fenil210/Med-Lamma huggingface dataset:
How many people are affected by PPM-X syndrome ?
The prevalence of PPM-X syndrome is unknown. + GHR + PPM-X syndrome
What are the genetic changes related to PPM-X syndrome ?
Mutations in the MECP2 gene cause PPM-X syndrome. The MECP2 gene provides instructions for making a protein called MeCP2 that is critical for normal brain function. Researchers believe that this protein has several functions, including regulating other genes in the brain by switching them off when they are not needed. The MeCP2 protein likely plays a role in maintaining connections (synapses) between nerve cells. The MeCP2 protein may also control the production of different versions of certain proteins in nerve cells. Although mutations in the MECP2 gene disrupt the normal function of nerve cells, it is unclear how these mutations lead to the signs and symptoms of PPM-X syndrome.  Some MECP2 gene mutations that cause PPM-X syndrome disrupt attachment (binding) of the MeCP2 protein to DNA, and other mutations alter the 3-dimensional shape of the protein. These mutations lead to the production of a MeCP2 protein that cannot properly interact with DNA or other proteins and so cannot control the expression of genes. It is unclear how MECP2 gene mutations lead to the signs and symptoms of PPM-X syndrome, but misregulation of genes in the brain likely plays a role. + GHR + PPM-X syndrome
Is PPM-X syndrome inherited ?
More than 99 percent of PPM-X syndrome cases occur in people with no history of the disorder in their family. Many of these cases result from new mutations in the MECP2 gene.  A few families with more than one affected family member have been described. These cases helped researchers determine that PPM-X syndrome has an X-linked pattern of inheritance. A condition is considered X-linked if the mutated gene that causes the disorder is located on the X chromosome, one of the two sex chromosomes. One copy of the altered gene in each cell is sufficient to cause the condition, although females with one altered copy of the gene are usually less severely affected than males. + GHR + PPM-X syndrome
What are the treatments for PPM-X syndrome ?
These resources address the diagnosis or management of PPM-X syndrome:  - Cincinnati Children's Hospital: MECP2-Related Disorders  - Gene Review: Gene Review: MECP2-Related Disorders   These resources from MedlinePlus offer information about the diagnosis and management of various health conditions:  - Diagnostic Tests  - Drug Therapy  - Surgery and Rehabilitation  - Genetic Counseling   - Palliative Care + GHR + PPM-X syndrome
What is (are) cardiofaciocutaneous syndrome ?
Cardiofaciocutaneous syndrome is a disorder that affects many parts of the body, particularly the heart (cardio-), facial features (facio-), and the skin and hair (cutaneous). People with this condition also have delayed development and intellectual disability, usually ranging from moderate to severe.  Heart defects occur in most people with cardiofaciocutaneous syndrome. The heart problems most commonly associated with this condition include malformations of one of the heart valves that impairs blood flow from the heart to the lungs (pulmonic stenosis), a hole between the two upper chambers of the heart (atrial septal defect), and a form of heart disease that enlarges and weakens the heart muscle (hypertrophic cardiomyopathy).  Cardiofaciocutaneous syndrome is also characterized by distinctive facial features. These include a high forehead that narrows at the temples, a short nose, widely spaced eyes (ocular hypertelorism), outside corners of the eyes that point downward (down-slanting palpebral fissures), droopy eyelids (ptosis), a small chin, and low-set ears. Overall, the face is broad and long, and the facial features are sometimes described as "coarse."  Skin abnormalities occur in almost everyone with cardiofaciocutaneous syndrome. Many affected people have dry, rough skin; dark-colored moles (nevi); wrinkled palms and soles; and a skin condition called keratosis pilaris, which causes small bumps to form on the arms, legs, and face. People with cardiofaciocutaneous syndrome also tend to have thin, dry, curly hair and sparse or absent eyelashes and eyebrows.  Infants with cardiofaciocutaneous syndrome typically have weak muscle tone (hypotonia), feeding difficulties, and a failure to grow and gain weight at the normal rate (failure to thrive). Additional features of this disorder in children and adults can include an unusually large head (macrocephaly), short stature, problems with vision, and seizures.  The signs and symptoms of cardiofaciocutaneous syndrome overlap significantly with those of two other genetic conditions, Costello syndrome and Noonan syndrome. The three conditions are distinguished by their genetic cause and specific patterns of signs and symptoms; however, it can be difficult to tell these conditions apart, particularly in infancy. Unlike Costello syndrome, which significantly increases a person's cancer risk, cancer does not appear to be a major feature of cardiofaciocutaneous syndrome. + GHR + cardiofaciocutaneous syndrome
How many people are affected by cardiofaciocutaneous syndrome ?
Cardiofaciocutaneous syndrome is a very rare condition whose incidence is unknown. Researchers estimate that 200 to 300 people worldwide have this condition. + GHR + cardiofaciocutaneous syndrome
What are the genetic changes related to cardiofaciocutaneous syndrome ?
Cardiofaciocutaneous syndrome can be caused by mutations in several genes. Mutations in the BRAF gene are most common, accounting for 75 to 80 percent of all cases. Another 10 to 15 percent of cases result from mutations in one of two similar genes, MAP2K1 and MAP2K2. Fewer than 5 percent of cases are caused by mutations in the KRAS gene.  The BRAF, MAP2K1, MAP2K2, and KRAS genes provide instructions for making proteins that work together to transmit chemical signals from outside the cell to the cell's nucleus. This chemical signaling pathway, known as the RAS/MAPK pathway, is essential for normal development before birth. It helps control the growth and division (proliferation) of cells, the process by which cells mature to carry out specific functions (differentiation), cell movement, and the self-destruction of cells (apoptosis).  Mutations in any of these genes can result in the characteristic features of cardiofaciocutaneous syndrome. The protein made from the mutated gene is overactive, which alters tightly regulated chemical signaling during development. The altered signaling interferes with the development of many organs and tissues, leading to the signs and symptoms of cardiofaciocutaneous syndrome.  Some people with the signs and symptoms of cardiofaciocutaneous syndrome do not have an identified mutation in the BRAF, MAP2K1, MAP2K2, or KRAS gene. In these cases, affected individuals may actually have Costello syndrome or Noonan syndrome, which are also caused by mutations in genes involved in RAS/MAPK signaling. The proteins produced from these genes are all part of the same chemical signaling pathway, which helps explain why mutations in different genes can cause conditions with such similar signs and symptoms. The group of related conditions that includes cardiofaciocutaneous syndrome, Costello syndrome, and Noonan syndrome is often called the RASopathies. + GHR + cardiofaciocutaneous syndrome
Is cardiofaciocutaneous syndrome inherited ?
Cardiofaciocutaneous syndrome is considered to be an autosomal dominant condition, which means one copy of an altered gene in each cell is sufficient to cause the disorder.  Cardiofaciocutaneous syndrome usually results from new gene mutations and occurs in people with no history of the disorder in their family. In a few reported cases, an affected person has inherited the condition from an affected parent. + GHR + cardiofaciocutaneous syndrome
What are the treatments for cardiofaciocutaneous syndrome ?
These resources address the diagnosis or management of cardiofaciocutaneous syndrome:  - Gene Review: Gene Review: Cardiofaciocutaneous Syndrome  - Genetic Testing Registry: Cardiofaciocutaneous 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 + GHR + cardiofaciocutaneous syndrome
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 changes specifically affect the shafts of the long bones, called diaphyses, and areas near the ends of the bones called metaphyses. The bone abnormalities can lead to bowing of the legs and difficulty walking.  Ghosal hematodiaphyseal dysplasia also causes scarring (fibrosis) of the bone marrow, which is the spongy tissue inside long bones where blood cells are formed. The abnormal bone marrow cannot produce enough red blood cells, which leads to anemia.Signs and symptoms of anemia that have been reported in people with Ghosal hematodiaphyseal dysplasia include extremely pale skin (pallor) and excessive tiredness (fatigue). + GHR + Ghosal hematodiaphyseal dysplasia
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. + GHR + Ghosal hematodiaphyseal dysplasia
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, researchers suspect that thromboxane A synthase 1 may also be important for bone remodeling, which is a normal process in which old bone is removed and new bone is created to replace it, and for the production of red blood cells in bone marrow.  Mutations in the TBXAS1 gene severely reduce the activity of thromboxane A synthase 1. Studies suggest that a lack of this enzyme's activity may lead to abnormal bone remodeling and fibrosis of the bone marrow. However, the mechanism by which a shortage of thromboxane A synthase 1 activity leads to the particular abnormalities characteristic of Ghosal hematodiaphyseal dysplasia is unclear. + GHR + Ghosal hematodiaphyseal dysplasia
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. + GHR + Ghosal hematodiaphyseal dysplasia
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 information about the diagnosis and management of various health conditions:  - Diagnostic Tests  - Drug Therapy  - Surgery and Rehabilitation  - Genetic Counseling   - Palliative Care + GHR + Ghosal hematodiaphyseal dysplasia
What is (are) Bart-Pumphrey syndrome ?
Bart-Pumphrey syndrome is characterized by nail and skin abnormalities and hearing loss.  People with Bart-Pumphrey syndrome typically have a white discoloration of the nails (leukonychia); the nails may also be thick and crumbly. Affected individuals often have wart-like (verrucous) skin growths called knuckle pads on the knuckles of the fingers and toes. They may also have thickening of the skin on the palms of the hands and soles of the feet (palmoplantar keratoderma). The skin abnormalities generally become noticeable during childhood.  The hearing loss associated with Bart-Pumphrey syndrome ranges from moderate to profound and is typically present from birth (congenital).  The signs and symptoms of this disorder may vary even within the same family; while almost all affected individuals have hearing loss, they may have different combinations of the other associated features. + GHR + Bart-Pumphrey syndrome
How many people are affected by Bart-Pumphrey syndrome ?
Bart-Pumphrey syndrome is a rare disorder; its exact prevalence is unknown. Only a few affected families and individual cases have been identified. + GHR + Bart-Pumphrey syndrome
What are the genetic changes related to Bart-Pumphrey syndrome ?
Bart-Pumphrey syndrome is caused by mutations in the GJB2 gene. This gene provides instructions for making a protein called gap junction beta 2, more commonly known as connexin 26. Connexin 26 is a member of the connexin protein family. Connexin proteins form channels called gap junctions that permit the transport of nutrients, charged atoms (ions), and signaling molecules between neighboring cells that are in contact with each other. Gap junctions made with connexin 26 transport potassium ions and certain small molecules.  Connexin 26 is found in cells throughout the body, including the inner ear and the skin. In the inner ear, channels made from connexin 26 are found in a snail-shaped structure called the cochlea. These channels may help to maintain the proper level of potassium ions required for the conversion of sound waves to electrical nerve impulses. This conversion is essential for normal hearing. In addition, connexin 26 may be involved in the maturation of certain cells in the cochlea. Connexin 26 also plays a role in the growth, maturation, and stability of the outermost layer of skin (the epidermis).  The GJB2 gene mutations that cause Bart-Pumphrey syndrome change single protein building blocks (amino acids) in the connexin 26 protein. The altered protein probably disrupts the function of normal connexin 26 in cells, and may interfere with the function of other connexin proteins. This disruption could affect skin growth and also impair hearing by disturbing the conversion of sound waves to nerve impulses. + GHR + Bart-Pumphrey syndrome
Is Bart-Pumphrey 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. In most cases, an affected person has one parent with the condition. Other cases result from new mutations in the gene and occur in people with no history of the disorder in their family. + GHR + Bart-Pumphrey syndrome
What are the treatments for Bart-Pumphrey syndrome ?
These resources address the diagnosis or management of Bart-Pumphrey syndrome:  - Foundation for Ichthyosis and Related Skin Types: Palmoplantar Keratoderma  - Genetic Testing Registry: Knuckle pads, deafness AND leukonychia 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 + GHR + Bart-Pumphrey syndrome
What is (are) coloboma ?
Coloboma is an eye abnormality that occurs before birth. Colobomas are missing pieces of tissue in structures that form the eye. They may appear as notches or gaps in one of several parts of the eye, including the colored part of the eye called the iris; the retina, which is the specialized light-sensitive tissue that lines the back of the eye; the blood vessel layer under the retina called the choroid; or the optic nerves, which carry information from the eyes to the brain.  Colobomas may be present in one or both eyes and, depending on their size and location, can affect a person's vision. Colobomas affecting the iris, which result in a "keyhole" appearance of the pupil, generally do not lead to vision loss. Colobomas involving the retina result in vision loss in specific parts of the visual field, generally the upper part. Large retinal colobomas or those affecting the optic nerve can cause low vision, which means vision loss that cannot be completely corrected with glasses or contact lenses.  Some people with coloboma also have a condition called microphthalmia. In this condition, one or both eyeballs are abnormally small. In some affected individuals, the eyeball may appear to be completely missing; however, even in these cases some remaining eye tissue is generally present. Such severe microphthalmia should be distinguished from another condition called anophthalmia, in which no eyeball forms at all. However, the terms anophthalmia and severe microphthalmia are often used interchangeably. Microphthalmia may or may not result in significant vision loss.  People with coloboma may also have other eye abnormalities, including clouding of the lens of the eye (cataract), increased pressure inside the eye (glaucoma) that can damage the optic nerve, vision problems such as nearsightedness (myopia), involuntary back-and-forth eye movements (nystagmus), or separation of the retina from the back of the eye (retinal detachment).  Some individuals have coloboma as part of a syndrome that affects other organs and tissues in the body. These forms of the condition are described as syndromic. When coloboma occurs by itself, it is described as nonsyndromic or isolated.  Colobomas involving the eyeball should be distinguished from gaps that occur in the eyelids. While these eyelid gaps are also called colobomas, they arise from abnormalities in different structures during early development. + GHR + coloboma
How many people are affected by coloboma ?
Coloboma occurs in approximately 1 in 10,000 people. Because coloboma does not always affect vision or the outward appearance of the eye, some people with this condition are likely undiagnosed. + GHR + coloboma
What are the genetic changes related to coloboma ?
Coloboma arises from abnormal development of the eye. During the second month of development before birth, a seam called the optic fissure (also known as the choroidal fissure or embryonic fissure) closes to form the structures of the eye. When the optic fissure does not close completely, the result is a coloboma. The location of the coloboma depends on the part of the optic fissure that failed to close.  Coloboma may be caused by changes in many genes involved in the early development of the eye, most of which have not been identified. The condition may also result from a chromosomal abnormality affecting one or more genes. Most genetic changes associated with coloboma have been identified only in very small numbers of affected individuals.  The risk of coloboma may also be increased by environmental factors that affect early development, such as exposure to alcohol during pregnancy. In these cases, affected individuals usually have other health problems in addition to coloboma. + GHR + coloboma
Is coloboma inherited ?
Most often, isolated coloboma is not inherited, and there is only one affected individual in a family. However, the affected individual is still at risk of passing the coloboma on to his or her own children.  In cases when it is passed down in families, coloboma can have different inheritance patterns. Isolated coloboma is sometimes inherited in an autosomal dominant pattern, which means one copy of an altered gene in each cell is sufficient to cause the disorder. Isolated coloboma can also be inherited in an autosomal recessive pattern, which 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 a mutated gene, but they typically do not show signs and symptoms of the condition.  Less commonly, isolated coloboma may have X-linked dominant or X-linked recessive patterns of inheritance. X-linked means that a gene associated with this condition is located on the X chromosome, which is one of the two sex chromosomes. A characteristic of X-linked inheritance is that fathers cannot pass X-linked traits to their sons.  X-linked dominant means that in females (who have two X chromosomes), a mutation in one of the two copies of a gene in each cell is sufficient to cause the disorder. In males (who have only one X chromosome), a mutation in the only copy of a gene in each cell causes the disorder. In most cases, males experience more severe symptoms of the disorder than females.  X-linked recessive means that in females, a mutation would have to occur in both copies of a gene to cause the disorder. In males, one altered copy of a gene in each cell is sufficient to cause the condition. Because it is unlikely that females will have two altered copies of a particular gene, males are affected by X-linked recessive disorders much more frequently than females.  When coloboma occurs as a feature of a genetic syndrome or chromosomal abnormality, it may cluster in families according to the inheritance pattern for that condition, which may be autosomal dominant, autosomal recessive, or X-linked. + GHR + coloboma
What are the treatments for coloboma ?
These resources address the diagnosis or management of coloboma:  - Genetic Testing Registry: Congenital ocular coloboma  - Genetic Testing Registry: Microphthalmia, isolated, with coloboma 1  - Genetic Testing Registry: Microphthalmia, isolated, with coloboma 2  - Genetic Testing Registry: Microphthalmia, isolated, with coloboma 3  - Genetic Testing Registry: Microphthalmia, isolated, with coloboma 4  - Genetic Testing Registry: Microphthalmia, isolated, with coloboma 5  - Genetic Testing Registry: Microphthalmia, isolated, with coloboma 6  - National Eye Institute: Facts About Uveal Coloboma   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 + GHR + coloboma
What is (are) hypomagnesemia with secondary hypocalcemia ?
Hypomagnesemia with secondary hypocalcemia is an inherited condition caused by the body's inability to absorb and retain magnesium that is taken in through the diet. As a result, magnesium levels in the blood are severely low (hypomagnesemia).  Hypomagnesemia impairs the function of the parathyroid glands, which are small hormone-producing glands located in the neck. Normally, the parathyroid glands release a hormone that increases blood calcium levels when they are low. Magnesium is required for the production and release of parathyroid hormone, so when magnesium is too low, insufficient parathyroid hormone is produced and blood calcium levels are also reduced (hypocalcemia). The hypocalcemia is described as "secondary" because it occurs as a consequence of hypomagnesemia.  Shortages of magnesium and calcium can cause neurological problems that begin in infancy, including painful muscle spasms (tetany) and seizures. If left untreated, hypomagnesemia with secondary hypocalcemia can lead to developmental delay, intellectual disability, a failure to gain weight and grow at the expected rate (failure to thrive), and heart failure. + GHR + hypomagnesemia with secondary hypocalcemia
How many people are affected by hypomagnesemia with secondary hypocalcemia ?
Hypomagnesemia with secondary hypocalcemia is thought to be a rare condition, but its prevalence is unknown. + GHR + hypomagnesemia with secondary hypocalcemia