bowang0911/MedQuAD huggingface dataset:
X-linked chondrodysplasia punctata 2 is a disorder characterized by bone, skin, and eye abnormalities. It occurs almost exclusively in females.  Although the signs and symptoms of this condition vary widely, almost all affected individuals have chondrodysplasia punctata, an abnormality that appears on x-rays as spots (stippling) near the ends of bones and in cartilage. In this form of chondrodysplasia punctata, the stippling typically affects the long bones in the arms and legs, the ribs, the spinal bones (vertebrae), and the cartilage that makes up the windpipe (trachea). The stippling is apparent in infancy but disappears in early childhood. Other skeletal abnormalities seen in people with X-linked chondrodysplasia punctata 2 include shortening of the bones in the upper arms and thighs (rhizomelia) that is often different on the right and left sides, and progressive abnormal curvature of the spine (kyphoscoliosis). As a result of these abnormalities, people with this condition tend to have short stature.  Infants with X-linked chondrodysplasia punctata 2 are born with dry, scaly patches of skin (ichthyosis) in a linear or spiral (whorled) pattern. The scaly patches fade over time, leaving abnormally colored blotches of skin without hair (follicular atrophoderma). Most affected individuals also have sparse, coarse hair on their scalps.  Most people with X-linked chondrodysplasia punctata 2 have clouding of the lens of the eye (cataracts) from birth or early childhood. Other eye abnormalities that have been associated with this disorder include unusually small eyes (microphthalmia) and small corneas (microcornea). The cornea is the clear front surface of the eye. These eye abnormalities can impair vision.  In affected females, X-linked chondrodysplasia punctata 2 is typically associated with normal intelligence and a normal lifespan. However, a much more severe form of the condition has been reported in a small number of males. Affected males have some of the same features as affected females, as well as weak muscle tone (hypotonia), changes in the structure of the brain, moderately to profoundly delayed development, seizures, distinctive facial features, and other birth defects. The health problems associated with X-linked chondrodysplasia punctata 2 are often life-threatening in males.
X-linked chondrodysplasia punctata 2 has been estimated to affect fewer than 1 in 400,000 newborns. However, the disorder may actually be more common than this estimate because it is likely underdiagnosed, particularly in females with mild signs and symptoms.  More than 95 percent of cases of X-linked chondrodysplasia punctata 2 occur in females. About a dozen males with the condition have been reported in the scientific literature.
X-linked chondrodysplasia punctata 2 is caused by mutations in the EBP gene. This gene provides instructions for making an enzyme called 3-hydroxysteroid-8,7-isomerase, which is responsible for one of the final steps in the production of cholesterol. Cholesterol is a waxy, fat-like substance that is produced in the body and obtained from foods that come from animals (particularly egg yolks, meat, poultry, fish, and dairy products). Although too much cholesterol is a risk factor for heart disease, this molecule is necessary for normal embryonic development and has important functions both before and after birth. It is a structural component of cell membranes and plays a role in the production of certain hormones and digestive acids.  Mutations in the EBP gene reduce the activity of 3-hydroxysteroid-8,7-isomerase, preventing cells from producing enough cholesterol. A shortage of this enzyme also allows potentially toxic byproducts of cholesterol production to build up in the body. The combination of low cholesterol levels and an accumulation of other substances likely disrupts the growth and development of many body systems. It is not known, however, how this disturbance in cholesterol production leads to the specific features of X-linked chondrodysplasia punctata 2.
This condition is inherited in an X-linked dominant pattern. The gene associated with this condition is located on the X chromosome, which is one of the two sex chromosomes. In females (who have two X chromosomes), a mutation in one of the two copies of the EBP gene in each cell is sufficient to cause the disorder. Some cells produce a normal amount of 3-hydroxysteroid-8,7-isomerase and other cells produce none. The resulting overall reduction in the amount of this enzyme underlies the signs and symptoms of X-linked chondrodysplasia punctata 2.  In males (who have only one X chromosome), a mutation in the EBP gene can result in a total loss of 3-hydroxysteroid-8,7-isomerase. A complete lack of this enzyme is usually lethal in the early stages of development, so few males have been born with X-linked chondrodysplasia punctata 2.
These resources address the diagnosis or management of X-linked chondrodysplasia punctata 2:  - Gene Review: Gene Review: Chondrodysplasia Punctata 2, X-Linked  - Genetic Testing Registry: Chondrodysplasia punctata 2 X-linked dominant   These resources from MedlinePlus offer information about the diagnosis and management of various health conditions:  - Diagnostic Tests  - Drug Therapy  - Surgery and Rehabilitation  - Genetic Counseling   - Palliative Care
Familial idiopathic basal ganglia calcification (FIBGC, formerly known as Fahr disease) is a condition characterized by abnormal deposits of calcium (calcification) in the brain. These calcium deposits typically occur in the basal ganglia, which are structures deep within the brain that help start and control movement; however, other brain regions can also be affected.  The signs and symptoms of FIBGC include movement disorders and psychiatric or behavioral difficulties. These problems begin in adulthood, usually in a person's thirties. The movement difficulties experienced by people with FIBGC include involuntary tensing of various muscles (dystonia), problems coordinating movements (ataxia), and uncontrollable movements of the limbs (choreoathetosis). Affected individuals often have seizures as well. The psychiatric and behavioral problems include difficulty concentrating, memory loss, changes in personality, a distorted view of reality (psychosis), and decline in intellectual function (dementia). An estimated 20 to 30 percent of people with FIBGC have one of these psychiatric disorders.  The severity of this condition varies among affected individuals; some people have no symptoms related to the brain calcification, whereas other people have significant movement and psychiatric problems.
Mutations in the SLC20A2 gene cause nearly half of all cases of FIBGC. A small percentage of cases are caused by mutations in the PDGFRB gene. Other cases of FIBGC appear to be associated with changes in chromosomes 2, 7, 9, and 14, although specific genes have yet to be identified. These findings suggest that multiple genes are involved in this condition.  The SLC20A2 gene provides instructions for making a protein called sodium-dependent phosphate transporter 2 (PiT-2). This protein plays a major role in regulating phosphate levels within the body (phosphate homeostasis) by transporting phosphate across cell membranes. The SLC20A2 gene mutations that cause FIBGC lead to the production of a PiT-2 protein that cannot effectively transport phosphate into cells. As a result, phosphate levels in the bloodstream rise. In the brain, the excess phosphate combines with calcium and forms deposits.  The PDGFRB gene provides instructions for making a protein that plays a role in turning on (activating) signaling pathways that control many cell processes. It is unclear how PDGFRB gene mutations cause FIBGC. Mutations may alter signaling within cells that line blood vessels in the brain, causing them to take in excess calcium, and leading to calcification of the lining of these blood vessels. Alternatively, changes in the PDGFRB protein could alter phosphate transport signaling pathways, causing an increase in phosphate levels and the formation of calcium deposits.  Researchers suggest that calcium deposits lead to the characteristic features of FIBGC by interrupting signaling pathways in various parts of the brain. Calcium deposits may disrupt the pathways that connect the basal ganglia to other areas of the brain, particularly the frontal lobes. These areas at the front of the brain are involved in reasoning, planning, judgment, and problem-solving. The regions of the brain that regulate social behavior, mood, and motivation may also be affected.  Research has shown that people with significant calcification tend to have more signs and symptoms of FIBGC than people with little or no calcification. However, this association does not apply to all people with FIBGC.
These resources address the diagnosis or management of FIBGC:  - Dystonia Medical Research Foundation: Treatments  - Gene Review: Gene Review: Primary Familial Brain Calcification  - Genetic Testing Registry: Basal ganglia calcification, idiopathic, 2  - Genetic Testing Registry: Basal ganglia calcification, idiopathic, 4  - Genetic Testing Registry: Idiopathic basal ganglia calcification 1   These resources from MedlinePlus offer information about the diagnosis and management of various health conditions:  - Diagnostic Tests  - Drug Therapy  - Surgery and Rehabilitation  - Genetic Counseling   - Palliative Care
Familial atrial fibrillation is an inherited condition that disrupts the heart's normal rhythm. This condition is characterized by uncoordinated electrical activity in the heart's upper chambers (the atria), which causes the heartbeat to become fast and irregular. If untreated, this abnormal heart rhythm can lead to dizziness, chest pain, a sensation of fluttering or pounding in the chest (palpitations), shortness of breath, or fainting (syncope). Atrial fibrillation also increases the risk of stroke and sudden death. Complications of familial atrial fibrillation can occur at any age, although some people with this heart condition never experience any health problems associated with the disorder.
Atrial fibrillation is the most common type of sustained abnormal heart rhythm (arrhythmia), affecting more than 3 million people in the United States. The risk of developing this irregular heart rhythm increases with age. The incidence of the familial form of atrial fibrillation is unknown; however, recent studies suggest that up to 30 percent of all people with atrial fibrillation may have a history of the condition in their family.
A small percentage of all cases of familial atrial fibrillation are associated with changes in the KCNE2, KCNJ2, and KCNQ1 genes. These genes provide instructions for making proteins that act as channels across the cell membrane. These channels transport positively charged atoms (ions) of potassium into and out of cells. In heart (cardiac) muscle, the ion channels produced from the KCNE2, KCNJ2, and KCNQ1 genes play critical roles in maintaining the heart's normal rhythm. Mutations in these genes have been identified in only a few families worldwide. These mutations increase the activity of the channels, which changes the flow of potassium ions between cells. This disruption in ion transport alters the way the heart beats, increasing the risk of syncope, stroke, and sudden death.  Most cases of atrial fibrillation are not caused by mutations in a single gene. This condition is often related to structural abnormalities of the heart or underlying heart disease. Additional risk factors for atrial fibrillation include high blood pressure (hypertension), diabetes mellitus, a previous stroke, or an accumulation of fatty deposits and scar-like tissue in the lining of the arteries (atherosclerosis). Although most cases of atrial fibrillation are not known to run in families, studies suggest that they may arise partly from genetic risk factors. Researchers are working to determine which genetic changes may influence the risk of atrial fibrillation.
These resources address the diagnosis or management of familial atrial fibrillation:  - Genetic Testing Registry: Atrial fibrillation, familial, 1  - Genetic Testing Registry: Atrial fibrillation, familial, 2  - Genetic Testing Registry: Atrial fibrillation, familial, 3  - MedlinePlus Encyclopedia: Arrhythmias  - MedlinePlus Encyclopedia: Atrial fibrillation/flutter   These resources from MedlinePlus offer information about the diagnosis and management of various health conditions:  - Diagnostic Tests  - Drug Therapy  - Surgery and Rehabilitation  - Genetic Counseling   - Palliative Care
Isolated growth hormone deficiency is a condition caused by a severe shortage or absence of growth hormone. Growth hormone is a protein that is necessary for the normal growth of the body's bones and tissues. Because they do not have enough of this hormone, people with isolated growth hormone deficiency commonly experience a failure to grow at the expected rate and have unusually short stature. This condition is usually apparent by early childhood.  There are four types of isolated growth hormone deficiency differentiated by the severity of the condition, the gene involved, and the inheritance pattern.  Isolated growth hormone deficiency type IA is caused by an absence of growth hormone and is the most severe of all the types. In people with type IA, growth failure is evident in infancy as affected babies are shorter than normal at birth.  People with isolated growth hormone deficiency type IB produce very low levels of growth hormone. As a result, type IB is characterized by short stature, but this growth failure is typically not as severe as in type IA. Growth failure in people with type IB is usually apparent in early to mid-childhood.  Individuals with isolated growth hormone deficiency type II have very low levels of growth hormone and short stature that varies in severity. Growth failure in these individuals is usually evident in early to mid-childhood. It is estimated that nearly half of the individuals with type II have underdevelopment of the pituitary gland (pituitary hypoplasia). The pituitary gland is located at the base of the brain and produces many hormones, including growth hormone.  Isolated growth hormone deficiency type III is similar to type II in that affected individuals have very low levels of growth hormone and short stature that varies in severity. Growth failure in type III is usually evident in early to mid-childhood. People with type III may also have a weakened immune system and are prone to frequent infections. They produce very few B cells, which are specialized white blood cells that help protect the body against infection (agammaglobulinemia).
Isolated growth hormone deficiency is caused by mutations in one of at least three genes. Isolated growth hormone deficiency types IA and II are caused by mutations in the GH1 gene. Type IB is caused by mutations in either the GH1 or GHRHR gene. Type III is caused by mutations in the BTK gene.  The GH1 gene provides instructions for making the growth hormone protein. Growth hormone is produced in the pituitary gland and plays a major role in promoting the body's growth. Growth hormone also plays a role in various chemical reactions (metabolic processes) in the body. Mutations in the GH1 gene prevent or impair the production of growth hormone. Without sufficient growth hormone, the body fails to grow at its normal rate, resulting in slow growth and short stature as seen in isolated growth hormone deficiency types IA, IB, and II.  The GHRHR gene provides instructions for making a protein called the growth hormone releasing hormone receptor. This receptor attaches (binds) to a molecule called growth hormone releasing hormone. The binding of growth hormone releasing hormone to the receptor triggers the production of growth hormone and its release from the pituitary gland. Mutations in the GHRHR gene impair the production or release of growth hormone. The resulting shortage of growth hormone prevents the body from growing at the expected rate. Decreased growth hormone activity due to GHRHR gene mutations is responsible for many cases of isolated growth hormone deficiency type IB.  The BTK gene provides instructions for making a protein called Bruton tyrosine kinase (BTK), which is essential for the development and maturation of immune system cells called B cells. The BTK protein transmits important chemical signals that instruct B cells to mature and produce special proteins called antibodies. Antibodies attach to specific foreign particles and germs, marking them for destruction. It is unknown how mutations in the BTK gene contribute to short stature in people with isolated growth hormone deficiency type III.  Some people with isolated growth hormone deficiency do not have mutations in the GH1, GHRHR, or BTK genes. In these individuals, the cause of the condition is unknown. When this condition does not have an identified genetic cause, it is known as idiopathic isolated growth hormone deficiency.
Isolated growth hormone deficiency can have different inheritance patterns depending on the type of the condition.  Isolated growth hormone deficiency types IA and IB are inherited in an autosomal recessive pattern, which means both copies of the GH1 or GHRHR gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.  Isolated growth hormone deficiency type II can be inherited in an autosomal dominant pattern, which means a mutation in one copy of the GH1 gene in each cell is sufficient to cause the disorder. This condition can also result from new mutations in the GH1 gene and occur in people with no history of the disorder in their family.  Isolated growth hormone deficiency type III, caused by mutations in the BTK gene, is inherited in an X-linked recessive pattern. The BTK gene is located on the X chromosome, which is one of the two sex chromosomes. In males (who have only one X chromosome), one altered copy of the gene in each cell is sufficient to cause the condition. In females (who have two X chromosomes), a mutation would have to occur in both copies of the gene to cause the disorder. Because it is unlikely that females will have two altered copies of this gene, males are affected by X-linked recessive disorders much more frequently than females. A characteristic of X-linked inheritance is that fathers cannot pass X-linked traits to their sons.
These resources address the diagnosis or management of isolated growth hormone deficiency:  - Genetic Testing Registry: Ateleiotic dwarfism  - Genetic Testing Registry: Autosomal dominant isolated somatotropin deficiency  - Genetic Testing Registry: Isolated growth hormone deficiency type 1B  - Genetic Testing Registry: X-linked agammaglobulinemia with growth hormone deficiency  - MedlinePlus Encyclopedia: Growth Hormone Test   These resources from MedlinePlus offer information about the diagnosis and management of various health conditions:  - Diagnostic Tests  - Drug Therapy  - Surgery and Rehabilitation  - Genetic Counseling   - Palliative Care
Alstrm syndrome is a rare condition that affects many body systems. Many of the signs and symptoms of this condition begin in infancy or early childhood, although some appear later in life.  Alstrm syndrome is characterized by a progressive loss of vision and hearing, a form of heart disease that enlarges and weakens the heart muscle (dilated cardiomyopathy), obesity, type 2 diabetes mellitus (the most common form of diabetes), and short stature. This disorder can also cause serious or life-threatening medical problems involving the liver, kidneys, bladder, and lungs. Some individuals with Alstrm syndrome have a skin condition called acanthosis nigricans, which causes the skin in body folds and creases to become thick, dark, and velvety. The signs and symptoms of Alstrm syndrome vary in severity, and not all affected individuals have all of the characteristic features of the disorder.
Mutations in the ALMS1 gene cause Alstrm syndrome. The ALMS1 gene provides instructions for making a protein whose function is unknown. Mutations in this gene probably lead to the production of an abnormally short, nonfunctional version of the ALMS1 protein. This protein is normally present at low levels in most tissues, so a loss of the protein's normal function may help explain why the signs and symptoms of Alstrm syndrome affect many parts of the body.
These resources address the diagnosis or management of Alstrm syndrome:  - Gene Review: Gene Review: Alstrom Syndrome  - Genetic Testing Registry: Alstrom syndrome  - MedlinePlus Encyclopedia: Acanthosis Nigricans  - MedlinePlus Encyclopedia: Alstrm syndrome   These resources from MedlinePlus offer information about the diagnosis and management of various health conditions:  - Diagnostic Tests  - Drug Therapy  - Surgery and Rehabilitation  - Genetic Counseling   - Palliative Care
Meige disease is a condition that affects the normal function of the lymphatic system. The lymphatic system consists of a network of vessels that transport lymphatic fluid and immune cells throughout the body. Meige disease is characterized by the abnormal transport of lymphatic fluid. When this fluid builds up abnormally, it causes swelling (lymphedema) in the lower limbs.  Meige disease is classified as a primary lymphedema, which means it is a form of lymphedema that is not caused by other health conditions. In Meige disease, the lymphatic system abnormalities are present from birth (congenital), although the swelling is not usually apparent until puberty. The swelling often begins in the feet and ankles and progresses up the legs to the knees. Some affected individuals develop non-contagious skin infections called cellulitis or erysipelas in the legs, which can further damage the vessels that carry lymphatic fluid.
Meige disease appears to have an autosomal dominant pattern of inheritance. Autosomal dominant inheritance means one copy of an altered gene in each cell is sufficient to cause the disorder, although no genes have been associated with Meige disease.  People with Meige disease usually have at least one other affected family member. In most cases, an affected person has one parent with the condition. When the condition occurs in only one person in a family, the condition is described as Meige-like disease.
Hand-foot-genital syndrome is a rare condition that affects the development of the hands and feet, the urinary tract, and the reproductive system. People with this condition have abnormally short thumbs and first (big) toes, small fifth fingers that curve inward (clinodactyly), short feet, and fusion or delayed hardening of bones in the wrists and ankles. The other bones in the arms and legs are normal.  Abnormalities of the genitals and urinary tract can vary among affected individuals. Many people with hand-foot-genital syndrome have defects in the ureters, which are tubes that carry urine from each kidney to the bladder, or in the urethra, which carries urine from the bladder to the outside of the body. Recurrent urinary tract infections and an inability to control the flow of urine (urinary incontinence) have been reported. About half of males with this disorder have the urethra opening on the underside of the penis (hypospadias).  People with hand-foot-genital syndrome are usually able to have children (fertile). In some affected females, problems in the early development of the uterus can later increase the risk of pregnancy loss, premature labor, and stillbirth.