id int64 1 16.4k | Question stringlengths 16 191 | Context stringlengths 6 29k | Topic stringclasses 9
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101 | What is (are) Mabry syndrome ? | Mabry syndrome is a condition characterized by intellectual disability, distinctive facial features, increased levels of an enzyme called alkaline phosphatase in the blood (hyperphosphatasia), and other signs and symptoms. People with Mabry syndrome have intellectual disability that is often moderate to severe. They t... | growth_hormone_receptor | tissue non-specific type |
102 | How many people are affected by Mabry syndrome ? | Mabry syndrome is likely a rare condition, but its prevalence is unknown. More than 20 cases have been described in the scientific literature. | growth_hormone_receptor | More than 20 |
103 | What are the genetic changes related to Mabry syndrome ? | Mutations in the PIGV, PIGO, or PGAP2 gene cause Mabry syndrome. These genes are all involved in the production (synthesis) of a molecule called a glycosylphosphosphatidylinositol (GPI) anchor. This molecule is synthesized in a series of steps. It then attaches (binds) to various proteins and binds them to the outer su... | growth_hormone_receptor | PIGV gene mutations |
104 | Is Mabry 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. | growth_hormone_receptor | This condition is inherited in an autosomal recessive pattern |
105 | What are the treatments for Mabry syndrome ? | These resources address the diagnosis or management of Mabry syndrome: - Genetic Testing Registry: Hyperphosphatasia with mental retardation syndrome - Genetic Testing Registry: Hyperphosphatasia with mental retardation syndrome 1 - Genetic Testing Registry: Hyperphosphatasia with mental retardation syndrome 2 - Ge... | growth_hormone_receptor | Genetic Testing Registry |
106 | What is (are) Lujan syndrome ? | Lujan syndrome is a condition characterized by intellectual disability, behavioral problems, and certain physical features. It occurs almost exclusively in males. The intellectual disability associated with Lujan syndrome is usually mild to moderate. Behavioral problems can include hyperactivity, aggressiveness, extre... | growth_hormone_receptor | a condition characterized by intellectual disability, behavioral problems, and certain physical features |
107 | How many people are affected by Lujan syndrome ? | Lujan syndrome appears to be an uncommon condition, but its prevalence is unknown. | growth_hormone_receptor | unknown |
108 | What are the genetic changes related to Lujan syndrome ? | Lujan syndrome is caused by at least one mutation in the MED12 gene. This gene provides instructions for making a protein that helps regulate gene activity; it is involved in many aspects of early development. The MED12 gene mutation that causes Lujan syndrome changes a single protein building block (amino acid) in the... | growth_hormone_receptor | a single protein building block (amino acid) in the MED12 protein |
109 | Is Lujan syndrome 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... | growth_hormone_receptor | in an X-linked recessive pattern |
110 | What are the treatments for Lujan syndrome ? | These resources address the diagnosis or management of Lujan syndrome: - Gene Review: Gene Review: MED12-Related Disorders - Genetic Testing Registry: X-linked mental retardation with marfanoid habitus syndrome These resources from MedlinePlus offer information about the diagnosis and management of various health c... | growth_hormone_receptor | Surgery and Rehabilitation - Genetic Counseling - Palliative Care |
111 | What is (are) caudal regression syndrome ? | Caudal regression syndrome is a disorder that impairs the development of the lower (caudal) half of the body. Affected areas can include the lower back and limbs, the genitourinary tract, and the gastrointestinal tract. In this disorder, the bones of the lower spine (vertebrae) are frequently misshapen or missing, and... | growth_hormone_receptor | abnormal twisting |
112 | How many people are affected by caudal regression syndrome ? | Caudal regression syndrome is estimated to occur in 1 to 2.5 per 100,000 newborns. This condition is much more common in infants born to mothers with diabetes when it affects an estimated 1 in 350 newborns. | growth_hormone_receptor | 1 in 350 |
113 | What are the genetic changes related to caudal regression syndrome ? | Caudal regression syndrome is a complex condition that may have different causes in different people. The condition is likely caused by the interaction of multiple genetic and environmental factors. One risk factor for the development of caudal regression syndrome is the presence of diabetes in the mother. It is though... | growth_hormone_receptor | abnormal mesoderm development and decreased blood flow |
114 | Is caudal regression syndrome inherited ? | Caudal regression syndrome occurs sporadically, which means it occurs in people with no history of the condition in their family. Multiple genetic and environmental factors likely play a part in determining the risk of developing this condition. | growth_hormone_receptor | sporadically |
115 | What are the treatments for caudal regression syndrome ? | These resources address the diagnosis or management of caudal regression syndrome: - MedlinePlus Encyclopedia: Bladder Exstrophy Repair - MedlinePlus Encyclopedia: Clubfoot - MedlinePlus Encyclopedia: Inguinal Hernia Repair - MedlinePlus Encyclopedia: Neurogenic Bladder These resources from MedlinePlus offer info... | growth_hormone_receptor | Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation |
116 | What is (are) Friedreich ataxia ? | Friedreich ataxia is a genetic condition that affects the nervous system and causes movement problems. People with this condition develop impaired muscle coordination (ataxia) that worsens over time. Other features of this condition include the gradual loss of strength and sensation in the arms and legs, muscle stiffne... | growth_hormone_receptor | a genetic condition that affects the nervous system |
117 | How many people are affected by Friedreich ataxia ? | Friedreich ataxia is estimated to affect 1 in 40,000 people. This condition is found in people with European, Middle Eastern, or North African ancestry. It is rarely identified in other ethnic groups. | growth_hormone_receptor | 1 in 40,000 |
118 | What are the genetic changes related to Friedreich ataxia ? | Mutations in the FXN gene cause Friedreich ataxia. This gene provides instructions for making a protein called frataxin. Although its role is not fully understood, frataxin appears to be important for the normal function of mitochondria, the energy-producing centers within cells. One region of the FXN gene contains a s... | growth_hormone_receptor | characteristic signs and symptoms |
119 | Is Friedreich ataxia 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. | growth_hormone_receptor | This condition is inherited in an autosomal recessive pattern |
120 | What are the treatments for Friedreich ataxia ? | These resources address the diagnosis or management of Friedreich ataxia: - Friedreich's Ataxia Research Alliance: Clinical Care Guidelines - Gene Review: Gene Review: Friedreich Ataxia - Genetic Testing Registry: Friedreich ataxia 1 - MedlinePlus Encyclopedia: Friedreich's Ataxia - MedlinePlus Encyclopedia: Hyper... | growth_hormone_receptor | Diagnostic Tests - Drug Therapy - Surgery |
121 | What is (are) 47,XYY syndrome ? | 47,XYY syndrome is characterized by an extra copy of the Y chromosome in each of a male's cells. Although males with this condition may be taller than average, this chromosomal change typically causes no unusual physical features. Most males with 47,XYY syndrome have normal sexual development and are able to father chi... | growth_hormone_receptor | an extra copy of the Y chromosome in each of a male's cells |
122 | How many people are affected by 47,XYY syndrome ? | This condition occurs in about 1 in 1,000 newborn boys. Five to 10 boys with 47,XYY syndrome are born in the United States each day. | growth_hormone_receptor | Five to 10 |
123 | What are the genetic changes related to 47,XYY syndrome ? | People normally have 46 chromosomes in each cell. Two of the 46 chromosomes, known as X and Y, are called sex chromosomes because they help determine whether a person will develop male or female sex characteristics. Females typically have two X chromosomes (46,XX), and males have one X chromosome and one Y chromosome (... | growth_hormone_receptor | the presence of an extra copy of the Y chromosome |
124 | Is 47,XYY syndrome inherited ? | Most cases of 47,XYY syndrome are not inherited. The chromosomal change usually occurs as a random event during the formation of sperm cells. An error in cell division called nondisjunction can result in sperm cells with an extra copy of the Y chromosome. If one of these atypical reproductive cells contributes to the g... | growth_hormone_receptor | not inherited |
125 | What are the treatments for 47,XYY syndrome ? | These resources address the diagnosis or management of 47,XYY syndrome: - Association for X and Y Chromosome Variations: Tell Me About 47,XYY - Genetic Testing Registry: Double Y syndrome These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnosti... | growth_hormone_receptor | Association for X and Y Chromosome Variations |
126 | What is (are) 2-methylbutyryl-CoA dehydrogenase deficiency ? | 2-methylbutyryl-CoA dehydrogenase deficiency is a type of organic acid disorder in which the body is unable to process proteins properly. Organic acid disorders lead to an abnormal buildup of particular acids known as organic acids. Abnormal levels of organic acids in the blood (organic acidemia), urine (organic acidur... | growth_hormone_receptor | asymptomatic |
127 | How many people are affected by 2-methylbutyryl-CoA dehydrogenase deficiency ? | 2-methylbutyryl-CoA dehydrogenase deficiency is a rare disorder; its actual incidence is unknown. This disorder is more common, however, among Hmong populations in southeast Asia and in Hmong Americans. 2-methylbutyryl-CoA dehydrogenase deficiency occurs in 1 in 250 to 1 in 500 people of Hmong ancestry. | growth_hormone_receptor | 1 in 250 to 1 in 500 |
128 | What are the genetic changes related to 2-methylbutyryl-CoA dehydrogenase deficiency ? | Mutations in the ACADSB gene cause 2-methylbutyryl-CoA dehydrogenase deficiency. The ACADSB gene provides instructions for making an enzyme called 2-methylbutyryl-CoA dehydrogenase that helps process the amino acid isoleucine. Mutations in the ACADSB gene reduce or eliminate the activity of this enzyme. With a shortag... | growth_hormone_receptor | Mutations in the ACADSB gene |
129 | Is 2-methylbutyryl-CoA dehydrogenase deficiency inherited ? | This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. | growth_hormone_receptor | This condition is inherited in an autosomal recessive pattern |
130 | What are the treatments for 2-methylbutyryl-CoA dehydrogenase deficiency ? | These resources address the diagnosis or management of 2-methylbutyryl-CoA dehydrogenase deficiency: - Baby's First Test - Genetic Testing Registry: Deficiency of 2-methylbutyryl-CoA dehydrogenase These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - ... | growth_hormone_receptor | Baby's First Test - Genetic Testing Registry |
131 | 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... | growth_hormone_receptor | a seizure disorder |
132 | 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. | growth_hormone_receptor | 1 to 1.6 in 100,000 |
133 | 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... | growth_hormone_receptor | mutations in either the ARX gene or the CDKL5 gene |
134 | 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... | growth_hormone_receptor | fathers cannot pass X-linked traits to their sons |
135 | 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... | growth_hormone_receptor | Child Neurology Foundation - Genetic Testing Registry |
136 | What is (are) Wolff-Parkinson-White syndrome ? | Wolff-Parkinson-White syndrome is a condition characterized by abnormal electrical pathways in the heart that cause a disruption of the heart's normal rhythm (arrhythmia). The heartbeat is controlled by electrical signals that move through the heart in a highly coordinated way. A specialized cluster of cells called th... | growth_hormone_receptor | paroxysmal supraventricular tachycardia |
137 | How many people are affected by Wolff-Parkinson-White syndrome ? | Wolff-Parkinson-White syndrome affects 1 to 3 in 1,000 people worldwide. Only a small fraction of these cases appear to run in families. Wolff-Parkinson-White syndrome is a common cause of an arrhythmia known as paroxysmal supraventricular tachycardia. Wolff-Parkinson-White syndrome is the most frequent cause of this ... | growth_hormone_receptor | 1 to 3 in 1,000 |
138 | What are the genetic changes related to Wolff-Parkinson-White syndrome ? | Mutations in the PRKAG2 gene cause Wolff-Parkinson-White syndrome. A small percentage of all cases of Wolff-Parkinson-White syndrome are caused by mutations in the PRKAG2 gene. Some people with these mutations also have features of hypertrophic cardiomyopathy, a form of heart disease that enlarges and weakens the hear... | growth_hormone_receptor | heart abnormalities |
139 | Is Wolff-Parkinson-White syndrome inherited ? | Most cases of Wolff-Parkinson-White syndrome occur in people with no apparent family history of the condition. These cases are described as sporadic and are not inherited. Familial Wolff-Parkinson-White syndrome accounts for only a small percentage of all cases of this condition. The familial form of the disorder typi... | growth_hormone_receptor | not inherited |
140 | What are the treatments for Wolff-Parkinson-White syndrome ? | These resources address the diagnosis or management of Wolff-Parkinson-White syndrome: - Genetic Testing Registry: Wolff-Parkinson-White pattern - MedlinePlus Encyclopedia: Wolff-Parkinson-White syndrome These resources from MedlinePlus offer information about the diagnosis and management of various health conditio... | growth_hormone_receptor | Surgery and Rehabilitation - Genetic Counseling - Palliative Care |
141 | What is (are) Greig cephalopolysyndactyly syndrome ? | Greig cephalopolysyndactyly syndrome is a disorder that affects development of the limbs, head, and face. The features of this syndrome are highly variable, ranging from very mild to severe. People with this condition typically have one or more extra fingers or toes (polydactyly) or an abnormally wide thumb or big toe ... | growth_hormone_receptor | a disorder that affects development of the limbs, head, and face |
142 | How many people are affected by Greig cephalopolysyndactyly syndrome ? | This condition is very rare; its prevalence is unknown. | growth_hormone_receptor | rare |
143 | What are the genetic changes related to Greig cephalopolysyndactyly syndrome ? | Mutations in the GLI3 gene cause Greig cephalopolysyndactyly syndrome. The GLI3 gene provides instructions for making a protein that controls gene expression, which is a process that regulates whether genes are turned on or off in particular cells. By interacting with certain genes at specific times during development,... | growth_hormone_receptor | GLI3 gene |
144 | Is Greig cephalopolysyndactyly syndrome inherited ? | This condition is inherited in an autosomal dominant pattern, which means one altered or missing copy of the GLI3 gene in each cell is sufficient to cause the disorder. In some cases, an affected person inherits a gene mutation or chromosomal abnormality from one affected parent. Other cases occur in people with no his... | growth_hormone_receptor | This condition is inherited in an autosomal dominant pattern |
145 | What are the treatments for Greig cephalopolysyndactyly syndrome ? | These resources address the diagnosis or management of Greig cephalopolysyndactyly syndrome: - Gene Review: Gene Review: Greig Cephalopolysyndactyly Syndrome - Genetic Testing Registry: Greig cephalopolysyndactyly syndrome - MedlinePlus Encyclopedia: Polydactyly - MedlinePlus Encyclopedia: Syndactyly (image) Thes... | growth_hormone_receptor | Diagnostic Tests - Drug Therapy - Surgery |
146 | What is (are) globozoospermia ? | Globozoospermia is a condition that affects only males. It is characterized by abnormal sperm and leads to an inability to father biological children (infertility). Normal sperm cells have an oval-shaped head with a cap-like covering called the acrosome. The acrosome contains enzymes that break down the outer membrane... | growth_hormone_receptor | a condition that affects only males |
147 | How many people are affected by globozoospermia ? | Globozoospermia is a rare condition that is estimated to affect 1 in 65,000 men. It is most common in North Africa, where it accounts for approximately 1 in 100 cases of male infertility. | growth_hormone_receptor | 1 in 65,000 |
148 | What are the genetic changes related to globozoospermia ? | Globozoospermia is most commonly caused by mutations in the DPY19L2 gene, which are found in about 70 percent of men with this condition. Mutations in other genes likely also cause globozoospermia. The DPY19L2 gene provides instructions for making a protein that is found in developing sperm cells. The DPY19L2 protein ... | growth_hormone_receptor | Mutations in other genes |
149 | Is globozoospermia 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. | growth_hormone_receptor | This condition is inherited in an autosomal recessive pattern |
150 | What are the treatments for globozoospermia ? | These resources address the diagnosis or management of globozoospermia: - Association for Reproductive Medicine: Semen Analysis - Centers for Disease Control: Assisted Reproductive Technology (ART) - Genetic Testing Registry: Globozoospermia - MedlinePlus Encyclopedia: Semen Analysis - MedlinePlus Health Topic: As... | growth_hormone_receptor | diagnosis or management |
151 | What is (are) Zellweger spectrum disorder ? | Zellweger spectrum disorder is a group of conditions that have overlapping signs and symptoms and affect many parts of the body. This group of conditions includes Zellweger syndrome, neonatal adrenoleukodystrophy (NALD), and infantile Refsum disease. These conditions were once thought to be distinct disorders but are n... | growth_hormone_receptor | a group of conditions that have overlapping signs and symptoms |
152 | How many people are affected by Zellweger spectrum disorder ? | Zellweger spectrum disorder is estimated to occur in 1 in 50,000 individuals. | growth_hormone_receptor | 1 in 50,000 |
153 | What are the genetic changes related to Zellweger spectrum disorder ? | Mutations in at least 12 genes have been found to cause Zellweger spectrum disorder. These genes provide instructions for making a group of proteins known as peroxins, which are essential for the formation and normal functioning of cell structures called peroxisomes. Peroxisomes are sac-like compartments that contain e... | growth_hormone_receptor | each account for a smaller percentage of cases of this condition |
154 | Is Zellweger spectrum disorder 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. | growth_hormone_receptor | autosomal recessive pattern |
155 | What are the treatments for Zellweger spectrum disorder ? | These resources address the diagnosis or management of Zellweger spectrum disorder: - Gene Review: Gene Review: Peroxisome Biogenesis Disorders, Zellweger Syndrome Spectrum - Genetic Testing Registry: Infantile Refsum's disease - Genetic Testing Registry: Neonatal adrenoleucodystrophy - Genetic Testing Registry: Pe... | growth_hormone_receptor | Peroxisome Biogenesis Disorders |
156 | What is (are) fish-eye disease ? | Fish-eye disease, also called partial LCAT deficiency, is a disorder that causes the clear front surface of the eyes (the corneas) to gradually become cloudy. The cloudiness, which generally first appears in adolescence or early adulthood, consists of small grayish dots of cholesterol (opacities) distributed across the... | growth_hormone_receptor | partial LCAT deficiency |
157 | How many people are affected by fish-eye disease ? | Fish-eye disease is a rare disorder. Approximately 30 cases have been reported in the medical literature. | growth_hormone_receptor | 30 |
158 | What are the genetic changes related to fish-eye disease ? | Fish-eye disease is caused by mutations in the LCAT gene. This gene provides instructions for making an enzyme called lecithin-cholesterol acyltransferase (LCAT). The LCAT enzyme plays a role in removing cholesterol from the blood and tissues by helping it attach to molecules called lipoproteins, which carry it to the... | growth_hormone_receptor | LCAT gene |
159 | Is fish-eye 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. | growth_hormone_receptor | This condition is inherited in an autosomal recessive pattern |
160 | What are the treatments for fish-eye disease ? | These resources address the diagnosis or management of fish-eye disease: - Genetic Testing Registry: Fish-eye disease - MedlinePlus Encyclopedia: Corneal Transplant - Oregon Health and Science University: Corneal Dystrophy These resources from MedlinePlus offer information about the diagnosis and management of var... | growth_hormone_receptor | Genetic Testing Registry |
161 | What is (are) familial paroxysmal kinesigenic dyskinesia ? | Familial paroxysmal kinesigenic dyskinesia is a disorder characterized by episodes of abnormal movement that range from mild to severe. In the condition name, the word paroxysmal indicates that the abnormal movements come and go over time, kinesigenic means that episodes are triggered by movement, and dyskinesia refers... | growth_hormone_receptor | a pattern of symptoms called an aura |
162 | How many people are affected by familial paroxysmal kinesigenic dyskinesia ? | Familial paroxysmal kinesigenic dyskinesia is estimated to occur in 1 in 150,000 individuals. For unknown reasons, this condition affects more males than females. | growth_hormone_receptor | 1 in 150,000 |
163 | What are the genetic changes related to familial paroxysmal kinesigenic dyskinesia ? | Familial paroxysmal kinesigenic dyskinesia can be caused by mutations in the PRRT2 gene. The function of the protein produced from this gene is unknown, although it is thought to be involved in the development and function of the brain. Studies suggest that the PRRT2 protein interacts with a protein that helps control ... | growth_hormone_receptor | movement problems |
164 | Is familial paroxysmal kinesigenic dyskinesia inherited ? | This condition is inherited in an autosomal dominant pattern. Autosomal dominant inheritance means that one copy of an altered gene in each cell is sufficient to cause the disorder. In most cases, an affected person has one parent with the condition. | growth_hormone_receptor | in an autosomal dominant pattern |
165 | What are the treatments for familial paroxysmal kinesigenic dyskinesia ? | These resources address the diagnosis or management of familial paroxysmal kinesigenic dyskinesia: - Gene Review: Gene Review: Familial Paroxysmal Kinesigenic Dyskinesia - Genetic Testing Registry: Dystonia 10 These resources from MedlinePlus offer information about the diagnosis and management of various health co... | growth_hormone_receptor | Surgery and Rehabilitation - Genetic Counseling - Palliative Care |
166 | What is (are) giant axonal neuropathy ? | Giant axonal neuropathy is an inherited condition involving dysfunction of a specific type of protein in nerve cells (neurons). The protein is essential for normal nerve function because it forms neurofilaments. Neurofilaments make up a structural framework that helps to define the shape and size of the neurons. This c... | growth_hormone_receptor | inherited condition involving dysfunction of a specific type of protein in nerve cells |
167 | How many people are affected by giant axonal neuropathy ? | Giant axonal neuropathy is a very rare disorder; the incidence is unknown. | growth_hormone_receptor | unknown |
168 | What are the genetic changes related to giant axonal neuropathy ? | Giant axonal neuropathy is caused by mutations in the GAN gene, which provides instructions for making a protein called gigaxonin. Some GAN gene mutations change the shape of the protein, affecting how it binds to other proteins to form a functional complex. Other mutations prevent cells from producing any gigaxonin pr... | growth_hormone_receptor | mutations in the GAN gene |
169 | Is giant axonal neuropathy 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. | growth_hormone_receptor | This condition is inherited in an autosomal recessive pattern |
170 | What are the treatments for giant axonal neuropathy ? | These resources address the diagnosis or management of giant axonal neuropathy: - Gene Review: Gene Review: Giant Axonal Neuropathy - Genetic Testing Registry: Giant axonal neuropathy These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Te... | growth_hormone_receptor | Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation |
171 | What is (are) familial osteochondritis dissecans ? | Familial osteochondritis dissecans is a condition that affects the joints and is associated with abnormal cartilage. Cartilage is a tough but flexible tissue that covers the ends of the bones at joints and is also part of the developing skeleton. A characteristic feature of familial osteochondritis dissecans is areas o... | growth_hormone_receptor | a condition that affects the joints |
172 | How many people are affected by familial osteochondritis dissecans ? | Familial osteochondritis dissecans is a rare condition, although the prevalence is unknown. Sporadic osteochondritis dissecans is more common; it is estimated to occur in the knee in 15 to 29 per 100,000 individuals. | growth_hormone_receptor | 15 to 29 per 100,000 |
173 | What are the genetic changes related to familial osteochondritis dissecans ? | Mutation of the ACAN gene can cause familial osteochondritis dissecans. The ACAN gene provides instructions for making the aggrecan protein, which is a component of cartilage. Aggrecan attaches to the other components of cartilage, organizing the network of molecules that gives cartilage its strength. In addition, aggr... | growth_hormone_receptor | not caused by genetic changes and is not inherited |
174 | Is familial osteochondritis dissecans inherited ? | This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In most cases, an affected person has one parent with the condition. | growth_hormone_receptor | This condition is inherited in an autosomal dominant pattern |
175 | What are the treatments for familial osteochondritis dissecans ? | These resources address the diagnosis or management of familial osteochondritis dissecans: - Cedars-Sinai - Genetic Testing Registry: Osteochondritis dissecans - Seattle Children's: Osteochondritis Dissecans Symptoms and Diagnosis These resources from MedlinePlus offer information about the diagnosis and managemen... | growth_hormone_receptor | Symptoms and Diagnosis |
176 | What is (are) Ghosal hematodiaphyseal dysplasia ? | Ghosal hematodiaphyseal dysplasia is a rare inherited condition characterized by abnormally thick bones and a shortage of red blood cells (anemia). Signs and symptoms of the condition become apparent in early childhood. In affected individuals, the long bones in the arms and legs are unusually dense and wide. The bone... | growth_hormone_receptor | a rare inherited condition |
177 | How many people are affected by Ghosal hematodiaphyseal dysplasia ? | Ghosal hematodiaphyseal dysplasia is a rare disorder; only a few cases have been reported in the medical literature. Most affected individuals have been from the Middle East and India. | growth_hormone_receptor | Most affected individuals have been from the Middle East and India |
178 | What are the genetic changes related to Ghosal hematodiaphyseal dysplasia ? | Ghosal hematodiaphyseal dysplasia results from mutations in the TBXAS1 gene. This gene provides instructions for making an enzyme called thromboxane A synthase 1, which acts as part of a chemical signaling pathway involved in normal blood clotting (hemostasis). Based on its role in Ghosal hematodiaphyseal dysplasia, re... | growth_hormone_receptor | mutations in the TBXAS1 gene |
179 | Is Ghosal hematodiaphyseal dysplasia inherited ? | This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. | growth_hormone_receptor | This condition is inherited in an autosomal recessive pattern |
180 | What are the treatments for Ghosal hematodiaphyseal dysplasia ? | These resources address the diagnosis or management of Ghosal hematodiaphyseal dysplasia: - Genetic Testing Registry: Ghosal syndrome - National Heart, Lung, and Blood Institute: How is Anemia Diagnosed? - National Heart, Lung, and Blood Institute: How is Anemia Treated? These resources from MedlinePlus offer info... | growth_hormone_receptor | National Heart, Lung, and Blood Institute |
181 | What is (are) Glanzmann thrombasthenia ? | Glanzmann thrombasthenia is a bleeding disorder that is characterized by prolonged or spontaneous bleeding starting from birth. People with Glanzmann thrombasthenia tend to bruise easily, have frequent nosebleeds (epistaxis), and may bleed from the gums. They may also develop red or purple spots on the skin caused by b... | growth_hormone_receptor | a bleeding disorder |
182 | How many people are affected by Glanzmann thrombasthenia ? | Glanzmann thrombasthenia is estimated to affect 1 in one million individuals worldwide, but may be more common in certain groups, including those of Romani ethnicity, particularly people within the French Manouche community. | growth_hormone_receptor | 1 in one million |
183 | What are the genetic changes related to Glanzmann thrombasthenia ? | Mutations in the ITGA2B or ITGB3 gene cause Glanzmann thrombasthenia. These genes provide instructions for making the two parts (subunits) of a receptor protein called integrin alphaIIb/beta3 (IIb3). This protein is abundant on the surface of platelets. Platelets are small cell fragments that circulate in blood and are... | growth_hormone_receptor | do not have an identified mutation |
184 | Is Glanzmann thrombasthenia 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. | growth_hormone_receptor | This condition is inherited in an autosomal recessive pattern |
185 | What are the treatments for Glanzmann thrombasthenia ? | These resources address the diagnosis or management of Glanzmann thrombasthenia: - CLIMB Glanzmann Thrombasthenia Info Sheet - Canadian Hemophilia Society: Glanzmann Thrombasthenia Information Booklet - Genetic Testing Registry: Glanzmann's thrombasthenia - MedlinePlus Encyclopedia: Glanzmann's Disease These reso... | growth_hormone_receptor | diagnosis or management |
186 | What is (are) fibronectin glomerulopathy ? | Fibronectin glomerulopathy is a kidney disease that usually develops between early and mid-adulthood but can occur at any age. It eventually leads to irreversible kidney failure (end-stage renal disease). Individuals with fibronectin glomerulopathy usually have blood and excess protein in their urine (hematuria and pr... | growth_hormone_receptor | a kidney disease |
187 | How many people are affected by fibronectin glomerulopathy ? | Fibronectin glomerulopathy is likely a rare condition, although its prevalence is unknown. At least 45 cases have been described in the scientific literature. | growth_hormone_receptor | At least 45 |
188 | What are the genetic changes related to fibronectin glomerulopathy ? | Fibronectin glomerulopathy can be caused by mutations in the FN1 gene. The FN1 gene provides instructions for making the fibronectin-1 protein. Fibronectin-1 is involved in the continual formation of the extracellular matrix, which is an intricate lattice of proteins and other molecules that forms in the spaces between... | growth_hormone_receptor | mutations in the FN1 gene |
189 | Is fibronectin glomerulopathy inherited ? | When fibronectin glomerulopathy is caused by mutations in the FN1 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 some of these cases, an affected person inherits the mutation from one affected parent. Other cases resu... | growth_hormone_receptor | it is inherited in an autosomal dominant pattern |
190 | What are the treatments for fibronectin glomerulopathy ? | These resources address the diagnosis or management of fibronectin glomerulopathy: - Genetic Testing Registry: Glomerulopathy with fibronectin deposits 2 - MedlinePlus Encyclopedia: Protein Urine Test These resources from MedlinePlus offer information about the diagnosis and management of various health conditions:... | growth_hormone_receptor | Genetic Testing Registry |
191 | What is (are) ZAP70-related severe combined immunodeficiency ? | ZAP70-related severe combined immunodeficiency (SCID) is an inherited disorder that damages the immune system. ZAP70-related SCID is one of several forms of severe combined immunodeficiency, a group of disorders with several genetic causes. Children with SCID lack virtually all immune protection from bacteria, viruses,... | growth_hormone_receptor | an inherited disorder that damages the immune system |
192 | How many people are affected by ZAP70-related severe combined immunodeficiency ? | ZAP70-related SCID is a rare disorder. Only about 20 affected individuals have been identified. The prevalence of SCID from all genetic causes combined is approximately 1 in 50,000. | growth_hormone_receptor | 20 |
193 | What are the genetic changes related to ZAP70-related severe combined immunodeficiency ? | As the name indicates, this condition is caused by mutations in the ZAP70 gene. The ZAP70 gene provides instructions for making a protein called zeta-chain-associated protein kinase. This protein is part of a signaling pathway that directs the development of and turns on (activates) immune system cells called T cells. ... | growth_hormone_receptor | The resulting shortage of active T cells |
194 | Is ZAP70-related severe combined immunodeficiency 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. | growth_hormone_receptor | autosomal recessive pattern |
195 | What are the treatments for ZAP70-related severe combined immunodeficiency ? | These resources address the diagnosis or management of ZAP70-related severe combined immunodeficiency: - Baby's First Test: Severe Combined Immunodeficiency - Gene Review: Gene Review: ZAP70-Related Severe Combined Immunodeficiency - Genetic Testing Registry: Severe combined immunodeficiency, atypical These resour... | growth_hormone_receptor | Rehabilitation - Genetic Counseling - Palliative Care |
196 | What is (are) Wolf-Hirschhorn syndrome ? | Wolf-Hirschhorn syndrome is a condition that affects many parts of the body. The major features of this disorder include a characteristic facial appearance, delayed growth and development, intellectual disability, and seizures. Almost everyone with this disorder has distinctive facial features, including a broad, flat... | growth_hormone_receptor | a condition that affects many parts of the body |
197 | How many people are affected by Wolf-Hirschhorn syndrome ? | The prevalence of Wolf-Hirschhorn syndrome is estimated to be 1 in 50,000 births. However, this may be an underestimate because it is likely that some affected individuals are never diagnosed. For unknown reasons, Wolf-Hirschhorn syndrome occurs in about twice as many females as males. | growth_hormone_receptor | 1 in 50,000 |
198 | What are the genetic changes related to Wolf-Hirschhorn syndrome ? | Wolf-Hirschhorn syndrome is caused by a deletion of genetic material near the end of the short (p) arm of chromosome 4. This chromosomal change is sometimes written as 4p-. The size of the deletion varies among affected individuals; studies suggest that larger deletions tend to result in more severe intellectual disabi... | growth_hormone_receptor | loss of multiple genes |
199 | Is Wolf-Hirschhorn syndrome inherited ? | Between 85 and 90 percent of all cases of Wolf-Hirschhorn syndrome are not inherited. They result from a chromosomal deletion that occurs as a random (de novo) event during the formation of reproductive cells (eggs or sperm) or in early embryonic development. More complex chromosomal rearrangements can also occur as de... | growth_hormone_receptor | not inherited |
200 | What are the treatments for Wolf-Hirschhorn syndrome ? | These resources address the diagnosis or management of Wolf-Hirschhorn syndrome: - Gene Review: Gene Review: Wolf-Hirschhorn Syndrome - Genetic Testing Registry: 4p partial monosomy syndrome - MedlinePlus Encyclopedia: Epilepsy These resources from MedlinePlus offer information about the diagnosis and management o... | growth_hormone_receptor | Surgery and Rehabilitation - Genetic Counseling - Palliative Care |
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