qtype stringclasses 16
values | Question stringlengths 16 191 | Answer stringlengths 6 29k |
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genetic changes | What are the genetic changes related to geleophysic dysplasia ? | Geleophysic dysplasia results from mutations in the ADAMTSL2 gene. This gene provides instructions for making a protein whose function is unclear. The protein is found in the extracellular matrix, which is the intricate lattice of proteins and other molecules that forms in the spaces between cells. Studies suggest that... |
inheritance | Is geleophysic 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. |
treatment | What are the treatments for geleophysic dysplasia ? | These resources address the diagnosis or management of geleophysic dysplasia: - Gene Review: Gene Review: Geleophysic Dysplasia - Genetic Testing Registry: Geleophysic dysplasia 2 - MedlinePlus Encyclopedia: Short Stature These resources from MedlinePlus offer information about the diagnosis and management of vari... |
information | What is (are) hereditary sensory and autonomic neuropathy type V ? | Hereditary sensory and autonomic neuropathy type V (HSAN5) is a condition that primarily affects the sensory nerve cells (sensory neurons), which transmit information about sensations such as pain, temperature, and touch. These sensations are impaired in people with HSAN5. The signs and symptoms of HSAN5 appear early,... |
frequency | How many people are affected by hereditary sensory and autonomic neuropathy type V ? | HSAN5 is very rare. Only a few people with the condition have been identified. |
genetic changes | What are the genetic changes related to hereditary sensory and autonomic neuropathy type V ? | Mutations in the NGF gene cause HSAN5. The NGF gene provides instructions for making a protein called nerve growth factor beta (NGF) that is important in the development and survival of nerve cells (neurons), including sensory neurons. The NGF protein functions by attaching (binding) to its receptors, which are found o... |
inheritance | Is hereditary sensory and autonomic neuropathy type V 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. |
treatment | What are the treatments for hereditary sensory and autonomic neuropathy type V ? | These resources address the diagnosis or management of HSAN5: - Genetic Testing Registry: Congenital sensory neuropathy with selective loss of small myelinated fibers These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therap... |
information | What is (are) cardiofaciocutaneous syndrome ? | Cardiofaciocutaneous syndrome is a disorder that affects many parts of the body, particularly the heart (cardio-), facial features (facio-), and the skin and hair (cutaneous). People with this condition also have delayed development and intellectual disability, usually ranging from moderate to severe. Heart defects oc... |
frequency | How many people are affected by cardiofaciocutaneous syndrome ? | Cardiofaciocutaneous syndrome is a very rare condition whose incidence is unknown. Researchers estimate that 200 to 300 people worldwide have this condition. |
genetic changes | What are the genetic changes related to cardiofaciocutaneous syndrome ? | Cardiofaciocutaneous syndrome can be caused by mutations in several genes. Mutations in the BRAF gene are most common, accounting for 75 to 80 percent of all cases. Another 10 to 15 percent of cases result from mutations in one of two similar genes, MAP2K1 and MAP2K2. Fewer than 5 percent of cases are caused by mutatio... |
inheritance | Is cardiofaciocutaneous syndrome inherited ? | Cardiofaciocutaneous syndrome is considered to be an autosomal dominant condition, which means one copy of an altered gene in each cell is sufficient to cause the disorder. Cardiofaciocutaneous syndrome usually results from new gene mutations and occurs in people with no history of the disorder in their family. In a f... |
treatment | What are the treatments for cardiofaciocutaneous syndrome ? | These resources address the diagnosis or management of cardiofaciocutaneous syndrome: - Gene Review: Gene Review: Cardiofaciocutaneous Syndrome - Genetic Testing Registry: Cardiofaciocutaneous syndrome These resources from MedlinePlus offer information about the diagnosis and management of various health conditions... |
information | What is (are) UV-sensitive syndrome ? | UV-sensitive syndrome is a condition that is characterized by sensitivity to the ultraviolet (UV) rays in sunlight. Even a small amount of sun exposure can cause a sunburn in affected individuals. In addition, these individuals can have freckles, dryness, or changes in coloring (pigmentation) on sun-exposed areas of sk... |
frequency | How many people are affected by UV-sensitive syndrome ? | UV-sensitive syndrome appears to be a rare condition; only a small number of affected individuals have been reported in the scientific literature. However, this condition may be underdiagnosed. |
genetic changes | What are the genetic changes related to UV-sensitive syndrome ? | UV-sensitive syndrome can result from mutations in the ERCC6 gene (also known as the CSB gene), the ERCC8 gene (also known as the CSA gene), or the UVSSA gene. These genes provide instructions for making proteins that are involved in repairing damaged DNA. DNA can be damaged by UV rays from the sun and by toxic chemica... |
inheritance | Is UV-sensitive 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. |
treatment | What are the treatments for UV-sensitive syndrome ? | These resources address the diagnosis or management of UV-sensitive syndrome: - Genetic Testing Registry: UV-sensitive syndrome - Genetic Testing Registry: UV-sensitive syndrome 2 - Genetic Testing Registry: UV-sensitive syndrome 3 - Merck Manual Home Health Edition: Sunburn - World Health Organization: Sun Protec... |
information | What is (are) PDGFRA-associated chronic eosinophilic leukemia ? | PDGFRA-associated chronic eosinophilic leukemia is a form of blood cell cancer characterized by an elevated number of cells called eosinophils in the blood. These cells help fight infections by certain parasites and are involved in the inflammation associated with allergic reactions. However, these circumstances do not... |
frequency | How many people are affected by PDGFRA-associated chronic eosinophilic leukemia ? | PDGFRA-associated chronic eosinophilic leukemia is a rare condition; however, the exact prevalence is unknown. |
genetic changes | What are the genetic changes related to PDGFRA-associated chronic eosinophilic leukemia ? | PDGFRA-associated chronic eosinophilic leukemia is caused by mutations in the PDGFRA gene. This condition usually occurs as a result of genetic rearrangements that fuse part of the PDGFRA gene with part of another gene. Rarely, changes in single DNA building blocks (point mutations) in the PDGFRA gene are found in peop... |
inheritance | Is PDGFRA-associated chronic eosinophilic leukemia inherited ? | PDGFRA-associated chronic eosinophilic leukemia is not inherited and occurs in people with no history of the condition in their families. Mutations that lead to a PDGFRA fusion gene and PDGFRA point mutations are somatic mutations, which means they occur during a person's lifetime and are found only in certain cells. S... |
treatment | What are the treatments for PDGFRA-associated chronic eosinophilic leukemia ? | These resources address the diagnosis or management of PDGFRA-associated chronic eosinophilic leukemia: - Cancer.Net: Leukemia - Eosinophilic: Treatment - Genetic Testing Registry: Idiopathic hypereosinophilic syndrome - MedlinePlus Encyclopedia: Eosinophil Count - Absolute - Seattle Cancer Care Alliance: Hypereosi... |
information | What is (are) Tay-Sachs disease ? | Tay-Sachs disease is a rare inherited disorder that progressively destroys nerve cells (neurons) in the brain and spinal cord. The most common form of Tay-Sachs disease becomes apparent in infancy. Infants with this disorder typically appear normal until the age of 3 to 6 months, when their development slows and muscl... |
frequency | How many people are affected by Tay-Sachs disease ? | Tay-Sachs disease is very rare in the general population. The genetic mutations that cause this disease are more common in people of Ashkenazi (eastern and central European) Jewish heritage than in those with other backgrounds. The mutations responsible for this disease are also more common in certain French-Canadian c... |
genetic changes | What are the genetic changes related to Tay-Sachs disease ? | Mutations in the HEXA gene cause Tay-Sachs disease. The HEXA gene provides instructions for making part of an enzyme called beta-hexosaminidase A, which plays a critical role in the brain and spinal cord. This enzyme is located in lysosomes, which are structures in cells that break down toxic substances and act as recy... |
inheritance | Is Tay-Sachs disease 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. |
treatment | What are the treatments for Tay-Sachs disease ? | These resources address the diagnosis or management of Tay-Sachs disease: - Gene Review: Gene Review: Hexosaminidase A Deficiency - Genetic Testing Registry: Tay-Sachs disease - MedlinePlus Encyclopedia: Tay-Sachs Disease These resources from MedlinePlus offer information about the diagnosis and management of vari... |
information | What is (are) Fryns syndrome ? | Fryns syndrome is a condition that affects the development of many parts of the body. The features of this disorder vary widely among affected individuals and overlap with the signs and symptoms of several other disorders. These factors can make Fryns syndrome difficult to diagnose. Most people with Fryns syndrome hav... |
frequency | How many people are affected by Fryns syndrome ? | The worldwide incidence of Fryns syndrome is unknown. More than 50 affected individuals have been reported in the medical literature. Studies suggest that Fryns syndrome occurs in 1.3 to 10 percent of all cases of congenital diaphragmatic hernia. |
genetic changes | What are the genetic changes related to Fryns syndrome ? | The cause of Fryns syndrome is unknown. The disorder is thought to be genetic because it tends to run in families and has features similar to those of other genetic disorders. Duplications and deletions in several chromosome regions have been associated with congenital diaphragmatic hernia and some of the other feature... |
inheritance | Is Fryns syndrome inherited ? | Fryns syndrome appears to be inherited in an autosomal recessive pattern, which means both copies of a gene in each cell have mutations. However, no associated gene has been identified. The parents of an individual with an autosomal recessive condition each carry one copy of the altered gene, but they typically do not ... |
treatment | What are the treatments for Fryns syndrome ? | These resources address the diagnosis or management of Fryns syndrome: - Children's Hospital of Philadelphia: Treatment of Congenital Diaphragmatic Hernia - Gene Review: Gene Review: Fryns Syndrome - Genetic Testing Registry: Fryns syndrome - Seattle Children's Hospital: Treatment of Congenital Diaphragmatic Hernia... |
information | What is (are) malonyl-CoA decarboxylase deficiency ? | Malonyl-CoA decarboxylase deficiency is a condition that prevents the body from converting certain fats to energy. The signs and symptoms of this disorder typically appear in early childhood. Almost all affected children have delayed development. Additional signs and symptoms can include weak muscle tone (hypotonia), s... |
frequency | How many people are affected by malonyl-CoA decarboxylase deficiency ? | This condition is very rare; fewer than 30 cases have been reported. |
genetic changes | What are the genetic changes related to malonyl-CoA decarboxylase deficiency ? | Mutations in the MLYCD gene cause malonyl-CoA decarboxylase deficiency. The MLYCD gene provides instructions for making an enzyme called malonyl-CoA decarboxylase. Within cells, this enzyme helps regulate the formation and breakdown of a group of fats called fatty acids. Many tissues, including the heart muscle, use fa... |
inheritance | Is malonyl-CoA decarboxylase deficiency 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. |
treatment | What are the treatments for malonyl-CoA decarboxylase deficiency ? | These resources address the diagnosis or management of malonyl-CoA decarboxylase deficiency: - Baby's First Test - Genetic Testing Registry: Deficiency of malonyl-CoA decarboxylase These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests... |
information | What is (are) sick sinus syndrome ? | Sick sinus syndrome (also known as sinus node dysfunction) is a group of related heart conditions that can affect how the heart beats. "Sick sinus" refers to the sino-atrial (SA) node, which is an area of specialized cells in the heart that functions as a natural pacemaker. The SA node generates electrical impulses tha... |
frequency | How many people are affected by sick sinus syndrome ? | Sick sinus syndrome accounts for 1 in 600 patients with heart disease who are over age 65. The incidence of this condition increases with age. |
genetic changes | What are the genetic changes related to sick sinus syndrome ? | Sick sinus syndrome can result from genetic or environmental factors. In many cases, the cause of the condition is unknown. Genetic changes are an uncommon cause of sick sinus syndrome. Mutations in two genes, SCN5A and HCN4, have been found to cause the condition in a small number of families. These genes provide ins... |
inheritance | Is sick sinus syndrome inherited ? | Most cases of sick sinus syndrome are not inherited. They are described as sporadic, which means they occur in people with no history of the disorder in their family. When sick sinus syndrome results from mutations in the HCN4 gene, it has an autosomal dominant pattern of inheritance. Autosomal dominant inheritance me... |
treatment | What are the treatments for sick sinus syndrome ? | These resources address the diagnosis or management of sick sinus syndrome: - Cleveland Clinic: Management of Arrhythmias - Genetic Testing Registry: Sick sinus syndrome 1, autosomal recessive - Genetic Testing Registry: Sick sinus syndrome 2, autosomal dominant - Genetic Testing Registry: Sick sinus syndrome 3, su... |
information | What is (are) GM3 synthase deficiency ? | GM3 synthase deficiency is characterized by recurrent seizures (epilepsy) and problems with brain development. Within the first few weeks after birth, affected infants become irritable and develop feeding difficulties and vomiting that prevent them from growing and gaining weight at the usual rate. Seizures begin withi... |
frequency | How many people are affected by GM3 synthase deficiency ? | GM3 synthase deficiency appears to be a rare condition. About 50 cases have been reported, mostly from Old Order Amish communities. |
genetic changes | What are the genetic changes related to GM3 synthase deficiency ? | Mutations in the ST3GAL5 gene have been found to cause GM3 synthase deficiency. This gene provides instructions for making an enzyme called GM3 synthase, which carries out a chemical reaction that is the first step in the production of molecules called gangliosides. These molecules are present in cells and tissues thro... |
inheritance | Is GM3 synthase deficiency 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. |
treatment | What are the treatments for GM3 synthase deficiency ? | These resources address the diagnosis or management of GM3 synthase deficiency: - American Epilepsy Society: Find a Doctor - Clinic for Special Children (Strasburg, Pennsylvania) - Genetic Testing Registry: Amish infantile epilepsy syndrome These resources from MedlinePlus offer information about the diagnosis and... |
information | What is (are) Myhre syndrome ? | Myhre syndrome is a condition with features affecting many systems and functions of the body. People with Myhre syndrome usually have delayed development of language and motor skills such as crawling and walking. Most have intellectual disability that ranges from mild to moderate. Some have behavioral issues such as f... |
frequency | How many people are affected by Myhre syndrome ? | Myhre syndrome is a rare disorder. Only about 30 cases have been documented in the medical literature. For reasons that are unknown, most affected individuals have been males. |
genetic changes | What are the genetic changes related to Myhre syndrome ? | Mutations in the SMAD4 gene cause Myhre syndrome. The SMAD4 gene provides instructions for making a protein involved in transmitting chemical signals from the cell surface to the nucleus. This signaling pathway, called the transforming growth factor beta (TGF-) pathway, allows the environment outside the cell to affect... |
inheritance | Is Myhre syndrome 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. |
treatment | What are the treatments for Myhre syndrome ? | These resources address the diagnosis or management of Myhre syndrome: - Centers for Disease Control and Prevention: Types of Hearing Loss - Genetic Testing Registry: Myhre syndrome - National Institute on Deafness and Other Communication Disorders: Communication Considerations for Parents of Deaf and Hard-of-Hearin... |
information | What is (are) ADCY5-related dyskinesia ? | ADCY5-related dyskinesia is a movement disorder; the term "dyskinesia" refers to abnormal involuntary movements. The abnormal movements that occur in ADCY5-related dyskinesia typically appear as sudden (paroxysmal) jerks, twitches, tremors, muscle tensing (dystonia), or writhing (choreiform) movements, and can affect t... |
frequency | How many people are affected by ADCY5-related dyskinesia ? | The prevalence of ADCY5-related dyskinesia is unknown. At least 50 affected individuals have been described in the medical literature. |
genetic changes | What are the genetic changes related to ADCY5-related dyskinesia ? | As its name suggests, ADCY5-related dyskinesia is caused by mutations in the ADCY5 gene. This gene provides instructions for making an enzyme called adenylate cyclase 5. This enzyme helps convert a molecule called adenosine triphosphate (ATP) to another molecule called cyclic adenosine monophosphate (cAMP). ATP is a mo... |
inheritance | Is ADCY5-related dyskinesia 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... |
treatment | What are the treatments for ADCY5-related dyskinesia ? | These resources address the diagnosis or management of ADCY5-related dyskinesia: - Gene Review: Gene Review: ADCY5-Related Dyskinesia - Genetic Testing Registry: Dyskinesia, familial, with facial myokymia - National Ataxia Foundation: Movement Disorder Clinics These resources from MedlinePlus offer information abo... |
information | What is (are) Shwachman-Diamond syndrome ? | Shwachman-Diamond syndrome is an inherited condition that affects many parts of the body, particularly the bone marrow, pancreas, and skeletal system. The major function of bone marrow is to produce new blood cells. These include red blood cells, which carry oxygen to the body's tissues; white blood cells, which fight... |
frequency | How many people are affected by Shwachman-Diamond syndrome ? | Researchers are not sure how common Shwachman-Diamond syndrome is. Several hundred cases have been reported in scientific studies. |
genetic changes | What are the genetic changes related to Shwachman-Diamond syndrome ? | Mutations in the SBDS gene have been identified in about 90 percent of people with the characteristic features of Shwachman-Diamond syndrome. This gene provides instructions for making a protein whose function is unknown, although it is active in cells throughout the body. Researchers suspect that the SBDS protein may ... |
inheritance | Is Shwachman-Diamond 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. |
treatment | What are the treatments for Shwachman-Diamond syndrome ? | These resources address the diagnosis or management of Shwachman-Diamond syndrome: - Gene Review: Gene Review: Shwachman-Diamond Syndrome - Genetic Testing Registry: Shwachman syndrome - MedlinePlus Encyclopedia: Malabsorption These resources from MedlinePlus offer information about the diagnosis and management of... |
information | What is (are) essential tremor ? | Essential tremor is a movement disorder that causes involuntary, rhythmic shaking (tremor), especially in the hands. It is distinguished from tremor that results from other disorders or known causes, such as Parkinson disease or head trauma. Essential tremor usually occurs alone, without other neurological signs or sym... |
frequency | How many people are affected by essential tremor ? | Essential tremor is a common disorder, affecting up to 10 million people in the United States. Estimates of its prevalence vary widely because several other disorders, as well as other factors such as certain medications, can result in similar tremors. In addition, mild cases are often not brought to medical attention,... |
genetic changes | What are the genetic changes related to essential tremor ? | The causes of essential tremor are unknown. Researchers are studying several areas (loci) on particular chromosomes that may be linked to essential tremor, but no specific genetic associations have been confirmed. Several genes as well as environmental factors likely help determine an individual's risk of developing th... |
inheritance | Is essential tremor inherited ? | Essential tremor can be passed through generations in families, but the inheritance pattern varies. In most affected families, essential tremor appears to be inherited in an autosomal dominant pattern, which means one copy of an altered gene in each cell is sufficient to cause the disorder, although no genes that cause... |
treatment | What are the treatments for essential tremor ? | These resources address the diagnosis or management of essential tremor: - Genetic Testing Registry: Hereditary essential tremor 1 - Johns Hopkins Movement Disorders Center - MedlinePlus Encyclopedia: Essential Tremor These resources from MedlinePlus offer information about the diagnosis and management of various ... |
information | What is (are) spastic paraplegia type 7 ? | Spastic paraplegia type 7 is part of a group of genetic disorders known as hereditary spastic paraplegias. These disorders are characterized by progressive muscle stiffness (spasticity) and the development of paralysis of the lower limbs (paraplegia). Hereditary spastic paraplegias are divided into two types: pure and ... |
frequency | How many people are affected by spastic paraplegia type 7 ? | The prevalence of all hereditary spastic paraplegias combined is estimated to be 2 to 6 in 100,000 people worldwide. Spastic paraplegia type 7 likely accounts for only a small percentage of all spastic paraplegia cases. |
genetic changes | What are the genetic changes related to spastic paraplegia type 7 ? | Mutations in the SPG7 gene cause spastic paraplegia type 7. The SPG7 gene provides instructions for producing a protein called paraplegin. Located within the inner membrane of the energy-producing centers of cells (mitochondria), paraplegin is one of the proteins that form a complex called the m-AAA protease. The m-AAA... |
inheritance | Is spastic paraplegia type 7 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. |
treatment | What are the treatments for spastic paraplegia type 7 ? | These resources address the diagnosis or management of spastic paraplegia type 7: - Gene Review: Gene Review: Hereditary Spastic Paraplegia Overview - Gene Review: Gene Review: Spastic Paraplegia 7 - Genetic Testing Registry: Spastic paraplegia 7 - Spastic Paraplegia Foundation, Inc.: Treatments and Therapies The... |
information | What is (are) Duchenne and Becker muscular dystrophy ? | Muscular dystrophies are a group of genetic conditions characterized by progressive muscle weakness and wasting (atrophy). The Duchenne and Becker types of muscular dystrophy are two related conditions that primarily affect skeletal muscles, which are used for movement, and heart (cardiac) muscle. These forms of muscul... |
frequency | How many people are affected by Duchenne and Becker muscular dystrophy ? | Duchenne and Becker muscular dystrophies together affect 1 in 3,500 to 5,000 newborn males worldwide. Between 400 and 600 boys in the United States are born with these conditions each year. |
genetic changes | What are the genetic changes related to Duchenne and Becker muscular dystrophy ? | Mutations in the DMD gene cause the Duchenne and Becker forms of muscular dystrophy. The DMD gene provides instructions for making a protein called dystrophin. This protein is located primarily in skeletal and cardiac muscle, where it helps stabilize and protect muscle fibers. Dystrophin may also play a role in chemica... |
inheritance | Is Duchenne and Becker muscular dystrophy 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... |
treatment | What are the treatments for Duchenne and Becker muscular dystrophy ? | These resources address the diagnosis or management of Duchenne and Becker muscular dystrophy: - Gene Review: Gene Review: Dilated Cardiomyopathy Overview - Gene Review: Gene Review: Dystrophinopathies - Genetic Testing Registry: Becker muscular dystrophy - Genetic Testing Registry: Duchenne muscular dystrophy - G... |
information | What is (are) combined pituitary hormone deficiency ? | Combined pituitary hormone deficiency is a condition that causes a shortage (deficiency) of several hormones produced by the pituitary gland, which is located at the base of the brain. A lack of these hormones may affect the development of many parts of the body. The first signs of this condition include a failure to g... |
frequency | How many people are affected by combined pituitary hormone deficiency ? | The prevalence of combined pituitary hormone deficiency is estimated to be 1 in 8,000 individuals worldwide. |
genetic changes | What are the genetic changes related to combined pituitary hormone deficiency ? | Mutations in at least eight genes have been found to cause combined pituitary hormone deficiency. Mutations in the PROP1 gene are the most common known cause of this disorder, accounting for an estimated 12 to 55 percent of cases. Mutations in other genes have each been identified in a smaller number of affected indivi... |
inheritance | Is combined pituitary hormone deficiency inherited ? | Most cases of combined pituitary hormone deficiency are sporadic, which means they occur in people with no history of the disorder in their family. Less commonly, this condition has been found to run in families. When the disorder is familial, it can have an autosomal dominant or an autosomal recessive pattern of inher... |
treatment | What are the treatments for combined pituitary hormone deficiency ? | These resources address the diagnosis or management of combined pituitary hormone deficiency: - Gene Review: Gene Review: PROP1-Related Combined Pituitary Hormone Deficiency - Genetic Testing Registry: Pituitary hormone deficiency, combined - Genetic Testing Registry: Pituitary hormone deficiency, combined 1 - Gene... |
information | What is (are) multiple mitochondrial dysfunctions syndrome ? | 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 dysfunct... |
frequency | How many people are affected by multiple mitochondrial dysfunctions syndrome ? | 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. |
genetic changes | What are the genetic changes related to multiple mitochondrial dysfunctions syndrome ? | 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 atta... |
inheritance | Is multiple mitochondrial dysfunctions 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. |
treatment | What are the treatments for multiple mitochondrial dysfunctions syndrome ? | 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 - Ge... |
information | What is (are) Charcot-Marie-Tooth disease ? | Charcot-Marie-Tooth disease is a group of progressive disorders that affect the peripheral nerves. Peripheral nerves connect the brain and spinal cord to muscles and to sensory cells that detect sensations such as touch, pain, heat, and sound. Damage to the peripheral nerves can result in loss of sensation and wasting ... |
frequency | How many people are affected by Charcot-Marie-Tooth disease ? | Charcot-Marie-Tooth disease is the most common inherited disorder that involves the peripheral nerves, affecting an estimated 150,000 people in the United States. It occurs in populations worldwide with a prevalence of about 1 in 2,500 individuals. |
genetic changes | What are the genetic changes related to Charcot-Marie-Tooth disease ? | Charcot-Marie-Tooth disease is caused by mutations in many different genes. These genes provide instructions for making proteins that are involved in the function of peripheral nerves in the feet, legs, and hands. The gene mutations that cause Charcot-Marie-Tooth disease affect the function of the proteins in ways that... |
inheritance | Is Charcot-Marie-Tooth disease inherited ? | The pattern of inheritance varies with the type of Charcot-Marie-Tooth disease. CMT1, most cases of CMT2, and most intermediate forms are inherited in an autosomal dominant pattern. This pattern of inheritance means that one copy of the altered gene in each cell is sufficient to cause the disorder. In most cases, an af... |
treatment | What are the treatments for Charcot-Marie-Tooth disease ? | These resources address the diagnosis or management of Charcot-Marie-Tooth disease: - Gene Review: Gene Review: Charcot-Marie-Tooth Hereditary Neuropathy Overview - Gene Review: Gene Review: Charcot-Marie-Tooth Neuropathy Type 1 - Gene Review: Gene Review: Charcot-Marie-Tooth Neuropathy Type 2 - Gene Review: Gene R... |
information | What is (are) hypophosphatasia ? | Hypophosphatasia is an inherited disorder that affects the development of bones and teeth. This condition disrupts a process called mineralization, in which minerals such as calcium and phosphorus are deposited in developing bones and teeth. Mineralization is critical for the formation of bones that are strong and rigi... |
frequency | How many people are affected by hypophosphatasia ? | Severe forms of hypophosphatasia affect an estimated 1 in 100,000 newborns. Milder cases, such as those that appear in childhood or adulthood, probably occur more frequently. Hypophosphatasia has been reported worldwide in people of various ethnic backgrounds. This condition appears to be most common in white populati... |
genetic changes | What are the genetic changes related to hypophosphatasia ? | Mutations in the ALPL gene cause hypophosphatasia. The ALPL gene provides instructions for making an enzyme called alkaline phosphatase. This enzyme plays an essential role in mineralization of the skeleton and teeth. Mutations in the ALPL gene lead to the production of an abnormal version of alkaline phosphatase that... |
inheritance | Is hypophosphatasia inherited ? | The severe forms of hypophosphatasia that appear early in life are inherited in an autosomal recessive pattern. Autosomal recessive inheritance means that two copies of the gene in each cell are altered. Most often, the parents of an individual with an autosomal recessive disorder each carry one copy of the altered gen... |
treatment | What are the treatments for hypophosphatasia ? | These resources address the diagnosis or management of hypophosphatasia: - Gene Review: Gene Review: Hypophosphatasia - Genetic Testing Registry: Adult hypophosphatasia - Genetic Testing Registry: Childhood hypophosphatasia - Genetic Testing Registry: Hypophosphatasia - Genetic Testing Registry: Infantile hypophos... |
information | What is (are) supravalvular aortic stenosis ? | Supravalvular aortic stenosis (SVAS) is a heart defect that develops before birth. This defect is a narrowing (stenosis) of the large blood vessel that carries blood from the heart to the rest of the body (the aorta). The condition is described as supravalvular because the section of the aorta that is narrowed is locat... |
frequency | How many people are affected by supravalvular aortic stenosis ? | SVAS occurs in 1 in 20,000 newborns worldwide. |
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