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What is (are) hypomagnesemia with secondary hypocalcemia ? | Hypomagnesemia with secondary hypocalcemia is an inherited condition caused by the body's inability to absorb and retain magnesium that is taken in through the diet. As a result, magnesium levels in the blood are severely low (hypomagnesemia). Hypomagnesemia impairs the function of the parathyroid glands, which are sm... | hypomagnesemia with secondary hypocalcemia |
How many people are affected by hypomagnesemia with secondary hypocalcemia ? | Hypomagnesemia with secondary hypocalcemia is thought to be a rare condition, but its prevalence is unknown. | hypomagnesemia with secondary hypocalcemia |
What are the genetic changes related to hypomagnesemia with secondary hypocalcemia ? | Hypomagnesemia with secondary hypocalcemia is caused by mutations in the TRPM6 gene. This gene provides instructions for making a protein that acts as a channel, which allows charged atoms (ions) of magnesium (Mg2+) to flow into cells; the channel may also allow small amounts of calcium ions (Ca2+) to pass into cells. ... | hypomagnesemia with secondary hypocalcemia |
Is hypomagnesemia with secondary hypocalcemia 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. | hypomagnesemia with secondary hypocalcemia |
What are the treatments for hypomagnesemia with secondary hypocalcemia ? | These resources address the diagnosis or management of hypomagnesemia with secondary hypocalcemia: - Genetic Testing Registry: Hypomagnesemia 1, intestinal - MedlinePlus Encyclopedia: Hypomagnesemia These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: ... | hypomagnesemia with secondary hypocalcemia |
What is (are) X-linked adrenoleukodystrophy ? | X-linked adrenoleukodystrophy is a genetic disorder that occurs primarily in males. It mainly affects the nervous system and the adrenal glands, which are small glands located on top of each kidney. In this disorder, the fatty covering (myelin) that insulates nerves in the brain and spinal cord is prone to deterioratio... | X-linked adrenoleukodystrophy |
How many people are affected by X-linked adrenoleukodystrophy ? | The prevalence of X-linked adrenoleukodystrophy is 1 in 20,000 to 50,000 individuals worldwide. This condition occurs with a similar frequency in all populations. | X-linked adrenoleukodystrophy |
What are the genetic changes related to X-linked adrenoleukodystrophy ? | Mutations in the ABCD1 gene cause X-linked adrenoleukodystrophy. The ABCD1 gene provides instructions for producing the adrenoleukodystrophy protein (ALDP), which is involved in transporting certain fat molecules called very long-chain fatty acids (VLCFAs) into peroxisomes. Peroxisomes are small sacs within cells that ... | X-linked adrenoleukodystrophy |
Is X-linked adrenoleukodystrophy inherited ? | X-linked adrenoleukodystrophy is inherited in an X-linked pattern. A condition is considered X-linked if the mutated gene that causes the disorder is located on the X chromosome, one of the two sex chromosomes in each cell. In males (who have only one X chromosome), one altered copy of the ABCD1 gene in each cell is su... | X-linked adrenoleukodystrophy |
What are the treatments for X-linked adrenoleukodystrophy ? | These resources address the diagnosis or management of X-linked adrenoleukodystrophy: - Gene Review: Gene Review: X-Linked Adrenoleukodystrophy - Genetic Testing Registry: Adrenoleukodystrophy - Genomics Education Programme (UK) - MedlinePlus Encyclopedia: Adrenoleukodystrophy - National Marrow Donor Program - X-... | X-linked adrenoleukodystrophy |
What is (are) glycogen storage disease type 0 ? | Glycogen storage disease type 0 (also known as GSD 0) is a condition caused by the body's inability to form a complex sugar called glycogen, which is a major source of stored energy in the body. GSD 0 has two types: in muscle GSD 0, glycogen formation in the muscles is impaired, and in liver GSD 0, glycogen formation i... | glycogen storage disease type 0 |
How many people are affected by glycogen storage disease type 0 ? | The prevalence of GSD 0 is unknown; fewer than 10 people with the muscle type and fewer than 30 people with the liver type have been described in the scientific literature. Because some people with muscle GSD 0 die from sudden cardiac arrest early in life before a diagnosis is made and many with liver GSD 0 have mild s... | glycogen storage disease type 0 |
What are the genetic changes related to glycogen storage disease type 0 ? | Mutations in the GYS1 gene cause muscle GSD 0, and mutations in the GYS2 gene cause liver GSD 0. These genes provide instructions for making different versions of an enzyme called glycogen synthase. Both versions of glycogen synthase have the same function, to form glycogen molecules by linking together molecules of th... | glycogen storage disease type 0 |
Is glycogen storage disease type 0 inherited ? | This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. | glycogen storage disease type 0 |
What are the treatments for glycogen storage disease type 0 ? | These resources address the diagnosis or management of glycogen storage disease type 0: - Genetic Testing Registry: Glycogen storage disease 0, muscle - Genetic Testing Registry: Hypoglycemia with deficiency of glycogen synthetase in the liver These resources from MedlinePlus offer information about the diagnosis a... | glycogen storage disease type 0 |
What is (are) mucopolysaccharidosis type II ? | Mucopolysaccharidosis type II (MPS II), also known as Hunter syndrome, is a condition that affects many different parts of the body and occurs almost exclusively in males. It is a progressively debilitating disorder; however, the rate of progression varies among affected individuals. At birth, individuals with MPS II ... | mucopolysaccharidosis type II |
How many people are affected by mucopolysaccharidosis type II ? | MPS II occurs in approximately 1 in 100,000 to 1 in 170,000 males. | mucopolysaccharidosis type II |
What are the genetic changes related to mucopolysaccharidosis type II ? | Mutations in the IDS gene cause MPS II. The IDS gene provides instructions for producing the I2S enzyme, which is involved in the breakdown of large sugar molecules called glycosaminoglycans (GAGs). GAGs were originally called mucopolysaccharides, which is where this condition gets its name. Mutations in the IDS gene r... | mucopolysaccharidosis type II |
Is mucopolysaccharidosis type II 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... | mucopolysaccharidosis type II |
What are the treatments for mucopolysaccharidosis type II ? | These resources address the diagnosis or management of mucopolysaccharidosis type II: - Baby's First Test - Gene Review: Gene Review: Mucopolysaccharidosis Type II - Genetic Testing Registry: Mucopolysaccharidosis, MPS-II - MedlinePlus Encyclopedia: Hunter syndrome - MedlinePlus Encyclopedia: Mucopolysaccharides ... | mucopolysaccharidosis type II |
What is (are) celiac disease ? | Celiac disease is a condition in which the immune system is abnormally sensitive to gluten, a protein found in wheat, rye, and barley. Celiac disease is an autoimmune disorder; autoimmune disorders occur when the immune system malfunctions and attacks the body's own tissues and organs. Without a strict, lifelong gluten... | celiac disease |
How many people are affected by celiac disease ? | Celiac disease is a common disorder. Its prevalence has been estimated at about 1 in 100 people worldwide. | celiac disease |
What are the genetic changes related to celiac disease ? | The risk of developing celiac disease is increased by certain variants of the HLA-DQA1 and HLA-DQB1 genes. These genes provide instructions for making proteins that play a critical role in the immune system. The HLA-DQA1 and HLA-DQB1 genes belong to a family of genes called the human leukocyte antigen (HLA) complex. Th... | celiac disease |
Is celiac disease inherited ? | Celiac disease tends to cluster in families. Parents, siblings, or children (first-degree relatives) of people with celiac disease have between a 4 and 15 percent chance of developing the disorder. However, the inheritance pattern is unknown. | celiac disease |
What are the treatments for celiac disease ? | These resources address the diagnosis or management of celiac disease: - Beth Israel Deaconess: Celiac Center - Columbia University Celiac Disease Center - Gene Review: Gene Review: Celiac Disease - Genetic Testing Registry: Celiac disease - Massachusetts General Hospital Center for Celiac Research and Treatment ... | celiac disease |
What is (are) IRAK-4 deficiency ? | IRAK-4 deficiency is an inherited disorder of the immune system (primary immunodeficiency). This immunodeficiency leads to recurrent infections by a subset of bacteria known as pyogenic bacteria but not by other infectious agents. (Infection with pyogenic bacteria causes the production of pus.) The most common infectio... | IRAK-4 deficiency |
How many people are affected by IRAK-4 deficiency ? | IRAK-4 deficiency is a very rare condition, although the exact prevalence is unknown. At least 49 individuals with this condition have been described in the scientific literature. | IRAK-4 deficiency |
What are the genetic changes related to IRAK-4 deficiency ? | IRAK-4 deficiency is caused by mutations in the IRAK4 gene, which provides instructions for making a protein that plays an important role in stimulating the immune system to respond to infection. The IRAK-4 protein is part of a signaling pathway that is involved in early recognition of foreign invaders (pathogens) and ... | IRAK-4 deficiency |
Is IRAK-4 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. | IRAK-4 deficiency |
What are the treatments for IRAK-4 deficiency ? | These resources address the diagnosis or management of IRAK-4 deficiency: - Genetic Testing Registry: IRAK4 deficiency These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Couns... | IRAK-4 deficiency |
What is (are) Weissenbacher-Zweymller syndrome ? | Weissenbacher-Zweymller syndrome is a condition that affects bone growth. It is characterized by skeletal abnormalities, hearing loss, and distinctive facial features. This condition has features that are similar to those of another skeletal disorder, otospondylomegaepiphyseal dysplasia (OSMED). Infants born with Weis... | Weissenbacher-Zweymller syndrome |
How many people are affected by Weissenbacher-Zweymller syndrome ? | Weissenbacher-Zweymller syndrome is very rare; only a few families with the disorder have been reported worldwide. | Weissenbacher-Zweymller syndrome |
What are the genetic changes related to Weissenbacher-Zweymller syndrome ? | Mutations in the COL11A2 gene cause Weissenbacher-Zweymller syndrome. The COL11A2 gene is one of several genes that provide instructions for the production of type XI collagen. This type of collagen is important for the normal development of bones and other connective tissues that form the body's supportive framework. ... | Weissenbacher-Zweymller syndrome |
Is Weissenbacher-Zweymller 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. | Weissenbacher-Zweymller syndrome |
What are the treatments for Weissenbacher-Zweymller syndrome ? | These resources address the diagnosis or management of Weissenbacher-Zweymller syndrome: - Genetic Testing Registry: Weissenbacher-Zweymuller syndrome These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and... | Weissenbacher-Zweymller syndrome |
What is (are) hereditary angioedema ? | Hereditary angioedema is a disorder characterized by recurrent episodes of severe swelling (angioedema). The most common areas of the body to develop swelling are the limbs, face, intestinal tract, and airway. Minor trauma or stress may trigger an attack, but swelling often occurs without a known trigger. Episodes invo... | hereditary angioedema |
How many people are affected by hereditary angioedema ? | Hereditary angioedema is estimated to affect 1 in 50,000 people. Type I is the most common, accounting for 85 percent of cases. Type II occurs in 15 percent of cases, and type III is very rare. | hereditary angioedema |
What are the genetic changes related to hereditary angioedema ? | Mutations in the SERPING1 gene cause hereditary angioedema type I and type II. The SERPING1 gene provides instructions for making the C1 inhibitor protein, which is important for controlling inflammation. C1 inhibitor blocks the activity of certain proteins that promote inflammation. Mutations that cause hereditary ang... | hereditary angioedema |
Is hereditary angioedema inherited ? | This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In some cases, an affected person inherits the mutation from one affected parent. Other cases result from new mutations in the gene and occur in people with no histor... | hereditary angioedema |
What are the treatments for hereditary angioedema ? | These resources address the diagnosis or management of hereditary angioedema: - Genetic Testing Registry: Hereditary C1 esterase inhibitor deficiency - dysfunctional factor - Genetic Testing Registry: Hereditary angioneurotic edema - Genetic Testing Registry: Hereditary angioneurotic edema with normal C1 esterase in... | hereditary angioedema |
What is (are) spondylothoracic dysostosis ? | Spondylothoracic dysostosis is a condition characterized by the malformation of the bones of the spine and ribs. The bones of the spine (vertebrae) do not develop properly, which causes them to be misshapen and abnormally joined together (fused). The ribs are also fused at the part nearest the spine (posteriorly), whic... | spondylothoracic dysostosis |
How many people are affected by spondylothoracic dysostosis ? | Spondylothoracic dysostosis affects about one in 200,000 people worldwide. However, it is much more common in people of Puerto Rican ancestry, affecting approximately one in 12,000 people. | spondylothoracic dysostosis |
What are the genetic changes related to spondylothoracic dysostosis ? | The MESP2 gene provides instructions for a protein that plays a critical role in the development of vertebrae. Specifically, it is involved in separating vertebrae from one another during early development, a process called somite segmentation. Mutations in the MESP2 gene prevent the production of any protein or lead t... | spondylothoracic dysostosis |
Is spondylothoracic dysostosis 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. | spondylothoracic dysostosis |
What are the treatments for spondylothoracic dysostosis ? | These resources address the diagnosis or management of spondylothoracic dysostosis: - Cleveland Clinic: Spine X-ray - Gene Review: Gene Review: Spondylocostal Dysostosis, Autosomal Recessive These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagno... | spondylothoracic dysostosis |
What is (are) juvenile idiopathic arthritis ? | Juvenile idiopathic arthritis refers to a group of conditions involving joint inflammation (arthritis) that first appears before the age of 16. This condition is an autoimmune disorder, which means that the immune system malfunctions and attacks the body's organs and tissues, in this case the joints. Researchers have ... | juvenile idiopathic arthritis |
How many people are affected by juvenile idiopathic arthritis ? | The incidence of juvenile idiopathic arthritis in North America and Europe is estimated to be 4 to 16 in 10,000 children. One in 1,000, or approximately 294,000, children in the United States are affected. The most common type of juvenile idiopathic arthritis in the United States is oligoarticular juvenile idiopathic a... | juvenile idiopathic arthritis |
What are the genetic changes related to juvenile idiopathic arthritis ? | Juvenile idiopathic arthritis is thought to arise from a combination of genetic and environmental factors. The term "idiopathic" indicates that the specific cause of the disorder is unknown. Its signs and symptoms result from excessive inflammation in and around the joints. Inflammation occurs when the immune system se... | juvenile idiopathic arthritis |
Is juvenile idiopathic arthritis inherited ? | Most cases of juvenile idiopathic arthritis are sporadic, which means they occur in people with no history of the disorder in their family. A small percentage of cases of juvenile idiopathic arthritis have been reported to run in families, although the inheritance pattern of the condition is unclear. A sibling of a per... | juvenile idiopathic arthritis |
What are the treatments for juvenile idiopathic arthritis ? | These resources address the diagnosis or management of juvenile idiopathic arthritis: - American College of Rheumatology: Arthritis in Children - Genetic Testing Registry: Rheumatoid arthritis, systemic juvenile These resources from MedlinePlus offer information about the diagnosis and management of various health ... | juvenile idiopathic arthritis |
What is (are) spina bifida ? | Spina bifida is a condition in which the neural tube, a layer of cells that ultimately develops into the brain and spinal cord, fails to close completely during the first few weeks of embryonic development. As a result, when the spine forms, the bones of the spinal column do not close completely around the developing n... | spina bifida |
How many people are affected by spina bifida ? | Spina bifida is one of the most common types of neural tube defect, affecting an estimated 1 in 2,500 newborns worldwide. For unknown reasons, the prevalence of spina bifida varies among different geographic regions and ethnic groups. In the United States, this condition occurs more frequently in Hispanics and non-Hisp... | spina bifida |
What are the genetic changes related to spina bifida ? | Spina bifida is a complex condition that is likely caused by the interaction of multiple genetic and environmental factors. Some of these factors have been identified, but many remain unknown. Changes in dozens of genes in individuals with spina bifida and in their mothers may influence the risk of developing this typ... | spina bifida |
Is spina bifida inherited ? | Most cases of spina bifida are sporadic, which means they occur in people with no history of the disorder in their family. A small percentage of cases have been reported to run in families; however, the condition does not have a clear pattern of inheritance. First-degree relatives (such as siblings and children) of peo... | spina bifida |
What are the treatments for spina bifida ? | These resources address the diagnosis or management of spina bifida: - Benioff Children's Hospital, University of California, San Francisco: Treatment of Spina Bifida - Centers for Disease Control and Prevention: Living with Spina Bifida - GeneFacts: Spina Bifida: Diagnosis - GeneFacts: Spina Bifida: Management - ... | spina bifida |
What is (are) Jervell and Lange-Nielsen syndrome ? | Jervell and Lange-Nielsen syndrome is a condition that causes profound hearing loss from birth and a disruption of the heart's normal rhythm (arrhythmia). This disorder is a form of long QT syndrome, which is a heart condition that causes the heart (cardiac) muscle to take longer than usual to recharge between beats. B... | Jervell and Lange-Nielsen syndrome |
How many people are affected by Jervell and Lange-Nielsen syndrome ? | Jervell and Lange-Nielsen syndrome is uncommon; it affects an estimated 1.6 to 6 per 1 million people worldwide. This condition has a higher prevalence in Denmark, where it affects at least 1 in 200,000 people. | Jervell and Lange-Nielsen syndrome |
What are the genetic changes related to Jervell and Lange-Nielsen syndrome ? | Mutations in the KCNE1 and KCNQ1 genes cause Jervell and Lange-Nielsen syndrome. The KCNE1 and KCNQ1 genes provide instructions for making proteins that work together to form a channel across cell membranes. These channels transport positively charged potassium atoms (ions) out of cells. The movement of potassium ions... | Jervell and Lange-Nielsen syndrome |
Is Jervell and Lange-Nielsen syndrome inherited ? | This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. Most often, the parents of a child with an autosomal recessive disorder are not affected, but are carriers of one copy of the mutated gene. Some carriers of a KCNQ1 or KCNE1 mutation have sign... | Jervell and Lange-Nielsen syndrome |
What are the treatments for Jervell and Lange-Nielsen syndrome ? | These resources address the diagnosis or management of Jervell and Lange-Nielsen syndrome: - Gene Review: Gene Review: Jervell and Lange-Nielsen Syndrome - Genetic Testing Registry: Jervell and Lange-Nielsen syndrome - MedlinePlus Encyclopedia: Arrhythmias These resources from MedlinePlus offer information about t... | Jervell and Lange-Nielsen syndrome |
What is (are) phosphoribosylpyrophosphate synthetase superactivity ? | Phosphoribosylpyrophosphate synthetase superactivity (PRS superactivity) is characterized by the overproduction and accumulation of uric acid (a waste product of normal chemical processes) in the blood and urine. The overproduction of uric acid can lead to gout, which is arthritis caused by an accumulation of uric acid... | phosphoribosylpyrophosphate synthetase superactivity |
How many people are affected by phosphoribosylpyrophosphate synthetase superactivity ? | PRS superactivity is believed to be a rare disorder. Approximately 30 families with the condition have been reported. More than two thirds of these families are affected by the milder form of the disease. | phosphoribosylpyrophosphate synthetase superactivity |
What are the genetic changes related to phosphoribosylpyrophosphate synthetase superactivity ? | Certain mutations in the PRPS1 gene cause PRS superactivity. The PRPS1 gene provides instructions for making an enzyme called phosphoribosyl pyrophosphate synthetase 1, or PRPP synthetase 1. This enzyme helps produce a molecule called phosphoribosyl pyrophosphate (PRPP). PRPP is involved in producing purine and pyrimid... | phosphoribosylpyrophosphate synthetase superactivity |
Is phosphoribosylpyrophosphate synthetase superactivity 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 males (who have only one X chromosome), a mutation in the only copy of the gene in each cell causes the disorder. In females (who have two X chromosomes... | phosphoribosylpyrophosphate synthetase superactivity |
What are the treatments for phosphoribosylpyrophosphate synthetase superactivity ? | These resources address the diagnosis or management of PRS superactivity: - Gene Review: Gene Review: Phosphoribosylpyrophosphate Synthetase Superactivity - Genetic Testing Registry: Phosphoribosylpyrophosphate synthetase superactivity - MedlinePlus Encyclopedia: Hearing Loss - MedlinePlus Encyclopedia: Movement, U... | phosphoribosylpyrophosphate synthetase superactivity |
What is (are) short stature, hyperextensibility, hernia, ocular depression, Rieger anomaly, and teething delay ? | Short stature, hyperextensibility, hernia, ocular depression, Rieger anomaly, and teething delay, commonly known by the acronym SHORT syndrome, is a rare disorder that affects many parts of the body. Most people with SHORT syndrome are small at birth and gain weight slowly in childhood. Affected adults tend to have sh... | short stature, hyperextensibility, hernia, ocular depression, Rieger anomaly, and teething delay |
How many people are affected by short stature, hyperextensibility, hernia, ocular depression, Rieger anomaly, and teething delay ? | SHORT syndrome is a rare condition; its prevalence is unknown. Only a few affected individuals and families have been reported worldwide. | short stature, hyperextensibility, hernia, ocular depression, Rieger anomaly, and teething delay |
What are the genetic changes related to short stature, hyperextensibility, hernia, ocular depression, Rieger anomaly, and teething delay ? | SHORT syndrome results from mutations in the PIK3R1 gene. This gene provides instructions for making one part (subunit) of an enzyme called PI3K, which plays a role in chemical signaling within cells. PI3K signaling is important for many cell activities, including cell growth and division, movement (migration) of cells... | short stature, hyperextensibility, hernia, ocular depression, Rieger anomaly, and teething delay |
Is short stature, hyperextensibility, hernia, ocular depression, Rieger anomaly, and teething delay inherited ? | SHORT syndrome has an autosomal dominant pattern of inheritance, which means one copy of the altered PIK3R1 gene in each cell is sufficient to cause the disorder. In most cases, the condition results from a new mutation in the gene and occurs in people with no history of the disorder in their family. In other cases, an... | short stature, hyperextensibility, hernia, ocular depression, Rieger anomaly, and teething delay |
What are the treatments for short stature, hyperextensibility, hernia, ocular depression, Rieger anomaly, and teething delay ? | These resources address the diagnosis or management of SHORT syndrome: - Gene Review: Gene Review: SHORT Syndrome - Genetic Testing Registry: SHORT syndrome These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surg... | short stature, hyperextensibility, hernia, ocular depression, Rieger anomaly, and teething delay |
What is (are) Ochoa syndrome ? | Ochoa syndrome is a disorder characterized by urinary problems and unusual facial expressions. The urinary problems associated with Ochoa syndrome typically become apparent in early childhood or adolescence. People with this disorder may have difficulty controlling the flow of urine (incontinence), which can lead to b... | Ochoa syndrome |
How many people are affected by Ochoa syndrome ? | Ochoa syndrome is a rare disorder. About 150 cases have been reported in the medical literature. | Ochoa syndrome |
What are the genetic changes related to Ochoa syndrome ? | Ochoa syndrome can be caused by mutations in the HPSE2 gene. This gene provides instructions for making a protein called heparanase 2. The function of this protein is not well understood. Mutations in the HPSE2 gene that cause Ochoa syndrome result in changes in the heparanase 2 protein that likely prevent it from fun... | Ochoa syndrome |
Is Ochoa 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. | Ochoa syndrome |
What are the treatments for Ochoa syndrome ? | These resources address the diagnosis or management of Ochoa syndrome: - Gene Review: Gene Review: Urofacial Syndrome - Genetic Testing Registry: Ochoa syndrome - National Institute of Diabetes and Digestive and Kidney Diseases: Urodynamic Testing - Scripps Health: Self-Catheterization -- Female - Scripps Health: ... | Ochoa syndrome |
What is (are) Rubinstein-Taybi syndrome ? | Rubinstein-Taybi syndrome is a condition characterized by short stature, moderate to severe intellectual disability, distinctive facial features, and broad thumbs and first toes. Additional features of the disorder can include eye abnormalities, heart and kidney defects, dental problems, and obesity. These signs and sy... | Rubinstein-Taybi syndrome |
How many people are affected by Rubinstein-Taybi syndrome ? | This condition is uncommon; it occurs in an estimated 1 in 100,000 to 125,000 newborns. | Rubinstein-Taybi syndrome |
What are the genetic changes related to Rubinstein-Taybi syndrome ? | Mutations in the CREBBP gene are responsible for some cases of Rubinstein-Taybi syndrome. The CREBBP gene provides instructions for making a protein that helps control the activity of many other genes. This protein, called CREB binding protein, plays an important role in regulating cell growth and division and is essen... | Rubinstein-Taybi syndrome |
Is Rubinstein-Taybi syndrome inherited ? | This condition is considered to have an autosomal dominant pattern of inheritance, which means one copy of the altered 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. | Rubinstein-Taybi syndrome |
What are the treatments for Rubinstein-Taybi syndrome ? | These resources address the diagnosis or management of Rubinstein-Taybi syndrome: - Gene Review: Gene Review: Rubinstein-Taybi Syndrome - Genetic Testing Registry: Rubinstein-Taybi syndrome - MedlinePlus Encyclopedia: Rubinstein-Taybi syndrome These resources from MedlinePlus offer information about the diagnosis ... | Rubinstein-Taybi syndrome |
What is (are) blepharophimosis, ptosis, and epicanthus inversus syndrome ? | Blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES) is a condition that mainly affects development of the eyelids. People with this condition have a narrowing of the eye opening (blepharophimosis), droopy eyelids (ptosis), and an upward fold of the skin of the lower eyelid near the inner corner of the eye... | blepharophimosis, ptosis, and epicanthus inversus syndrome |
How many people are affected by blepharophimosis, ptosis, and epicanthus inversus syndrome ? | The prevalence of BPES is unknown. | blepharophimosis, ptosis, and epicanthus inversus syndrome |
What are the genetic changes related to blepharophimosis, ptosis, and epicanthus inversus syndrome ? | Mutations in the FOXL2 gene cause BPES types I and II. The FOXL2 gene provides instructions for making a protein that is active in the eyelids and ovaries. The FOXL2 protein is likely involved in the development of muscles in the eyelids. Before birth and in adulthood, the protein regulates the growth and development o... | blepharophimosis, ptosis, and epicanthus inversus syndrome |
Is blepharophimosis, ptosis, and epicanthus inversus syndrome inherited ? | This condition is typically inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In some cases, an affected person inherits the mutation from one affected parent. Other cases result from new mutations in the gene and occur in people with... | blepharophimosis, ptosis, and epicanthus inversus syndrome |
What are the treatments for blepharophimosis, ptosis, and epicanthus inversus syndrome ? | These resources address the diagnosis or management of BPES: - Gene Review: Gene Review: Blepharophimosis, Ptosis, and Epicanthus Inversus - Genetic Testing Registry: Blepharophimosis, ptosis, and epicanthus inversus - MedlinePlus Encyclopedia: Ptosis These resources from MedlinePlus offer information about the di... | blepharophimosis, ptosis, and epicanthus inversus syndrome |
What is (are) isolated Duane retraction syndrome ? | Isolated Duane retraction syndrome is a disorder of eye movement. This condition prevents outward movement of the eye (toward the ear), and in some cases may also limit inward eye movement (toward the nose). As the eye moves inward, the eyelids partially close and the eyeball pulls back (retracts) into its socket. Most... | isolated Duane retraction syndrome |
How many people are affected by isolated Duane retraction syndrome ? | Isolated Duane retraction syndrome affects an estimated 1 in 1,000 people worldwide. This condition accounts for 1 percent to 5 percent of all cases of abnormal eye alignment (strabismus). For unknown reasons, isolated Duane syndrome affects females more often than males. | isolated Duane retraction syndrome |
What are the genetic changes related to isolated Duane retraction syndrome ? | In most people with isolated Duane retraction syndrome, the cause of the condition is unknown. However, researchers have identified mutations in one gene, CHN1, that cause the disorder in a small number of families. The CHN1 gene provides instructions for making a protein that is involved in the early development of th... | isolated Duane retraction syndrome |
Is isolated Duane retraction syndrome inherited ? | Isolated Duane retraction syndrome usually occurs in people with no history of the disorder in their family. These cases are described as simplex, and their genetic cause is unknown. Less commonly, isolated Duane retraction syndrome can run in families. Familial cases most often have an autosomal dominant pattern of i... | isolated Duane retraction syndrome |
What are the treatments for isolated Duane retraction syndrome ? | These resources address the diagnosis or management of isolated Duane retraction syndrome: - Gene Review: Gene Review: Duane Syndrome - Genetic Testing Registry: Duane's syndrome - MedlinePlus Encyclopedia: Extraocular Muscle Function Testing These resources from MedlinePlus offer information about the diagnosis a... | isolated Duane retraction syndrome |
What is (are) autosomal recessive hypotrichosis ? | Autosomal recessive hypotrichosis is a condition that affects hair growth. People with this condition have sparse hair (hypotrichosis) on the scalp beginning in infancy. This hair is usually coarse, dry, and tightly curled (often described as woolly hair). Scalp hair may also be lighter in color than expected and is fr... | autosomal recessive hypotrichosis |
How many people are affected by autosomal recessive hypotrichosis ? | The worldwide prevalence of autosomal recessive hypotrichosis is unknown. In Japan, the condition is estimated to affect 1 in 10,000 individuals. | autosomal recessive hypotrichosis |
What are the genetic changes related to autosomal recessive hypotrichosis ? | Autosomal recessive hypotrichosis can be caused by mutations in the LIPH, LPAR6, or DSG4 gene. These genes provide instructions for making proteins that are involved in the growth and division (proliferation) and maturation (differentiation) of cells within hair follicles. These cell processes are important for the nor... | autosomal recessive hypotrichosis |
Is autosomal recessive hypotrichosis 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 hypotrichosis |
What are the treatments for autosomal recessive hypotrichosis ? | These resources address the diagnosis or management of autosomal recessive hypotrichosis: - American Academy of Dermatology: Hair Loss: Tips for Managing - Genetic Testing Registry: Hypotrichosis 8 These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: -... | autosomal recessive hypotrichosis |
What is (are) multiple lentigines syndrome ? | Multiple lentigines syndrome (formerly called LEOPARD syndrome) is a condition that affects many areas of the body. The characteristic features associated with the condition include brown skin spots called lentigines that are similar to freckles, abnormalities in the electrical signals that control the heartbeat, widel... | multiple lentigines syndrome |
How many people are affected by multiple lentigines syndrome ? | Multiple lentigines syndrome is thought to be a rare condition; approximately 200 cases have been reported worldwide. | multiple lentigines syndrome |
What are the genetic changes related to multiple lentigines syndrome ? | Mutations in the PTPN11, RAF1, or BRAF genes cause multiple lentigines syndrome. Approximately 90 percent of individuals with multiple lentigines syndrome have mutations in the PTPN11 gene. RAF1 and BRAF gene mutations are responsible for a total of about 10 percent of cases. A small proportion of people with multiple ... | multiple lentigines syndrome |
Is multiple lentigines 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. | multiple lentigines syndrome |
What are the treatments for multiple lentigines syndrome ? | These resources address the diagnosis or management of multiple lentigines syndrome: - Cincinnati Children's Hospital: Cardiomyopathies - Gene Review: Gene Review: Noonan Syndrome with Multiple Lentigines - Genetic Testing Registry: LEOPARD syndrome 1 - Genetic Testing Registry: LEOPARD syndrome 2 - Genetic Testin... | multiple lentigines syndrome |
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