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What is (are) X-linked infantile spasm syndrome ? | X-linked infantile spasm syndrome is a seizure disorder characterized by a type of seizure known as infantile spasms. The spasms usually appear before the age of 1. Several types of spasms have been described, but the most commonly reported involves bending at the waist and neck with extension of the arms and legs (som... | X-linked infantile spasm syndrome |
How many people are affected by X-linked infantile spasm syndrome ? | Infantile spasms are estimated to affect 1 to 1.6 in 100,000 individuals. This estimate includes X-linked infantile spasm syndrome as well as infantile spasms that have other causes. | X-linked infantile spasm syndrome |
What are the genetic changes related to X-linked infantile spasm syndrome ? | X-linked infantile spasm syndrome is caused by mutations in either the ARX gene or the CDKL5 gene. The proteins produced from these genes play a role in the normal functioning of the brain. The ARX protein is involved in the regulation of other genes that contribute to brain development. The CDKL5 protein is thought to... | X-linked infantile spasm syndrome |
Is X-linked infantile spasm syndrome inherited ? | X-linked infantile spasm syndrome can have different inheritance patterns depending on the genetic cause. When caused by mutations in the ARX gene, this condition is inherited in an X-linked recessive pattern. The ARX gene is located on the X chromosome, which is one of the two sex chromosomes. In males (who have only... | X-linked infantile spasm syndrome |
What are the treatments for X-linked infantile spasm syndrome ? | These resources address the diagnosis or management of X-linked infantile spasm syndrome: - Child Neurology Foundation - Genetic Testing Registry: Early infantile epileptic encephalopathy 2 - Genetic Testing Registry: West syndrome These resources from MedlinePlus offer information about the diagnosis and manageme... | X-linked infantile spasm syndrome |
What is (are) tetra-amelia syndrome ? | Tetra-amelia syndrome is a very rare disorder characterized by the absence of all four limbs. ("Tetra" is the Greek word for "four," and "amelia" refers to the failure of an arm or leg to develop before birth.) This syndrome can also cause severe malformations of other parts of the body, including the face and head, he... | tetra-amelia syndrome |
How many people are affected by tetra-amelia syndrome ? | Tetra-amelia syndrome has been reported in only a few families worldwide. | tetra-amelia syndrome |
What are the genetic changes related to tetra-amelia syndrome ? | Researchers have found a mutation in the WNT3 gene in people with tetra-amelia syndrome from one large family. This gene is part of a family of WNT genes that play critical roles in development before birth. The protein produced from the WNT3 gene is involved in the formation of the limbs and other body systems during ... | tetra-amelia syndrome |
Is tetra-amelia syndrome inherited ? | In most of the families reported so far, tetra-amelia syndrome appears to have an autosomal recessive pattern of inheritance. Autosomal recessive inheritance means both copies of the gene in each cell have mutations. The parents of an individual with tetra-amelia syndrome each carry one copy of the mutated gene, but do... | tetra-amelia syndrome |
What are the treatments for tetra-amelia syndrome ? | These resources address the diagnosis or management of tetra-amelia syndrome: - Gene Review: Gene Review: Tetra-Amelia Syndrome - Genetic Testing Registry: Tetraamelia, autosomal recessive These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnost... | tetra-amelia syndrome |
What is (are) X-linked creatine deficiency ? | X-linked creatine deficiency is an inherited disorder that primarily affects the brain. People with this disorder have intellectual disability, which can range from mild to severe, and delayed speech development. Some affected individuals develop behavioral disorders such as attention deficit hyperactivity disorder or ... | X-linked creatine deficiency |
How many people are affected by X-linked creatine deficiency ? | The prevalence of X-linked creatine deficiency is unknown. More than 150 affected individuals have been identified. The disorder has been estimated to account for between 1 and 2 percent of males with intellectual disability. | X-linked creatine deficiency |
What are the genetic changes related to X-linked creatine deficiency ? | Mutations in the SLC6A8 gene cause X-linked creatine deficiency. The SLC6A8 gene provides instructions for making a protein that transports the compound creatine into cells. Creatine is needed for the body to store and use energy properly. SLC6A8 gene mutations impair the ability of the transporter protein to bring cr... | X-linked creatine deficiency |
Is X-linked creatine deficiency 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... | X-linked creatine deficiency |
What are the treatments for X-linked creatine deficiency ? | These resources address the diagnosis or management of X-linked creatine deficiency: - Gene Review: Gene Review: Creatine Deficiency Syndromes - Genetic Testing Registry: Creatine deficiency, X-linked These resources from MedlinePlus offer information about the diagnosis and management of various health conditions:... | X-linked creatine deficiency |
What is (are) Schindler disease ? | Schindler disease is an inherited disorder that primarily causes neurological problems. There are three types of Schindler disease. Schindler disease type I, also called the infantile type, is the most severe form. Babies with Schindler disease type I appear healthy at birth, but by the age of 8 to 15 months they stop... | Schindler disease |
How many people are affected by Schindler disease ? | Schindler disease is very rare. Only a few individuals with each type of the disorder have been identified. | Schindler disease |
What are the genetic changes related to Schindler disease ? | Mutations in the NAGA gene cause Schindler disease. The NAGA gene provides instructions for making the enzyme alpha-N-acetylgalactosaminidase. This enzyme works in the lysosomes, which are compartments within cells that digest and recycle materials. Within lysosomes, the enzyme helps break down complexes called glycopr... | Schindler disease |
Is Schindler disease inherited ? | This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. | Schindler disease |
What are the treatments for Schindler disease ? | These resources address the diagnosis or management of Schindler disease: - Genetic Testing Registry: Kanzaki disease - Genetic Testing Registry: Schindler disease, type 1 These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug ... | Schindler disease |
What is (are) propionic acidemia ? | Propionic acidemia is an inherited disorder in which the body is unable to process certain parts of proteins and lipids (fats) properly. It is classified as an organic acid disorder, which is a condition that leads to an abnormal buildup of particular acids known as organic acids. Abnormal levels of organic acids in th... | propionic acidemia |
How many people are affected by propionic acidemia ? | Propionic acidemia affects about 1 in 100,000 people in the United States. The condition appears to be more common in several populations worldwide, including the Inuit population of Greenland, some Amish communities, and Saudi Arabians. | propionic acidemia |
What are the genetic changes related to propionic acidemia ? | Mutations in the PCCA and PCCB genes cause propionic acidemia. The PCCA and PCCB genes provide instructions for making two parts (subunits) of an enzyme called propionyl-CoA carboxylase. This enzyme plays a role in the normal breakdown of proteins. Specifically, it helps process several amino acids, which are the buil... | propionic acidemia |
Is propionic acidemia 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. | propionic acidemia |
What are the treatments for propionic acidemia ? | These resources address the diagnosis or management of propionic acidemia: - Baby's First Test - Gene Review: Gene Review: Propionic Acidemia - Genetic Testing Registry: Propionic acidemia These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnos... | propionic acidemia |
What is (are) 22q13.3 deletion syndrome ? | 22q13.3 deletion syndrome, which is also commonly known as Phelan-McDermid syndrome, is a disorder caused by the loss of a small piece of chromosome 22. The deletion occurs near the end of the chromosome at a location designated q13.3. The features of 22q13.3 deletion syndrome vary widely and involve many parts of the... | 22q13.3 deletion syndrome |
How many people are affected by 22q13.3 deletion syndrome ? | At least 500 cases of 22q13.3 deletion syndrome are known. | 22q13.3 deletion syndrome |
What are the genetic changes related to 22q13.3 deletion syndrome ? | 22q13.3 deletion syndrome is caused by a deletion near the end of the long (q) arm of chromosome 22. The signs and symptoms of 22q13.3 deletion syndrome are probably related to the loss of multiple genes in this region. The size of the deletion varies among affected individuals. A ring chromosome 22 can also cause 22q... | 22q13.3 deletion syndrome |
Is 22q13.3 deletion syndrome inherited ? | Most cases of 22q13.3 deletion syndrome are not inherited. The deletion occurs most often as a random event during the formation of reproductive cells (eggs or sperm) or in early fetal development. Affected people typically have no history of the disorder in their family, though they can pass the chromosome deletion to... | 22q13.3 deletion syndrome |
What are the treatments for 22q13.3 deletion syndrome ? | These resources address the diagnosis or management of 22q13.3 deletion syndrome: - Gene Review: Gene Review: Phelan-McDermid Syndrome - Genetic Testing Registry: 22q13.3 deletion syndrome - MedlinePlus Encyclopedia: Sweating--absent These resources from MedlinePlus offer information about the diagnosis and manage... | 22q13.3 deletion syndrome |
What is (are) Peters plus syndrome ? | Peters plus syndrome is an inherited condition that is characterized by eye abnormalities, short stature, an opening in the lip (cleft lip) with or without an opening in the roof of the mouth (cleft palate), distinctive facial features, and intellectual disability. The eye problems in Peters plus syndrome occur in an ... | Peters plus syndrome |
How many people are affected by Peters plus syndrome ? | Peters plus syndrome is a rare disorder; its incidence is unknown. Fewer than 80 people with this condition have been reported worldwide. | Peters plus syndrome |
What are the genetic changes related to Peters plus syndrome ? | Mutations in the B3GLCT gene cause Peters plus syndrome. The B3GLCT gene provides instructions for making an enzyme called beta 3-glucosyltransferase (B3Glc-T), which is involved in the complex process of adding sugar molecules to proteins (glycosylation). Glycosylation modifies proteins so they can perform a wider var... | Peters plus syndrome |
Is Peters plus 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. | Peters plus syndrome |
What are the treatments for Peters plus syndrome ? | These resources address the diagnosis or management of Peters plus syndrome: - Gene Review: Gene Review: Peters Plus Syndrome - Genetic Testing Registry: Peters plus syndrome These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Dr... | Peters plus syndrome |
What is (are) TK2-related mitochondrial DNA depletion syndrome, myopathic form ? | TK2-related mitochondrial DNA depletion syndrome, myopathic form (TK2-MDS) is an inherited condition that causes progressive muscle weakness (myopathy). The signs and symptoms of TK2-MDS typically begin in early childhood. Development is usually normal early in life, but as muscle weakness progresses, people with TK2-... | TK2-related mitochondrial DNA depletion syndrome, myopathic form |
How many people are affected by TK2-related mitochondrial DNA depletion syndrome, myopathic form ? | The prevalence of TK2-MDS is unknown. Approximately 45 cases have been described. | TK2-related mitochondrial DNA depletion syndrome, myopathic form |
What are the genetic changes related to TK2-related mitochondrial DNA depletion syndrome, myopathic form ? | As the condition name suggests, mutations in the TK2 gene cause TK2-MDS. The TK2 gene provides instructions for making an enzyme called thymidine kinase 2 that functions within cell structures called mitochondria, which are found in all tissues. Mitochondria are involved in a wide variety of cellular activities, includ... | TK2-related mitochondrial DNA depletion syndrome, myopathic form |
Is TK2-related mitochondrial DNA depletion syndrome, myopathic form 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. | TK2-related mitochondrial DNA depletion syndrome, myopathic form |
What are the treatments for TK2-related mitochondrial DNA depletion syndrome, myopathic form ? | These resources address the diagnosis or management of TK2-related mitochondrial DNA depletion syndrome, myopathic form: - Cincinnati Children's Hospital: Mitochondrial Diseases Program - Gene Review: Gene Review: TK2-Related Mitochondrial DNA Depletion Syndrome, Myopathic Form These resources from MedlinePlus offe... | TK2-related mitochondrial DNA depletion syndrome, myopathic form |
What is (are) Pol III-related leukodystrophy ? | Pol III-related leukodystrophy is a disorder that affects the nervous system and other parts of the body. Leukodystrophies are conditions that involve abnormalities of the nervous system's white matter, which consists of nerve fibers covered by a fatty substance called myelin. Myelin insulates nerve fibers and promotes... | Pol III-related leukodystrophy |
How many people are affected by Pol III-related leukodystrophy ? | Pol III-related leukodystrophy is a rare disorder; its prevalence is unknown. Only about 40 cases have been described in the medical literature. However, researchers believe that a significant percentage of people with an unspecified hypomyelinating leukodystrophy could have Pol III-related leukodystrophy. | Pol III-related leukodystrophy |
What are the genetic changes related to Pol III-related leukodystrophy ? | Pol III-related leukodystrophy is caused by mutations in the POLR3A or POLR3B gene. These genes provide instructions for making the two largest parts (subunits) of an enzyme called RNA polymerase III. This enzyme is involved in the production (synthesis) of ribonucleic acid (RNA), a chemical cousin of DNA. The RNA poly... | Pol III-related leukodystrophy |
Is Pol III-related leukodystrophy 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. | Pol III-related leukodystrophy |
What are the treatments for Pol III-related leukodystrophy ? | These resources address the diagnosis or management of Pol III-related leukodystrophy: - Eastman Dental Hospital: Hypodontia Clinic - Gene Review: Gene Review: Pol III-Related Leukodystrophies - Genetic Testing Registry: Pol III-related leukodystrophy - Johns Hopkins Medicine: Treating Ataxia - National Ataxia Fou... | Pol III-related leukodystrophy |
What is (are) VACTERL association ? | VACTERL association is a disorder that affects many body systems. VACTERL stands for vertebral defects, anal atresia, cardiac defects, tracheo-esophageal fistula, renal anomalies, and limb abnormalities. People diagnosed with VACTERL association typically have at least three of these characteristic features. Affected i... | VACTERL association |
How many people are affected by VACTERL association ? | VACTERL association occurs in 1 in 10,000 to 40,000 newborns. | VACTERL association |
What are the genetic changes related to VACTERL association ? | VACTERL association is a complex condition that may have different causes in different people. In some people, the condition is likely caused by the interaction of multiple genetic and environmental factors. Some possible genetic and environmental influences have been identified and are being studied. The developmenta... | VACTERL association |
Is VACTERL association inherited ? | Most cases of VACTERL association are sporadic, which means they occur in people with no history of the condition in their family. Rarely, families have multiple people affected with VACTERL association. A few affected individuals have family members with one or two features, but not enough signs to be diagnosed with t... | VACTERL association |
What are the treatments for VACTERL association ? | These resources address the diagnosis or management of VACTERL association: - MedlinePlus Encyclopedia: Tracheoesophageal Fistula and Esophageal Atresia Repair These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Su... | VACTERL association |
What is (are) dihydropyrimidinase deficiency ? | Dihydropyrimidinase deficiency is a disorder that can cause neurological and gastrointestinal problems in some affected individuals. Other people with dihydropyrimidinase deficiency have no signs or symptoms related to the disorder, and in these individuals the condition can be diagnosed only by laboratory testing. Th... | dihydropyrimidinase deficiency |
How many people are affected by dihydropyrimidinase deficiency ? | Dihydropyrimidinase deficiency is thought to be a rare disorder. Only a few dozen affected individuals have been described in the medical literature. | dihydropyrimidinase deficiency |
What are the genetic changes related to dihydropyrimidinase deficiency ? | Dihydropyrimidinase deficiency is caused by mutations in the DPYS gene, which provides instructions for making an enzyme called dihydropyrimidinase. This enzyme is involved in the breakdown of molecules called pyrimidines, which are building blocks of DNA and its chemical cousin RNA. The dihydropyrimidinase enzyme is i... | dihydropyrimidinase deficiency |
Is dihydropyrimidinase 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. | dihydropyrimidinase deficiency |
What are the treatments for dihydropyrimidinase deficiency ? | These resources address the diagnosis or management of dihydropyrimidinase deficiency: - Genetic Testing Registry: Dihydropyrimidinase deficiency These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Reha... | dihydropyrimidinase deficiency |
What is (are) neurofibromatosis type 1 ? | Neurofibromatosis type 1 is a condition characterized by changes in skin coloring (pigmentation) and the growth of tumors along nerves in the skin, brain, and other parts of the body. The signs and symptoms of this condition vary widely among affected people. Beginning in early childhood, almost all people with neurof... | neurofibromatosis type 1 |
How many people are affected by neurofibromatosis type 1 ? | Neurofibromatosis type 1 occurs in 1 in 3,000 to 4,000 people worldwide. | neurofibromatosis type 1 |
What are the genetic changes related to neurofibromatosis type 1 ? | Mutations in the NF1 gene cause neurofibromatosis type 1. The NF1 gene provides instructions for making a protein called neurofibromin. This protein is produced in many cells, including nerve cells and specialized cells surrounding nerves (oligodendrocytes and Schwann cells). Neurofibromin acts as a tumor suppressor, ... | neurofibromatosis type 1 |
Is neurofibromatosis type 1 inherited ? | Neurofibromatosis type 1 is considered to have an autosomal dominant pattern of inheritance. People with this condition are born with one mutated copy of the NF1 gene in each cell. In about half of cases, the altered gene is inherited from an affected parent. The remaining cases result from new mutations in the NF1 gen... | neurofibromatosis type 1 |
What are the treatments for neurofibromatosis type 1 ? | These resources address the diagnosis or management of neurofibromatosis type 1: - Gene Review: Gene Review: Neurofibromatosis 1 - Genetic Testing Registry: Neurofibromatosis, type 1 - MedlinePlus Encyclopedia: Neurofibromatosis-1 These resources from MedlinePlus offer information about the diagnosis and managemen... | neurofibromatosis type 1 |
What is (are) alpha thalassemia ? | Alpha thalassemia is a blood disorder that reduces the production of hemoglobin. Hemoglobin is the protein in red blood cells that carries oxygen to cells throughout the body. In people with the characteristic features of alpha thalassemia, a reduction in the amount of hemoglobin prevents enough oxygen from reaching t... | alpha thalassemia |
How many people are affected by alpha thalassemia ? | Alpha thalassemia is a fairly common blood disorder worldwide. Thousands of infants with Hb Bart syndrome and HbH disease are born each year, particularly in Southeast Asia. Alpha thalassemia also occurs frequently in people from Mediterranean countries, North Africa, the Middle East, India, and Central Asia. | alpha thalassemia |
What are the genetic changes related to alpha thalassemia ? | Alpha thalassemia typically results from deletions involving the HBA1 and HBA2 genes. Both of these genes provide instructions for making a protein called alpha-globin, which is a component (subunit) of hemoglobin. People have two copies of the HBA1 gene and two copies of the HBA2 gene in each cell. Each copy is calle... | alpha thalassemia |
Is alpha thalassemia inherited ? | The inheritance of alpha thalassemia is complex. Each person inherits two alpha-globin alleles from each parent. If both parents are missing at least one alpha-globin allele, their children are at risk of having Hb Bart syndrome, HbH disease, or alpha thalassemia trait. The precise risk depends on how many alleles are ... | alpha thalassemia |
What are the treatments for alpha thalassemia ? | These resources address the diagnosis or management of alpha thalassemia: - Gene Review: Gene Review: Alpha-Thalassemia - Genetic Testing Registry: alpha Thalassemia - MedlinePlus Encyclopedia: Thalassemia - University of California, San Francisco Fetal Treatment Center: Stem Cell Treatments These resources from ... | alpha thalassemia |
What is (are) Langerhans cell histiocytosis ? | Langerhans cell histiocytosis is a disorder in which excess immune system cells called Langerhans cells build up in the body. Langerhans cells, which help regulate the immune system, are normally found throughout the body, especially in the skin, lymph nodes, spleen, lungs, liver, and bone marrow. In Langerhans cell hi... | Langerhans cell histiocytosis |
How many people are affected by Langerhans cell histiocytosis ? | Langerhans cell histiocytosis is a rare disorder. Its prevalence is estimated at 1 to 2 in 100,000 people. | Langerhans cell histiocytosis |
What are the genetic changes related to Langerhans cell histiocytosis ? | Somatic mutations in the BRAF gene have been identified in the Langerhans cells of about half of individuals with Langerhans cell histiocytosis. Somatic gene mutations are acquired during a person's lifetime and are present only in certain cells. These changes are not inherited. The BRAF gene provides instructions for... | Langerhans cell histiocytosis |
Is Langerhans cell histiocytosis inherited ? | Langerhans cell histiocytosis is usually not inherited and typically occurs in people with no history of the disorder in their family. A few families with multiple cases of Langerhans cell histiocytosis have been identified, but the inheritance pattern is unknown. | Langerhans cell histiocytosis |
What are the treatments for Langerhans cell histiocytosis ? | These resources address the diagnosis or management of Langerhans cell histiocytosis: - Cincinnati Children's Hospital Medical Center - Cleveland Clinic - Genetic Testing Registry: Langerhans cell histiocytosis, multifocal - National Cancer Institute: Langerhans Cell Histiocytosis Treatment - Seattle Children's Ho... | Langerhans cell histiocytosis |
What is (are) granulomatosis with polyangiitis ? | Granulomatosis with polyangiitis (GPA) is a condition that causes inflammation that primarily affects the respiratory tract (including the lungs and airways) and the kidneys. This disorder is also commonly known as Wegener granulomatosis. A characteristic feature of GPA is inflammation of blood vessels (vasculitis), pa... | granulomatosis with polyangiitis |
How many people are affected by granulomatosis with polyangiitis ? | GPA is a rare disorder that affects an estimated 3 in 100,000 people in the United States. | granulomatosis with polyangiitis |
What are the genetic changes related to granulomatosis with polyangiitis ? | The genetic basis of GPA is not well understood. Having a particular version of the HLA-DPB1 gene is the strongest genetic risk factor for developing this condition, although several other genes, some of which have not been identified, may be involved. It is likely that a combination of genetic and environmental factor... | granulomatosis with polyangiitis |
Is granulomatosis with polyangiitis inherited ? | The inheritance pattern of GPA is unknown. Most instances are sporadic and occur in individuals with no history of the disorder in their family. Only rarely is more than one member of the same family affected by the disorder. | granulomatosis with polyangiitis |
What are the treatments for granulomatosis with polyangiitis ? | These resources address the diagnosis or management of granulomatosis with polyangiitis: - Genetic Testing Registry: Wegener's granulomatosis - Johns Hopkins Vasculitis Center: How is Wegener's Granulomatosis Diagnosed? - MedlinePlus Encyclopedia: Wegener's Granulomatosis - Merck Manual Home Health Edition These ... | granulomatosis with polyangiitis |
What is (are) achondrogenesis ? | Achondrogenesis is a group of severe disorders that affect cartilage and bone development. These conditions are characterized by a small body, short limbs, and other skeletal abnormalities. As a result of serious health problems, infants with achondrogenesis usually die before birth, are stillborn, or die soon after bi... | achondrogenesis |
How many people are affected by achondrogenesis ? | Achondrogenesis types 1A and 1B are rare genetic disorders; their incidence is unknown. Combined, achondrogenesis type 2 and hypochondrogenesis (a similar skeletal disorder) occur in 1 in 40,000 to 60,000 newborns. | achondrogenesis |
What are the genetic changes related to achondrogenesis ? | Mutations in the TRIP11, SLC26A2, and COL2A1 genes cause achondrogenesis type 1A, type 1B, and type 2, respectively. The genetic cause of achondrogenesis type 1A was unknown until recently, when researchers discovered that the condition can result from mutations in the TRIP11 gene. This gene provides instructions for ... | achondrogenesis |
Is achondrogenesis inherited ? | Achondrogenesis type 1A and type 1B both have an autosomal recessive pattern of inheritance, which means both copies of the TRIP11 or SLC26A2 gene in each cell have mutations. Most often, the parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene but do not show signs and... | achondrogenesis |
What are the treatments for achondrogenesis ? | These resources address the diagnosis or management of achondrogenesis: - Gene Review: Gene Review: Achondrogenesis Type 1B - Genetic Testing Registry: Achondrogenesis type 2 - Genetic Testing Registry: Achondrogenesis, type IA - Genetic Testing Registry: Achondrogenesis, type IB - MedlinePlus Encyclopedia: Achond... | achondrogenesis |
What is (are) Andermann syndrome ? | Andermann syndrome is a disorder that damages the nerves used for muscle movement and sensation (motor and sensory neuropathy). Absence (agenesis) or malformation of the tissue connecting the left and right halves of the brain (corpus callosum) also occurs in most people with this disorder. People affected by Anderman... | Andermann syndrome |
How many people are affected by Andermann syndrome ? | Andermann syndrome is most often seen in the French-Canadian population of the Saguenay-Lac-St.-Jean and Charlevoix regions of northeastern Quebec. In this population, Andermann syndrome occurs in almost 1 in 2,000 newborns. Only a few individuals with this disorder have been identified in other regions of the world. | Andermann syndrome |
What are the genetic changes related to Andermann syndrome ? | Mutations in the SLC12A6 gene cause Andermann syndrome. The SLC12A6 gene provides instructions for making a protein called a K-Cl cotransporter. This protein is involved in moving charged atoms (ions) of potassium (K) and chlorine (Cl) across the cell membrane. The positively charged potassium ions and negatively charg... | Andermann syndrome |
Is Andermann 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. | Andermann syndrome |
What are the treatments for Andermann syndrome ? | These resources address the diagnosis or management of Andermann syndrome: - Gene Review: Gene Review: Hereditary Motor and Sensory Neuropathy with Agenesis of the Corpus Callosum - Genetic Testing Registry: Andermann syndrome These resources from MedlinePlus offer information about the diagnosis and management of ... | Andermann syndrome |
What is (are) spondyloepimetaphyseal dysplasia, Strudwick type ? | Spondyloepimetaphyseal dysplasia, Strudwick type is an inherited disorder of bone growth that results in short stature (dwarfism), skeletal abnormalities, and problems with vision. This condition affects the bones of the spine (spondylo-) and two regions (epiphyses and metaphyses) near the ends of long bones in the arm... | spondyloepimetaphyseal dysplasia, Strudwick type |
How many people are affected by spondyloepimetaphyseal dysplasia, Strudwick type ? | This condition is rare; only a few affected individuals have been reported worldwide. | spondyloepimetaphyseal dysplasia, Strudwick type |
What are the genetic changes related to spondyloepimetaphyseal dysplasia, Strudwick type ? | Spondyloepimetaphyseal dysplasia, Strudwick type 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 the clear gel that fills the eyeball (the vitreous) and cartilage... | spondyloepimetaphyseal dysplasia, Strudwick type |
Is spondyloepimetaphyseal dysplasia, Strudwick type 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. | spondyloepimetaphyseal dysplasia, Strudwick type |
What are the treatments for spondyloepimetaphyseal dysplasia, Strudwick type ? | These resources address the diagnosis or management of spondyloepimetaphyseal dysplasia, Strudwick type: - Genetic Testing Registry: Spondyloepimetaphyseal dysplasia Strudwick type - MedlinePlus Encyclopedia: Clubfoot - MedlinePlus Encyclopedia: Retinal Detachment - MedlinePlus Encyclopedia: Scoliosis These resou... | spondyloepimetaphyseal dysplasia, Strudwick type |
What is (are) primary spontaneous pneumothorax ? | Primary spontaneous pneumothorax is an abnormal accumulation of air in the space between the lungs and the chest cavity (called the pleural space) that can result in the partial or complete collapse of a lung. This type of pneumothorax is described as primary because it occurs in the absence of lung disease such as emp... | primary spontaneous pneumothorax |
How many people are affected by primary spontaneous pneumothorax ? | Primary spontaneous pneumothorax is more common in men than in women. This condition occurs in 7.4 to 18 per 100,000 men each year and 1.2 to 6 per 100,000 women each year. | primary spontaneous pneumothorax |
What are the genetic changes related to primary spontaneous pneumothorax ? | Mutations in the FLCN gene can cause primary spontaneous pneumothorax, although these mutations appear to be a very rare cause of this condition. The FLCN gene provides instructions for making a protein called folliculin. In the lungs, folliculin is found in the connective tissue cells that allow the lungs to contract ... | primary spontaneous pneumothorax |
Is primary spontaneous pneumothorax inherited ? | When this condition is caused by mutations in the FLCN 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. In most cases, a person inherits the FLCN gene mutation from an affected parent. People who have an FLCN gene mutation... | primary spontaneous pneumothorax |
What are the treatments for primary spontaneous pneumothorax ? | These resources address the diagnosis or management of primary spontaneous pneumothorax: - Genetic Testing Registry: Pneumothorax, primary spontaneous - MedlinePlus Encyclopedia: Chest Tube Insertion - MedlinePlus Encyclopedia: Collapsed Lung - Merck Manual for Patients and Caregivers These resources from Medline... | primary spontaneous pneumothorax |
What is (are) aniridia ? | Aniridia is an eye disorder characterized by a complete or partial absence of the colored part of the eye (the iris). These iris abnormalities may cause the pupils to be abnormal or misshapen. Aniridia can cause reduction in the sharpness of vision (visual acuity) and increased sensitivity to light (photophobia). Peop... | aniridia |
How many people are affected by aniridia ? | Aniridia occurs in 1 in 50,000 to 100,000 newborns worldwide. | aniridia |
What are the genetic changes related to aniridia ? | Aniridia is caused by mutations in the PAX6 gene. The PAX6 gene provides instructions for making a protein that is involved in the early development of the eyes, brain and spinal cord (central nervous system), and the pancreas. Within the brain, the PAX6 protein is involved in the development of a specialized group of ... | aniridia |
Is aniridia inherited ? | Aniridia 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 approximately two-thirds of cases, an affected person inherits the mutation from one affected parent. The remaining one-third of cases result from new mutations in the g... | aniridia |
What are the treatments for aniridia ? | These resources address the diagnosis or management of aniridia: - Gene Review: Gene Review: Aniridia - Genetic Testing Registry: Congenital aniridia These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and... | aniridia |
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