fenil210/Med-Lamma huggingface dataset:
How many people are affected by phosphoribosylpyrophosphate synthetase superactivity ?
PRS superactivity is believed to be a rare disorder. Approximately 30 families with the condition have been reported. More than two thirds of these families are affected by the milder form of the disease. + GHR + phosphoribosylpyrophosphate synthetase superactivity
What are the genetic changes related to phosphoribosylpyrophosphate synthetase superactivity ?
Certain mutations in the PRPS1 gene cause PRS superactivity. The PRPS1 gene provides instructions for making an enzyme called phosphoribosyl pyrophosphate synthetase 1, or PRPP synthetase 1. This enzyme helps produce a molecule called phosphoribosyl pyrophosphate (PRPP). PRPP is involved in producing purine and pyrimidine nucleotides. These nucleotides are building blocks of DNA, its chemical cousin RNA, and molecules such as ATP and GTP that serve as energy sources in the cell. PRPP synthetase 1 and PRPP also play a key role in recycling purines from the breakdown of DNA and RNA, a faster and more efficient way of making purines available.  In people with the more severe form of PRS superactivity, PRPS1 gene mutations change single protein building blocks (amino acids) in the PRPP synthetase 1 enzyme, resulting in a poorly regulated, overactive enzyme. In the milder form of PRS superactivity, the PRPS1 gene is overactive for reasons that are not well understood. PRPS1 gene overactivity increases the production of normal PRPP synthetase 1 enzyme, which increases the availability of PRPP. In both forms of the disorder, excessive amounts of purines are generated.  Under these conditions, uric acid, a waste product of purine breakdown, accumulates in the body. A buildup of uric acid crystals can cause gout, kidney stones, and bladder stones. It is unclear how PRPS1 gene mutations are related to the neurological problems associated with the severe form of PRS superactivity. + GHR + phosphoribosylpyrophosphate synthetase superactivity
Is phosphoribosylpyrophosphate synthetase superactivity inherited ?
This condition is inherited in an X-linked pattern. The gene associated with this condition is located on the X chromosome, which is one of the two sex chromosomes. In males (who have only one X chromosome), a mutation in the only copy of the gene in each cell causes the disorder. In females (who have two X chromosomes), a mutation in one of the two copies of the gene in each cell sometimes causes the disorder.  In most reported cases, affected individuals have inherited the mutation from a parent who carries an altered copy of the PRPS1 gene. A characteristic of X-linked inheritance is that fathers cannot pass X-linked traits to their sons. PRS superactivity may also result from new mutations in the PRPS1 gene and can occur in people with no history of the disorder in their family. + GHR + phosphoribosylpyrophosphate synthetase superactivity
What are the treatments for phosphoribosylpyrophosphate synthetase superactivity ?
These resources address the diagnosis or management of PRS superactivity:  - Gene Review: Gene Review: Phosphoribosylpyrophosphate Synthetase Superactivity  - Genetic Testing Registry: Phosphoribosylpyrophosphate synthetase superactivity  - MedlinePlus Encyclopedia: Hearing Loss  - MedlinePlus Encyclopedia: Movement, Uncoordinated   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 + phosphoribosylpyrophosphate synthetase superactivity
What is (are) short stature, hyperextensibility, hernia, ocular depression, Rieger anomaly, and teething delay ?
Short stature, hyperextensibility, hernia, ocular depression, Rieger anomaly, and teething delay, commonly known by the acronym SHORT syndrome, is a rare disorder that affects many parts of the body.  Most people with SHORT syndrome are small at birth and gain weight slowly in childhood. Affected adults tend to have short stature compared with others in their family. Many have a lack of fatty tissue under the skin (lipoatrophy), primarily in the face, arms, and chest. This lack of fat, together with thin, wrinkled skin and veins visible beneath the skin, makes affected individuals look older than their biological age. This appearance of premature aging is sometimes described as progeroid.  Most people with SHORT syndrome have distinctive facial features. These include a triangular face shape with a prominent forehead and deep-set eyes (ocular depression), thin nostrils, a downturned mouth, and a small chin. Eye abnormalities are common in affected individuals, particularly Rieger anomaly, which affects structures at the front of the eye. Rieger anomaly can be associated with increased pressure in the eye (glaucoma) and vision loss. Some people with SHORT syndrome also have dental abnormalities such as delayed appearance (eruption) of teeth in early childhood, small teeth, fewer teeth than normal (hypodontia), and a lack of protective covering (enamel) on the surface of the teeth.  Other signs and symptoms that have been reported in people with SHORT syndrome include immune system abnormalities, a kidney disorder known as nephrocalcinosis, hearing loss, loose (hyperextensible) joints, and a soft out-pouching in the lower abdomen called an inguinal hernia. A few affected individuals have developed problems with blood sugar regulation including insulin resistance and diabetes. Most people with SHORT syndrome have normal intelligence, although a few have been reported with mild cognitive impairment or delayed development of speech in childhood. + GHR + short stature, hyperextensibility, hernia, ocular depression, Rieger anomaly, and teething delay
How many people are affected by short stature, hyperextensibility, hernia, ocular depression, Rieger anomaly, and teething delay ?
SHORT syndrome is a rare condition; its prevalence is unknown. Only a few affected individuals and families have been reported worldwide. + GHR + short stature, hyperextensibility, hernia, ocular depression, Rieger anomaly, and teething delay
What are the genetic changes related to short stature, hyperextensibility, hernia, ocular depression, Rieger anomaly, and teething delay ?
SHORT syndrome results from mutations in the PIK3R1 gene. This gene provides instructions for making one part (subunit) of an enzyme called PI3K, which plays a role in chemical signaling within cells. PI3K signaling is important for many cell activities, including cell growth and division, movement (migration) of cells, production of new proteins, transport of materials within cells, and cell survival. Studies suggest that PI3K signaling may be involved in the regulation of several hormones, including insulin, which helps control blood sugar levels. PI3K signaling may also play a role in the maturation of fat cells (adipocytes).  Mutations in the PIK3R1 gene alter the structure of the subunit, which reduces the ability of PI3K to participate in cell signaling. Researchers are working to determine how these changes lead to the specific features of SHORT syndrome. PI3K's role in insulin activity may be related to the development of insulin resistance and diabetes, and problems with adipocyte maturation might contribute to lipoatrophy in affected individuals. It is unclear how reduced PI3K signaling is associated with the other features of the condition. + GHR + short stature, hyperextensibility, hernia, ocular depression, Rieger anomaly, and teething delay
Is short stature, hyperextensibility, hernia, ocular depression, Rieger anomaly, and teething delay inherited ?
SHORT syndrome has an autosomal dominant pattern of inheritance, which means one copy of the altered PIK3R1 gene in each cell is sufficient to cause the disorder. In most cases, the condition results from a new mutation in the gene and occurs in people with no history of the disorder in their family. In other cases, an affected person inherits the mutation from one affected parent. + GHR + short stature, hyperextensibility, hernia, ocular depression, Rieger anomaly, and teething delay
What are the treatments for short stature, hyperextensibility, hernia, ocular depression, Rieger anomaly, and teething delay ?
These resources address the diagnosis or management of SHORT syndrome:  - Gene Review: Gene Review: SHORT Syndrome  - Genetic Testing Registry: SHORT 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 + short stature, hyperextensibility, hernia, ocular depression, Rieger anomaly, and teething delay
What is (are) Ochoa syndrome ?
Ochoa syndrome is a disorder characterized by urinary problems and unusual facial expressions.  The urinary problems associated with Ochoa syndrome typically become apparent in early childhood or adolescence. People with this disorder may have difficulty controlling the flow of urine (incontinence), which can lead to bedwetting. Individuals with Ochoa syndrome may be unable to completely empty the bladder, often resulting in vesicoureteral reflux, a condition in which urine backs up into the ducts that normally carry it from each kidney to the bladder (the ureters). Urine may also accumulate in the kidneys (hydronephrosis). Vesicoureteral reflux and hydronephrosis can lead to frequent infections of the urinary tract and kidney inflammation (pyelonephritis), causing damage that may eventually result in kidney failure.  Individuals with Ochoa syndrome also exhibit a characteristic frown-like facial grimace when they try to smile or laugh, often described as inversion of facial expression. While this feature may appear earlier than the urinary tract symptoms, perhaps as early as an infant begins to smile, it is often not brought to medical attention.  Approximately two-thirds of individuals with Ochoa syndrome also experience problems with bowel function, such as constipation, loss of bowel control, or muscle spasms of the anus. + GHR + Ochoa syndrome
How many people are affected by Ochoa syndrome ?
Ochoa syndrome is a rare disorder. About 150 cases have been reported in the medical literature. + GHR + Ochoa syndrome
What are the genetic changes related to Ochoa syndrome ?
Ochoa syndrome can be caused by mutations in the HPSE2 gene. This gene provides instructions for making a protein called heparanase 2. The function of this protein is not well understood.  Mutations in the HPSE2 gene that cause Ochoa syndrome result in changes in the heparanase 2 protein that likely prevent it from functioning. The connection between HPSE2 gene mutations and the features of Ochoa syndrome are unclear. Because the areas of the brain that control facial expression and urination are in close proximity, some researchers have suggested that the genetic changes may lead to an abnormality in this brain region that may account for the symptoms of Ochoa syndrome. Other researchers believe that a defective heparanase 2 protein may lead to problems with the development of the urinary tract or with muscle function in the face and bladder.  Some people with Ochoa syndrome do not have mutations in the HPSE2 gene. In these individuals, the cause of the disorder is unknown. + GHR + Ochoa syndrome
Is Ochoa syndrome inherited ?
This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. + GHR + Ochoa syndrome
What are the treatments for Ochoa syndrome ?
These resources address the diagnosis or management of Ochoa syndrome:  - Gene Review: Gene Review: Urofacial Syndrome  - Genetic Testing Registry: Ochoa syndrome  - National Institute of Diabetes and Digestive and Kidney Diseases: Urodynamic Testing  - Scripps Health: Self-Catheterization -- Female  - Scripps Health: Self-Catheterization -- Male   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 + Ochoa syndrome
What is (are) Rubinstein-Taybi syndrome ?
Rubinstein-Taybi syndrome is a condition characterized by short stature, moderate to severe intellectual disability, distinctive facial features, and broad thumbs and first toes. Additional features of the disorder can include eye abnormalities, heart and kidney defects, dental problems, and obesity. These signs and symptoms vary among affected individuals. People with this condition have an increased risk of developing noncancerous and cancerous tumors, including certain kinds of brain tumors. Cancer of blood-forming tissue (leukemia) also occurs more frequently in people with Rubinstein-Taybi syndrome.  Rarely, Rubinstein-Taybi syndrome can involve serious complications such as a failure to gain weight and grow at the expected rate (failure to thrive) and life-threatening infections. Infants born with this severe form of the disorder usually survive only into early childhood. + GHR + Rubinstein-Taybi syndrome
How many people are affected by Rubinstein-Taybi syndrome ?
This condition is uncommon; it occurs in an estimated 1 in 100,000 to 125,000 newborns. + GHR + Rubinstein-Taybi syndrome
What are the genetic changes related to Rubinstein-Taybi syndrome ?
Mutations in the CREBBP gene are responsible for some cases of Rubinstein-Taybi syndrome. The CREBBP gene provides instructions for making a protein that helps control the activity of many other genes. This protein, called CREB binding protein, plays an important role in regulating cell growth and division and is essential for normal fetal development. If one copy of the CREBBP gene is deleted or mutated, cells make only half of the normal amount of CREB binding protein. Although a reduction in the amount of this protein disrupts normal development before and after birth, researchers have not determined how it leads to the specific signs and symptoms of Rubinstein-Taybi syndrome.  Mutations in the EP300 gene cause a small percentage of cases of Rubinstein-Taybi syndrome. Like the CREBBP gene, this gene provides instructions for making a protein that helps control the activity of other genes. It also appears to be important for development before and after birth. EP300 mutations inactivate one copy of the gene in each cell, which interferes with normal development and causes the typical features of Rubinstein-Taybi syndrome. The signs and symptoms of this disorder in people with EP300 mutations are similar to those with mutations in the CREBBP gene; however, studies suggest that EP300 mutations may be associated with milder skeletal changes in the hands and feet.  Some cases of severe Rubinstein-Taybi syndrome have resulted from a deletion of genetic material from the short (p) arm of chromosome 16. Several genes, including the CREBBP gene, are missing as a result of this deletion. Researchers believe that the loss of multiple genes in this region probably accounts for the serious complications associated with severe Rubinstein-Taybi syndrome.  About half of people with Rubinstein-Taybi syndrome do not have an identified mutation in the CREBBP or EP300 gene or a deletion in chromosome 16. The cause of the condition is unknown in these cases. Researchers predict that mutations in other genes are also responsible for the disorder. + GHR + Rubinstein-Taybi syndrome
Is Rubinstein-Taybi syndrome inherited ?
This condition is considered to have an autosomal dominant pattern of inheritance, 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. + GHR + Rubinstein-Taybi syndrome
What are the treatments for Rubinstein-Taybi syndrome ?
These resources address the diagnosis or management of Rubinstein-Taybi syndrome:  - Gene Review: Gene Review: Rubinstein-Taybi Syndrome  - Genetic Testing Registry: Rubinstein-Taybi syndrome  - MedlinePlus Encyclopedia: Rubinstein-Taybi 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 + Rubinstein-Taybi syndrome
What is (are) blepharophimosis, ptosis, and epicanthus inversus syndrome ?
Blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES) is a condition that mainly affects development of the eyelids. People with this condition have a narrowing of the eye opening (blepharophimosis), droopy eyelids (ptosis), and an upward fold of the skin of the lower eyelid near the inner corner of the eye (epicanthus inversus). In addition, there is an increased distance between the inner corners of the eyes (telecanthus). Because of these eyelid abnormalities, the eyelids cannot open fully, and vision may be limited.  Other structures in the eyes and face may be mildly affected by BPES. Affected individuals are at an increased risk of developing vision problems such as nearsightedness (myopia) or farsightedness (hyperopia) beginning in childhood. They may also have eyes that do not point in the same direction (strabismus) or "lazy eye" (amblyopia) affecting one or both eyes. People with BPES may also have distinctive facial features including a broad nasal bridge, low-set ears, or a shortened distance between the nose and upper lip (a short philtrum).  There are two types of BPES, which are distinguished by their signs and symptoms. Both types I and II include the eyelid malformations and other facial features. Type I is also associated with an early loss of ovarian function (primary ovarian insufficiency) in women, which causes their menstrual periods to become less frequent and eventually stop before age 40. Primary ovarian insufficiency can lead to difficulty conceiving a child (subfertility) or a complete inability to conceive (infertility). + GHR + blepharophimosis, ptosis, and epicanthus inversus syndrome
How many people are affected by blepharophimosis, ptosis, and epicanthus inversus syndrome ?
The prevalence of BPES is unknown. + GHR + blepharophimosis, ptosis, and epicanthus inversus syndrome
What are the genetic changes related to blepharophimosis, ptosis, and epicanthus inversus syndrome ?
Mutations in the FOXL2 gene cause BPES types I and II. The FOXL2 gene provides instructions for making a protein that is active in the eyelids and ovaries. The FOXL2 protein is likely involved in the development of muscles in the eyelids. Before birth and in adulthood, the protein regulates the growth and development of certain ovarian cells and the breakdown of specific molecules.  It is difficult to predict the type of BPES that will result from the many FOXL2 gene mutations. However, mutations that result in a partial loss of FOXL2 protein function generally cause BPES type II. These mutations probably impair regulation of normal development of muscles in the eyelids, resulting in malformed eyelids that cannot open fully. Mutations that lead to a complete loss of FOXL2 protein function often cause BPES type I. These mutations impair the regulation of eyelid development as well as various activities in the ovaries, resulting in eyelid malformation and abnormally accelerated maturation of certain ovarian cells and the premature death of egg cells. + GHR + blepharophimosis, ptosis, and epicanthus inversus syndrome
Is blepharophimosis, ptosis, and epicanthus inversus syndrome inherited ?
This condition is typically 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 + blepharophimosis, ptosis, and epicanthus inversus syndrome
What are the treatments for blepharophimosis, ptosis, and epicanthus inversus syndrome ?
These resources address the diagnosis or management of BPES:  - Gene Review: Gene Review: Blepharophimosis, Ptosis, and Epicanthus Inversus  - Genetic Testing Registry: Blepharophimosis, ptosis, and epicanthus inversus  - MedlinePlus Encyclopedia: Ptosis   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 + blepharophimosis, ptosis, and epicanthus inversus syndrome
What is (are) isolated Duane retraction syndrome ?
Isolated Duane retraction syndrome is a disorder of eye movement. This condition prevents outward movement of the eye (toward the ear), and in some cases may also limit inward eye movement (toward the nose). As the eye moves inward, the eyelids partially close and the eyeball pulls back (retracts) into its socket. Most commonly, only one eye is affected. About 10 percent of people with isolated Duane retraction syndrome develop amblyopia ("lazy eye"), a condition that causes vision loss in the affected eye.  About 70 percent of all cases of Duane retraction syndrome are isolated, which means they occur without other signs and symptoms. Duane retraction syndrome can also occur as part of syndromes that affect other areas of the body. For example, Duane-radial ray syndrome is characterized by this eye disorder in conjunction with abnormalities of bones in the arms and hands.  Researchers have identified three forms of isolated Duane retraction syndrome, designated types I, II, and III. The types vary in which eye movements are most severely restricted (inward, outward, or both). All three types are characterized by retraction of the eyeball as the eye moves inward. + GHR + isolated Duane retraction syndrome
How many people are affected by isolated Duane retraction syndrome ?
Isolated Duane retraction syndrome affects an estimated 1 in 1,000 people worldwide. This condition accounts for 1 percent to 5 percent of all cases of abnormal eye alignment (strabismus). For unknown reasons, isolated Duane syndrome affects females more often than males. + GHR + isolated Duane retraction syndrome
What are the genetic changes related to isolated Duane retraction syndrome ?
In most people with isolated Duane retraction syndrome, the cause of the condition is unknown. However, researchers have identified mutations in one gene, CHN1, that cause the disorder in a small number of families. The CHN1 gene provides instructions for making a protein that is involved in the early development of the nervous system. Specifically, the protein appears to be critical for the formation of nerves that control several of the muscles surrounding the eyes (extraocular muscles). Mutations in the CHN1 gene disrupt the normal development of these nerves and the extraocular muscles needed for side-to-side eye movement. Abnormal function of these muscles leads to restricted eye movement and related problems with vision. + GHR + isolated Duane retraction syndrome