Hypercholesterolemia
About the Disease
Hypercholesterolemia, Familial, 3, also known as hypercholesterolemia, autosomal dominant, 3, is related to hyperaldosteronism, familial, type iii and strabismus. An important gene associated with Hypercholesterolemia, Familial, 3 is PCSK9 (Proprotein Convertase Subtilisin/Kexin Type 9). The drugs Probucol and Cilostazol have been mentioned in the context of this disorder. Affiliated tissues include heart, endothelial and skin, and related phenotypes are hypercholesterolemia and xanthelasma
Common Targets / Biomarkers
G348 | G2740 | G5743 | Monoamine oxidase (MAO) (nonspecified subtype) | G2642 | G6720 | G432 | Asialoglycoprotein Receptor (ASGPR) (nonspecified subtype) | NADPH Oxidase (nonspecified subtype) | G1588 | G336 | G1071 | G6696 | G4023 | G7422 | P36692 | G3294 | G338557 | P13024 | G1576 | G5243 | G3491 | G6622 | G117579 | G10221 | G337 | G3949 | G1581 | G5550 | G116519 | G3791 | G2864 | G3576 | G1956 | G7068 | G283208 | G29881 | G11309 | G7376 | G2222 | G7015 | G27329 | G84649 | G3066 | Chymotrypsin (nonspecified subtype) | G183 | G7124 | G9370 | G10013 | P5859 | G595 | G3620 | Phospholipase A2 (nonspecified subtype) | Cholesterol esterase (nonspecified subtype) | G1586 | G6564 | G949 | G3091 | G6272 | G10062 | G6198 | Liver Bile Transporters (LBAT) (nonspecified subtype) | G1991 | G115330 | G1636 | G406906 | G3988 | G8698 | G4049 | G5465 | Calcium channel (nonspecified subtype) | G3553 | Lipoxygenase (nonspecified subtype) | G26119 | G345 | Oxysterols receptor LXR (nonspecified subtype) | Acetylcholine Receptors (Nicotinic) (nAChR) (nonspecified subtype) | Peroxisome Proliferator-Activated Receptors (PPAR) (nonspecified subtype) | G2100 | G255738 | G3156 | G4878 | G4780 | G100379251 | G4137 | G2696 | G8856 | G19 | G1952 | G1903 | G64240 | Histone acetyltransferase (HAT) (nonspecified subtype) | P6058 | G1859 | G1244 | G4852 | Estrogen receptor (nonspecified subtype) | G1066 | G3290 | G5034 | G5467 | G6554 | G1803 | P16126 | G7099 | G4547 | G540 | G64241 | G64805 | G3065 | G231 | Trypsin (nonspecified subtype) | P40594 | G841 | G3605 | G140 | Triacylglycerol Lipase (TG Lipase) (nonspecified subtype) | G6646 | G2538 | G3990 | G4047 | G7498 | G5007 | G2932 | G341 | G5742 | G5770 | G9429 | G9971 | G43 | G6713 | G5468 | G6256 | G1577 | G6927 | G3480 | Sterol O-acyltransferase (ACAT) (nonspecified subtype) | G2166 | G10494 | Platelet-Derived Growth Factor Receptor (nonspecified subtype) | G7296 | G2264 | G32 | G2099 | G3630 | Sodium channel (nonspecified subtype) | G8843 | G6555 | G335 | G2194 | G836 | Poly [ADP-ribose] polymerase (nonspecified subtype) | Mitogen-Activated Protein Kinase (nonspecified subtype) | G6523 | P11025 | G47 | G356 | G3292 | Sterol Regulatory Element-Binding Protein (nonspecified subtype) | G8435 | G154 | G22808 | G2328 | G3991 | G1786 | G10599 | G4018 | G23071 | G5406 | G338442 | G50508 | G338 | G619373 | G54658 | G7067 | G2488 | G8974 | G367 | P24924 | G23387 | G2717 | G10495 | G80036 | G9388 | G1901
Other Diseases
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 | Macular Corneal Dystrophy Type 1 | Macular Degeneration | Majeed Syndrome | Major Depression | Malaria | Malaria, Cerebral | Malignant Fibrous Histiocytoma | Malignant Peripheral Nerve Sheath Tumor | Malnutrition | Malonyl-CoA Decarboxylase Deficiency | Mandibuloacral Dysplasia With Type A Lipodystrophy | Mannosidase Deficiency Diseases | Maple Syrup Urine Disease | Marfan Syndrome | Marinesco-Sjogren Syndrome | Marshall-Smith Syndrome | Martsolf Syndrome | Mast Cell Leukemia | Mastitis | Maternally Inherited Diabetes And Deafness | McCune-Albright Syndrome | McKusick Type Metaphyseal Chondrodysplasia | McLeod Syndrome | Measles | Meckel-Gruber Syndrome | Meconium Ileus | Medium-chain Acyl-CoA Dehydrogenase Deficiency | Medulloblastoma | Meesmann Corneal Dystrophy | Megacystis-microcolon-intestinal Hypoperistalsis Syndrome | Megalencephaly | Megaloblastic Anemia | Meier-Gorlin Syndrome | Melanocytic Nevus | Melanoma | Melanoma, Malignant | Melanoma, Uveal | MELAS Syndrome | Meleda Disease | Melnick-Needles Syndrome | Membranous Nephropathy | Meniere's Disease | Meningeal Melanocytoma | Meningioma | Meningioma, Benign | Meningitis | Meningococcal Infections | Meningococcal Meningitis | Menkes Disease | Mesial Temporal Lobe Epilepsy With Hippocampal Sclerosis | Mesothelioma, Malignant | Metabolic Diseases | Metabolic Syndrome | Metachondromatosis | Metachromatic Leukodystrophy | Metaphyseal Chondrodysplasia, Schmid Type | Metatropic Dysplasia | Methemoglobinemia | Methemoglobinemia Type IV | Methylmalonic Acidemia | Methylmalonic Aciduria And Homocystinuria, CblC Type | Mevalonate Kinase Deficiency | Microcephalic Osteodysplastic Primordial Dwarfism, Type II | Microcephalic Primordial Dwarfism | Microcephaly | Microcephaly, Seizures, And Developmental Delay | Micropenis | Microphthalmia | Microphthalmia, Syndromic 7 | Microtia | Microvillus Inclusion Disease | Migraine | Milk Allergy | MIRAGE Syndrome | Mitochondrial Cytopathy | Mitochondrial Disease | Mitochondrial DNA Depletion Syndrome | Mitochondrial DNA Depletion Syndrome 13 | Mitochondrial DNA Depletion Syndrome, Encephalomyopathic Form | Mitochondrial DNA Depletion Syndrome, Hepatocerebral Form | Mitochondrial DNA Depletion Syndrome, Myopathic Form | Mitochondrial Encephalomyopathy | Mitochondrial Myopathy | Mixed Connective Tissue Disease | Miyoshi Myopathy | Mohr-Tranebjaerg Syndrome | Molybdenum Cofactor Deficiency | Monilethrix | Mood Disorder | Mosaic Variegated Aneuploidy Syndrome 2 | Motion Sickness | Motor Neuron Diseases | Mountain Sickness | Moyamoya Disease | Muckle-Wells Syndrome | Mucolipidosis | Mucolipidosis Type II | Mucolipidosis Type III | Mucolipidosis Type IV | Mucormycosis | Muir-Torre Syndrome | Multicentric Carpotarsal Osteolysis Syndrome | Multicystic Renal Dysplasia | Multifocal Motor Neuropathy | Multiple Congenital Anomalies-hypotonia-seizures Syndrome 2 | Multiple Epiphyseal Dysplasia | Multiple Hamartoma Syndrome | Multiple Myeloma | Multiple Sclerosis | Multiple Sclerosis, Chronic Progressive | Multiple Sclerosis, Primary Progressive | Multiple Sclerosis, Relapsing-remitting | Multiple Sclerosis, Secondary Progressive | Multiple Sulfatase Deficiency | Multiple System Atrophy | Mumps | Muscle Wasting | Muscular Dystrophy | Myasthenia | Myasthenia Gravis | Mycosis Fungoides | Myelitis | Myelitis, Transverse | Myelodysplasia | Myelofibrosis | Myeloid Leukemia | Myelomeningocele | Myhre Syndrome | Myocardial Infarction | Myocarditis | Myoclonic Atonic Epilepsy | Myoclonic Epilepsy With Ragged Red Fibers | Myoclonus | Myoclonus-dystonia Syndrome | Myofibrillar Myopathy | Myofibromatosis | Myopathy | Myopia | Myosin Storage Myopathy | Myositis | Myositis, Focal | Myotonia | Myotonic Disorders | N-acetylglutamate Synthase Deficiency | Nail-Patella Syndrome | Nance-Horan Syndrome | Nanophthalmos | Narcolepsy | Nasodigitoacoustic Syndrome | NDH Syndrome
