sarnsrun/medquad huggingface dataset:
Topic: 7q11.23 duplication syndrome
Question: What are the genetic changes related to 7q11.23 duplication syndrome ?
Answer: 7q11.23 duplication syndrome results from an extra copy of a region on the long (q) arm of chromosome 7 in each cell. This region is called the Williams-Beuren syndrome critical region (WBSCR) because its deletion causes a different disorder called Williams syndrome, also known as Williams-Beuren syndrome. The region, which is 1.5 to 1.8 million DNA base pairs (Mb) in length, includes 26 to 28 genes.  Extra copies of several of the genes in the duplicated region, including the ELN and GTF2I genes, likely contribute to the characteristic features of 7q11.23 duplication syndrome. Researchers suggest that an extra copy of the ELN gene in each cell may be related to the increased risk for aortic dilatation in 7q11.23 duplication syndrome. Studies suggest that an extra copy of the GTF2I gene may be associated with some of the behavioral features of the disorder. However, the specific causes of these features are unclear.  Researchers are studying additional genes in the duplicated region, but none have been definitely linked to any of the specific signs or symptoms of 7q11.23 duplication syndrome.
Source: GHR
Topic: 7q11.23 duplication syndrome
Question: Is 7q11.23 duplication syndrome inherited ?
Answer: 7q11.23 duplication syndrome is considered to be an autosomal dominant condition, which means one copy of chromosome 7 with the duplication in each cell is sufficient to cause the disorder. Most cases result from a duplication that occurs during the formation of reproductive cells (eggs and sperm) or in early fetal development. These cases occur in people with no history of the disorder in their family. Less commonly, an affected person inherits the chromosome with a duplicated segment from a parent.
Source: GHR
Topic: 7q11.23 duplication syndrome
Question: What are the treatments for 7q11.23 duplication syndrome ?
Answer: These resources address the diagnosis or management of 7q11.23 duplication syndrome:  - Cardiff University (United Kingdom): Copy Number Variant Research  - Gene Review: Gene Review: 7q11.23 Duplication Syndrome  - Genetic Testing Registry: Williams-Beuren region duplication syndrome  - University of Antwerp (Belgium): 7q11.23 Research Project  - University of Louisville: 7q11.23 Duplication Syndrome Research  - University of Toronto: 7q11.23 Duplication Syndrome Research   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
Source: GHR
Topic: 22q11.2 deletion syndrome
Question: What is (are) 22q11.2 deletion syndrome ?
Answer: 22q11.2 deletion syndrome (which is also known by several other names, listed below) is a disorder caused by the deletion of a small piece of chromosome 22. The deletion occurs near the middle of the chromosome at a location designated q11.2.  22q11.2 deletion syndrome has many possible signs and symptoms that can affect almost any part of the body. The features of this syndrome vary widely, even among affected members of the same family. Common signs and symptoms include heart abnormalities that are often present from birth, an opening in the roof of the mouth (a cleft palate), and distinctive facial features. People with 22q11.2 deletion syndrome often experience recurrent infections caused by problems with the immune system, and some develop autoimmune disorders such as rheumatoid arthritis and Graves disease in which the immune system attacks the body's own tissues and organs. Affected individuals may also have breathing problems, kidney abnormalities, low levels of calcium in the blood (which can result in seizures), a decrease in blood platelets (thrombocytopenia), significant feeding difficulties, gastrointestinal problems, and hearing loss. Skeletal differences are possible, including mild short stature and, less frequently, abnormalities of the spinal bones.  Many children with 22q11.2 deletion syndrome have developmental delays, including delayed growth and speech development, and learning disabilities. Later in life, they are at an increased risk of developing mental illnesses such as schizophrenia, depression, anxiety, and bipolar disorder. Additionally, affected children are more likely than children without 22q11.2 deletion syndrome to have attention deficit hyperactivity disorder (ADHD) and developmental conditions such as autism spectrum disorders that affect communication and social interaction.  Because the signs and symptoms of 22q11.2 deletion syndrome are so varied, different groupings of features were once described as separate conditions. Doctors named these conditions DiGeorge syndrome, velocardiofacial syndrome (also called Shprintzen syndrome), and conotruncal anomaly face syndrome. In addition, some children with the 22q11.2 deletion were diagnosed with the autosomal dominant form of Opitz G/BBB syndrome and Cayler cardiofacial syndrome. Once the genetic basis for these disorders was identified, doctors determined that they were all part of a single syndrome with many possible signs and symptoms. To avoid confusion, this condition is usually called 22q11.2 deletion syndrome, a description based on its underlying genetic cause.
Source: GHR
Topic: 22q11.2 deletion syndrome
Question: How many people are affected by 22q11.2 deletion syndrome ?
Answer: 22q11.2 deletion syndrome affects an estimated 1 in 4,000 people. However, the condition may actually be more common than this estimate because doctors and researchers suspect it is underdiagnosed due to its variable features. The condition may not be identified in people with mild signs and symptoms, or it may be mistaken for other disorders with overlapping features.
Source: GHR
Topic: 22q11.2 deletion syndrome
Question: What are the genetic changes related to 22q11.2 deletion syndrome ?
Answer: Most people with 22q11.2 deletion syndrome are missing a sequence of about 3 million DNA building blocks (base pairs) on one copy of chromosome 22 in each cell. This region contains 30 to 40 genes, many of which have not been well characterized. A small percentage of affected individuals have shorter deletions in the same region. This condition is described as a contiguous gene deletion syndrome because it results from the loss of many genes that are close together.  Researchers are working to identify all of the genes that contribute to the features of 22q11.2 deletion syndrome. They have determined that the loss of a particular gene on chromosome 22, TBX1, is probably responsible for many of the syndrome's characteristic signs (such as heart defects, a cleft palate, distinctive facial features, hearing loss, and low calcium levels). Some studies suggest that a deletion of this gene may contribute to behavioral problems as well. The loss of another gene, COMT, in the same region of chromosome 22 may also help explain the increased risk of behavioral problems and mental illness. The loss of additional genes in the deleted region likely contributes to the varied features of 22q11.2 deletion syndrome.
Source: GHR
Topic: 22q11.2 deletion syndrome
Question: Is 22q11.2 deletion syndrome inherited ?
Answer: The inheritance of 22q11.2 deletion syndrome is considered autosomal dominant because a deletion in one copy of chromosome 22 in each cell is sufficient to cause the condition. Most cases of 22q11.2 deletion syndrome are not inherited, however. The deletion occurs most often as a random event during the formation of reproductive cells (eggs or sperm) or in early fetal development. Affected people typically have no history of the disorder in their family, though they can pass the condition to their children. In about 10 percent of cases, a person with this condition inherits the deletion in chromosome 22 from a parent. In inherited cases, other family members may be affected as well.
Source: GHR
Topic: 22q11.2 deletion syndrome
Question: What are the treatments for 22q11.2 deletion syndrome ?
Answer: These resources address the diagnosis or management of 22q11.2 deletion syndrome:  - Gene Review: Gene Review: 22q11.2 Deletion Syndrome  - Genetic Testing Registry: Asymmetric crying face association  - Genetic Testing Registry: DiGeorge sequence  - Genetic Testing Registry: Opitz G/BBB syndrome  - Genetic Testing Registry: Shprintzen 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
Source: GHR
Topic: diastrophic dysplasia
Question: What is (are) diastrophic dysplasia ?
Answer: Diastrophic dysplasia is a disorder of cartilage and bone development. Affected individuals have short stature with very short arms and legs. Most also have early-onset joint pain (osteoarthritis) and joint deformities called contractures, which restrict movement. These joint problems often make it difficult to walk and tend to worsen with age. Additional features of diastrophic dysplasia include an inward- and upward-turning foot (clubfoot), progressive abnormal curvature of the spine, and unusually positioned thumbs (hitchhiker thumbs). About half of infants with diastrophic dysplasia are born with an opening in the roof of the mouth (a cleft palate). Swelling of the external ears is also common in newborns and can lead to thickened, deformed ears.  The signs and symptoms of diastrophic dysplasia are similar to those of another skeletal disorder called atelosteogenesis type 2; however, diastrophic dysplasia tends to be less severe. Although some affected infants have breathing problems, most people with diastrophic dysplasia live into adulthood.
Source: GHR
Topic: diastrophic dysplasia
Question: How many people are affected by diastrophic dysplasia ?
Answer: Although the exact incidence of this condition is unknown, researchers estimate that it affects about 1 in 100,000 newborns. Diastrophic dysplasia occurs in all populations but appears to be particularly common in Finland.
Source: GHR
Topic: diastrophic dysplasia
Question: What are the genetic changes related to diastrophic dysplasia ?
Answer: Diastrophic dysplasia is one of several skeletal disorders caused by mutations in the SLC26A2 gene. This gene provides instructions for making a protein that is essential for the normal development of cartilage and for its conversion to bone. Cartilage is a tough, flexible tissue that makes up much of the skeleton during early development. Most cartilage is later converted to bone, except for the cartilage that continues to cover and protect the ends of bones and is present in the nose and external ears. Mutations in the SLC26A2 gene alter the structure of developing cartilage, preventing bones from forming properly and resulting in the skeletal problems characteristic of diastrophic dysplasia.
Source: GHR
Topic: diastrophic dysplasia
Question: Is diastrophic dysplasia inherited ?
Answer: 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.
Source: GHR
Topic: diastrophic dysplasia
Question: What are the treatments for diastrophic dysplasia ?
Answer: These resources address the diagnosis or management of diastrophic dysplasia:  - Gene Review: Gene Review: Diastrophic Dysplasia  - Genetic Testing Registry: Diastrophic dysplasia   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
Source: GHR
Topic: congenital cataracts, facial dysmorphism, and neuropathy
Question: What is (are) congenital cataracts, facial dysmorphism, and neuropathy ?
Answer: Congenital cataracts, facial dysmorphism, and neuropathy (CCFDN) is a rare disorder that affects several parts of the body. It is characterized by a clouding of the lens of the eyes at birth (congenital cataracts) and other eye abnormalities, such as small or poorly developed eyes (microphthalmia) and abnormal eye movements (nystagmus). Affected individuals, particularly males, often have distinctive facial features that become more apparent as they reach adulthood. These features include a prominent midface, a large nose, protruding teeth, and a small lower jaw.  CCFDN causes progressive damage to the peripheral nerves, which connect the brain and spinal cord to muscles and sensory cells. This nerve damage is known as peripheral neuropathy. Weakness in the legs, followed by the arms, begins in the first few years of life, and as a result children with CCFDN have delayed development of motor skills such as standing and walking. In adolescence, affected individuals develop sensory abnormalities such as numbness and tingling, mainly in the legs. By adulthood they typically have significant difficulties with mobility. Muscle weakness can also lead to skeletal abnormalities such as hand and foot deformities and abnormal curvature of the spine.  People with CCFDN may have problems with balance and coordination (ataxia), tremors, and difficulty with movements that involve judging distance or scale (dysmetria). Some have mild intellectual disability. Individuals with CCFDN have short stature, are typically underweight, and have reduced bone density.  A complication called rhabdomyolysis occurs in some people with CCFDN, typically following a viral infection or, in rare cases, during or after surgery. Rhabdomyolysis is a breakdown of muscle tissue that results in severe muscle weakness. The destruction of muscle tissue releases a protein called myoglobin, which is processed by the kidneys and released in the urine (myoglobinuria). The presence of myoglobin causes the urine to be red or brown. The muscles may take up to a year to recover, and the episodes may worsen the muscle weakness caused by the neuropathy.
Source: GHR
Topic: congenital cataracts, facial dysmorphism, and neuropathy
Question: How many people are affected by congenital cataracts, facial dysmorphism, and neuropathy ?
Answer: The prevalence of CCFDN is unknown. The disorder has been identified in about 150 individuals of Romani ethnicity. Thus far, no affected individuals have been observed outside this community.
Source: GHR
Topic: congenital cataracts, facial dysmorphism, and neuropathy
Question: What are the genetic changes related to congenital cataracts, facial dysmorphism, and neuropathy ?
Answer: A mutation in the CTDP1 gene causes CCFDN. The CTDP1 gene provides instructions for making a protein called carboxy-terminal domain phosphatase 1. This protein helps regulate the process of transcription, which is a key step in using the information carried by genes to direct the production (synthesis) of proteins.  All known individuals with CCFDN have the same mutation in both copies of the CTDP1 gene in each cell. This mutation alters the way the gene's instructions are pieced together to produce the carboxy-terminal domain phosphatase 1 protein. The altered instructions introduce a premature stop signal, resulting in an abnormally short, nonfunctional protein that cannot regulate transcription. Defective regulation of the transcription process affects the development and function of many parts of the body. It is not known how nonfunctional carboxy-terminal domain phosphatase 1 protein results in the specific signs and symptoms of CCFDN.
Source: GHR
Topic: congenital cataracts, facial dysmorphism, and neuropathy
Question: Is congenital cataracts, facial dysmorphism, and neuropathy inherited ?
Answer: 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.
Source: GHR
Topic: congenital cataracts, facial dysmorphism, and neuropathy
Question: What are the treatments for congenital cataracts, facial dysmorphism, and neuropathy ?
Answer: These resources address the diagnosis or management of CCFDN:  - Gene Review: Gene Review: Congenital Cataracts, Facial Dysmorphism, and Neuropathy  - Genetic Testing Registry: Congenital Cataracts, Facial Dysmorphism, and Neuropathy  - MedlinePlus Encyclopedia: Congenital Cataract  - MedlinePlus Encyclopedia: Peripheral Neuropathy   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
Source: GHR
Topic: multiple mitochondrial dysfunctions syndrome
Question: What is (are) multiple mitochondrial dysfunctions syndrome ?
Answer: Multiple mitochondrial dysfunctions syndrome is characterized by impairment of cellular structures called mitochondria, which are the energy-producing centers of cells. While certain mitochondrial disorders are caused by impairment of a single stage of energy production, individuals with multiple mitochondrial dysfunctions syndrome have reduced function of more than one stage. The signs and symptoms of this severe condition begin early in life, and affected individuals usually do not live past infancy.  Affected infants typically have severe brain dysfunction (encephalopathy), which can contribute to weak muscle tone (hypotonia), seizures, and delayed development of mental and movement abilities (psychomotor delay). These infants often have difficulty growing and gaining weight at the expected rate (failure to thrive). Most affected babies have a buildup of a chemical called lactic acid in the body (lactic acidosis), which can be life-threatening. They may also have high levels of a molecule called glycine (hyperglycinemia) or elevated levels of sugar (hyperglycemia) in the blood. Some babies with multiple mitochondrial dysfunctions syndrome have high blood pressure in the blood vessels that connect to the lungs (pulmonary hypertension) or weakening of the heart muscle (cardiomyopathy).
Source: GHR
Topic: multiple mitochondrial dysfunctions syndrome
Question: How many people are affected by multiple mitochondrial dysfunctions syndrome ?
Answer: Multiple mitochondrial dysfunctions syndrome is a rare condition; its prevalence is unknown. It is one of several conditions classified as mitochondrial disorders, which affect an estimated 1 in 5,000 people worldwide.
Source: GHR
Topic: multiple mitochondrial dysfunctions syndrome
Question: What are the genetic changes related to multiple mitochondrial dysfunctions syndrome ?
Answer: Multiple mitochondrial dysfunctions syndrome can be caused by mutations in the NFU1 or BOLA3 gene. The proteins produced from each of these genes appear to be involved in the formation of molecules called iron-sulfur (Fe-S) clusters or in the attachment of these clusters to other proteins. Certain proteins require attachment of Fe-S clusters to function properly.  The NFU-1 and BOLA3 proteins play an important role in mitochondria. In these structures, several proteins carry out a series of chemical steps to convert the energy in food into a form that cells can use. Many of the proteins involved in these steps require Fe-S clusters to function, including protein complexes called complex I, complex II, and complex III.  Fe-S clusters are also required for another mitochondrial protein to function; this protein is involved in the modification of additional proteins that aid in energy production in mitochondria, including the pyruvate dehydrogenase complex and the alpha-ketoglutarate dehydrogenase complex (also known as the oxoglutarate dehydrogenase complex). This modification is also critical to the function of the glycine cleavage system, a set of proteins that breaks down a protein building block (amino acid) called glycine when levels become too high.  Mutations in the NFU1 or BOLA3 gene reduce or eliminate production of the respective protein, which impairs Fe-S cluster formation. Consequently, proteins affected by the presence of Fe-S clusters, including those involved in energy production and glycine breakdown, cannot function normally. Reduced activity of complex I, II, or III, pyruvate dehydrogenase, or alpha-ketoglutarate dehydrogenase leads to potentially fatal lactic acidosis, encephalopathy, and other signs and symptoms of multiple mitochondrial dysfunctions syndrome. In some affected individuals, impairment of the glycine cleavage system leads to a buildup of glycine.
Source: GHR
Topic: multiple mitochondrial dysfunctions syndrome
Question: Is multiple mitochondrial dysfunctions syndrome inherited ?
Answer: 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.
Source: GHR
Topic: multiple mitochondrial dysfunctions syndrome
Question: What are the treatments for multiple mitochondrial dysfunctions syndrome ?
Answer: These resources address the diagnosis or management of multiple mitochondrial dysfunctions syndrome:  - Gene Review: Gene Review: Mitochondrial Disorders Overview  - Genetic Testing Registry: Multiple mitochondrial dysfunctions syndrome 1  - Genetic Testing Registry: Multiple mitochondrial dysfunctions syndrome 2  - Genetic Testing Registry: Multiple mitochondrial dysfunctions syndrome 3   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
Source: GHR
Topic: Dowling-Degos disease
Question: What is (are) Dowling-Degos disease ?
Answer: Dowling-Degos disease is a skin condition characterized by a lacy or net-like (reticulate) pattern of abnormally dark skin coloring (hyperpigmentation), particularly in the body's folds and creases. These skin changes typically first appear in the armpits and groin area and can later spread to other skin folds such as the crook of the elbow and back of the knee. Less commonly, pigmentation changes can also occur on the wrist, back of the hand, face, scalp, scrotum (in males), and vulva (in females). These areas of hyperpigmentation do not darken with exposure to sunlight and cause no health problems.  Individuals with Dowling-Degos disease may also have dark lesions on the face and back that resemble blackheads, red bumps around the mouth that resemble acne, or depressed or pitted scars on the face similar to acne scars but with no history of acne. Cysts within the hair follicle (pilar cysts) may develop, most commonly on the scalp. Rarely, affected individuals have patches of skin that are unusually light in color (hypopigmented).  The pigmentation changes characteristic of Dowling-Degos disease typically begin in late childhood or in adolescence, although in some individuals, features of the condition do not appear until adulthood. New areas of hyperpigmentation tend to develop over time, and the other skin lesions tend to increase in number as well. While the skin changes caused by Dowling-Degos disease can be bothersome, they typically cause no health problems.  A condition called Galli-Galli disease has signs and symptoms similar to those of Dowling-Degos disease. In addition to pigmentation changes, individuals with Galli-Galli disease also have a breakdown of cells in the outer layer of skin (acantholysis). Acantholysis can cause skin irritation and itchiness. These conditions used to be considered two separate disorders, but Galli-Galli disease and Dowling-Degos disease are now regarded as the same condition.
Source: GHR
Topic: Dowling-Degos disease
Question: How many people are affected by Dowling-Degos disease ?
Answer: Dowling-Degos disease appears to be a rare condition, although its prevalence is unknown.
Source: GHR