id int64 1 16.4k | Question stringlengths 16 191 | Context stringlengths 6 29k | Topic stringclasses 9
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701 | What is (are) otopalatodigital syndrome type 1 ? | Otopalatodigital syndrome type 1 is a disorder primarily involving abnormalities in skeletal development. It is a member of a group of related conditions called otopalatodigital spectrum disorders, which also includes otopalatodigital syndrome type 2, frontometaphyseal dysplasia, and Melnick-Needles syndrome. In genera... | growth_hormone_receptor | a disorder primarily involving abnormalities in skeletal development |
702 | How many people are affected by otopalatodigital syndrome type 1 ? | Otopalatodigital syndrome type 1 is a rare disorder, affecting fewer than 1 in every 100,000 individuals. Its specific incidence is unknown. | growth_hormone_receptor | fewer than 1 in every 100,000 |
703 | What are the genetic changes related to otopalatodigital syndrome type 1 ? | Mutations in the FLNA gene cause otopalatodigital syndrome type 1. The FLNA gene provides instructions for producing the protein filamin A, which helps build the network of protein filaments (cytoskeleton) that gives structure to cells and allows them to change shape and move. Filamin A binds to another protein called... | growth_hormone_receptor | specific signs and symptoms |
704 | Is otopalatodigital syndrome type 1 inherited ? | This condition is inherited in an X-linked dominant 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 is sufficient to cause the disorder. In male... | growth_hormone_receptor | This condition is inherited in an X-linked dominant pattern |
705 | What are the treatments for otopalatodigital syndrome type 1 ? | These resources address the diagnosis or management of otopalatodigital syndrome type 1: - Gene Review: Gene Review: Otopalatodigital Spectrum Disorders - Genetic Testing Registry: Oto-palato-digital syndrome, type I These resources from MedlinePlus offer information about the diagnosis and management of various he... | growth_hormone_receptor | Surgery and Rehabilitation - Genetic Counseling - Palliative Care |
706 | What is (are) Ohdo syndrome, Say-Barber-Biesecker-Young-Simpson variant ? | The Say-Barber-Biesecker-Young-Simpson (SBBYS) variant of Ohdo syndrome is a rare condition characterized by genital abnormalities in males, missing or underdeveloped kneecaps (patellae), intellectual disability, distinctive facial features, and abnormalities affecting other parts of the body. Males with the SBBYS var... | growth_hormone_receptor | a mask-like, non-expressive face |
707 | How many people are affected by Ohdo syndrome, Say-Barber-Biesecker-Young-Simpson variant ? | The SBBYS variant of Ohdo syndrome is estimated to occur in fewer than 1 per million people. At least 19 cases have been reported in the medical literature. | growth_hormone_receptor | fewer than 1 per million |
708 | What are the genetic changes related to Ohdo syndrome, Say-Barber-Biesecker-Young-Simpson variant ? | The SBBYS variant of Ohdo syndrome is caused by mutations in the KAT6B gene. This gene provides instructions for making a type of enzyme called a histone acetyltransferase. These enzymes modify histones, which are structural proteins that attach (bind) to DNA and give chromosomes their shape. By adding a small molecule... | growth_hormone_receptor | unclear how these changes lead to the specific features of the condition. |
709 | Is Ohdo syndrome, Say-Barber-Biesecker-Young-Simpson variant inherited ? | This condition has an autosomal dominant inheritance pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. Almost all reported cases have resulted from new mutations in the gene and have occurred in people with no history of the disorder in their family. | growth_hormone_receptor | This condition has an autosomal dominant inheritance pattern |
710 | What are the treatments for Ohdo syndrome, Say-Barber-Biesecker-Young-Simpson variant ? | These resources address the diagnosis or management of Ohdo syndrome, SBBYS variant: - Gene Review: Gene Review: KAT6B-Related Disorders - Genetic Testing Registry: Young Simpson syndrome These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnosti... | growth_hormone_receptor | Surgery and Rehabilitation - Genetic Counseling - Palliative Care |
711 | What is (are) trichothiodystrophy ? | Trichothiodystrophy, which is commonly called TTD, is a rare inherited condition that affects many parts of the body. The hallmark of this condition is brittle hair that is sparse and easily broken. Tests show that the hair is lacking sulfur, an element that normally gives hair its strength. The signs and symptoms of ... | growth_hormone_receptor | a rare inherited condition that affects many parts of the body |
712 | How many people are affected by trichothiodystrophy ? | Trichothiodystrophy has an estimated incidence of about 1 in 1 million newborns in the United States and Europe. About 100 affected individuals have been reported worldwide. | growth_hormone_receptor | 100 |
713 | What are the genetic changes related to trichothiodystrophy ? | Most cases of the photosensitive form of trichothiodystrophy result from mutations in one of three genes: ERCC2, ERCC3, or GTF2H5. The proteins produced from these genes work together as part of a group of proteins called the general transcription factor IIH (TFIIH) complex. This complex is involved in the repair of DN... | growth_hormone_receptor | unknown |
714 | Is trichothiodystrophy inherited ? | This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. | growth_hormone_receptor | This condition is inherited in an autosomal recessive pattern |
715 | What are the treatments for trichothiodystrophy ? | These resources address the diagnosis or management of trichothiodystrophy: - Genetic Testing Registry: BIDS brittle hair-impaired intellect-decreased fertility-short stature syndrome - Genetic Testing Registry: Photosensitive trichothiodystrophy - Genetic Testing Registry: Trichothiodystrophy, nonphotosensitive 1 ... | growth_hormone_receptor | Genetic Testing Registry |
716 | What is (are) Tourette syndrome ? | Tourette syndrome is a complex disorder characterized by repetitive, sudden, and involuntary movements or noises called tics. Tics usually appear in childhood, and their severity varies over time. In most cases, tics become milder and less frequent in late adolescence and adulthood. Tourette syndrome involves both mot... | growth_hormone_receptor | a complex disorder |
717 | How many people are affected by Tourette syndrome ? | Although the exact incidence of Tourette syndrome is uncertain, it is estimated to affect 1 to 10 in 1,000 children. This disorder occurs in populations and ethnic groups worldwide, and it is more common in males than in females. | growth_hormone_receptor | 1 to 10 in 1,000 children |
718 | What are the genetic changes related to Tourette syndrome ? | A variety of genetic and environmental factors likely play a role in causing Tourette syndrome. Most of these factors are unknown, and researchers are studying risk factors before and after birth that may contribute to this complex disorder. Scientists believe that tics may result from changes in brain chemicals (neuro... | growth_hormone_receptor | changes in other genes, which have not been identified |
719 | Is Tourette syndrome inherited ? | The inheritance pattern of Tourette syndrome is unclear. Although the features of this condition can cluster in families, many genetic and environmental factors are likely to be involved. Among family members of an affected person, it is difficult to predict who else may be at risk of developing the condition. Tourett... | growth_hormone_receptor | unclear |
720 | What are the treatments for Tourette syndrome ? | These resources address the diagnosis or management of Tourette syndrome: - Gene Review: Gene Review: Tourette Disorder Overview - Genetic Testing Registry: Tourette Syndrome - MedlinePlus Encyclopedia: Gilles de la Tourette syndrome These resources from MedlinePlus offer information about the diagnosis and manage... | growth_hormone_receptor | Surgery and Rehabilitation - Genetic Counseling - Palliative Care |
721 | What is (are) prion disease ? | Prion disease represents a group of conditions that affect the nervous system in humans and animals. In people, these conditions impair brain function, causing changes in memory, personality, and behavior; a decline in intellectual function (dementia); and abnormal movements, particularly difficulty with coordinating m... | growth_hormone_receptor | a group of conditions that affect the nervous system in humans and animals |
722 | How many people are affected by prion disease ? | These disorders are very rare. Although the exact prevalence of prion disease is unknown, studies suggest that this group of conditions affects about one person per million worldwide each year. Approximately 350 new cases are reported annually in the United States. | growth_hormone_receptor | one person per million |
723 | What are the genetic changes related to prion disease ? | Between 10 and 15 percent of all cases of prion disease are caused by mutations in the PRNP gene. Because they can run in families, these forms of prion disease are classified as familial. Familial prion diseases, which have overlapping signs and symptoms, include familial Creutzfeldt-Jakob disease (CJD), Gerstmann-Str... | growth_hormone_receptor | iatrogenic |
724 | Is prion disease inherited ? | Familial forms of prion disease are inherited in an autosomal dominant pattern, which means one copy of the altered PRNP gene in each cell is sufficient to cause the disorder. In most cases, an affected person inherits the altered gene from one affected parent. In some people, familial forms of prion disease are caused... | growth_hormone_receptor | in an autosomal dominant pattern |
725 | What are the treatments for prion disease ? | These resources address the diagnosis or management of prion disease: - Creutzfeldt-Jakob Disease Foundation: Suggestions for Patient Care - Gene Review: Gene Review: Genetic Prion Diseases - Genetic Testing Registry: Genetic prion diseases - MedlinePlus Encyclopedia: Creutzfeldt-Jakob disease - MedlinePlus Encycl... | growth_hormone_receptor | Treatments for Creutzfeldt-Jakob Disease |
726 | What is (are) Cohen syndrome ? | Cohen syndrome is an inherited disorder that affects many parts of the body and is characterized by developmental delay, intellectual disability, small head size (microcephaly), and weak muscle tone (hypotonia). Other features include progressive nearsightedness (myopia), degeneration of the light-sensitive tissue at t... | growth_hormone_receptor | an inherited disorder that affects many parts of the body |
727 | How many people are affected by Cohen syndrome ? | The exact incidence of Cohen syndrome is unknown. It has been diagnosed in fewer than 1,000 people worldwide. More cases are likely undiagnosed. | growth_hormone_receptor | fewer than 1,000 |
728 | What are the genetic changes related to Cohen syndrome ? | Mutations in the VPS13B gene (frequently called the COH1 gene) cause Cohen syndrome. The function of the protein produced from the VPS13B gene is unknown; however, researchers suggest it may be involved in sorting and transporting proteins inside the cell. Most mutations in the VPS13B gene are believed to prevent cells... | growth_hormone_receptor | Mutations in the VPS13B gene |
729 | Is Cohen 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 | autosomal recessive pattern |
730 | What are the treatments for Cohen syndrome ? | These resources address the diagnosis or management of Cohen syndrome: - Gene Review: Gene Review: Cohen Syndrome - Genetic Testing Registry: Cohen syndrome - MedlinePlus Encyclopedia: Hypotonia These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - D... | growth_hormone_receptor | Surgery and Rehabilitation - Genetic Counseling - Palliative Care |
731 | What is (are) progressive supranuclear palsy ? | Progressive supranuclear palsy is a brain disorder that affects movement, vision, speech, and thinking ability (cognition). The signs and symptoms of this disorder usually become apparent in mid- to late adulthood, most often in a person's 60s. Most people with progressive supranuclear palsy survive 5 to 9 years after ... | growth_hormone_receptor | a brain disorder that affects movement, vision, speech, and thinking ability |
732 | How many people are affected by progressive supranuclear palsy ? | The exact prevalence of progressive supranuclear palsy is unknown. It may affect about 6 in 100,000 people worldwide. | growth_hormone_receptor | 6 in 100,000 |
733 | What are the genetic changes related to progressive supranuclear palsy ? | In most cases, the genetic cause of progressive supranuclear palsy is unknown. Rarely, the disease results from mutations in the MAPT gene. Certain normal variations (polymorphisms) in the MAPT gene have also been associated with an increased risk of developing progressive supranuclear palsy. The MAPT gene provides in... | growth_hormone_receptor | chromosome 1 and chromosome 11 |
734 | Is progressive supranuclear palsy inherited ? | Most cases of progressive supranuclear palsy are sporadic, which means they occur in people with no history of the disorder in their family. However, some people with this disorder have had family members with related conditions, such as parkinsonism and a loss of intellectual functions (dementia). When progressive su... | growth_hormone_receptor | it can have an autosomal dominant pattern of inheritance |
735 | What are the treatments for progressive supranuclear palsy ? | These resources address the diagnosis or management of progressive supranuclear palsy: - Gene Review: Gene Review: MAPT-Related Disorders - Genetic Testing Registry: Progressive supranuclear ophthalmoplegia - NHS Choices (UK): Diagnosis of Progressive Supranuclear Palsy - NHS Choices (UK): Treatment of Progressive ... | growth_hormone_receptor | Treatment of Progressive Supranuclear Palsy - Partners |
736 | What is (are) Liddle syndrome ? | Liddle syndrome is an inherited form of high blood pressure (hypertension). This condition is characterized by severe hypertension that begins unusually early in life, often in childhood, although some affected individuals are not diagnosed until adulthood. Some people with Liddle syndrome have no additional signs or s... | growth_hormone_receptor | an inherited form of high blood pressure |
737 | How many people are affected by Liddle syndrome ? | Liddle syndrome is a rare condition, although its prevalence is unknown. The condition has been found in populations worldwide. | growth_hormone_receptor | populations worldwide |
738 | What are the genetic changes related to Liddle syndrome ? | Liddle syndrome is caused by mutations in the SCNN1B or SCNN1G gene. Each of these genes provides instructions for making a piece (subunit) of a protein complex called the epithelial sodium channel (ENaC). These channels are found at the surface of certain cells called epithelial cells in many tissues of the body, incl... | growth_hormone_receptor | SCNN1B or SCNN1G gene |
739 | Is Liddle syndrome inherited ? | This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. | growth_hormone_receptor | This condition is inherited in an autosomal dominant pattern |
740 | What are the treatments for Liddle syndrome ? | These resources address the diagnosis or management of Liddle syndrome: - Genetic Testing Registry: Pseudoprimary hyperaldosteronism - Merck Manual for Health Care Professionals These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests -... | growth_hormone_receptor | Genetic Testing Registry |
741 | What is (are) cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy ? | Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy, commonly known as CARASIL, is an inherited condition that causes stroke and other impairments. Abnormalities affecting the brain and other parts of the nervous system become apparent in an affected person's twenties or thirtie... | growth_hormone_receptor | CARASIL |
742 | How many people are affected by cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy ? | CARASIL appears to be a rare condition. It has been identified in about 50 people, primarily in Japan and China. | growth_hormone_receptor | 50 |
743 | What are the genetic changes related to cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy ? | CARASIL is caused by mutations in the HTRA1 gene. This gene provides instructions for making an enzyme that is found in many of the body's organs and tissues. One of the major functions of the HTRA1 enzyme is to regulate signaling by proteins in the transforming growth factor-beta (TGF-) family. TGF- signaling is essen... | growth_hormone_receptor | blood vessel abnormalities |
744 | Is cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy inherited ? | As its name suggests, this condition is inherited in an autosomal recessive pattern. Autosomal recessive inheritance 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... | growth_hormone_receptor | inherited in an autosomal recessive pattern |
745 | What are the treatments for cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy ? | These resources address the diagnosis or management of CARASIL: - Gene Review: Gene Review: CARASIL - Genetic Testing Registry: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy These resources from MedlinePlus offer information about the diagnosis and management of various... | growth_hormone_receptor | CARASIL - Genetic Testing Registry |
746 | What is (are) Charcot-Marie-Tooth disease ? | Charcot-Marie-Tooth disease is a group of progressive disorders that affect the peripheral nerves. Peripheral nerves connect the brain and spinal cord to muscles and to sensory cells that detect sensations such as touch, pain, heat, and sound. Damage to the peripheral nerves can result in loss of sensation and wasting ... | growth_hormone_receptor | a group of progressive disorders that affect the peripheral nerves |
747 | How many people are affected by Charcot-Marie-Tooth disease ? | Charcot-Marie-Tooth disease is the most common inherited disorder that involves the peripheral nerves, affecting an estimated 150,000 people in the United States. It occurs in populations worldwide with a prevalence of about 1 in 2,500 individuals. | growth_hormone_receptor | 150,000 |
748 | What are the genetic changes related to Charcot-Marie-Tooth disease ? | Charcot-Marie-Tooth disease is caused by mutations in many different genes. These genes provide instructions for making proteins that are involved in the function of peripheral nerves in the feet, legs, and hands. The gene mutations that cause Charcot-Marie-Tooth disease affect the function of the proteins in ways that... | growth_hormone_receptor | Mutations in additional genes |
749 | Is Charcot-Marie-Tooth disease inherited ? | The pattern of inheritance varies with the type of Charcot-Marie-Tooth disease. CMT1, most cases of CMT2, and most intermediate forms are inherited in an autosomal dominant pattern. This pattern of inheritance means that one copy of the altered gene in each cell is sufficient to cause the disorder. In most cases, an af... | growth_hormone_receptor | The pattern of inheritance varies |
750 | What are the treatments for Charcot-Marie-Tooth disease ? | These resources address the diagnosis or management of Charcot-Marie-Tooth disease: - Gene Review: Gene Review: Charcot-Marie-Tooth Hereditary Neuropathy Overview - Gene Review: Gene Review: Charcot-Marie-Tooth Neuropathy Type 1 - Gene Review: Gene Review: Charcot-Marie-Tooth Neuropathy Type 2 - Gene Review: Gene R... | growth_hormone_receptor | type I - Genetic Testing Registry |
751 | What is (are) Maffucci syndrome ? | Maffucci syndrome is a disorder that primarily affects the bones and skin. It is characterized by multiple enchondromas, which are noncancerous (benign) growths of cartilage that develop within the bones. These growths most commonly occur in the limb bones, especially in the bones of the hands and feet; however, they m... | growth_hormone_receptor | a disorder that primarily affects the bones and skin |
752 | How many people are affected by Maffucci syndrome ? | Maffucci syndrome is very rare. Since it was first described in 1881, fewer than 200 cases have been reported worldwide. | growth_hormone_receptor | fewer than 200 |
753 | What are the genetic changes related to Maffucci syndrome ? | In most people with Maffucci syndrome, the disorder is caused by mutations in the IDH1 or IDH2 gene. These genes provide instructions for making enzymes called isocitrate dehydrogenase 1 and isocitrate dehydrogenase 2, respectively. These enzymes convert a compound called isocitrate to another compound called 2-ketoglu... | growth_hormone_receptor | Mutations in other genes |
754 | Is Maffucci syndrome inherited ? | Maffucci syndrome is not inherited. The mutations that cause this disorder are somatic, which means they occur during a person's lifetime. A somatic mutation occurs in a single cell. As that cell continues to grow and divide, the cells derived from it also have the same mutation. In Maffucci syndrome, the mutation is t... | growth_hormone_receptor | Maffucci syndrome is not inherited |
755 | What are the treatments for Maffucci syndrome ? | These resources address the diagnosis or management of Maffucci syndrome: - Genetic Testing Registry: Maffucci syndrome These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Coun... | growth_hormone_receptor | Genetic Testing Registry |
756 | What is (are) maternally inherited diabetes and deafness ? | Maternally inherited diabetes and deafness (MIDD) is a form of diabetes that is often accompanied by hearing loss, especially of high tones. The diabetes in MIDD is characterized by high blood sugar levels (hyperglycemia) resulting from a shortage of the hormone insulin, which regulates the amount of sugar in the blood... | growth_hormone_receptor | a form of diabetes that is often accompanied by hearing loss |
757 | How many people are affected by maternally inherited diabetes and deafness ? | About 1 percent of people with diabetes have MIDD. The condition is most common in the Japanese population and has been found in populations worldwide. | growth_hormone_receptor | About 1 percent |
758 | What are the genetic changes related to maternally inherited diabetes and deafness ? | Mutations in the MT-TL1, MT-TK, or MT-TE gene cause MIDD. These genes are found in mitochondrial DNA, which is part of cellular structures called mitochondria. Although most DNA is packaged in chromosomes within the cell nucleus, mitochondria also have a small amount of their own DNA (known as mitochondrial DNA or mtDN... | growth_hormone_receptor | hearing loss or the other features of MIDD |
759 | Is maternally inherited diabetes and deafness inherited ? | MIDD is inherited in a mitochondrial pattern, which is also known as maternal inheritance. This pattern of inheritance applies to genes contained in mtDNA. Because egg cells, but not sperm cells, contribute mitochondria to the developing embryo, children can only inherit disorders resulting from mtDNA mutations from th... | growth_hormone_receptor | mitochondrial pattern |
760 | What are the treatments for maternally inherited diabetes and deafness ? | These resources address the diagnosis or management of MIDD: - Genetic Testing Registry: Diabetes-deafness syndrome maternally transmitted These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitat... | growth_hormone_receptor | Genetic Testing Registry |
761 | What is (are) 22q11.2 deletion syndrome ? | 22q11.2 deletion syndrome (which is also known by several other names, listed below) is a disorder caused by the deletion of a small piece of chromosome 22. The deletion occurs near the middle of the chromosome at a location designated q11.2. 22q11.2 deletion syndrome has many possible signs and symptoms that can affe... | growth_hormone_receptor | a disorder caused by the deletion of a small piece of chromosome 22 |
762 | How many people are affected by 22q11.2 deletion syndrome ? | 22q11.2 deletion syndrome affects an estimated 1 in 4,000 people. However, the condition may actually be more common than this estimate because doctors and researchers suspect it is underdiagnosed due to its variable features. The condition may not be identified in people with mild signs and symptoms, or it may be mist... | growth_hormone_receptor | 1 in 4,000 |
763 | What are the genetic changes related to 22q11.2 deletion syndrome ? | Most people with 22q11.2 deletion syndrome are missing a sequence of about 3 million DNA building blocks (base pairs) on one copy of chromosome 22 in each cell. This region contains 30 to 40 genes, many of which have not been well characterized. A small percentage of affected individuals have shorter deletions in the s... | growth_hormone_receptor | missing a sequence of about 3 million DNA building blocks |
764 | Is 22q11.2 deletion syndrome inherited ? | The inheritance of 22q11.2 deletion syndrome is considered autosomal dominant because a deletion in one copy of chromosome 22 in each cell is sufficient to cause the condition. Most cases of 22q11.2 deletion syndrome are not inherited, however. The deletion occurs most often as a random event during the formation of re... | growth_hormone_receptor | Most cases of 22q11.2 deletion syndrome are not inherited |
765 | What are the treatments for 22q11.2 deletion syndrome ? | These resources address the diagnosis or management of 22q11.2 deletion syndrome: - Gene Review: Gene Review: 22q11.2 Deletion Syndrome - Genetic Testing Registry: Asymmetric crying face association - Genetic Testing Registry: DiGeorge sequence - Genetic Testing Registry: Opitz G/BBB syndrome - Genetic Testing Reg... | growth_hormone_receptor | Asymmetric crying face association - Genetic Testing Registry |
766 | What is (are) 3-hydroxyacyl-CoA dehydrogenase deficiency ? | 3-hydroxyacyl-CoA dehydrogenase deficiency is an inherited condition that prevents the body from converting certain fats to energy, particularly during prolonged periods without food (fasting). Initial signs and symptoms of this disorder typically occur during infancy or early childhood and can include poor appetite, ... | growth_hormone_receptor | an inherited condition that prevents the body from converting certain fats to energy |
767 | How many people are affected by 3-hydroxyacyl-CoA dehydrogenase deficiency ? | The exact incidence of 3-hydroxyacyl-CoA dehydrogenase deficiency is unknown; it has been reported in only a small number of people worldwide. | growth_hormone_receptor | a small number |
768 | What are the genetic changes related to 3-hydroxyacyl-CoA dehydrogenase deficiency ? | Mutations in the HADH gene cause 3-hydroxyacyl-CoA dehydrogenase deficiency. The HADH gene provides instructions for making an enzyme called 3-hydroxyacyl-CoA dehydrogenase. Normally, through a process called fatty acid oxidation, several enzymes work in a step-wise fashion to break down (metabolize) fats and convert ... | growth_hormone_receptor | fatty acid oxidation disorders |
769 | Is 3-hydroxyacyl-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 |
770 | What are the treatments for 3-hydroxyacyl-CoA dehydrogenase deficiency ? | These resources address the diagnosis or management of 3-hydroxyacyl-CoA dehydrogenase deficiency: - Baby's First Test - Genetic Testing Registry: Deficiency of 3-hydroxyacyl-CoA dehydrogenase - United Mitochondrial Disease Foundation: Treatments & Therapies These resources from MedlinePlus offer information about... | growth_hormone_receptor | Treatments & Therapies |
771 | What is (are) familial pityriasis rubra pilaris ? | Familial pityriasis rubra pilaris is a rare genetic condition that affects the skin. The name of the condition reflects its major features: The term "pityriasis" refers to scaling; "rubra" means redness; and "pilaris" suggests the involvement of hair follicles in this disorder. Affected individuals have a salmon-colore... | growth_hormone_receptor | a rare genetic condition that affects the skin |
772 | How many people are affected by familial pityriasis rubra pilaris ? | Familial pityriasis rubra pilaris is a rare condition. Its incidence is unknown, although the familial form appears to be the least common type of pityriasis rubra pilaris. | growth_hormone_receptor | least common |
773 | What are the genetic changes related to familial pityriasis rubra pilaris ? | In most cases of pityriasis rubra pilaris, the cause of the condition is unknown. However, mutations in the CARD14 gene have been found to cause the familial form of the disorder in a few affected families. The CARD14 gene provides instructions for making a protein that turns on (activates) a group of interacting prote... | growth_hormone_receptor | specific features |
774 | Is familial pityriasis rubra pilaris inherited ? | Familial pityriasis rubra pilaris usually has an autosomal dominant inheritance pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. Affected individuals usually inherit the condition from one affected parent. However, the condition is said to have incomplete penetrance be... | growth_hormone_receptor | usually has an autosomal dominant inheritance pattern |
775 | What are the treatments for familial pityriasis rubra pilaris ? | These resources address the diagnosis or management of familial pityriasis rubra pilaris: - Genetic Testing Registry: Pityriasis rubra pilaris These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabil... | growth_hormone_receptor | Genetic Testing Registry |
776 | What is (are) genitopatellar syndrome ? | Genitopatellar syndrome is a rare condition characterized by genital abnormalities, missing or underdeveloped kneecaps (patellae), intellectual disability, and abnormalities affecting other parts of the body. The genital abnormalities in affected males typically include undescended testes (cryptorchidism) and underdev... | growth_hormone_receptor | distinctive facial features |
777 | How many people are affected by genitopatellar syndrome ? | Genitopatellar syndrome is estimated to occur in fewer than 1 per million people. At least 18 cases have been reported in the medical literature. | growth_hormone_receptor | fewer than 1 per million |
778 | What are the genetic changes related to genitopatellar syndrome ? | Genitopatellar syndrome is caused by mutations in the KAT6B gene. This gene provides instructions for making a type of enzyme called a histone acetyltransferase. These enzymes modify histones, which are structural proteins that attach (bind) to DNA and give chromosomes their shape. By adding a small molecule called an ... | growth_hormone_receptor | unclear |
779 | Is genitopatellar syndrome inherited ? | This condition has an autosomal dominant inheritance pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. All reported cases have resulted from new mutations in the gene and have occurred in people with no history of the disorder in their family. | growth_hormone_receptor | This condition has an autosomal dominant inheritance pattern |
780 | What are the treatments for genitopatellar syndrome ? | These resources address the diagnosis or management of genitopatellar syndrome: - Gene Review: Gene Review: KAT6B-Related Disorders - Genetic Testing Registry: Genitopatellar syndrome 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 |
781 | What is (are) glutaric acidemia type I ? | Glutaric acidemia type I is an inherited disorder in which the body is unable to process certain proteins properly. People with this disorder have inadequate levels of an enzyme that helps break down the amino acids lysine, hydroxylysine, and tryptophan, which are building blocks of protein. Excessive levels of these a... | growth_hormone_receptor | an inherited disorder |
782 | How many people are affected by glutaric acidemia type I ? | Glutaric acidemia type I occurs in approximately 1 of every 30,000 to 40,000 individuals. It is much more common in the Amish community and in the Ojibwa population of Canada, where up to 1 in 300 newborns may be affected. | growth_hormone_receptor | 1 of every 30,000 to 40,000 |
783 | What are the genetic changes related to glutaric acidemia type I ? | Mutations in the GCDH gene cause glutaric acidemia type I. The GCDH gene provides instructions for making the enzyme glutaryl-CoA dehydrogenase. This enzyme is involved in processing the amino acids lysine, hydroxylysine, and tryptophan. Mutations in the GCDH gene prevent production of the enzyme or result in the pro... | growth_hormone_receptor | Mutations in the GCDH gene |
784 | Is glutaric acidemia type I inherited ? | This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. | growth_hormone_receptor | autosomal recessive pattern |
785 | What are the treatments for glutaric acidemia type I ? | These resources address the diagnosis or management of glutaric acidemia type I: - Baby's First Test - Genetic Testing Registry: Glutaric aciduria, type 1 These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surger... | growth_hormone_receptor | Baby's First Test - Genetic Testing Registry |
786 | What is (are) fatty acid hydroxylase-associated neurodegeneration ? | Fatty acid hydroxylase-associated neurodegeneration (FAHN) is a progressive disorder of the nervous system (neurodegeneration) characterized by problems with movement and vision that begin during childhood or adolescence. Changes in the way a person walks (gait) and frequent falls are usually the first noticeable sign... | growth_hormone_receptor | FAHN) is a progressive disorder of the nervous system |
787 | How many people are affected by fatty acid hydroxylase-associated neurodegeneration ? | FAHN is a rare disorder; only a few dozen cases have been reported. | growth_hormone_receptor | a few dozen |
788 | What are the genetic changes related to fatty acid hydroxylase-associated neurodegeneration ? | Mutations in the FA2H gene cause FAHN. The FA2H gene provides instructions for making an enzyme called fatty acid 2-hydroxylase. This enzyme modifies fatty acids, which are building blocks used to make fats (lipids). Specifically, fatty acid 2-hydroxylase adds a single oxygen atom to a hydrogen atom at a particular poi... | growth_hormone_receptor | intellectual decline and optic nerve atrophy |
789 | Is fatty acid hydroxylase-associated neurodegeneration 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 |
790 | What are the treatments for fatty acid hydroxylase-associated neurodegeneration ? | These resources address the diagnosis or management of fatty acid hydroxylase-associated neurodegeneration: - Gene Review: Gene Review: Fatty Acid Hydroxylase-Associated Neurodegeneration - Genetic Testing Registry: Spastic paraplegia 35 These resources from MedlinePlus offer information about the diagnosis and man... | growth_hormone_receptor | Gene Review |
791 | What is (are) X-linked chondrodysplasia punctata 1 ? | X-linked chondrodysplasia punctata 1 is a disorder of cartilage and bone development that occurs almost exclusively in males. Chondrodysplasia punctata is an abnormality that appears on x-rays as spots (stippling) near the ends of bones and in cartilage. In most infants with X-linked chondrodysplasia punctata 1, this s... | growth_hormone_receptor | a disorder of cartilage and bone development |
792 | How many people are affected by X-linked chondrodysplasia punctata 1 ? | The prevalence of X-linked chondrodysplasia punctata 1 is unknown. Several dozen affected males have been reported in the scientific literature. | growth_hormone_receptor | Several dozen |
793 | What are the genetic changes related to X-linked chondrodysplasia punctata 1 ? | X-linked chondrodysplasia punctata 1 is caused by genetic changes involving the ARSE gene. This gene provides instructions for making an enzyme called arylsulfatase E. The function of this enzyme is unknown, although it appears to be important for normal skeletal development and is thought to participate in a chemical ... | growth_hormone_receptor | the ARSE gene |
794 | Is X-linked chondrodysplasia punctata 1 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 ARSE gene in each cell is sufficient to cause the condition. In females (who h... | growth_hormone_receptor | This condition is inherited in an X-linked recessive pattern |
795 | What are the treatments for X-linked chondrodysplasia punctata 1 ? | These resources address the diagnosis or management of X-linked chondrodysplasia punctata 1: - Gene Review: Gene Review: Chondrodysplasia Punctata 1, X-Linked - Genetic Testing Registry: Chondrodysplasia punctata 1, X-linked recessive These resources from MedlinePlus offer information about the diagnosis and manage... | growth_hormone_receptor | X-Linked - Genetic Testing Registry |
796 | What is (are) familial lipoprotein lipase deficiency ? | Familial lipoprotein lipase deficiency is an inherited condition that disrupts the normal breakdown of fats in the body, resulting in an increase of certain kinds of fats. People with familial lipoprotein lipase deficiency typically develop signs and symptoms before age 10, with one-quarter showing symptoms by age 1. ... | growth_hormone_receptor | an inherited condition that disrupts the normal breakdown of fats in the body |
797 | How many people are affected by familial lipoprotein lipase deficiency ? | This condition affects about 1 per million people worldwide. It is much more common in certain areas of the province of Quebec, Canada. | growth_hormone_receptor | 1 per million |
798 | What are the genetic changes related to familial lipoprotein lipase deficiency ? | Mutations in the LPL gene cause familial lipoprotein lipase deficiency. The LPL gene provides instructions for producing an enzyme called lipoprotein lipase, which is found primarily on the surface of cells that line tiny blood vessels (capillaries) within muscles and fatty (adipose) tissue. This enzyme helps break dow... | growth_hormone_receptor | reduction or elimination of lipoprotein lipase activity |
799 | Is familial lipoprotein lipase 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. Researchers spe... | growth_hormone_receptor | This condition is inherited in an autosomal recessive pattern |
800 | What are the treatments for familial lipoprotein lipase deficiency ? | These resources address the diagnosis or management of familial lipoprotein lipase deficiency: - Gene Review: Gene Review: Familial Lipoprotein Lipase Deficiency - Genetic Testing Registry: Hyperlipoproteinemia, type I - MedlinePlus Encyclopedia: Chylomicronemia Syndrome - MedlinePlus Encyclopedia: Familial Lipopro... | growth_hormone_receptor | Familial Lipoprotein Lipase Deficiency |
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