falan42/medcuad_data huggingface dataset:
Topic: idiopathic pulmonary fibrosis
Question: What are the treatments for idiopathic pulmonary fibrosis ?
Answer: These resources address the diagnosis or management of idiopathic pulmonary fibrosis:  - Gene Review: Gene Review: Pulmonary Fibrosis, Familial  - Genetic Testing Registry: Idiopathic fibrosing alveolitis, chronic form   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: thanatophoric dysplasia
Question: What is (are) thanatophoric dysplasia ?
Answer: Thanatophoric dysplasia is a severe skeletal disorder characterized by extremely short limbs and folds of extra (redundant) skin on the arms and legs. Other features of this condition include a narrow chest, short ribs, underdeveloped lungs, and an enlarged head with a large forehead and prominent, wide-spaced eyes.  Researchers have described two major forms of thanatophoric dysplasia, type I and type II. Type I thanatophoric dysplasia is distinguished by the presence of curved thigh bones and flattened bones of the spine (platyspondyly). Type II thanatophoric dysplasia is characterized by straight thigh bones and a moderate to severe skull abnormality called a cloverleaf skull.  The term thanatophoric is Greek for "death bearing." Infants with thanatophoric dysplasia are usually stillborn or die shortly after birth from respiratory failure; however, a few affected individuals have survived into childhood with extensive medical help.
(Source: GHR)
Topic: thanatophoric dysplasia
Question: How many people are affected by thanatophoric dysplasia ?
Answer: This condition occurs in 1 in 20,000 to 50,000 newborns. Type I thanatophoric dysplasia is more common than type II.
(Source: GHR)
Topic: thanatophoric dysplasia
Question: What are the genetic changes related to thanatophoric dysplasia ?
Answer: Mutations in the FGFR3 gene cause thanatophoric dysplasia. Both types of this condition result from mutations in the FGFR3 gene. This gene provides instructions for making a protein that is involved in the development and maintenance of bone and brain tissue. Mutations in this gene cause the FGFR3 protein to be overly active, which leads to the severe disturbances in bone growth that are characteristic of thanatophoric dysplasia. It is not known how FGFR3 mutations cause the brain and skin abnormalities associated with this disorder.
(Source: GHR)
Topic: thanatophoric dysplasia
Question: Is thanatophoric dysplasia inherited ?
Answer: Thanatophoric dysplasia is considered an autosomal dominant disorder because one mutated copy of the FGFR3 gene in each cell is sufficient to cause the condition. Virtually all cases of thanatophoric dysplasia are caused by new mutations in the FGFR3 gene and occur in people with no history of the disorder in their family. No affected individuals are known to have had children; therefore, the disorder has not been passed to the next generation.
(Source: GHR)
Topic: thanatophoric dysplasia
Question: What are the treatments for thanatophoric dysplasia ?
Answer: These resources address the diagnosis or management of thanatophoric dysplasia:  - Gene Review: Gene Review: Thanatophoric Dysplasia  - Genetic Testing Registry: Thanatophoric dysplasia type 1  - Genetic Testing Registry: Thanatophoric dysplasia, type 2   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: aminoacylase 1 deficiency
Question: What is (are) aminoacylase 1 deficiency ?
Answer: Aminoacylase 1 deficiency is an inherited disorder that can cause neurological problems; the pattern and severity of signs and symptoms vary widely among affected individuals. Individuals with this condition typically have delayed development of mental and motor skills (psychomotor delay). They can have movement problems, reduced muscle tone (hypotonia), mild intellectual disability, and seizures. However, some people with aminoacylase 1 deficiency have no health problems related to the condition. A key feature common to all people with aminoacylase 1 deficiency is high levels of modified protein building blocks (amino acids), called N-acetylated amino acids, in the urine.
(Source: GHR)
Topic: aminoacylase 1 deficiency
Question: How many people are affected by aminoacylase 1 deficiency ?
Answer: The prevalence of aminoacylase 1 deficiency is unknown.
(Source: GHR)
Topic: aminoacylase 1 deficiency
Question: What are the genetic changes related to aminoacylase 1 deficiency ?
Answer: Aminoacylase 1 deficiency is caused by mutations in the ACY1 gene. This gene provides instructions for making an enzyme called aminoacylase 1, which is involved in the breakdown of proteins when they are no longer needed. Many proteins in the body have an acetyl group attached to one end. This modification, called N-acetylation, helps protect and stabilize the protein. Aminoacylase 1 performs the final step in the breakdown of these proteins by removing the acetyl group from certain amino acids. The amino acids can then be recycled and used to build other proteins.  Mutations in the ACY1 gene lead to an aminoacylase 1 enzyme with little or no function. Without this enzyme's function, acetyl groups are not efficiently removed from a subset of amino acids during the breakdown of proteins. The excess N-acetylated amino acids are released from the body in urine. It is not known how a reduction of aminoacylase 1 function leads to neurological problems in people with aminoacylase 1 deficiency.
(Source: GHR)
Topic: aminoacylase 1 deficiency
Question: Is aminoacylase 1 deficiency 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: aminoacylase 1 deficiency
Question: What are the treatments for aminoacylase 1 deficiency ?
Answer: These resources address the diagnosis or management of aminoacylase 1 deficiency:  - Genetic Testing Registry: Aminoacylase 1 deficiency   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 endocrine neoplasia
Question: What is (are) multiple endocrine neoplasia ?
Answer: Multiple endocrine neoplasia is a group of disorders that affect the body's network of hormone-producing glands (the endocrine system). Hormones are chemical messengers that travel through the bloodstream and regulate the function of cells and tissues throughout the body. Multiple endocrine neoplasia typically involves tumors (neoplasia) in at least two endocrine glands; tumors can also develop in other organs and tissues. These growths can be noncancerous (benign) or cancerous (malignant). If the tumors become cancerous, the condition can be life-threatening.  The major forms of multiple endocrine neoplasia are called type 1, type 2, and type 4. These types are distinguished by the genes involved, the types of hormones made, and the characteristic signs and symptoms.  Many different types of tumors are associated with multiple endocrine neoplasia. Type 1 frequently involves tumors of the parathyroid glands, the pituitary gland, and the pancreas. Tumors in these glands can lead to the overproduction of hormones. The most common sign of multiple endocrine neoplasia type 1 is overactivity of the parathyroid glands (hyperparathyroidism). Hyperparathyroidism disrupts the normal balance of calcium in the blood, which can lead to kidney stones, thinning of bones, nausea and vomiting, high blood pressure (hypertension), weakness, and fatigue.  The most common sign of multiple endocrine neoplasia type 2 is a form of thyroid cancer called medullary thyroid carcinoma. Some people with this disorder also develop a pheochromocytoma, which is an adrenal gland tumor that can cause dangerously high blood pressure. Multiple endocrine neoplasia type 2 is divided into three subtypes: type 2A, type 2B (formerly called type 3), and familial medullary thyroid carcinoma (FMTC). These subtypes differ in their characteristic signs and symptoms and risk of specific tumors; for example, hyperparathyroidism occurs only in type 2A, and medullary thyroid carcinoma is the only feature of FMTC. The signs and symptoms of multiple endocrine neoplasia type 2 are relatively consistent within any one family.  Multiple endocrine neoplasia type 4 appears to have signs and symptoms similar to those of type 1, although it is caused by mutations in a different gene. Hyperparathyroidism is the most common feature, followed by tumors of the pituitary gland, additional endocrine glands, and other organs.
(Source: GHR)
Topic: multiple endocrine neoplasia
Question: How many people are affected by multiple endocrine neoplasia ?
Answer: Multiple endocrine neoplasia type 1 affects about 1 in 30,000 people; multiple endocrine neoplasia type 2 affects an estimated 1 in 35,000 people. Among the subtypes of type 2, type 2A is the most common form, followed by FMTC. Type 2B is relatively uncommon, accounting for about 5 percent of all cases of type 2. The prevalence of multiple endocrine neoplasia type 4 is unknown, although the condition appears to be rare.
(Source: GHR)
Topic: multiple endocrine neoplasia
Question: What are the genetic changes related to multiple endocrine neoplasia ?
Answer: Mutations in the MEN1, RET, and CDKN1B genes can cause multiple endocrine neoplasia.  Mutations in the MEN1 gene cause multiple endocrine neoplasia type 1. This gene provides instructions for producing a protein called menin. Menin acts as a tumor suppressor, which means it normally keeps cells from growing and dividing too rapidly or in an uncontrolled way. Although the exact function of menin is unknown, it is likely involved in cell functions such as copying and repairing DNA and regulating the activity of other genes. When mutations inactivate both copies of the MEN1 gene, menin is no longer available to control cell growth and division. The loss of functional menin allows cells to divide too frequently, leading to the formation of tumors characteristic of multiple endocrine neoplasia type 1. It is unclear why these tumors preferentially affect endocrine tissues.  Mutations in the RET gene cause multiple endocrine neoplasia type 2. This gene provides instructions for producing a protein that is involved in signaling within cells. The RET protein triggers chemical reactions that instruct cells to respond to their environment, for example by dividing or maturing. Mutations in the RET gene overactivate the protein's signaling function, which can trigger cell growth and division in the absence of signals from outside the cell. This unchecked cell division can lead to the formation of tumors in endocrine glands and other tissues.  Mutations in the CDKN1B gene cause multiple endocrine neoplasia type 4. This gene provides instructions for making a protein called p27. Like the menin protein, p27 is a tumor suppressor that helps control the growth and division of cells. Mutations in the CDKN1B gene reduce the amount of functional p27, which allows cells to grow and divide unchecked. This unregulated cell division can lead to the development of tumors in endocrine glands and other tissues.
(Source: GHR)
Topic: multiple endocrine neoplasia
Question: Is multiple endocrine neoplasia inherited ?
Answer: Most cases of multiple endocrine neoplasia type 1 are considered to have an autosomal dominant pattern of inheritance. People with this condition are born with one mutated copy of the MEN1 gene in each cell. In most cases, the altered gene is inherited from an affected parent. The remaining cases are a result of new mutations in the MEN1 gene, and occur in people with no history of the disorder in their family.  Unlike most other autosomal dominant conditions, in which one altered copy of a gene in each cell is sufficient to cause the disorder, two copies of the MEN1 gene must be altered to trigger tumor formation in multiple endocrine neoplasia type 1. A mutation in the second copy of the MEN1 gene occurs in a small number of cells during a person's lifetime. Almost everyone who is born with one MEN1 mutation acquires a second mutation in certain cells, which can then divide in an unregulated way to form tumors.  Multiple endocrine neoplasia type 2 and type 4 are also inherited in an autosomal dominant pattern. In these cases, one copy of the mutated gene is sufficient to cause the disorder. Affected individuals often inherit an altered RET or CDKN1B gene from one parent with the condition. Some cases, however, result from new mutations in the gene and occur in people without other affected family members.
(Source: GHR)
Topic: multiple endocrine neoplasia
Question: What are the treatments for multiple endocrine neoplasia ?
Answer: These resources address the diagnosis or management of multiple endocrine neoplasia:  - Gene Review: Gene Review: Multiple Endocrine Neoplasia Type 1  - Gene Review: Gene Review: Multiple Endocrine Neoplasia Type 2  - Genetic Testing Registry: Familial medullary thyroid carcinoma  - Genetic Testing Registry: Multiple endocrine neoplasia, type 1  - Genetic Testing Registry: Multiple endocrine neoplasia, type 2a  - Genetic Testing Registry: Multiple endocrine neoplasia, type 2b  - Genetic Testing Registry: Multiple endocrine neoplasia, type 4  - Genomics Education Programme (UK): Multiple Endocrine Neoplasia type 1  - Genomics Education Programme (UK): Multiple Endocrine Neoplasia type 2A  - MedlinePlus Encyclopedia: Hyperparathyroidism  - MedlinePlus Encyclopedia: Medullary Carcinoma of Thyroid  - MedlinePlus Encyclopedia: Multiple Endocrine Neoplasia (MEN) I  - MedlinePlus Encyclopedia: Multiple Endocrine Neoplasia (MEN) II  - MedlinePlus Encyclopedia: Pancreatic Islet Cell Tumor  - MedlinePlus Encyclopedia: Pheochromocytoma  - MedlinePlus Encyclopedia: Pituitary Tumor  - National Cancer Institute: Genetic Testing for Hereditary Cancer Syndromes  - New York Thyroid Center: Medullary Thyroid Cancer   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: KBG syndrome
Question: What is (are) KBG syndrome ?
Answer: KBG syndrome is a rare disorder that affects several body systems. "KBG" represents the surname initials of the first families diagnosed with the disorder. Common signs and symptoms in individuals with this condition include unusual facial features, skeletal abnormalities, and intellectual disability.  A characteristic feature of KBG syndrome is unusually large upper front teeth (macrodontia). Other distinctive facial features include a wide, short skull (brachycephaly), a triangular face shape, widely spaced eyes (hypertelorism), wide eyebrows that may grow together in the middle (synophrys), a prominent nasal bridge, a long space between the nose and upper lip (philtrum), and a thin upper lip.  A common skeletal abnormality in people with KBG syndrome is slowed mineralization of bones (delayed bone age); for example, an affected 3-year-old child may have bones more typical of a child of 2. In addition, affected individuals can have abnormalities of the bones of the spine (vertebrae) and ribs. They can also have abnormalities of the bones of the hands, including unusually short or curved fifth (pinky) fingers (brachydactyly or clinodactyly, respectively). Most affected individuals are shorter than average from birth.  Development of mental and movement abilities is also delayed in KBG syndrome. Most affected individuals learn to speak and walk later than normal and have mild to moderate intellectual disability. Some people with this condition have behavioral or emotional problems, such as hyperactivity or anxiety.  Less common features of KBG syndrome include hearing loss, seizures, and heart defects.
(Source: GHR)
Topic: KBG syndrome
Question: How many people are affected by KBG syndrome ?
Answer: KBG syndrome is a rare disorder that has been reported in around 60 individuals. For unknown reasons, males are affected more often than females. Doctors think the disorder is underdiagnosed because the signs and symptoms can be mild and may be attributed to other disorders.
(Source: GHR)
Topic: KBG syndrome
Question: What are the genetic changes related to KBG syndrome ?
Answer: KBG syndrome is caused by mutations in the ANKRD11 gene. The protein produced from this gene enables other proteins to interact with each other and helps control gene activity. The ANKRD11 protein is found in nerve cells (neurons) in the brain. It plays a role in the proper development of the brain and may be involved in the ability of neurons to change and adapt over time (plasticity), which is important for learning and memory. ANKRD11 may function in other cells in the body and appears to be involved in normal bone development.  Most of the ANKRD11 gene mutations involved in KBG syndrome lead to an abnormally short ANKRD11 protein, which likely has little or no function. Reduction of this protein's function is thought to underlie the signs and symptoms of the condition. Because ANKRD11 is thought to play an important role in neurons and brain development, researchers speculate that a partial loss of its function may lead to developmental delay and intellectual disability in KBG syndrome. However, the mechanism is not fully known. It is also unclear how loss of ANKRD11 function leads to the skeletal features of the condition.
(Source: GHR)
Topic: KBG syndrome
Question: Is KBG syndrome inherited ?
Answer: 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 history of the disorder in their family.
(Source: GHR)
Topic: KBG syndrome
Question: What are the treatments for KBG syndrome ?
Answer: These resources address the diagnosis or management of KBG syndrome:  - Genetic Testing Registry: KBG 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: Alpers-Huttenlocher syndrome
Question: What is (are) Alpers-Huttenlocher syndrome ?
Answer: Alpers-Huttenlocher syndrome is one of the most severe of a group of conditions called the POLG-related disorders. The conditions in this group feature a range of similar signs and symptoms involving muscle-, nerve-, and brain-related functions. Alpers-Huttenlocher syndrome typically becomes apparent in children between ages 2 and 4. People with this condition usually have three characteristic features: recurrent seizures that do not improve with treatment (intractable epilepsy), loss of mental and movement abilities (psychomotor regression), and liver disease.  People with Alpers-Huttenlocher syndrome usually have additional signs and symptoms. Most have problems with coordination and balance (ataxia) and disturbances in nerve function (neuropathy). Neuropathy can lead to abnormal or absent reflexes (areflexia). In addition, affected individuals may develop weak muscle tone (hypotonia) that worsens until they lose the ability to control their muscles and movement. Some people with Alpers-Huttenlocher syndrome lose the ability to walk, sit, or feed themselves. Other movement-related symptoms in affected individuals can include involuntary muscle twitches (myoclonus), uncontrollable movements of the limbs (choreoathetosis), or a pattern of movement abnormalities known as parkinsonism.  Affected individuals may have other brain-related signs and symptoms. Migraine headaches, often with visual sensations or auras, are common. Additionally, people with this condition may have decreased brain function that is demonstrated as sleepiness, inability to concentrate, irritability, or loss of language skills or memory. Some people with the condition may lose their eyesight or hearing. People with Alpers-Huttenlocher syndrome can survive from a few months to more than 10 years after the condition first appears.
(Source: GHR)
Topic: Alpers-Huttenlocher syndrome
Question: How many people are affected by Alpers-Huttenlocher syndrome ?
Answer: The prevalence of Alpers-Huttenlocher syndrome is approximately 1 in 100,000 individuals.
(Source: GHR)
Topic: Alpers-Huttenlocher syndrome
Question: What are the genetic changes related to Alpers-Huttenlocher syndrome ?
Answer: Alpers-Huttenlocher syndrome is caused by mutations in the POLG gene. This gene provides instructions for making one part, the alpha subunit, of a protein called polymerase gamma (pol ). Pol  functions in mitochondria, which are structures within cells that use oxygen to convert the energy from food into a form cells can use. Mitochondria each contain a small amount of DNA, known as mitochondrial DNA (mtDNA), which is essential for the normal function of these structures. Pol  "reads" sequences of mtDNA and uses them as templates to produce new copies of mtDNA in a process called DNA replication.  Most POLG gene mutations change single protein building blocks (amino acids) in the alpha subunit of pol . These changes result in a mutated pol  that has a reduced ability to replicate DNA. Although the mechanism is unknown, mutations in the POLG gene often result in a reduced number of copies of mtDNA (mtDNA depletion), particularly in muscle, brain, and liver cells. MtDNA depletion causes a decrease in cellular energy, which could account for the signs and symptoms of Alpers-Huttenlocher syndrome.  A mutation in the POLG gene has not been identified in approximately 13 percent of people diagnosed with Alpers-Huttenlocher syndrome. Researchers are working to identify other genes that may be responsible for the condition.
(Source: GHR)
Topic: Alpers-Huttenlocher syndrome
Question: Is Alpers-Huttenlocher 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: Alpers-Huttenlocher syndrome
Question: What are the treatments for Alpers-Huttenlocher syndrome ?
Answer: These resources address the diagnosis or management of Alpers-Huttenlocher syndrome:  - Gene Review: Gene Review: POLG-Related Disorders  - Genetic Testing Registry: Progressive sclerosing poliodystrophy  - United Mitochondrial Disease Foundation: Diagnosis of Mitochondrial Disease   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)