fenil210/Med-Lamma huggingface dataset:
What are the genetic changes related to pseudoxanthoma elasticum ?
Mutations in the ABCC6 gene cause PXE. This gene provides instructions for making a protein called MRP6 (also known as the ABCC6 protein). This protein is found primarily in cells of the liver and kidneys, with small amounts in other tissues, including the skin, stomach, blood vessels, and eyes. MRP6 is thought to transport certain substances across the cell membrane; however, the substances have not been identified. Some studies suggest that the MRP6 protein stimulates the release of a molecule called adenosine triphosphate (ATP) from cells through an unknown mechanism. ATP can be broken down into other molecules, including adenosine monophosphate (AMP) and pyrophosphate. Pyrophosphate helps control deposition of calcium and other minerals in the body. Other studies suggest that a substance transported by MRP6 is involved in the breakdown of ATP. This unidentified substance is thought to help prevent mineralization of tissues.  Mutations in the ABCC6 gene lead to an absent or nonfunctional MRP6 protein. It is unclear how a lack of properly functioning MRP6 protein leads to PXE. This shortage may impair the release of ATP from cells. As a result, little pyrophosphate is produced, and calcium and other minerals accumulate in elastic fibers of the skin, eyes, blood vessels and other tissues affected by PXE. Alternatively, a lack of functioning MRP6 may impair the transport of a substance that would normally prevent mineralization, leading to the abnormal accumulation of calcium and other minerals characteristic of PXE. + GHR + pseudoxanthoma elasticum
Is pseudoxanthoma elasticum inherited ?
PXE is inherited in an autosomal recessive manner, which means both copies of the gene in each cell have mutations. Most often, the parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but do not show signs and symptoms of the condition.  In a few cases, an affected individual has one affected parent and one parent without the signs and symptoms of the disorder. This situation resembles autosomal dominant inheritance, in which one copy of an altered gene in each cell is sufficient to cause a disorder and the mutation is typically inherited from one affected parent. In these cases of PXE, however, the parent without apparent symptoms has an ABCC6 gene mutation. The affected offspring inherits two altered genes, one from each parent. This appearance of autosomal dominant inheritance when the pattern is actually autosomal recessive is called pseudodominance. + GHR + pseudoxanthoma elasticum
What are the treatments for pseudoxanthoma elasticum ?
These resources address the diagnosis or management of pseudoxanthoma elasticum:  - Gene Review: Gene Review: Pseudoxanthoma Elasticum  - Genetic Testing Registry: Pseudoxanthoma elasticum   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 + pseudoxanthoma elasticum
What is (are) myotonia congenita ?
Myotonia congenita is a disorder that affects muscles used for movement (skeletal muscles). Beginning in childhood, people with this condition experience bouts of sustained muscle tensing (myotonia) that prevent muscles from relaxing normally. Although myotonia can affect any skeletal muscles, including muscles of the face and tongue, it occurs most often in the legs. Myotonia causes muscle stiffness that can interfere with movement. In some people the stiffness is very mild, while in other cases it may be severe enough to interfere with walking, running, and other activities of daily life. These muscle problems are particularly noticeable during movement following a period of rest. Many affected individuals find that repeated movements can temporarily alleviate their muscle stiffness, a phenomenon known as the warm-up effect.  The two major types of myotonia congenita are known as Thomsen disease and Becker disease. These conditions are distinguished by the severity of their symptoms and their patterns of inheritance. Becker disease usually appears later in childhood than Thomsen disease and causes more severe muscle stiffness, particularly in males. People with Becker disease often experience temporary attacks of muscle weakness, particularly in the arms and hands, brought on by movement after periods of rest. They may also develop mild, permanent muscle weakness over time. This muscle weakness is not seen in people with Thomsen disease. + GHR + myotonia congenita
How many people are affected by myotonia congenita ?
Myotonia congenita is estimated to affect 1 in 100,000 people worldwide. This condition is more common in northern Scandinavia, where it occurs in approximately 1 in 10,000 people. + GHR + myotonia congenita
What are the genetic changes related to myotonia congenita ?
Mutations in the CLCN1 gene cause myotonia congenita.  The CLCN1 gene provides instructions for making a protein that is critical for the normal function of skeletal muscle cells. For the body to move normally, skeletal muscles must tense (contract) and relax in a coordinated way. Muscle contraction and relaxation are controlled by the flow of charged atoms (ions) into and out of muscle cells. Specifically, the protein produced from the CLCN1 gene forms a channel that controls the flow of negatively charged chlorine atoms (chloride ions) into these cells. The main function of this channel is to stabilize the cells' electrical charge, which prevents muscles from contracting abnormally.  Mutations in the CLCN1 gene alter the usual structure or function of chloride channels. The altered channels cannot properly regulate ion flow, reducing the movement of chloride ions into skeletal muscle cells. This disruption in chloride ion flow triggers prolonged muscle contractions, which are the hallmark of myotonia. + GHR + myotonia congenita
Is myotonia congenita inherited ?
The two forms of myotonia congenita have different patterns of inheritance. Thomsen disease 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.  Becker disease is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. Most often, the parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but do not show signs and symptoms of the condition.  Because several CLCN1 mutations can cause either Becker disease or Thomsen disease, doctors usually rely on characteristic signs and symptoms to distinguish the two forms of myotonia congenita. + GHR + myotonia congenita
What are the treatments for myotonia congenita ?
These resources address the diagnosis or management of myotonia congenita:  - Gene Review: Gene Review: Myotonia Congenita  - Genetic Testing Registry: Congenital myotonia, autosomal dominant form  - Genetic Testing Registry: Congenital myotonia, autosomal recessive form  - Genetic Testing Registry: Myotonia congenita  - MedlinePlus Encyclopedia: Myotonia congenita   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 + myotonia congenita
What is (are) core binding factor acute myeloid leukemia ?
Core binding factor acute myeloid leukemia (CBF-AML) is one form of a cancer of the blood-forming tissue (bone marrow) called acute myeloid leukemia. In normal bone marrow, early blood cells called hematopoietic stem cells develop into several types of blood cells: white blood cells (leukocytes) that protect the body from infection, red blood cells (erythrocytes) that carry oxygen, and platelets (thrombocytes) that are involved in blood clotting. In acute myeloid leukemia, the bone marrow makes large numbers of abnormal, immature white blood cells called myeloid blasts. Instead of developing into normal white blood cells, the myeloid blasts develop into cancerous leukemia cells. The large number of abnormal cells in the bone marrow interferes with the production of functional white blood cells, red blood cells, and platelets.  People with CBF-AML have a shortage of all types of mature blood cells: a shortage of white blood cells (leukopenia) leads to increased susceptibility to infections, a low number of red blood cells (anemia) causes fatigue and weakness, and a reduction in the amount of platelets (thrombocytopenia) can result in easy bruising and abnormal bleeding. Other symptoms of CBF-AML may include fever and weight loss.  While acute myeloid leukemia is generally a disease of older adults, CBF-AML often begins in young adulthood and can occur in childhood. Compared to other forms of acute myeloid leukemia, CBF-AML has a relatively good prognosis: about 90 percent of individuals with CBF-AML recover from their disease following treatment, compared with 25 to 40 percent of those with other forms of acute myeloid leukemia. However, the disease recurs in approximately half of them after successful treatment of the initial occurrence. + GHR + core binding factor acute myeloid leukemia
How many people are affected by core binding factor acute myeloid leukemia ?
Acute myeloid leukemia occurs in approximately 3.5 per 100,000 individuals each year. CBF-AML accounts for 12 to 15 percent of acute myeloid leukemia cases in adults. + GHR + core binding factor acute myeloid leukemia
What are the genetic changes related to core binding factor acute myeloid leukemia ?
CBF-AML is associated with chromosomal rearrangements between chromosomes 8 and 21 and within chromosome 16. The rearrangements involve the RUNX1, RUNX1T1, CBFB, and MYH11 genes. Two of these genes, RUNX1 and CBFB, provide instructions for making the two pieces of a protein complex known as core binding factor (CBF). CBF attaches to certain regions of DNA and turns on genes that help control the development of blood cells (hematopoiesis). In particular, it plays an important role in development of hematopoietic stem cells. Chromosomal rearrangements involving the RUNX1 or CBFB gene alter CBF, leading to leukemia.  In CBF-AML, the RUNX1 gene is affected by a type of genetic rearrangement known as a translocation; in this type of change, pieces of DNA from two chromosomes break off and are interchanged. The most common translocation in this condition, called t(8;21), fuses a part of the RUNX1 gene on chromosome 21 with part of the RUNX1T1 gene (also known as ETO) on chromosome 8. The combination of these genes leads to production of the RUNX1-ETO fusion protein. This fusion protein is able to form CBF and attach to DNA, like the normal RUNX1 protein. However, because the function of the protein produced from the normal RUNX1T1 gene is to block gene activity, the abnormal CBF turns genes off instead of turning them on.  Other genetic rearrangements associated with CBF-AML alter the CBFB gene. One such rearrangement, called an inversion, involves breakage of a chromosome in two places; the resulting piece of DNA is reversed and reinserted into the chromosome. The inversion involved in CBF-AML (written as inv(16)) leads to the fusion of two genes on chromosome 16, CBFB and MYH11. Less commonly, a translocation involving chromosome 16, written as t(16;16), leads to the fusion of the same two genes. The protein produced from these genetic rearrangements is called CBF-MYH11. The fusion protein can form CBF, but it is thought that the presence of the MYH11 portion of the fusion protein prevents CBF from binding to DNA, impairing its ability to control gene activity. Alternatively, the MYH11 portion may interact with other proteins that prevent CBF from controlling gene activity.  The change in gene activity caused by alteration of CBF blocks the maturation (differentiation) of blood cells and leads to the production of abnormal myeloid blasts. However, a chromosomal rearrangement alone is usually not enough to cause leukemia; one or more additional genetic changes are needed for cancer to develop. The additional changes likely cause the immature cells to grow and divide uncontrollably, leading to the excess of myeloid blasts characteristic of CBF-AML. + GHR + core binding factor acute myeloid leukemia
Is core binding factor acute myeloid leukemia inherited ?
CBF-AML is not inherited but arises from genetic rearrangements in the body's cells that occur after conception. + GHR + core binding factor acute myeloid leukemia
What are the treatments for core binding factor acute myeloid leukemia ?
These resources address the diagnosis or management of core binding factor acute myeloid leukemia:  - Fred Hutchinson Cancer Research Center  - Genetic Testing Registry: Acute myeloid leukemia  - National Cancer Institute: Acute Myeloid Leukemia Treatment  - St. Jude Children's Research Hospital   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 + core binding factor acute myeloid leukemia
What is (are) gnathodiaphyseal dysplasia ?
Gnathodiaphyseal dysplasia is a disorder that affects the bones. People with this condition have reduced bone mineral density (osteopenia), which causes the bones to be unusually fragile. As a result, affected individuals typically experience multiple bone fractures in childhood, often from mild trauma or with no apparent cause.  While most bone tissue is less dense than normal in gnathodiaphyseal dysplasia, the outer layer (cortex) of the shafts of the long bones in the arms and legs is abnormally hard and thick (diaphyseal sclerosis). Bowing of the long bones also occurs in this disorder.  Jaw problems are common in gnathodiaphyseal dysplasia; the prefix "gnatho-" in the condition name refers to the jaw. Affected individuals may develop bone infections (osteomyelitis) in the jaw, which can lead to pain, swelling, discharge of pus from the gums, loose teeth, and slow healing after teeth are lost or extracted. Areas of the jawbone may lose the protective coverage of the gums, which can result in deterioration of the exposed bone (osteonecrosis of the jaw). Also, normal bone in areas of the jaw may be replaced by fibrous tissue and a hard material called cementum, which normally surrounds the roots of teeth and anchors them in the jaw. These areas of abnormal bone, called cementoosseous lesions, may be present at birth or develop later in life.  When gnathodiaphyseal dysplasia was first described, it was thought to be a variation of another bone disorder called osteogenesis imperfecta, which is also characterized by frequent bone fractures. However, gnathodiaphyseal dysplasia is now generally considered to be a separate condition. Unlike in osteogenesis imperfecta, the fractures in gnathodiaphyseal dysplasia heal normally without causing deformity or loss of height. + GHR + gnathodiaphyseal dysplasia
How many people are affected by gnathodiaphyseal dysplasia ?
The prevalence of gnathodiaphyseal dysplasia is unknown, but it is thought to be a rare disorder. A few affected individuals and families have been described in the medical literature. + GHR + gnathodiaphyseal dysplasia
What are the genetic changes related to gnathodiaphyseal dysplasia ?
Gnathodiaphyseal dysplasia is caused by mutations in the ANO5 gene, which provides instructions for making a protein called anoctamin-5. While the specific function of this protein is not well understood, it belongs to a family of proteins, called anoctamins, that act as chloride channels. Studies suggest that most anoctamin channels are turned on (activated) in the presence of positively charged calcium atoms (calcium ions); these channels are known as calcium-activated chloride channels. The mechanism for this calcium activation is unclear.  The ANO5 gene mutations that have been identified in people with gnathodiaphyseal dysplasia change single protein building blocks (amino acids) in the anoctamin-5 protein. It is unclear how these protein changes lead to the fragile bones, jaw problems, and other skeletal abnormalities that occur in gnathodiaphyseal dysplasia. Researchers suggest that the mutations may affect the way cells process calcium, an important mineral in bone development and growth. + GHR + gnathodiaphyseal dysplasia
Is gnathodiaphyseal dysplasia 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 some cases, an affected person inherits the mutation from one affected parent. Other cases result from new mutations in the gene and occur in people with no history of the disorder in their family. + GHR + gnathodiaphyseal dysplasia
What are the treatments for gnathodiaphyseal dysplasia ?
These resources address the diagnosis or management of gnathodiaphyseal dysplasia:  - Cleveland Clinic: Osteomyelitis  - MedlinePlus Encyclopedia: Bone Mineral Density Testing   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 + gnathodiaphyseal dysplasia
What is (are) Adams-Oliver syndrome ?
Adams-Oliver syndrome is a rare condition that is present at birth. The primary features are an abnormality in skin development (called aplasia cutis congenita) and malformations of the limbs. A variety of other features can occur in people with Adams-Oliver syndrome.  Most people with Adams-Oliver syndrome have aplasia cutis congenita, a condition characterized by localized areas of missing skin typically occurring on the top of the head (the skull vertex). In some cases, the bone under the skin is also underdeveloped. Individuals with this condition commonly have scarring and an absence of hair growth in the affected area.  Abnormalities of the hands and feet are also common in people with Adams-Oliver syndrome. These most often involve the fingers and toes and can include abnormal nails, fingers or toes that are fused together (syndactyly), and abnormally short or missing fingers or toes (brachydactyly or oligodactyly). In some cases, other bones in the hands, feet, or lower limbs are malformed or missing.  Some affected infants have a condition called cutis marmorata telangiectatica congenita. This disorder of the blood vessels causes a reddish or purplish net-like pattern on the skin. In addition, people with Adams-Oliver syndrome can develop high blood pressure in the blood vessels between the heart and the lungs (pulmonary hypertension), which can be life-threatening. Other blood vessel problems and heart defects can occur in affected individuals.  In some cases, people with Adams-Oliver syndrome have neurological problems, such as developmental delay, learning disabilities, or abnormalities in the structure of the brain. + GHR + Adams-Oliver syndrome
How many people are affected by Adams-Oliver syndrome ?
Adams-Oliver syndrome is a rare disorder; its prevalence is unknown. + GHR + Adams-Oliver syndrome
Is Adams-Oliver syndrome inherited ?
Adams-Oliver syndrome can have different inheritance patterns. When caused by mutations in the ARHGAP31, DLL4, NOTCH1, or RBPJ gene, the condition is inherited in an autosomal dominant pattern. Autosomal dominant inheritance means that one copy of the altered gene in each cell is sufficient to cause the disorder. The altered gene is typically inherited from an affected parent. Some cases associated with NOTCH1 gene mutations result from new (de novo) mutations in the gene that occur during the formation of reproductive cells (eggs or sperm) or in early embryonic development. These cases occur in people with no history of the disorder in their family.  When caused by mutations in the DOCK6 or EOGT gene, Adams-Oliver syndrome is inherited in an autosomal recessive pattern. In conditions with this pattern of inheritance, 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 + Adams-Oliver syndrome
What are the treatments for Adams-Oliver syndrome ?
These resources address the diagnosis or management of Adams-Oliver syndrome:  - Contact a Family  - Gene Review: Gene Review: Adams-Oliver Syndrome  - Genetic Testing Registry: Adams-Oliver syndrome  - Genetic Testing Registry: Adams-Oliver syndrome 5  - Genetic Testing Registry: Adams-Oliver syndrome 6   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 + Adams-Oliver syndrome
What is (are) Beckwith-Wiedemann syndrome ?
Beckwith-Wiedemann syndrome is a condition that affects many parts of the body. It is classified as an overgrowth syndrome, which means that affected infants are considerably larger than normal (macrosomia) and tend to be taller than their peers during childhood. Growth begins to slow by about age 8, and adults with this condition are not unusually tall. In some children with Beckwith-Wiedemann syndrome, specific parts of the body on one side or the other may grow abnormally large, leading to an asymmetric or uneven appearance. This unusual growth pattern, which is known as hemihyperplasia, usually becomes less apparent over time.  The signs and symptoms of Beckwith-Wiedemann syndrome vary among affected individuals. Some children with this condition are born with an opening in the wall of the abdomen (an omphalocele) that allows the abdominal organs to protrude through the belly-button. Other abdominal wall defects, such as a soft out-pouching around the belly-button (an umbilical hernia), are also common. Some infants with Beckwith-Wiedemann syndrome have an abnormally large tongue (macroglossia), which may interfere with breathing, swallowing, and speaking. Other major features of this condition include abnormally large abdominal organs (visceromegaly), creases or pits in the skin near the ears, low blood sugar (hypoglycemia) in infancy, and kidney abnormalities.  Children with Beckwith-Wiedemann syndrome are at an increased risk of developing several types of cancerous and noncancerous tumors, particularly a form of kidney cancer called Wilms tumor and a form of liver cancer called hepatoblastoma. Tumors develop in about 10 percent of people with this condition and almost always appear in childhood.  Most children and adults with Beckwith-Wiedemann syndrome do not have serious medical problems associated with the condition. Their life expectancy is usually normal. + GHR + Beckwith-Wiedemann syndrome
How many people are affected by Beckwith-Wiedemann syndrome ?
Beckwith-Wiedemann syndrome affects an estimated 1 in 13,700 newborns worldwide. The condition may actually be more common than this estimate because some people with mild symptoms are never diagnosed. + GHR + Beckwith-Wiedemann syndrome