Inborn Errors Of Metabolism
Inborn Errors Of Metabolism
About the Disease
Inherited Metabolic Disorder, also known as inborn errors of metabolism, is related to phenylketonuria and carbohydrate metabolic disorder. An important gene associated with Inherited Metabolic Disorder is TKFC (Triokinase And FMN Cyclase), and among its related pathways/superpathways are Cell differentiation - expanded index and Interactions between immune cells and microRNAs in tumor microenvironment. The drugs Bezafibrate and Sodium citrate have been mentioned in the context of this disorder. Affiliated tissues include bone marrow, liver and t cells.
Common Targets
GALNS | CAD | SLC6A8 | GLYCTK | ABCD4 | SPR | HSD11B1 | IVD | ACSF3 | UGCG | TSFM | HSD17B10 | ACADVL | HPD | PKLR | ALDH3A1 | ARSB | MMADHC | HADHA | MMACHC | NR1H4 | IKBKG | Chaperone (nonspecified subtype) | FBXL4 | APOC3 | CYP2C8 | NDUFS1 | Alcohol Dehydrogenase (nonspecified subtype) | GFM1 | ADA | AKR1D1 | TTC19 | NAXE | SLC13A5 | GLS | Adenosine deaminase (nonspecified subtype) | SLC16A1 | GAMT | LMBRD1 | ASL | HIBCH | SUCLA2 | PRF1 | FUCA1 | Histone deacetylase (nonspecified subtype) | MTHFD1 | SLC10A1 | CYP7B1 | GAA | HEXA | ACAT1 | Pyruvate dehydrogenase kinase (nonspecified subtype) | TRNA | HMGCS2 | H6PD | PNP | UGT1A1 | FUCA2 | HEXB | NAGA | CYP19A1 | P2X Receptor (nonspecified subtype) | ACY1 | SLC5A1 | OGA | TH | FBP1 | GPI | Cytochrome P450 Enzymes (nonspecified subtype) | APOB | DHFR | RMND1 | GLB1 | SLC22A5 | TALDO1 | G6PD | CYP27A1 | PCK1 | SURF1 | ND5 | MTHFR | FMO3 | ABCC3 | UROC1 | TNFRSF9 | ETHE1 | BCAT2 | BTD | G5243 | MC1R | MRTFA | NDUFA6 | PGK1 | HSD3B2 | GPBAR1 | ETFDH | GLA | Na+/Ca2+ Exchanger (NCX) (nonspecified subtype) | NPC2 | SLC25A20 | RFT1 | FTCD | G9429 | DIPK2B | ADK | IDUA | UPB1 | GBA1 | ZNF143 | ECHS1

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Other Diseases
Ichthyosis | Encephalopathy, Ethylmalonic | Ataxia-ocular Apraxia 2 | Basal Ganglia Disease, Biotin-responsive | Behavioral Variant Of Frontotemporal Dementia | Infectious Diarrhea | Bronchiolitis | Strabismus | Dysgerminoma | Hepatic Adenomatosis | Pituitary Stalk Interruption Syndrome | Botulism | Atrioventricular Septal Defect | Gliosarcoma | Hypertension, Renal | Thanatophoric Dysplasia | Sulfite Oxidase Deficiency | Congestive Heart Failure | Autism Spectrum Disorders | FG Syndrome | Thyroid Dysgenesis | Ehlers-Danlos Syndrome With Progressive Kyphoscoliosis, Myopathy, And Hearing Loss | Early Infantile Epileptic Encephalopathy 13 | Renal Hypouricemia | Conjunctivitis, Allergic | LEOPARD Syndrome | Ebstein Anomaly | Noonan Syndrome | Liddle Syndrome | MIRAGE Syndrome | Coma | Pseudo-pseudohypoparathyroidism | Joubert Syndrome | Fetal Alcohol Syndrome | Familial Hyperaldosteronism | Hernia, Inguinal | Pitt-Hopkins Syndrome | Schistosomiasis | Epiphyseal Chondrodysplasia, Miura Type | Schwannomatosis | CDKL5 Deficiency Disorder | Familial Isolated Hyperparathyroidism | Neuropathy | Lymphangioleiomyomatosis | Acrocallosal Syndrome | Rhizomelic Chondrodysplasia Punctata | LRBA Deficiency | Paroxysmal Nocturnal Hemoglobinuria | Bethlem Myopathy | Retinoschisis | Kleine-Levin Syndrome | Sarcosinemia | Lymphoproliferative Disorders | Blepharitis | Juvenile Polyposis | Cirrhosis | Hyperandrogenemia | Atopy | Cryptococcal Meningitis | Pulmonary Veno-occlusive Disease | Methemoglobinemia Type IV | Thrombasthenia | Systemic Mastocytosis | Diabetes | Blue Rubber Bleb Nevus Syndrome | Trismus-pseudocamptodactyly Syndrome | Acute Coronary Syndrome | Hypokalemia | Chronic Neutrophilic Leukemia | IgA Deficiency | Neurodevelopmental Disorders | Vestibular Disease | Cushing Syndrome | Crisponi Syndrome | Synpolydactyly | Hypertelorism | Mountain Sickness | Peutz-Jeghers Syndrome | Neuromyelitis Optica | Acute Tubular Necrosis | Neovascular Glaucoma | Nasodigitoacoustic Syndrome | Sarcoma, Ewing | Adenosine Deaminase 2 Deficiency | Plasmacytoma | Maternally Inherited Diabetes And Deafness | Myoclonic Atonic Epilepsy | Primary Familial Brain Calcification | Adenosine Deaminase Deficiency | Neurogenic Bladder | Acute Kidney Injury | Congenital Nystagmus | Chronic Leukemia | Inflammatory Linear Verrucous Epidermal Nevus | Adrenomyeloneuropathy | Seasonal Mood Disorder | Open-angle Glaucoma | Hyperparathyroidism-jaw Tumor Syndrome | Galactosemia | Primary Erythromelalgia | Jawad Syndrome | Facioscapulohumeral Muscular Dystrophy Type 2 | Onchocerciasis | Pseudohypoparathyroidism Type 1B | Chromosome 17q21.31 Deletion Syndrome | Megalencephaly | Alpha-1 Antitrypsin Deficiency | Spastic Paraplegia Type 7 | Lupus Erythematosus | Omenn Syndrome | Dominant Optic Atrophy | Brenner Tumor | Keratoacanthoma | Ileitis | Corneal Dystrophy | Raine Syndrome | Rheumatic Heart Disease | Congenital Muscular Dystrophy | Glycogen Storage Disease Type 1a | Sensorineural Hearing Loss | Neurofibromatosis-Noonan Syndrome | Zygomycosis | Neutropenia | Spondyloepiphyseal Dysplasia Tarda, X-linked | Pemphigus Vulgaris | Vitamin K Deficiency | 6-pyruvoyl-tetrahydropterin Synthase Deficiency | Congenital Absence Of Vas Deferens | Central Pain Syndrome | Keratosis, Actinic | Antley-Bixler Syndrome | Multiple Sclerosis, Primary Progressive | Congenital Ichthyosiform Erythroderma | Familial Pheochromocytoma-paraganglioma | Corneal Edema | Optic Neuropathy | Neurofibromatosis Type 2 | Fibronectin Glomerulopathy | Congenital Lipoid Adrenal Hyperplasia | Metaphyseal Chondrodysplasia, Schmid Type | L-2-Hydroxyglutaric Aciduria | Seizures-scoliosis-macrocephaly Syndrome | Blastomycosis | Speech Disorders | Neurotoxicity | Von Hippel-Lindau Disease | Adrenoleukodystrophy, X-linked | Cerebrotendinous Xanthomatosis | Porokeratosis | Glycogen Storage Disease Type 1b | Pyoderma Gangrenosum | Pierre Robin Syndrome | Glaucoma | Lathosterolosis | Glanzmann Thrombasthenia | Cranioectodermal Dysplasia | Long QT Syndrome Type 3 | Precocious Puberty | Dysferlinopathy | Hypercalciuria | Non-proliferative Diabetic Retinopathy | Wolcott-Rallison Syndrome | Dermatitis | Plasma Cell Dyscrasia | Isovaleric Acidemia | Parapsoriasis | Arthritis, Reactive | Renal Tubular Acidosis | Pseudohypoparathyroidism Type 1A | Odonto-onycho-dermal Dysplasia | Carey-Fineman-Ziter Syndrome | Metanephric Adenoma | Tendinitis | Osteoporosis-pseudoglioma Syndrome | Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies | Pilomatrix Carcinoma | Waardenburg Syndrome Type 2A | Noonan Syndrome-like Disorder With Loose Anagen Hair | Rhinitis | Herpes Simplex Dermatitis | Spinocerebellar Ataxia Type 28 | Spondylo-ocular Syndrome | Nephropathy | Autosomal Recessive Spastic Paraplegia Type 35 | Avellino Corneal Dystrophy | Early Infantile Epileptic Encephalopathy 4 | Saul-Wilson Syndrome | Hypokalemic Periodic Paralysis | Vascular Calcification | Methylmalonic Acidemia | Gerstmann-Straussler-Scheinker Syndrome | Fuchs Dystrophy | Mucolipidosis Type II | Hypodontia | Anencephaly | Cryoglobulinemia | Wieacker-Wolff Syndrome | Vogt-Koyanagi-Harada Syndrome | Hypertensive Nephropathy | Craniolenticulosutural Dysplasia | Neuroendocrine Cancer | Common Cold | Primary Hyperoxaluria | Nephrocalcinosis | Tyrosinemia Type 2 | Craniometaphyseal Dysplasia | Nestor-Guillermo Progeria Syndrome | Galactosialidosis | Rift Valley Fever | Porencephaly | Arthropathy | Vici Syndrome | Hairy Cell Leukemia | McLeod Syndrome | Autism | Waardenburg Syndrome Type 4 | Hereditary Spastic Paraplegia | Infantile Liver Failure Syndrome 1 | Wolman Disease | Greig Cephalopolysyndactyly Syndrome | Cancer, Lung | Arthritis, Gouty | Osteogenesis Imperfecta Type II | Immunoproliferative Disorders | Nicolaides-Baraitser Syndrome | Kidney Stones | Endocarditis | Thanatophoric Dysplasia Type 1 | Bulimia Nervosa | Ghosal Syndrome | Epidermodysplasia Verruciformis | Macular Corneal Dystrophy Type 1 | Cancer, Colon | Christianson Syndrome | Anterior Segment Dysgenesis | Microcephalic Osteodysplastic Primordial Dwarfism, Type II | Metatropic Dysplasia | Basal Cell Nevus Syndrome | Schizophrenia, Paranoid | Multiple Hamartoma Syndrome | Neurodermatitis | Central Retinal Artery Occlusion | Congenital Myopathy | Stuttering | Bladder Exstrophy | Trichomegaly | Mastitis | Progressive Familial Intrahepatic Cholestasis Type 3 | Familial Male-limited Precocious Puberty | Dysplastic Nevus | Conduct Disorder | Poretti-Boltshauser Syndrome | Non-epidermolytic Palmoplantar Keratoderma | Gastritis, Atrophic | Guttate Psoriasis | Polycythemia Vera | Synovitis | Spinocerebellar Ataxia Type 23 | Tyrosine Hydroxylase Deficiency | Hypoplastic Left Heart Syndrome | Hypobetalipoproteinemias | Hereditary Coproporphyria | Atherosclerosis | Thyroid Hormone Resistance | 17-beta-hydroxysteroid Dehydrogenase X Deficiency | Multisystemic Smooth Muscle Dysfunction Syndrome | Ectodermal Dysplasia | Proteasome-associated Autoinflammatory Syndrome 2 | Cancer, Skin | Carcinoma, Signet Ring Cell | Lafora Disease | Exotropia | Acute Chest Syndrome | Vasculitis | Waardenburg Syndrome Type 1 | Primrose Syndrome | Varices | Osteochondrosis | Heterotopic Ossification | Dermatomyositis | Short-chain Acyl-CoA Dehydrogenase Deficiency | Hereditary Spherocytosis | Esophageal Adenocarcinoma | 3-methylcrotonyl-CoA Carboxylase Deficiency | Ameloblastoma | Leukemia | Chronic Enteropathy Associated With SLCO2A1 Gene | Corneal Dystrophy And Perceptive Deafness | Meningococcal Meningitis | Anal Fissure | Spinocerebellar Ataxia Type 40 | Thin Basement Membrane Disease | Oculodentodigital Dysplasia | Eosinophilic Asthma | Neuromuscular Disorders | Idiopathic Pulmonary Fibrosis | Eccrine Porocarcinoma | Cerebrovascular Disorders | Prurigo Nodularis | Chiari Malformation Type I | Vitiligo | Anxiety Disorders | Microcephalic Osteodysplastic Primordial Dwarfism, Type I | Autoimmune Hemolytic Anemia | Triple A Syndrome | Fetal And Neonatal Alloimmune Thrombocytopenia | Congenital Mirror Movements | Mitochondrial DNA Depletion Syndrome, Myopathic Form | Pendred Syndrome | Bronchitis, Chronic | Congenital Sodium Diarrhea | Varicocele | Porphyria, Variegate | Macrophage Activation Syndrome | Hypercalcemia | Cutaneous T-cell Lymphoma | WAGR Syndrome | Macrodactyly | Guanidinoacetate Methyltransferase Deficiency | Malignant Peripheral Nerve Sheath Tumor | Osteoarthritis | Facioscapulohumeral Muscular Dystrophy Type 1 | Whipple's Disease | Apparent Mineralocorticoid Excess Syndrome | Neuronal Ceroid Lipofuscinosis | Glycogen Storage Disease | Arthritis, Psoriatic | Diarrhea | Genitopatellar Syndrome | Recurrent Respiratory Papillomatosis | Cholestasis, Intrahepatic | IgA Nephropathy | Cardiac Sarcoidosis | Hemophagocytic Lymphohistiocytosis | Premenstrual Syndrome | Hypopigmentation | Vitreoretinopathy, Proliferative | Beckwith-Wiedemann Syndrome | Oligoasthenoteratozoospermia | Retinal Detachment | Liver Failure, Acute Infantile | Peroxisomal Disorder | Blomstrand Osteochondrodysplasia | Hereditary Elliptocytosis | Osteogenesis Imperfecta Type IV | Spinocerebellar Ataxia Type 7 | POEMS Syndrome | PASLI Disease | Clouston Hidrotic Ectodermal Dysplasia | Benign Familial Neonatal Convulsions | Congenital Primary Aphakia | Multiple Congenital Anomalies-hypotonia-seizures Syndrome 2 | Keratosis | Biotinidase Deficiency | Hemolytic Uremic Syndrome, Atypical | Lipodystrophy | Motor Neuron Diseases | Autosomal Recessive Spastic Paraplegia Type 54 | Pontocerebellar Hypoplasia Type 7 | Emery-Dreifuss Muscular Dystrophy | Gerodermia Osteodysplastica | Hemochromatosis | Hidradenitis | Nail-Patella Syndrome | Chronic Lymphocytic Leukemia | Kabuki Syndrome | Dental Caries | Nance-Horan Syndrome | Succinic Semialdehyde Dehydrogenase Deficiency | Mitochondrial DNA Depletion Syndrome, Encephalomyopathic Form | Autoimmune Interstitial Lung, Joint, And Kidney Disease | Lattice Corneal Dystrophy | Nephrotic Syndrome Type 1 | Asthma | Epicondylitis | Pemphigoid | Familial Thoracic Aortic Aneurysm | Cardiospondylocarpofacial Syndrome | Retinitis Pigmentosa 3 | Wiskott-Aldrich Syndrome | Cancer, Kidney | Measles | Congenital Central Hypoventilation Syndrome | 3-hydroxyacyl-CoA Dehydrogenase Deficiency | Nemaline Myopathy 8 | Birt-Hogg-Dube Syndrome | Polycystic Liver | Hyperuricemic Nephropathy, Familial Juvenile | Mast Cell Leukemia | Cancer, Brain | Paternal Uniparental Disomy Of Chromosome 14 | Cholelithiasis | Hypothalamic Obesity | Blue Nevus | CREST Syndrome | Hypotrichosis | Hemolytic Uremic Syndrome | Ollier Disease | Thromboembolism | Aromatic L-amino Acid Decarboxylase Deficiency