Complex | Paraganglioma, Carotid Body | Pterygium | Posterior Polar Cataract | Myositis, Focal | Goldenhar Syndrome | Thyroid Hormone Resistance | Sleep Apnea, Central | Sarcoma | Schizencephaly | Primary Aldosteronism | Meconium Ileus | Antenatal Bartter Syndrome Type 1 | Phenylketonuria II | Discoid Lupus Erythematosus | Ameloblastic Carcinoma | Glomerulonephritis, Membranoproliferative | Hartnup Disease | Leukemia-lymphoma, Adult T-cell | Peeling Skin Syndrome Type B | Obsessive-compulsive Disorder | Tendinopathy | Myocarditis | Esophageal Adenocarcinoma | Stuve-Wiedemann Syndrome | Oculocutaneous Albinism Type 2 | Heavy Chain Disease | Erythema Nodosum | Glioblastoma | Congenital Generalized Lipodystrophy | T-cell Chronic Lymphocytic Leukemia | Mitochondrial Encephalomyopathy | Lennox-Gastaut Syndrome | Cryptococcal Meningitis | Chromosome 16p11.2 Deletion Syndrome | Autoimmune Autonomic Ganglionopathy | Methemoglobinemia | Ectrodactyly | Dysplastic Nevus | Preaxial Polydactyly | Meleda Disease | Ovarian Hyperstimulation Syndrome | T-cell Leukemia | Membranous Nephropathy | Congenital Heart Block | Sengers Syndrome