problem stringlengths 16 191 | explanation stringlengths 6 29k ⌀ | type stringlengths 3 136 ⌀ |
|---|---|---|
What is (are) Kabuki syndrome ? | Kabuki syndrome is a disorder that affects many parts of the body. It is characterized by distinctive facial features including arched eyebrows; long eyelashes; long openings of the eyelids (long palpebral fissures) with the lower lids turned out (everted) at the outside edges; a flat, broadened tip of the nose; and la... | Kabuki syndrome |
How many people are affected by Kabuki syndrome ? | Kabuki syndrome occurs in approximately 1 in 32,000 newborns. | Kabuki syndrome |
What are the genetic changes related to Kabuki syndrome ? | Kabuki syndrome is caused by mutations in the KMT2D gene (also known as MLL2) or the KDM6A gene. Between 55 and 80 percent of cases of Kabuki syndrome are caused by mutations in the KMT2D gene. This gene provides instructions for making an enzyme called lysine-specific methyltransferase 2D that is found in many organs... | Kabuki syndrome |
Is Kabuki syndrome inherited ? | When Kabuki syndrome is caused by mutations in the KMT2D gene, it is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. When Kabuki syndrome is caused by mutations in the KDM6A gene, it is inherited in an X-linked dominant pattern. The... | Kabuki syndrome |
What are the treatments for Kabuki syndrome ? | These resources address the diagnosis or management of Kabuki syndrome: - Boston Children's Hospital - Gene Review: Gene Review: Kabuki Syndrome - Genetic Testing Registry: Kabuki make-up syndrome - Genetic Testing Registry: Kabuki syndrome 2 These resources from MedlinePlus offer information about the diagnosis ... | Kabuki syndrome |
What is (are) familial glucocorticoid deficiency ? | Familial glucocorticoid deficiency is a condition that occurs when the adrenal glands, which are hormone-producing glands located on top of each kidney, do not produce certain hormones called glucocorticoids. These hormones, which include cortisol and corticosterone, aid in immune system function, play a role in mainta... | familial glucocorticoid deficiency |
How many people are affected by familial glucocorticoid deficiency ? | The prevalence of familial glucocorticoid deficiency is unknown. | familial glucocorticoid deficiency |
What are the genetic changes related to familial glucocorticoid deficiency ? | Mutations in the MC2R, MRAP, and NNT genes account for the majority of cases of familial glucocorticoid deficiency; mutations in other genes, some known and some unidentified, can also cause this condition. The MC2R gene provides instructions for making a protein called adrenocorticotropic hormone (ACTH) receptor, whi... | familial glucocorticoid deficiency |
Is familial glucocorticoid 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. | familial glucocorticoid deficiency |
What are the treatments for familial glucocorticoid deficiency ? | These resources address the diagnosis or management of familial glucocorticoid deficiency: - Genetic Testing Registry: ACTH resistance - Genetic Testing Registry: Glucocorticoid deficiency 2 - Genetic Testing Registry: Glucocorticoid deficiency 3 - Genetic Testing Registry: Glucocorticoid deficiency 4 - Genetic Te... | familial glucocorticoid deficiency |
What is (are) Walker-Warburg syndrome ? | Walker-Warburg syndrome is an inherited disorder that affects development of the muscles, brain, and eyes. It is the most severe of a group of genetic conditions known as congenital muscular dystrophies, which cause muscle weakness and wasting (atrophy) beginning very early in life. The signs and symptoms of Walker-War... | Walker-Warburg syndrome |
How many people are affected by Walker-Warburg syndrome ? | Walker-Warburg syndrome is estimated to affect 1 in 60,500 newborns worldwide. | Walker-Warburg syndrome |
What are the genetic changes related to Walker-Warburg syndrome ? | Walker-Warburg syndrome can be caused by mutations in one of several genes, including POMT1, POMT2, ISPD, FKTN, FKRP, and LARGE. The proteins produced from these genes modify another protein called alpha ()-dystroglycan; this modification, called glycosylation, is required for -dystroglycan to function. The -dystroglyc... | Walker-Warburg syndrome |
Is Walker-Warburg 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. | Walker-Warburg syndrome |
What are the treatments for Walker-Warburg syndrome ? | These resources address the diagnosis or management of Walker-Warburg syndrome: - Gene Review: Gene Review: Congenital Muscular Dystrophy Overview - Genetic Testing Registry: Walker-Warburg congenital muscular dystrophy These resources from MedlinePlus offer information about the diagnosis and management of various... | Walker-Warburg syndrome |
What is (are) Wolman disease ? | Wolman disease is a rare inherited condition involving the breakdown and use of fats and cholesterol in the body (lipid metabolism). In affected individuals, harmful amounts of lipids accumulate in the spleen, liver, bone marrow, small intestine, small hormone-producing glands on top of each kidney (adrenal glands), an... | Wolman disease |
How many people are affected by Wolman disease ? | Wolman disease is estimated to occur in 1 in 350,000 newborns. | Wolman disease |
What are the genetic changes related to Wolman disease ? | Mutations in the LIPA gene cause Wolman disease. The LIPA gene provides instructions for producing an enzyme called lysosomal acid lipase. This enzyme is found in the lysosomes (compartments that digest and recycle materials in the cell), where it processes lipids such as cholesteryl esters and triglycerides so they c... | Wolman disease |
Is Wolman 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. | Wolman disease |
What are the treatments for Wolman disease ? | These resources address the diagnosis or management of Wolman disease: - Genetic Testing Registry: Lysosomal acid lipase deficiency These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - ... | Wolman disease |
What is (are) glycogen storage disease type VI ? | Glycogen storage disease type VI (also known as GSDVI or Hers disease) is an inherited disorder caused by an inability to break down a complex sugar called glycogen in liver cells. A lack of glycogen breakdown interferes with the normal function of the liver. The signs and symptoms of GSDVI typically begin in infancy ... | glycogen storage disease type VI |
How many people are affected by glycogen storage disease type VI ? | The exact prevalence of GSDVI is unknown. At least 11 cases have been reported in the medical literature, although this condition is likely to be underdiagnosed because it can be difficult to detect in children with mild symptoms or adults with no symptoms. GSDVI is more common in the Old Older Mennonite population, wi... | glycogen storage disease type VI |
What are the genetic changes related to glycogen storage disease type VI ? | Mutations in the PYGL gene cause GSDVI. The PYGL gene provides instructions for making an enzyme called liver glycogen phosphorylase. This enzyme is found only in liver cells, where it breaks down glycogen into a type of sugar called glucose-1-phosphate. Additional steps convert glucose-1-phosphate into glucose, a simp... | glycogen storage disease type VI |
Is glycogen storage disease type VI 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. | glycogen storage disease type VI |
What are the treatments for glycogen storage disease type VI ? | These resources address the diagnosis or management of glycogen storage disease type VI: - Gene Review: Gene Review: Glycogen Storage Disease Type VI - Genetic Testing Registry: Glycogen storage disease, type VI These resources from MedlinePlus offer information about the diagnosis and management of various health ... | glycogen storage disease type VI |
What is (are) guanidinoacetate methyltransferase deficiency ? | Guanidinoacetate methyltransferase deficiency is an inherited disorder that primarily affects the brain and muscles. Without early treatment, people with this disorder have neurological problems that are usually severe. These problems include intellectual disability, speech development limited to a few words, and recur... | guanidinoacetate methyltransferase deficiency |
How many people are affected by guanidinoacetate methyltransferase deficiency ? | Guanidinoacetate methyltransferase deficiency is a very rare disorder. About 80 affected individuals have been described in the medical literature. Of these, approximately one-third are of Portuguese origin. | guanidinoacetate methyltransferase deficiency |
What are the genetic changes related to guanidinoacetate methyltransferase deficiency ? | Mutations in the GAMT gene cause guanidinoacetate methyltransferase deficiency. The GAMT gene provides instructions for making the enzyme guanidinoacetate methyltransferase. This enzyme participates in the two-step production (synthesis) of the compound creatine from the protein building blocks (amino acids) glycine, a... | guanidinoacetate methyltransferase deficiency |
Is guanidinoacetate methyltransferase 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. | guanidinoacetate methyltransferase deficiency |
What are the treatments for guanidinoacetate methyltransferase deficiency ? | These resources address the diagnosis or management of guanidinoacetate methyltransferase deficiency: - Gene Review: Gene Review: Creatine Deficiency Syndromes - Genetic Testing Registry: Deficiency of guanidinoacetate methyltransferase These resources from MedlinePlus offer information about the diagnosis and mana... | guanidinoacetate methyltransferase deficiency |
What is (are) enlarged parietal foramina ? | Enlarged parietal foramina is an inherited condition of impaired skull development. It is characterized by enlarged openings (foramina) in the parietal bones, which are the two bones that form the top and sides of the skull. This condition is due to incomplete bone formation (ossification) within the parietal bones. Th... | enlarged parietal foramina |
How many people are affected by enlarged parietal foramina ? | The prevalence of enlarged parietal foramina is estimated to be 1 in 15,000 to 50,000 individuals. | enlarged parietal foramina |
What are the genetic changes related to enlarged parietal foramina ? | Mutations in the ALX4 gene account for 60 percent of cases of enlarged parietal foramina and mutations in the MSX2 gene account for 40 percent of cases. These genes provide instructions for producing proteins called transcription factors, which are required for proper development throughout the body. Transcription fact... | enlarged parietal foramina |
Is enlarged parietal foramina 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 most cases, an affected person has one parent with the condition. However, in rare cases, people who inherit an altered gene do not have enlarged parietal foramina... | enlarged parietal foramina |
What are the treatments for enlarged parietal foramina ? | These resources address the diagnosis or management of enlarged parietal foramina: - Gene Review: Gene Review: Enlarged Parietal Foramina - Genetic Testing Registry: Parietal foramina - Genetic Testing Registry: Parietal foramina 1 - Genetic Testing Registry: Parietal foramina 2 - MedlinePlus Encyclopedia: Skull o... | enlarged parietal foramina |
What is (are) osteogenesis imperfecta ? | Osteogenesis imperfecta (OI) is a group of genetic disorders that mainly affect the bones. The term "osteogenesis imperfecta" means imperfect bone formation. People with this condition have bones that break easily, often from mild trauma or with no apparent cause. Multiple fractures are common, and in severe cases, can... | osteogenesis imperfecta |
How many people are affected by osteogenesis imperfecta ? | This condition affects an estimated 6 to 7 per 100,000 people worldwide. Types I and IV are the most common forms of osteogenesis imperfecta, affecting 4 to 5 per 100,000 people. | osteogenesis imperfecta |
What are the genetic changes related to osteogenesis imperfecta ? | Mutations in the COL1A1, COL1A2, CRTAP, and P3H1 genes cause osteogenesis imperfecta. Mutations in the COL1A1 and COL1A2 genes are responsible for more than 90 percent of all cases of osteogenesis imperfecta. These genes provide instructions for making proteins that are used to assemble type I collagen. This type of c... | osteogenesis imperfecta |
Is osteogenesis imperfecta inherited ? | Most cases of osteogenesis imperfecta have an autosomal dominant pattern of inheritance, which means one copy of the altered gene in each cell is sufficient to cause the condition. Many people with type I or type IV osteogenesis imperfecta inherit a mutation from a parent who has the disorder. Most infants with more se... | osteogenesis imperfecta |
What are the treatments for osteogenesis imperfecta ? | These resources address the diagnosis or management of osteogenesis imperfecta: - Gene Review: Gene Review: COL1A1/2-Related Osteogenesis Imperfecta - Genetic Testing Registry: Osteogenesis imperfecta - Genetic Testing Registry: Osteogenesis imperfecta type 5 - Genetic Testing Registry: Osteogenesis imperfecta type... | osteogenesis imperfecta |
What is (are) dystonia 6 ? | Dystonia 6 is one of many forms of dystonia, which is a group of conditions characterized by involuntary movements, twisting (torsion) and tensing of various muscles, and unusual positioning of affected body parts. Dystonia 6 can appear at any age from childhood through adulthood; the average age of onset is 18. The s... | dystonia 6 |
How many people are affected by dystonia 6 ? | The prevalence of dystonia 6 is unknown. Studies indicate that it likely accounts for between 1 and 3 percent of all cases of dystonia. For reasons that are unclear, the disorder appears to be slightly more prevalent in females than in males. | dystonia 6 |
What are the genetic changes related to dystonia 6 ? | Dystonia 6 is caused by mutations in the THAP1 gene. This gene provides instructions for making a protein that is a transcription factor, which means that it attaches (binds) to specific regions of DNA and regulates the activity of other genes. Through this function, it is thought to help control several processes in t... | dystonia 6 |
Is dystonia 6 inherited ? | This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell can be sufficient to cause the disorder. Some people who inherit the altered gene never develop the condition, a situation known as reduced penetrance. | dystonia 6 |
What are the treatments for dystonia 6 ? | These resources address the diagnosis or management of dystonia 6: - Gene Review: Gene Review: Dystonia Overview - Genetic Testing Registry: Dystonia 6, torsion These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - ... | dystonia 6 |
What is (are) Ohdo syndrome, Maat-Kievit-Brunner type ? | The Maat-Kievit-Brunner type of Ohdo syndrome is a rare condition characterized by intellectual disability and distinctive facial features. It has only been reported in males. The intellectual disability associated with this condition varies from mild to severe, and the development of motor skills (such as sitting, st... | Ohdo syndrome, Maat-Kievit-Brunner type |
How many people are affected by Ohdo syndrome, Maat-Kievit-Brunner type ? | The Maat-Kievit-Brunner type of Ohdo syndrome is a very rare condition, with only a few affected individuals reported in the medical literature. | Ohdo syndrome, Maat-Kievit-Brunner type |
What are the genetic changes related to Ohdo syndrome, Maat-Kievit-Brunner type ? | The Maat-Kievit-Brunner type of Ohdo syndrome results from mutations in the MED12 gene. This gene provides instructions for making a protein that helps regulate gene activity; it is thought to play an essential role in development both before and after birth. The MED12 gene mutations that cause this condition alter the... | Ohdo syndrome, Maat-Kievit-Brunner type |
Is Ohdo syndrome, Maat-Kievit-Brunner type inherited ? | This condition is inherited in an X-linked recessive pattern. The MED12 gene is located on the X chromosome, which is one of the two sex chromosomes. In males (who have only one X chromosome), one altered copy of the gene in each cell is sufficient to cause the condition. In females (who have two X chromosomes), a muta... | Ohdo syndrome, Maat-Kievit-Brunner type |
What are the treatments for Ohdo syndrome, Maat-Kievit-Brunner type ? | These resources address the diagnosis or management of Ohdo syndrome, Maat-Kievit-Brunner type: - Genetic Testing Registry: Ohdo syndrome, X-linked These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Re... | Ohdo syndrome, Maat-Kievit-Brunner type |
What is (are) epidermal nevus ? | An epidermal nevus (plural: nevi) is an abnormal, noncancerous (benign) patch of skin caused by an overgrowth of skin cells. Epidermal nevi are typically seen at birth or develop in early childhood. They can be flat, tan patches of skin or raised, velvety patches. As the affected individual ages, the nevus can become t... | epidermal nevus |
How many people are affected by epidermal nevus ? | Epidermal nevi affect approximately 1 in 1,000 people. | epidermal nevus |
What are the genetic changes related to epidermal nevus ? | Mutations in the FGFR3 gene have been found in approximately 30 percent of people with a type of nevus in the keratinocytic epidermal nevi group. The gene mutations involved in most epidermal nevi are unknown. Mutations associated with an epidermal nevus are present only in the cells of the nevus, not in the normal sk... | epidermal nevus |
Is epidermal nevus inherited ? | This condition is generally not inherited but arises from mutations in the body's cells that occur after conception. This alteration is called a somatic mutation. Occasionally, the somatic mutation occurs in a person's reproductive cells (sperm or eggs) and is passed to the next generation. An inherited FGFR3 gene mut... | epidermal nevus |
What are the treatments for epidermal nevus ? | These resources address the diagnosis or management of epidermal nevus: - Genetic Testing Registry: Epidermal nevus These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseli... | epidermal nevus |
What is (are) infantile-onset ascending hereditary spastic paralysis ? | Infantile-onset ascending hereditary spastic paralysis is one of a group of genetic disorders known as hereditary spastic paraplegias. These disorders are characterized by progressive muscle stiffness (spasticity) and eventual paralysis of the lower limbs (paraplegia). The spasticity and paraplegia result from degenera... | infantile-onset ascending hereditary spastic paralysis |
How many people are affected by infantile-onset ascending hereditary spastic paralysis ? | Infantile-onset ascending hereditary spastic paralysis is a rare disorder, with at least 30 cases reported in the scientific literature. | infantile-onset ascending hereditary spastic paralysis |
What are the genetic changes related to infantile-onset ascending hereditary spastic paralysis ? | Infantile-onset ascending hereditary spastic paralysis is caused by mutations in the ALS2 gene. This gene provides instructions for making the alsin protein. Alsin is produced in a wide range of tissues, with highest amounts in the brain, particularly in motor neurons. Alsin turns on (activates) multiple proteins calle... | infantile-onset ascending hereditary spastic paralysis |
Is infantile-onset ascending hereditary spastic paralysis 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. | infantile-onset ascending hereditary spastic paralysis |
What are the treatments for infantile-onset ascending hereditary spastic paralysis ? | These resources address the diagnosis or management of infantile-onset ascending hereditary spastic paralysis: - Gene Review: Gene Review: ALS2-Related Disorders - Genetic Testing Registry: Infantile-onset ascending hereditary spastic paralysis These resources from MedlinePlus offer information about the diagnosis ... | infantile-onset ascending hereditary spastic paralysis |
What is (are) Pelizaeus-Merzbacher disease ? | Pelizaeus-Merzbacher disease is an inherited condition involving the brain and spinal cord (central nervous system). This disease is one of a group of genetic disorders called leukodystrophies. Leukodystrophies are characterized by degeneration of myelin, which is the covering that protects nerves and promotes the effi... | Pelizaeus-Merzbacher disease |
How many people are affected by Pelizaeus-Merzbacher disease ? | The prevalence of Pelizaeus-Merzbacher disease is estimated to be 1 in 200,000 to 500,000 males in the United States. This condition rarely affects females. | Pelizaeus-Merzbacher disease |
What are the genetic changes related to Pelizaeus-Merzbacher disease ? | Mutations in the PLP1 gene cause Pelizaeus-Merzbacher disease. The PLP1 gene provides instructions for producing proteolipid protein 1 and a modified version (isoform) of proteolipid protein 1, called DM20. Proteolipid protein 1 and DM20 are primarily located in the central nervous system and are the main proteins foun... | Pelizaeus-Merzbacher disease |
Is Pelizaeus-Merzbacher disease inherited ? | This condition is inherited in an X-linked recessive pattern. A condition is considered X-linked if the mutated gene that causes the disorder is located on the X chromosome, 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 co... | Pelizaeus-Merzbacher disease |
What are the treatments for Pelizaeus-Merzbacher disease ? | These resources address the diagnosis or management of Pelizaeus-Merzbacher disease: - Gene Review: Gene Review: PLP1-Related Disorders - Genetic Testing Registry: Pelizaeus-Merzbacher disease These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diag... | Pelizaeus-Merzbacher disease |
What is (are) arginine:glycine amidinotransferase deficiency ? | Arginine:glycine amidinotransferase deficiency is an inherited disorder that primarily affects the brain. People with this disorder have mild to moderate intellectual disability and delayed speech development. Some affected individuals develop autistic behaviors that affect communication and social interaction. They ma... | arginine:glycine amidinotransferase deficiency |
How many people are affected by arginine:glycine amidinotransferase deficiency ? | The prevalence of arginine:glycine amidinotransferase deficiency is unknown. The disorder has been identified in only a few families. | arginine:glycine amidinotransferase deficiency |
What are the genetic changes related to arginine:glycine amidinotransferase deficiency ? | Mutations in the GATM gene cause arginine:glycine amidinotransferase deficiency. The GATM gene provides instructions for making the enzyme arginine:glycine amidinotransferase. This enzyme participates in the two-step production (synthesis) of the compound creatine from the protein building blocks (amino acids) glycine,... | arginine:glycine amidinotransferase deficiency |
Is arginine:glycine amidinotransferase 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. | arginine:glycine amidinotransferase deficiency |
What are the treatments for arginine:glycine amidinotransferase deficiency ? | These resources address the diagnosis or management of arginine:glycine amidinotransferase deficiency: - Gene Review: Gene Review: Creatine Deficiency Syndromes - Genetic Testing Registry: Arginine:glycine amidinotransferase deficiency These resources from MedlinePlus offer information about the diagnosis and manag... | arginine:glycine amidinotransferase deficiency |
What is (are) Pendred syndrome ? | Pendred syndrome is a disorder typically associated with hearing loss and a thyroid condition called a goiter. A goiter is an enlargement of the thyroid gland, which is a butterfly-shaped organ at the base of the neck that produces hormones. If a goiter develops in a person with Pendred syndrome, it usually forms betwe... | Pendred syndrome |
How many people are affected by Pendred syndrome ? | The prevalence of Pendred syndrome is unknown. However, researchers estimate that it accounts for 7 to 8 percent of all hearing loss that is present from birth (congenital hearing loss). | Pendred syndrome |
What are the genetic changes related to Pendred syndrome ? | Mutations in the SLC26A4 gene cause about half of all cases of Pendred syndrome. The SLC26A4 gene provides instructions for making a protein called pendrin. This protein transports negatively charged particles (ions), including chloride, iodide, and bicarbonate, into and out of cells. Although the function of pendrin i... | Pendred syndrome |
Is Pendred 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. | Pendred syndrome |
What are the treatments for Pendred syndrome ? | These resources address the diagnosis or management of Pendred syndrome: - Children's Hospital of Philadelphia, Center for Childhood Communication - Gene Review: Gene Review: Pendred Syndrome/DFNB4 - Genetic Testing Registry: Pendred's syndrome - MedlinePlus Encyclopedia: Goiter - MedlinePlus Encyclopedia: Hearing... | Pendred syndrome |
What is (are) Poland syndrome ? | Poland syndrome is a disorder in which affected individuals are born with missing or underdeveloped muscles on one side of the body, resulting in abnormalities that can affect the chest, shoulder, arm, and hand. The extent and severity of the abnormalities vary among affected individuals. People with Poland syndrome a... | Poland syndrome |
How many people are affected by Poland syndrome ? | Poland syndrome has been estimated to occur in 1 in 20,000 newborns. For unknown reasons, this disorder occurs more than twice as often in males than in females. Poland syndrome may be underdiagnosed because mild cases without hand involvement may never come to medical attention. | Poland syndrome |
What are the genetic changes related to Poland syndrome ? | The cause of Poland syndrome is unknown. Researchers have suggested that it may result from a disruption of blood flow during development before birth. This disruption is thought to occur at about the sixth week of embryonic development and affect blood vessels that will become the subclavian and vertebral arteries on ... | Poland syndrome |
Is Poland syndrome inherited ? | Most cases of Poland syndrome are sporadic, which means they are not inherited and occur in people with no history of the disorder in their families. Rarely, this condition is passed through generations in families. In these families the condition appears to be inherited in an autosomal dominant pattern, which means on... | Poland syndrome |
What are the treatments for Poland syndrome ? | These resources address the diagnosis or management of Poland syndrome: - Children's Medical Center of Dallas - Great Ormond Street Hospital (UK): Treatment Options for Symbrachydactyly - St. Louis Children's Hospital: Chest Wall Deformities These resources from MedlinePlus offer information about the diagnosis an... | Poland syndrome |
What is (are) ataxia neuropathy spectrum ? | Ataxia neuropathy spectrum is part 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. Ataxia neuropathy spectrum now includes the conditions previously called mitochondrial recessi... | ataxia neuropathy spectrum |
How many people are affected by ataxia neuropathy spectrum ? | The prevalence of ataxia neuropathy spectrum is unknown. | ataxia neuropathy spectrum |
What are the genetic changes related to ataxia neuropathy spectrum ? | Ataxia neuropathy spectrum is caused by mutations in the POLG gene or, rarely, the C10orf2 gene. The POLG gene provides instructions for making one part, the alpha subunit, of a protein called polymerase gamma (pol ). The C10orf2 gene provides instructions for making a protein called Twinkle. Pol and Twinkle function... | ataxia neuropathy spectrum |
Is ataxia neuropathy spectrum inherited ? | Ataxia neuropathy spectrum can have different inheritance patterns depending on the associated gene. Mutations in the POLG gene cause a form of the condition that 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 autoso... | ataxia neuropathy spectrum |
What are the treatments for ataxia neuropathy spectrum ? | These resources address the diagnosis or management of ataxia neuropathy spectrum: - Gene Review: Gene Review: POLG-Related Disorders - Genetic Testing Registry: Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis - National Ataxia Foundation: Gene Testing for Hereditary Ataxia - United Mitochondrial Diseas... | ataxia neuropathy spectrum |
What is (are) Mabry syndrome ? | Mabry syndrome is a condition characterized by intellectual disability, distinctive facial features, increased levels of an enzyme called alkaline phosphatase in the blood (hyperphosphatasia), and other signs and symptoms. People with Mabry syndrome have intellectual disability that is often moderate to severe. They t... | Mabry syndrome |
How many people are affected by Mabry syndrome ? | Mabry syndrome is likely a rare condition, but its prevalence is unknown. More than 20 cases have been described in the scientific literature. | Mabry syndrome |
What are the genetic changes related to Mabry syndrome ? | Mutations in the PIGV, PIGO, or PGAP2 gene cause Mabry syndrome. These genes are all involved in the production (synthesis) of a molecule called a glycosylphosphosphatidylinositol (GPI) anchor. This molecule is synthesized in a series of steps. It then attaches (binds) to various proteins and binds them to the outer su... | Mabry syndrome |
Is Mabry 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. | Mabry syndrome |
What are the treatments for Mabry syndrome ? | These resources address the diagnosis or management of Mabry syndrome: - Genetic Testing Registry: Hyperphosphatasia with mental retardation syndrome - Genetic Testing Registry: Hyperphosphatasia with mental retardation syndrome 1 - Genetic Testing Registry: Hyperphosphatasia with mental retardation syndrome 2 - Ge... | Mabry syndrome |
What is (are) anhidrotic ectodermal dysplasia with immune deficiency ? | Anhidrotic ectodermal dysplasia with immune deficiency (EDA-ID) is a form of ectodermal dysplasia, which is a group of conditions characterized by abnormal development of ectodermal tissues including the skin, hair, teeth, and sweat glands. In addition, immune system function is reduced in people with EDA-ID. The signs... | anhidrotic ectodermal dysplasia with immune deficiency |
How many people are affected by anhidrotic ectodermal dysplasia with immune deficiency ? | The prevalence of the X-linked recessive type of EDA-ID is estimated to be 1 in 250,000 individuals. Only a few cases of the autosomal dominant form have been described in the scientific literature. | anhidrotic ectodermal dysplasia with immune deficiency |
What are the genetic changes related to anhidrotic ectodermal dysplasia with immune deficiency ? | Mutations in the IKBKG gene cause X-linked recessive EDA-ID, and mutations in the NFKBIA gene cause autosomal dominant EDA-ID. The proteins produced from these two genes regulate nuclear factor-kappa-B. Nuclear factor-kappa-B is a group of related proteins (a protein complex) that binds to DNA and controls the activity... | anhidrotic ectodermal dysplasia with immune deficiency |
Is anhidrotic ectodermal dysplasia with immune deficiency inherited ? | When EDA-ID is caused by mutations in the IKBKG gene, it is inherited in an X-linked recessive pattern. The IKBKG gene is located on the X chromosome, which is one of the two sex chromosomes. In males (who have only one X chromosome), one altered copy of the gene in each cell is sufficient to cause the condition. In fe... | anhidrotic ectodermal dysplasia with immune deficiency |
What are the treatments for anhidrotic ectodermal dysplasia with immune deficiency ? | These resources address the diagnosis or management of anhidrotic ectodermal dysplasia with immune deficiency: - Genetic Testing Registry: Anhidrotic ectodermal dysplasia with immune deficiency - Genetic Testing Registry: Hypohidrotic ectodermal dysplasia with immune deficiency - MedlinePlus Encyclopedia: Immunodefi... | anhidrotic ectodermal dysplasia with immune deficiency |
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... | hypophosphatasia |
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... | hypophosphatasia |
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... | hypophosphatasia |
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... | hypophosphatasia |
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... | hypophosphatasia |
Subsets and Splits
No community queries yet
The top public SQL queries from the community will appear here once available.