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X-linked chondrodysplasia punctata 2 is a disorder characterized by bone, skin, and eye abnormalities. It occurs almost exclusively in females. Although the signs and symptoms of this condition vary widely, almost all affected individuals have chondrodysplasia punctata, an abnormality that appears on x-rays as spots (s... | What are the genetic changes related to X-linked chondrodysplasia punctata 2 ? | X-linked chondrodysplasia punctata 2 is caused by mutations in the EBP gene. This gene provides instructions for making an enzyme called 3-hydroxysteroid-8,7-isomerase, which is responsible for one of the final steps in the production of cholesterol. Cholesterol is a waxy, fat-like substance that is produced in the bod... |
X-linked chondrodysplasia punctata 2 is a disorder characterized by bone, skin, and eye abnormalities. It occurs almost exclusively in females. Although the signs and symptoms of this condition vary widely, almost all affected individuals have chondrodysplasia punctata, an abnormality that appears on x-rays as spots (s... | Is X-linked chondrodysplasia punctata 2 inherited ? | This condition is inherited in an X-linked dominant pattern. The gene associated with this condition is located on the X chromosome, which is one of the two sex chromosomes. In females (who have two X chromosomes), a mutation in one of the two copies of the EBP gene in each cell is sufficient to cause the disorder. Som... |
X-linked chondrodysplasia punctata 2 is a disorder characterized by bone, skin, and eye abnormalities. It occurs almost exclusively in females. Although the signs and symptoms of this condition vary widely, almost all affected individuals have chondrodysplasia punctata, an abnormality that appears on x-rays as spots (s... | What are the treatments for X-linked chondrodysplasia punctata 2 ? | These resources address the diagnosis or management of X-linked chondrodysplasia punctata 2: - Gene Review: Gene Review: Chondrodysplasia Punctata 2, X-Linked - Genetic Testing Registry: Chondrodysplasia punctata 2 X-linked dominant These resources from MedlinePlus offer information about the diagnosis and manageme... |
Or, try one of these pages: If you need help, see our site map or contact us. | What is (are) DMD-associated dilated cardiomyopathy ? | DMD-associated dilated cardiomyopathy is a form of heart disease that is caused by mutations in the DMD gene. Dilated cardiomyopathy enlarges and weakens the heart (cardiac) muscle, preventing the heart from pumping blood efficiently. Signs and symptoms of this condition can include an irregular heartbeat (arrhythmia),... |
Or, try one of these pages: If you need help, see our site map or contact us. | How many people are affected by DMD-associated dilated cardiomyopathy ? | DMD-associated dilated cardiomyopathy appears to be an uncommon condition, although its prevalence is unknown. |
Or, try one of these pages: If you need help, see our site map or contact us. | What are the genetic changes related to DMD-associated dilated cardiomyopathy ? | DMD-associated dilated cardiomyopathy results from mutations in the DMD gene. This gene provides instructions for making a protein called dystrophin, which helps stabilize and protect muscle fibers and may play a role in chemical signaling within cells. The mutations responsible for DMD-associated dilated cardiomyopath... |
Or, try one of these pages: If you need help, see our site map or contact us. | Is DMD-associated dilated cardiomyopathy inherited ? | DMD-associated dilated cardiomyopathy has an X-linked pattern of inheritance. The DMD gene is located on the X chromosome, which is one of the two sex chromosomes. In females (who have two X chromosomes), a mutation in one of the two copies of the gene in each cell usually leads to relatively mild heart disease that ap... |
Or, try one of these pages: If you need help, see our site map or contact us. | What are the treatments for DMD-associated dilated cardiomyopathy ? | These resources address the diagnosis or management of DMD-associated dilated cardiomyopathy: - Gene Review: Gene Review: Dilated Cardiomyopathy Overview - Gene Review: Gene Review: Dystrophinopathies - Genetic Testing Registry: Dilated cardiomyopathy 3B - Genetic Testing Registry: Duchenne muscular dystrophy - Na... |
Ollier disease is a disorder characterized by multiple enchondromas, which are noncancerous (benign) growths of cartilage that develop within the bones. These growths most commonly occur in the limb bones, especially in the bones of the hands and feet; however, they may also occur in the skull, ribs, and bones of the s... | What is (are) Ollier disease ? | Ollier disease is a disorder characterized by multiple enchondromas, which are noncancerous (benign) growths of cartilage that develop within the bones. These growths most commonly occur in the limb bones, especially in the bones of the hands and feet; however, they may also occur in the skull, ribs, and bones of the s... |
Ollier disease is a disorder characterized by multiple enchondromas, which are noncancerous (benign) growths of cartilage that develop within the bones. These growths most commonly occur in the limb bones, especially in the bones of the hands and feet; however, they may also occur in the skull, ribs, and bones of the s... | How many people are affected by Ollier disease ? | Ollier disease is estimated to occur in 1 in 100,000 people. |
Ollier disease is a disorder characterized by multiple enchondromas, which are noncancerous (benign) growths of cartilage that develop within the bones. These growths most commonly occur in the limb bones, especially in the bones of the hands and feet; however, they may also occur in the skull, ribs, and bones of the s... | What are the genetic changes related to Ollier disease ? | In most people with Ollier disease, the disorder is caused by mutations in the IDH1 or IDH2 gene. These genes provide instructions for making enzymes called isocitrate dehydrogenase 1 and isocitrate dehydrogenase 2, respectively. These enzymes convert a compound called isocitrate to another compound called 2-ketoglutar... |
Ollier disease is a disorder characterized by multiple enchondromas, which are noncancerous (benign) growths of cartilage that develop within the bones. These growths most commonly occur in the limb bones, especially in the bones of the hands and feet; however, they may also occur in the skull, ribs, and bones of the s... | Is Ollier disease inherited ? | Ollier disease is not inherited. The mutations that cause this disorder are somatic, which means they occur during a person's lifetime. A somatic mutation occurs in a single cell. As that cell continues to grow and divide, the cells derived from it also have the same mutation. In Ollier disease, the mutation is thought... |
Ollier disease is a disorder characterized by multiple enchondromas, which are noncancerous (benign) growths of cartilage that develop within the bones. These growths most commonly occur in the limb bones, especially in the bones of the hands and feet; however, they may also occur in the skull, ribs, and bones of the s... | What are the treatments for Ollier disease ? | These resources address the diagnosis or management of Ollier disease: - Genetic Testing Registry: Enchondromatosis These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseli... |
Timothy syndrome is a rare disorder that primarily affects the heart but can affect many other areas of the body. The severity of this condition varies among affected individuals, although it is often life-threatening. Timothy syndrome is characterized by a heart condition called long QT syndrome, which causes the hear... | What is (are) Timothy syndrome ? | Timothy syndrome is a rare disorder that affects many parts of the body including the heart, digits (fingers and toes), and the nervous system. Timothy syndrome is characterized by a heart condition called long QT syndrome, which causes the heart (cardiac) muscle to take longer than usual to recharge between beats. Th... |
Timothy syndrome is a rare disorder that primarily affects the heart but can affect many other areas of the body. The severity of this condition varies among affected individuals, although it is often life-threatening. Timothy syndrome is characterized by a heart condition called long QT syndrome, which causes the hear... | How many people are affected by Timothy syndrome ? | Timothy syndrome is a rare condition; fewer than 20 people with this disorder have been reported worldwide. The classic type of Timothy syndrome appears to be more common than the atypical type, which has been identified in only two individuals. |
Timothy syndrome is a rare disorder that primarily affects the heart but can affect many other areas of the body. The severity of this condition varies among affected individuals, although it is often life-threatening. Timothy syndrome is characterized by a heart condition called long QT syndrome, which causes the hear... | What are the genetic changes related to Timothy syndrome ? | Mutations in the CACNA1C gene are responsible for all reported cases of Timothy syndrome. This gene provides instructions for making a protein that acts as a channel across cell membranes. This channel, known as CaV1.2, is one of several channels that transport positively charged calcium atoms (calcium ions) into cells... |
Timothy syndrome is a rare disorder that primarily affects the heart but can affect many other areas of the body. The severity of this condition varies among affected individuals, although it is often life-threatening. Timothy syndrome is characterized by a heart condition called long QT syndrome, which causes the hear... | Is Timothy syndrome inherited ? | This condition is considered to have an autosomal dominant pattern of inheritance, which means one copy of the altered CACNA1C gene in each cell is sufficient to cause the disorder. Most cases result from new mutations in the gene, and occur in people with no history of the disorder in their family. Less commonly, peop... |
Timothy syndrome is a rare disorder that primarily affects the heart but can affect many other areas of the body. The severity of this condition varies among affected individuals, although it is often life-threatening. Timothy syndrome is characterized by a heart condition called long QT syndrome, which causes the hear... | What are the treatments for Timothy syndrome ? | These resources address the diagnosis or management of Timothy syndrome: - Gene Review: Gene Review: Timothy Syndrome - Genetic Testing Registry: Timothy syndrome - MedlinePlus Encyclopedia: Arrhythmias - MedlinePlus Encyclopedia: Congenital Heart Disease - MedlinePlus Encyclopedia: Webbing of the Fingers or Toes ... |
Very long-chain acyl-CoA dehydrogenase (VLCAD) deficiency is a condition that prevents the body from converting certain fats to energy, particularly during periods without food (fasting). Signs and symptoms of VLCAD deficiency typically appear during infancy or early childhood and can include low blood sugar (hypoglyce... | What is (are) very long-chain acyl-CoA dehydrogenase deficiency ? | Very long-chain acyl-CoA dehydrogenase (VLCAD) deficiency is a condition that prevents the body from converting certain fats to energy, particularly during periods without food (fasting). Signs and symptoms of VLCAD deficiency typically appear during infancy or early childhood and can include low blood sugar (hypoglyc... |
Very long-chain acyl-CoA dehydrogenase (VLCAD) deficiency is a condition that prevents the body from converting certain fats to energy, particularly during periods without food (fasting). Signs and symptoms of VLCAD deficiency typically appear during infancy or early childhood and can include low blood sugar (hypoglyce... | How many people are affected by very long-chain acyl-CoA dehydrogenase deficiency ? | VLCAD deficiency is estimated to affect 1 in 40,000 to 120,000 people. |
Very long-chain acyl-CoA dehydrogenase (VLCAD) deficiency is a condition that prevents the body from converting certain fats to energy, particularly during periods without food (fasting). Signs and symptoms of VLCAD deficiency typically appear during infancy or early childhood and can include low blood sugar (hypoglyce... | What are the genetic changes related to very long-chain acyl-CoA dehydrogenase deficiency ? | Mutations in the ACADVL gene cause VLCAD deficiency. This gene provides instructions for making an enzyme called very long-chain acyl-CoA dehydrogenase, which is required to break down (metabolize) a group of fats called very long-chain fatty acids. These fatty acids are found in foods and the body's fat tissues. Fatty... |
Very long-chain acyl-CoA dehydrogenase (VLCAD) deficiency is a condition that prevents the body from converting certain fats to energy, particularly during periods without food (fasting). Signs and symptoms of VLCAD deficiency typically appear during infancy or early childhood and can include low blood sugar (hypoglyce... | Is very long-chain acyl-CoA dehydrogenase 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. |
Very long-chain acyl-CoA dehydrogenase (VLCAD) deficiency is a condition that prevents the body from converting certain fats to energy, particularly during periods without food (fasting). Signs and symptoms of VLCAD deficiency typically appear during infancy or early childhood and can include low blood sugar (hypoglyce... | What are the treatments for very long-chain acyl-CoA dehydrogenase deficiency ? | These resources address the diagnosis or management of VLCAD deficiency: - Baby's First Test - Gene Review: Gene Review: Very Long-Chain Acyl-Coenzyme A Dehydrogenase Deficiency - Genetic Testing Registry: Very long chain acyl-CoA dehydrogenase deficiency - MedlinePlus Encyclopedia: Newborn Screening Tests These ... |
CHST3-related skeletal dysplasia is a genetic condition characterized by bone and joint abnormalities that worsen over time. Affected individuals have short stature throughout life, with an adult height under 4 and a half feet. Joint dislocations, most often affecting the knees, hips, and elbows, are present at birth (... | What is (are) CHST3-related skeletal dysplasia ? | CHST3-related skeletal dysplasia is a genetic condition characterized by bone and joint abnormalities that worsen over time. Affected individuals have short stature throughout life, with an adult height under 4 and a half feet. Joint dislocations, most often affecting the knees, hips, and elbows, are present at birth (... |
CHST3-related skeletal dysplasia is a genetic condition characterized by bone and joint abnormalities that worsen over time. Affected individuals have short stature throughout life, with an adult height under 4 and a half feet. Joint dislocations, most often affecting the knees, hips, and elbows, are present at birth (... | How many people are affected by CHST3-related skeletal dysplasia ? | The prevalence of CHST3-related skeletal dysplasia is unknown. More than 30 affected individuals have been reported. |
CHST3-related skeletal dysplasia is a genetic condition characterized by bone and joint abnormalities that worsen over time. Affected individuals have short stature throughout life, with an adult height under 4 and a half feet. Joint dislocations, most often affecting the knees, hips, and elbows, are present at birth (... | What are the genetic changes related to CHST3-related skeletal dysplasia ? | As its name suggests, CHST3-related skeletal dysplasia results from mutations in the CHST3 gene. This gene provides instructions for making an enzyme called C6ST-1, which is essential for the normal development of cartilage. Cartilage is a tough, flexible tissue that makes up much of the skeleton during early developme... |
CHST3-related skeletal dysplasia is a genetic condition characterized by bone and joint abnormalities that worsen over time. Affected individuals have short stature throughout life, with an adult height under 4 and a half feet. Joint dislocations, most often affecting the knees, hips, and elbows, are present at birth (... | Is CHST3-related skeletal 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. |
CHST3-related skeletal dysplasia is a genetic condition characterized by bone and joint abnormalities that worsen over time. Affected individuals have short stature throughout life, with an adult height under 4 and a half feet. Joint dislocations, most often affecting the knees, hips, and elbows, are present at birth (... | What are the treatments for CHST3-related skeletal dysplasia ? | These resources address the diagnosis or management of CHST3-related skeletal dysplasia: - Gene Review: Gene Review: CHST3-Related Skeletal Dysplasia - Genetic Testing Registry: Spondyloepiphyseal dysplasia with congenital joint dislocations These resources from MedlinePlus offer information about the diagnosis and... |
Recombinant 8 syndrome is a condition that involves complex congenital heart abnormalities, urinary tract abnormalities, moderate to severe intellectual disability, abnormal muscle tone, and a distinctive facial appearance. The most common heart abnormalities are known as tetrology of Fallot and conotruncal defects. ... | What is (are) recombinant 8 syndrome ? | Recombinant 8 syndrome is a condition that involves heart and urinary tract abnormalities, moderate to severe intellectual disability, and a distinctive facial appearance. The characteristic facial features include a wide, square face; a thin upper lip; a downturned mouth; a small chin (micrognathia); wide-set eyes (hy... |
Recombinant 8 syndrome is a condition that involves complex congenital heart abnormalities, urinary tract abnormalities, moderate to severe intellectual disability, abnormal muscle tone, and a distinctive facial appearance. The most common heart abnormalities are known as tetrology of Fallot and conotruncal defects. ... | How many people are affected by recombinant 8 syndrome ? | Recombinant 8 syndrome is a rare condition; its exact incidence is unknown. Most people with this condition are descended from a Hispanic population originating in the San Luis Valley area of southern Colorado and northern New Mexico. Recombinant 8 syndrome is also called San Luis Valley syndrome. Only a few cases outs... |
Recombinant 8 syndrome is a condition that involves complex congenital heart abnormalities, urinary tract abnormalities, moderate to severe intellectual disability, abnormal muscle tone, and a distinctive facial appearance. The most common heart abnormalities are known as tetrology of Fallot and conotruncal defects. ... | What are the genetic changes related to recombinant 8 syndrome ? | Recombinant 8 syndrome is caused by a rearrangement of chromosome 8 that results in a deletion of a piece of the short (p) arm and a duplication of a piece of the long (q) arm. The deletion and duplication result in the recombinant 8 chromosome. The signs and symptoms of recombinant 8 syndrome are related to the loss a... |
Recombinant 8 syndrome is a condition that involves complex congenital heart abnormalities, urinary tract abnormalities, moderate to severe intellectual disability, abnormal muscle tone, and a distinctive facial appearance. The most common heart abnormalities are known as tetrology of Fallot and conotruncal defects. ... | Is recombinant 8 syndrome inherited ? | This condition is inherited in an autosomal dominant pattern, which means one copy of the recombinant chromosome 8 in each cell is sufficient to cause the disorder. Most people with recombinant 8 syndrome have at least one parent with a change in chromosome 8 called an inversion. An inversion involves the breakage of ... |
Recombinant 8 syndrome is a condition that involves complex congenital heart abnormalities, urinary tract abnormalities, moderate to severe intellectual disability, abnormal muscle tone, and a distinctive facial appearance. The most common heart abnormalities are known as tetrology of Fallot and conotruncal defects. ... | What are the treatments for recombinant 8 syndrome ? | These resources address the diagnosis or management of recombinant 8 syndrome: - Genetic Testing Registry: Recombinant chromosome 8 syndrome These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilit... |
Autosomal recessive spastic ataxia of Charlevoix-Saguenay, more commonly known as ARSACS, is a condition affecting muscle movement. People with ARSACS typically have abnormal tensing of the muscles (spasticity), problems with balance and coordination (cerebellar ataxia), and reduced sensation and weakness in the arms a... | What is (are) autosomal recessive spastic ataxia of Charlevoix-Saguenay ? | Autosomal recessive spastic ataxia of Charlevoix-Saguenay, more commonly known as ARSACS, is a condition affecting muscle movement. People with ARSACS typically have abnormal tensing of the muscles (spasticity), difficulty coordinating movements (ataxia), muscle wasting (amyotrophy), involuntary eye movements (nystagmu... |
Autosomal recessive spastic ataxia of Charlevoix-Saguenay, more commonly known as ARSACS, is a condition affecting muscle movement. People with ARSACS typically have abnormal tensing of the muscles (spasticity), problems with balance and coordination (cerebellar ataxia), and reduced sensation and weakness in the arms a... | How many people are affected by autosomal recessive spastic ataxia of Charlevoix-Saguenay ? | The incidence of ARSACS in the Charlevoix-Saguenay region of Quebec is estimated to be 1 in 1,500 to 2,000 individuals. Outside of Quebec, ARSACS is rare, but the incidence is unknown. |
Autosomal recessive spastic ataxia of Charlevoix-Saguenay, more commonly known as ARSACS, is a condition affecting muscle movement. People with ARSACS typically have abnormal tensing of the muscles (spasticity), problems with balance and coordination (cerebellar ataxia), and reduced sensation and weakness in the arms a... | What are the genetic changes related to autosomal recessive spastic ataxia of Charlevoix-Saguenay ? | Mutations in the SACS gene cause ARSACS. The SACS gene provides instructions for producing a protein called sacsin. Sacsin is found in the brain, skin cells, muscles used for movement (skeletal muscles), and at low levels in the pancreas, but the specific function of the protein is unknown. Research suggests that sacsi... |
Autosomal recessive spastic ataxia of Charlevoix-Saguenay, more commonly known as ARSACS, is a condition affecting muscle movement. People with ARSACS typically have abnormal tensing of the muscles (spasticity), problems with balance and coordination (cerebellar ataxia), and reduced sensation and weakness in the arms a... | Is autosomal recessive spastic ataxia of Charlevoix-Saguenay 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. |
Autosomal recessive spastic ataxia of Charlevoix-Saguenay, more commonly known as ARSACS, is a condition affecting muscle movement. People with ARSACS typically have abnormal tensing of the muscles (spasticity), problems with balance and coordination (cerebellar ataxia), and reduced sensation and weakness in the arms a... | What are the treatments for autosomal recessive spastic ataxia of Charlevoix-Saguenay ? | These resources address the diagnosis or management of ARSACS: - Gene Review: Gene Review: ARSACS - Genetic Testing Registry: Spastic ataxia Charlevoix-Saguenay type These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therap... |
Baller-Gerold syndrome is a rare condition characterized by the premature fusion of certain skull bones (craniosynostosis) and abnormalities of bones in the arms and hands. People with Baller-Gerold syndrome have prematurely fused skull bones, most often along the coronal suture, the growth line that goes over the head... | What is (are) Baller-Gerold syndrome ? | Baller-Gerold syndrome is a rare condition characterized by the premature fusion of certain skull bones (craniosynostosis) and abnormalities of bones in the arms and hands. People with Baller-Gerold syndrome have prematurely fused skull bones, most often along the coronal suture, the growth line that goes over the hea... |
Baller-Gerold syndrome is a rare condition characterized by the premature fusion of certain skull bones (craniosynostosis) and abnormalities of bones in the arms and hands. People with Baller-Gerold syndrome have prematurely fused skull bones, most often along the coronal suture, the growth line that goes over the head... | How many people are affected by Baller-Gerold syndrome ? | The prevalence of Baller-Gerold syndrome is unknown, but this rare condition probably affects fewer than 1 per million people. Fewer than 40 cases have been reported in the medical literature. |
Baller-Gerold syndrome is a rare condition characterized by the premature fusion of certain skull bones (craniosynostosis) and abnormalities of bones in the arms and hands. People with Baller-Gerold syndrome have prematurely fused skull bones, most often along the coronal suture, the growth line that goes over the head... | What are the genetic changes related to Baller-Gerold syndrome ? | Mutations in the RECQL4 gene cause some cases of Baller-Gerold syndrome. This gene provides instructions for making one member of a protein family called RecQ helicases. Helicases are enzymes that bind to DNA and temporarily unwind the two spiral strands (double helix) of the DNA molecule. This unwinding is necessary f... |
Baller-Gerold syndrome is a rare condition characterized by the premature fusion of certain skull bones (craniosynostosis) and abnormalities of bones in the arms and hands. People with Baller-Gerold syndrome have prematurely fused skull bones, most often along the coronal suture, the growth line that goes over the head... | Is Baller-Gerold 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. |
Baller-Gerold syndrome is a rare condition characterized by the premature fusion of certain skull bones (craniosynostosis) and abnormalities of bones in the arms and hands. People with Baller-Gerold syndrome have prematurely fused skull bones, most often along the coronal suture, the growth line that goes over the head... | What are the treatments for Baller-Gerold syndrome ? | These resources address the diagnosis or management of Baller-Gerold syndrome: - Gene Review: Gene Review: Baller-Gerold Syndrome - Genetic Testing Registry: Baller-Gerold syndrome - MedlinePlus Encyclopedia: Craniosynostosis - MedlinePlus Encyclopedia: Skull of a Newborn (image) These resources from MedlinePlus ... |
Kleefstra syndrome is a disorder that involves many parts of the body. Characteristic features of Kleefstra syndrome include developmental delay and intellectual disability, severely limited or absent speech, and weak muscle tone (hypotonia). Affected individuals also have an unusually small head size (microcephaly) an... | What is (are) Kleefstra syndrome ? | Kleefstra syndrome is a disorder that involves many parts of the body. Characteristic features of Kleefstra syndrome include developmental delay and intellectual disability, severely limited or absent speech, and weak muscle tone (hypotonia). Affected individuals also have an unusually small head size (microcephaly) an... |
Kleefstra syndrome is a disorder that involves many parts of the body. Characteristic features of Kleefstra syndrome include developmental delay and intellectual disability, severely limited or absent speech, and weak muscle tone (hypotonia). Affected individuals also have an unusually small head size (microcephaly) an... | How many people are affected by Kleefstra syndrome ? | The prevalence of Kleefstra syndrome is unknown. Only recently has testing become available to distinguish it from other disorders with similar features. |
Kleefstra syndrome is a disorder that involves many parts of the body. Characteristic features of Kleefstra syndrome include developmental delay and intellectual disability, severely limited or absent speech, and weak muscle tone (hypotonia). Affected individuals also have an unusually small head size (microcephaly) an... | What are the genetic changes related to Kleefstra syndrome ? | Kleefstra syndrome is caused by the loss of the EHMT1 gene or by mutations that disable its function. The EHMT1 gene provides instructions for making an enzyme called euchromatic histone methyltransferase 1. Histone methyltransferases are enzymes that modify proteins called histones. Histones are structural proteins th... |
Kleefstra syndrome is a disorder that involves many parts of the body. Characteristic features of Kleefstra syndrome include developmental delay and intellectual disability, severely limited or absent speech, and weak muscle tone (hypotonia). Affected individuals also have an unusually small head size (microcephaly) an... | Is Kleefstra syndrome inherited ? | The inheritance of Kleefstra syndrome is considered to be autosomal dominant because a deletion in one copy of chromosome 9 in each cell or a mutation in one copy of the EHMT1 gene is sufficient to cause the condition. Most cases of Kleefstra syndrome are not inherited, however. The genetic change occurs most often as ... |
Kleefstra syndrome is a disorder that involves many parts of the body. Characteristic features of Kleefstra syndrome include developmental delay and intellectual disability, severely limited or absent speech, and weak muscle tone (hypotonia). Affected individuals also have an unusually small head size (microcephaly) an... | What are the treatments for Kleefstra syndrome ? | These resources address the diagnosis or management of Kleefstra syndrome: - Gene Review: Gene Review: Kleefstra Syndrome - Genetic Testing Registry: Chromosome 9q deletion syndrome These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Test... |
Myotonia congenita is a disorder that affects muscles used for movement (skeletal muscles). Beginning in childhood, people with this condition experience bouts of sustained muscle tensing (myotonia) that prevent muscles from relaxing normally. Although myotonia can affect any skeletal muscles, including muscles of the... | What is (are) myotonia congenita ? | Myotonia congenita is a disorder that affects muscles used for movement (skeletal muscles). Beginning in childhood, people with this condition experience bouts of sustained muscle tensing (myotonia) that prevent muscles from relaxing normally. Although myotonia can affect any skeletal muscles, including muscles of the ... |
Myotonia congenita is a disorder that affects muscles used for movement (skeletal muscles). Beginning in childhood, people with this condition experience bouts of sustained muscle tensing (myotonia) that prevent muscles from relaxing normally. Although myotonia can affect any skeletal muscles, including muscles of the... | How many people are affected by myotonia congenita ? | Myotonia congenita is estimated to affect 1 in 100,000 people worldwide. This condition is more common in northern Scandinavia, where it occurs in approximately 1 in 10,000 people. |
Myotonia congenita is a disorder that affects muscles used for movement (skeletal muscles). Beginning in childhood, people with this condition experience bouts of sustained muscle tensing (myotonia) that prevent muscles from relaxing normally. Although myotonia can affect any skeletal muscles, including muscles of the... | What are the genetic changes related to myotonia congenita ? | Mutations in the CLCN1 gene cause myotonia congenita. The CLCN1 gene provides instructions for making a protein that is critical for the normal function of skeletal muscle cells. For the body to move normally, skeletal muscles must tense (contract) and relax in a coordinated way. Muscle contraction and relaxation are ... |
Myotonia congenita is a disorder that affects muscles used for movement (skeletal muscles). Beginning in childhood, people with this condition experience bouts of sustained muscle tensing (myotonia) that prevent muscles from relaxing normally. Although myotonia can affect any skeletal muscles, including muscles of the... | Is myotonia congenita inherited ? | The two forms of myotonia congenita have different patterns of inheritance. Thomsen disease is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In most cases, an affected person has one parent with the condition. Becker disease is in... |
Myotonia congenita is a disorder that affects muscles used for movement (skeletal muscles). Beginning in childhood, people with this condition experience bouts of sustained muscle tensing (myotonia) that prevent muscles from relaxing normally. Although myotonia can affect any skeletal muscles, including muscles of the... | What are the treatments for myotonia congenita ? | These resources address the diagnosis or management of myotonia congenita: - Gene Review: Gene Review: Myotonia Congenita - Genetic Testing Registry: Congenital myotonia, autosomal dominant form - Genetic Testing Registry: Congenital myotonia, autosomal recessive form - Genetic Testing Registry: Myotonia congenita ... |
Smith-Magenis syndrome is a developmental disorder that affects many parts of the body. The major features of this condition include mild to moderate intellectual disability, delayed speech and language skills, distinctive facial features, sleep disturbances, and behavioral problems. Most people with Smith-Magenis synd... | What is (are) Smith-Magenis syndrome ? | Smith-Magenis syndrome is a developmental disorder that affects many parts of the body. The major features of this condition include mild to moderate intellectual disability, delayed speech and language skills, distinctive facial features, sleep disturbances, and behavioral problems. Most people with Smith-Magenis syn... |
Smith-Magenis syndrome is a developmental disorder that affects many parts of the body. The major features of this condition include mild to moderate intellectual disability, delayed speech and language skills, distinctive facial features, sleep disturbances, and behavioral problems. Most people with Smith-Magenis synd... | How many people are affected by Smith-Magenis syndrome ? | Smith-Magenis syndrome affects at least 1 in 25,000 individuals worldwide. Researchers believe that many people with this condition are not diagnosed, however, so the true prevalence may be closer to 1 in 15,000 individuals. |
Smith-Magenis syndrome is a developmental disorder that affects many parts of the body. The major features of this condition include mild to moderate intellectual disability, delayed speech and language skills, distinctive facial features, sleep disturbances, and behavioral problems. Most people with Smith-Magenis synd... | What are the genetic changes related to Smith-Magenis syndrome ? | Most people with Smith-Magenis syndrome have a deletion of genetic material from a specific region of chromosome 17. Although this region contains multiple genes, researchers believe that the loss of one particular gene, RAI1, in each cell is responsible for most of the characteristic features of this condition. The lo... |
Smith-Magenis syndrome is a developmental disorder that affects many parts of the body. The major features of this condition include mild to moderate intellectual disability, delayed speech and language skills, distinctive facial features, sleep disturbances, and behavioral problems. Most people with Smith-Magenis synd... | Is Smith-Magenis syndrome inherited ? | Smith-Magenis syndrome is typically not inherited. This condition usually results from a genetic change that occurs during the formation of reproductive cells (eggs or sperm) or in early fetal development. Most often, people with Smith-Magenis syndrome have no history of the condition in their family. |
Smith-Magenis syndrome is a developmental disorder that affects many parts of the body. The major features of this condition include mild to moderate intellectual disability, delayed speech and language skills, distinctive facial features, sleep disturbances, and behavioral problems. Most people with Smith-Magenis synd... | What are the treatments for Smith-Magenis syndrome ? | These resources address the diagnosis or management of Smith-Magenis syndrome: - Gene Review: Gene Review: Smith-Magenis Syndrome - Genetic Testing Registry: Smith-Magenis syndrome - MedlinePlus Encyclopedia: Intellectual Disability These resources from MedlinePlus offer information about the diagnosis and managem... |
Lattice corneal dystrophy type I is an eye disorder that affects the clear, outer covering of the eye called the cornea. The cornea must remain clear for an individual to see properly; however, in lattice corneal dystrophy type I, protein clumps known as amyloid deposits cloud the cornea, which leads to vision impairme... | What is (are) lattice corneal dystrophy type I ? | Lattice corneal dystrophy type I is an eye disorder that affects the clear, outer covering of the eye called the cornea. The cornea must remain clear for an individual to see properly; however, in lattice corneal dystrophy type I, protein clumps known as amyloid deposits cloud the cornea, which leads to vision impairme... |
Lattice corneal dystrophy type I is an eye disorder that affects the clear, outer covering of the eye called the cornea. The cornea must remain clear for an individual to see properly; however, in lattice corneal dystrophy type I, protein clumps known as amyloid deposits cloud the cornea, which leads to vision impairme... | How many people are affected by lattice corneal dystrophy type I ? | Lattice corneal dystrophy type I is one of the most common disorders in a group of conditions that are characterized by protein deposits in the cornea (corneal dystrophies); however, it is still a rare condition. The prevalence of lattice corneal dystrophy type I is unknown. |
Lattice corneal dystrophy type I is an eye disorder that affects the clear, outer covering of the eye called the cornea. The cornea must remain clear for an individual to see properly; however, in lattice corneal dystrophy type I, protein clumps known as amyloid deposits cloud the cornea, which leads to vision impairme... | What are the genetic changes related to lattice corneal dystrophy type I ? | Lattice corneal dystrophy type I is caused by mutations in the TGFBI gene. This gene provides instructions for making a protein that is found in many tissues throughout the body, including the cornea. The TGFBI protein is part of the extracellular matrix, an intricate network that forms in the spaces between cells and ... |
Lattice corneal dystrophy type I is an eye disorder that affects the clear, outer covering of the eye called the cornea. The cornea must remain clear for an individual to see properly; however, in lattice corneal dystrophy type I, protein clumps known as amyloid deposits cloud the cornea, which leads to vision impairme... | Is lattice corneal dystrophy type I 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. |
Lattice corneal dystrophy type I is an eye disorder that affects the clear, outer covering of the eye called the cornea. The cornea must remain clear for an individual to see properly; however, in lattice corneal dystrophy type I, protein clumps known as amyloid deposits cloud the cornea, which leads to vision impairme... | What are the treatments for lattice corneal dystrophy type I ? | These resources address the diagnosis or management of lattice corneal dystrophy type I: - American Foundation for the Blind: Living with Vision Loss - Genetic Testing Registry: Lattice corneal dystrophy Type I - Merck Manual Home Health Edition: Diagnosis of Eye Disorders: Slit-Lamp Examination These resources fr... |
Piebaldism is a condition characterized by the absence of cells called melanocytes in certain areas of the skin and hair. Melanocytes produce the pigment melanin, which contributes to hair, eye, and skin color. The absence of melanocytes leads to patches of skin and hair that are lighter than normal. Approximately 90 ... | What is (are) piebaldism ? | Piebaldism is a condition characterized by the absence of cells called melanocytes in certain areas of the skin and hair. Melanocytes produce the pigment melanin, which contributes to hair, eye, and skin color. The absence of melanocytes leads to patches of skin and hair that are lighter than normal. Approximately 90 p... |
Piebaldism is a condition characterized by the absence of cells called melanocytes in certain areas of the skin and hair. Melanocytes produce the pigment melanin, which contributes to hair, eye, and skin color. The absence of melanocytes leads to patches of skin and hair that are lighter than normal. Approximately 90 ... | How many people are affected by piebaldism ? | The prevalence of piebaldism is unknown. |
Piebaldism is a condition characterized by the absence of cells called melanocytes in certain areas of the skin and hair. Melanocytes produce the pigment melanin, which contributes to hair, eye, and skin color. The absence of melanocytes leads to patches of skin and hair that are lighter than normal. Approximately 90 ... | What are the genetic changes related to piebaldism ? | Piebaldism can be caused by mutations in the KIT and SNAI2 genes. Piebaldism may also be a feature of other conditions, such as Waardenburg syndrome; these conditions have other genetic causes and additional signs and symptoms. The KIT gene provides instructions for making a protein that is involved in signaling withi... |
Piebaldism is a condition characterized by the absence of cells called melanocytes in certain areas of the skin and hair. Melanocytes produce the pigment melanin, which contributes to hair, eye, and skin color. The absence of melanocytes leads to patches of skin and hair that are lighter than normal. Approximately 90 ... | Is piebaldism 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. |
Piebaldism is a condition characterized by the absence of cells called melanocytes in certain areas of the skin and hair. Melanocytes produce the pigment melanin, which contributes to hair, eye, and skin color. The absence of melanocytes leads to patches of skin and hair that are lighter than normal. Approximately 90 ... | What are the treatments for piebaldism ? | These resources address the diagnosis or management of piebaldism: - Genetic Testing Registry: Partial albinism These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling ... |
Essential pentosuria is a condition characterized by high levels of a sugar called L-xylulose in urine. The condition is so named because L-xylulose is a type of sugar called a pentose. Despite the excess sugar, affected individuals have no associated health problems. Essential pentosuria occurs almost exclusively in i... | What is (are) essential pentosuria ? | Essential pentosuria is a condition characterized by high levels of a sugar called L-xylulose in urine. The condition is so named because L-xylulose is a type of sugar called a pentose. Despite the excess sugar, affected individuals have no associated health problems. |
Essential pentosuria is a condition characterized by high levels of a sugar called L-xylulose in urine. The condition is so named because L-xylulose is a type of sugar called a pentose. Despite the excess sugar, affected individuals have no associated health problems. Essential pentosuria occurs almost exclusively in i... | How many people are affected by essential pentosuria ? | Essential pentosuria occurs almost exclusively in individuals with Ashkenazi Jewish ancestry. Approximately 1 in 3,300 people in this population are affected. |
Essential pentosuria is a condition characterized by high levels of a sugar called L-xylulose in urine. The condition is so named because L-xylulose is a type of sugar called a pentose. Despite the excess sugar, affected individuals have no associated health problems. Essential pentosuria occurs almost exclusively in i... | What are the genetic changes related to essential pentosuria ? | Essential pentosuria is caused by mutations in the DCXR gene. This gene provides instructions for making a protein called dicarbonyl/L-xylulose reductase (DCXR), which plays multiple roles in the body. One of its functions is to perform a chemical reaction that converts a sugar called L-xylulose to a molecule called xy... |
Essential pentosuria is a condition characterized by high levels of a sugar called L-xylulose in urine. The condition is so named because L-xylulose is a type of sugar called a pentose. Despite the excess sugar, affected individuals have no associated health problems. Essential pentosuria occurs almost exclusively in i... | Is essential pentosuria 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. |
Essential pentosuria is a condition characterized by high levels of a sugar called L-xylulose in urine. The condition is so named because L-xylulose is a type of sugar called a pentose. Despite the excess sugar, affected individuals have no associated health problems. Essential pentosuria occurs almost exclusively in i... | What are the treatments for essential pentosuria ? | These resources address the diagnosis or management of essential pentosuria: - Genetic Testing Registry: Essential pentosuria These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Geneti... |
Melnick-Needles syndrome is a disorder involving abnormalities in skeletal development and other health problems. It is a member of a group of related conditions called otopalatodigital spectrum disorders, which also includes otopalatodigital syndrome type 1, otopalatodigital syndrome type 2, frontometaphyseal dysplasi... | What is (are) Melnick-Needles syndrome ? | Melnick-Needles syndrome is a disorder involving abnormalities in skeletal development and other health problems. It is a member of a group of related conditions called otopalatodigital spectrum disorders, which also includes otopalatodigital syndrome type 1, otopalatodigital syndrome type 2, and frontometaphyseal dysp... |
Melnick-Needles syndrome is a disorder involving abnormalities in skeletal development and other health problems. It is a member of a group of related conditions called otopalatodigital spectrum disorders, which also includes otopalatodigital syndrome type 1, otopalatodigital syndrome type 2, frontometaphyseal dysplasi... | How many people are affected by Melnick-Needles syndrome ? | Melnick-Needles syndrome is a rare disorder; fewer than 100 cases have been reported worldwide. |
Melnick-Needles syndrome is a disorder involving abnormalities in skeletal development and other health problems. It is a member of a group of related conditions called otopalatodigital spectrum disorders, which also includes otopalatodigital syndrome type 1, otopalatodigital syndrome type 2, frontometaphyseal dysplasi... | What are the genetic changes related to Melnick-Needles syndrome ? | Mutations in the FLNA gene cause Melnick-Needles syndrome. The FLNA gene provides instructions for producing the protein filamin A, which helps build the network of protein filaments (cytoskeleton) that gives structure to cells and allows them to change shape and move. Filamin A binds to another protein called actin, ... |
Melnick-Needles syndrome is a disorder involving abnormalities in skeletal development and other health problems. It is a member of a group of related conditions called otopalatodigital spectrum disorders, which also includes otopalatodigital syndrome type 1, otopalatodigital syndrome type 2, frontometaphyseal dysplasi... | Is Melnick-Needles syndrome inherited ? | This condition is inherited in an X-linked dominant pattern. The gene associated with this condition is located on the X chromosome, which is one of the two sex chromosomes. In females (who have two X chromosomes), a mutation in one of the two copies of the gene in each cell is sufficient to cause the disorder. In male... |
Melnick-Needles syndrome is a disorder involving abnormalities in skeletal development and other health problems. It is a member of a group of related conditions called otopalatodigital spectrum disorders, which also includes otopalatodigital syndrome type 1, otopalatodigital syndrome type 2, frontometaphyseal dysplasi... | What are the treatments for Melnick-Needles syndrome ? | These resources address the diagnosis or management of Melnick-Needles syndrome: - Gene Review: Gene Review: Otopalatodigital Spectrum Disorders - Genetic Testing Registry: Melnick-Needles syndrome These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: -... |
Lactose intolerance is an impaired ability to digest lactose, a sugar found in milk and other dairy products. Lactose is normally broken down by an enzyme called lactase, which is produced by cells in the lining of the small intestine. Congenital lactase deficiency, also called congenital alactasia, is a disorder in wh... | What is (are) lactose intolerance ? | Lactose intolerance is an impaired ability to digest lactose, a sugar found in milk and other dairy products. Lactose is normally broken down by an enzyme called lactase, which is produced by cells in the lining of the small intestine. Congenital lactase deficiency, also called congenital alactasia, is a disorder in w... |
Lactose intolerance is an impaired ability to digest lactose, a sugar found in milk and other dairy products. Lactose is normally broken down by an enzyme called lactase, which is produced by cells in the lining of the small intestine. Congenital lactase deficiency, also called congenital alactasia, is a disorder in wh... | How many people are affected by lactose intolerance ? | Lactose intolerance in infancy resulting from congenital lactase deficiency is a rare disorder. Its incidence is unknown. This condition is most common in Finland, where it affects an estimated 1 in 60,000 newborns. Approximately 65 percent of the human population has a reduced ability to digest lactose after infancy.... |
Lactose intolerance is an impaired ability to digest lactose, a sugar found in milk and other dairy products. Lactose is normally broken down by an enzyme called lactase, which is produced by cells in the lining of the small intestine. Congenital lactase deficiency, also called congenital alactasia, is a disorder in wh... | What are the genetic changes related to lactose intolerance ? | Lactose intolerance in infants (congenital lactase deficiency) is caused by mutations in the LCT gene. The LCT gene provides instructions for making the lactase enzyme. Mutations that cause congenital lactase deficiency are believed to interfere with the function of lactase, causing affected infants to have a severely ... |
Lactose intolerance is an impaired ability to digest lactose, a sugar found in milk and other dairy products. Lactose is normally broken down by an enzyme called lactase, which is produced by cells in the lining of the small intestine. Congenital lactase deficiency, also called congenital alactasia, is a disorder in wh... | Is lactose intolerance inherited ? | The type of lactose intolerance that occurs in infants (congenital lactase deficiency) is inherited in an autosomal recessive pattern, which means both copies of the LCT 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... |
Lactose intolerance is an impaired ability to digest lactose, a sugar found in milk and other dairy products. Lactose is normally broken down by an enzyme called lactase, which is produced by cells in the lining of the small intestine. Congenital lactase deficiency, also called congenital alactasia, is a disorder in wh... | What are the treatments for lactose intolerance ? | These resources address the diagnosis or management of lactose intolerance: - Genetic Testing Registry: Congenital lactase deficiency - Genetic Testing Registry: Nonpersistence of intestinal lactase - MedlinePlus Encyclopedia: Lactose Intolerance - MedlinePlus Encyclopedia: Lactose Tolerance Tests These resources... |
Geleophysic dysplasia is an inherited condition that affects many parts of the body. It is characterized by abnormalities involving the bones, joints, heart, and skin. People with geleophysic dysplasia have short stature with very short hands and feet. Most also develop thickened skin and joint deformities called cont... | What is (are) geleophysic dysplasia ? | Geleophysic dysplasia is an inherited condition that affects many parts of the body. It is characterized by abnormalities involving the bones, joints, heart, and skin. People with geleophysic dysplasia have short stature with very short hands and feet. Most also develop thickened skin and joint deformities called cont... |
Geleophysic dysplasia is an inherited condition that affects many parts of the body. It is characterized by abnormalities involving the bones, joints, heart, and skin. People with geleophysic dysplasia have short stature with very short hands and feet. Most also develop thickened skin and joint deformities called cont... | How many people are affected by geleophysic dysplasia ? | Geleophysic dysplasia is a rare disorder whose prevalence is unknown. More than 30 affected individuals have been reported. |
Geleophysic dysplasia is an inherited condition that affects many parts of the body. It is characterized by abnormalities involving the bones, joints, heart, and skin. People with geleophysic dysplasia have short stature with very short hands and feet. Most also develop thickened skin and joint deformities called cont... | 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... |
Geleophysic dysplasia is an inherited condition that affects many parts of the body. It is characterized by abnormalities involving the bones, joints, heart, and skin. People with geleophysic dysplasia have short stature with very short hands and feet. Most also develop thickened skin and joint deformities called cont... | 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. |
Geleophysic dysplasia is an inherited condition that affects many parts of the body. It is characterized by abnormalities involving the bones, joints, heart, and skin. People with geleophysic dysplasia have short stature with very short hands and feet. Most also develop thickened skin and joint deformities called cont... | 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... |
Hyperparathyroidism-jaw tumor syndrome is a condition characterized by overactivity of the parathyroid glands (hyperparathyroidism). The four parathyroid glands are located in the neck and secrete a hormone that regulates the body's use of calcium. Hyperparathyroidism disrupts the normal balance of calcium in the blood... | What is (are) hyperparathyroidism-jaw tumor syndrome ? | Hyperparathyroidism-jaw tumor syndrome is a condition characterized by overactivity of the parathyroid glands (hyperparathyroidism). The four parathyroid glands are located in the neck and secrete a hormone that regulates the body's use of calcium. Hyperparathyroidism disrupts the normal balance of calcium in the blood... |
Hyperparathyroidism-jaw tumor syndrome is a condition characterized by overactivity of the parathyroid glands (hyperparathyroidism). The four parathyroid glands are located in the neck and secrete a hormone that regulates the body's use of calcium. Hyperparathyroidism disrupts the normal balance of calcium in the blood... | How many people are affected by hyperparathyroidism-jaw tumor syndrome ? | The exact prevalence of hyperparathyroidism-jaw tumor syndrome is unknown. Approximately 200 cases have been reported in the medical literature. |
Hyperparathyroidism-jaw tumor syndrome is a condition characterized by overactivity of the parathyroid glands (hyperparathyroidism). The four parathyroid glands are located in the neck and secrete a hormone that regulates the body's use of calcium. Hyperparathyroidism disrupts the normal balance of calcium in the blood... | What are the genetic changes related to hyperparathyroidism-jaw tumor syndrome ? | Mutations in the CDC73 gene (also known as the HRPT2 gene) cause hyperparathyroidism-jaw tumor syndrome. The CDC73 gene provides instructions for making a protein called parafibromin. This protein is found throughout the body and is likely involved in gene transcription, which is the first step in protein production. P... |
Hyperparathyroidism-jaw tumor syndrome is a condition characterized by overactivity of the parathyroid glands (hyperparathyroidism). The four parathyroid glands are located in the neck and secrete a hormone that regulates the body's use of calcium. Hyperparathyroidism disrupts the normal balance of calcium in the blood... | Is hyperparathyroidism-jaw tumor 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. |
Hyperparathyroidism-jaw tumor syndrome is a condition characterized by overactivity of the parathyroid glands (hyperparathyroidism). The four parathyroid glands are located in the neck and secrete a hormone that regulates the body's use of calcium. Hyperparathyroidism disrupts the normal balance of calcium in the blood... | What are the treatments for hyperparathyroidism-jaw tumor syndrome ? | These resources address the diagnosis or management of hyperparathyroidism-jaw tumor syndrome: - Gene Review: Gene Review: CDC73-Related Disorders - Genetic Testing Registry: Hyperparathyroidism 2 - MedlinePlus Encyclopedia: Hyperparathyroidism These resources from MedlinePlus offer information about the diagnosis... |
Waardenburg syndrome is a group of genetic conditions that can cause hearing loss and changes in coloring (pigmentation) of the hair, skin, and eyes. Although most people with Waardenburg syndrome have normal hearing, moderate to profound hearing loss can occur in one or both ears. The hearing loss is present from birt... | What is (are) Waardenburg syndrome ? | Waardenburg syndrome is a group of genetic conditions that can cause hearing loss and changes in coloring (pigmentation) of the hair, skin, and eyes. Although most people with Waardenburg syndrome have normal hearing, moderate to profound hearing loss can occur in one or both ears. The hearing loss is present from birt... |
Waardenburg syndrome is a group of genetic conditions that can cause hearing loss and changes in coloring (pigmentation) of the hair, skin, and eyes. Although most people with Waardenburg syndrome have normal hearing, moderate to profound hearing loss can occur in one or both ears. The hearing loss is present from birt... | How many people are affected by Waardenburg syndrome ? | Waardenburg syndrome affects an estimated 1 in 40,000 people. It accounts for 2 to 5 percent of all cases of congenital hearing loss. Types I and II are the most common forms of Waardenburg syndrome, while types III and IV are rare. |
Waardenburg syndrome is a group of genetic conditions that can cause hearing loss and changes in coloring (pigmentation) of the hair, skin, and eyes. Although most people with Waardenburg syndrome have normal hearing, moderate to profound hearing loss can occur in one or both ears. The hearing loss is present from birt... | What are the genetic changes related to Waardenburg syndrome ? | Mutations in the EDN3, EDNRB, MITF, PAX3, SNAI2, and SOX10 genes can cause Waardenburg syndrome. These genes are involved in the formation and development of several types of cells, including pigment-producing cells called melanocytes. Melanocytes make a pigment called melanin, which contributes to skin, hair, and eye ... |
Waardenburg syndrome is a group of genetic conditions that can cause hearing loss and changes in coloring (pigmentation) of the hair, skin, and eyes. Although most people with Waardenburg syndrome have normal hearing, moderate to profound hearing loss can occur in one or both ears. The hearing loss is present from birt... | Is Waardenburg syndrome inherited ? | Waardenburg syndrome is usually inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In most cases, an affected person has one parent with the condition. A small percentage of cases result from new mutations in the gene; these cases occur... |
Waardenburg syndrome is a group of genetic conditions that can cause hearing loss and changes in coloring (pigmentation) of the hair, skin, and eyes. Although most people with Waardenburg syndrome have normal hearing, moderate to profound hearing loss can occur in one or both ears. The hearing loss is present from birt... | What are the treatments for Waardenburg syndrome ? | These resources address the diagnosis or management of Waardenburg syndrome: - Gene Review: Gene Review: Waardenburg Syndrome Type I - Genetic Testing Registry: Klein-Waardenberg's syndrome - Genetic Testing Registry: Waardenburg syndrome type 1 - Genetic Testing Registry: Waardenburg syndrome type 2A - Genetic Te... |
Hajdu-Cheney syndrome is a rare disorder that can affect many parts of the body, particularly the bones. Loss of bone tissue from the hands and feet (acro-osteolysis) is a characteristic feature of the condition. The fingers and toes are short and broad, and they may become shorter over time as bone at the tips continu... | What is (are) Hajdu-Cheney syndrome ? | Hajdu-Cheney syndrome is a rare disorder that can affect many parts of the body, particularly the bones. Loss of bone tissue from the hands and feet (acro-osteolysis) is a characteristic feature of the condition. The fingers and toes are short and broad, and they may become shorter over time as bone at the tips continu... |
Hajdu-Cheney syndrome is a rare disorder that can affect many parts of the body, particularly the bones. Loss of bone tissue from the hands and feet (acro-osteolysis) is a characteristic feature of the condition. The fingers and toes are short and broad, and they may become shorter over time as bone at the tips continu... | How many people are affected by Hajdu-Cheney syndrome ? | Hajdu-Cheney syndrome is a rare disease; its prevalence is unknown. Fewer than 100 affected individuals have been described in the medical literature. |
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