Ghosal Syndrome
About the Disease
Ghosal Hematodiaphyseal Dysplasia, also known as ghosal syndrome, is related to camurati-engelmann disease and myelofibrosis. An important gene associated with Ghosal Hematodiaphyseal Dysplasia is TBXAS1 (Thromboxane A Synthase 1), and among its related pathways/superpathways are Transcription_Role of VDR in regulation of genes involved in osteoporosis and Type I collagen synthesis in the context of osteogenesis imperfecta. Affiliated tissues include bone, bone marrow and skin, and related phenotypes are craniofacial hyperostosis and bowing of the long bones
Common Targets / Biomarkers
G6916
Other Diseases
Giant Axonal Neuropathy | Giant Cell Arteritis | Giant Cell Glioblastoma | Gigantism | Gilbert Syndrome | Gingivitis | Gitelman Syndrome | Glanzmann Thrombasthenia | Glaucoma | Glaucoma, Congenital | Glaucomatocyclitic Crisis | Glioblastoma | Glioblastoma Multiforme | Glioma | Gliosarcoma | Globozoospermia | Glomerulonephritis | Glomerulonephritis, Membranoproliferative | Glomerulonephritis, Membranous | Glucagonoma | GLUT1 Deficiency Syndrome | Glutaric Aciduria Type 1 | Glutaric Aciduria Type 2 | Glutaric Aciduria Type 3 | Glutathione Synthetase Deficiency | Glycogen Storage Disease | Glycogen Storage Disease Type 0 | Glycogen Storage Disease Type 0, Muscle | Glycogen Storage Disease Type 1 | Glycogen Storage Disease Type 1a | Glycogen Storage Disease Type 1b | Glycogen Storage Disease Type 3 | Glycogen Storage Disease Type 4 | Glycogen Storage Disease Type 5 | Glycogen Storage Disease Type 6 | Glycogen Storage Disease Type 9 | GM2-gangliosidosis AB Variant | Gnathodiaphyseal Dysplasia | GNE Myopathy | Goiter | Goldenhar Syndrome | Gout | Graft-versus-host Disease | Granular Corneal Dystrophy | Granular Corneal Dystrophy Type 1 | Granuloma Annulare | Graves Disease | Gray Platelet Syndrome | Greenberg Dysplasia | Greig Cephalopolysyndactyly Syndrome | Growth Hormone Excess | Guanidinoacetate Methyltransferase Deficiency | Guillain-Barre Syndrome | Guttate Psoriasis | Gynecomastia | Gyrate Atrophy Of The Choroid And Retina | H Syndrome | Haim-Munk Syndrome | Hairy Cell Leukemia | Hamartoma | HANAC Syndrome | Hartnup Disease | Hartsfield Syndrome | Hashimoto Thyroiditis | Headache | Heart Block | Heart Failure | Heart Septal Defects | Heavy Chain Disease | Heimler Syndrome | HELLP Syndrome | Hemangioblastoma | Hemangioendothelioma | Hemangioma | Hemimegalencephaly | Hemochromatosis | Hemochromatosis Type 1 | Hemochromatosis Type 2 | Hemoglobinopathies | Hemolytic Anemia | Hemolytic Uremic Syndrome | Hemolytic Uremic Syndrome, Atypical | Hemophagocytic Lymphohistiocytosis | Hemophilia | Hemorrhage | Hemorrhagic Disorders | Hemorrhoids | Hemosiderosis | Hennekam Lymphangiectasia-lymphedema Syndrome | Hepatic Adenomatosis | Hepatic Steatosis | Hepatic Veno-occlusive Disease | Hepatitis | Hepatitis A | Hepatitis B, Chronic | Hepatitis C, Chronic | Hepatitis D | Hepatitis E | Hepatitis, Alcoholic | Hepatitis, Autoimmune | Hepatitis, Chronic | Hepatoblastoma | Hepatopulmonary Syndrome | Hepatorenal Syndrome | Hereditary Coproporphyria | Hereditary Elliptocytosis | Hereditary Folate Malabsorption | Hereditary Hemorrhagic Telangiectasia | Hereditary Hemorrhagic Telangiectasia Type 2 | Hereditary Mixed Polyposis Syndrome | Hereditary Multiple Exostoses | Hereditary Neuropathy With Liability To Pressure Palsies | Hereditary Pyropoikilocytosis | Hereditary Sensory And Autonomic Neuropathy | Hereditary Sensory Neuropathy Type 1 | Hereditary Spastic Paraplegia | Hereditary Spherocytosis | Hereditary Xerocytosis | Hermansky-Pudlak Syndrome | Hernia, Inguinal | Herpes Genitalis | Herpes Simplex Dermatitis | Heterotopic Ossification | HIBCH Deficiency | Hidradenitis | Hidradenitis Suppurativa | High Molecular Weight Kininogen Deficiency | Histiocytic Sarcoma | Histiocytosis | Hodgkin Lymphoma | Holoprosencephaly | Holt-Oram Syndrome | Homocystinuria | Hoyeraal-Hreidarsson Syndrome | Huntington's Disease | Huntington's Disease-like 2 | HUPRA Syndrome | Hydrocephalus | Hydrocephalus, Normal Pressure | Hydrolethalus Syndrome | Hydronephrosis | Hydrops Fetalis | Hyper IgE Syndrome | Hyperacusis | Hyperammonemia | Hyperandrogenemia | Hyperbilirubinemia, Neonatal | Hypercalcemia | Hypercalciuria | Hypercholesterolemia | Hypercholesterolemia, Familial | Hyperekplexia | Hypereosinophilic Syndrome | Hyperferritinemia-cataract Syndrome | Hyperglycemia | Hyperhomocysteinemia | Hyperinsulinemia | Hyperinsulinemic Hypoglycemia | Hyperinsulinism-hyperammonemia Syndrome | Hyperkeratosis | Hyperlipidemia | Hyperlipidemia Type V | Hyperlipidemia, Familial Combined | Hypermethioninemia | Hypermetropia | Hyperostosis | Hyperoxaluria | Hyperparathyroidism | Hyperparathyroidism, Primary | Hyperparathyroidism, Secondary | Hyperparathyroidism-jaw Tumor Syndrome | Hyperphenylalaninemia | Hyperphosphatasia With Intellectual Disability Syndrome 4 | Hyperprolactinemia | Hypersensitivity | Hypersensitivity Pneumonitis | Hypersomnia | Hypertelorism | Hypertension | Hypertension, Essential | Hypertension, Portal | Hypertension, Pulmonary | Hypertension, Renal | Hypertension, Renovascular | Hypertensive Nephropathy | Hypertensive Retinopathy | Hyperthermia, Malignant | Hyperthyroidism | Hypertriglyceridemia | Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive 1 | Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive 2 | Hypertrophy | Hyperuricemia | Hyperuricemic Nephropathy, Familial Juvenile | Hypervalinemia | Hypoalbuminemia | Hypobetalipoproteinemias | Hypocalcemia | Hypodontia | Hypoglycemia | Hypogonadism | Hypohidrotic Ectodermal Dysplasia | Hypohidrotic Ectodermal Dysplasia, X-linked | Hypokalemia | Hypokalemic Periodic Paralysis | Hypolipoproteinemia | Hypomyelination With Atrophy Of Basal Ganglia And Cerebellum | Hypoparathyroidism | Hypophosphatemic Rickets, Autosomal Recessive, 1 | Hypopigmentation | Hypopituitarism | Hypoplastic Left Heart Syndrome | Hypoproteinemia, Hypercatabolic | Hypospadias | Hypotension, Orthostatic | Hypothyroidism | Hypotonia-cystinuria Syndrome | Hypotrichosis | Hypotrichosis Simplex | Hypotrichosis, Congenital, With Juvenile Macular Dystrophy | ICF Syndrome | Ichthyosis | Ichthyosis Bullosa Of Siemens | Ichthyosis Hystrix, Curth-Macklin Type | Ichthyosis, X-linked | Idiopathic Multicentric Castleman Disease | Idiopathic Pulmonary Fibrosis | IgA Deficiency | IgA Nephropathy | Ileitis | IMAGe Syndrome | Imerslund-Grasbeck Syndrome | Immunoproliferative Disorders | Impetigo | Impulse Control Disorder | Inborn Errors Of Metabolism | Incontinentia Pigmenti | Infantile Liver Failure Syndrome 1 | Infantile Nephropathic Cystinosis | Infantile Neuroaxonal Dystrophy | Infantile Refsum Disease | Infantile Spasm | Infectious Diarrhea | Infertility | Infertility, Male | Inflammatory Bowel Disease | Inflammatory Joint Disease | Inflammatory Linear Verrucous Epidermal Nevus | Inflammatory Myofibroblastic Tumor | Inflammatory Myopathy | Influenza | Insulin Resistance | Insulinoma | Intellectual Disability, Autosomal Dominant 5 | Intermittent Claudication | Intermittent Explosive Disorder | Interstitial Lung Diseases | Intestinal Hypomagnesemia 1 | Intestinal Obstruction | Intestinal Pseudo-obstruction | Intestinal Tuberculosis | Intracerebral Hemorrhage | Intracranial Hypertension | Iron Deficiency Anemia | Iron Metabolism Disorders | Iron Overload | Irritable Bowel Syndrome | Ischemia | Isobutyryl-CoA Dehydrogenase Deficiency | Isovaleric Acidemia | Jacobsen Syndrome | Jalili Syndrome | Japanese Encephalitis | Jaundice, Obstructive | Jawad Syndrome | Johanson-Blizzard Syndrome | Joubert Syndrome | Joubert Syndrome 2 | Juvenile Hyaline Fibromatosis | Juvenile Myelomonocytic Leukemia | Juvenile Myoclonic Epilepsy | Juvenile Polyposis | Juvenile Xanthogranuloma | Kabuki Syndrome | Kabuki Syndrome 2 | Kallmann Syndrome | Kaposi Sarcoma | Kaposiform Hemangioendothelioma | Kashin-Beck Disease | Kawasaki Disease | KBG Syndrome | Kearns-Sayre Syndrome | Keloid | Keratitis | Keratitis-ichthyosis-deafness Syndrome | Keratoacanthoma | Keratoconjunctivitis | Keratoconus | Keratocystic Odontogenic Tumor | Keratopathy | Keratosis | Keratosis, Actinic | Keratosis, Seborrheic | Kernicterus | Kidney Stones | Kindler Syndrome | Kleine-Levin Syndrome | Klinefelter Syndrome | Klippel-Feil Syndrome | Knobloch Syndrome | Kohlschutter-Tonz Syndrome | Krabbe Disease | L-2-Hydroxyglutaric Aciduria | Lactose Intolerance | Lafora Disease | Lamellar Ichthyosis | Language Disorders | Large Granular Lymphocytic Leukemia | Larsen Syndrome | Lassa Fever | Lateral Meningocele Syndrome | Lathosterolosis | Lattice Corneal Dystrophy | Lattice Corneal Dystrophy Type 1 | Learning Disability | Leber Congenital Amaurosis | Leber Hereditary Optic Neuropathy | Left Ventricular Noncompaction | Leiomyoma | Leiomyosarcoma | Leishmaniasis, Cutaneous | Leishmaniasis, Visceral | Lennox-Gastaut Syndrome | Lentigo | LEOPARD Syndrome | Leprosy | Leri Pleonosteosis | Leri-Weill Dyschondrosteosis | Lesch-Nyhan Syndrome | Leukemia | Leukemia-lymphoma, Adult T-cell | Leukocyte Adhesion Deficiency | Leukocyte Adhesion Deficiency Type 1 | Leukodystrophies | Leukoencephalopathy, Progressive Multifocal | Leukoplakia | Leukoplakia, Oral | Lewy Body Dementia | Li-Fraumeni Syndrome | Lichen Planus | Lichen Sclerosus | Liddle Syndrome | Liebenberg Syndrome | Light Chain Amyloidosis | Ligneous Conjunctivitis | Limb Girdle Muscular Dystrophy | Lipid Metabolism Disorders | Lipid Storage Diseases | Lipid Storage Myopathy | Lipodystrophy | Lipoma | Lissencephaly 2 | Liver Diseases | Liver Failure | Liver Failure, Acute Infantile | LMNA-related Congenital Muscular Dystrophy | Localized Scleroderma | Loeys-Dietz Syndrome | Loeys-Dietz Syndrome Type 4 | Long QT Syndrome Type 1 | Long QT Syndrome Type 2 | Long QT Syndrome Type 3 | Long-chain 3-hydroxyacyl-coenzyme A Dehydrogenase Deficiency | Low Phospholipid Associated Cholelithiasis | Low Tension Glaucoma | LRBA Deficiency | Lung Diseases | Lupus Erythematosus | Lyme Disease | Lymphangioleiomyomatosis | Lymphangioma | Lymphangiomatosis | Lymphedema | Lymphedema-distichiasis Syndrome | Lymphoma | Lymphoma Lymphoblastic | Lymphoma, AIDS-related | Lymphoma, B-cell | Lymphoma, Follicular | Lymphoma, Mantle Cell | Lymphoma, Primary Cutaneous Anaplastic Large Cell | Lymphomatoid Granulomatosis | Lymphoproliferative Disease, X-linked | Lymphoproliferative Disorders | Lysosomal Acid Lipase Deficiency | Mabry Syndrome | Macrodactyly | Macrophage Activation Syndrome | Macrophagic Myofasciitis | Macular Corneal Dystrophy