- Acute hemodynamic instability
The term “hemodynamic instability” is most commonly associated with an abnormal or unstable blood pressure, especially hypotension. More broadly, it is defined as global or regional perfusion that is not adequate to support normal organ function due to for example inefficient cardiac contraction.
- Agonist
A compound, hormone or neurotransmitter imitating a substance found for example in or on human cells. By binding to a specific cell receptor, it can alter the receptor activity as if it were the specific substance itself.
See also antagonist
Related links
G-Protein Coupled Receptor
S1P1 receptor agonism
Prostacyclin receptor agonism - Allergy
An allergy is a specific type of immune reaction (type 1 hypersensitivity). The immune system may respond to foreign microorganisms or particles by producing specific proteins called antibodies. These antibodies are capable of binding to specific sites, or antigens, on the foreign particle. The recognition between antibody and antigen sets off a series of chemical and biological reactions designed to protect the body from infection. Sometimes, the body might overreact and produce antibodies against harmless, everyday substances such as pollen, dust, and animal dander. When this occurs, an allergy may develop against the offending substance (which is then called an allergen).
Related links
Immunology - Alzheimer's disease
A form of dementia, a progressive neurodegenerative disease that typically affects the elderly. Each patient may experience symptoms and disease progression very differently.
Related links
Alzheimer's disease - American Thoracic Society (ATS)
The American Thoracic Society is a non-profit, international, professional and scientific society with a focus on respiratory disease, critical care and sleep medicine.
- Anemia
A pathological deficiency in the oxygen-carrying component of the blood, measured in concentrations of hemoglobin, red blood cell volume, or red blood cell number.
Related links
What is Gaucher disease? - Aneurysmal subarachnoid hemorrhage (aSAH)
An aneurysm is a dilated or ballooned spot on the wall of a weakened blood vessel, e.g., in the brain. If such an aneurysm ruptures, blood is released into the subarachnoid space of the brain, i.e., between the membranes surrounding the brain.
Related links
aSAH - Angiotensin II
A peptide hormone present in the blood stream which has a signaling function, and which interacts with cellular receptors.
Angiotensin II increases blood pressure.Related links
Renin angiotensin system - Antagonist
A substance that opposes or alleviates the pharmacological effect of another compound. By binding to specific cell receptors, an antagonist can oppose, lessen or block the activity of an agonist acting on the same cell receptors.
Related links
G-Protein Coupled Receptors
CRTH2 receptor antagonism
Endothelin receptor antagonism - Antibiotics
Substances which reduce the growth of, or kill, the growth of microorganisms such as bacteria.
Related links
Infectious diseases
Anti-infectives - Anti-infectives
See antibiotics
- Aspartic proteinases
A family of enzymes which cleave within proteins, and which achieve their activity by using an arrangement of two aspartic acids at their active site to activate a water molecule, which then acts as a chemical "scissor".
Related links
Soluble enzymes - Assay
A procedure or test in which a property such as biological activity or cellular signaling is measured.
Related links
Drug discovery process
Biochemistry
Molecular cell biology
Pharmacokinetics and metabolism - Autoimmune disease
An inappropriate response of the immune system against the body's own tissues.
Related links
Immunology - Autosomal recessive
A pattern of inheritance in which both copies of an autosomal gene must be abnormal for a genetic condition or disease to occur.
If both parents have one abnormal copy of the same gene, the chance that their offspring will have the disorder is 25% for each pregnancy.Related links
Genetic disorders
How is Gaucher disease diagnosed? - Bioavailability
Describes the extent (usually as a percentage) to which an administered substance reaches the systemic circulation. If a medication is administered intravenously, all of it reaches the blood, so it is 100% bioavailable by definition. If the drug is taken orally, the bioavailability is lower because the drug's absorption is incomplete, and the concentration is reduced before it arrives in the circulatory system.
Related links
Pharmacokinetics and metabolism
New chemical entities - Biochemistry
A scientific discipline involving the study of chemical substances, processes and reactions in living cells, tissues, organs and organisms.
Related links
Biochemistry - Biopharmaceutical company
A biopharmaceutical company uses biological techniques to produce a pharmaceutical product. Actelion is a biopharmaceutical company.
Related links
Facts & Figures - Blood-brain barrier
A layer of tightly-packed cells in and around the small blood vessels in the brain that prevent many medications and other substances from entering the brain. It serves to protect the central nervous system.
Related links
Central nervous system
Pharmacology - Bone crisis
Also called bone infarction, which means tissue death, in this case in the bones. Tissue dies because of a lack of oxygen as a result of a blocked blood supply.
Related links
Genetic disorders - Cancer
A group of diseases in which cells grow unrestrained in an organ or tissue of the body. Uncontrolled cell growth can spread to tissues around it, and destroy them, or be transported through blood or lymph pathways to other parts of the body.
Related links
Oncology - Cardio-renal disorder
- Cardiovascular disease
Any condition in which there is a disturbance in the function of the heart or blood vessels.
Related links
Cardiovascular disorders - Central nervous system (CNS)
The central nervous system compromises the brain and the spinal cord, and is the central control network for the entire body.
Related links
Central nervous system - Chitotriosidase
A chitinase enzyme found in the blood. Its enzymatic activity is markedly elevated in the serum of patients suffering from lysosomal lipid storage disorders such as Gaucher disease. Levels are significantly increased in patients with symptomatic Gaucher disease. Chitotriosidase can be used as an indicator of the severity of the disease.
Related links
Type 1 Gaucher disease - Chronic obstructive thromboembolic pulmonary hypertension (CTEPH)
Pulmonary hypertension associated with thrombotic or embolic diseases (Group IV according to the Venice classification).
- Circadian rhythm disorders
An innate cycle at approximately 24 hour intervals in the biochemical, physiological or behavioral processes of living beings, e.g., sleep/wake rhythm.
Irregular or pathological functioning of the circadian rhythm can result in disruption of one or more physiological processes at the cellular level, leading to conditions such as sleep disorders.Related links
Sleep & sleep disorders - Clinical Trial Application (CTA), EU
The submission of an application by a drug manufacturer to a regulatory authority of an EU Member State, requesting authorization to conduct a clinical trial with an investigational medicinal product.
Related links
Drug discovery & development - Clinical trials
After a compound has undergone rigorous testing in drug discovery and preclinical development, its pharmacological and/ or other pharmacodynamic effects and its safety and efficacy are investigated in humans.
See also Phase I, Phase II, Phase III and Phase IV
Related links
Clinical trials - Community-acquired infections
Infections acquired through daily interactions within a community, in contrast with hospital-acquired infections. Generally, the two types of infections differ in their response to medicines.
Related links
Anti-infectives - Cystic Fibrosis (CF)
An autosomal recessive genetic disorder that leads to multi-system organ dysfunction.
Cystic fibrosis involves epithelial cells, and classically impacts the lungs, upper respiratory tract/sinuses, pancreas, liver/bile ducts, intestines, reproductive tract, bones, and sweat glands. The most serious consequence of CF is respiratory disease. Due to mucus hyperviscosity, individuals with CF develop chronic lung infections, leading to chronic inflammation and lung scarring. Progressive lung dysfunction is the most significant cause of morbidity and mortality.Related links
Genetic disorders - Cytokines
A group of proteins and peptides released by many types of cells which act as signaling molecules between cells.
Related links
Allergic response - Diastolic pressure
The lowest level to which blood pressure falls between contractions of the ventricles, when the heart relaxes.
- Digital ulcers
Necrotic lesions located on the fingers, a common complication of systemic sclerosis.
Digital ulcers are very painful, and result in difficult-to-heal open sores on fingers and toes. They leave depressed scars and adversely impact the ability to perform work and daily activities, particularly those associated with fingertip functions. In severe cases, infection can become a complication, leading to osteomyelitis and gangrene, for which surgery and even amputation may be required.Related links
Endothelin system - Drug discovery
Research process to identify, select and optimize compounds (biological, genetic or protein targets linked to a particular disease) for clinical investigation.
Related links
Drug discovery process - Drug resistance
A description of pathogens when they are unaffected by a drug or when the drug has a reduced effect on them.
Related links
Infectious diseases strategy - Dyspnea
Shortness of breath, difficulty breathing.
See also pulmonary arterial hypertension
- Edema
Swelling resulting from fluid accumulation in tissue. When standing, edema occurs in the lower parts of the limbs.
- Eisenmenger's syndrome
Also called Eisenmenger's reaction. The process in which a left-to-right shunt in the heart causes increased flow through the pulmonary vasculature, causing pulmonary hypertension, which in turn causes increased pressures in the right side of the heart, and a reversal of the shunt into a right-to-left shunt.
- Electrophysiology
A scientific discipline concerned with the study of electrical activity in biological cells and tissues. Electrophysiologists measure voltage change, or electrical current flow, on a wide variety of scales, from single ion channel proteins to whole tissues such as the heart.
Related links
Ion channels - Endothelin (ET)
A peptide hormone produced by the endothelium and known to be one of the most potent of the endogenous vasoconstrictor hormones. Recent research shows that ET is also a growth factor, a promoter of fibrosis and inflammation, and a key initiator of endothelial dysfunction. ET-1 is the predominant form, and is produced by endothelial cells.
Related links
Endothelin system - Endothelin receptor antagonist (ERA)
A substance that binds to receptors in place of endothelin, thereby hindering the effect of endothelin on the cell. As an approach for the treatment of endothelin-related disorders such as pulmonary arterial hypertension (PAH) ERAs work by reducing vascular resistance and potentially improving blood circulation (hemodynamics). This mechanism enables clinicians to both treat symptoms and stabilize the disease.
Related links
Endothelin receptor antagonism - Endothelin receptors (ETA and ETB)
Endothelin receptor A (ETA) and endothelin receptor B (ETB) are the docking places on a cell where endothelin binds. ETA and ETB receptors help to regulate the dilation and constriction of blood vessels throughout the human body. In addition, these two receptors located in the smooth muscle cells, fibroblasts, and endothelial cells, mediate cell proliferation, fibrosis and hypertrophy. In pulmonary arterial hypertension (PAH), the ETA and ETB receptors bind endothelin (ET-1) produced by endothelial cells. This leads to severe vasoconstriction, smooth-muscle-cell growth, and hypertrophy, seriously limiting blood flow through the lungs.
Related links
Endothelin receptor antagonism - Endothelium
The innermost cell layer in blood vessels separating the bloodstream from the vessel wall. The endothelium plays an important role in the maintenance of the integrity of blood vessels.
See also endothelin (ET)
Related links
The endothelium - Enzyme
Complex proteins (polymers of amino acids) produced by the living cell. As biochemical catalysts, they control chemical and metabolic reactions in living organisms.
Related links
Enzymes - Enzyme replacement therapy (ERT)
A type of medical treatment for patients who lack an important enzyme, in which the missing enzyme is directly administered to the patient.
Related links
How is GD1 diagnosed? - Fibrosis
A process by which inflamed tissue becomes scarred in organs such as the lung, heart, or kidney.
See also idiopathic pulmonary fibrosis (IPF)
Related links
Endothelin system - Galenics
Standard medicinal preparations, containing one or more ingredients often in specifically defined concentrations, optimizing bioavailability of the drug.
Related links
Preformulation & formulation - Gaucher cell
A macrophage that is enlarged from the build-up of glucosylceramide substrate. Gaucher cells are characteristic of Gaucher disease, and are found particularly in the spleen, liver and bone marrow, but also in other tissues such as the lungs, skin, eyes, kidney, heart, and, in some instances, the nervous system.
Related links
Genetic disorders - Genetic carrierA genetic carrier (or simply 'carrier') is a person, or other organism, that has inherited a genetic trait or mutation, but does not display/manifest that trait or show symptoms of the disease. A carrier is, however, able to pass the gene to offspring, and the offspring may then express the gene.
Related links
Genetic disorders - Glucocerebrosidase
An enzyme which is needed to break down glucosylceramide and which is deficient in type 1 Gaucher disease.
Related links
Type 1 Gaucher disease (GD1)
Genetic disorders - Glucosylceramide
The fatty substrate that accumulates primarily in the macrophages of people with type 1 Gaucher disease to levels that can lead to various physiological effects such as enlarged liver and spleen.
See also Gaucher cell
Related links
Type 1 Gaucher Disease (GD1) - Glycolipids
Carbohydrate-attached lipids which supply energy and serve as markers for cellular recognition.
Related links
Type 1 Gaucher disease (GD1) - G-protein
G proteins can bind guanine nucleotides GDP and GTP. They are made of three different sub units associated with the inner surface of the plasma membrane and with transmembrane receptors called G protein coupled receptors (GPCRs).
Related links
G-Protein coupled receptors - G-protein coupled receptors (GPRCs)
When a hormone, or a ligand, binds to this receptor, the G-protein is activated and subsequently transmits biochemical signals across the cell membrane.
Related links
G-Protein coupled receptors - Heart failure
Occurs when the heart muscle loses its ability to pump enough blood to meet the body's metabolic needs. The condition falls under two categories: acute heart failure and chronic heart failure.
Related links
Endothelin system - Hemodynamic(s)
The forces generated by the heart and the motion of blood through the cardiovascular system.
Related links
Cardiovascular disorders - Hemoglobin
The iron-containing oxygen-transport protein in red blood cells, which transports oxygen from the lungs to the rest of the body.
- Hormones
Substances produced by a living cell. As hormones pass into the blood stream they are carried to their target organs and tissues, where they produce specific effects. Overall, they act to modify the structure or function of organs and tissues.
Related links
G-Protein coupled receptors
Renin angiotensin system - Hypersomnia
Sleepiness that is greater than usual or desirable, including extended nocturnal sleep, unplanned daytime sleep, and an inability to remain awake or alert.
Related links
Sleep disorders - Idiopathic pulmonary fibrosis (IPF)
A progressive and usually fatal disease, which may arise idiopathically (cause unknown), or in association with an underlying diseases such as systemic sclerosis. In IPF, fibrosis destroys both the structure and function of the respiratory system. Patients experience progressive dyspnea due to loss of lung function and scarring of the lung. As tissue becomes thicker it causes an irreversible loss of the tissue's ability to transfer oxygen into the bloodstream.
Related links
Idiopathic Pulmonary Fibrosis (IPF) - Immunology
A scientific discipline involving the study of the immune system. Immunology focuses on the physiology and pathology of the immune system in immunological disorders such as autoimmune diseases, immune deficiency, hypersensitivity and allergies and transplant rejection.
Related links
Immunology
Allergic response
S1P system - Infarction
Tissue death resulting from insufficient supply of oxygen, due to blockage of the blood supply to a localized area or organ.
- Insomnia
Inability to fall asleep, or to remain asleep as much as required to feel rested.
Related links
Central nervous system
Sleep disorders - Investigational New Drug (IND), US
An application by a sponsor to the US Food and Drug Administration (FDA) for permission to conduct clinical investigations with a new drug.
- In vitro
A test or experiment carried out in an artificial environment such as a test tube.
Related links
Drug discovery & development - In vivo
- Ion channels
Transmembrane pores that allow the passage of ions (charged molecules) into or out of a cell. There are hundreds of different ion channels, distinguished by ion selectivity, opening mechanism, and protein sequence. Ion channels can be opened by chemical ligands, voltage fluctuations, acidity changes, temperature variations, or mechanical stimuli such as touch or sound.
Related links
Ion channels - Lead compound
A chemical that shows desirable efficacy and toxicological characteristics, and which may be considered for further development.
Related links
Drug discovery & development
Drug discovery process - Leukocytes
See white blood cells
- Lysosomal storage disorders
A class of genetic disorders, caused by the deficiency or malfunction of specific enzymes found in cell lysosomes, and which lead to the accumulation of waste material in cells.
- Lysosome
A sac-like compartment inside cells in which enzymes break down waste molecules for reuse (recycling).
- Macrophage
A specialized cell type with many different functions including the destruction of bacteria and foreign particles, production of chemokines, antigen processing and presentations, as well as degeneration of the body's own, worn out cells. The macrophages "eat" these cells, degrade them into smaller molecules inside cell compartments called lysosomes, and subsequently release these smaller molecules for re-use in new cells.
Related links
S1P1 agonism - Marketing Authorisation Application (MAA), EU
An application for marketing authorisation submitted by a pharmaceutical company within the European Union. In the EU a centralized procedure is available.
Related links
Drug discovery & development - Medicinal chemistry
A scientific discipline between chemistry and pharmacology, which includes the design, synthesis and development of substances that eventually become pharmaceuticals. The study of existing drugs, their biological properties, and their quantitative structure-activity relationship (QSAR), is also a focus of medicinal chemistry.
Related links
Drug discovery process - Metabolic disorder
The body derives energy from food by breaking down proteins, carbohydrates and fats into sugars and acids, a process called metabolism. A metabolic disorder is a medical condition that involves the disruption of the normal metabolism by abnormal chemical reactions, e.g., missing enzymes.
Related links
Type 1 Gaucher disease (GD1) - Molecular biology
A scientific discipline involving the study of biology at a molecular level, focusing mainly on physiochemical and biological organization (interaction and regulations) and synthesis of cell systems. (Including ribonucleid acid (RNA), which is essential for protein synthesis in all living cells, deoxyribonucleid acid (DNA), which carries genetic information and proteins.)
Related links
Drug discovery process - Myocardial infarctionAlso called a heart attack. The death of heart muscle tissue (myocardial tissue) due to deprivation of circulating blood.
- Myoclonus
A brief uncontrolled twitching or contraction of a muscle or group of muscles.
- Neurobiology
The study of the anatomy, physiology and pathology of the nervous system, also at the nerve cell level. Neurobiology is concerned with how different nerve cells are organized together, and how they process information and ultimately mediate the behavior of the organism.
Related links
Drug discovery process - Neuronopathic
Affecting the brain or nervous system. Many lysosomal storage disorders have both neuronopathic and non-neuronopathic types.
Related links
Type 1 Gaucher disease (GD1) - Neurotransmitter
A chemical sending nerve impulses from a neuron to another cell, which can set off a signal in the receiving cell, or stop the transmission of a signal. The signal is usually followed by a specific effect in the receiving cell.
Related links
Central nervous system - New chemical entity (NCE)
- New Drug Application (NDA), US
An application submitted by a drug sponsor to the US Food and Drug Administration (FDA) for approval of a new pharmaceutical for sale and marketing.
Related links
Drug discovery & development - Niemann Pick type C (NP-C) disease
A rare genetic disorder affecting mostly childhood and adolescence. It is life threatening with a short life expectancy. The underlying cause is a protein defect leading to impaired intracellular lipids trafficking. As a consequence, glycosphingolipids (GSL) accumulate in neurons, leading to neuronal cell dysfunctioning and death, and clinically to severe neurological manifestations.
Related links
Genetic disorders - Non-neuronopathic
A medical condition without neurological symptoms.
- Oncology
A scientific discipline involving the investigation of the molecular pathophysiology of cancer.
Related links
Oncology - Oral administration
Taking medication by mouth.
- Organic chemistry
A scientific discipline involving the study of carbon compounds and their reactions. A wide variety of classes of substances – such as drugs, vitamins, plastics, natural and synthetic fibers, carbohydrates, proteins, and fats – consist of organic molecules.
- Orphan disease
A rare, life threatening disease affecting fewer than 200,000 persons in the United States / or fewer than 5 per 10,000 persons in the European Union.
- Orphan drug status
A designation (also known as an orphan medicinal product) to provide incentives (tax reductions and marketing exclusivity for an extended time) for companies to develop and market treatments for orphan diseases.
- PAH
See pulmonary arterial hypertension
- Parasomnia
Arousal from sleep, including sleepwalking, night terrors, bedwetting and narcolepsy.
Related links
Sleep disorders - Patent application
An application to a patent office for a patent for an invention, which grants property rights to the inventor.
Related links
R&D approach - Pathogens
Viruses, bacteria or other microorganisms, proteins, or other agents that cause a disease.
Related links
Infectious diseases - Pathological
A negative condition related to a disease or caused by a disease.
- Patient Information Leaflet (PIL)
A leaflet inserted in a drug package to inform the patient about the drug's approved indication and administration, and possible side effects.
- Peptide hormone
A hormone formed as a peptide, which is a linear molecule of one or more linked amino acids. They are secreted into the blood, have signaling functions, and interact with cellular receptors.
Related links
Orexin system antagonism - Pharmacodynamics
The biochemical and physiological effects of drugs on the body, the mechanisms of drug action, and the relationship between drug concentration and effect.
Related links
Drug discovery process - Pharmacokinetics
The effect of the body on a drug after administration – how a drug is absorbed, distributed, metabolized and eliminated.
Related links
Drug discovery process - Pharmacology
A scientific discipline involving the study of the effects of drugs in a living organism, with the focus on the interaction and reaction of the drug in the body, mainly in regard to its therapeutic value.
Related links
Drug discovery process - Phase I
Clinical studies which are the first stage of testing in human subjects, normally performed with a small group of healthy volunteers. This phase includes trials designed to assess the safety, tolerability, pharmacokinetics, and pharmacodynamics of a drug.
Related links
Phase I - Phase II
Clinical studies performed with patients rather than healthy volunteers, early in the drug development process. While this phase continues to provide safety data as the number of people receiving the drug increases, the focus of these studies is the efficacy of the drug, proof of the hypothesis of how the drug works, and determining the appropriate dose/s for larger trials.
Related links
Phase II - Phase III
Large clinical studies intended to be the definitive assessment of the drug under investigation, providing additional safety data, confirming efficacy, and providing comparative data where an approved therapy for the indication under investigation is already available.
Related links
Phase III
Clinical trials - Phase IV
Clinical studies conducted after a drug has received marketing approval, normally intended to collect data on long-term safety and efficacy for approved compounds, or to provide technical support for an approved therapy.
Related links
Phase IV
Clinical trials - Platelet
A cell that helps blood to clot; bruising and bleeding may occur more easily when the platelet count is low.
- Platform of expertise
Actelion's drug discovery core capabilities: enzymes, new chemical entities, ion channels, G-protein coupled receptors and anti-infectives.
Related links
Platform approach - Portal hypertension
An increase in blood pressure in the portal vein leading to the liver, caused either by a disease such as cirrhosis, or by blood vessel blockage.
- Preclinical studies / development
Studies required by drug development regulations to be conducted in animals to evaluate a candidate drug’s effects.
Related links
Drug discovery process - Prodrug
An inactive substance that undergoes a metabolic process in the digestive tract and is thereby changed into an active drug. A prodrug is used when the active ingredient is too unstable to be used as a drug by itself.
- Prostacyclin
A natural chemical produced by the cells of blood vessels. Prostacyclin is a member of the prostaglandin group of lipid molecules.
Prostacyclin exerts protective effects in the cardiovascular system, including vasodilatation and inhibits platelet aggregation and cell growth.Related links
Prostacyclin system - Prostacyclin receptor agonist
A compound that selectively activates prostacyclin receptors (IP receptors). Effects include vasodilatation, and inhibition of platelet aggregation and cell growth.
Related links
Prostacyclin system - Prostaglandin
A natural chemical produced by cells throughout the body. Prostaglandin exerts a broad range of physiological functions, including regulation of cardiovascular, reproductive, and inflammatory processes.
Related links
Prostacyclin system - Proteases
Enzymes in an organism, which break down proteins and peptides, through the hydrolysis of peptide bonds.
The term protease describes proteinases, which cleave peptide bonds within the peptide, as well as exo-peptidases, which take one or two residues off the ends of a peptide.Related links
Enzymes - Proteinases
- Pulmonary arterial hypertension (PAH)
Pulmonary arterial hypertension (PAH) is a life-threatening disease of the arteries connecting the lungs to the heart (the pulmonary arteries). As PAH develops, blood flow through the pulmonary arteries is restricted. The right side of the heart is put under increasing strain to pump blood through to the lungs, and this causes the right side of the heart to become enlarged. This process leads to the main symptoms of PAH – breathlessness, chest tightness, limited exercise capacity, and fatigue.
Related links
Pulmonary arterial hypertension (PAH) - Pulmonary artery
The vessel carrying blood from the heart to the lung.
- Pulmonary edema
Build-up of fluid in the lung, for example in the case of chronic heart failure.
- Quick eye movements
A neurological symptom in type 2 or type 3 Gaucher disease, characterized by quick, simultaneous movements of both eyes in the same direction.
- R&D
Research and development
- Receptor
Initiates signaling between and within cells, and has a molecular structure in which a ligand, such as a hormone, can bind. The binding of a ligand to the receptor initiates a change in cell function, which leads to a secondary event, such as cell signaling, vasoconstriction, or release of hormones.
Related links
G-Protein coupled receptors - Renin
A key enzyme produced in the kidney, which serves as gatekeeper to the biochemical cascade that ultimately results in production of the hormone angiotensin II. Under normal conditions, the kidney controls blood volume, blood pressure, and the electrolyte composition of body fluids, through the tightly regulated production of renin.
Related links
Renin inhibition - S1P1 receptor agonist
In autoimmune diseases, cells of the immune system (lymphocytes) aberrantly attack the body’s own tissues, e.g. nerve cells or skin.
As a receptor agonist, S1P1 prevents the lymphocytes from moving into the lymphatic and vascular circulation and thus prevents the mis-reaction of the immune system.Related links
S1P1 agonism - Scleroderma
A chronic autoimmune disease of the connective tissues. Patients with scleroderma develop a blood vessel abnormality and degenerative changes in joints, skin, and other organs.
Related links
Endothelin system - Secondary pulmonary arterial hypertension
Linked to the following complications or disease conditions: use of appetite suppressants, scleroderma, HIV/AIDS infection, and portal hypertension.
See also pulmonary arterial hypertension
Related links
Pulmonary arterial hypertension (PAH) - Spasticity
Also called muscular hypertonicity. A neurological symptom in type 2 or type 3 Gaucher disease. Spasticity is a disorder of the body motor system, and especially of the central nervous system (CNS), in which certain muscles are continuously contracted. This contraction causes stiffness or tightness of the muscles, and may interfere with gait, movement, and speech.
Related links
Type 1 Gaucher disease (GD1) - SpleenThe organ that filters and stores blood and destroys abnormal red blood cells.
Related links
Type 1 Gaucher disease (GD1) - Substrate
The substance on which an enzyme acts in a biochemical reaction. The enzyme binds to the substrate, forming an enzyme-substrate complex. After the substrate is broken down into a product, it is released from the enzyme.
Related links
Genetic disorders - Substrate reduction therapy (SRT)
An oral therapy for type 1 Gaucher disease, which reduces the amount of substrate made in the body. Hence, in conditions such as type 1 Gaucher disease, where the catabolism or enzymatic breakdown of the naturally-occurring substrate is impaired, there is less substrate for the defective enzyme to break down.
Related links
Type 1 Gaucher disease (GD1) - Summary of Product Characteristics (SmPC)
The regulatory approved information about the composition, pharmaceutical form, clinical particulars, pharmacological properties, pharmaceutical particulars and details about the marketing authorization of a product in the European Union.
- Supranuclear gaze palsy
A neurological symptom in type 2 or type 3 Gaucher disease. It is an eye movement abnormality in which the two eyes move together but have limited movement in one direction.
Related links
Type 1 Gaucher disease (GD1) - Toxicology
A scientific discipline involving the study of adverse effects of substances on living organisms, including the effects of very high concentrations of substances, which, at normal concentrations, may have therapeutic benefits.
Related links
Development process - Type 1 Gaucher disease
A genetic metabolic disorder in which a fatty substance accumulates in the body, especially in the spleen, liver, lungs, and bone marrow. The disorder is characterized by bruising, fatigue, anemia, low count of blood platelets, and enlargement of the liver and spleen.
Related links
Type 1 Gaucher disease (GD1) - Vascular smooth muscle cells
The cells located mainly in the middle wall-layer (tunica media) of blood vessels, controlling the dilation and constriction of blood vessels. ETA and ETB receptors are present on these cells.
Related links
Prostacyclin system - Vasoconstriction
Constriction or narrowing of the blood vessels that leads to, or aggravates, an increase of pressure in a given vessel.
Related links
Cardiovascular disorders - Vasospasm
Sudden contraction of the muscular walls of the blood vessels, with a resultant reduction in blood flow. Vasospasm may rise as a consequence of aneurysmal subarachnoid hemorrhage.
Related links
Cardiovascular disorders - Ventricles (heart ventricles)
The two lower or principal pumping chambers of the heart.
- White blood cells
Also called leukocytes. Cells of the immune system which defend the body against both infectious diseases and foreign materials.
Related links
Allergy - WHO
The World Health Organization (WHO) is the United Nations agency focusing on worldwide and regional health issues.
- WHO functional classification of PAH (WHO FC)
The classification of patients with pulmonary arterial hypertension into one of four groups, depending on severity:
• Functional Class I – Patients without resulting limitation of physical activity
• Functional Class II – Patients with slight limitation of physical activity
• Functional Class III – Patients with a marked limitation of physical activity
• Functional Class IV – Patients with the inability to carry out any physical activity without symptomsRelated links
Pulmonary arterial hypertension (PAH)
