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What is (are) Laron syndrome ? | Laron syndrome is a rare form of short stature that results from the body's inability to use growth hormone, a substance produced by the brain's pituitary gland that helps promote growth. Affected individuals are close to normal size at birth, but they experience slow growth from early childhood that results in very sh... | Laron syndrome |
How many people are affected by Laron syndrome ? | Laron syndrome is a rare disorder. About 350 people have been diagnosed with the condition worldwide. The largest single group of affected individuals (about 100 people) lives in an area of southern Ecuador. | Laron syndrome |
What are the genetic changes related to Laron syndrome ? | Laron syndrome is caused by mutations in the GHR gene. This gene provides instructions for making a protein called the growth hormone receptor. The receptor is present on the outer membrane of cells throughout the body, particularly liver cells. As its name suggests, the growth hormone receptor attaches (binds) to grow... | Laron syndrome |
Is Laron syndrome inherited ? | Most cases of Laron syndrome are inherited in an autosomal recessive pattern, which means both copies of the GHR 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 conditio... | Laron syndrome |
What are the treatments for Laron syndrome ? | These resources address the diagnosis or management of Laron syndrome: - Children's Hospital of Pittsburgh: Growth Hormone Treatment - Cinncinati Children's Hospital Medical Center: Growth Hormone Therapy - Genetic Testing Registry: Laron-type isolated somatotropin defect These resources from MedlinePlus offer inf... | Laron syndrome |
What is (are) campomelic dysplasia ? | Campomelic dysplasia is a severe disorder that affects development of the skeleton, reproductive system, and other parts of the body. This condition is often life-threatening in the newborn period. The term "campomelic" comes from the Greek words for "bent limb." Affected individuals are typically born with bowing of ... | campomelic dysplasia |
How many people are affected by campomelic dysplasia ? | The prevalence of campomelic dysplasia is uncertain; estimates range from 1 in 40,000 to 200,000 people. | campomelic dysplasia |
What are the genetic changes related to campomelic dysplasia ? | Mutations in or near the SOX9 gene cause campomelic dysplasia. This gene provides instructions for making a protein that plays a critical role in the formation of many different tissues and organs during embryonic development. The SOX9 protein regulates the activity of other genes, especially those that are important f... | campomelic dysplasia |
Is campomelic dysplasia inherited ? | Campomelic dysplasia is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. Most cases result from new mutations in or near the SOX9 gene and occur in people with no history of the disorder in their family. Rarely, affected individuals i... | campomelic dysplasia |
What are the treatments for campomelic dysplasia ? | These resources address the diagnosis or management of campomelic dysplasia: - European Skeletal Dysplasia Network - Gene Review: Gene Review: Campomelic Dysplasia - Genetic Testing Registry: Camptomelic dysplasia - MedlinePlus Encyclopedia: Ambiguous Genitalia - MedlinePlus Encyclopedia: Pierre-Robin Syndrome - ... | campomelic dysplasia |
What is (are) amyotrophic lateral sclerosis ? | Amyotrophic lateral sclerosis (ALS) is a progressive disease that affects motor neurons, which are specialized nerve cells that control muscle movement. These nerve cells are found in the spinal cord and the brain. In ALS, motor neurons die (atrophy) over time, leading to muscle weakness, a loss of muscle mass, and an ... | amyotrophic lateral sclerosis |
How many people are affected by amyotrophic lateral sclerosis ? | About 5,000 people in the United States are diagnosed with ALS each year. Worldwide, this disorder occurs in 2 to 5 per 100,000 individuals. Only a small percentage of cases have a known genetic cause. Among the Chamorro people of Guam and people from the Kii Peninsula of Japan, ALS-PDC can be 100 times more frequent ... | amyotrophic lateral sclerosis |
What are the genetic changes related to amyotrophic lateral sclerosis ? | Mutations in several genes can cause familial ALS and contribute to the development of sporadic ALS. Mutations in the C9orf72 gene account for 30 to 40 percent of familial ALS in the United States and Europe. Worldwide, SOD1 gene mutations cause 15 to 20 percent of familial ALS, and TARDBP and FUS gene mutations each a... | amyotrophic lateral sclerosis |
Is amyotrophic lateral sclerosis inherited ? | About 90 to 95 percent of ALS cases are sporadic, which means they are not inherited. An estimated 5 to 10 percent of ALS is familial and caused by mutations in one of several genes. The pattern of inheritance varies depending on the gene involved. Most cases are inherited in an autosomal dominant pattern, which means... | amyotrophic lateral sclerosis |
What are the treatments for amyotrophic lateral sclerosis ? | These resources address the diagnosis or management of amyotrophic lateral sclerosis: - Gene Review: Gene Review: ALS2-Related Disorders - Gene Review: Gene Review: Amyotrophic Lateral Sclerosis Overview - Gene Review: Gene Review: C9orf72-Related Amyotrophic Lateral Sclerosis and Frontotemporal Dementia - Gene Rev... | amyotrophic lateral sclerosis |
What is (are) Wiskott-Aldrich syndrome ? | Wiskott-Aldrich syndrome is characterized by abnormal immune system function (immune deficiency) and a reduced ability to form blood clots. This condition primarily affects males. Individuals with Wiskott-Aldrich syndrome have microthrombocytopenia, which is a decrease in the number and size of blood cells involved in... | Wiskott-Aldrich syndrome |
How many people are affected by Wiskott-Aldrich syndrome ? | The estimated incidence of Wiskott-Aldrich syndrome is between 1 and 10 cases per million males worldwide; this condition is rarer in females. | Wiskott-Aldrich syndrome |
What are the genetic changes related to Wiskott-Aldrich syndrome ? | Mutations in the WAS gene cause Wiskott-Aldrich syndrome. The WAS gene provides instructions for making a protein called WASP. This protein is found in all blood cells. WASP is involved in relaying signals from the surface of blood cells to the actin cytoskeleton, which is a network of fibers that make up the cell's st... | Wiskott-Aldrich syndrome |
Is Wiskott-Aldrich syndrome inherited ? | This condition is inherited in an X-linked 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 may or may not cause the disorder. In males (who have... | Wiskott-Aldrich syndrome |
What are the treatments for Wiskott-Aldrich syndrome ? | These resources address the diagnosis or management of Wiskott-Aldrich syndrome: - Gene Review: Gene Review: WAS-Related Disorders - Genetic Testing Registry: Wiskott-Aldrich syndrome - MedlinePlus Encyclopedia: Thrombocytopenia - National Marrow Donor Program - Rare Disease Clinical Research Network: Primary Immu... | Wiskott-Aldrich syndrome |
What is (are) Vohwinkel syndrome ? | Vohwinkel syndrome is a disorder with classic and variant forms, both of which affect the skin. In the classic form of Vohwinkel syndrome, affected individuals have thick, honeycomb-like calluses on the palms of the hands and soles of the feet (palmoplantar keratoses) beginning in infancy or early childhood. Affected ... | Vohwinkel syndrome |
How many people are affected by Vohwinkel syndrome ? | Vohwinkel syndrome is a rare disorder; about 50 cases have been reported in the medical literature. | Vohwinkel syndrome |
What are the genetic changes related to Vohwinkel syndrome ? | The classic form of Vohwinkel syndrome is caused by mutations in the GJB2 gene. This gene provides instructions for making a protein called gap junction beta 2, more commonly known as connexin 26. Connexin 26 is a member of the connexin protein family. Connexin proteins form channels called gap junctions that permit th... | Vohwinkel syndrome |
Is Vohwinkel 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. In most cases, an affected person inherits the mutation from one affected parent. Other cases result from new mutations in the gene and occur in people with no histor... | Vohwinkel syndrome |
What are the treatments for Vohwinkel syndrome ? | These resources address the diagnosis or management of Vohwinkel syndrome: - Genetic Testing Registry: Mutilating keratoderma - Genetic Testing Registry: Vohwinkel syndrome, variant form These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic... | Vohwinkel syndrome |
What is (are) adiposis dolorosa ? | Adiposis dolorosa is a condition characterized by painful folds of fatty (adipose) tissue or the growth of multiple noncancerous (benign) fatty tumors called lipomas. This condition occurs most often in women who are overweight or obese, and signs and symptoms typically appear between ages 35 and 50. In people with ad... | adiposis dolorosa |
How many people are affected by adiposis dolorosa ? | Adiposis dolorosa is a rare condition whose prevalence is unknown. For reasons that are unclear, it occurs up to 30 times more often in women than in men. | adiposis dolorosa |
What are the genetic changes related to adiposis dolorosa ? | The cause of adiposis dolorosa is unknown. The condition is thought to have a genetic component because a few families with multiple affected family members have been reported. However, no associated genes have been identified. Several other possible causes of adiposis dolorosa have been suggested, although none have ... | adiposis dolorosa |
Is adiposis dolorosa inherited ? | Most cases of adiposis dolorosa are sporadic, which means they occur in people with no history of the disorder in their family. A small number of familial cases of adiposis dolorosa have been reported. When the condition runs in families, it appears to have an autosomal dominant pattern of inheritance because affected... | adiposis dolorosa |
What are the treatments for adiposis dolorosa ? | These resources address the diagnosis or management of adiposis dolorosa: - Genetic Testing Registry: Lipomatosis dolorosa - Merck Manual Consumer Version: Lipomas These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy ... | adiposis dolorosa |
What is (are) lattice corneal dystrophy type II ? | Lattice corneal dystrophy type II is characterized by an accumulation of protein clumps called amyloid deposits in tissues throughout the body. The deposits frequently occur in blood vessel walls and basement membranes, which are thin, sheet-like structures that separate and support cells in many tissues. Amyloid depos... | lattice corneal dystrophy type II |
How many people are affected by lattice corneal dystrophy type II ? | Lattice corneal dystrophy type II is a rare condition; however, the prevalence is unknown. While this condition can be found in populations worldwide, it was first described in Finland and is more common there. | lattice corneal dystrophy type II |
What are the genetic changes related to lattice corneal dystrophy type II ? | Lattice corneal dystrophy type II is caused by mutations in the GSN gene. This gene provides instructions for making a protein called gelsolin. This protein is found throughout the body and helps regulate the formation of the network of protein filaments that gives structure to cells (the cytoskeleton). Mutations that ... | lattice corneal dystrophy type II |
Is lattice corneal dystrophy type II 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. Although a mutation in one copy of the gene can cause the disorder, people with mutations in both copies of the gene have more severe signs and symptoms. | lattice corneal dystrophy type II |
What are the treatments for lattice corneal dystrophy type II ? | These resources address the diagnosis or management of lattice corneal dystrophy type II: - American Foundation for the Blind: Living with Vision Loss - Genetic Testing Registry: Meretoja syndrome - Merck Manual Home Health Edition: Diagnosis of Eye Disorders: Slit-Lamp Examination These resources from MedlinePlus... | lattice corneal dystrophy type II |
What is (are) pyridoxine-dependent epilepsy ? | Pyridoxine-dependent epilepsy is a condition that involves seizures beginning in infancy or, in some cases, before birth. Those affected typically experience prolonged seizures lasting several minutes (status epilepticus). These seizures involve muscle rigidity, convulsions, and loss of consciousness (tonic-clonic seiz... | pyridoxine-dependent epilepsy |
How many people are affected by pyridoxine-dependent epilepsy ? | Pyridoxine-dependent epilepsy occurs in 1 in 100,000 to 700,000 individuals. At least 100 cases have been reported worldwide. | pyridoxine-dependent epilepsy |
What are the genetic changes related to pyridoxine-dependent epilepsy ? | Mutations in the ALDH7A1 gene cause pyridoxine-dependent epilepsy. The ALDH7A1 gene provides instructions for making an enzyme called -aminoadipic semialdehyde (-AASA) dehydrogenase, also known as antiquitin. This enzyme is involved in the breakdown of the protein building block (amino acid) lysine in the brain. When ... | pyridoxine-dependent epilepsy |
Is pyridoxine-dependent epilepsy 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. | pyridoxine-dependent epilepsy |
What are the treatments for pyridoxine-dependent epilepsy ? | These resources address the diagnosis or management of pyridoxine-dependent epilepsy: - Gene Review: Gene Review: Pyridoxine-Dependent Epilepsy - Genetic Testing Registry: Pyridoxine-dependent epilepsy - MedlinePlus Encyclopedia: Generalized tonic-clonic seizure These resources from MedlinePlus offer information a... | pyridoxine-dependent epilepsy |
What is (are) familial hemiplegic migraine ? | Familial hemiplegic migraine is a form of migraine headache that runs in families. Migraines usually cause intense, throbbing pain in one area of the head, often accompanied by nausea, vomiting, and extreme sensitivity to light and sound. These recurrent headaches typically begin in childhood or adolescence and can be ... | familial hemiplegic migraine |
How many people are affected by familial hemiplegic migraine ? | The worldwide prevalence of familial hemiplegic migraine is unknown. Studies suggest that in Denmark about 1 in 10,000 people have hemiplegic migraine and that the condition occurs equally in families with multiple affected individuals (familial hemiplegic migraine) and in individuals with no family history of the cond... | familial hemiplegic migraine |
What are the genetic changes related to familial hemiplegic migraine ? | Mutations in the CACNA1A, ATP1A2, SCN1A, and PRRT2 genes have been found to cause familial hemiplegic migraine. The first three genes provide instructions for making proteins that are involved in the transport of charged atoms (ions) across cell membranes. The movement of these ions is critical for normal signaling bet... | familial hemiplegic migraine |
Is familial hemiplegic migraine 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, affected individuals have one affected parent. However, some people who inherit an altered gene never develop features of familial hemiplegic migraine. ... | familial hemiplegic migraine |
What are the treatments for familial hemiplegic migraine ? | These resources address the diagnosis or management of familial hemiplegic migraine: - Gene Review: Gene Review: Familial Hemiplegic Migraine - Genetic Testing Registry: Familial hemiplegic migraine - Genetic Testing Registry: Familial hemiplegic migraine type 1 - Genetic Testing Registry: Familial hemiplegic migra... | familial hemiplegic migraine |
What is (are) Imerslund-Grsbeck syndrome ? | Imerslund-Grsbeck syndrome is a condition caused by low levels of vitamin B12 (also known as cobalamin). The primary feature of this condition is a blood disorder called megaloblastic anemia. In this form of anemia, which is a disorder characterized by the shortage of red blood cells, the red cells that are present are... | Imerslund-Grsbeck syndrome |
How many people are affected by Imerslund-Grsbeck syndrome ? | Imerslund-Grsbeck syndrome is a rare condition that was first described in Finland and Norway; in these regions, the condition is estimated to affect 1 in 200,000 people. The condition has also been reported in other countries worldwide; its prevalence in these countries is unknown. | Imerslund-Grsbeck syndrome |
What are the genetic changes related to Imerslund-Grsbeck syndrome ? | Mutations in the AMN or CUBN gene can cause Imerslund-Grsbeck syndrome. The AMN gene provides instructions for making a protein called amnionless, and the CUBN gene provides instructions for making a protein called cubilin. Together, these proteins play a role in the uptake of vitamin B12 from food. Vitamin B12, which ... | Imerslund-Grsbeck syndrome |
Is Imerslund-Grsbeck 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. | Imerslund-Grsbeck syndrome |
What are the treatments for Imerslund-Grsbeck syndrome ? | These resources address the diagnosis or management of Imerslund-Grsbeck syndrome: - MedlinePlus Encyclopedia: Anemia - B12 deficiency These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation ... | Imerslund-Grsbeck syndrome |
What is (are) glutaric acidemia type I ? | Glutaric acidemia type I is an inherited disorder in which the body is unable to process certain proteins properly. People with this disorder have inadequate levels of an enzyme that helps break down the amino acids lysine, hydroxylysine, and tryptophan, which are building blocks of protein. Excessive levels of these a... | glutaric acidemia type I |
How many people are affected by glutaric acidemia type I ? | Glutaric acidemia type I occurs in approximately 1 of every 30,000 to 40,000 individuals. It is much more common in the Amish community and in the Ojibwa population of Canada, where up to 1 in 300 newborns may be affected. | glutaric acidemia type I |
What are the genetic changes related to glutaric acidemia type I ? | Mutations in the GCDH gene cause glutaric acidemia type I. The GCDH gene provides instructions for making the enzyme glutaryl-CoA dehydrogenase. This enzyme is involved in processing the amino acids lysine, hydroxylysine, and tryptophan. Mutations in the GCDH gene prevent production of the enzyme or result in the pro... | glutaric acidemia type I |
Is glutaric acidemia type I 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. | glutaric acidemia type I |
What are the treatments for glutaric acidemia type I ? | These resources address the diagnosis or management of glutaric acidemia type I: - Baby's First Test - Genetic Testing Registry: Glutaric aciduria, type 1 These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surger... | glutaric acidemia type I |
What is (are) X-linked juvenile retinoschisis ? | X-linked juvenile retinoschisis is a condition characterized by impaired vision that begins in childhood and occurs almost exclusively in males. This disorder affects the retina, which is a specialized light-sensitive tissue that lines the back of the eye. Damage to the retina impairs the sharpness of vision (visual ac... | X-linked juvenile retinoschisis |
How many people are affected by X-linked juvenile retinoschisis ? | The prevalence of X-linked juvenile retinoschisis is estimated to be 1 in 5,000 to 25,000 men worldwide. | X-linked juvenile retinoschisis |
What are the genetic changes related to X-linked juvenile retinoschisis ? | Mutations in the RS1 gene cause most cases of X-linked juvenile retinoschisis. The RS1 gene provides instructions for making a protein called retinoschisin, which is found in the retina. Studies suggest that retinoschisin plays a role in the development and maintenance of the retina. The protein is probably involved in... | X-linked juvenile retinoschisis |
Is X-linked juvenile retinoschisis inherited ? | This condition is inherited in an X-linked recessive pattern. The gene associated with this condition is located on the X chromosome, which is one of the two sex chromosomes. In males (who have only one X chromosome), one altered copy of the gene in each cell is sufficient to cause the condition. In females (who have t... | X-linked juvenile retinoschisis |
What are the treatments for X-linked juvenile retinoschisis ? | These resources address the diagnosis or management of X-linked juvenile retinoschisis: - Gene Review: Gene Review: X-Linked Juvenile Retinoschisis - Genetic Testing Registry: Juvenile retinoschisis These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: ... | X-linked juvenile retinoschisis |
What is (are) spondyloepiphyseal dysplasia congenita ? | Spondyloepiphyseal dysplasia congenita is an inherited bone growth disorder that results in short stature (dwarfism), skeletal abnormalities, and problems with vision and hearing. This condition affects the bones of the spine (spondylo-) and the ends (epiphyses) of long bones in the arms and legs. Congenita indicates t... | spondyloepiphyseal dysplasia congenita |
How many people are affected by spondyloepiphyseal dysplasia congenita ? | This condition is rare; the exact incidence is unknown. More than 175 cases have been reported in the scientific literature. | spondyloepiphyseal dysplasia congenita |
What are the genetic changes related to spondyloepiphyseal dysplasia congenita ? | Spondyloepiphyseal dysplasia congenita is one of a spectrum of skeletal disorders caused by mutations in the COL2A1 gene. This gene provides instructions for making a protein that forms type II collagen. This type of collagen is found mostly in cartilage and in the clear gel that fills the eyeball (the vitreous). The C... | spondyloepiphyseal dysplasia congenita |
Is spondyloepiphyseal dysplasia congenita 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. | spondyloepiphyseal dysplasia congenita |
What are the treatments for spondyloepiphyseal dysplasia congenita ? | These resources address the diagnosis or management of spondyloepiphyseal dysplasia congenita: - Genetic Testing Registry: Spondyloepiphyseal dysplasia congenita - MedlinePlus Encyclopedia: Clubfoot - MedlinePlus Encyclopedia: Lordosis - MedlinePlus Encyclopedia: Retinal Detachment - MedlinePlus Encyclopedia: Scol... | spondyloepiphyseal dysplasia congenita |
What is (are) Donnai-Barrow syndrome ? | Donnai-Barrow syndrome is an inherited disorder that affects many parts of the body. This disorder is characterized by unusual facial features, including prominent, wide-set eyes with outer corners that point downward; a short bulbous nose with a flat nasal bridge; ears that are rotated backward; and a widow's peak hai... | Donnai-Barrow syndrome |
How many people are affected by Donnai-Barrow syndrome ? | Although its prevalence is unknown, Donnai-Barrow syndrome appears to be a rare disorder. A few dozen affected individuals have been reported in many regions of the world. | Donnai-Barrow syndrome |
What are the genetic changes related to Donnai-Barrow syndrome ? | Mutations in the LRP2 gene cause Donnai-Barrow syndrome. The LRP2 gene provides instructions for making a protein called megalin, which functions as a receptor. Receptor proteins have specific sites into which certain other proteins, called ligands, fit like keys into locks. Together, ligands and their receptors trigge... | Donnai-Barrow syndrome |
Is Donnai-Barrow syndrome inherited ? | This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. In almost all cases, the parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene but typically do not show signs and symptoms of the condition. ... | Donnai-Barrow syndrome |
What are the treatments for Donnai-Barrow syndrome ? | These resources address the diagnosis or management of Donnai-Barrow syndrome: - Gene Review: Gene Review: Donnai-Barrow Syndrome - Genetic Testing Registry: Donnai Barrow syndrome - MedlinePlus Encyclopedia: Diaphragmatic Hernia - MedlinePlus Encyclopedia: Hearing Loss - Infants - MedlinePlus Encyclopedia: Omphal... | Donnai-Barrow syndrome |
What is (are) popliteal pterygium syndrome ? | Popliteal pterygium syndrome is a condition that affects the development of the face, skin, and genitals. Most people with this disorder are born with a cleft lip, a cleft palate (an opening in the roof of the mouth), or both. Affected individuals may have depressions (pits) near the center of the lower lip, which may ... | popliteal pterygium syndrome |
How many people are affected by popliteal pterygium syndrome ? | Popliteal pterygium syndrome is a rare condition, occurring in approximately 1 in 300,000 individuals. | popliteal pterygium syndrome |
What are the genetic changes related to popliteal pterygium syndrome ? | Mutations in the IRF6 gene cause popliteal pterygium syndrome. The IRF6 gene provides instructions for making a protein that plays an important role in early development. This protein is a transcription factor, which means that it attaches (binds) to specific regions of DNA and helps control the activity of particular ... | popliteal pterygium syndrome |
Is popliteal pterygium 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. | popliteal pterygium syndrome |
What are the treatments for popliteal pterygium syndrome ? | These resources address the diagnosis or management of popliteal pterygium syndrome: - Gene Review: Gene Review: IRF6-Related Disorders - Genetic Testing Registry: Popliteal pterygium syndrome These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diag... | popliteal pterygium syndrome |
What is (are) pyruvate kinase deficiency ? | Pyruvate kinase deficiency is an inherited disorder that affects red blood cells, which carry oxygen to the body's tissues. People with this disorder have a condition known as chronic hemolytic anemia, in which red blood cells are broken down (undergo hemolysis) prematurely, resulting in a shortage of red blood cells (... | pyruvate kinase deficiency |
How many people are affected by pyruvate kinase deficiency ? | Pyruvate kinase deficiency is the most common inherited cause of nonspherocytic hemolytic anemia. More than 500 affected families have been identified, and studies suggest that the disorder may be underdiagnosed because mild cases may not be identified. Pyruvate kinase deficiency is found in all ethnic groups. Its pre... | pyruvate kinase deficiency |
What are the genetic changes related to pyruvate kinase deficiency ? | Pyruvate kinase deficiency is caused by mutations in the PKLR gene. The PKLR gene is active in the liver and in red blood cells, where it provides instructions for making an enzyme called pyruvate kinase. The pyruvate kinase enzyme is involved in a critical energy-producing process known as glycolysis. During glycolysi... | pyruvate kinase deficiency |
Is pyruvate kinase 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. | pyruvate kinase deficiency |
What are the treatments for pyruvate kinase deficiency ? | These resources address the diagnosis or management of pyruvate kinase deficiency: - Cincinnati Children's Hospital Medical Center: Hemolytic Anemia - Genetic Testing Registry: Pyruvate kinase deficiency of red cells - Johns Hopkins Medicine: Hemolytic Anemia These resources from MedlinePlus offer information abou... | pyruvate kinase deficiency |
What is (are) alpha-1 antitrypsin deficiency ? | Alpha-1 antitrypsin deficiency is an inherited disorder that may cause lung disease and liver disease. The signs and symptoms of the condition and the age at which they appear vary among individuals. People with alpha-1 antitrypsin deficiency usually develop the first signs and symptoms of lung disease between ages 20... | alpha-1 antitrypsin deficiency |
How many people are affected by alpha-1 antitrypsin deficiency ? | Alpha-1 antitrypsin deficiency occurs worldwide, but its prevalence varies by population. This disorder affects about 1 in 1,500 to 3,500 individuals with European ancestry. It is uncommon in people of Asian descent. Many individuals with alpha-1 antitrypsin deficiency are likely undiagnosed, particularly people with a... | alpha-1 antitrypsin deficiency |
What are the genetic changes related to alpha-1 antitrypsin deficiency ? | Mutations in the SERPINA1 gene cause alpha-1 antitrypsin deficiency. This gene provides instructions for making a protein called alpha-1 antitrypsin, which protects the body from a powerful enzyme called neutrophil elastase. Neutrophil elastase is released from white blood cells to fight infection, but it can attack no... | alpha-1 antitrypsin deficiency |
Is alpha-1 antitrypsin deficiency inherited ? | This condition is inherited in an autosomal codominant pattern. Codominance means that two different versions of the gene may be active (expressed), and both versions contribute to the genetic trait. The most common version (allele) of the SERPINA1 gene, called M, produces normal levels of alpha-1 antitrypsin. Most pe... | alpha-1 antitrypsin deficiency |
What are the treatments for alpha-1 antitrypsin deficiency ? | These resources address the diagnosis or management of alpha-1 antitrypsin deficiency: - Alpha-1 Foundation: Testing for Alpha-1 - Cleveland Clinic Respiratory Institute - Gene Review: Gene Review: Alpha-1 Antitrypsin Deficiency - GeneFacts: Alpha-1 Antitrypsin Deficiency: Diagnosis - GeneFacts: Alpha-1 Antitrypsi... | alpha-1 antitrypsin deficiency |
What is (are) trichothiodystrophy ? | Trichothiodystrophy, which is commonly called TTD, is a rare inherited condition that affects many parts of the body. The hallmark of this condition is brittle hair that is sparse and easily broken. Tests show that the hair is lacking sulfur, an element that normally gives hair its strength. The signs and symptoms of ... | trichothiodystrophy |
How many people are affected by trichothiodystrophy ? | Trichothiodystrophy has an estimated incidence of about 1 in 1 million newborns in the United States and Europe. About 100 affected individuals have been reported worldwide. | trichothiodystrophy |
What are the genetic changes related to trichothiodystrophy ? | Most cases of the photosensitive form of trichothiodystrophy result from mutations in one of three genes: ERCC2, ERCC3, or GTF2H5. The proteins produced from these genes work together as part of a group of proteins called the general transcription factor IIH (TFIIH) complex. This complex is involved in the repair of DN... | trichothiodystrophy |
Is trichothiodystrophy 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. | trichothiodystrophy |
What are the treatments for trichothiodystrophy ? | These resources address the diagnosis or management of trichothiodystrophy: - Genetic Testing Registry: BIDS brittle hair-impaired intellect-decreased fertility-short stature syndrome - Genetic Testing Registry: Photosensitive trichothiodystrophy - Genetic Testing Registry: Trichothiodystrophy, nonphotosensitive 1 ... | trichothiodystrophy |
What is (are) juvenile myoclonic epilepsy ? | Juvenile myoclonic epilepsy is a condition characterized by recurrent seizures (epilepsy). This condition begins in childhood or adolescence, usually between ages 12 and 18, and lasts into adulthood. The most common type of seizure in people with this condition is myoclonic seizures, which cause rapid, uncontrolled mus... | juvenile myoclonic epilepsy |
How many people are affected by juvenile myoclonic epilepsy ? | Juvenile myoclonic epilepsy affects an estimated 1 in 1,000 people worldwide. Approximately 5 percent of people with epilepsy have juvenile myoclonic epilepsy. | juvenile myoclonic epilepsy |
What are the genetic changes related to juvenile myoclonic epilepsy ? | The genetics of juvenile myoclonic epilepsy are complex and not completely understood. Mutations in one of several genes can cause or increase susceptibility to this condition. The most studied of these genes are the GABRA1 gene and the EFHC1 gene, although mutations in at least three other genes have been identified i... | juvenile myoclonic epilepsy |
Is juvenile myoclonic epilepsy inherited ? | The inheritance pattern of juvenile myoclonic epilepsy is not completely understood. When the condition is caused by mutations in the GABRA1 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. The inheritance pattern of juven... | juvenile myoclonic epilepsy |
What are the treatments for juvenile myoclonic epilepsy ? | These resources address the diagnosis or management of juvenile myoclonic epilepsy: - Genetic Testing Registry: Epilepsy with grand mal seizures on awakening - Genetic Testing Registry: Epilepsy, idiopathic generalized 10 - Genetic Testing Registry: Epilepsy, idiopathic generalized 9 - Genetic Testing Registry: Epi... | juvenile myoclonic epilepsy |
What is (are) corticosteroid-binding globulin deficiency ? | Corticosteroid-binding globulin deficiency is a condition with subtle signs and symptoms, the most frequent being extreme tiredness (fatigue), especially after physical exertion. Many people with this condition have unusually low blood pressure (hypotension). Some affected individuals have a fatty liver or experience c... | corticosteroid-binding globulin deficiency |
How many people are affected by corticosteroid-binding globulin deficiency ? | The prevalence of corticosteroid-binding globulin deficiency is unknown, but it is thought to be a rare disorder. However, because some people with the disorder have mild or no symptoms, it is likely that corticosteroid-binding globulin deficiency is underdiagnosed. | corticosteroid-binding globulin deficiency |
What are the genetic changes related to corticosteroid-binding globulin deficiency ? | Mutations in the SERPINA6 gene cause corticosteroid-binding globulin deficiency. The SERPINA6 gene provides instructions for making a protein called corticosteroid-binding globulin (CBG), which is primarily produced in the liver. The CBG protein attaches (binds) to a hormone called cortisol. This hormone has numerous f... | corticosteroid-binding globulin deficiency |
Is corticosteroid-binding globulin deficiency inherited ? | This condition is reported to have an autosomal recessive pattern of inheritance, 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 conditio... | corticosteroid-binding globulin deficiency |
What are the treatments for corticosteroid-binding globulin deficiency ? | These resources address the diagnosis or management of corticosteroid-binding globulin deficiency: - American Heart Association: Understanding Blood Pressure Readings - Genetic Testing Registry: Corticosteroid-binding globulin deficiency These resources from MedlinePlus offer information about the diagnosis and man... | corticosteroid-binding globulin deficiency |
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