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<s> [INST] What are the genetic changes related to alpha thalassemia ?[/INST] 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 ... |
<s> [INST] Is alpha thalassemia inherited ?[/INST] 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... |
<s> [INST] What are the treatments for alpha thalassemia ?[/INST] 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 Fe... |
<s> [INST] What is (are) KBG syndrome ?[/INST] KBG syndrome is a rare disorder that affects several body systems. "KBG" represents the surname initials of the first families diagnosed with the disorder. Common signs and symptoms in individuals with this condition include unusual facial features, skeletal abnormalities,... |
<s> [INST] How many people are affected by KBG syndrome ?[/INST] KBG syndrome is a rare disorder that has been reported in around 60 individuals. For unknown reasons, males are affected more often than females. Doctors think the disorder is underdiagnosed because the signs and symptoms can be mild and may be attributed... |
<s> [INST] What are the genetic changes related to KBG syndrome ?[/INST] KBG syndrome is caused by mutations in the ANKRD11 gene. The protein produced from this gene enables other proteins to interact with each other and helps control gene activity. The ANKRD11 protein is found in nerve cells (neurons) in the brain. It... |
<s> [INST] Is KBG syndrome inherited ?[/INST] 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 ... |
<s> [INST] What are the treatments for KBG syndrome ?[/INST] These resources address the diagnosis or management of KBG syndrome: - Genetic Testing Registry: KBG syndrome These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Th... |
<s> [INST] What is (are) Greenberg dysplasia ?[/INST] Greenberg dysplasia is a severe condition characterized by specific bone abnormalities in the developing fetus. This condition is fatal before birth. The bones of affected individuals do not develop properly, causing a distinctive spotted appearance called moth-eat... |
<s> [INST] How many people are affected by Greenberg dysplasia ?[/INST] Greenberg dysplasia is a very rare condition. Approximately ten cases have been reported in the scientific literature.</s> |
<s> [INST] What are the genetic changes related to Greenberg dysplasia ?[/INST] Mutations in the LBR gene cause Greenberg dysplasia. This gene provides instructions for making a protein called the lamin B receptor. One region of this protein, called the sterol reductase domain, plays an important role in the production... |
<s> [INST] Is Greenberg dysplasia inherited ?[/INST] 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 ... |
<s> [INST] What are the treatments for Greenberg dysplasia ?[/INST] These resources address the diagnosis or management of Greenberg dysplasia: - Genetic Testing Registry: Greenberg dysplasia - Lurie Children's Hospital of Chicago: Fetal Skeletal Dysplasia These resources from MedlinePlus offer information about th... |
<s> [INST] What is (are) familial porencephaly ?[/INST] Familial porencephaly is part of a group of conditions called the COL4A1-related disorders. The conditions in this group have a range of signs and symptoms that involve fragile blood vessels. In familial porencephaly, fluid-filled cysts develop in the brain (poren... |
<s> [INST] How many people are affected by familial porencephaly ?[/INST] Familial porencephaly is a rare condition, although the exact prevalence is unknown. At least eight affected families have been described in the scientific literature.</s> |
<s> [INST] What are the genetic changes related to familial porencephaly ?[/INST] Mutations in the COL4A1 gene cause familial porencephaly. The COL4A1 gene provides instructions for making one component of a protein called type IV collagen. Type IV collagen molecules attach to each other to form complex protein network... |
<s> [INST] Is familial porencephaly inherited ?[/INST] 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.</s> |
<s> [INST] What are the treatments for familial porencephaly ?[/INST] These resources address the diagnosis or management of familial porencephaly: - Gene Review: Gene Review: COL4A1-Related Disorders - Genetic Testing Registry: Familial porencephaly These resources from MedlinePlus offer information about the diag... |
<s> [INST] What is (are) psoriatic arthritis ?[/INST] Psoriatic arthritis is a condition involving joint inflammation (arthritis) that usually occurs in combination with a skin disorder called psoriasis. Psoriasis is a chronic inflammatory condition characterized by patches of red, irritated skin that are often covered... |
<s> [INST] How many people are affected by psoriatic arthritis ?[/INST] Psoriatic arthritis affects an estimated 24 in 10,000 people. Between 5 and 10 percent of people with psoriasis develop psoriatic arthritis, according to most estimates. Some studies suggest a figure as high as 30 percent. Psoriasis itself is a co... |
<s> [INST] What are the genetic changes related to psoriatic arthritis ?[/INST] The specific cause of psoriatic arthritis is unknown. Its signs and symptoms result from excessive inflammation in and around the joints. Inflammation occurs when the immune system sends signaling molecules and white blood cells to a site o... |
<s> [INST] Is psoriatic arthritis inherited ?[/INST] This condition has an unknown inheritance pattern. Approximately 40 percent of affected individuals have at least one close family member with psoriasis or psoriatic arthritis.</s> |
<s> [INST] What are the treatments for psoriatic arthritis ?[/INST] These resources address the diagnosis or management of psoriatic arthritis: - American Society for Surgery of the Hand - Genetic Testing Registry: Psoriatic arthritis, susceptibility to - The Johns Hopkins Arthritis Center These resources from Med... |
<s> [INST] What is (are) carbamoyl phosphate synthetase I deficiency ?[/INST] Carbamoyl phosphate synthetase I deficiency is an inherited disorder that causes ammonia to accumulate in the blood (hyperammonemia). Ammonia, which is formed when proteins are broken down in the body, is toxic if the levels become too high. ... |
<s> [INST] How many people are affected by carbamoyl phosphate synthetase I deficiency ?[/INST] Carbamoyl phosphate synthetase I deficiency is a rare disorder; its overall incidence is unknown. Researchers in Japan have estimated that it occurs in 1 in 800,000 newborns in that country.</s> |
<s> [INST] What are the genetic changes related to carbamoyl phosphate synthetase I deficiency ?[/INST] Mutations in the CPS1 gene cause carbamoyl phosphate synthetase I deficiency. The CPS1 gene provides instructions for making the enzyme carbamoyl phosphate synthetase I. This enzyme participates in the urea cycle, wh... |
<s> [INST] Is carbamoyl phosphate synthetase I deficiency inherited ?[/INST] 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 the... |
<s> [INST] What are the treatments for carbamoyl phosphate synthetase I deficiency ?[/INST] These resources address the diagnosis or management of carbamoyl phosphate synthetase I deficiency: - Baby's First Test - Gene Review: Gene Review: Urea Cycle Disorders Overview - Genetic Testing Registry: Congenital hyperamm... |
<s> [INST] What is (are) rheumatoid arthritis ?[/INST] Rheumatoid arthritis is a disease that causes chronic abnormal inflammation, primarily affecting the joints. The most common signs and symptoms are pain, swelling, and stiffness of the joints. Small joints in the hands and feet are involved most often, although lar... |
<s> [INST] How many people are affected by rheumatoid arthritis ?[/INST] Rheumatoid arthritis affects about 1.3 million adults in the United States. Worldwide, it is estimated to occur in up to 1 percent of the population. The disease is two to three times more common in women than in men, which may be related to hormo... |
<s> [INST] What are the genetic changes related to rheumatoid arthritis ?[/INST] Rheumatoid arthritis probably results from a combination of genetic and environmental factors, many of which are unknown. Rheumatoid arthritis is classified as an autoimmune disorder, one of a large group of conditions that occur when the... |
<s> [INST] Is rheumatoid arthritis inherited ?[/INST] The inheritance pattern of rheumatoid arthritis is unclear because many genetic and environmental factors appear to be involved. However, having a close relative with rheumatoid arthritis likely increases a person's risk of developing the condition.</s> |
<s> [INST] What are the treatments for rheumatoid arthritis ?[/INST] These resources address the diagnosis or management of rheumatoid arthritis: - American College of Rheumatology: ACR-Endorsed Criteria for Rheumatic Diseases - American College of Rheumatology: Treatment for Rheumatic Diseases - Genetic Testing Reg... |
<s> [INST] What is (are) generalized arterial calcification of infancy ?[/INST] Generalized arterial calcification of infancy (GACI) is a disorder affecting the circulatory system that becomes apparent before birth or within the first few months of life. It is characterized by abnormal accumulation of the mineral calci... |
<s> [INST] How many people are affected by generalized arterial calcification of infancy ?[/INST] The prevalence of GACI has been estimated to be about 1 in 391,000. At least 200 affected individuals have been described in the medical literature.</s> |
<s> [INST] What are the genetic changes related to generalized arterial calcification of infancy ?[/INST] In about two-thirds of cases, GACI is caused by mutations in the ENPP1 gene. This gene provides instructions for making a protein that helps break down a molecule called adenosine triphosphate (ATP), specifically w... |
<s> [INST] Is generalized arterial calcification of infancy inherited ?[/INST] 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 t... |
<s> [INST] What are the treatments for generalized arterial calcification of infancy ?[/INST] These resources address the diagnosis or management of GACI: - Gene Review: Gene Review: Generalized Arterial Calcification of Infancy - Genetic Testing Registry: Generalized arterial calcification of infancy 2 These resou... |
<s> [INST] What is (are) PPM-X syndrome ?[/INST] PPM-X syndrome is a condition characterized by psychotic disorders (most commonly bipolar disorder), a pattern of movement abnormalities known as parkinsonism, and mild to severe intellectual disability. Other symptoms include increased muscle tone and exaggerated reflex... |
<s> [INST] How many people are affected by PPM-X syndrome ?[/INST] The prevalence of PPM-X syndrome is unknown.</s> |
<s> [INST] What are the genetic changes related to PPM-X syndrome ?[/INST] Mutations in the MECP2 gene cause PPM-X syndrome. The MECP2 gene provides instructions for making a protein called MeCP2 that is critical for normal brain function. Researchers believe that this protein has several functions, including regulatin... |
<s> [INST] Is PPM-X syndrome inherited ?[/INST] More than 99 percent of PPM-X syndrome cases occur in people with no history of the disorder in their family. Many of these cases result from new mutations in the MECP2 gene. A few families with more than one affected family member have been described. These cases helped... |
<s> [INST] What are the treatments for PPM-X syndrome ?[/INST] These resources address the diagnosis or management of PPM-X syndrome: - Cincinnati Children's Hospital: MECP2-Related Disorders - Gene Review: Gene Review: MECP2-Related Disorders These resources from MedlinePlus offer information about the diagnosis a... |
<s> [INST] What is (are) spinocerebellar ataxia type 36 ?[/INST] Spinocerebellar ataxia type 36 (SCA36) is a condition characterized by progressive problems with movement that typically begin in mid-adulthood. People with this condition initially experience problems with coordination and balance (ataxia). Affected indi... |
<s> [INST] How many people are affected by spinocerebellar ataxia type 36 ?[/INST] Approximately 100 individuals with SCA36 have been reported in the scientific literature. Almost all of these individuals have been from two regions: western Japan and the Costa de Morte in Galicia, Spain.</s> |
<s> [INST] What are the genetic changes related to spinocerebellar ataxia type 36 ?[/INST] SCA36 is caused by mutations in the NOP56 gene. The NOP56 gene provides instructions for making a protein called nucleolar protein 56, which is primarily found in the nucleus of nerve cells (neurons), particularly those in the ce... |
<s> [INST] Is spinocerebellar ataxia type 36 inherited ?[/INST] This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In most cases, an affected person has one parent with the condition. In conditions that are caused by... |
<s> [INST] What are the treatments for spinocerebellar ataxia type 36 ?[/INST] These resources address the diagnosis or management of spinocerebellar ataxia type 36: - Ataxia Center at the University of Minnesota: Dominant Spinocerebellar Ataxias - Baylor College of Medicine: Parkinson's Disease Center and Movement D... |
<s> [INST] What is (are) Niemann-Pick disease ?[/INST] Niemann-Pick disease is a condition that affects many body systems. It has a wide range of symptoms that vary in severity. Niemann-Pick disease is divided into four main types: type A, type B, type C1, and type C2. These types are classified on the basis of genetic... |
<s> [INST] How many people are affected by Niemann-Pick disease ?[/INST] Niemann-Pick disease types A and B is estimated to affect 1 in 250,000 individuals. Niemann-Pick disease type A occurs more frequently among individuals of Ashkenazi (eastern and central European) Jewish descent than in the general population. The... |
<s> [INST] What are the genetic changes related to Niemann-Pick disease ?[/INST] Niemann-Pick disease types A and B is caused by mutations in the SMPD1 gene. This gene provides instructions for producing an enzyme called acid sphingomyelinase. This enzyme is found in lysosomes, which are compartments within cells that ... |
<s> [INST] Is Niemann-Pick disease inherited ?[/INST] 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... |
<s> [INST] What are the treatments for Niemann-Pick disease ?[/INST] These resources address the diagnosis or management of Niemann-Pick disease: - Baby's First Test - Gene Review: Gene Review: Acid Sphingomyelinase Deficiency - Gene Review: Gene Review: Niemann-Pick Disease Type C - Genetic Testing Registry: Niema... |
<s> [INST] What is (are) RAPADILINO syndrome ?[/INST] RAPADILINO syndrome is a rare condition that involves many parts of the body. Bone development is especially affected, causing many of the characteristic features of the condition. Most affected individuals have underdevelopment or absence of the bones in the forea... |
<s> [INST] How many people are affected by RAPADILINO syndrome ?[/INST] RAPADILINO syndrome is a rare condition, although its worldwide prevalence is unknown. The condition was first identified in Finland, where it affects an estimated 1 in 75,000 individuals, although it has since been found in other regions.</s> |
<s> [INST] What are the genetic changes related to RAPADILINO syndrome ?[/INST] Mutations in the RECQL4 gene cause RAPADILINO syndrome. This gene provides instructions for making one member of a protein family called RecQ helicases. Helicases are enzymes that bind to DNA and temporarily unwind the two spiral strands (d... |
<s> [INST] Is RAPADILINO syndrome inherited ?[/INST] 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 ... |
<s> [INST] What are the treatments for RAPADILINO syndrome ?[/INST] These resources address the diagnosis or management of RAPADILINO syndrome: - Genetic Testing Registry: Rapadilino syndrome These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagno... |
<s> [INST] What is (are) steatocystoma multiplex ?[/INST] Steatocystoma multiplex is a skin disorder characterized by the development of multiple noncancerous (benign) cysts known as steatocystomas. These growths begin in the skin's sebaceous glands, which normally produce an oily substance called sebum that lubricates... |
<s> [INST] How many people are affected by steatocystoma multiplex ?[/INST] Although the prevalence of steatocystoma multiplex is unknown, it appears to be rare.</s> |
<s> [INST] What are the genetic changes related to steatocystoma multiplex ?[/INST] Steatocystoma multiplex can be caused by mutations in the KRT17 gene. This gene provides instructions for making a protein called keratin 17, which is produced in the nails, the hair follicles, and the skin on the palms of the hands and... |
<s> [INST] Is steatocystoma multiplex inherited ?[/INST] When steatocystoma multiplex is caused by mutations in the KRT17 gene, it is inherited in an autosomal dominant pattern. Autosomal dominant inheritance means one copy of the altered gene in each cell is sufficient to cause the disorder. In most cases, an affected... |
<s> [INST] What are the treatments for steatocystoma multiplex ?[/INST] These resources address the diagnosis or management of steatocystoma multiplex: - Genetic Testing Registry: Steatocystoma multiplex These resources from MedlinePlus offer information about the diagnosis and management of various health condition... |
<s> [INST] What is (are) alpha-mannosidosis ?[/INST] Alpha-mannosidosis is a rare inherited disorder that causes problems in many organs and tissues of the body. Affected individuals may have intellectual disability, distinctive facial features, and skeletal abnormalities. Characteristic facial features can include a l... |
<s> [INST] How many people are affected by alpha-mannosidosis ?[/INST] Alpha-mannosidosis is estimated to occur in approximately 1 in 500,000 people worldwide.</s> |
<s> [INST] What are the genetic changes related to alpha-mannosidosis ?[/INST] Mutations in the MAN2B1 gene cause alpha-mannosidosis. This gene provides instructions for making the enzyme alpha-mannosidase. This enzyme works in the lysosomes, which are compartments that digest and recycle materials in the cell. Within ... |
<s> [INST] Is alpha-mannosidosis inherited ?[/INST] 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 s... |
<s> [INST] What are the treatments for alpha-mannosidosis ?[/INST] These resources address the diagnosis or management of alpha-mannosidosis: - Gene Review: Gene Review: Alpha-Mannosidosis - Genetic Testing Registry: Deficiency of alpha-mannosidase These resources from MedlinePlus offer information about the diagno... |
<s> [INST] What is (are) Freeman-Sheldon syndrome ?[/INST] Freeman-Sheldon syndrome is a condition that primarily affects the face, hands, and feet. People with this disorder have a distinctive facial appearance including a small mouth (microstomia) with pursed lips, giving the appearance of a "whistling face." For thi... |
<s> [INST] How many people are affected by Freeman-Sheldon syndrome ?[/INST] Freeman-Sheldon syndrome is a rare disorder; its exact prevalence is unknown.</s> |
<s> [INST] What are the genetic changes related to Freeman-Sheldon syndrome ?[/INST] Freeman-Sheldon syndrome may be caused by mutations in the MYH3 gene. The MYH3 gene provides instructions for making a protein called embryonic skeletal muscle myosin heavy chain 3. This protein belongs to a group of proteins called my... |
<s> [INST] Is Freeman-Sheldon syndrome inherited ?[/INST] Freeman-Sheldon syndrome can have different inheritance patterns. In some cases, the 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. The condition can also have a... |
<s> [INST] What are the treatments for Freeman-Sheldon syndrome ?[/INST] These resources address the diagnosis or management of Freeman-Sheldon syndrome: - Genetic Testing Registry: Freeman-Sheldon syndrome These resources from MedlinePlus offer information about the diagnosis and management of various health condit... |
<s> [INST] What is (are) severe congenital neutropenia ?[/INST] Severe congenital neutropenia is a condition that causes affected individuals to be prone to recurrent infections. People with this condition have a shortage (deficiency) of neutrophils, a type of white blood cell that plays a role in inflammation and in f... |
<s> [INST] How many people are affected by severe congenital neutropenia ?[/INST] The incidence of severe congenital neutropenia is estimated to be 1 in 200,000 individuals.</s> |
<s> [INST] What are the genetic changes related to severe congenital neutropenia ?[/INST] Severe congenital neutropenia can result from mutations in at least five different genes. These genes play a role in the maturation and function of neutrophils, which are cells produced by the bone marrow. Neutrophils secrete immu... |
<s> [INST] Is severe congenital neutropenia inherited ?[/INST] Most cases of severe congenital neutropenia are classified as sporadic and occur in people with no apparent history of the disorder in their family. Some of these cases are associated with changes in specific genes; however in some cases the cause of the di... |
<s> [INST] What are the treatments for severe congenital neutropenia ?[/INST] These resources address the diagnosis or management of severe congenital neutropenia: - Cincinnati Children's Hospital: The Severe Congenital Neutropenia International Registry - Gene Review: Gene Review: ELANE-Related Neutropenia - Gene R... |
<s> [INST] What is (are) Vohwinkel syndrome ?[/INST] 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 keratose... |
<s> [INST] How many people are affected by Vohwinkel syndrome ?[/INST] Vohwinkel syndrome is a rare disorder; about 50 cases have been reported in the medical literature.</s> |
<s> [INST] What are the genetic changes related to Vohwinkel syndrome ?[/INST] 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 prot... |
<s> [INST] Is Vohwinkel syndrome inherited ?[/INST] 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 muta... |
<s> [INST] What are the treatments for Vohwinkel syndrome ?[/INST] 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 d... |
<s> [INST] What is (are) thanatophoric dysplasia ?[/INST] Thanatophoric dysplasia is a severe skeletal disorder characterized by extremely short limbs and folds of extra (redundant) skin on the arms and legs. Other features of this condition include a narrow chest, short ribs, underdeveloped lungs, and an enlarged head... |
<s> [INST] How many people are affected by thanatophoric dysplasia ?[/INST] This condition occurs in 1 in 20,000 to 50,000 newborns. Type I thanatophoric dysplasia is more common than type II.</s> |
<s> [INST] What are the genetic changes related to thanatophoric dysplasia ?[/INST] Mutations in the FGFR3 gene cause thanatophoric dysplasia. Both types of this condition result from mutations in the FGFR3 gene. This gene provides instructions for making a protein that is involved in the development and maintenance of... |
<s> [INST] Is thanatophoric dysplasia inherited ?[/INST] Thanatophoric dysplasia is considered an autosomal dominant disorder because one mutated copy of the FGFR3 gene in each cell is sufficient to cause the condition. Virtually all cases of thanatophoric dysplasia are caused by new mutations in the FGFR3 gene and occ... |
<s> [INST] What are the treatments for thanatophoric dysplasia ?[/INST] These resources address the diagnosis or management of thanatophoric dysplasia: - Gene Review: Gene Review: Thanatophoric Dysplasia - Genetic Testing Registry: Thanatophoric dysplasia type 1 - Genetic Testing Registry: Thanatophoric dysplasia, t... |
<s> [INST] What is (are) GRACILE syndrome ?[/INST] GRACILE syndrome is a severe disorder that begins before birth. GRACILE stands for the condition's characteristic features: growth retardation, aminoaciduria, cholestasis, iron overload, lactic acidosis, and early death. In GRACILE syndrome, growth before birth is slo... |
<s> [INST] How many people are affected by GRACILE syndrome ?[/INST] GRACILE syndrome is found almost exclusively in Finland, where it is estimated to affect 1 in 47,000 infants. At least 32 affected infants have been described in the medical literature.</s> |
<s> [INST] What are the genetic changes related to GRACILE syndrome ?[/INST] GRACILE syndrome is caused by a mutation in the BCS1L gene. The protein produced from this gene is found in cell structures called mitochondria, which convert the energy from food into a form that cells can use. In mitochondria, the BCS1L prot... |
<s> [INST] Is GRACILE syndrome inherited ?[/INST] 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 sig... |
<s> [INST] What are the treatments for GRACILE syndrome ?[/INST] These resources address the diagnosis or management of GRACILE syndrome: - Genetic Testing Registry: GRACILE syndrome - MedlinePlus Encyclopedia: Aminoaciduria - MedlinePlus Encyclopedia: Cholestasis These resources from MedlinePlus offer information... |
<s> [INST] What is (are) coloboma ?[/INST] Coloboma is an eye abnormality that occurs before birth. Colobomas are missing pieces of tissue in structures that form the eye. They may appear as notches or gaps in one of several parts of the eye, including the colored part of the eye called the iris; the retina, which is t... |
<s> [INST] How many people are affected by coloboma ?[/INST] Coloboma occurs in approximately 1 in 10,000 people. Because coloboma does not always affect vision or the outward appearance of the eye, some people with this condition are likely undiagnosed.</s> |
<s> [INST] What are the genetic changes related to coloboma ?[/INST] Coloboma arises from abnormal development of the eye. During the second month of development before birth, a seam called the optic fissure (also known as the choroidal fissure or embryonic fissure) closes to form the structures of the eye. When the op... |
<s> [INST] Is coloboma inherited ?[/INST] Most often, isolated coloboma is not inherited, and there is only one affected individual in a family. However, the affected individual is still at risk of passing the coloboma on to his or her own children. In cases when it is passed down in families, coloboma can have differ... |
<s> [INST] What are the treatments for coloboma ?[/INST] These resources address the diagnosis or management of coloboma: - Genetic Testing Registry: Congenital ocular coloboma - Genetic Testing Registry: Microphthalmia, isolated, with coloboma 1 - Genetic Testing Registry: Microphthalmia, isolated, with coloboma 2 ... |
<s> [INST] What is (are) Brody myopathy ?[/INST] Brody myopathy is a condition that affects the skeletal muscles, which are the muscles used for movement. Affected individuals experience muscle cramping and stiffening after exercise or other strenuous activity, especially in cold temperatures. These symptoms typically ... |
<s> [INST] How many people are affected by Brody myopathy ?[/INST] Brody myopathy is a rare condition, although its exact prevalence is unknown.</s> |
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