Below are a list of terms that can help you better understand autoimmune polyglandular syndrome, type 1.

As

ADRENAL GLANDS
Synonym(s): suprarenal glandPaired glands situated in the retroperitoneal tissues at the superior pole of each kidney. (Definition from: MeSH via Unified Medical Language System)

A pair of small glands, one located on top of each kidney. They produce steroid hormones, adrenaline and noradrenaline, which help control control heart rate, blood pressure, and other important body functions. (Definition from: Physician Data Query via Unified Medical Language System)

AUTOIMMUNE
Of, relating to, or caused by antibodies or T cells that attack molecules, cells, or tissues of the organism producing them (autoimmune diseases).

AUTOIMMUNITY
Process whereby the immune system reacts against the body’s own tissues. Autoimmunity may produce or be caused by autoimmune diseases. (Definition from: MeSH via Unified Medical Language System)

A condition in which the body produces an immune response against its own tissue constituents. (Definition from: Merriam-Webster’s Medical Dictionary)

AUTOSOMAL
Refers to any of the chromosomes other than the sex-determining chromosomes (i.e., the X and Y) or the genes on these chromosomes (Definition from: GeneReviews)

AUTOSOMAL RECESSIVE
Describes a trait or disorder requiring the presence of two copies of a gene mutation at a particular locus in order to express observable phenotype; specifically refers to genes on one of the 22 pairs of autosomes (non-sex chromosomes). (Definition from: GeneReviews)

Bs

Bacteria
Bacteria are small single-celled organisms. Bacteria are found almost everywhere on Earth and are vital to the planet’s ecosystems. Some species can live under extreme conditions of temperature and pressure. The human body is full of bacteria, and in fact is estimated to contain more bacterial cells than human cells. Most bacteria in the body are harmless, and some are even helpful. A relatively small number of species cause disease. (Definition from: Talking Glossary of Genetic Terms)

A large group of single-cell microorganisms.Some cause infections and disease in animals and humans. The singular of bacteria is bacterium. (Definition from: National Cancer Institute dictionary)

Cs

CALCIUM
A basic element found in nearly all organized tissues. It is a member of the alkaline earth family of metals with the atomic symbol Ca, atomic number 20, and atomic weight 40. Calcium is the most abundant mineral in the body and combines with phosphorus to form calcium phosphate in the bones and teeth. It is essential for the normal functioning of nerves and muscles and plays a role in blood coagulation (as factor IV) and in many enzymatic processes. (Definition from: MeSH via Unified Medical Language System)

A silver-white bivalent metallic element that is an alkaline earth metal, occurs only in combination, and is an essential constituent of most plants and animals — symbol Ca. (Definition from: Merriam-Webster’s Medical Dictionary)

CANDIDIASIS
Infection with a fungus of the genus Candida. It is usually a superficial infection of the moist areas of the body and is generally caused by Candida albicans. (Definition from: MeSH via Unified Medical Language System)

A condition in which Candida albicans, a type of yeast, grows out of control in moist skin areas of the body. It is usually a result of a weakened immune system, but can be a side effect of chemotherapy or treatment with antibiotics. Thrush usually affects the mouth (oral thrush); however, rarely, it spreads throughout the entire body. (Definition from: NCI Thesaurus via Unified Medical Language System)

CELL
The smallest units of living structure capable of independent existence, composed of a membrane-enclosed mass of protoplasm and containing a nucleus or nucleoid. Cells are highly variable and specialized in both structure and function, though all must at some stage replicate proteins and nucleic acids, utilize energy, and reproduce themselves. (Definition from: NCI Thesaurus via Unified Medical Language System)

A cell is the basic building block of living things. All cells can be sorted into one of two groups: eukaryotes and prokaryotes. A eukaryote has a nucleus and membrane-bound organelles, while a prokaryote does not. Plants and animals are made of numerous eukaryotic cells, while many microbes, such as bacteria, consist of single cells. An adult human body is estimated to contain between 10 and 100 trillion cells.(Definition from: Talking Glossary of Genetic Terms)

Ds

Deficiency
In medicine, a shortage of a substance needed by the body. (Definition from: National Cancer Institute dictionary)

Diabetes
Synonym(s): diabetes mellitus & unspecified diabetes mellitus

A disease in which the body does not properly control the amount of sugar in the blood. As a result, the level of sugar in the blood is too high. This disease occurs when the body does not produce enough insulin or does not use it properly. (Definition from: National Cancer Institute dictionary)

Diabetes mellitus is a disease characterized by an inability to make or use the hormone insulin. Insulin is needed by cells to metabolize glucose, the body’s main source of chemical energy. Type I diabetes, also called insulin-dependent diabetes mellitus, is usually caused by an autoimmune destruction of insulin-producing cells. Type II diabetes, also called non-insulin-dependent diabetes mellitus, occurs when cells become resistant to the effects of insulin. (Definition from: Talking Glossary of Genetic Terms)

Digestive
1: Relating to or functioning in digestion (digestive processes). 2: Having the power to cause or promote digestion (digestive enzymes). (Definition from: Merriam-Webster’s Medical Dictionary)

Digestive system
Synonym(s): alimentary system
Encompasses the mouth, esophagus, stomach, intestines, biliary tract, pancreas, liver, and associated hormones and secretions. (Definition from: CRISP Thesaurus via Unified Medical Language System)

The organs that take in food and turn it into products that the body can use to stay healthy. Waste products the body cannot use leave the body through bowel movements. The digestive system includes the salivary glands, mouth, esophagus, stomach, liver, pancreas, gallbladder, small and large intestines, and rectum. (Definition from: National Cancer Institute dictionary)

Gs

Gene
The functional and physical unit of heredity passed from parent to offspring. Genes are pieces of DNA, and most genes contain the information for making a specific protein. (Definition from: Physician Data Query via Unified Medical Language System)

The basic unit of heredity, consisting of a segment of DNA arranged in a linear manner along a chromosome, which codes for a specific protein or segment of protein leading to a particular characteristic or function (Definition from: GeneReviews)

The gene is the basic physical unit of inheritance. Genes are passed from parents to offspring and contain the information needed to specify traits. Genes are arranged, one after another, on structures called chromosomes. A chromosome contains a single, long DNA molecule, only a portion of which corresponds to a single gene. Humans have approximately 23,000 genes arranged on their chromosomes. (Definition from: Talking Glossary of Genetic Terms)

The fundamental physical and functional unit of heredity. A gene is an ordered sequence of nucleotides located in a particular position on a particular chromosome that encodes a specific functional product (i.e., a protein or RNA molecule). (Definition from: Human Genome Project Information)

Hs

Hormone
Synonym(s): internal secretion

Chemicals produced by glands in the body and circulated in the bloodstream. Hormones control the actions of certain cells or organs. (Definition from: Physician Data Query via Unified Medical Language System)

Hypoparathyroidism
Synonym(s): deficiency of parathyrin, deficiency of parathyroid hormone & deficiency of PTH

Deficiency of parathyroid hormone in the body; also : the resultant abnormal state marked by low serum calcium and a tendency to chronic tetany. (Definition from: Merriam-Webster’s Medical Dictionary)

Is

Immune system
The body’s defense mechanism against foreign organisms or substances and deviant native cells. It includes the humoral immune response and the cell-mediated response and consists of a complex of interrelated cellular, molecular, and genetic components. (Definition from: MeSH via Unified Medical Language System)

The complex group of organs and cells that defends the body against infections and other diseases. (Definition from: National Cancer Institute dictionary)

Infection
General term for invasion and growth of microorganisms in bodily tissues. (Definition from: CRISP Thesaurus via Unified Medical Language System)

Invasion and multiplication of germs in the body. (Definition from: Physician Data Query via Unified Medical Language System)

Inflammation
A response of redness, swelling, pain, and a feeling of heat in certain areas that is meant to protect tissues affected by injury or disease. (Definition from: National Cancer Institute dictionary)

Hereditary
Synonym(s): heritable, inherit & inherited

Transmitted from parent to child by information contained in the genes. (Definition from: NCI via Unified Medical Language System)

Transmitted through genes from parents to offspring. (Definition from: NCI via Unified Medical Language System)

Transmitted through genes that have been passed from parents to their offspring (children). (Definition from: NCI via Unified Medical Language System)

Ks

Kidney
Synonym(s): nephr(o)-, renal & ren(o)-

Body organ that filters blood for the secretion of urine and that regulates ion concentrations. (Definition from: CRISP Thesaurus via Unified Medical Language System)

Ms

Mucocutaneous
Made up of or involving both typical skin and mucous membrane. (Definition from: Merriam-Webster’s Medical Dictionary)

Mucus
Synonym(s): mucous
The viscous secretion of mucous membranes. It contains mucin, white blood cells, water, inorganic salts, and exfoliated cells. (Definition from: MeSH via Unified Medical Language System)

Viscous suspension of mucin, water, cells, and inorganic salts. (Definition from: CRISP Thesaurus via Unified Medical Language System)

Ps

Parathyroid
Synonym(s): parathyroid gland

Two small paired endocrine glands in the region of the thyroid gland. They secrete parathyroid hormone and are concerned with the metabolism of calcium and phosphorus. (Definition from: MeSH via Unified Medical Language System)

One of four pea-sized glands found on the thyroid. The parathyroid hormone produced by these glands increases the calcium level in the blood. (Definition from: National Cancer Institute dictionary)

Phosphorus
A nonmetallic element that is found in the blood, muscles, nerves, bones, and teeth and is a component of adenosine triphosphate (ATP; the primary energy source for the body’s cells). (Definition from: National Cancer Institute dictionary)

Protein
A molecule made up of amino acids that are needed for the body to function properly. Proteins are the basis of body structures such as skin and hair and of substances such as enzymes, cytokines, and antibodies. (Definition from: Physician Data Query via Unified Medical Language System)

A large molecule composed of one or more chains of amino acids in a specific order; the order is determined by the base sequence of nucleotides in the gene that codes for the protein. Proteins are required for the structure, function, and regulation of the body’s cells, tissues, and organs; and each protein has unique functions. Examples are hormones, enzymes, and antibodies. (Definition from: Human Genome Project Information)

Proteins are an important class of molecules found in all living cells. A protein is composed of one or more long chains of amino acids, the sequence of which corresponds to the DNA sequence of the gene that encodes it. Proteins play a variety of roles in the cell, including structural (cytoskeleton), mechanical (muscle), biochemical (enzymes), and cell signaling (hormones). Proteins are also an essential part of diet. (Definition from: Talking Glossary of Genetic Terms)

Rs

Recessive
A gene which will be expressed only if there are 2 identical copies or, for a male, if one copy is present on the X chromosome. (Definition from: Human Genome Project Information)

Recessive is a quality found in the relationship between two versions of a gene. Individuals receive one version of a gene, called an allele, from each parent. If the alleles are different, the dominant allele will be expressed, while the effect of the other allele, called recessive, is masked. In the case of a recessive genetic disorder, an individual must inherit two copies of the mutated allele in order for the disease to be present. (Definition from: Talking Glossary of Genetic Terms)

Ss

Syndrome
A set of symptoms or conditions that occur together and suggest the presence of a certain disease or an increased chance of developing the disease. (Definition from: National Cancer Institute dictionary)

The group or recognizable pattern of symptoms or abnormalities that indicate a particular trait or disease. (Definition from: Human Genome Project Information)

A group of signs and symptoms that occur together and characterize a particular abnormality. (Definition from: Merriam-Webster’s Medical Dictionary)

A syndrome is a collection of recognizable traits or abnormalities that tend to occur together and are associated with a specific disease. (Definition from: Talking Glossary of Genetic Terms)

Ts

Testis
Synonym(s): testes, testicles & testis (orchis)

The two egg-shaped glands found inside the scrotum. They produce sperm and male hormones. (Definition from: National Cancer Institute dictionary)

Thyroid
A gland located beneath the voice box (larynx) that produces thyroid hormone. The thyroid helps regulate growth and metabolism. (Definition from: National Cancer Institute dictionary)

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