|
 |
||
 |
| This glossary contains: 19186 medical terms |
 |
Familial cylindromatosis
|
|
Familial cylindromatosisA genetic syndrome in which numerous benign tumors of skin adnexa (such as the sweat glands) develop, principally on the head and neck. This disorder is inherited in an autosomal manner and is caused by mutation of the CYLD gene on chromosome 16q12-q13. Mutation of CYLD has been likened to having faulty brakes on a car. Instead of a pileup of cars, a pileup of cells results. Topical application of aspirin, another type of brake on cell proliferation, may possibly be useful. Also called the turban tumor syndrome.
RELATED TERMS--------------------------------------
Genetic
Hereditary. Having to do with the genes.
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.
Benign
Non-malignant; not life-threatening.
Skin
Skin is an organ of the integumentary system; which is composed of a layer of tissues that protect underlying muscles and organs. Skin is used for insulation, vitamin D production, sensation, and excretion (through sweat).
Adnexa
"This Latin word (in the plural) is used in medicine in reference to appendages. For example, in gynecology the adnexa are the ""appendages"" of the uterus, namely the ovaries, Fallopian tubes and ligaments that hold the uterus in place."
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). "
Mutation
A change in DNA that alters a gene and thus the gene's product, leading in some cases to deformity or disease. Mutations can occur spontaneously during cell division or can be triggered by environmental stresses, such as sunlight, radiation, and chemicals.
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.
Aspirin
Acetylsalicylic acid. Developed by Bayer. Long used to treat pain, fevers, and inflammation, aspirin is also known to prevent platelets from clumping in the process of blood clot formation. As a result, studies have shown that small, regular doses of aspirin may help prevent heart attacks in: 1) people who have ischemic heart disease, 2) people who are recovering from coronary artery bypass graft surgery, and 3) people who have no symptoms but are at high risk. Aspirin is also used to prevent strokes and TIAs is people who have been diagnosed with cardiovascular disease.
Cell
Fundamental structural unit of all life. The cell consists primarily of an outer plasma membrane, which separates it from the environment; the genetic material (DNA), which encodes heritable information for the maintainance of life; and the cytoplasm, a heterogeneous assemblage of ions, molecules, and fluid.
Tumor
Overgrowth of tissue.
SIMILAR TERMS--------------------------------------
Familial
A condition that is tends to occur more often in family members than expected by chance alone. A familial disease may be genetic (such as cystic fibrosis) or environmental (such as tuberculosis).
Familial adenomatous polyposis
Abbreviated FAP. A syndrome characterized by the formation of thousands of polyps in the colon and rectum with colorectal cancer the inevitable consequence. Polyps can also occur in the stomach, duodenum and the terminal ileum. The polyps most often begin to form at puberty. And colon cancer usually occurs 10 to 15 years thereafter. The average age of diagnosis of familial polyposis is 25 years of age, with cancers developing at age 20 to 30. However, cancers may arise anywhere from late childhood to the sixties.
Familial ALS
ALS (amyotrophic lateral sclerosis) in which there a family history of the disease. Familial ALS constitutes 5 to 10% of all cases of ALS. There are a number of different types of familial ALS. They are known as ALS1, ALS2, and so on. ALS1 -- caused by mutation in the superoxide dismutase-1 gene (SOD1) on chromosome 21q22.1. About 15 to 20% of familial ALS is type 1 (ALS1). Sporadic cases of ALS are sometimes due to new mutation in the SOD1 gene; ALS2 -- juvenile-onset ALS caused by mutation in the gene encoding alsin on chromosome 2q33; ALS3 -- adult-onset ALS due to mutation in a gene on chromosome 18q21; ALS4 -- juvenile-onset disease with no bulbar involvement due to mutations in a gene on chromosome 9q34; ALS5 -- due to mutations in a gene on chromosome 15q15.1-q21.1; ALS6 -- due to mutations in a gene on chromosome 16q12; ALS7 -- due to mutations in a gene on chromosome 20ptel; ALS8 -- due to mutations in a gene on chromosome 20q13.33. ALS1, ALS3, ALS4, ALS6, ALS7, and ALS8 are inherited in an autosomal dominant manner while ALS2 and ALS5 are inherited in an autosomal recessive manner.
Familial amyotrophic lateral sclerosis
Amyotrophic lateral sclerosis (ALS) in which there a family history of the disease. Familial ALS constitutes 5 to 10% of all cases of ALS. There are a number of different types of familial ALS. They are known as ALS1, ALS2, and so on. ALS1 -- caused by mutation in the superoxide dismutase-1 gene (SOD1) on chromosome 21q22.1. About 15 to 20% of familial ALS is type 1 (ALS1). Sporadic cases of ALS are sometimes due to new mutation in the SOD1 gene; ALS2 -- juvenile-onset ALS caused by mutation in the gene encoding alsin on chromosome 2q33; ALS3 -- adult-onset ALS due to mutation in a gene on chromosome 18q21; ALS4 -- juvenile-onset disease with no bulbar involvement due to mutations in a gene on chromosome 9q34; ALS5 -- due to mutations in a gene on chromosome 15q15.1-q21.1; ALS6 -- due to mutations in a gene on chromosome 16q12; ALS7 -- due to mutations in a gene on chromosome 20ptel; ALS8 -- due to mutations in a gene on chromosome 20q13.33. ALS1, ALS3, ALS4, ALS6, ALS7, and ALS8 are inherited in an autosomal dominant manner while ALS2 and ALS5 are inherited in an autosomal recessive manner.
Familial breast cancer
A number of factors have been identified that increase the risk of breast cancer. One of the strongest of these risk factors is the history of breast cancer in a relative. About15-20% of women with breast cancer have such a family history of the disease, clearly reflecting the participation of inherited (genetic) components in the development of some breast cancers. Dominant breast cancer susceptibility genes, including BRCA1 and BRCA2, appear responsible for about 5% of all breast cancer. See related entries to: Breast cancer susceptibility genes; BRCA1; BRCA2.
Familial cancer
Cancer or a predisposition (tendency) to it that runs in families.
Familial cholesterolemia
An inherited disorder causing abnormally high levels of cholesterol in the blood.
Familial colorectal cancer
A label applied to families that contain an unusual aggregation of members with cancer of the colon or rectum but that do not appear to have a known inherited colorectal cancer syndrome. Familial colorectal cancer (FCC) is essentially a descriptive term and does not point to a particular underlying cause.
Familial dysautonomia
A genetic disorder of the autonomic nervous system, affecting especially Ashkenazi Jewish children. Familial dysautonomia is inherited in an autosomal recessive manner and is due to mutation in the IKBKAP gene on chromosome 9q31. Dysautonomia refers to the dysfunction of the autonomic nervous system. Familial dysautonomia is symbolized DYS.
Familial eosinophilia
An autosomal dominant condition characterized by an abnormally high level of eosinophils in the blood. Despite the prolonged eosinophilia, there may be no symptoms. The gene for familial eosinophilia, called EOS, has been mapped to chromosome region 5q31-33 containing the cytokine gene cluster which includes the genes for interleukin-3 (IL-3), interleukin-5 (IL-5), and granulocyte colony-stimulating factor (G-CSF), and all of which are thought play roles in the development, proliferation, and activation of eosinophils.
Familial hypertrophic cardiomyopathy
A genetic disorder of the heart characterized by increased growth (hypertrophy) in thickness of the wall of the left ventricle, the largest of the four chambers of the heart. Familial hypertrophic cardiomyopathy (FHCM) can surface any time in life. It may, in a worst-case scenario, lead to death. One in about 500 people have FHCM. Five to 10%of people with FHCM suffer fatal cardiac arrest. It is the leading cause of sudden death in athletes and young people.
Familial juvenile nephronophthisis (FJN)
A childhood genetic kidney disease in which there is progressive symmetrical destruction of the kidneys involving both the tubules and glomeruli, characteristically resulting in anemia, polyuria, polydipsia, isosthenuria (decreased ability to concentrate the urine), progressive renal failure and death in uremia. Hypertension and proteinuria are conspicuous by their absence. The chronic kidney failure affects growth and leads to short stature. The age at death ranges from around 4 to 15 years.
Familial lung cancer
Lung cancer that recurs in families. Lung cancer can occur sporadically in people with no known family history of lung cancer or it can recur in two or more members of the same family and constitute familial lung cancer. A gene for familial lung cancer is on the long (q) arm of chromosome 6 in a region that runs from chromosome band 6q23 through band 6q25. People carrying this gene for familial lung cancer appear unusually sensitive to tobacco smoke. Even a small amount of smoking may be enough to cause lung cancer. By contrast, the risk of lung cancer rises with the amount of smoking in people who do not carry this gene.
Familial Mediterranean Fever
FMF. Autosomal recessive inheritance. Causes attacks of abdominal pain, fever and arthritis. Amyloidosis occurs. Predominantly affects Mediterranean races - e.g. Sephardic Jews.
Familial Mediterranean fever (FMF)
An inherited disorder featuring short recurring crises of severe abdominal pain and bouts of fever. Other symptoms include arthritis, chest pain from inflammation of the lung cavity, and skin rashes. Between attacks, the patient seems healthy. Amyloidosis (the abnormal deposition of a particular protein, called amyloid, in various tissues of the body) is a potentially serious complication and can develop without overt attacks of FMF. The kidney is a prime target for the amyloid.
Familial Parkinson disease type 1
A familial form of Parkinson disease inherited in an autosomal dominant manner due to mutation in the alpha-synuclein gene (SNCA) on chromosome 4q21. Also known as PARK1.
Familial Parkinson disease type 10
A familial form of Parkinson disease inherited in an autosomal dominant manner due to a gene on chromosome 1p. Also known as PARK10.
Familial Parkinson disease type 11
A familial form of Parkinson disease inherited in an autosomal dominant manner due to a gene on chromosome 2q. Also known as PARK11.
Familial Parkinson disease type 2
A familial form of Parkinson disease inherited in an autosomal recessive manner due to mutation in the gene encoding parkin on chromosome 6q25.2-q27. Also known as PARK2.
Familial Parkinson disease type 3
A familial form of Parkinson disease inherited in an autosomal dominant manner due to a gene on chromosome 2p13. Also known as PARK3.
Familial Parkinson disease type 4
A familial form of Parkinson disease inherited in an autosomal dominant manner due to a gene on chromosome 4p15. Also known as PARK4.
Familial Parkinson disease type 5
A familial form of Parkinson disease inherited in an autosomal dominant manner due to mutation in the UCHL1 gene on chromosome 4p14. Also known as PARK5.
Familial Parkinson disease type 6
A familial form of Parkinson disease inherited in an autosomal recessive manner due to mutation in a gene on chromosome 1p distinct from DJ1. Also known as PARK6.
Familial Parkinson disease type 7
A familial form of Parkinson disease inherited in an autosomal recessive manner due to mutation in the DJ1 gene on 1p36. Also known as PARK7.
Familial Parkinson disease type 8
A familial form of Parkinson disease inherited in an autosomal dominant manner due to a gene on chromosome 12p11.2-q13.1. Also known as PARK8.
Familial Parkinson disease type 9
A familial form of Parkinson disease inherited in an autosomal recessive manner due to a gene on chromosome 1p36. Also known as PARK9.
Familial polyposis
An inherited condition in which several hundred polyps develop in the colon and rectum.
Family
1. A group of individuals related by blood or marriage or by a feeling of closeness. 2. A biological classification of related plants or animals that is a division below the order and above the genus. 3. A group of genes related in structure and in function that descended from an ancestral gene. 4. A group of gene products similarly related in structure and function and of shared genetic descent. 5. Parents and their children. The most fundamental social group in humans.
Family and Medical Leave Act
Passed in 1993, the U.S. Family and Medical Leave Act mandates up to 12 weeks of unpaid medical leave for employees of companies with more than 50 employees. Under this act, people can also take leave to care for a sick child, parent, or spouse
Family Centered Maternity Care
Family Centered Maternity Care is a hospital in Dallas, Texas (USA).
Family doctor
A general practitioner (GP) or family physician (FP) is a physician who provides primary care. A GP/FP treats acute and chronic illnesses, provides preventive care and health education for all ages and both sexes. Some also care for hospitalized patients, do minor surgery and/or obstetrics.
Family Enhancement Center
The Family Enhancement Center is a hospital in Wilkes Barre, Pennsylvania, United States.
Family history
The family structure and relationships within the family, including information about diseases in family members. The family history is often recorded in a family pedigree (family tree), which uses conventional symbols. The pedigree provides a ready view of problems or illnesses within the family and facilitates analysis of inheritance patterns. Study of a trait or disease begins with the affected person (the index case). The pedigree is drawn as the relatives are described. One begins with the siblings of the proband and proceeds to the parents; relatives of the parents, including brothers, sisters, nephews, and nieces; grandparents; and so on. At least 3 generations are usually included. Illnesses, hospitalizations, causes of death, miscarriages, abortions, congenital anomalies, and any other unusual features are recorded.
Family Hospital Corporation
Family Hospital Corporation is a hospital in Lewiston, Idaho (USA).
Family medicine
Also called family practice. The medical specialty which provides continuing and comprehensive health care for the individual and family. It is the specialty in breadth which integrates the biological, clinical, and behavioral sciences. The scope of family practice encompasses all ages, both sexes, each organ system, and every disease entity.
Family physician
A physician who is educated and trained in family practice.
Family practice
The medical specialty which provides continuing and comprehensive health care for the individual and family. It is the specialty in breadth which integrates the biological, clinical, and behavioral sciences. The scope of family practice encompasses all ages, both sexes, each organ system, and every disease entity.
Family practitioner
An updated version of the general practitioner who provided one-stop care for all ages and both sexes, the family practitioner has several years ofspecialty training in primary care, including obstetrics.
Family therapy
A type of psychotherapy designed to identify family patterns that contribute to a behavior disorder or mental illness and help family members break those habits. Family therapy involves discussion and problem-solving sessions with the family. Some of these sessions may be as a group, in couples, or one on one. In family therapy, the web of interpersonal relationships is examined and, ideally, communication is strengthened within the family.
Family, gene
A group of genes related in structure and often in function. The genes belonging to a gene family are descended from an ancestral gene. For example, the hemoglobin genes of critical importance to red blood cells belong to one gene family created by gene duplication (making extra copies of a gene) and divergence (divergent changes in the copies of the gene).
PREVIOUS AND NEXT TERMS--------------------------------------
Familial ALS
ALS (amyotrophic lateral sclerosis) in which there a family history of the disease. Familial ALS constitutes 5 to 10% of all cases of ALS. There are a number of different types of familial ALS. They are known as ALS1, ALS2, and so on. ALS1 -- caused by mutation in the superoxide dismutase-1 gene (SOD1) on chromosome 21q22.1. About 15 to 20% of familial ALS is type 1 (ALS1). Sporadic cases of ALS are sometimes due to new mutation in the SOD1 gene; ALS2 -- juvenile-onset ALS caused by mutation in the gene encoding alsin on chromosome 2q33; ALS3 -- adult-onset ALS due to mutation in a gene on chromosome 18q21; ALS4 -- juvenile-onset disease with no bulbar involvement due to mutations in a gene on chromosome 9q34; ALS5 -- due to mutations in a gene on chromosome 15q15.1-q21.1; ALS6 -- due to mutations in a gene on chromosome 16q12; ALS7 -- due to mutations in a gene on chromosome 20ptel; ALS8 -- due to mutations in a gene on chromosome 20q13.33. ALS1, ALS3, ALS4, ALS6, ALS7, and ALS8 are inherited in an autosomal dominant manner while ALS2 and ALS5 are inherited in an autosomal recessive manner.
Familial amyotrophic lateral sclerosis
Amyotrophic lateral sclerosis (ALS) in which there a family history of the disease. Familial ALS constitutes 5 to 10% of all cases of ALS. There are a number of different types of familial ALS. They are known as ALS1, ALS2, and so on. ALS1 -- caused by mutation in the superoxide dismutase-1 gene (SOD1) on chromosome 21q22.1. About 15 to 20% of familial ALS is type 1 (ALS1). Sporadic cases of ALS are sometimes due to new mutation in the SOD1 gene; ALS2 -- juvenile-onset ALS caused by mutation in the gene encoding alsin on chromosome 2q33; ALS3 -- adult-onset ALS due to mutation in a gene on chromosome 18q21; ALS4 -- juvenile-onset disease with no bulbar involvement due to mutations in a gene on chromosome 9q34; ALS5 -- due to mutations in a gene on chromosome 15q15.1-q21.1; ALS6 -- due to mutations in a gene on chromosome 16q12; ALS7 -- due to mutations in a gene on chromosome 20ptel; ALS8 -- due to mutations in a gene on chromosome 20q13.33. ALS1, ALS3, ALS4, ALS6, ALS7, and ALS8 are inherited in an autosomal dominant manner while ALS2 and ALS5 are inherited in an autosomal recessive manner.
Familial breast cancer
A number of factors have been identified that increase the risk of breast cancer. One of the strongest of these risk factors is the history of breast cancer in a relative. About15-20% of women with breast cancer have such a family history of the disease, clearly reflecting the participation of inherited (genetic) components in the development of some breast cancers. Dominant breast cancer susceptibility genes, including BRCA1 and BRCA2, appear responsible for about 5% of all breast cancer. See related entries to: Breast cancer susceptibility genes; BRCA1; BRCA2.
Familial cancer
Cancer or a predisposition (tendency) to it that runs in families.
Familial colorectal cancer
A label applied to families that contain an unusual aggregation of members with cancer of the colon or rectum but that do not appear to have a known inherited colorectal cancer syndrome. Familial colorectal cancer (FCC) is essentially a descriptive term and does not point to a particular underlying cause.
Familial cylindromatosis
Familial dysautonomia
A genetic disorder of the autonomic nervous system, affecting especially Ashkenazi Jewish children. Familial dysautonomia is inherited in an autosomal recessive manner and is due to mutation in the IKBKAP gene on chromosome 9q31. Dysautonomia refers to the dysfunction of the autonomic nervous system. Familial dysautonomia is symbolized DYS.
Familial eosinophilia
An autosomal dominant condition characterized by an abnormally high level of eosinophils in the blood. Despite the prolonged eosinophilia, there may be no symptoms. The gene for familial eosinophilia, called EOS, has been mapped to chromosome region 5q31-33 containing the cytokine gene cluster which includes the genes for interleukin-3 (IL-3), interleukin-5 (IL-5), and granulocyte colony-stimulating factor (G-CSF), and all of which are thought play roles in the development, proliferation, and activation of eosinophils.
Familial hypertrophic cardiomyopathy
A genetic disorder of the heart characterized by increased growth (hypertrophy) in thickness of the wall of the left ventricle, the largest of the four chambers of the heart. Familial hypertrophic cardiomyopathy (FHCM) can surface any time in life. It may, in a worst-case scenario, lead to death. One in about 500 people have FHCM. Five to 10%of people with FHCM suffer fatal cardiac arrest. It is the leading cause of sudden death in athletes and young people.
Familial juvenile nephronophthisis (FJN)
A childhood genetic kidney disease in which there is progressive symmetrical destruction of the kidneys involving both the tubules and glomeruli, characteristically resulting in anemia, polyuria, polydipsia, isosthenuria (decreased ability to concentrate the urine), progressive renal failure and death in uremia. Hypertension and proteinuria are conspicuous by their absence. The chronic kidney failure affects growth and leads to short stature. The age at death ranges from around 4 to 15 years.
Familial lung cancer
Lung cancer that recurs in families. Lung cancer can occur sporadically in people with no known family history of lung cancer or it can recur in two or more members of the same family and constitute familial lung cancer. A gene for familial lung cancer is on the long (q) arm of chromosome 6 in a region that runs from chromosome band 6q23 through band 6q25. People carrying this gene for familial lung cancer appear unusually sensitive to tobacco smoke. Even a small amount of smoking may be enough to cause lung cancer. By contrast, the risk of lung cancer rises with the amount of smoking in people who do not carry this gene.
RELATED TERMS--------------------------------------
Genetic
Hereditary. Having to do with the genes.
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.
Benign
Non-malignant; not life-threatening.
Skin
Skin is an organ of the integumentary system; which is composed of a layer of tissues that protect underlying muscles and organs. Skin is used for insulation, vitamin D production, sensation, and excretion (through sweat).
Adnexa
"This Latin word (in the plural) is used in medicine in reference to appendages. For example, in gynecology the adnexa are the ""appendages"" of the uterus, namely the ovaries, Fallopian tubes and ligaments that hold the uterus in place."
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). "
Mutation
A change in DNA that alters a gene and thus the gene's product, leading in some cases to deformity or disease. Mutations can occur spontaneously during cell division or can be triggered by environmental stresses, such as sunlight, radiation, and chemicals.
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.
Aspirin
Acetylsalicylic acid. Developed by Bayer. Long used to treat pain, fevers, and inflammation, aspirin is also known to prevent platelets from clumping in the process of blood clot formation. As a result, studies have shown that small, regular doses of aspirin may help prevent heart attacks in: 1) people who have ischemic heart disease, 2) people who are recovering from coronary artery bypass graft surgery, and 3) people who have no symptoms but are at high risk. Aspirin is also used to prevent strokes and TIAs is people who have been diagnosed with cardiovascular disease.
Cell
Fundamental structural unit of all life. The cell consists primarily of an outer plasma membrane, which separates it from the environment; the genetic material (DNA), which encodes heritable information for the maintainance of life; and the cytoplasm, a heterogeneous assemblage of ions, molecules, and fluid.
Tumor
Overgrowth of tissue.
SIMILAR TERMS--------------------------------------
Familial
A condition that is tends to occur more often in family members than expected by chance alone. A familial disease may be genetic (such as cystic fibrosis) or environmental (such as tuberculosis).
Familial adenomatous polyposis
Abbreviated FAP. A syndrome characterized by the formation of thousands of polyps in the colon and rectum with colorectal cancer the inevitable consequence. Polyps can also occur in the stomach, duodenum and the terminal ileum. The polyps most often begin to form at puberty. And colon cancer usually occurs 10 to 15 years thereafter. The average age of diagnosis of familial polyposis is 25 years of age, with cancers developing at age 20 to 30. However, cancers may arise anywhere from late childhood to the sixties.
Familial ALS
ALS (amyotrophic lateral sclerosis) in which there a family history of the disease. Familial ALS constitutes 5 to 10% of all cases of ALS. There are a number of different types of familial ALS. They are known as ALS1, ALS2, and so on. ALS1 -- caused by mutation in the superoxide dismutase-1 gene (SOD1) on chromosome 21q22.1. About 15 to 20% of familial ALS is type 1 (ALS1). Sporadic cases of ALS are sometimes due to new mutation in the SOD1 gene; ALS2 -- juvenile-onset ALS caused by mutation in the gene encoding alsin on chromosome 2q33; ALS3 -- adult-onset ALS due to mutation in a gene on chromosome 18q21; ALS4 -- juvenile-onset disease with no bulbar involvement due to mutations in a gene on chromosome 9q34; ALS5 -- due to mutations in a gene on chromosome 15q15.1-q21.1; ALS6 -- due to mutations in a gene on chromosome 16q12; ALS7 -- due to mutations in a gene on chromosome 20ptel; ALS8 -- due to mutations in a gene on chromosome 20q13.33. ALS1, ALS3, ALS4, ALS6, ALS7, and ALS8 are inherited in an autosomal dominant manner while ALS2 and ALS5 are inherited in an autosomal recessive manner.
Familial amyotrophic lateral sclerosis
Amyotrophic lateral sclerosis (ALS) in which there a family history of the disease. Familial ALS constitutes 5 to 10% of all cases of ALS. There are a number of different types of familial ALS. They are known as ALS1, ALS2, and so on. ALS1 -- caused by mutation in the superoxide dismutase-1 gene (SOD1) on chromosome 21q22.1. About 15 to 20% of familial ALS is type 1 (ALS1). Sporadic cases of ALS are sometimes due to new mutation in the SOD1 gene; ALS2 -- juvenile-onset ALS caused by mutation in the gene encoding alsin on chromosome 2q33; ALS3 -- adult-onset ALS due to mutation in a gene on chromosome 18q21; ALS4 -- juvenile-onset disease with no bulbar involvement due to mutations in a gene on chromosome 9q34; ALS5 -- due to mutations in a gene on chromosome 15q15.1-q21.1; ALS6 -- due to mutations in a gene on chromosome 16q12; ALS7 -- due to mutations in a gene on chromosome 20ptel; ALS8 -- due to mutations in a gene on chromosome 20q13.33. ALS1, ALS3, ALS4, ALS6, ALS7, and ALS8 are inherited in an autosomal dominant manner while ALS2 and ALS5 are inherited in an autosomal recessive manner.
Familial breast cancer
A number of factors have been identified that increase the risk of breast cancer. One of the strongest of these risk factors is the history of breast cancer in a relative. About15-20% of women with breast cancer have such a family history of the disease, clearly reflecting the participation of inherited (genetic) components in the development of some breast cancers. Dominant breast cancer susceptibility genes, including BRCA1 and BRCA2, appear responsible for about 5% of all breast cancer. See related entries to: Breast cancer susceptibility genes; BRCA1; BRCA2.
Familial cancer
Cancer or a predisposition (tendency) to it that runs in families.
Familial cholesterolemia
An inherited disorder causing abnormally high levels of cholesterol in the blood.
Familial colorectal cancer
A label applied to families that contain an unusual aggregation of members with cancer of the colon or rectum but that do not appear to have a known inherited colorectal cancer syndrome. Familial colorectal cancer (FCC) is essentially a descriptive term and does not point to a particular underlying cause.
Familial dysautonomia
A genetic disorder of the autonomic nervous system, affecting especially Ashkenazi Jewish children. Familial dysautonomia is inherited in an autosomal recessive manner and is due to mutation in the IKBKAP gene on chromosome 9q31. Dysautonomia refers to the dysfunction of the autonomic nervous system. Familial dysautonomia is symbolized DYS.
Familial eosinophilia
An autosomal dominant condition characterized by an abnormally high level of eosinophils in the blood. Despite the prolonged eosinophilia, there may be no symptoms. The gene for familial eosinophilia, called EOS, has been mapped to chromosome region 5q31-33 containing the cytokine gene cluster which includes the genes for interleukin-3 (IL-3), interleukin-5 (IL-5), and granulocyte colony-stimulating factor (G-CSF), and all of which are thought play roles in the development, proliferation, and activation of eosinophils.
Familial hypertrophic cardiomyopathy
A genetic disorder of the heart characterized by increased growth (hypertrophy) in thickness of the wall of the left ventricle, the largest of the four chambers of the heart. Familial hypertrophic cardiomyopathy (FHCM) can surface any time in life. It may, in a worst-case scenario, lead to death. One in about 500 people have FHCM. Five to 10%of people with FHCM suffer fatal cardiac arrest. It is the leading cause of sudden death in athletes and young people.
Familial juvenile nephronophthisis (FJN)
A childhood genetic kidney disease in which there is progressive symmetrical destruction of the kidneys involving both the tubules and glomeruli, characteristically resulting in anemia, polyuria, polydipsia, isosthenuria (decreased ability to concentrate the urine), progressive renal failure and death in uremia. Hypertension and proteinuria are conspicuous by their absence. The chronic kidney failure affects growth and leads to short stature. The age at death ranges from around 4 to 15 years.
Familial lung cancer
Lung cancer that recurs in families. Lung cancer can occur sporadically in people with no known family history of lung cancer or it can recur in two or more members of the same family and constitute familial lung cancer. A gene for familial lung cancer is on the long (q) arm of chromosome 6 in a region that runs from chromosome band 6q23 through band 6q25. People carrying this gene for familial lung cancer appear unusually sensitive to tobacco smoke. Even a small amount of smoking may be enough to cause lung cancer. By contrast, the risk of lung cancer rises with the amount of smoking in people who do not carry this gene.
Familial Mediterranean Fever
FMF. Autosomal recessive inheritance. Causes attacks of abdominal pain, fever and arthritis. Amyloidosis occurs. Predominantly affects Mediterranean races - e.g. Sephardic Jews.
Familial Mediterranean fever (FMF)
An inherited disorder featuring short recurring crises of severe abdominal pain and bouts of fever. Other symptoms include arthritis, chest pain from inflammation of the lung cavity, and skin rashes. Between attacks, the patient seems healthy. Amyloidosis (the abnormal deposition of a particular protein, called amyloid, in various tissues of the body) is a potentially serious complication and can develop without overt attacks of FMF. The kidney is a prime target for the amyloid.
Familial Parkinson disease type 1
A familial form of Parkinson disease inherited in an autosomal dominant manner due to mutation in the alpha-synuclein gene (SNCA) on chromosome 4q21. Also known as PARK1.
Familial Parkinson disease type 10
A familial form of Parkinson disease inherited in an autosomal dominant manner due to a gene on chromosome 1p. Also known as PARK10.
Familial Parkinson disease type 11
A familial form of Parkinson disease inherited in an autosomal dominant manner due to a gene on chromosome 2q. Also known as PARK11.
Familial Parkinson disease type 2
A familial form of Parkinson disease inherited in an autosomal recessive manner due to mutation in the gene encoding parkin on chromosome 6q25.2-q27. Also known as PARK2.
Familial Parkinson disease type 3
A familial form of Parkinson disease inherited in an autosomal dominant manner due to a gene on chromosome 2p13. Also known as PARK3.
Familial Parkinson disease type 4
A familial form of Parkinson disease inherited in an autosomal dominant manner due to a gene on chromosome 4p15. Also known as PARK4.
Familial Parkinson disease type 5
A familial form of Parkinson disease inherited in an autosomal dominant manner due to mutation in the UCHL1 gene on chromosome 4p14. Also known as PARK5.
Familial Parkinson disease type 6
A familial form of Parkinson disease inherited in an autosomal recessive manner due to mutation in a gene on chromosome 1p distinct from DJ1. Also known as PARK6.
Familial Parkinson disease type 7
A familial form of Parkinson disease inherited in an autosomal recessive manner due to mutation in the DJ1 gene on 1p36. Also known as PARK7.
Familial Parkinson disease type 8
A familial form of Parkinson disease inherited in an autosomal dominant manner due to a gene on chromosome 12p11.2-q13.1. Also known as PARK8.
Familial Parkinson disease type 9
A familial form of Parkinson disease inherited in an autosomal recessive manner due to a gene on chromosome 1p36. Also known as PARK9.
Familial polyposis
An inherited condition in which several hundred polyps develop in the colon and rectum.
Family
1. A group of individuals related by blood or marriage or by a feeling of closeness. 2. A biological classification of related plants or animals that is a division below the order and above the genus. 3. A group of genes related in structure and in function that descended from an ancestral gene. 4. A group of gene products similarly related in structure and function and of shared genetic descent. 5. Parents and their children. The most fundamental social group in humans.
Family and Medical Leave Act
Passed in 1993, the U.S. Family and Medical Leave Act mandates up to 12 weeks of unpaid medical leave for employees of companies with more than 50 employees. Under this act, people can also take leave to care for a sick child, parent, or spouse
Family Centered Maternity Care
Family Centered Maternity Care is a hospital in Dallas, Texas (USA).
Family doctor
A general practitioner (GP) or family physician (FP) is a physician who provides primary care. A GP/FP treats acute and chronic illnesses, provides preventive care and health education for all ages and both sexes. Some also care for hospitalized patients, do minor surgery and/or obstetrics.
Family Enhancement Center
The Family Enhancement Center is a hospital in Wilkes Barre, Pennsylvania, United States.
Family history
The family structure and relationships within the family, including information about diseases in family members. The family history is often recorded in a family pedigree (family tree), which uses conventional symbols. The pedigree provides a ready view of problems or illnesses within the family and facilitates analysis of inheritance patterns. Study of a trait or disease begins with the affected person (the index case). The pedigree is drawn as the relatives are described. One begins with the siblings of the proband and proceeds to the parents; relatives of the parents, including brothers, sisters, nephews, and nieces; grandparents; and so on. At least 3 generations are usually included. Illnesses, hospitalizations, causes of death, miscarriages, abortions, congenital anomalies, and any other unusual features are recorded.
Family Hospital Corporation
Family Hospital Corporation is a hospital in Lewiston, Idaho (USA).
Family medicine
Also called family practice. The medical specialty which provides continuing and comprehensive health care for the individual and family. It is the specialty in breadth which integrates the biological, clinical, and behavioral sciences. The scope of family practice encompasses all ages, both sexes, each organ system, and every disease entity.
Family physician
A physician who is educated and trained in family practice.
Family practice
The medical specialty which provides continuing and comprehensive health care for the individual and family. It is the specialty in breadth which integrates the biological, clinical, and behavioral sciences. The scope of family practice encompasses all ages, both sexes, each organ system, and every disease entity.
Family practitioner
An updated version of the general practitioner who provided one-stop care for all ages and both sexes, the family practitioner has several years ofspecialty training in primary care, including obstetrics.
Family therapy
A type of psychotherapy designed to identify family patterns that contribute to a behavior disorder or mental illness and help family members break those habits. Family therapy involves discussion and problem-solving sessions with the family. Some of these sessions may be as a group, in couples, or one on one. In family therapy, the web of interpersonal relationships is examined and, ideally, communication is strengthened within the family.
Family, gene
A group of genes related in structure and often in function. The genes belonging to a gene family are descended from an ancestral gene. For example, the hemoglobin genes of critical importance to red blood cells belong to one gene family created by gene duplication (making extra copies of a gene) and divergence (divergent changes in the copies of the gene).
PREVIOUS AND NEXT TERMS--------------------------------------
Familial ALS
ALS (amyotrophic lateral sclerosis) in which there a family history of the disease. Familial ALS constitutes 5 to 10% of all cases of ALS. There are a number of different types of familial ALS. They are known as ALS1, ALS2, and so on. ALS1 -- caused by mutation in the superoxide dismutase-1 gene (SOD1) on chromosome 21q22.1. About 15 to 20% of familial ALS is type 1 (ALS1). Sporadic cases of ALS are sometimes due to new mutation in the SOD1 gene; ALS2 -- juvenile-onset ALS caused by mutation in the gene encoding alsin on chromosome 2q33; ALS3 -- adult-onset ALS due to mutation in a gene on chromosome 18q21; ALS4 -- juvenile-onset disease with no bulbar involvement due to mutations in a gene on chromosome 9q34; ALS5 -- due to mutations in a gene on chromosome 15q15.1-q21.1; ALS6 -- due to mutations in a gene on chromosome 16q12; ALS7 -- due to mutations in a gene on chromosome 20ptel; ALS8 -- due to mutations in a gene on chromosome 20q13.33. ALS1, ALS3, ALS4, ALS6, ALS7, and ALS8 are inherited in an autosomal dominant manner while ALS2 and ALS5 are inherited in an autosomal recessive manner.
Familial amyotrophic lateral sclerosis
Amyotrophic lateral sclerosis (ALS) in which there a family history of the disease. Familial ALS constitutes 5 to 10% of all cases of ALS. There are a number of different types of familial ALS. They are known as ALS1, ALS2, and so on. ALS1 -- caused by mutation in the superoxide dismutase-1 gene (SOD1) on chromosome 21q22.1. About 15 to 20% of familial ALS is type 1 (ALS1). Sporadic cases of ALS are sometimes due to new mutation in the SOD1 gene; ALS2 -- juvenile-onset ALS caused by mutation in the gene encoding alsin on chromosome 2q33; ALS3 -- adult-onset ALS due to mutation in a gene on chromosome 18q21; ALS4 -- juvenile-onset disease with no bulbar involvement due to mutations in a gene on chromosome 9q34; ALS5 -- due to mutations in a gene on chromosome 15q15.1-q21.1; ALS6 -- due to mutations in a gene on chromosome 16q12; ALS7 -- due to mutations in a gene on chromosome 20ptel; ALS8 -- due to mutations in a gene on chromosome 20q13.33. ALS1, ALS3, ALS4, ALS6, ALS7, and ALS8 are inherited in an autosomal dominant manner while ALS2 and ALS5 are inherited in an autosomal recessive manner.
Familial breast cancer
A number of factors have been identified that increase the risk of breast cancer. One of the strongest of these risk factors is the history of breast cancer in a relative. About15-20% of women with breast cancer have such a family history of the disease, clearly reflecting the participation of inherited (genetic) components in the development of some breast cancers. Dominant breast cancer susceptibility genes, including BRCA1 and BRCA2, appear responsible for about 5% of all breast cancer. See related entries to: Breast cancer susceptibility genes; BRCA1; BRCA2.
Familial cancer
Cancer or a predisposition (tendency) to it that runs in families.
Familial colorectal cancer
A label applied to families that contain an unusual aggregation of members with cancer of the colon or rectum but that do not appear to have a known inherited colorectal cancer syndrome. Familial colorectal cancer (FCC) is essentially a descriptive term and does not point to a particular underlying cause.
Familial cylindromatosis
Familial dysautonomia
A genetic disorder of the autonomic nervous system, affecting especially Ashkenazi Jewish children. Familial dysautonomia is inherited in an autosomal recessive manner and is due to mutation in the IKBKAP gene on chromosome 9q31. Dysautonomia refers to the dysfunction of the autonomic nervous system. Familial dysautonomia is symbolized DYS.
Familial eosinophilia
An autosomal dominant condition characterized by an abnormally high level of eosinophils in the blood. Despite the prolonged eosinophilia, there may be no symptoms. The gene for familial eosinophilia, called EOS, has been mapped to chromosome region 5q31-33 containing the cytokine gene cluster which includes the genes for interleukin-3 (IL-3), interleukin-5 (IL-5), and granulocyte colony-stimulating factor (G-CSF), and all of which are thought play roles in the development, proliferation, and activation of eosinophils.
Familial hypertrophic cardiomyopathy
A genetic disorder of the heart characterized by increased growth (hypertrophy) in thickness of the wall of the left ventricle, the largest of the four chambers of the heart. Familial hypertrophic cardiomyopathy (FHCM) can surface any time in life. It may, in a worst-case scenario, lead to death. One in about 500 people have FHCM. Five to 10%of people with FHCM suffer fatal cardiac arrest. It is the leading cause of sudden death in athletes and young people.
Familial juvenile nephronophthisis (FJN)
A childhood genetic kidney disease in which there is progressive symmetrical destruction of the kidneys involving both the tubules and glomeruli, characteristically resulting in anemia, polyuria, polydipsia, isosthenuria (decreased ability to concentrate the urine), progressive renal failure and death in uremia. Hypertension and proteinuria are conspicuous by their absence. The chronic kidney failure affects growth and leads to short stature. The age at death ranges from around 4 to 15 years.
Familial lung cancer
Lung cancer that recurs in families. Lung cancer can occur sporadically in people with no known family history of lung cancer or it can recur in two or more members of the same family and constitute familial lung cancer. A gene for familial lung cancer is on the long (q) arm of chromosome 6 in a region that runs from chromosome band 6q23 through band 6q25. People carrying this gene for familial lung cancer appear unusually sensitive to tobacco smoke. Even a small amount of smoking may be enough to cause lung cancer. By contrast, the risk of lung cancer rises with the amount of smoking in people who do not carry this gene.
We thank you for using the Medical Glossary to search for Familial cylindromatosis. If you have a better definition for Familial cylindromatosis than the one presented here, please let us know by making use of the suggest a term option. This definition of Familial cylindromatosis may be disputed by other professionals. Our attempt is to provide easy definitions on Familial cylindromatosis and any other medical topic for the public at large.
This dictionary contains 19186 terms.
|
|