Chromosome 17q21.31 Deletion Syndrome

About the Disease
Koolen-De Vries Syndrome, also known as kdvs, is related to koolen-de vries syndrome due to a point mutation and hypotonia, and has symptoms including dry skin An important gene associated with Koolen-De Vries Syndrome is KANSL1 (KAT8 Regulatory NSL Complex Subunit 1), and among its related pathways/superpathways is Chromatin organization. Affiliated tissues include heart, testes and bone, and related phenotypes are intellectual disability and ptosis

Common Targets
KANSL1 | YY1 | HNF1B

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Other Diseases

Seasonal Mood Disorder | Hereditary Spastic Paraplegia | Keratosis, Seborrheic | Early Infantile Epileptic Encephalopathy 1 | Fragile X Syndrome | Otopalatodigital Syndrome Type 2 | Hypotrichosis, Congenital, With Juvenile Macular Dystrophy | Persistent Hyperplastic Primary Vitreous | Hepatitis, Alcoholic | Sengers Syndrome | Myasthenia | Renal Hypomagnesemia 3 | Kabuki Syndrome 2 | Conjunctivitis, Allergic | Microcephaly, Seizures, And Developmental Delay | Triphalangeal Thumb-polysyndactyly Syndrome | Spinal Cord Diseases | Greig Cephalopolysyndactyly Syndrome | Chiari Malformation Type I | Osteogenesis Imperfecta Type II | DiGeorge Syndrome | Lyme Disease | Myositis, Focal | Neuroendocrine Cancer | Dyskeratosis Congenita | Sarcoidosis | Huntington's Disease | Xeroderma Pigmentosum Variant Type | Sickle Cell Anemia | Cutis Laxa | McLeod Syndrome | Cranial Nerve Disease | Inborn Errors Of Metabolism | Spondyloepiphyseal Dysplasia Tarda, X-linked | Spinocerebellar Ataxia Type 38 | Avellino Corneal Dystrophy | Blue Rubber Bleb Nevus Syndrome | Charcot-Marie-Tooth Disease Type 4D | Acute Leukemia | Hypogonadism | Hennekam Lymphangiectasia-lymphedema Syndrome | Melnick-Needles Syndrome | Cholestasis | Corneal Edema | Spondylosis | Neurofibrosarcoma | Purpura | Waardenburg Syndrome Type 1 | Dysequilibrium Syndrome | Bipolar Disorder | Aplastic Anemia | Vertigo | Pseudoexfoliation Syndrome | Pompe Disease | 3-methylglutaconic Aciduria Type I | Osteoarthritis | Benign Recurrent Intrahepatic Cholestasis 1 | Charcot-Marie-Tooth Disease Type 2E | Cornelia De Lange Syndrome | Ichthyosis, X-linked | Postpartum Depression | Sleep Apnea, Obstructive | Pilomatrix Carcinoma | Jaundice, Obstructive | Primary Progressive Nonfluent Aphasia | Myhre Syndrome | Cherubism | Epilepsy Of Infancy With Migrating Focal Seizures | Pleurisy | Peutz-Jeghers Syndrome | Werner's Syndrome | Giant Cell Glioblastoma | Transcobalamin Deficiency | Extramammary Paget's Disease | Stroke | Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3 | Von Hippel-Lindau Disease | Hemangioendothelioma | Behcet's Disease | Liddle Syndrome | Duane Retraction Syndrome | Fetal Alcohol Syndrome | Mountain Sickness | LMNA-related Congenital Muscular Dystrophy | Erythropoietic Protoporphyria | Neurofibroma, Plexiform | Sclerocornea | T-cell Leukemia | Corneal Dystrophy | Encephalitis, Tick-borne | Thyroid Dyshormonogenesis | Ornithine Transcarbamylase Deficiency | Yellow Fever | Trichuriasis | Schistosomiasis Mansoni | Camptocormia | Hereditary Hemorrhagic Telangiectasia Type 2 | Leukocyte Adhesion Deficiency | Narcolepsy | Pulmonary Sclerosing Hemangioma | Spitz Nevus | Marinesco-Sjogren Syndrome | Gnathodiaphyseal Dysplasia | Blue Nevus | 3C Syndrome | McKusick Type Metaphyseal Chondrodysplasia | Ichthyosis Bullosa Of Siemens | Platyspondylic Lethal Skeletal Dysplasia, Torrance Type | Early Infantile Epileptic Encephalopathy 28 | Proteus Syndrome | Melanoma | Peripheral 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| Hypomyelination With Atrophy Of Basal Ganglia And Cerebellum | Beare-Stevenson Syndrome | Kernicterus | Hypoglycemia | Acanthosis Nigricans | Gitelman Syndrome | Periventricular Nodular Heterotopia | Primary Sclerosing Cholangitis | Ectodermal Dysplasia | Coloboma | Familial Cerebral Amyloid Angiopathy | Communication Disorders | Early Infantile Epileptic Encephalopathy 13 | Alpers Syndrome | Obesity, Morbid | Thyroid Hormone Resistance | Protein S Deficiency | Hepatitis D | Gastritis, Atrophic | Lattice Corneal Dystrophy Type 1 | Pituitary Dwarfism | Cholangitis | Acral Lentiginous Melanoma | Pneumococcal Meningitis | Oligospermia | Leri Pleonosteosis | Dermatitis Herpetiformis | Craniosynostosis | Jacobsen Syndrome | Macular Corneal Dystrophy | Atopy | Postpoliomyelitis Syndrome | Familial Male-limited Precocious Puberty | Spinocerebellar Ataxia Type 8 | Congenital Ichthyosiform Erythroderma | IMAGe Syndrome | Motion Sickness | Lennox-Gastaut Syndrome | Anuria | Anovulation | Gaucher Disease | Cardiomyopathy, Peripartum | Asplenia | Ghosal Syndrome | Adenoma, Pituitary | Seizures-scoliosis-macrocephaly Syndrome | Polyomavirus Nephropathy | Peyronie's Disease | Posterior Polar Cataract | Mast Cell Leukemia | Angioedema, Acquired | ADNP Syndrome | Chromosome 5q Deletion Syndrome | Vestibular Disease | Urea Cycle Disorder | Presbyopia | Paraganglioma | Tyrosinemia Type 1 | Spinocerebellar Ataxia Type 17 | Leigh Syndrome | Nance-Horan Syndrome | Gastroenteritis, Eosinophilic | Infantile Neuroaxonal Dystrophy | Autism Spectrum Disorders | Acute Lymphocytic Leukemia | Motor Neuron Diseases | Galactosialidosis | 3-hydroxy-3-methylglutaric Aciduria | Guillain-Barre Syndrome | Lipodystrophy | Aldosteronism | Hypertension, Renovascular | Cholangiocarcinoma | Familial Glucocorticoid Deficiency | Cenani-Lenz Syndactyly Syndrome | Spinocerebellar Ataxia Type 3 | Currarino Syndrome | Diabetic Nephropathy | Renal Oncocytoma | Lung Diseases | Seizures | Optic Neuritis | 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Syndrome | Monilethrix | Hypotrichosis | Lateral Meningocele Syndrome | Emery-Dreifuss Muscular Dystrophy | Aicardi-Goutieres Syndrome | Diabetes Type 1 | Heavy Chain Disease | Hereditary Elliptocytosis | Aarskog-Scott Syndrome | Glutaric Aciduria Type 2 | Chondroma | Enterocolitis, Necrotizing | Erythema Multiforme | Tularemia | Hypoalbuminemia | Glaucomatocyclitic Crisis | Hernia, Inguinal | Zellweger Syndrome | Hypertension, Pulmonary | Keratoacanthoma | Endometrial Hyperplasia | Renal Failure | Crisponi Syndrome | Brugada Syndrome 1 | Dengue Hemorrhagic Fever | Carcinoma, Small Cell | Recurrent Respiratory Papillomatosis | Dental Caries | Ependymoma | Pierre Robin Syndrome | MIRAGE Syndrome | Carney-Stratakis Syndrome | Diabetes Gestational | Gastrointestinal Disorders | Retinal Dystrophy, Early-onset Severe | Epidermolysis Bullosa Dystrophica | Li-Fraumeni Syndrome | Camurati-Engelmann Disease | Progressive Familial Intrahepatic Cholestasis Type 2 | Mitochondrial DNA Depletion Syndrome, Hepatocerebral Form | Familial Thoracic Aortic Aneurysm | Hypereosinophilic Syndrome | Congenital Hereditary Endothelial Dystrophy Type I | Rhizomelic Chondrodysplasia Punctata | Bronchitis, Chronic | Erythema Nodosum | Diffuse Idiopathic Pulmonary Neuroendocrine Cell Hyperplasia | Primary Familial Brain Calcification | Spinocerebellar Ataxia Type 13 | Vascular Cognitive Impairment | Malaria | Cleidocranial Dysplasia | Coronary Restenosis | Hereditary Mixed Polyposis Syndrome | Ehlers-Danlos Syndrome | Lissencephaly 2 | FG Syndrome | Okihiro Syndrome | Adenoma, Villous | Diastrophic Dysplasia | Proopiomelanocortin Deficiency | Crigler-Najjar Syndrome | Spondylometaphyseal Dysplasia | Neutropenia | Inflammatory Myopathy | Speech Disorders | Greenberg Dysplasia | Charcot-Marie-Tooth Disease Type 4 | Chromosome 16p11.2 Deletion Syndrome | Spinocerebellar Ataxia Type 40 | Pelizaeus-Merzbacher Disease | Prostatitis | Hepatitis B, Chronic | Basan Syndrome | Hereditary Inclusion 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