Congenital Poikiloderma
Congenital Poikiloderma
About the Disease
Rothmund-Thomson Syndrome, Type 2, also known as rothmund-thomson syndrome, is related to poikiloderma with neutropenia and baller-gerold syndrome, and has symptoms including exanthema An important gene associated with Rothmund-Thomson Syndrome, Type 2 is RECQL4 (RecQ Like Helicase 4), and among its related pathways/superpathways are Gene expression (Transcription) and Disease. The drugs Orange and Calcium, Dietary have been mentioned in the context of this disorder. Affiliated tissues include skin, bone and eye, and related phenotypes are hypopigmentation of the skin and poikiloderma
Common Targets
LTV1 | FAM111B

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Leprosy | Blepharospasm | Chronic Mucocutaneous Candidiasis | Congenital Poikiloderma | Coronary Artery Disease | Familial Pheochromocytoma-paraganglioma | Systemic Mastocytosis | Ichthyosis Bullosa Of Siemens | Congenital Lipoid Adrenal Hyperplasia | Gingivitis | Pulmonary Alveolar Proteinosis | Hereditary Multiple Exostoses | Hepatopulmonary Syndrome | Benign Familial Neonatal Convulsions | Brachydactyly | Giant Axonal Neuropathy | Esophageal Motility Disorders | Hypocalcemia | Adenoid Cystic Carcinoma | Amyotrophic Lateral Sclerosis, Juvenile | Vascular Calcification | Osteomalacia | Adrenal Insufficiency | Paternal Uniparental Disomy Of Chromosome 14 | Schizophrenia | Ovarian Hyperstimulation Syndrome | B-cell Chronic Lymphocytic Leukemia | Prolactinoma | Cardiomyopathy, Peripartum | Hemochromatosis | Generalized Epilepsy With Febrile Seizures Plus | Keratitis-ichthyosis-deafness Syndrome | Reye Syndrome | Spinocerebellar Ataxia Type 21 | Inflammatory Linear Verrucous Epidermal 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Dementia, Vascular | Congenital Adrenal Hyperplasia 1 | Tibial Muscular Dystrophy | Ameloblastic Carcinoma | Cranial Nerve Disease | Coma | Astrocytoma, Anaplastic | Focal Segmental Glomerulosclerosis | Systemic Lupus Erythematosus | Spinocerebellar Ataxia Type 12 | Kabuki Syndrome 2 | Hamartoma | Renal Hypouricemia | Chorea-acanthocytosis | Eczema | Bare Lymphocyte Syndrome | Esophageal Carcinoma | Non-Langerhans Cell Histiocytosis | Cysticercosis | Cranioectodermal Dysplasia | CHARGE Syndrome | Budd-Chiari Syndrome | Primary Hyperoxaluria | Spondylo-megaepiphyseal-metaphyseal Dysplasia | Obsessive-compulsive Disorder | Basal Ganglia Disease | Pseudohypoaldosteronism | Lipoma | Photosensitivity | Amyloidosis | Hereditary Mixed Polyposis Syndrome | Tricho-hepato-enteric Syndrome | Neurocutaneous Melanocytosis | Sandhoff Disease | Pseudo-pseudohypoparathyroidism | Astigmatism | Gastritis | Portal Vein Thrombosis | Tyrosinemia | D-2-Hydroxyglutaric Aciduria | Anterior Segment Dysgenesis 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