fenil210/Med-Lamma huggingface dataset:
What is (are) metatropic dysplasia ?
Metatropic dysplasia is a skeletal disorder characterized by short stature (dwarfism) with other skeletal abnormalities. The term "metatropic" is derived from the Greek word "metatropos," which means "changing patterns." This name reflects the fact that the skeletal abnormalities associated with the condition change over time.  Affected infants are born with a narrow chest and unusually short arms and legs with dumbbell-shaped long bones. Beginning in early childhood, people with this condition develop abnormal side-to-side and front-to-back curvature of the spine (scoliosis and kyphosis, often called kyphoscoliosis when they occur together). The curvature worsens with time and tends to be resistant to treatment. Because of the severe kyphoscoliosis, affected individuals may ultimately have a very short torso in relation to the length of their arms and legs.  Some people with metatropic dysplasia are born with an elongated tailbone known as a coccygeal tail; it is made of a tough but flexible tissue called cartilage. The coccygeal tail usually shrinks over time. Other skeletal problems associated with metatropic dysplasia include flattened bones of the spine (platyspondyly); excessive movement of spinal bones in the neck that can damage the spinal cord; either a sunken chest (pectus excavatum) or a protruding chest (pectus carinatum); and joint deformities called contractures that restrict the movement of joints in the shoulders, elbows, hips, and knees. Beginning early in life, affected individuals can also develop a degenerative form of arthritis that causes joint pain and further restricts movement.  The signs and symptoms of metatropic dysplasia can vary from relatively mild to life-threatening. In the most severe cases, the narrow chest and spinal abnormalities prevent the lungs from expanding fully, which restricts breathing. Researchers formerly recognized several distinct forms of metatropic dysplasia based on the severity of the condition's features. The forms included a mild type, a classic type, and a lethal type. However, all of these forms are now considered to be part of a single condition with a spectrum of overlapping signs and symptoms. + GHR + metatropic dysplasia
How many people are affected by metatropic dysplasia ?
Metatropic dysplasia is a rare disease; its exact prevalence is unknown. More than 80 affected individuals have been reported in the scientific literature. + GHR + metatropic dysplasia
What are the genetic changes related to metatropic dysplasia ?
Metatropic dysplasia is caused by mutations in the TRPV4 gene, which provides instructions for making a protein that acts as a calcium channel. The TRPV4 channel transports positively charged calcium atoms (calcium ions) across cell membranes and into cells. The channel is found in many types of cells, but little is known about its function. Studies suggest that it plays a role in the normal development of cartilage and bone. This role would help explain why TRPV4 gene mutations cause the skeletal abnormalities characteristic of metatropic dysplasia. Mutations in the TRPV4 gene appear to overactivate the channel, increasing the flow of calcium ions into cells. However, it remains unclear how changes in the activity of the calcium channel lead to the specific features of the condition. + GHR + metatropic dysplasia
Is metatropic dysplasia inherited ?
Metatropic dysplasia is considered an autosomal dominant disorder because one mutated copy of the TRPV4 gene in each cell is sufficient to cause the condition. Most cases of metatropic dysplasia are caused by new mutations in the gene and occur 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.  In the past, it was thought that the lethal type of metatropic dysplasia had an autosomal recessive pattern of inheritance, in which both copies of the gene in each cell have mutations. However, more recent research has confirmed that all metatropic dysplasia has an autosomal dominant pattern of inheritance. + GHR + metatropic dysplasia
What are the treatments for metatropic dysplasia ?
These resources address the diagnosis or management of metatropic dysplasia:  - Gene Review: Gene Review: TRPV4-Associated Disorders  - Genetic Testing Registry: Metatrophic dysplasia   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 + metatropic dysplasia
What is (are) Weaver syndrome ?
Weaver syndrome is a condition that involves tall stature with or without a large head size (macrocephaly), a variable degree of intellectual disability (usually mild), and characteristic facial features. These features can include a broad forehead; widely spaced eyes (hypertelorism); large, low-set ears; a dimpled chin, and a small lower jaw (micrognathia).  People with Weaver syndrome can also have joint deformities called contractures that restrict the movement of affected joints. The contractures may particularly affect the fingers and toes, resulting in permanently bent digits (camptodactyly). Other features of this disorder can include abnormal curvature of the spine (kyphoscoliosis); muscle tone that is either reduced (hypotonia) or increased (hypertonia); loose, saggy skin; and a soft-outpouching around the belly-button (umbilical hernia). Some affected individuals have abnormalities in the folds (gyri) of the brain, which can be seen by medical imaging; the relationship between these brain abnormalities and the intellectual disability associated with Weaver syndrome is unclear.  Researchers suggest that people with Weaver syndrome may have an increased risk of developing cancer, in particular a slightly increased risk of developing a tumor called neuroblastoma in early childhood, but the small number of affected individuals makes it difficult to determine the exact risk. + GHR + Weaver syndrome
How many people are affected by Weaver syndrome ?
The prevalence of Weaver syndrome is unknown. About 50 affected individuals have been described in the medical literature. + GHR + Weaver syndrome
What are the genetic changes related to Weaver syndrome ?
Weaver syndrome is usually caused by mutations in the EZH2 gene. The EZH2 gene provides instructions for making a type of enzyme called a histone methyltransferase. Histone methyltransferases modify proteins called histones, which are structural proteins that attach (bind) to DNA and give chromosomes their shape. By adding a molecule called a methyl group to histones (methylation), histone methyltransferases can turn off the activity of certain genes, which is an essential process in normal development. It is unclear how mutations in the EZH2 gene result in the abnormalities characteristic of Weaver syndrome. + GHR + Weaver syndrome
Is Weaver 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. Most cases result from new mutations in the gene and occur in people with no history of the disorder in their family. In a small number of cases, an affected person inherits the mutation from one affected parent. + GHR + Weaver syndrome
What are the treatments for Weaver syndrome ?
These resources address the diagnosis or management of Weaver syndrome:  - Genetic Testing Registry: Weaver 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 + Weaver syndrome
What is (are) hereditary neuralgic amyotrophy ?
Hereditary neuralgic amyotrophy is a disorder characterized by episodes of severe pain and muscle wasting (amyotrophy) in one or both shoulders and arms. Neuralgic pain is felt along the path of one or more nerves and often has no obvious physical cause. The network of nerves involved in hereditary neuralgic amyotrophy, called the brachial plexus, controls movement and sensation in the shoulders and arms.  People with hereditary neuralgic amyotrophy usually begin experiencing attacks in their twenties, but episodes have occurred as early as the age of 1 year in some individuals. The attacks may be spontaneous or triggered by stress such as strenuous exercise, childbirth, surgery, exposure to cold, infections, immunizations, or emotional disturbance. While the frequency of the episodes tends to decrease with age, affected individuals are often left with residual problems, such as chronic pain and impaired movement, that accumulate over time.  Typically an attack begins with severe pain on one or both sides of the body; right-sided involvement is most common. The pain may be difficult to control with medication and usually lasts about a month. Within a period of time ranging from a few hours to a couple of weeks, the muscles in the affected area begin to weaken and waste away (atrophy), and movement becomes difficult. Muscle wasting may cause changes in posture or in the appearance of the shoulder, back, and arm. In particular, weak shoulder muscles tend to make the shoulder blades (scapulae) "stick out" from the back, a common sign known as scapular winging. Additional features of hereditary neuralgic amyotrophy may include decreased sensation (hypoesthesia) and abnormal sensations in the skin such as numbness or tingling (paresthesias). Areas other than the shoulder and arm may also be involved.  In a few affected families, individuals with hereditary neuralgic amyotrophy also have unusual physical characteristics including short stature, excess skin folds on the neck and arms, an opening in the roof of the mouth (cleft palate), a split in the soft flap of tissue that hangs from the back of the mouth (bifid uvula), and partially webbed or fused fingers or toes (partial syndactyly). They may also have distinctive facial features including eyes set close together (ocular hypotelorism), a narrow opening of the eyelids (short palpebral fissures) with a skin fold covering the inner corner of the eye (epicanthal fold), a long nasal bridge, a narrow mouth, and differences between one side of the face and the other (facial asymmetry). + GHR + hereditary neuralgic amyotrophy
How many people are affected by hereditary neuralgic amyotrophy ?
Hereditary neuralgic amyotrophy is a rare disorder, but its specific prevalence is unknown. Approximately 200 families affected by the disorder have been identified worldwide. + GHR + hereditary neuralgic amyotrophy
What are the genetic changes related to hereditary neuralgic amyotrophy ?
Mutations in the SEPT9 gene cause hereditary neuralgic amyotrophy. The SEPT9 gene provides instructions for making a protein called septin-9, which is part of a group of proteins called septins. Septins are involved in a process called cytokinesis, which is the step in cell division when the fluid inside the cell (cytoplasm) divides to form two separate cells.  The SEPT9 gene seems to be turned on (active) in cells throughout the body. Approximately 15 slightly different versions (isoforms) of the septin-9 protein may be produced from this gene. Some types of cells make certain isoforms, while other cell types produce other isoforms. However, the specific distribution of these isoforms in the body's tissues is not well understood. Septin-9 isoforms interact with other septin proteins to perform some of their functions.  Mutations in the SEPT9 gene may change the sequence of protein building blocks (amino acids) in certain septin-9 isoforms in ways that interfere with their function. These mutations may also change the distribution of septin-9 isoforms and their interactions with other septin proteins in some of the body's tissues. This change in the functioning of septin proteins seems to particularly affect the brachial plexus, but the reason for this is unknown.  Because many of the triggers for hereditary neuralgic amyotrophy also affect the immune system, researchers believe that an autoimmune reaction may be involved in this disorder. However, the relation between SEPT9 mutations and immune function is unclear. Autoimmune disorders occur when the immune system malfunctions and attacks the body's own tissues and organs. An autoimmune attack on the nerves in the brachial plexus likely results in the signs and symptoms of hereditary neuralgic amyotrophy.  At least 15 percent of families affected by hereditary neuralgic amyotrophy do not have SEPT9 gene mutations. In these cases, the disorder is believed to be caused by mutations in a gene that has not been identified. + GHR + hereditary neuralgic amyotrophy
Is hereditary neuralgic amyotrophy 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. + GHR + hereditary neuralgic amyotrophy
What are the treatments for hereditary neuralgic amyotrophy ?
These resources address the diagnosis or management of hereditary neuralgic amyotrophy:  - Gene Review: Gene Review: Hereditary Neuralgic Amyotrophy  - Genetic Testing Registry: Hereditary neuralgic amyotrophy   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 + hereditary neuralgic amyotrophy
What is (are) psoriatic arthritis ?
Psoriatic arthritis is a condition involving joint inflammation (arthritis) that usually occurs in combination with a skin disorder called psoriasis. Psoriasis is a chronic inflammatory condition characterized by patches of red, irritated skin that are often covered by flaky white scales. People with psoriasis may also have changes in their fingernails and toenails, such as nails that become pitted or ridged, crumble, or separate from the nail beds.  Signs and symptoms of psoriatic arthritis include stiff, painful joints with redness, heat, and swelling in the surrounding tissues. When the hands and feet are affected, swelling and redness may result in a "sausage-like" appearance of the fingers or toes (dactylitis).  In most people with psoriatic arthritis, psoriasis appears before joint problems develop. Psoriasis typically begins during adolescence or young adulthood, and psoriatic arthritis usually occurs between the ages of 30 and 50. However, both conditions may occur at any age. In a small number of cases, psoriatic arthritis develops in the absence of noticeable skin changes.  Psoriatic arthritis may be difficult to distinguish from other forms of arthritis, particularly when skin changes are minimal or absent. Nail changes and dactylitis are two features that are characteristic of psoriatic arthritis, although they do not occur in all cases.  Psoriatic arthritis is categorized into five types: distal interphalangeal predominant, asymmetric oligoarticular, symmetric polyarthritis, spondylitis, and arthritis mutilans.  The distal interphalangeal predominant type affects mainly the ends of the fingers and toes. The distal interphalangeal joints are those closest to the nails. Nail changes are especially frequent with this form of psoriatic arthritis.  The asymmetric oligoarticular and symmetric polyarthritis types are the most common forms of psoriatic arthritis. The asymmetric oligoarticular type of psoriatic arthritis involves different joints on each side of the body, while the symmetric polyarthritis form affects the same joints on each side. Any joint in the body may be affected in these forms of the disorder, and symptoms range from mild to severe.  Some individuals with psoriatic arthritis have joint involvement that primarily involves spondylitis, which is inflammation in the joints between the vertebrae in the spine. Symptoms of this form of the disorder involve pain and stiffness in the back or neck, and movement is often impaired. Joints in the arms, legs, hands, and feet may also be involved.  The most severe and least common type of psoriatic arthritis is called arthritis mutilans. Fewer than 5 percent of individuals with psoriatic arthritis have this form of the disorder. Arthritis mutilans involves severe inflammation that damages the joints in the hands and feet, resulting in deformation and movement problems. Bone loss (osteolysis) at the joints may lead to shortening (telescoping) of the fingers and toes. Neck and back pain may also occur. + GHR + psoriatic arthritis
How many people are affected by psoriatic arthritis ?
Psoriatic arthritis affects an estimated 24 in 10,000 people.  Between 5 and 10 percent of people with psoriasis develop psoriatic arthritis, according to most estimates. Some studies suggest a figure as high as 30 percent. Psoriasis itself is a common disorder, affecting approximately 2 to 3 percent of the population worldwide. + GHR + psoriatic arthritis
What are the genetic changes related to psoriatic arthritis ?
The specific cause of psoriatic arthritis is unknown. Its signs and symptoms result from excessive inflammation in and around the joints. Inflammation occurs when the immune system sends signaling molecules and white blood cells to a site of injury or disease to fight microbial invaders and facilitate tissue repair. When this has been accomplished, the body ordinarily stops the inflammatory response to prevent damage to its own cells and tissues. Mechanical stress on the joints, such as occurs in movement, may result in an excessive inflammatory response in people with psoriatic arthritis. The reasons for this excessive inflammatory response are unclear.  Researchers have identified changes in several genes that may influence the risk of developing psoriatic arthritis. The most well-studied of these genes belong to a family of genes called the human leukocyte antigen (HLA) complex. The HLA complex helps the immune system distinguish the body's own proteins from proteins made by foreign invaders (such as viruses and bacteria). Each HLA gene has many different normal variations, allowing each person's immune system to react to a wide range of foreign proteins. Variations of several HLA genes seem to affect the risk of developing psoriatic arthritis, as well as the type, severity, and progression of the condition.  Variations in several other genes have also been associated with psoriatic arthritis. Many of these genes are thought to play roles in immune system function. However, variations in these genes probably make only a small contribution to the overall risk of developing psoriatic arthritis. Other genetic and environmental factors are also likely to influence a person's chances of developing this disorder. + GHR + psoriatic arthritis
Is psoriatic arthritis inherited ?
This condition has an unknown inheritance pattern. Approximately 40 percent of affected individuals have at least one close family member with psoriasis or psoriatic arthritis. + GHR + psoriatic arthritis
What are the treatments for psoriatic arthritis ?
These resources address the diagnosis or management of psoriatic arthritis:  - American Society for Surgery of the Hand  - Genetic Testing Registry: Psoriatic arthritis, susceptibility to  - The Johns Hopkins Arthritis Center   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 + psoriatic arthritis
What is (are) beta-ureidopropionase deficiency ?
Beta-ureidopropionase deficiency is a disorder that causes excessive amounts of molecules called N-carbamyl-beta-aminoisobutyric acid and N-carbamyl-beta-alanine to be released in the urine. Neurological problems ranging from mild to severe also occur in some affected individuals.  People with beta-ureidopropionase deficiency can have low muscle tone (hypotonia), seizures, speech difficulties, developmental delay, intellectual disability, and autistic behaviors that affect communication and social interaction. Some people with this condition have an abnormally small head size (microcephaly); they may also have brain abnormalities that can be seen with medical imaging. Deterioration of the optic nerve, which carries visual information from the eyes to the brain, can lead to vision loss in this condition.  In some people with beta-ureidopropionase deficiency, the disease causes no neurological problems and can only be diagnosed by laboratory testing. + GHR + beta-ureidopropionase deficiency
How many people are affected by beta-ureidopropionase deficiency ?
The prevalence of beta-ureidopropionase deficiency is unknown. A small number of affected individuals from populations around the world have been described in the medical literature. In Japan, the prevalence of beta-ureidopropionase deficiency has been estimated as 1 in 6,000 people. Researchers suggest that in many affected individuals with absent or mild neurological problems, the condition may never be diagnosed. + GHR + beta-ureidopropionase deficiency
What are the genetic changes related to beta-ureidopropionase deficiency ?
Beta-ureidopropionase deficiency is caused by mutations in the UPB1 gene, which provides instructions for making an enzyme called beta-ureidopropionase. This enzyme is involved in the breakdown of molecules called pyrimidines, which are building blocks of DNA and its chemical cousin RNA.  The beta-ureidopropionase enzyme is involved in the last step of the process that breaks down pyrimidines. This step converts N-carbamyl-beta-aminoisobutyric acid to beta-aminoisobutyric acid and also breaks down N-carbamyl-beta-alanine to beta-alanine, ammonia, and carbon dioxide. Both beta-aminoisobutyric acid and beta-alanine are thought to play roles in the nervous system. Beta-aminoisobutyric acid increases the production of a protein called leptin, which has been found to help protect brain cells from damage caused by toxins, inflammation, and other factors. Research suggests that beta-alanine is involved in sending signals between nerve cells (synaptic transmission) and in controlling the level of a chemical messenger (neurotransmitter) called dopamine.  UPB1 gene mutations can reduce or eliminate beta-ureidopropionase enzyme activity. Loss of this enzyme function reduces the production of beta-aminoisobutyric acid and beta-alanine, and leads to an excess of their precursor molecules, N-carbamyl-beta-aminoisobutyric acid and N-carbamyl-beta-alanine, which are released in the urine. Reduced production of beta-aminoisobutyric acid and beta-alanine may impair the function of these molecules in the nervous system, leading to neurological problems in some people with beta-ureidopropionase deficiency. The extent of the reduction in enzyme activity caused by a particular UPB1 gene mutation, along with other genetic and environmental factors, may determine whether people with beta-ureidopropionase deficiency develop neurological problems and the severity of these problems. + GHR + beta-ureidopropionase deficiency
Is beta-ureidopropionase 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. + GHR + beta-ureidopropionase deficiency
What are the treatments for beta-ureidopropionase deficiency ?
These resources address the diagnosis or management of beta-ureidopropionase deficiency:  - Genetic Testing Registry: Deficiency of beta-ureidopropionase   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 + beta-ureidopropionase deficiency