|
| | |
BMPR1A
BMPR1A A gene located on chromosome 10 in band 10q22.3 that encodes bone morphogenic protein receptor 1A, a kinase receptor that is involved in bone morphogenetic protein (BMP) signaling. Mutations in BMPR1A account for 25% to 40% of cases of juvenile polyposis, an autosomal dominant gastrointestinal polyposis syndrome in which patients are at risk for developing gastrointestinal cancers.
RELATED TERMS--------------------------------------
Gene
1. A unit of DNA that carries information for the biosynthesis of a specific product in the cell. 2. Ultimate unit by which inheritable characteristics are transmitted to succeeding generations in all living organisms. Genes are contained by, and arranged along the length of, the chromosome. The gene is composed of deoxyribonucleic acid (DNA). Each chromosome of each species has a definite number and arrangement of genes, which govern both the structure and metabolic functions of the cells and thus of the entire organism.
Chromosome
A structural unit within a eukaryotic nucleus that carries genes. A chromosome consists of a long, continuous strand of DNA and associated proteins.
Bone
Bone refers either to a hardened connective tissue or to one of the individual structures, or organs, into which it is formed, found in many animals. Bones support body structures, protect internal organs, and (in conjunction with muscles) facilitate movement; are also involved with cell formation, calcium metabolism, and mineral storage. The bones of an animal are, collectively, known as the skeleton.
Protein
Any of a group of complex organic compounds which contain carbon, hydrogen, oxygen, nitrogen, and usually sulfur, the characteristic element being nitrogen. Proteins, the principal constituents of the protoplasm of all cells, are of high molecular weight and consist essentially of combinations of a-amino acids in peptide linkages. Twenty different amino acids are commonly found in proteins, and each protein has a unique genetically defined amino acid sequence which determines its specific shape and function. Their roles include enzymatic catalysis, transport and storage, coordinated motion, nerve impulse generation and many others.
Receptor
A molecule that recognizes a unique hormone. Once that hormone is bound to the receptor, the information carried by the hormone can now exert its biological action.
BMPR1A
A gene located on chromosome 10 in band 10q22.3 that encodes bone morphogenic protein receptor 1A, a kinase receptor that is involved in bone morphogenetic protein (BMP) signaling. Mutations in BMPR1A account for 25% to 40% of cases of juvenile polyposis, an autosomal dominant gastrointestinal polyposis syndrome in which patients are at risk for developing gastrointestinal cancers.
Polyposis
The presence of many polyps.
Autosomal
"Pertaining to a chromosome that is not a sex chromosome; relating to any one of the chromosomes save the sex chromosomes. People normally have 22 pairs of autosomes (44 autosomes) in each cell together with two sex chromosomes (X and Y in the male and XX in the female). "
Dominant
A genetic trait is considered dominant if it is expressed in a person who has only one copy of that gene. (In genetic terms, a dominant trait is one that is phenotypically expressed in heterozygotes). A dominant trait is opposed to a recessive trait which is expressed only when two copies of the gene are present. (In genetic terms, a recessive trait is one that is phenotypically expressed only in homozygotes).
Gastrointestinal
Having to do with the stomach and intestines.
Syndrome
A grouping of signs and symptoms, based on their frequent co-occurrence, that may suggest a common underlying pathogenesis, course, familial pattern, or treatment selection.
Risk
In clinical trials, the probability of harm or discomfort for subjects, arising from the test product. Acceptable risk differs depending on the condition for which a product is being tested. A product for sore throat, for example, will be expected to have a low incidence of side effects. However, unpleasant side effects may be an acceptable risk when testing a promising treatment for a life-threatening illness.
SIMILAR TERMS--------------------------------------
PREVIOUS AND NEXT TERMS--------------------------------------
BMD (bone mineral density)
Abbreviation for bone mineral density and, the synonymous term, bone mass density.
BMI
Body mass index.
BMJ
"The British Medical Journal. The BMJ states that it ""aims to help doctors everywhere practice better medicine and to influence the debate on health."" To achieve these aims (the BMJ) publishes original scientific studies, review and educational articles, and papers commenting on the clinical, scientific, social, political, and economic factors affecting health. "
BMP
Bone morphogenetic protein.
BMP2
Bone morphogenic protein 2.
BMPR1A
BNP
B-type natriuretic peptide.
Board certified
Board certified in medicine means a physician has taken and passed a medical specialty examination.
Board eligible
Board eligible in medicine means that a physician has completed the requirements for admission to a medical specialty board examination but has not taken and passed that examination.
Body cell mass
The total mass of all the cellular elements in the body which constitute all the metabolically active tissue of the body. There is depletion of the body cell mass (BCM) that is characteristic of wasting of the body common with chronic diseases such as AIDS and terminal cancer.
Body dysmorphic disorder
A psychiatric disorder characterized by excessive preoccupation with imagined defects in physical appearance. People with body dysmorphic disorder (BDD) are obsessed by the idea that some part of their body -- their hair, nose, skin, hips, whatever -- is ugly or deformed, when in truth it looks normal. BDD may focus on moles, freckles, acne, minor scars, facial or body hair, or the size and shape of their breasts or genitalia. People with BDD may spend an excess of time looking in the mirror, be forever fixing their hair, or wear heavy makeup or sunglasses inside as a form of camouflage. They may make multiple medical visits or have surgical procedures to correct the imagined defect. Treatment of BDD may involve cognitive behavioral therapy or medications, usually those used in obsessive-compulsive disorder to which BDD may be related. Also called somatoform disorder, dysmorphophobia.
We thank you for using the Health Dictionary to search for BMPR1A. If you have a better definition for BMPR1A than the one presented here, please let us know by making use of the suggest a term option. This definition of BMPR1A may be disputed by other professionals. Our attempt is to provide easy definitions on BMPR1A and any other medical topic for the public at large.This dictionary contains 25007 terms. |
|
|
