sarnsrun/medquad huggingface dataset:
Topic: mucopolysaccharidosis type III
Question: What is (are) mucopolysaccharidosis type III ?
Answer: Mucopolysaccharidosis type III (MPS III), also known as Sanfilippo syndrome, is a progressive disorder that mainly affects the brain and spinal cord (central nervous system).  People with MPS III generally do not display any features of the condition at birth, but they begin to show signs and symptoms of the disorder during early childhood. Affected children often initially have delayed speech and behavior problems. They may become restless, destructive, anxious, or aggressive. Sleep disturbances are also very common in children with MPS III. This condition causes progressive intellectual disability and the loss of previously acquired skills (developmental regression). In later stages of the disorder, people with MPS III may develop seizures and movement disorders.  The physical features of MPS III are less pronounced than those of other types of mucopolysaccharidosis. Individuals with MPS III typically have mildly "coarse" facial features, a large head (macrocephaly), a slightly enlarged liver (mild hepatomegaly), and a soft out-pouching around the belly-button (umbilical hernia) or lower abdomen (inguinal hernia). Some people with MPS III have short stature, joint stiffness, or mild dysostosis multiplex, which refers to multiple skeletal abnormalities seen on x-ray. Affected individuals often develop chronic diarrhea and recurrent upper respiratory and ear infections. People with MPS III may also experience hearing loss and vision problems.  MPS III is divided into types IIIA, IIIB, IIIC, and IIID, which are distinguished by their genetic cause. The different types of MPS III have similar signs and symptoms, although the features of MPS IIIA typically appear earlier in life and progress more rapidly. People with MPS III usually live into adolescence or early adulthood.
Source: GHR
Topic: mucopolysaccharidosis type III
Question: How many people are affected by mucopolysaccharidosis type III ?
Answer: MPS III is the most common type of mucopolysaccharidosis; the estimated incidence of all four types combined is 1 in 70,000 newborns. MPS IIIA and MPS IIIB are much more common than MPS IIIC and MPS IIID.
Source: GHR
Topic: mucopolysaccharidosis type III
Question: What are the genetic changes related to mucopolysaccharidosis type III ?
Answer: Mutations in the GNS, HGSNAT, NAGLU, and SGSH genes cause MPS III. These genes provide instructions for making enzymes involved in the breakdown of large sugar molecules called glycosaminoglycans (GAGs). GAGs were originally called mucopolysaccharides, which is where this condition gets its name. The GNS, HGSNAT, NAGLU, and SGSH enzymes are involved in the step-wise breakdown of a subset of GAGs called heparan sulfate.  MPS IIIA is caused by mutations in the SGSH gene, and MPS IIIB is caused by NAGLU gene mutations. Mutations in the HGSNAT gene result in MPS IIIC, and GNS gene mutations cause MPS IIID. Mutations in these genes reduce or eliminate enzyme function. A lack of any one of these enzymes disrupts the breakdown of heparan sulfate. As a result, partially broken down heparan sulfate accumulates within cells, specifically inside the lysosomes. Lysosomes are compartments in the cell that digest and recycle different types of molecules. Conditions such as MPS III that cause molecules to build up inside the lysosomes are called lysosomal storage disorders. Researchers believe that the accumulation of GAGs interferes with the functions of other proteins inside the lysosomes and disrupts the normal functions of cells. It is unknown why the buildup of heparan sulfate mostly affects the central nervous system in MPS III.
Source: GHR
Topic: mucopolysaccharidosis type III
Question: Is mucopolysaccharidosis type III inherited ?
Answer: 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.
Source: GHR
Topic: mucopolysaccharidosis type III
Question: What are the treatments for mucopolysaccharidosis type III ?
Answer: These resources address the diagnosis or management of mucopolysaccharidosis type III:  - Genetic Testing Registry: Mucopolysaccharidosis, MPS-III-A  - Genetic Testing Registry: Mucopolysaccharidosis, MPS-III-B  - Genetic Testing Registry: Mucopolysaccharidosis, MPS-III-C  - Genetic Testing Registry: Mucopolysaccharidosis, MPS-III-D  - MedlinePlus Encyclopedia: Sanfilippo Syndrome  - National MPS Society: A Guide to Understanding MPS III   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
Source: GHR
Topic: harlequin ichthyosis
Question: What is (are) harlequin ichthyosis ?
Answer: Harlequin ichthyosis is a severe genetic disorder that mainly affects the skin. Infants with this condition are born with very hard, thick skin covering most of their bodies. The skin forms large, diamond-shaped plates that are separated by deep cracks (fissures). These skin abnormalities affect the shape of the eyelids, nose, mouth, and ears, and limit movement of the arms and legs. Restricted movement of the chest can lead to breathing difficulties and respiratory failure.  The skin normally forms a protective barrier between the body and its surrounding environment. The skin abnormalities associated with harlequin ichthyosis disrupt this barrier, making it more difficult for affected infants to control water loss, regulate their body temperature, and fight infections. Infants with harlequin ichthyosis often experience an excessive loss of fluids (dehydration) and develop life-threatening infections in the first few weeks of life. It used to be very rare for affected infants to survive the newborn period. However, with intensive medical support and improved treatment, people with this disorder now have a better chance of living into childhood and adolescence.
Source: GHR
Topic: harlequin ichthyosis
Question: How many people are affected by harlequin ichthyosis ?
Answer: Harlequin ichthyosis is very rare; its exact incidence is unknown.
Source: GHR
Topic: harlequin ichthyosis
Question: What are the genetic changes related to harlequin ichthyosis ?
Answer: Mutations in the ABCA12 gene cause harlequin ichthyosis. The ABCA12 gene provides instructions for making a protein that is essential for the normal development of skin cells. This protein plays a major role in the transport of fats (lipids) in the outermost layer of skin (the epidermis). Some mutations in the ABCA12 gene prevent the cell from making any ABCA12 protein. Other mutations lead to the production of an abnormally small version of the protein that cannot transport lipids properly. A loss of functional ABCA12 protein disrupts the normal development of the epidermis, resulting in the hard, thick scales characteristic of harlequin ichthyosis.
Source: GHR
Topic: harlequin ichthyosis
Question: Is harlequin ichthyosis inherited ?
Answer: 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.
Source: GHR
Topic: harlequin ichthyosis
Question: What are the treatments for harlequin ichthyosis ?
Answer: These resources address the diagnosis or management of harlequin ichthyosis:  - Gene Review: Gene Review: Autosomal Recessive Congenital Ichthyosis  - Genetic Testing Registry: Autosomal recessive congenital ichthyosis 4B   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
Source: GHR
Topic: hyperferritinemia-cataract syndrome
Question: What is (are) hyperferritinemia-cataract syndrome ?
Answer: Hyperferritinemia-cataract syndrome is a disorder characterized by an excess of an iron storage protein called ferritin in the blood (hyperferritinemia) and tissues of the body. A buildup of this protein begins early in life, leading to clouding of the lenses of the eyes (cataracts). In affected individuals, cataracts usually develop in infancy, rather than after age 60 as typically occurs in the general population. Cataracts that are not removed surgically cause progressive dimming and blurriness of vision because the clouded lenses reduce and distort incoming light.  Although the hyperferritinemia in this disorder does not usually cause any health problems other than cataracts, the elevated ferritin levels in the blood can be mistaken for a sign of certain liver disorders. These conditions result in excess iron in the body and may be treated by blood-drawing. However, individuals with hyperferritinemia-cataract syndrome do not have an excess of iron, and with repeated blood draws will develop reduced iron levels leading to a low number of red blood cells (anemia). Therefore, correct diagnosis of hyperferritinemia-cataract syndrome is important to avoid unnecessary treatments or invasive test procedures such as liver biopsies.
Source: GHR
Topic: hyperferritinemia-cataract syndrome
Question: How many people are affected by hyperferritinemia-cataract syndrome ?
Answer: Hyperferritinemia-cataract syndrome has been estimated to occur in 1 in 200,000 individuals.
Source: GHR
Topic: hyperferritinemia-cataract syndrome
Question: What are the genetic changes related to hyperferritinemia-cataract syndrome ?
Answer: Hyperferritinemia-cataract syndrome is caused by mutations in the FTL gene. This gene provides instructions for making the ferritin light chain, which is one part (subunit) of the protein ferritin. Ferritin is made up of 24 subunits formed into a hollow spherical molecule. The 24 subunits consist of varying numbers of the ferritin light chain and another subunit called the ferritin heavy chain, which is produced from another gene. The proportion of the two subunits varies in different tissues.  Ferritin stores and releases iron in cells. Each ferritin molecule can hold as many as 4,500 iron atoms inside its spherical structure. This storage capacity allows ferritin to regulate the amount of iron in cells and tissues.  The mutations that cause hyperferritinemia-cataract syndrome are found in a segment of the gene called the iron responsive element (IRE). The IRE normally can attach (bind) to a protein called the iron regulatory protein (IRP). When this binding occurs, the activity (expression) of the FTL gene is stopped to prevent too much ferritin light chain from being produced. This normally occurs when iron levels are low, because under those circumstances less ferritin is needed to store the iron. Mutations in the IRE segment of the FTL gene prevent it from binding with IRP, interfering with the mechanism by which ferritin production is matched to iron levels and resulting in excess ferritin being formed.
Source: GHR
Topic: hyperferritinemia-cataract syndrome
Question: Is hyperferritinemia-cataract syndrome inherited ?
Answer: 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.
Source: GHR
Topic: hyperferritinemia-cataract syndrome
Question: What are the treatments for hyperferritinemia-cataract syndrome ?
Answer: These resources address the diagnosis or management of hyperferritinemia-cataract syndrome:  - Boston Children's Hospital: Cataracts in Children  - Genetic Testing Registry: Hyperferritinemia cataract syndrome  - MedlinePlus Encyclopedia: Cataract Removal   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
Source: GHR
Topic: abetalipoproteinemia
Question: What is (are) abetalipoproteinemia ?
Answer: Abetalipoproteinemia is an inherited disorder that affects the absorption of dietary fats, cholesterol, and fat-soluble vitamins. People affected by this disorder are not able to make certain lipoproteins, which are particles that carry fats and fat-like substances (such as cholesterol) in the blood. Specifically, people with abetalipoproteinemia are missing a group of lipoproteins called beta-lipoproteins. An inability to make beta-lipoproteins causes severely reduced absorption (malabsorption) of dietary fats and fat-soluble vitamins (vitamins A, D, E, and K) from the digestive tract into the bloodstream. Sufficient levels of fats, cholesterol, and vitamins are necessary for normal growth, development, and maintenance of the body's cells and tissues, particularly nerve cells and tissues in the eye.  The signs and symptoms of abetalipoproteinemia appear in the first few months of life. They can include failure to gain weight and grow at the expected rate (failure to thrive); diarrhea; abnormal star-shaped red blood cells (acanthocytosis); and fatty, foul-smelling stools (steatorrhea). Other features of this disorder may develop later in childhood and often impair the function of the nervous system. Disturbances in nerve function may cause affected people to eventually develop poor muscle coordination and difficulty with balance and movement (ataxia). Individuals with this condition may also develop an eye disorder called retinitis pigmentosa, in which progressive degeneration of the light-sensitive layer (retina) at the back of the eye can cause vision loss. Adults in their thirties or forties may have increasing difficulty with balance and walking. Many of the signs and symptoms of abetalipoproteinemia result from a severe vitamin deficiency, especially a deficiency of vitamin E.
Source: GHR
Topic: abetalipoproteinemia
Question: How many people are affected by abetalipoproteinemia ?
Answer: Abetalipoproteinemia is a rare disorder with approximately 100 cases described worldwide.
Source: GHR
Topic: abetalipoproteinemia
Question: What are the genetic changes related to abetalipoproteinemia ?
Answer: Mutations in the MTTP gene cause abetalipoproteinemia. The MTTP gene provides instructions for making a protein called microsomal triglyceride transfer protein, which is essential for creating beta-lipoproteins. These lipoproteins are necessary for the absorption of fats, cholesterol, and fat-soluble vitamins from the diet and the efficient transport of these substances in the bloodstream. Most of the mutations in the MTTP gene lead to the production of an abnormally short microsomal triglyceride transfer protein, which prevents the normal creation of beta-lipoproteins in the body. A lack of beta-lipoproteins causes the nutritional and neurological problems seen in people with abetalipoproteinemia.
Source: GHR
Topic: abetalipoproteinemia
Question: Is abetalipoproteinemia inherited ?
Answer: 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.
Source: GHR
Topic: abetalipoproteinemia
Question: What are the treatments for abetalipoproteinemia ?
Answer: These resources address the diagnosis or management of abetalipoproteinemia:  - Genetic Testing Registry: Abetalipoproteinaemia  - MedlinePlus Encyclopedia: Bassen-Kornzweig syndrome  - MedlinePlus Encyclopedia: Malabsorption  - MedlinePlus Encyclopedia: Retinitis pigmentosa  - MedlinePlus Encyclopedia: Stools - floating   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
Source: GHR
Topic: chylomicron retention disease
Question: What is (are) chylomicron retention disease ?
Answer: Chylomicron retention disease is an inherited disorder that affects the absorption of dietary fats, cholesterol, and certain fat-soluble vitamins. As food is digested after a meal, molecules called chylomicrons are formed to carry fat and cholesterol from the intestine into the bloodstream. Chylomicrons are also necessary for the absorption of certain fat-soluble vitamins, such as vitamin E and vitamin D. A lack of chylomicron transport causes severely decreased absorption (malabsorption) of dietary fats and fat-soluble vitamins. Sufficient levels of fats, cholesterol, and vitamins are necessary for normal growth and development.  The signs and symptoms of chylomicron retention disease appear in the first few months of life. They can include failure to gain weight and grow at the expected rate (failure to thrive); diarrhea; and fatty, foul-smelling stools (steatorrhea). Other features of this disorder may develop later in childhood and often impair the function of the nervous system. Affected people may eventually develop decreased reflexes (hyporeflexia) and a decreased ability to feel vibrations.
Source: GHR
Topic: chylomicron retention disease
Question: How many people are affected by chylomicron retention disease ?
Answer: Chylomicron retention disease is a rare condition with approximately 40 cases described worldwide.
Source: GHR
Topic: chylomicron retention disease
Question: What are the genetic changes related to chylomicron retention disease ?
Answer: Mutations in the SAR1B gene cause chylomicron retention disease. The SAR1B gene provides instructions for making a protein that is involved in transporting chylomicrons within enterocytes, which are cells that line the intestine and absorb nutrients.  SAR1B gene mutations impair the release of chylomicrons into the bloodstream. A lack of chylomicrons in the blood prevents dietary fats and fat-soluble vitamins from being used by the body, leading to the nutritional and developmental problems seen in people with chylomicron retention disease.
Source: GHR
Topic: chylomicron retention disease
Question: Is chylomicron retention disease inherited ?
Answer: 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.
Source: GHR
Topic: chylomicron retention disease
Question: What are the treatments for chylomicron retention disease ?
Answer: These resources address the diagnosis or management of chylomicron retention disease:  - Genetic Testing Registry: Chylomicron retention disease  - MedlinePlus Encyclopedia: Malabsorption   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
Source: GHR
Topic: atelosteogenesis type 1
Question: What is (are) atelosteogenesis type 1 ?
Answer: Atelosteogenesis type 1 is a disorder that affects the development of bones throughout the body. Affected individuals are born with inward- and upward-turning feet (clubfeet) and dislocations of the hips, knees, and elbows. Bones in the spine, rib cage, pelvis, and limbs may be underdeveloped or in some cases absent. As a result of the limb bone abnormalities, individuals with this condition have very short arms and legs. Characteristic facial features include a prominent forehead, wide-set eyes (hypertelorism), an upturned nose with a grooved tip, and a very small lower jaw and chin (micrognathia). Affected individuals may also have an opening in the roof of the mouth (a cleft palate). Males with this condition can have undescended testes.  Individuals with atelosteogenesis type 1 typically have an underdeveloped rib cage that affects the development and functioning of the lungs. As a result, affected individuals are usually stillborn or die shortly after birth from respiratory failure.
Source: GHR
Topic: atelosteogenesis type 1
Question: How many people are affected by atelosteogenesis type 1 ?
Answer: Atelosteogenesis type 1 is a rare disorder; its exact prevalence is unknown. Only a few dozen affected individuals have been identified.
Source: GHR
Topic: atelosteogenesis type 1
Question: What are the genetic changes related to atelosteogenesis type 1 ?
Answer: Mutations in the FLNB gene cause atelosteogenesis type 1. The FLNB gene provides instructions for making a protein called filamin B. This protein helps build the network of protein filaments (cytoskeleton) that gives structure to cells and allows them to change shape and move. Filamin B attaches (binds) to another protein called actin and helps the actin to form the branching network of filaments that makes up the cytoskeleton. Filamin B also links actin to many other proteins to perform various functions within the cell, including the cell signaling that helps determine how the cytoskeleton will change as tissues grow and take shape during development.  Filamin B is especially important in the development of the skeleton before birth. It is active (expressed) in the cell membranes of cartilage-forming cells (chondrocytes). Cartilage is a tough, flexible tissue that makes up much of the skeleton during early development. Most cartilage is later converted to bone, a process called ossification, except for the cartilage that continues to cover and protect the ends of bones and is present in the nose, airways (trachea and bronchi), and external ears. Filamin B appears to be important for normal cell growth and division (proliferation) and maturation (differentiation) of chondrocytes and for the ossification of cartilage.  FLNB gene mutations that cause atelosteogenesis type 1 change single protein building blocks (amino acids) in the filamin B protein or delete a small section of the protein sequence, resulting in an abnormal protein. This abnormal protein appears to have a new, atypical function that interferes with the proliferation or differentiation of chondrocytes, impairing ossification and leading to the signs and symptoms of atelosteogenesis type 1.
Source: GHR
Topic: atelosteogenesis type 1
Question: Is atelosteogenesis type 1 inherited ?
Answer: 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. Almost all cases result from new mutations in the gene and occur in people with no history of the disorder in their family.
Source: GHR
Topic: atelosteogenesis type 1
Question: What are the treatments for atelosteogenesis type 1 ?
Answer: These resources address the diagnosis or management of atelosteogenesis type 1:  - Gene Review: Gene Review: FLNB-Related Disorders  - Genetic Testing Registry: Atelosteogenesis type 1   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
Source: GHR