Epidermolysis Bullosa Simplex, Dowling-Meara Type
Epidermolysis Bullosa Simplex, Dowling-Meara Type
About the Disease
Epidermolysis Bullosa Simplex 1a, Generalized Severe, also known as epidermolysis bullosa simplex, dowling-meara type, is related to epidermolysis bullosa simplex 5a, ogna type and epidermolysis bullosa simplex 1b, generalized intermediate, and has symptoms including nail shedding An important gene associated with Epidermolysis Bullosa Simplex 1a, Generalized Severe is KRT14 (Keratin 14), and among its related pathways/superpathways are Nervous system development and Cell junction organization. Affiliated tissues include skin and tongue, and related phenotypes are palmoplantar keratoderma and erythema
Common Targets
KRT5

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Other Diseases
Keratitis | Hemorrhage | Hyperphenylalaninemia | Hyperbilirubinemia, Neonatal | Infantile Spasm | Hemolytic Anemia | CREST Syndrome | Isobutyryl-CoA Dehydrogenase Deficiency | Astrocytoma | Epidermolytic Palmoplantar Keratoderma | Chondrodysplasia Punctata 1, X-linked Recessive | Atopy | Ichthyosis | DEND Syndrome | Aphasia | Cerebral Amyloid Angiopathy | Reflex Epilepsy | Autism | Early Infantile Epileptic Encephalopathy 1 | Amyloidosis | Mastitis | Optic Atrophy 2 | Stickler Syndrome | Chronic Lymphocytic Leukemia | Ventricular Septal Defect | Veno-occlusive Disease | Hemolytic Uremic Syndrome | Vulvovaginitis | Keratoconjunctivitis | Agranulocytosis | Osteogenesis Imperfecta Type II | WAGR Syndrome | Renal Medullary Carcinoma | Limb Girdle Muscular Dystrophy | Cystitis | Crouzon Syndrome With Acanthosis Nigricans | Thanatophoric Dysplasia Type 1 | Chronic Mucocutaneous Candidiasis | Reye Syndrome | Vascular Calcification | Myasthenia Gravis | Toxic Epidermal Necrolysis | Giant Axonal Neuropathy | Cerebellar Ataxia, Cayman Type | Antiphospholipid Syndrome | Proctitis | Mumps | Reticular Dysgenesis | Metabolic Syndrome | Biotinidase Deficiency | Atopic Dermatitis | Pachyonychia Congenita | Chorioretinitis | Dowling-Degos Disease | Fibromyalgia | Spasticity | Cramp Fasciculation Syndrome | Ependymoma | Lattice Corneal Dystrophy | Thrombophilia | Methemoglobinemia | Muscle Wasting | Nephronophthisis | Chordoid Glioma | Pseudomyxoma Peritonei | Hereditary Hemorrhagic Telangiectasia Type 2 | Eccrine Porocarcinoma | Porphyria, Variegate | Headache | Wolcott-Rallison Syndrome | Liver Diseases | Microphthalmia | Amebiasis | Wiedemann-Steiner Syndrome | Stargardt Disease | Charcot-Marie-Tooth Disease Type 4E | Multiple Sulfatase Deficiency | Obesity, Morbid | Hyperoxaluria | Anal Fissure | Chediak-Higashi Syndrome | Anosmia, Congenital | Chronic Thromboembolic Pulmonary Hypertension | Lateral Meningocele Syndrome | Treacher Collins Syndrome | Lactose Intolerance | Primary Cutaneous Amyloidosis | Spinocerebellar Ataxia Type 1 | PHARC Syndrome | 5-oxoprolinase Deficiency | Occipital Neuralgia | Hairy Cell Leukemia | Retinal Coloboma | Early Infantile Epileptic Encephalopathy 28 | Pneumonia, Viral | Brooke-Spiegler Syndrome | Pseudohypoparathyroidism Type 2 | Sulfite Oxidase Deficiency | Tardive Dyskinesia | Pericarditis | Histoplasmosis | Osteochondroma | Silicosis | Spermatocele | Ophthalmoplegia | Nemaline Myopathy 8 | Endocarditis | Ganglioglioma | Lichen Sclerosus | Tangier Disease | Irritable Bowel Syndrome | Joubert Syndrome | Sorsby Fundus Dystrophy | Nephrotic Syndrome | Pancytopenia | Achondrogenesis | Cervical Dystonia | Diarrhea | Nephrotic Syndrome Type 1 | Dubin-Johnson Syndrome | Primary Hyperoxaluria | Benign Familial Infantile Seizures | Exotropia | Endometritis | Skin Carcinoma | Withdrawal Syndrome | Cystitis, Interstitial | AIDS Dementia Complex | Lymphoma Lymphoblastic | Charcot-Marie-Tooth Disease Type 2T | Juvenile Polyposis | Binge Eating Disorder | Smith-Magenis Syndrome | N-acetylglutamate Synthase Deficiency | Erythropoietic Protoporphyria | Canavan Disease | Meningioma | Keratocystic Odontogenic Tumor | Primrose Syndrome | Spinocerebellar Ataxia Type 10 | Optic Nerve Hypoplasia, Bilateral | Gaucher Disease | Pendred Syndrome | Infantile Neuroaxonal Dystrophy | Tremor | Adenosine Deaminase 2 Deficiency | Cardiomyopathy, Dilated, 1L | Craniometaphyseal Dysplasia | Schwartz-Jampel-Aberfeld Syndrome | Myelofibrosis | Corticobasal Syndrome | Early Infantile Epileptic Encephalopathy 13 | Noonan Syndrome | Esophageal Motility Disorders | Globozoospermia | Hydronephrosis | Pulmonary Alveolar Microlithiasis | Glycogen Storage Disease Type 1a | Nephropathy | Ocular Surface Squamous Neoplasia | Osmotic Demyelination Syndrome | T-cell Prolymphocytic Leukemia | Retinal Dystrophy, Early-onset Severe | Papilledema | Lissencephaly 2 | Evans Syndrome | Rett Syndrome | Epicondylitis | Lennox-Gastaut Syndrome | Periventricular Leukomalacia | Autosomal Recessive Bestrophinopathy | Dysequilibrium Syndrome | Whipple's Disease | Chronic Myelomonocytic Leukemia | Thyroiditis, Autoimmune | Hypobetalipoproteinemias | Primary Lateral Sclerosis | Iron Metabolism Disorders | Kohlschutter-Tonz Syndrome | Myositis, Focal | Sarcoidosis, Pulmonary | Familial Retinal Arterial Macroaneurysm | Gardner Syndrome | Epidermolysis Bullosa Simplex, Localized | Giant Cell Glioblastoma | Fetal And Neonatal Alloimmune Thrombocytopenia | Anencephaly | Dysthymia | Mitochondrial Disease | Kleine-Levin Syndrome | Sensory Neuropathy | Thin Basement Membrane Disease | Tyrosine Hydroxylase Deficiency | Paraplegia | Becker Muscular Dystrophy | Polycystic Kidney, Autosomal Dominant | Spondyloarthritis | Gliosarcoma | Congenital Disorders Of Glycosylation Type II | Keratoconus | Mabry Syndrome | Epidermolytic Ichthyosis, Annular | Multicystic Renal Dysplasia | Thyroid Hormone Resistance | Inflammatory Myopathy | Corneal Dystrophy And Perceptive Deafness | Diabetes Type 1 | Leukodystrophies | Pernicious Anemia | Combined Deficiency Of Factor V And Factor VIII | Synovitis | Pulmonary Sclerosing Hemangioma | Auriculocondylar Syndrome | Apraxia | Autonomic Neuropathy | Hepatitis C, Chronic | Myeloid Leukemia | Exocrine Pancreatic Insufficiency | Lymphoma, Primary Cutaneous Anaplastic Large Cell | Carbohydrate Metabolism Disorders | Vasculitis | Microcephaly | Cantu Syndrome | Traboulsi Syndrome | Neovascular Glaucoma | Tendinitis | Sweet Syndrome | Imerslund-Grasbeck Syndrome | Benign Familial Neonatal Convulsions | Myoclonic Atonic Epilepsy | Hypertension, Portal | Temporal Lobe Epilepsy | Basan Syndrome | Huntington's Disease | Glioblastoma | Multisystemic Smooth Muscle Dysfunction Syndrome | Papillorenal Syndrome | Urea Cycle Disorder | Spinocerebellar Ataxia Type 31 | Bruck Syndrome | Glaucomatocyclitic Crisis | Goiter, Nodular | Duane Retraction Syndrome | Hepatorenal Syndrome | Atrioventricular 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Disease | Astigmatism | Waardenburg Syndrome Type 4 | Oral Lichen Planus | Short-chain Acyl-CoA Dehydrogenase Deficiency | Demyelinating Diseases | Pyruvate Dehydrogenase Deficiency | Thymoma, Malignant | Stiff-man Syndrome | Growth Hormone Excess | Exfoliative Dermatitis | Muscular Dystrophy | Spinocerebellar Ataxia Type 7 | Pitt-Hopkins Syndrome | POEMS Syndrome | Blepharoconjunctivitis | Aplasia Cutis Congenita | Kaposiform Hemangioendothelioma | Maple Syrup Urine Disease | COACH Syndrome | Diffuse Intrinsic Pontine Glioma | Prurigo Nodularis | Spondylolisthesis | Hepatitis B, Chronic | Chitayat Syndrome | Disseminated Superficial Actinic Porokeratosis | Sialidosis | Cystinosis | Hydrolethalus Syndrome | Myotonic Disorders | Hypothalamic Obesity | Progressive Familial Intrahepatic Cholestasis | Carcinoma, Transitional Cell | Epilepsy | Erythromelalgia | Cysticercosis | Lentigo | Retinitis Pigmentosa | Progressive Familial Intrahepatic Cholestasis Type 2 | Myelomeningocele | Ovarian Sex Cord-stromal Tumor | Megaloblastic Anemia | Varicocele | Cri-du-chat Syndrome | Hypercalciuria | Pure Autonomic Failure | Renpenning Syndrome | Tyrosinemia | Myoclonic Epilepsy With Ragged Red Fibers | Proximal Symphalangism | Glanzmann Thrombasthenia | Chronic Inflammatory Demyelinating Polyneuropathy | Retinoblastoma | Mevalonate Kinase Deficiency | Spinocerebellar Ataxia Type 21 | Osteogenesis Imperfecta Type VI | Hypopituitarism | Acute Lymphocytic Leukemia | Spitz Nevus | Congenital Muscular Dystrophy | Learning Disability | Pelizaeus-Merzbacher Disease | Neurofibrosarcoma | Camptocormia | Neurodegeneration Due To Cerebral Folate Transport Deficiency | Pigment Dispersion Syndrome | Multiple Mitochondrial Dysfunctions Syndrome Type 1 | Autosomal Recessive Spastic Paraplegia Type 54 | Osteitis | Autosomal Recessive Congenital Ichthyosis | Metanephric Adenoma | Majeed Syndrome | Fanconi Syndrome | Rhabdoid Tumor | Constipation | Agammaglobulinemia | Hoyeraal-Hreidarsson Syndrome | Infertility, Male | Molybdenum Cofactor Deficiency | Porphyria Cutanea Tarda | Hereditary Pyropoikilocytosis | Macrophage Activation Syndrome | Porencephaly | Mitochondrial Cytopathy | Gallstones | Restless Legs Syndrome | Myofibrillar Myopathy | Optic Neuropathy, Anterior Ischemic | Papulopustular Rosacea | Speech Disorders | Heart Failure | Bronchitis | Hepatopulmonary Syndrome | Acrodermatitis | Papillon-Lefevre Syndrome | Insulin Resistance | Pseudohypoparathyroidism Type 1A | Presbycusis | Smith-Kingsmore Syndrome | Sengers Syndrome | Batten Disease | Autoimmune Interstitial Lung, Joint, And Kidney Disease | Retinitis Pigmentosa 3 | Episodic Ataxia Type 1 | Cancer, Kidney | Tatton-Brown-Rahman Syndrome | Hypertension, Essential | Polycythemia | Bainbridge-Ropers Syndrome | Genee-Wiedemann Syndrome | Colitis, Collagenous | Multifocal Motor Neuropathy | Nestor-Guillermo Progeria Syndrome | Stuttering | Histiocytosis