sarnsrun/medquad huggingface dataset:
Topic: CHOPS syndrome
Question: What are the treatments for CHOPS syndrome ?
Answer: These resources address the diagnosis or management of CHOPS syndrome:  - Genetic Testing Registry: Chops syndrome  - MedlinePlus Encyclopedia: Congenital Heart Defect -- Corrective Surgery   These resources from MedlinePlus offer information about the diagnosis and management of various health conditions:  - Diagnostic Tests  - Drug Therapy  - Surgery and Rehabilitation  - Genetic Counseling   - Palliative Care
Source: GHR
Topic: Bjrnstad syndrome
Question: What is (are) Bjrnstad syndrome ?
Answer: Bjrnstad syndrome is a rare disorder characterized by abnormal hair and hearing problems. Affected individuals have a condition known as pili torti, which means "twisted hair," so named because the strands appear twisted when viewed under a microscope. The hair is brittle and breaks easily, leading to short hair that grows slowly. In Bjrnstad syndrome, pili torti usually affects only the hair on the head; eyebrows, eyelashes, and hair on other parts of the body are normal. The proportion of hairs affected and the severity of brittleness and breakage can vary. This hair abnormality commonly begins before the age of 2. It may become milder with age, particularly after puberty.  People with Bjrnstad syndrome also have hearing problems that become evident in early childhood. The hearing loss, which is caused by changes in the inner ear (sensorineural deafness), can range from mild to severe. Mildly affected individuals may be unable to hear sounds at certain frequencies, while severely affected individuals may not be able to hear at all.
Source: GHR
Topic: Bjrnstad syndrome
Question: How many people are affected by Bjrnstad syndrome ?
Answer: Bjrnstad syndrome is a rare condition, although its prevalence is unknown. It has been found in populations worldwide.
Source: GHR
Topic: Bjrnstad syndrome
Question: What are the genetic changes related to Bjrnstad syndrome ?
Answer: Bjrnstad syndrome is caused by mutations 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 protein plays a role in oxidative phosphorylation, which is a multistep process through which cells derive much of their energy. The BCS1L protein is critical for the formation of a group of proteins known as complex III, which is one of several protein complexes involved in this process. As a byproduct of its action in oxidative phosphorylation, complex III produces reactive oxygen species, which are harmful molecules that can damage DNA and tissues.  BCS1L gene mutations involved in Bjrnstad syndrome alter the BCS1L protein and impair its ability to aid in complex III formation. The resulting decrease in complex III activity reduces oxidative phosphorylation. For unknown reasons, overall production of reactive oxygen species is increased, although production by complex III is reduced. Researchers believe that tissues in the inner ears and hair follicles are particularly sensitive to reactive oxygen species and are damaged by the abnormal amount of these molecules, leading to the characteristic features of Bjrnstad syndrome.
Source: GHR
Topic: Bjrnstad syndrome
Question: Is Bjrnstad syndrome inherited ?
Answer: Bjrnstad syndrome 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.
Source: GHR
Topic: Bjrnstad syndrome
Question: What are the treatments for Bjrnstad syndrome ?
Answer: These resources address the diagnosis or management of Bjrnstad syndrome:  - Centers for Disease Control and Prevention: Hearing Loss in Children: Screening and Diagnosis  - Genetic Testing Registry: Pili torti-deafness syndrome   These resources from MedlinePlus offer information about the diagnosis and management of various health conditions:  - Diagnostic Tests  - Drug Therapy  - Surgery and Rehabilitation  - Genetic Counseling   - Palliative Care
Source: GHR
Topic: cytochrome P450 oxidoreductase deficiency
Question: What is (are) cytochrome P450 oxidoreductase deficiency ?
Answer: Cytochrome P450 oxidoreductase deficiency is a disorder of hormone production. This condition specifically affects steroid hormones, which are needed for normal development and reproduction. The hormonal changes associated with cytochrome P450 oxidoreductase deficiency can affect the development of the reproductive system, skeleton, and other parts of the body. These signs and symptoms are usually present at birth or become apparent in early childhood.  The signs and symptoms of cytochrome P450 oxidoreductase deficiency vary from mild to severe. Signs and symptoms of mild cases can include a failure to begin menstruation by age 16 (primary amenorrhea), an inability to have biological children (infertility) in both men and women, and a condition called polycystic ovarian syndrome (PCOS). PCOS is characterized by a hormonal imbalance in women that can lead to irregular menstruation, acne, excess body hair (hirsutism), and weight gain.  People with moderate cases of cytochrome P450 oxidoreductase deficiency may have external genitalia that do not look clearly male or female (ambiguous genitalia), and they may have infertility. People with moderate cytochrome P450 oxidoreductase deficiency usually do not have skeletal abnormalities.  The severe form of cytochrome P450 oxidoreductase deficiency is sometimes called Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis. Hormonal changes in affected males and females lead to the development of ambiguous genitalia or other genital abnormalities, as well as infertility. Severe cases are also characterized by skeletal abnormalities, particularly involving bones of the head and face. These include premature fusion of the skull bones (craniosynostosis), a flattened mid-face, a prominent forehead, and low-set ears. Other skeletal abnormalities can include joint deformities (contractures) that limit movement; unusually long, slender fingers (arachnodactyly); bowing of the thigh bones; and radiohumeral synostosis, which is a bone abnormality that locks the elbows in a bent position. A blockage of the nasal passages (choanal atresia), intellectual disability, and delayed development are also associated with the severe form of the disorder.  Some women who are pregnant with fetuses affected by cytochrome P450 oxidoreductase deficiency experience mild symptoms of the disorder even though they themselves do not have the disorder. They may develop excessive body hair growth (hirsutism), acne, and a deep voice. These changes go away soon after delivery.
Source: GHR
Topic: cytochrome P450 oxidoreductase deficiency
Question: How many people are affected by cytochrome P450 oxidoreductase deficiency ?
Answer: The prevalence of cytochrome P450 oxidoreductase deficiency is unknown. About 65 cases have been reported worldwide.  Researchers suspect that cytochrome P450 oxidoreductase deficiency is underdiagnosed and that mild cases of this disorder may be relatively common. Because the signs and symptoms can be difficult to detect, people with mild cytochrome P450 oxidoreductase deficiency may never come to medical attention.
Source: GHR
Topic: cytochrome P450 oxidoreductase deficiency
Question: What are the genetic changes related to cytochrome P450 oxidoreductase deficiency ?
Answer: Cytochrome P450 oxidoreductase deficiency is caused by mutations in the POR gene. This gene provides instructions for making the enzyme cytochrome P450 oxidoreductase, which plays a critical role in the formation of steroid hormones. This group of hormones includes testosterone and estrogen, which are essential for normal sexual development and reproduction; corticosteroids, which are involved in the body's response to stress; and aldosterone, which helps regulate the body's salt and water balance.  Mutations in the POR gene reduce the activity of cytochrome P450 oxidoreductase, which disrupts the production of steroid hormones. Changes in sex hormones such as testosterone and estrogen lead to problems with sexual development before birth and at puberty. In a woman who is pregnant with an affected fetus, abnormal levels of sex hormones in the fetus may cause her to have mild, temporary signs and symptoms of cytochrome P450 oxidoreductase deficiency.  Cytochrome P450 oxidoreductase is also needed for the production of cholesterol. This substance has many essential functions both before and after birth, including roles in the production of steroid hormones and in the formation and growth of bones. Mutations in the POR gene can disrupt the production of cholesterol, which likely impairs normal bone formation in the severe form of cytochrome P450 oxidoreductase deficiency. Studies suggest that a molecule called retinoic acid also plays a role in the skeletal abnormalities found in severe cases. The breakdown of retinoic acid requires cytochrome P450 oxidoreductase; if a shortage of cytochrome P450 oxidoreductase prevents retinoic acid from being broken down, the resulting excess of that molecule can stimulate the abnormal growth and fusion of bones.  The skeletal abnormalities found in the severe form of this disorder can also result from mutations in another gene, FGFR2. Some researchers use the name Antley-Bixler syndrome to describe these features, whether they are caused by mutations in the POR gene or in the FGFR2 gene. Others use the name Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis for cases caused by POR gene mutations, reserving the name Antley-Bixler syndrome for cases caused by FGFR2 gene mutations.
Source: GHR
Topic: cytochrome P450 oxidoreductase deficiency
Question: Is cytochrome P450 oxidoreductase deficiency inherited ?
Answer: 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.
Source: GHR
Topic: cytochrome P450 oxidoreductase deficiency
Question: What are the treatments for cytochrome P450 oxidoreductase deficiency ?
Answer: These resources address the diagnosis or management of cytochrome P450 oxidoreductase deficiency:  - Gene Review: Gene Review: Cytochrome P450 Oxidoreductase Deficiency  - Genetic Testing Registry: Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis  - MedlinePlus Encyclopedia: Ambiguous Genitalia  - MedlinePlus Encyclopedia: Craniosynostosis   These resources from MedlinePlus offer information about the diagnosis and management of various health conditions:  - Diagnostic Tests  - Drug Therapy  - Surgery and Rehabilitation  - Genetic Counseling   - Palliative Care
Source: GHR
Topic: oral-facial-digital syndrome
Question: What is (are) oral-facial-digital syndrome ?
Answer: Oral-facial-digital syndrome is actually a group of related conditions that affect the development of the oral cavity (the mouth and teeth), facial features, and digits (fingers and toes).  Researchers have identified at least 13 potential forms of oral-facial-digital syndrome. The different types are classified by their patterns of signs and symptoms. However, the features of the various types overlap significantly, and some types are not well defined. The classification system for oral-facial-digital syndrome continues to evolve as researchers find more affected individuals and learn more about this disorder.  The signs and symptoms of oral-facial-digital syndrome vary widely. However, most forms of this disorder involve problems with development of the oral cavity, facial features, and digits. Most forms are also associated with brain abnormalities and some degree of intellectual disability.  Abnormalities of the oral cavity that occur in many types of oral-facial-digital syndrome include a split (cleft) in the tongue, a tongue with an unusual lobed shape, and the growth of noncancerous tumors or nodules on the tongue. Affected individuals may also have extra, missing, or defective teeth. Another common feature is an opening in the roof of the mouth (a cleft palate). Some people with oral-facial-digital syndrome have bands of extra tissue (called hyperplastic frenula) that abnormally attach the lip to the gums.  Distinctive facial features often associated with oral-facial-digital syndrome include a split in the lip (a cleft lip); a wide nose with a broad, flat nasal bridge; and widely spaced eyes (hypertelorism).  Abnormalities of the digits can affect both the fingers and the toes in people with oral-facial-digital syndrome. These abnormalities include fusion of certain fingers or toes (syndactyly), digits that are shorter than usual (brachydactyly), or digits that are unusually curved (clinodactyly). The presence of extra digits (polydactyly) is also seen in most forms of oral-facial-digital syndrome.  Other features occur in only one or a few types of oral-facial digital syndrome. These features help distinguish the different forms of the disorder. For example, the most common form of oral-facial-digital syndrome, type I, is associated with polycystic kidney disease. This kidney disease is characterized by the growth of fluid-filled sacs (cysts) that interfere with the kidneys' ability to filter waste products from the blood. Other forms of oral-facial-digital syndrome are characterized by neurological problems, particular changes in the structure of the brain, bone abnormalities, vision loss, and heart defects.
Source: GHR
Topic: oral-facial-digital syndrome
Question: How many people are affected by oral-facial-digital syndrome ?
Answer: Oral-facial-digital syndrome has an estimated incidence of 1 in 50,000 to 250,000 newborns. Type I accounts for the majority of cases of this disorder. The other forms of oral-facial-digital syndrome are very rare; most have been identified in only one or a few families.
Source: GHR
Topic: oral-facial-digital syndrome
Question: What are the genetic changes related to oral-facial-digital syndrome ?
Answer: Only one gene, OFD1, has been associated with oral-facial-digital syndrome. Mutations in this gene cause oral-facial-digital syndrome type I. OFD1 gene mutations were also found in an affected family whose disorder was classified as type VII; however, researchers now believe that type VII is the same as type I.  The OFD1 gene provides instructions for making a protein whose function is not fully understood. It appears to play an important role in the early development of many parts of the body, including the brain, face, limbs, and kidneys. Mutations in the OFD1 gene prevent cells from making enough functional OFD1 protein, which disrupts the normal development of these structures. It is unclear how a shortage of this protein causes the specific features of oral-facial-digital syndrome type I.  Researchers are actively searching for the genetic changes responsible for the other forms of oral-facial-digital syndrome.
Source: GHR
Topic: oral-facial-digital syndrome
Question: Is oral-facial-digital syndrome inherited ?
Answer: Oral-facial-digital syndrome type I 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. Some cells produce a normal amount of OFD1 protein and other cells produce none. The resulting overall reduction in the amount of this protein leads to the signs and symptoms of oral-facial-digital syndrome type I.  In males (who have only one X chromosome), mutations result in a total loss of the OFD1 protein. A lack of this protein is usually lethal very early in development, so very few males are born with oral-facial-digital syndrome type I. Affected males usually die before birth, although a few have lived into early infancy.  Most of the other forms of oral-facial-digital syndrome are inherited in an autosomal recessive pattern, which suggests that both copies of a causative 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.
Source: GHR
Topic: oral-facial-digital syndrome
Question: What are the treatments for oral-facial-digital syndrome ?
Answer: These resources address the diagnosis or management of oral-facial-digital syndrome:  - Gene Review: Gene Review: Oral-Facial-Digital Syndrome Type I  - Genetic Testing Registry: Mohr syndrome  - Genetic Testing Registry: Oral-facial-digital syndrome  - Genetic Testing Registry: Orofacial-digital syndrome III  - Genetic Testing Registry: Orofacial-digital syndrome IV  - Genetic Testing Registry: Orofaciodigital syndrome 10  - Genetic Testing Registry: Orofaciodigital syndrome 11  - Genetic Testing Registry: Orofaciodigital syndrome 5  - Genetic Testing Registry: Orofaciodigital syndrome 6  - Genetic Testing Registry: Orofaciodigital syndrome 7  - Genetic Testing Registry: Orofaciodigital syndrome 8  - Genetic Testing Registry: Orofaciodigital syndrome 9  - Genetic Testing Registry: Orofaciodigital syndromes  - MedlinePlus Encyclopedia: Cleft Lip and Palate  - MedlinePlus Encyclopedia: Polycystic Kidney Disease  - MedlinePlus Encyclopedia: Polydactyly   These resources from MedlinePlus offer information about the diagnosis and management of various health conditions:  - Diagnostic Tests  - Drug Therapy  - Surgery and Rehabilitation  - Genetic Counseling   - Palliative Care
Source: GHR
Topic: 46,XX testicular disorder of sex development
Question: What is (are) 46,XX testicular disorder of sex development ?
Answer: 46,XX testicular disorder of sex development is a condition in which individuals with two X chromosomes in each cell, the pattern normally found in females, have a male appearance. People with this disorder have male external genitalia. They generally have small testes and may also have abnormalities such as undescended testes (cryptorchidism) or the urethra opening on the underside of the penis (hypospadias). A small number of affected people have external genitalia that do not look clearly male or clearly female (ambiguous genitalia). Affected children are typically raised as males and have a male gender identity.  At puberty, most affected individuals require treatment with the male sex hormone testosterone to induce development of male secondary sex characteristics such as facial hair and deepening of the voice (masculinization). Hormone treatment can also help prevent breast enlargement (gynecomastia). Adults with this disorder are usually shorter than average for males and are unable to have children (infertile).
Source: GHR
Topic: 46,XX testicular disorder of sex development
Question: How many people are affected by 46,XX testicular disorder of sex development ?
Answer: Approximately 1 in 20,000 individuals with a male appearance have 46,XX testicular disorder.
Source: GHR
Topic: 46,XX testicular disorder of sex development
Question: What are the genetic changes related to 46,XX testicular disorder of sex development ?
Answer: 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 usually have one X chromosome and one Y chromosome (46,XY).  The SRY gene, normally located on the Y chromosome, provides instructions for making the sex-determining region Y protein. The sex-determining region Y protein causes a fetus to develop as a male.  In about 80 percent of individuals with 46,XX testicular disorder of sex development, the condition results from an abnormal exchange of genetic material between chromosomes (translocation). This exchange occurs as a random event during the formation of sperm cells in the affected person's father. The translocation causes the SRY gene to be misplaced, almost always onto an X chromosome. If a fetus is conceived from a sperm cell with an X chromosome bearing the SRY gene, it will develop as a male despite not having a Y chromosome. This form of the condition is called SRY-positive 46,XX testicular disorder of sex development.  About 20 percent of people with 46,XX testicular disorder of sex development do not have the SRY gene. This form of the condition is called SRY-negative 46,XX testicular disorder of sex development. The cause of the disorder in these individuals is unknown. They are more likely to have ambiguous genitalia than are people with the SRY-positive form.
Source: GHR
Topic: 46,XX testicular disorder of sex development
Question: Is 46,XX testicular disorder of sex development inherited ?
Answer: SRY-positive 46,XX testicular disorder of sex development is almost never inherited. This condition results from the translocation of a Y chromosome segment containing the SRY gene during the formation of sperm (spermatogenesis). Affected people typically have no history of the disorder in their family and cannot pass on the disorder because they are infertile.  In rare cases, the SRY gene may be misplaced onto a chromosome other than the X chromosome. This translocation may be carried by an unaffected father and passed on to a child with two X chromosomes, resulting in 46,XX testicular disorder of sex development. In another very rare situation, a man may carry the SRY gene on both the X and Y chromosome; a child who inherits his X chromosome will develop male sex characteristics despite having no Y chromosome.  The inheritance pattern of SRY-negative 46,XX testicular disorder of sex development is unknown. A few families with unaffected parents have had more than one child with the condition, suggesting the possibility of autosomal recessive inheritance. Autosomal recessive means both copies of a 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.
Source: GHR
Topic: 46,XX testicular disorder of sex development
Question: What are the treatments for 46,XX testicular disorder of sex development ?
Answer: These resources address the diagnosis or management of 46,XX testicular disorder of sex development:  - Gene Review: Gene Review: Nonsyndromic 46,XX Testicular Disorders of Sex Development  - Genetic Testing Registry: 46,XX sex reversal, type 1  - Genetic Testing Registry: 46,XX testicular disorder of sex development  - MedlinePlus Encyclopedia: Ambiguous Genitalia  - MedlinePlus Encyclopedia: Intersex   These resources from MedlinePlus offer information about the diagnosis and management of various health conditions:  - Diagnostic Tests  - Drug Therapy  - Surgery and Rehabilitation  - Genetic Counseling   - Palliative Care
Source: GHR