problem stringlengths 16 191 | explanation stringlengths 6 29k ⌀ | type stringlengths 3 136 ⌀ |
|---|---|---|
What is (are) myotonic dystrophy ? | Myotonic dystrophy is part of a group of inherited disorders called muscular dystrophies. It is the most common form of muscular dystrophy that begins in adulthood. Myotonic dystrophy is characterized by progressive muscle wasting and weakness. People with this disorder often have prolonged muscle contractions (myoton... | myotonic dystrophy |
How many people are affected by myotonic dystrophy ? | Myotonic dystrophy affects at least 1 in 8,000 people worldwide. The prevalence of the two types of myotonic dystrophy varies among different geographic and ethnic populations. In most populations, type 1 appears to be more common than type 2. However, recent studies suggest that type 2 may be as common as type 1 among... | myotonic dystrophy |
What are the genetic changes related to myotonic dystrophy ? | Myotonic dystrophy type 1 is caused by mutations in the DMPK gene, while type 2 results from mutations in the CNBP gene. The specific functions of these genes are unclear. The protein produced from the DMPK gene may play a role in communication within cells. It appears to be important for the correct functioning of cel... | myotonic dystrophy |
Is myotonic dystrophy inherited ? | Both types of myotonic dystrophy are inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In most cases, an affected person has one parent with the condition. As myotonic dystrophy is passed from one generation to the next, the disorder ... | myotonic dystrophy |
What are the treatments for myotonic dystrophy ? | These resources address the diagnosis or management of myotonic dystrophy: - Gene Review: Gene Review: Myotonic Dystrophy Type 1 - Gene Review: Gene Review: Myotonic Dystrophy Type 2 - Genetic Testing Registry: Myotonic dystrophy type 2 - Genetic Testing Registry: Steinert myotonic dystrophy syndrome - MedlinePlus... | myotonic dystrophy |
What is (are) pseudoxanthoma elasticum ? | Pseudoxanthoma elasticum (PXE) is a progressive disorder that is characterized by the accumulation of deposits of calcium and other minerals (mineralization) in elastic fibers. Elastic fibers are a component of connective tissue, which provides strength and flexibility to structures throughout the body. In PXE, minera... | pseudoxanthoma elasticum |
How many people are affected by pseudoxanthoma elasticum ? | PXE affects approximately 1 in 50,000 people worldwide. For reasons that are unclear, this disorder is diagnosed twice as frequently in females as in males. | pseudoxanthoma elasticum |
What are the genetic changes related to pseudoxanthoma elasticum ? | Mutations in the ABCC6 gene cause PXE. This gene provides instructions for making a protein called MRP6 (also known as the ABCC6 protein). This protein is found primarily in cells of the liver and kidneys, with small amounts in other tissues, including the skin, stomach, blood vessels, and eyes. MRP6 is thought to tran... | pseudoxanthoma elasticum |
Is pseudoxanthoma elasticum inherited ? | PXE is inherited in an autosomal recessive manner, which means both copies of the gene in each cell have mutations. Most often, the parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but do not show signs and symptoms of the condition. In a few cases, an affected in... | pseudoxanthoma elasticum |
What are the treatments for pseudoxanthoma elasticum ? | These resources address the diagnosis or management of pseudoxanthoma elasticum: - Gene Review: Gene Review: Pseudoxanthoma Elasticum - Genetic Testing Registry: Pseudoxanthoma elasticum These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic... | pseudoxanthoma elasticum |
What is (are) myotonia congenita ? | Myotonia congenita is a disorder that affects muscles used for movement (skeletal muscles). Beginning in childhood, people with this condition experience bouts of sustained muscle tensing (myotonia) that prevent muscles from relaxing normally. Although myotonia can affect any skeletal muscles, including muscles of the ... | myotonia congenita |
How many people are affected by myotonia congenita ? | Myotonia congenita is estimated to affect 1 in 100,000 people worldwide. This condition is more common in northern Scandinavia, where it occurs in approximately 1 in 10,000 people. | myotonia congenita |
What are the genetic changes related to myotonia congenita ? | Mutations in the CLCN1 gene cause myotonia congenita. The CLCN1 gene provides instructions for making a protein that is critical for the normal function of skeletal muscle cells. For the body to move normally, skeletal muscles must tense (contract) and relax in a coordinated way. Muscle contraction and relaxation are ... | myotonia congenita |
Is myotonia congenita inherited ? | The two forms of myotonia congenita have different patterns of inheritance. Thomsen disease is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In most cases, an affected person has one parent with the condition. Becker disease is in... | myotonia congenita |
What are the treatments for myotonia congenita ? | These resources address the diagnosis or management of myotonia congenita: - Gene Review: Gene Review: Myotonia Congenita - Genetic Testing Registry: Congenital myotonia, autosomal dominant form - Genetic Testing Registry: Congenital myotonia, autosomal recessive form - Genetic Testing Registry: Myotonia congenita ... | myotonia congenita |
What is (are) core binding factor acute myeloid leukemia ? | Core binding factor acute myeloid leukemia (CBF-AML) is one form of a cancer of the blood-forming tissue (bone marrow) called acute myeloid leukemia. In normal bone marrow, early blood cells called hematopoietic stem cells develop into several types of blood cells: white blood cells (leukocytes) that protect the body f... | core binding factor acute myeloid leukemia |
How many people are affected by core binding factor acute myeloid leukemia ? | Acute myeloid leukemia occurs in approximately 3.5 per 100,000 individuals each year. CBF-AML accounts for 12 to 15 percent of acute myeloid leukemia cases in adults. | core binding factor acute myeloid leukemia |
What are the genetic changes related to core binding factor acute myeloid leukemia ? | CBF-AML is associated with chromosomal rearrangements between chromosomes 8 and 21 and within chromosome 16. The rearrangements involve the RUNX1, RUNX1T1, CBFB, and MYH11 genes. Two of these genes, RUNX1 and CBFB, provide instructions for making the two pieces of a protein complex known as core binding factor (CBF). C... | core binding factor acute myeloid leukemia |
Is core binding factor acute myeloid leukemia inherited ? | CBF-AML is not inherited but arises from genetic rearrangements in the body's cells that occur after conception. | core binding factor acute myeloid leukemia |
What are the treatments for core binding factor acute myeloid leukemia ? | These resources address the diagnosis or management of core binding factor acute myeloid leukemia: - Fred Hutchinson Cancer Research Center - Genetic Testing Registry: Acute myeloid leukemia - National Cancer Institute: Acute Myeloid Leukemia Treatment - St. Jude Children's Research Hospital These resources from ... | core binding factor acute myeloid leukemia |
What is (are) gnathodiaphyseal dysplasia ? | Gnathodiaphyseal dysplasia is a disorder that affects the bones. People with this condition have reduced bone mineral density (osteopenia), which causes the bones to be unusually fragile. As a result, affected individuals typically experience multiple bone fractures in childhood, often from mild trauma or with no appar... | gnathodiaphyseal dysplasia |
How many people are affected by gnathodiaphyseal dysplasia ? | The prevalence of gnathodiaphyseal dysplasia is unknown, but it is thought to be a rare disorder. A few affected individuals and families have been described in the medical literature. | gnathodiaphyseal dysplasia |
What are the genetic changes related to gnathodiaphyseal dysplasia ? | Gnathodiaphyseal dysplasia is caused by mutations in the ANO5 gene, which provides instructions for making a protein called anoctamin-5. While the specific function of this protein is not well understood, it belongs to a family of proteins, called anoctamins, that act as chloride channels. Studies suggest that most ano... | gnathodiaphyseal dysplasia |
Is gnathodiaphyseal dysplasia inherited ? | This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In some cases, an affected person inherits the mutation from one affected parent. Other cases result from new mutations in the gene and occur in people with no histor... | gnathodiaphyseal dysplasia |
What are the treatments for gnathodiaphyseal dysplasia ? | These resources address the diagnosis or management of gnathodiaphyseal dysplasia: - Cleveland Clinic: Osteomyelitis - MedlinePlus Encyclopedia: Bone Mineral Density Testing These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Dru... | gnathodiaphyseal dysplasia |
What is (are) Adams-Oliver syndrome ? | Adams-Oliver syndrome is a rare condition that is present at birth. The primary features are an abnormality in skin development (called aplasia cutis congenita) and malformations of the limbs. A variety of other features can occur in people with Adams-Oliver syndrome. Most people with Adams-Oliver syndrome have aplasi... | Adams-Oliver syndrome |
How many people are affected by Adams-Oliver syndrome ? | Adams-Oliver syndrome is a rare disorder; its prevalence is unknown. | Adams-Oliver syndrome |
What are the genetic changes related to Adams-Oliver syndrome ? | Mutations in the ARHGAP31, DLL4, DOCK6, EOGT, NOTCH1, or RBPJ gene can cause Adams-Oliver syndrome. Because some affected individuals do not have mutations in one of these genes, it is likely that other genes that have not been identified are also involved in this condition. Each of the known genes plays an important r... | Adams-Oliver syndrome |
Is Adams-Oliver syndrome inherited ? | Adams-Oliver syndrome can have different inheritance patterns. When caused by mutations in the ARHGAP31, DLL4, NOTCH1, or RBPJ gene, the condition is inherited in an autosomal dominant pattern. Autosomal dominant inheritance means that one copy of the altered gene in each cell is sufficient to cause the disorder. The a... | Adams-Oliver syndrome |
What are the treatments for Adams-Oliver syndrome ? | These resources address the diagnosis or management of Adams-Oliver syndrome: - Contact a Family - Gene Review: Gene Review: Adams-Oliver Syndrome - Genetic Testing Registry: Adams-Oliver syndrome - Genetic Testing Registry: Adams-Oliver syndrome 5 - Genetic Testing Registry: Adams-Oliver syndrome 6 These resour... | Adams-Oliver syndrome |
What is (are) Beckwith-Wiedemann syndrome ? | Beckwith-Wiedemann syndrome is a condition that affects many parts of the body. It is classified as an overgrowth syndrome, which means that affected infants are considerably larger than normal (macrosomia) and tend to be taller than their peers during childhood. Growth begins to slow by about age 8, and adults with th... | Beckwith-Wiedemann syndrome |
How many people are affected by Beckwith-Wiedemann syndrome ? | Beckwith-Wiedemann syndrome affects an estimated 1 in 13,700 newborns worldwide. The condition may actually be more common than this estimate because some people with mild symptoms are never diagnosed. | Beckwith-Wiedemann syndrome |
What are the genetic changes related to Beckwith-Wiedemann syndrome ? | The genetic causes of Beckwith-Wiedemann syndrome are complex. The condition usually results from the abnormal regulation of genes in a particular region of chromosome 11. People normally inherit one copy of this chromosome from each parent. For most genes on chromosome 11, both copies of the gene are expressed, or "tu... | Beckwith-Wiedemann syndrome |
Is Beckwith-Wiedemann syndrome inherited ? | In about 85 percent of cases of Beckwith-Wiedemann syndrome, only one person in a family has been diagnosed with the condition. However, parents of one child with Beckwith-Wiedemann syndrome may be at risk of having other children with the disorder. This risk depends on the genetic cause of the condition. Another 10 t... | Beckwith-Wiedemann syndrome |
What are the treatments for Beckwith-Wiedemann syndrome ? | These resources address the diagnosis or management of Beckwith-Wiedemann syndrome: - Gene Review: Gene Review: Beckwith-Wiedemann Syndrome - Genetic Testing Registry: Beckwith-Wiedemann syndrome - MedlinePlus Encyclopedia: Beckwith-Wiedemann syndrome - MedlinePlus Encyclopedia: Macroglossia - MedlinePlus Encyclop... | Beckwith-Wiedemann syndrome |
What is (are) otospondylomegaepiphyseal dysplasia ? | Otospondylomegaepiphyseal dysplasia (OSMED) is a skeletal disorder characterized by skeletal abnormalities, distinctive facial features, and severe hearing loss. The condition involves the ears (oto-), affects the bones of the spine (spondylo-), and enlarges the ends (epiphyses) of long bones in the arms and legs. The ... | otospondylomegaepiphyseal dysplasia |
How many people are affected by otospondylomegaepiphyseal dysplasia ? | This condition is rare; the prevalence is unknown. Only a few families with OSMED have been reported worldwide. | otospondylomegaepiphyseal dysplasia |
What are the genetic changes related to otospondylomegaepiphyseal dysplasia ? | Mutations in the COL11A2 gene cause OSMED. The COL11A2 gene is one of several genes that provide instructions for the production of type XI collagen. This type of collagen is important for the normal development of bones and other connective tissues that form the body's supportive framework. Mutations in the COL11A2 ge... | otospondylomegaepiphyseal dysplasia |
Is otospondylomegaepiphyseal dysplasia inherited ? | This condition is inherited in an autosomal recessive pattern, which means both copies of the 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. | otospondylomegaepiphyseal dysplasia |
What are the treatments for otospondylomegaepiphyseal dysplasia ? | These resources address the diagnosis or management of OSMED: - Genetic Testing Registry: Otospondylomegaepiphyseal dysplasia These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Geneti... | otospondylomegaepiphyseal dysplasia |
What is (are) pseudohypoaldosteronism type 2 ? | Pseudohypoaldosteronism type 2 (PHA2) is caused by problems that affect regulation of the amount of sodium and potassium in the body. Sodium and potassium are important in the control of blood pressure, and their regulation occurs primarily in the kidneys. People with PHA2 have high blood pressure (hypertension) and h... | pseudohypoaldosteronism type 2 |
How many people are affected by pseudohypoaldosteronism type 2 ? | PHA2 is a rare condition; however, the prevalence is unknown. | pseudohypoaldosteronism type 2 |
What are the genetic changes related to pseudohypoaldosteronism type 2 ? | PHA2 can be caused by mutations in the WNK1, WNK4, CUL3, or KLHL3 gene. These genes play a role in the regulation of blood pressure. The proteins produced from the WNK1 and WNK4 genes help control the amount of sodium and potassium in the body by regulating channels in the cell membrane that control the transport of s... | pseudohypoaldosteronism type 2 |
Is pseudohypoaldosteronism type 2 inherited ? | This condition is usually inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In most cases caused by mutations in the WNK1, WNK4, or KLHL3 gene, an affected person inherits the mutation from one affected parent. While some cases caused ... | pseudohypoaldosteronism type 2 |
What are the treatments for pseudohypoaldosteronism type 2 ? | These resources address the diagnosis or management of pseudohypoaldosteronism type 2: - Gene Review: Gene Review: Pseudohypoaldosteronism Type II - Genetic Testing Registry: Pseudohypoaldosteronism, type 2 These resources from MedlinePlus offer information about the diagnosis and management of various health condi... | pseudohypoaldosteronism type 2 |
What is (are) Lennox-Gastaut syndrome ? | Lennox-Gastaut syndrome is a form of severe epilepsy that begins in childhood. It is characterized by multiple types of seizures and intellectual disability. People with Lennox-Gastaut syndrome begin having frequent seizures in early childhood, usually between ages 3 and 5. More than three-quarters of affected individ... | Lennox-Gastaut syndrome |
How many people are affected by Lennox-Gastaut syndrome ? | Lennox-Gastaut syndrome affects an estimated 1 in 50,000 to 1 in 100,000 children. This condition accounts for about 4 percent of all cases of childhood epilepsy. For unknown reasons, it appears to be more common in males than in females. | Lennox-Gastaut syndrome |
What are the genetic changes related to Lennox-Gastaut syndrome ? | Researchers have not identified any genes specific to Lennox-Gastaut syndrome, although the disorder likely has a genetic component. About two-thirds of cases are described as symptomatic, which means that they are related to an existing neurological problem. Symptomatic Lennox-Gastaut syndrome can be associated with b... | Lennox-Gastaut syndrome |
Is Lennox-Gastaut syndrome inherited ? | Most cases of Lennox-Gastaut syndrome are sporadic, which means they occur in people with no history of the disorder in their family. However, 3 to 30 percent of people with this condition have a family history of some type of epilepsy. People with the cryptogenic form of Lennox-Gastaut syndrome are more likely than pe... | Lennox-Gastaut syndrome |
What are the treatments for Lennox-Gastaut syndrome ? | These resources address the diagnosis or management of Lennox-Gastaut syndrome: - Cleveland Clinic - Genetic Testing Registry: Epileptic encephalopathy Lennox-Gastaut type - National Institute of Neurological Disorders and Stroke: Diagnosis and Treatment of Epilepsy - News Release: FDA Approves New Drug to Treat Se... | Lennox-Gastaut syndrome |
What is (are) Christianson syndrome ? | Christianson syndrome is a disorder that primarily affects the nervous system. This condition becomes apparent in infancy. Its characteristic features include delayed development, intellectual disability, an inability to speak, problems with balance and coordination (ataxia), and difficulty standing or walking. Individ... | Christianson syndrome |
How many people are affected by Christianson syndrome ? | Christianson syndrome is a rare condition, although the exact prevalence is unknown. The condition was first described in a South African family and has since been found people in other parts of the world. | Christianson syndrome |
What are the genetic changes related to Christianson syndrome ? | Christianson syndrome is caused by mutations in the SLC9A6 gene, which provides instructions for making a protein called sodium/hydrogen exchanger 6 (Na+/H+ exchanger 6 or NHE6). The NHE6 protein is found in the membrane surrounding endosomes, which are compartments within cells that recycle proteins and other material... | Christianson syndrome |
Is Christianson syndrome inherited ? | This condition is inherited in an X-linked recessive pattern. The gene associated with this condition 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 t... | Christianson syndrome |
What are the treatments for Christianson syndrome ? | These resources address the diagnosis or management of Christianson syndrome: - Genetic Testing Registry: Christianson syndrome - MedlinePlus Encyclopedia: Seizures These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy... | Christianson syndrome |
What is (are) Meier-Gorlin syndrome ? | Meier-Gorlin syndrome is a condition primarily characterized by short stature. It is considered a form of primordial dwarfism because the growth problems begin before birth (intrauterine growth retardation). After birth, affected individuals continue to grow at a slow rate. Other characteristic features of this conditi... | Meier-Gorlin syndrome |
How many people are affected by Meier-Gorlin syndrome ? | Meier-Gorlin syndrome is a rare condition; however, its prevalence is unknown. | Meier-Gorlin syndrome |
What are the genetic changes related to Meier-Gorlin syndrome ? | Meier-Gorlin syndrome can be caused by mutations in one of several genes. Each of these genes, ORC1, ORC4, ORC6, CDT1, and CDC6, provides instructions for making one of a group of proteins known as the pre-replication complex. This complex regulates initiation of the copying (replication) of DNA before cells divide. Sp... | Meier-Gorlin syndrome |
Is Meier-Gorlin syndrome inherited ? | This condition is inherited in an autosomal recessive pattern, which means both copies of the 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. | Meier-Gorlin syndrome |
What are the treatments for Meier-Gorlin syndrome ? | These resources address the diagnosis or management of Meier-Gorlin syndrome: - Genetic Testing Registry: Meier-Gorlin syndrome - Genetic Testing Registry: Meier-Gorlin syndrome 2 - Genetic Testing Registry: Meier-Gorlin syndrome 3 - Genetic Testing Registry: Meier-Gorlin syndrome 4 - Genetic Testing Registry: Mei... | Meier-Gorlin syndrome |
What is (are) myoclonus-dystonia ? | Myoclonus-dystonia is a movement disorder that typically affects the upper half of the body. Individuals with this condition experience quick, involuntary muscle jerking or twitching (myoclonus) that usually affects their arms, neck, and trunk. Less frequently, the legs are involved as well. More than half of affected ... | myoclonus-dystonia |
How many people are affected by myoclonus-dystonia ? | The prevalence of myoclonus-dystonia is unknown. This condition has been described in people worldwide. | myoclonus-dystonia |
What are the genetic changes related to myoclonus-dystonia ? | Mutations in the SGCE gene cause myoclonus-dystonia. The SGCE gene provides instructions for making a protein called epsilon ()-sarcoglycan, whose function is unknown. The -sarcoglycan protein is located within the cell membranes of many tissues, but it is most abundant in nerve cells (neurons) in the brain and in musc... | myoclonus-dystonia |
Is myoclonus-dystonia inherited ? | Myoclonus-dystonia is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. People normally inherit one copy of each gene from their mother and one copy from their father. For most genes, both copies are active, or "turned on," in all cel... | myoclonus-dystonia |
What are the treatments for myoclonus-dystonia ? | These resources address the diagnosis or management of myoclonus-dystonia: - Gene Review: Gene Review: Myoclonus-Dystonia - Genetic Testing Registry: Myoclonic dystonia These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug The... | myoclonus-dystonia |
What is (are) 15q13.3 microdeletion ? | 15q13.3 microdeletion is a chromosomal change in which a small piece of chromosome 15 is deleted in each cell. The deletion occurs on the long (q) arm of the chromosome at a position designated q13.3. This chromosomal change increases the risk of intellectual disability, seizures, behavioral problems, and psychiatric d... | 15q13.3 microdeletion |
How many people are affected by 15q13.3 microdeletion ? | 15q13.3 microdeletion likely occurs in about 1 in 40,000 people in the general population. It appears to be more common in people with intellectual disability, epilepsy, schizophrenia, or autism spectrum disorders. | 15q13.3 microdeletion |
What are the genetic changes related to 15q13.3 microdeletion ? | Most people with a 15q13.3 microdeletion are missing a sequence of about 2 million DNA building blocks (base pairs), also written as 2 megabases (Mb), at position q13.3 on chromosome 15. The exact size of the deleted region varies, but it typically contains at least six genes. This deletion usually affects one of the t... | 15q13.3 microdeletion |
Is 15q13.3 microdeletion inherited ? | 15q13.3 microdeletion is inherited in an autosomal dominant pattern, which means one copy of the deleted region on chromosome 15 in each cell is sufficient to increase the risk of intellectual disability and other characteristic features. In about 75 percent of cases, individuals with 15q13.3 microdeletion inherit the... | 15q13.3 microdeletion |
What are the treatments for 15q13.3 microdeletion ? | These resources address the diagnosis or management of 15q13.3 microdeletion: - Gene Review: Gene Review: 15q13.3 Microdeletion - Genetic Testing Registry: 15q13.3 microdeletion syndrome These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic... | 15q13.3 microdeletion |
What is (are) androgenetic alopecia ? | Androgenetic alopecia is a common form of hair loss in both men and women. In men, this condition is also known as male-pattern baldness. Hair is lost in a well-defined pattern, beginning above both temples. Over time, the hairline recedes to form a characteristic "M" shape. Hair also thins at the crown (near the top o... | androgenetic alopecia |
How many people are affected by androgenetic alopecia ? | Androgenetic alopecia is a frequent cause of hair loss in both men and women. This form of hair loss affects an estimated 50 million men and 30 million women in the United States. Androgenetic alopecia can start as early as a person's teens and risk increases with age; more than 50 percent of men over age 50 have some ... | androgenetic alopecia |
What are the genetic changes related to androgenetic alopecia ? | A variety of genetic and environmental factors likely play a role in causing androgenetic alopecia. Although researchers are studying risk factors that may contribute to this condition, most of these factors remain unknown. Researchers have determined that this form of hair loss is related to hormones called androgens,... | androgenetic alopecia |
Is androgenetic alopecia inherited ? | The inheritance pattern of androgenetic alopecia is unclear because many genetic and environmental factors are likely to be involved. This condition tends to cluster in families, however, and having a close relative with patterned hair loss appears to be a risk factor for developing the condition. | androgenetic alopecia |
What are the treatments for androgenetic alopecia ? | These resources address the diagnosis or management of androgenetic alopecia: - Genetic Testing Registry: Baldness, male pattern - MedlinePlus Encyclopedia: Female Pattern Baldness - MedlinePlus Encyclopedia: Hair Loss - MedlinePlus Encyclopedia: Male Pattern Baldness These resources from MedlinePlus offer inform... | androgenetic alopecia |
What is (are) Behet disease ? | Behet disease is an inflammatory condition that affects many parts of the body. The health problems associated with Behet disease result from widespread inflammation of blood vessels (vasculitis). This inflammation most commonly affects the mouth, genitals, skin, and eyes. Painful mouth sores called aphthous ulcers ar... | Behet disease |
How many people are affected by Behet disease ? | Behet disease is most common in Mediterranean countries, the Middle East, Japan, and other parts of Asia. However, it has been found in populations worldwide. The highest prevalence of Behet disease has been reported in Turkey, where the disorder affects up to 420 in 100,000 people. The disorder is much less common in... | Behet disease |
What are the genetic changes related to Behet disease ? | The cause of Behet disease is unknown. The condition probably results from a combination of genetic and environmental factors, most of which have not been identified. However, a particular variation in the HLA-B gene has been strongly associated with the risk of developing Behet disease. The HLA-B gene provides instru... | Behet disease |
Is Behet disease inherited ? | Most cases of Behet disease are sporadic, which means they occur in people with no history of the disorder in their family. A small percentage of all cases have been reported to run in families; however, the condition does not have a clear pattern of inheritance. | Behet disease |
What are the treatments for Behet disease ? | These resources address the diagnosis or management of Behet disease: - American Behcet's Disease Association: Diagnosis - American Behcet's Disease Association: Treatments - Genetic Testing Registry: Behcet's syndrome These resources from MedlinePlus offer information about the diagnosis and management of various... | Behet disease |
What is (are) juvenile primary osteoporosis ? | Juvenile primary osteoporosis is a skeletal disorder characterized by thinning of the bones (osteoporosis) that begins in childhood. Osteoporosis is caused by a shortage of calcium and other minerals in bones (decreased bone mineral density), which makes the bones brittle and prone to fracture. Affected individuals oft... | juvenile primary osteoporosis |
How many people are affected by juvenile primary osteoporosis ? | The prevalence of juvenile primary osteoporosis is unknown. Nearly 1 in 10 adults over age 50 have osteoporosis, but the condition is uncommon in children. Osteoporosis can occur at a young age as a feature of other conditions but rarely occurs without other signs and symptoms (primary osteoporosis). | juvenile primary osteoporosis |
What are the genetic changes related to juvenile primary osteoporosis ? | Mutations in the LRP5 gene can cause juvenile primary osteoporosis. This gene provides instructions for making a protein that participates in a chemical signaling pathway that affects the way cells and tissues develop. In particular, the LRP5 protein is involved in the regulation of bone mineral density. LRP5 gene mut... | juvenile primary osteoporosis |
Is juvenile primary osteoporosis inherited ? | This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. | juvenile primary osteoporosis |
What are the treatments for juvenile primary osteoporosis ? | These resources address the diagnosis or management of juvenile primary osteoporosis: - Lucile Packard Children's Hospital at Stanford: Juvenile Osteoporosis - MedlinePlus Encyclopedia: Bone Mineral Density Test - Merck Manual Home Health Edition: Osteoporosis These resources from MedlinePlus offer information abo... | juvenile primary osteoporosis |
What is (are) otopalatodigital syndrome type 2 ? | Otopalatodigital syndrome type 2 is a disorder involving abnormalities in skeletal development and other health problems. It is a member of a group of related conditions called otopalatodigital spectrum disorders, which also includes otopalatodigital syndrome type 1, frontometaphyseal dysplasia, and Melnick-Needles syn... | otopalatodigital syndrome type 2 |
How many people are affected by otopalatodigital syndrome type 2 ? | Otopalatodigital syndrome type 2 is a rare disorder, affecting fewer than 1 in every 100,000 individuals. Its specific incidence is unknown. | otopalatodigital syndrome type 2 |
What are the genetic changes related to otopalatodigital syndrome type 2 ? | Mutations in the FLNA gene cause otopalatodigital syndrome type 2. The FLNA gene provides instructions for producing the protein filamin A, which helps build the network of protein filaments (cytoskeleton) that gives structure to cells and allows them to change shape and move. Filamin A binds to another protein called... | otopalatodigital syndrome type 2 |
Is otopalatodigital syndrome type 2 inherited ? | 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 gene in each cell is sufficient to cause the disorder. In male... | otopalatodigital syndrome type 2 |
What are the treatments for otopalatodigital syndrome type 2 ? | These resources address the diagnosis or management of otopalatodigital syndrome type 2: - Gene Review: Gene Review: Otopalatodigital Spectrum Disorders - Genetic Testing Registry: Oto-palato-digital syndrome, type II These resources from MedlinePlus offer information about the diagnosis and management of various h... | otopalatodigital syndrome type 2 |
What is (are) desmoid tumor ? | A desmoid tumor is an abnormal growth that arises from connective tissue, which is the tissue that provides strength and flexibility to structures such as bones, ligaments, and muscles. Typically, a single tumor develops, although some people have multiple tumors. The tumors can occur anywhere in the body. Tumors that ... | desmoid tumor |
How many people are affected by desmoid tumor ? | Desmoid tumors are rare, affecting an estimated 1 to 2 per 500,000 people worldwide. In the United States, 900 to 1,500 new cases are diagnosed per year. Sporadic desmoid tumors are more common than those associated with familial adenomatous polyposis. | desmoid tumor |
What are the genetic changes related to desmoid tumor ? | Mutations in the CTNNB1 gene or the APC gene cause desmoid tumors. CTNNB1 gene mutations account for around 85 percent of sporadic desmoid tumors. APC gene mutations cause desmoid tumors associated with familial adenomatous polyposis as well as 10 to 15 percent of sporadic desmoid tumors. Both genes are involved in an ... | desmoid tumor |
Is desmoid tumor inherited ? | Most desmoid tumors are sporadic and are not inherited. Sporadic tumors result from gene mutations that occur during a person's lifetime, called somatic mutations. A somatic mutation in one copy of the gene is sufficient to cause the disorder. Somatic mutations in either the CTNNB1 or the APC gene can cause sporadic de... | desmoid tumor |
What are the treatments for desmoid tumor ? | These resources address the diagnosis or management of desmoid tumor: - Dana-Farber Cancer Institute - Desmoid Tumor Research Foundation: About Desmoid Tumors - Genetic Testing Registry: Desmoid disease, hereditary These resources from MedlinePlus offer information about the diagnosis and management of various hea... | desmoid tumor |
What is (are) Parkinson disease ? | Parkinson disease is a progressive disorder of the nervous system. The disorder affects several regions of the brain, especially an area called the substantia nigra that controls balance and movement. Often the first symptom of Parkinson disease is trembling or shaking (tremor) of a limb, especially when the body is a... | Parkinson disease |
How many people are affected by Parkinson disease ? | Parkinson disease affects more than 1 million people in North America and more than 4 million people worldwide. In the United States, Parkinson disease occurs in approximately 13 per 100,000 people, and about 60,000 new cases are identified each year. The late-onset form is the most common type of Parkinson disease, a... | Parkinson disease |
What are the genetic changes related to Parkinson disease ? | Most cases of Parkinson disease probably result from a complex interaction of environmental and genetic factors. These cases are classified as sporadic and occur in people with no apparent history of the disorder in their family. The cause of these sporadic cases remains unclear. Approximately 15 percent of people wit... | Parkinson disease |
Is Parkinson disease inherited ? | Most cases of Parkinson disease occur in people with no apparent family history of the disorder. These sporadic cases may not be inherited, or they may have an inheritance pattern that is unknown. Among familial cases of Parkinson disease, the inheritance pattern differs depending on the gene that is altered. If the L... | Parkinson disease |
What are the treatments for Parkinson disease ? | These resources address the diagnosis or management of Parkinson disease: - Gene Review: Gene Review: Parkinson Disease Overview - Genetic Testing Registry: Parkinson disease 1 - Genetic Testing Registry: Parkinson disease 10 - Genetic Testing Registry: Parkinson disease 11 - Genetic Testing Registry: Parkinson di... | Parkinson disease |
Subsets and Splits
No community queries yet
The top public SQL queries from the community will appear here once available.