fenil210/Med-Lamma huggingface dataset:
How many people are affected by North American Indian childhood cirrhosis ?
North American Indian childhood cirrhosis has been found only in children of Ojibway-Cree descent in the Abitibi region of northwestern Quebec, Canada. At least 30 affected individuals from this population have been reported. + GHR + North American Indian childhood cirrhosis
What are the genetic changes related to North American Indian childhood cirrhosis ?
North American Indian childhood cirrhosis results from at least one known mutation in the UTP4 gene. This gene provides instructions for making a protein called cirhin, whose precise function is unknown. Within cells, cirhin is located in a structure called the nucleolus, which is a small region inside the nucleus where ribosomal RNA (rRNA) is produced. A chemical cousin of DNA, rRNA is a molecule that helps assemble protein building blocks (amino acids) into functioning proteins. Researchers believe that cirhin may play a role in processing rRNA. Studies also suggest that cirhin may function by interacting with other proteins.  Cirhin is found in many different types of cells, so it is unclear why the effects of North American Indian childhood cirrhosis appear to be limited to the liver. Researchers are working to determine how a UTP4 gene mutation causes the progressive liver damage characteristic of this disorder. + GHR + North American Indian childhood cirrhosis
Is North American Indian childhood cirrhosis 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 + North American Indian childhood cirrhosis
What are the treatments for North American Indian childhood cirrhosis ?
These resources address the diagnosis or management of North American Indian childhood cirrhosis:  - Children's Organ Transplant Association  - Genetic Testing Registry: North american indian childhood cirrhosis   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 + North American Indian childhood cirrhosis
What is (are) pachyonychia congenita ?
Pachyonychia congenita is a condition that primarily affects the nails and skin. The signs and symptoms of this condition usually become apparent within the first few months of life.  Almost everyone with pachyonychia congenita has hypertrophic nail dystrophy, which causes the fingernails and toenails to become thick and abnormally shaped. Many affected children also develop very painful blisters and calluses on the soles of the feet and, less commonly, on the palms of the hands. This condition is known as palmoplantar keratoderma. Severe blisters and calluses on the feet can make it painful or impossible to walk.  Pachyonychia congenita can have several additional features, which vary among affected individuals. These features include thick, white patches on the tongue and inside of the cheeks (oral leukokeratosis); bumps called follicular keratoses that develop around hair follicles on the elbows, knees, and waistline; cysts in the armpits, groin, back, or scalp; and excessive sweating on the palms and soles (palmoplantar hyperhidrosis). Some affected individuals also develop widespread cysts called steatocystomas, which are filled with an oily substance called sebum that normally lubricates the skin and hair. Some babies with pachyonychia congenita have prenatal or natal teeth, which are teeth that are present at birth or in early infancy. Rarely, pachyonychia congenita can affect the voice box (larynx), potentially leading to hoarseness or breathing problems.  Researchers used to split pachyonychia congenita into two types, PC-1 and PC-2, based on the genetic cause and pattern of signs and symptoms. However, as more affected individuals were identified, it became clear that the features of the two types overlapped considerably. Now researchers prefer to describe pachyonychia congenita based on the gene that is altered. + GHR + pachyonychia congenita
How many people are affected by pachyonychia congenita ?
Although the prevalence of pachyonychia congenita is unknown, it appears to be rare. There are probably several thousand people worldwide with this disorder. + GHR + pachyonychia congenita
What are the genetic changes related to pachyonychia congenita ?
Mutations in several genes, including KRT6A, KRT6B, KRT6C, KRT16, and KRT17, can cause pachyonychia congenita. All of these genes provide instructions for making tough, fibrous proteins called keratins. These proteins form networks that provide strength and resilience to the tissues that make up the skin, hair, and nails.  When pachyonychia congenita is caused by mutations in the KRT6A gene, it is classified as PC-K6a. Similarly, KRT6B gene mutations cause PC-K6b, KRT6C gene mutations cause PC-K6c, KRT16 gene mutations cause PC-K16, and KRT17 gene mutations cause PC-K17.  Mutations in keratin genes alter the structure of keratin proteins, which prevents these proteins from forming strong, stable networks within cells. Without this network, skin cells become fragile and are easily damaged, making the skin less resistant to friction and minor trauma. Even normal activities such as walking can cause skin cells to break down, resulting in the formation of severe, painful blisters and calluses. Defective keratins also disrupt the growth and function of cells in the hair follicles and nails, resulting in the other features of pachyonychia congenita. + GHR + pachyonychia congenita
Is pachyonychia congenita inherited ?
Pachyonychia congenita is considered an autosomal dominant condition, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In about half of all cases, an affected person inherits the mutation from one affected parent. The other half of cases result from a new (de novo) mutation in the gene that occurs 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. + GHR + pachyonychia congenita
What are the treatments for pachyonychia congenita ?
These resources address the diagnosis or management of pachyonychia congenita:  - Gene Review: Gene Review: Pachyonychia Congenita  - Genetic Testing Registry: Pachyonychia congenita 4  - Genetic Testing Registry: Pachyonychia congenita syndrome  - Genetic Testing Registry: Pachyonychia congenita type 2  - Genetic Testing Registry: Pachyonychia congenita, type 1  - MedlinePlus Encyclopedia: Nail Abnormalities  - MedlinePlus Encyclopedia: Natal Teeth   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 + pachyonychia congenita
What is (are) Parkes Weber syndrome ?
Parkes Weber syndrome is a disorder of the vascular system, which is the body's complex network of blood vessels. The vascular system consists of arteries, which carry oxygen-rich blood from the heart to the body's various organs and tissues; veins, which carry blood back to the heart; and capillaries, which are tiny blood vessels that connect arteries and veins.  Parkes Weber syndrome is characterized by vascular abnormalities known as capillary malformations and arteriovenous fistulas (AVFs), which are present from birth. The capillary malformations increase blood flow near the surface of the skin. They usually look like large, flat, pink stains on the skin, and because of their color are sometimes called "port-wine stains." In people with Parkes Weber syndrome, capillary malformations occur together with multiple micro-AVFs, which are tiny abnormal connections between arteries and veins that affect blood circulation. These AVFs can be associated with life-threatening complications including abnormal bleeding and heart failure.  Another characteristic feature of Parkes Weber syndrome is overgrowth of one limb, most commonly a leg. Abnormal growth occurs in bones and soft tissues, making one of the limbs longer and larger around than the corresponding one.  Some vascular abnormalities seen in Parkes Weber syndrome are similar to those that occur in a condition called capillary malformation-arteriovenous malformation syndrome (CM-AVM). CM-AVM and some cases of Parkes Weber syndrome have the same genetic cause. + GHR + Parkes Weber syndrome
How many people are affected by Parkes Weber syndrome ?
Parkes Weber syndrome is a rare condition; its exact prevalence is unknown. + GHR + Parkes Weber syndrome
What are the genetic changes related to Parkes Weber syndrome ?
Some cases of Parkes Weber syndrome result from mutations in the RASA1 gene. When the condition is caused by RASA1 gene mutations, affected individuals usually have multiple capillary malformations. People with Parkes Weber syndrome who do not have multiple capillary malformations are unlikely to have mutations in the RASA1 gene; in these cases, the cause of the condition is often unknown.  The RASA1 gene provides instructions for making a protein known as p120-RasGAP, which is involved in transmitting chemical signals from outside the cell to the nucleus. These signals help control several important cell functions, including the growth and division (proliferation) of cells, the process by which cells mature to carry out specific functions (differentiation), and cell movement. The role of the p120-RasGAP protein is not fully understood, although it appears to be essential for the normal development of the vascular system.  Mutations in the RASA1 gene lead to the production of a nonfunctional version of the p120-RasGAP protein. A loss of this protein's activity disrupts tightly regulated chemical signaling during development. However, it is unclear how these changes lead to the specific vascular abnormalities and limb overgrowth seen in people with Parkes Weber syndrome. + GHR + Parkes Weber syndrome
Is Parkes Weber syndrome inherited ?
Most cases of Parkes Weber syndrome occur in people with no history of the condition in their family. These cases are described as sporadic.  When Parkes Weber syndrome is caused by mutations in the RASA1 gene, it is sometimes inherited from an affected parent. In these cases, the condition has an autosomal dominant pattern of inheritance. Autosomal dominant inheritance means one copy of the altered gene in each cell is sufficient to cause the disorder. + GHR + Parkes Weber syndrome
What are the treatments for Parkes Weber syndrome ?
These resources address the diagnosis or management of Parkes Weber syndrome:  - Gene Review: Gene Review: RASA1-Related Disorders  - Genetic Testing Registry: Parkes Weber 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 + Parkes Weber syndrome
What is (are) intrahepatic cholestasis of pregnancy ?
Intrahepatic cholestasis of pregnancy is a liver disorder that occurs in pregnant women. Cholestasis is a condition that impairs the release of a digestive fluid called bile from liver cells. As a result, bile builds up in the liver, impairing liver function. Because the problems with bile release occur within the liver (intrahepatic), the condition is described as intrahepatic cholestasis. Intrahepatic cholestasis of pregnancy usually becomes apparent in the third trimester of pregnancy. Bile flow returns to normal after delivery of the baby, and the signs and symptoms of the condition disappear. However, they can return during later pregnancies.  This condition causes severe itchiness (pruritus) in the expectant mother. The itchiness usually begins on the palms of the hands and the soles of the feet and then spreads to other parts of the body. Occasionally, affected women have yellowing of the skin and whites of the eyes (jaundice). Some studies have shown that women with intrahepatic cholestasis of pregnancy are more likely to develop gallstones sometime in their life than women who do not have the condition.  Intrahepatic cholestasis of pregnancy can cause problems for the unborn baby. This condition is associated with an increased risk of premature delivery and stillbirth. Additionally, some infants born to mothers with intrahepatic cholestasis of pregnancy have a slow heart rate and a lack of oxygen during delivery (fetal distress). + GHR + intrahepatic cholestasis of pregnancy
How many people are affected by intrahepatic cholestasis of pregnancy ?
Intrahepatic cholestasis of pregnancy is estimated to affect 1 percent of women of Northern European ancestry. The condition is more common in certain populations, such as women of Araucanian Indian ancestry in Chile or women of Scandinavian ancestry. This condition is found less frequently in other populations. + GHR + intrahepatic cholestasis of pregnancy
What are the genetic changes related to intrahepatic cholestasis of pregnancy ?
Genetic changes in the ABCB11 or the ABCB4 gene can increase a woman's likelihood of developing intrahepatic cholestasis of pregnancy.  The ABCB11 gene provides instructions for making a protein called the bile salt export pump (BSEP). This protein is found in the liver, and its main role is to move bile salts (a component of bile) out of liver cells, which is important for the normal release of bile. Changes in the ABCB11 gene associated with intrahepatic cholestasis of pregnancy reduce the amount or function of the BSEP protein, although enough function remains for sufficient bile secretion under most circumstances. Studies show that the hormones estrogen and progesterone (and products formed during their breakdown), which are elevated during pregnancy, further reduce the function of BSEP, resulting in impaired bile secretion and the features of intrahepatic cholestasis of pregnancy.  The ABCB4 gene provides instructions for making a protein that helps move certain fats called phospholipids across cell membranes and release them into bile. Phospholipids attach (bind) to bile acids (another component of bile). Large amounts of bile acids can be toxic when they are not bound to phospholipids. A mutation in one copy of the ABCB4 gene mildly reduces the production of ABCB4 protein. Under most circumstances, though, enough protein is available to move an adequate amount of phospholipids out of liver cells to bind to bile acids. Although the mechanism is unclear, the function of the remaining ABCB4 protein appears to be impaired during pregnancy, which may further reduce the movement of phospholipids into bile. The lack of phospholipids available to bind to bile acids leads to a buildup of toxic bile acids that can impair liver function, including the regulation of bile flow.  Most women with intrahepatic cholestasis of pregnancy do not have a genetic change in the ABCB11 or ABCB4 gene. Other genetic and environmental factors likely play a role in increasing susceptibility to this condition. + GHR + intrahepatic cholestasis of pregnancy
Is intrahepatic cholestasis of pregnancy inherited ?
Susceptibility to intrahepatic cholestasis of pregnancy is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to increase the risk of developing the disorder. Some women with an altered gene do not develop intrahepatic cholestasis of pregnancy. Many other factors likely contribute to the risk of developing this complex disorder. + GHR + intrahepatic cholestasis of pregnancy
What are the treatments for intrahepatic cholestasis of pregnancy ?
These resources address the diagnosis or management of intrahepatic cholestasis of pregnancy:  - Gene Review: Gene Review: ATP8B1 Deficiency  - Genetic Testing Registry: Cholestasis of pregnancy   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 + intrahepatic cholestasis of pregnancy
What is (are) Norrie disease ?
Norrie disease is an inherited eye disorder that leads to blindness in male infants at birth or soon after birth. It causes abnormal development of the retina, the layer of sensory cells that detect light and color, with masses of immature retinal cells accumulating at the back of the eye. As a result, the pupils appear white when light is shone on them, a sign called leukocoria. The irises (colored portions of the eyes) or the entire eyeballs may shrink and deteriorate during the first months of life, and cataracts (cloudiness in the lens of the eye) may eventually develop.  About one third of individuals with Norrie disease develop progressive hearing loss, and more than half experience developmental delays in motor skills such as sitting up and walking. Other problems may include mild to moderate intellectual disability, often with psychosis, and abnormalities that can affect circulation, breathing, digestion, excretion, or reproduction. + GHR + Norrie disease
How many people are affected by Norrie disease ?
Norrie disease is a rare disorder; its exact incidence is unknown. It is not associated with any specific racial or ethnic group. + GHR + Norrie disease
What are the genetic changes related to Norrie disease ?
Mutations in the NDP gene cause Norrie disease.  The NDP gene provides instructions for making a protein called norrin. Norrin participates in the Wnt cascade, a sequence of steps that affect the way cells and tissues develop. In particular, norrin seems to play a critical role in the specialization of retinal cells for their unique sensory capabilities. It is also involved in the establishment of a blood supply to tissues of the retina and the inner ear, and the development of other body systems.  In order to initiate the Wnt cascade, norrin must bind (attach) to another protein called frizzled-4. Mutations in the norrin protein interfere with its ability to bind to frizzled-4, resulting in the signs and symptoms of Norrie disease. + GHR + Norrie disease
Is Norrie disease inherited ?
This condition is inherited in an X-linked recessive pattern. 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. In males (who have only one X chromosome), one altered copy of the gene in each cell is sufficient to cause the condition. In females (who have two X chromosomes), a mutation must be present in both copies of the gene to cause the disorder. Males are affected by X-linked recessive disorders much more frequently than females. A characteristic of X-linked inheritance is that fathers cannot pass X-linked traits to their sons.  In X-linked recessive inheritance, a female with one altered copy of the gene in each cell is called a carrier. She can pass on the gene, but generally does not experience signs and symptoms of the disorder. In rare cases, however, carrier females have shown some retinal abnormalities or mild hearing loss associated with Norrie disease. + GHR + Norrie disease
What are the treatments for Norrie disease ?
These resources address the diagnosis or management of Norrie disease:  - Gene Review: Gene Review: NDP-Related Retinopathies  - Genetic Testing Registry: Atrophia bulborum hereditaria   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 + Norrie disease
What is (are) infantile-onset spinocerebellar ataxia ?
Infantile-onset spinocerebellar ataxia (IOSCA) is a progressive disorder that affects the nervous system. Babies with IOSCA develop normally during the first year of life. During early childhood, however, they begin experiencing difficulty coordinating movements (ataxia); very weak muscle tone (hypotonia); involuntary writhing movements of the limbs (athetosis); and decreased reflexes. By their teenage years affected individuals require wheelchair assistance.  People with IOSCA often develop problems with the autonomic nervous system, which controls involuntary body functions. As a result, they may experience excessive sweating, difficulty controlling urination, and severe constipation.  IOSCA also leads to vision and hearing problems that begin by about age 7. Children with this disorder develop weakness in the muscles that control eye movement (ophthalmoplegia). In their teenage years they experience degeneration of the nerves that carry information from the eyes to the brain (optic atrophy), which can result in vision loss. Hearing loss caused by nerve damage (sensorineural hearing loss) typically occurs during childhood and progresses to profound deafness.  Individuals with IOSCA may have recurrent seizures (epilepsy). These seizures can lead to severe brain dysfunction (encephalopathy).  Most people with IOSCA survive into adulthood. However, a few individuals with IOSCA have an especially severe form of the disorder involving liver damage and encephalopathy that develops during early childhood. These children do not generally live past age 5. + GHR + infantile-onset spinocerebellar ataxia
How many people are affected by infantile-onset spinocerebellar ataxia ?
More than 20 individuals with IOSCA have been identified in Finland. A few individuals with similar symptoms have been reported elsewhere in Europe. + GHR + infantile-onset spinocerebellar ataxia
What are the genetic changes related to infantile-onset spinocerebellar ataxia ?
Mutations in the C10orf2 gene cause IOSCA. The C10orf2 gene provides instructions for making two very similar proteins called Twinkle and Twinky. These proteins are found in the mitochondria, which are structures within cells that convert the energy from food into a form that cells can use.  Mitochondria each contain a small amount of DNA, known as mitochondrial DNA or mtDNA, which is essential for the normal function of these structures. The Twinkle protein is involved in the production and maintenance of mtDNA. The function of the Twinky protein is unknown.  The C10orf2 gene mutations that cause IOSCA interfere with the function of the Twinkle protein and result in reduced quantities of mtDNA (mtDNA depletion). Impaired mitochondrial function in the nervous system, muscles, and other tissues that require a large amount of energy leads to neurological dysfunction and the other problems associated with IOSCA. + GHR + infantile-onset spinocerebellar ataxia
Is infantile-onset spinocerebellar ataxia 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 + infantile-onset spinocerebellar ataxia
What are the treatments for infantile-onset spinocerebellar ataxia ?
These resources address the diagnosis or management of IOSCA:  - Gene Review: Gene Review: Infantile-Onset Spinocerebellar Ataxia  - Genetic Testing Registry: Mitochondrial DNA depletion syndrome 7 (hepatocerebral type)   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 + infantile-onset spinocerebellar ataxia