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Fabry disease, the Glossary

Fabry disease, also known as Anderson–Fabry disease, is a rare genetic disease that can affect many parts of the body, including the kidneys, heart, brain, and skin.^[1]

100 relations: Amicus Therapeutics, Analgesic, Angiokeratoma, Anticonvulsant, Aortic stenosis, Aortic valve, Arrhythmia, Artificial cardiac pacemaker, Asymptomatic, Biomolecule, Blood test, Blood vessel, Brain, Cardiac arrest, Cardiac conduction system, Cardiac muscle, Cataract, Chronic kidney disease, Codexis, Committee for Medicinal Products for Human Use, Cornea verticillata, Corneal dystrophy, Crossing Jordan, Dermatology, Diuretic, Doctor John (TV series), Enzyme, Enzyme replacement therapy, European Medicines Agency, Fatigue, Food and Drug Administration, Gene therapy, Genetic disorder, Genetic testing, Genotyping, GLA (gene), Globotriaosylceramide, Glycolipid, Glycosphingolipid, Heart, Heart failure, Heart valve, Hemodialysis, House (TV series), House season 6, Hyperhidrosis, Hypertrophic cardiomyopathy, Hypertrophy, Hypohidrosis, Implantable cardioverter-defibrillator, ... Expand index (50 more) »
Cardiogenetic disorders
Lipid storage disorders
Lysosomal storage diseases

Amicus Therapeutics

Amicus Therapeutics, Inc. is a public American biopharmaceutical company based in Philadelphia, PA. The company went public in 2007 under the NASDAQ trading symbol FOLD.

See Fabry disease and Amicus Therapeutics

Analgesic

An analgesic drug, also called simply an analgesic, antalgic, pain reliever, or painkiller, is any member of the group of drugs used for pain management.

See Fabry disease and Analgesic

Angiokeratoma

Angiokeratoma is a benign cutaneous lesion of capillaries, resulting in small marks of red to blue color and characterized by hyperkeratosis.

See Fabry disease and Angiokeratoma

Anticonvulsant

Anticonvulsants (also known as antiepileptic drugs, antiseizure drugs, or anti-seizure medications (ASM)) are a diverse group of pharmacological agents used in the treatment of epileptic seizures.

See Fabry disease and Anticonvulsant

Aortic stenosis

Aortic stenosis (AS or AoS) is the narrowing of the exit of the left ventricle of the heart (where the aorta begins), such that problems result.

See Fabry disease and Aortic stenosis

Aortic valve

The aortic valve is a valve in the heart of humans and most other animals, located between the left ventricle and the aorta.

See Fabry disease and Aortic valve

Arrhythmia

Arrhythmias, also known as cardiac arrhythmias, are irregularities in the heartbeat, including when it is too fast or too slow.

See Fabry disease and Arrhythmia

An artificial cardiac pacemaker, commonly referred to as simply a pacemaker, is an implanted medical device that generates electrical pulses delivered by electrodes to one or more of the chambers of the heart.

See Fabry disease and Artificial cardiac pacemaker

Asymptomatic

Asymptomatic (or clinically silent) is an adjective categorising the medical conditions (i.e., injuries or diseases) that patients carry but without experiencing their symptoms, despite an explicit diagnosis (e.g., a positive medical test).

See Fabry disease and Asymptomatic

Biomolecule

A biomolecule or biological molecule is loosely defined as a molecule produced by a living organism and essential to one or more typically biological processes.

See Fabry disease and Biomolecule

Blood test

A blood test is a laboratory analysis performed on a blood sample that is usually extracted from a vein in the arm using a hypodermic needle, or via fingerprick.

See Fabry disease and Blood test

Blood vessel

Blood vessels are the structures of the circulatory system that transport blood throughout the human body.

See Fabry disease and Blood vessel

Brain

The brain is an organ that serves as the center of the nervous system in all vertebrate and most invertebrate animals.

See Fabry disease and Brain

Cardiac arrest

Cardiac arrest, also known as sudden cardiac arrest, is when the heart suddenly and unexpectedly stops beating.

See Fabry disease and Cardiac arrest

Cardiac conduction system

The cardiac conduction system (CCS, also called the electrical conduction system of the heart) transmits the signals generated by the sinoatrial node – the heart's pacemaker, to cause the heart muscle to contract, and pump blood through the body's circulatory system.

See Fabry disease and Cardiac conduction system

Cardiac muscle

Cardiac muscle (also called heart muscle or myocardium) is one of three types of vertebrate muscle tissues, with the other two being skeletal muscle and smooth muscle.

See Fabry disease and Cardiac muscle

Cataract

A cataract is a cloudy area in the lens of the eye that leads to a decrease in vision of the eye.

See Fabry disease and Cataract

Chronic kidney disease

Chronic kidney disease (CKD) is a type of long-term kidney disease, in which either there is a gradual loss of kidney function occurs over a period of months to years, or abnormal kidney structure (with normal function).

See Fabry disease and Chronic kidney disease

Codexis

Codexis, Inc. is a protein engineering company that develops enzymes for pharmaceutical, food and medical applications.

See Fabry disease and Codexis

Committee for Medicinal Products for Human Use

The Committee for Medicinal Products for Human Use (CHMP), formerly known as the Committee for Proprietary Medicinal Products (CPMP), is the European Medicines Agency's committee responsible for elaborating the agency's opinions on all issues regarding medicinal products for human use.

See Fabry disease and Committee for Medicinal Products for Human Use

Cornea verticillata

Cornea verticillata, also called vortex keratopathy or whorl keratopathy, is a condition characterised by corneal deposits at the level of the basal epithelium forming a faint golden-brown whorl pattern.

See Fabry disease and Cornea verticillata

Corneal dystrophy

Corneal dystrophy is a group of rare hereditary disorders characterised by bilateral abnormal deposition of substances in the transparent front part of the eye called the cornea.

See Fabry disease and Corneal dystrophy

Crossing Jordan

Crossing Jordan is an American crime drama television series created by Tim Kring, that aired on NBC from September 24, 2001, to May 16, 2007.

See Fabry disease and Crossing Jordan

Dermatology

Dermatology is the branch of medicine dealing with the skin.

See Fabry disease and Dermatology

Diuretic

A diuretic is any substance that promotes diuresis, the increased production of urine.

See Fabry disease and Diuretic

Doctor John (TV series)

Doctor John is a 2019 South Korean television series starring Ji Sung, Lee Se-young, Lee Kyu-hyung, and Hwang Hee.

See Fabry disease and Doctor John (TV series)

Enzyme

Enzymes are proteins that act as biological catalysts by accelerating chemical reactions.

See Fabry disease and Enzyme

Enzyme replacement therapy

Enzyme replacement therapy (ERT) is a medical treatment which replaces an enzyme that is deficient or absent in the body.

See Fabry disease and Enzyme replacement therapy

European Medicines Agency

The European Medicines Agency (EMA) is an agency of the European Union (EU) in charge of the evaluation and supervision of pharmaceutical products.

See Fabry disease and European Medicines Agency

Fatigue

Fatigue describes a state of tiredness (which is not sleepiness), exhaustion or loss of energy.

See Fabry disease and Fatigue

Food and Drug Administration

The United States Food and Drug Administration (FDA or US FDA) is a federal agency of the Department of Health and Human Services.

See Fabry disease and Food and Drug Administration

Gene therapy

Gene therapy is a medical technology that aims to produce a therapeutic effect through the manipulation of gene expression or through altering the biological properties of living cells.

See Fabry disease and Gene therapy

Genetic disorder

A genetic disorder is a health problem caused by one or more abnormalities in the genome.

See Fabry disease and Genetic disorder

Genetic testing

Genetic testing, also known as DNA testing, is used to identify changes in DNA sequence or chromosome structure.

See Fabry disease and Genetic testing

Genotyping

Genotyping is the process of determining differences in the genetic make-up (genotype) of an individual by examining the individual's DNA sequence using biological assays and comparing it to another individual's sequence or a reference sequence.

See Fabry disease and Genotyping

GLA (gene)

Galactosidase alpha is an enzyme that in humans is encoded by the GLA gene.

See Fabry disease and GLA (gene)

Globotriaosylceramide

Globotriaosylceramide is a globoside.

See Fabry disease and Globotriaosylceramide

Glycolipid

Glycolipids are lipids with a carbohydrate attached by a glycosidic (covalent) bond.

See Fabry disease and Glycolipid

Glycosphingolipid

Glycosphingolipids are a subtype of glycolipids containing the amino alcohol sphingosine.

See Fabry disease and Glycosphingolipid

Heart

The heart is a muscular organ found in most animals.

See Fabry disease and Heart

Heart failure

Heart failure (HF), also known as congestive heart failure (CHF), is a syndrome caused by an impairment in the heart's ability to fill with and pump blood.

See Fabry disease and Heart failure

Heart valve

A heart valve is a biological one-way valve that allows blood to flow in one direction through the chambers of the heart.

See Fabry disease and Heart valve

Hemodialysis

Hemodialysis, also spelled haemodialysis, or simply dialysis, is a process of filtering the blood of a person whose kidneys are not working normally.

See Fabry disease and Hemodialysis

House (TV series)

House (also called House, M.D.) is an American medical drama television series that originally ran on the Fox network for eight seasons, from November 16, 2004, to May 21, 2012.

See Fabry disease and House (TV series)

House season 6

The sixth season of House premiered on September 21, 2009, with a two-hour premiere filmed at the Greystone Park Psychiatric Hospital in New Jersey.

See Fabry disease and House season 6

Hyperhidrosis

Hyperhidrosis is a medical condition in which a person exhibits excessive sweating, more than that required for regulation of body temperature.

See Fabry disease and Hyperhidrosis

Hypertrophic cardiomyopathy

Hypertrophic cardiomyopathy (HCM, or HOCM when obstructive) is a condition in which muscle tissues of the heart become thickened without an obvious cause. Fabry disease and Hypertrophic cardiomyopathy are Cardiogenetic disorders.

See Fabry disease and Hypertrophic cardiomyopathy

Hypertrophy

Hypertrophy is the increase in the volume of an organ or tissue due to the enlargement of its component cells.

See Fabry disease and Hypertrophy

Hypohidrosis

Hypohidrosis is a medical condition in which a person exhibits diminished sweating in response to appropriate stimuli.

See Fabry disease and Hypohidrosis

Implantable cardioverter-defibrillator

An implantable cardioverter-defibrillator (ICD) or automated implantable cardioverter defibrillator (AICD) is a device implantable inside the body, able to perform defibrillation, and depending on the type, cardioversion and pacing of the heart.

See Fabry disease and Implantable cardioverter-defibrillator

Integumentary system

The integumentary system is the set of organs forming the outermost layer of an animal's body.

See Fabry disease and Integumentary system

Intravenous therapy

Intravenous therapy (abbreviated as IV therapy) is a medical technique that administers fluids, medications and nutrients directly into a person's vein.

See Fabry disease and Intravenous therapy

Α-Galactosidase

α-Galactosidase (EC 3.2.1.22, α-GAL, α-GAL A; systematic name α-D-galactoside galactohydrolase) is a glycoside hydrolase enzyme that catalyses the following reaction: It catalyzes many catabolic processes, including cleavage of glycoproteins, glycolipids, and polysaccharides.

See Fabry disease and Α-Galactosidase

Johannes Fabry

Johannes Fabry (1 June 1860, in Jülich – 29 June 1930, in Dortmund) was a German dermatologist.

See Fabry disease and Johannes Fabry

Ken Hashimoto

was a Japanese professor of dermatology resident in the United States, who pioneered research in skin disease using electron microscopy and histochemistry.

See Fabry disease and Ken Hashimoto

Kidney

In humans, the kidneys are two reddish-brown bean-shaped blood-filtering organs that are a multilobar, multipapillary form of mammalian kidneys, usually without signs of external lobulation.

See Fabry disease and Kidney

Kidney failure

Kidney failure, also known as end-stage renal disease (ESRD), is a medical condition in which the kidneys can no longer adequately filter waste products from the blood, functioning at less than 15% of normal levels. Kidney failure is classified as either acute kidney failure, which develops rapidly and may resolve; and chronic kidney failure, which develops slowly and can often be irreversible.

See Fabry disease and Kidney failure

Life expectancy

Human life expectancy is a statistical measure of the estimate of the average remaining years of life at a given age.

See Fabry disease and Life expectancy

Lincoln Rhyme: Hunt for the Bone Collector

Lincoln Rhyme: Hunt for the Bone Collector is an American crime drama television series that premiered on NBC as part of the 2019–20 television season, on January 10, 2020 and ran until March 13, 2020.

See Fabry disease and Lincoln Rhyme: Hunt for the Bone Collector

Lysosomal storage disease

Lysosomal storage diseases (LSDs) are a group of over 70 rare inherited metabolic disorders that result from defects in lysosomal function. Fabry disease and lysosomal storage disease are lysosomal storage diseases and x-linked recessive disorders.

See Fabry disease and Lysosomal storage disease

Lysosome

A lysosome is a single membrane-bound organelle found in many animal cells. Fabry disease and lysosome are lysosomal storage diseases.

See Fabry disease and Lysosome

Migalastat

Migalastat, sold under the brand name Galafold, is a medication for the treatment of Fabry disease, a rare genetic disorder. It was developed by Amicus Therapeutics. The US Food and Drug Administration (FDA) granted it orphan drug status in 2004, and the European Commission followed in 2006. The European Medicines Agency's Committee for Medicinal Products for Human Use (CHMP) granted the drug a marketing approval under the name Galafold in May 2016.

See Fabry disease and Migalastat

Mitral regurgitation

Mitral regurgitation (MR), also known as mitral insufficiency or mitral incompetence, is a form of valvular heart disease in which the mitral valve is insufficient and does not close properly when the heart pumps out blood.

See Fabry disease and Mitral regurgitation

Mitral valve

The mitral valve, also known as the bicuspid valve or left atrioventricular valve, is one of the four heart valves.

See Fabry disease and Mitral valve

Mutation

In biology, a mutation is an alteration in the nucleic acid sequence of the genome of an organism, virus, or extrachromosomal DNA.

See Fabry disease and Mutation

National Institute of Neurological Disorders and Stroke

The National Institute of Neurological Disorders and Stroke (NINDS) is a part of the U.S. National Institutes of Health (NIH).

See Fabry disease and National Institute of Neurological Disorders and Stroke

Nonsteroidal anti-inflammatory drug

Non-steroidal anti-inflammatory drugs (NSAID) are members of a therapeutic drug class which reduces pain, decreases inflammation, decreases fever, and prevents blood clots.

See Fabry disease and Nonsteroidal anti-inflammatory drug

Orphan drug

An orphan drug is a pharmaceutical agent that is developed to treat certain rare medical conditions. Fabry disease and orphan drug are rare diseases.

See Fabry disease and Orphan drug

Palpitations

Palpitations are perceived abnormalities of the heartbeat characterized by awareness of cardiac muscle contractions in the chest, which is further characterized by the hard, fast and/or irregular beatings of the heart.

See Fabry disease and Palpitations

Panethnicity

Panethnicity is a political neologism used to group various ethnic groups together based on their related cultural origins; geographic, linguistic, religious, or 'racial' (i.e. phenotypic) similarities are often used alone or in combination to draw panethnic boundaries.

See Fabry disease and Panethnicity

Papule

A papule is a small, well-defined bump in the skin.

See Fabry disease and Papule

Paresthesia

Paresthesia is an abnormal sensation of the skin (tingling, pricking, chilling, burning, numbness) with no apparent physical cause.

See Fabry disease and Paresthesia

Partners for Justice

Partners for Justice is a 2018 South Korean television series starring Jung Jae-young and Jeong Yu-mi.

See Fabry disease and Partners for Justice

Pegunigalsidase alfa

Pegunigalsidase alfa, sold under the brand name Elfabrio, is an enzyme replacement therapy for the treatment of Fabry disease.

See Fabry disease and Pegunigalsidase alfa

Peripheral neuropathy

Peripheral neuropathy, often shortened to neuropathy, refers to damage or disease affecting the nerves.

See Fabry disease and Peripheral neuropathy

Pharmacological chaperone

A pharmacological chaperone or pharmacoperone is a drug that acts as a protein chaperone.

See Fabry disease and Pharmacological chaperone

Protein folding

Protein folding is the physical process by which a protein, after synthesis by a ribosome as a linear chain of amino acids, changes from an unstable random coil into a more ordered three-dimensional structure.

See Fabry disease and Protein folding

Proteinuria

Proteinuria is the presence of excess proteins in the urine.

See Fabry disease and Proteinuria

Randomized experiment

In science, randomized experiments are the experiments that allow the greatest reliability and validity of statistical estimates of treatment effects.

See Fabry disease and Randomized experiment

Raynaud syndrome

Raynaud syndrome, also known as Raynaud's phenomenon, is a medical condition in which the spasm of small arteries causes episodes of reduced blood flow to end arterioles.

See Fabry disease and Raynaud syndrome

Restrictive cardiomyopathy

Restrictive cardiomyopathy (RCM) is a form of cardiomyopathy in which the walls of the heart are rigid (but not thickened).

See Fabry disease and Restrictive cardiomyopathy

Sangamo Therapeutics

Sangamo Therapeutics, Inc. (previously known as Sangamo Biosciences, Inc.) is an American biotechnology company based in Brisbane, California.

See Fabry disease and Sangamo Therapeutics

Sanofi

Sanofi S.A. is a French multinational pharmaceutical and healthcare company headquartered in Paris, France.

See Fabry disease and Sanofi

Scrubs (TV series)

Scrubs (stylized as) is an American medical sitcom created by Bill Lawrence that aired from October 2, 2001, to March 17, 2010, on NBC and later ABC.

See Fabry disease and Scrubs (TV series)

Sex linkage

Sex linked describes the sex-specific reading patterns of inheritance and presentation when a gene mutation (allele) is present on a sex chromosome (allosome) rather than a non-sex chromosome (autosome).

See Fabry disease and Sex linkage

Shire (pharmaceutical company)

Shire plc was a UK-founded Jersey-registered specialty biopharmaceutical company.

See Fabry disease and Shire (pharmaceutical company)

Shortness of breath

Shortness of breath (SOB), known as dyspnea (in AmE) or dyspnoea (in BrE), is an uncomfortable feeling of not being able to breathe well enough.

See Fabry disease and Shortness of breath

Sphingolipid

Sphingolipids are a class of lipids containing a backbone of sphingoid bases, which are a set of aliphatic amino alcohols that includes sphingosine.

See Fabry disease and Sphingolipid

Takeda Pharmaceutical Company

The is a Japanese multinational pharmaceutical company.

See Fabry disease and Takeda Pharmaceutical Company

The International League of Dermatological Societies

The International League of Dermatological Societies (ILDS) is a non-governmental organization that works closely with the World Health Organization.

See Fabry disease and The International League of Dermatological Societies

Third-degree atrioventricular block

Third-degree atrioventricular block (AV block) is a medical condition in which the electrical impulse generated in the sinoatrial node (SA node) in the atrium of the heart can not propagate to the ventricles.

See Fabry disease and Third-degree atrioventricular block

Tinnitus

Tinnitus is a variety of sound that is heard when no corresponding external sound is present.

See Fabry disease and Tinnitus

Tricuspid valve

The tricuspid valve, or right atrioventricular valve, is on the right dorsal side of the mammalian heart, at the superior portion of the right ventricle.

See Fabry disease and Tricuspid valve

United States National Library of Medicine

The United States National Library of Medicine (NLM), operated by the United States federal government, is the world's largest medical library.

See Fabry disease and United States National Library of Medicine

Ventricular tachycardia

Ventricular tachycardia (V-tach or VT) is a cardiovascular disorder in which fast heart rate occurs in the ventricles of the heart.

See Fabry disease and Ventricular tachycardia

Vertigo

Vertigo is a condition in which a person has the sensation that they are moving, or that objects around them are moving, when they are not.

See Fabry disease and Vertigo

White blood cell

White blood cells (scientific name leukocytes), also called immune cells or immunocytes, are cells of the immune system that are involved in protecting the body against both infectious disease and foreign invaders.

See Fabry disease and White blood cell

William Anderson (collector)

William Anderson FRCS (18 December 1842 – 27 October 1900) was an English surgeon born in Shoreditch, London.

See Fabry disease and William Anderson (collector)

X-inactivation

X-inactivation (also called Lyonization, after English geneticist Mary Lyon) is a process by which one of the copies of the X chromosome is inactivated in therian female mammals.

See Fabry disease and X-inactivation

Zygosity

Zygosity (the noun, zygote, is from the Greek "yoked," from "yoke") is the degree to which both copies of a chromosome or gene have the same genetic sequence.

See Fabry disease and Zygosity

References

[1] https://en.wikipedia.org/wiki/Fabry_disease

Also known as Alpha-galactosidase A deficiency, Anderson-Fabry disease, Anderson-Fabry's Disease, Angiokeratoma Corporis Diffusum, Angiokeratoma corporis diffusum of Fabry, Angiokeratoma corporis diffusum universale, Angiokeratoma diffuse, Anglokeratoma corporis diffusum universale, Ceramide trihexosidase deficiency, Ceramide trihexosidosis, Diffuse angiokeratoma, Diffuse angiokeratosis, Diffuse anglokeratoma, Fabray's disease, Fabrey's disease, Fabry's Disease, Fabrys disease.

, Integumentary system, Intravenous therapy, Α-Galactosidase, Johannes Fabry, Ken Hashimoto, Kidney, Kidney failure, Life expectancy, Lincoln Rhyme: Hunt for the Bone Collector, Lysosomal storage disease, Lysosome, Migalastat, Mitral regurgitation, Mitral valve, Mutation, National Institute of Neurological Disorders and Stroke, Nonsteroidal anti-inflammatory drug, Orphan drug, Palpitations, Panethnicity, Papule, Paresthesia, Partners for Justice, Pegunigalsidase alfa, Peripheral neuropathy, Pharmacological chaperone, Protein folding, Proteinuria, Randomized experiment, Raynaud syndrome, Restrictive cardiomyopathy, Sangamo Therapeutics, Sanofi, Scrubs (TV series), Sex linkage, Shire (pharmaceutical company), Shortness of breath, Sphingolipid, Takeda Pharmaceutical Company, The International League of Dermatological Societies, Third-degree atrioventricular block, Tinnitus, Tricuspid valve, United States National Library of Medicine, Ventricular tachycardia, Vertigo, White blood cell, William Anderson (collector), X-inactivation, Zygosity.

Fabry disease, the Glossary

Table of Contents

See also

Cardiogenetic disorders

Lipid storage disorders

Lysosomal storage diseases

References