Chromosome 8q21.11 Deletion Syndrome

About the Disease
Chromosome 8q21.11 Deletion Syndrome, also known as 8q21.11 microdeletion syndrome, is related to alacrima, achalasia, and mental retardation syndrome and hypotonia. An important gene associated with Chromosome 8q21.11 Deletion Syndrome is DEL8Q21.11 (Chromosome 8q21.11 Deletion Syndrome), and among its related pathways/superpathways is Mesodermal commitment pathway. Related phenotypes are intellectual disability and ptosis

Common Targets
ZFHX4

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Other Diseases

Splenomegaly | Benign Familial Neonatal Convulsions | Neuropathy | Progressive Familial Intrahepatic Cholestasis Type 3 | Nutrition Disorders | Epidermolytic Ichthyosis, Annular | Partington Syndrome | Borjeson-Forssman-Lehmann Syndrome | Congenital Mirror Movements | Trichuriasis | Haim-Munk Syndrome | Exostoses | Hypermethioninemia | Porencephaly | Episodic Ataxia Type 2 | Lattice Corneal Dystrophy Type 1 | Amish Infantile Epilepsy Syndrome | Non-epidermolytic Palmoplantar Keratoderma | Retinal Vasculitis | Arthritis, Psoriatic | Aphasia | Craniofrontonasal Syndrome | Acromesomelic Dysplasia | Carney Triad | Systemic Lupus Erythematosus | Cramp Fasciculation Syndrome | Glioma | Esotropia | Papilloma | Pulmonary Veno-occlusive Disease | Eczema | Nijmegen Breakage Syndrome | Transcobalamin Deficiency | Still Disease | Keratosis, Actinic | Alopecia | Bullous Pemphigoid | Trachoma | Familial Cerebral Amyloid Angiopathy | Vitamin D Deficiency | Progressive Osseous Heteroplasia | Kernicterus | Trichorhinophalangeal Syndrome | Gliosarcoma | Stroke, Ischemic | Granular Corneal Dystrophy Type 1 | Personality Disorders | Familial Exudative Vitreoretinopathy | Dermatomyositis | Oligoasthenoteratozoospermia | Blastomycosis | Enhanced S-cone Syndrome | Pyelonephritis | Intestinal Pseudo-obstruction | Centronuclear Myopathy | Deafness, Dystonia, And Cerebral Hypomyelination | Mucolipidosis Type II | Melanoma, Malignant | Postaxial Polydactyly | Urticaria | Thrombocytopenia | Porphyria, Variegate | Pseudohypoaldosteronism | Vestibular Disease | Corneal Dystrophies, Hereditary | Carcinoma, Merkel Cell | Seminoma | Crohn's Disease | Macrodactyly | Carcinoma, Squamous Cell | Cardiac Sarcoidosis | Conn Syndrome | Diabetic Encephalopathy | Beckwith-Wiedemann Syndrome | Noonan Syndrome | Nephrocalcinosis | Dent Disease | Omenn Syndrome | Dyslexia | Hyperphenylalaninemia | Osteosarcoma | Multiple Congenital Anomalies-hypotonia-seizures Syndrome 2 | Atrial Septal Defect | Lymphoma, AIDS-related | Focal Segmental Glomerulosclerosis | Pericarditis | Intermittent Explosive Disorder | Xeroderma Pigmentosum Variant Type | Hypotrichosis | VEXAS Syndrome | Glycogen Storage Disease Type 9 | Schizotypal Personality Disorder | Gray Platelet Syndrome | Trichothiodystrophy | Epidermal Nevus Syndrome | Renal Oncocytoma | Perry Syndrome | Episodic Ataxia | Pyruvate Carboxylase Deficiency Disease | Amyotrophic Lateral Sclerosis, Juvenile | Hypotrichosis, Congenital, With Juvenile Macular Dystrophy | Mycosis Fungoides | Hyper IgE Syndrome | Alveolar Capillary Dysplasia | Von Hippel-Lindau Disease | Ependymoma | Tinea | Nance-Horan Syndrome | Blau Syndrome | Pituitary Stalk Interruption Syndrome | Esophageal Adenocarcinoma | Nemaline Myopathy 8 | Premenstrual Syndrome | Wiedemann-Steiner Syndrome | Benign Familial Infantile Seizures | Guanidinoacetate Methyltransferase Deficiency | Bursitis | Autoimmune Hemolytic Anemia | Acromegaly | Rolandic Epilepsy | Gingivitis | Metatropic Dysplasia | Sweet Syndrome | Carbohydrate Metabolism Disorders | Barrett Esophagus | Osteoporosis | Meningococcal Meningitis | Wolman Disease | Currarino Syndrome | Fukuyama Congenital Muscular Dystrophy | Takayasu's Arteritis | Autism | Persistent Truncus Arteriosus | Batten Disease | Chondroma | Nicotine Addiction | Desmosterolosis | Leiomyosarcoma | Peeling Skin Syndrome Type B | Periventricular Nodular Heterotopia | Isovaleric Acidemia | Basal Cell Nevus Syndrome | Hyperlipidemia | Vici Syndrome | Epicondylitis | Spinocerebellar Ataxia Type 7 | Anterior Segment Dysgenesis | Ameloblastic Carcinoma | Anorectal Malformations | Fahr Disease | Pearson Syndrome | Malignant Fibrous Histiocytoma | Hereditary Mixed Polyposis Syndrome | Thyroiditis | Neuromyelitis Optica | Congenital Heart Defects | Arrhythmogenic Right Ventricular Cardiomyopathy | Multifocal Motor Neuropathy | Lymphedema-distichiasis Syndrome | Hyperekplexia | Mumps | Holoprosencephaly | Hyperphosphatasia With Intellectual Disability Syndrome 4 | Avellino Corneal Dystrophy | Ghosal Syndrome | Coloboma | Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis | Neurofibroma | Intestinal Hypomagnesemia 1 | Teratozoospermia | Adams-Oliver Syndrome | Raynaud Phenomenon | Chronic Leukemia | Usher Syndrome Type II | Fucosidosis | Spondylometaphyseal Dysplasia | Epidermolysis Bullosa Dystrophica | Antisynthetase Syndrome | Diabetes | Allergic Contact Dermatitis | Trimethylaminuria | Spinocerebellar Ataxia Type 8 | Myoclonic Atonic Epilepsy | Blomstrand Osteochondrodysplasia | Malaria | Malignant Peripheral Nerve Sheath Tumor | Hepatorenal Syndrome | Crisponi Syndrome | Hartsfield Syndrome | Tremor | Pseudohypoparathyroidism Type 2 | Tuberculosis | Kawasaki Disease | Diffuse Mesangial Sclerosis | Acanthosis Nigricans | Common Variable Immunodeficiency | Otosclerosis | Hypobetalipoproteinemias | Dyskeratosis Congenita | Distal Myopathy 2 | Insulin Resistance | Congenital Sodium Diarrhea | Epidermolysis Bullosa Simplex, Localized | Proteus Syndrome | Fetal Alcohol Syndrome | Micropenis | Papillorenal Syndrome | Hemoglobinopathies | Treacher Collins Syndrome | Sepiapterin Reductase Deficiency | Kaposi Sarcoma | Skin Carcinoma | Ganglioneuroma | Spinocerebellar Ataxia Type 38 | Porokeratosis | Liebenberg Syndrome | HELLP Syndrome | Pernicious Anemia | Mosaic Variegated Aneuploidy Syndrome 2 | Walker-Warburg Syndrome | REM Sleep Behavior Disorder | Venous Insufficiency | Trigonocephaly | Fascioliasis | Spinocerebellar Ataxia Type 23 | Amblyopia | Leukodystrophies | Carcinoid Syndrome | Reye Syndrome | Tetanus | T-cell Chronic Lymphocytic Leukemia | Hypopigmentation | Liddle Syndrome | Smith-Lemli-Opitz Syndrome | Molybdenum Cofactor Deficiency | Myelomeningocele | Gardner Syndrome | Ichthyosis | Arthropathy | Periventricular Leukomalacia | Mucolipidosis Type IV | SAPHO Syndrome | Overactive Bladder | Ligneous Conjunctivitis | Fuchs Dystrophy | Spermatocele | Spinocerebellar 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Accumulation | Early Infantile Epileptic Encephalopathy 13 | Diabetes Insipidus, Nephrogenic | Martsolf Syndrome | Pneumonia, Bacterial | Neuronal Ceroid Lipofuscinosis | CREST Syndrome | Spinal Muscular Atrophy Type 2 | Hemolytic Anemia | Meckel-Gruber Syndrome | Spinocerebellar Ataxia Type 3 | Split Hand-foot Malformation | Alopecia Totalis | Intracranial Hypertension | Herpes Genitalis | Scleritis | Acrodysostosis | Dengue Hemorrhagic Fever | Cold Agglutinin Disease | Spinocerebellar Ataxia Type 1 | Rubeosis Iridis | Transthyretin-related Amyloidosis | Charcot-Marie-Tooth Disease Type 4E | Shwachman-Bodian-Diamond Syndrome | Pseudohypoparathyroidism Type 1C | Lymphangiomatosis | Smith-Kingsmore Syndrome | Methemoglobinemia | Rhabdomyosarcoma | Agammaglobulinemia | Otitis Media | Progressive Encephalopathy-optic Atrophy Syndrome | Arteriovenous Malformations | Cerebral Cavernous Malformations | Brenner Tumor | Basan Syndrome | Central Pain Syndrome | Bacterial Meningitis | Retinal 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