Druvith/transformed_medDataset huggingface dataset:
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.
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.
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.
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.
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
What is (are) lattice corneal dystrophy type II ? 
 Lattice corneal dystrophy type II is characterized by an accumulation of protein clumps called amyloid deposits in tissues throughout the body. The deposits frequently occur in blood vessel walls and basement membranes, which are thin, sheet-like structures that separate and support cells in many tissues. Amyloid deposits lead to characteristic signs and symptoms involving the eyes, nerves, and skin that worsen with age.  The earliest sign of this condition, which is usually identified in a person's twenties, is accumulation of amyloid deposits in the cornea (lattice corneal dystrophy). The cornea is the clear, outer covering of the eye. It is made up of several layers of tissue, and in lattice corneal dystrophy type II, the amyloid deposits form in the stromal layer. The amyloid deposits form as delicate, branching fibers that create a lattice pattern. Because these protein deposits cloud the cornea, they often lead to vision impairment. In addition, affected individuals can have recurrent corneal erosions, which are caused by separation of particular layers of the cornea from one another. Corneal erosions are very painful and can cause sensitivity to bright light (photophobia). Amyloid deposits and corneal erosions are usually bilateral, which means they affect both eyes.  As lattice corneal dystrophy type II progresses, the nerves become involved, typically starting in a person's forties. It is thought that the amyloid deposits disrupt nerve function. Dysfunction of the nerves in the head and face (cranial nerves) can cause paralysis of facial muscles (facial palsy); decreased sensations in the face (facial hypoesthesia); and difficulty speaking, chewing, and swallowing. Dysfunction of the nerves that connect the brain and spinal cord to muscles and to sensory cells that detect sensations such as touch, pain, and heat (peripheral nerves) can cause loss of sensation and weakness in the limbs (peripheral neuropathy). Peripheral neuropathy usually occurs in the lower legs and arms, leading to muscle weakness, clumsiness, and difficulty sensing vibrations.  The skin is also commonly affected in people with lattice corneal dystrophy type II, typically beginning in a person's forties. People with this condition may have thickened, sagging skin, especially on the scalp and forehead, and a condition called cutis laxa, which is characterized by loose skin that lacks elasticity. The skin can also be dry and itchy. Because of loose skin and muscle paralysis in the face, individuals with lattice corneal dystrophy type II can have a facial expression that appears sad.
How many people are affected by lattice corneal dystrophy type II ? 
 Lattice corneal dystrophy type II is a rare condition; however, the prevalence is unknown. While this condition can be found in populations worldwide, it was first described in Finland and is more common there.
What are the genetic changes related to lattice corneal dystrophy type II ? 
 Lattice corneal dystrophy type II is caused by mutations in the GSN gene. This gene provides instructions for making a protein called gelsolin. This protein is found throughout the body and helps regulate the formation of the network of protein filaments that gives structure to cells (the cytoskeleton). Mutations that cause lattice corneal dystrophy type II change a single protein building block (amino acid) in the gelsolin protein. The altered gelsolin protein is broken down differently than the normal protein, which results in an abnormal gelsolin protein fragment that is released from the cell. These protein fragments clump together and form amyloid deposits, which lead to the signs and symptoms of lattice corneal dystrophy type II.
Is lattice corneal dystrophy type II 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. Although a mutation in one copy of the gene can cause the disorder, people with mutations in both copies of the gene have more severe signs and symptoms.
What are the treatments for lattice corneal dystrophy type II ? 
 These resources address the diagnosis or management of lattice corneal dystrophy type II:  - American Foundation for the Blind: Living with Vision Loss  - Genetic Testing Registry: Meretoja syndrome  - Merck Manual Home Health Edition: Diagnosis of Eye Disorders: Slit-Lamp Examination   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
What is (are) Nager syndrome ? 
 Nager syndrome is a rare condition that mainly affects the development of the face, hands, and arms. The severity of this disorder varies among affected individuals.  Children with Nager syndrome are born with underdeveloped cheek bones (malar hypoplasia) and a very small lower jaw (micrognathia). They often have an opening in the roof of the mouth called a cleft palate. These abnormalities frequently cause feeding problems in infants with Nager syndrome. The airway is usually restricted due to the micrognathia, which can lead to life-threatening breathing problems.  People with Nager syndrome often have eyes that slant downward, absent eyelashes, and a notch in the lower eyelids called an eyelid coloboma. Many affected individuals have small or unusually formed ears, and about 60 percent have hearing loss caused by defects in the middle ear (conductive hearing loss). Nager syndrome does not affect a person's intelligence, although speech development may be delayed due to hearing impairment.  Individuals with Nager syndrome have bone abnormalities in their hands and arms. The most common abnormality is malformed or absent thumbs. Affected individuals may also have fingers that are unusually curved (clinodactyly) or fused together (syndactyly). Their forearms may be shortened due to the partial or complete absence of a bone called the radius. People with Nager syndrome sometimes have difficulty fully extending their elbows. This condition can also cause bone abnormalities in the legs and feet.  Less commonly, affected individuals have abnormalities of the heart, kidneys, genitalia, and urinary tract.
How many people are affected by Nager syndrome ? 
 Nager syndrome is a rare condition, although its prevalence is unknown. More than 75 cases have been reported in the medical literature.
What are the genetic changes related to Nager syndrome ? 
 The cause of Nager syndrome is unknown. Although the specific genes involved have not been identified, researchers believe that this condition is caused by changes in a particular region of chromosome 9 in some families.  Nager syndrome disrupts the development of structures called the first and second pharyngeal arches. The pharyngeal arches are five paired structures that form on each side of the head and neck during embryonic development. These structures develop into the bones, skin, nerves, and muscles of the head and neck. In particular, the first and second pharyngeal arches develop into the jaw, the nerves and muscles for chewing and facial expressions, the bones in the middle ear, and the outer ear. The cause of the abnormal development of the pharyngeal arches in Nager syndrome is unknown. It is also unclear why affected individuals have bone abnormalities in their arms and legs.
Is Nager syndrome inherited ? 
 Most cases of Nager syndrome are sporadic, which means that they occur in people with no history of the disorder in their family. Less commonly, this condition has been found to run in families. When the disorder is familial, it can have an autosomal dominant or an autosomal recessive pattern of inheritance.  Autosomal dominant inheritance means one copy of an altered gene in each cell is sufficient to cause the disorder, although no genes have been associated with Nager syndrome. In autosomal dominant Nager syndrome, an affected person usually inherits the condition from one affected parent.  Autosomal recessive inheritance means both copies of a gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of a mutated gene, but they typically do not show signs and symptoms of the condition. Nager syndrome is thought to have an autosomal recessive inheritance pattern when unaffected parents have more than one affected child.  The underlying genetic cause may differ among unrelated individuals with Nager syndrome, even among those with the same pattern of inheritance.
What are the treatments for Nager syndrome ? 
 These resources address the diagnosis or management of Nager syndrome:  - Genetic Testing Registry: Nager syndrome  - University of California San Francisco Medical 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
What is (are) Meier-Gorlin syndrome ? 
 Meier-Gorlin syndrome is a condition primarily characterized by short stature. It is considered a form of primordial dwarfism because the growth problems begin before birth (intrauterine growth retardation). After birth, affected individuals continue to grow at a slow rate. Other characteristic features of this condition are underdeveloped or missing kneecaps (patellae), small ears, and, often, an abnormally small head (microcephaly). Despite a small head size, most people with Meier-Gorlin syndrome have normal intellect.  Some people with Meier-Gorlin syndrome have other skeletal abnormalities, such as unusually narrow long bones in the arms and legs, a deformity of the knee joint that allows the knee to bend backwards (genu recurvatum), and slowed mineralization of bones (delayed bone age).  Most people with Meier-Gorlin syndrome have distinctive facial features. In addition to being abnormally small, the ears may be low-set or rotated backward. Additional features can include a small mouth (microstomia), an underdeveloped lower jaw (micrognathia), full lips, and a narrow nose with a high nasal bridge.  Abnormalities in sexual development may also occur in Meier-Gorlin syndrome. In some males with this condition, the testes are small or undescended (cryptorchidism). Affected females may have unusually small external genital folds (hypoplasia of the labia majora) and small breasts. Both males and females with this condition can have sparse or absent underarm (axillary) hair.  Additional features of Meier-Gorlin syndrome can include difficulty feeding and a lung condition known as pulmonary emphysema or other breathing problems.
How many people are affected by Meier-Gorlin syndrome ? 
 Meier-Gorlin syndrome is a rare condition; however, its prevalence is unknown.
What are the genetic changes related to Meier-Gorlin syndrome ? 
 Meier-Gorlin syndrome can be caused by mutations in one of several genes. Each of these genes, ORC1, ORC4, ORC6, CDT1, and CDC6, provides instructions for making one of a group of proteins known as the pre-replication complex. This complex regulates initiation of the copying (replication) of DNA before cells divide. Specifically, the pre-replication complex attaches (binds) to certain regions of DNA known as origins of replication, allowing copying of the DNA to begin at that location. This tightly controlled process, called replication licensing, helps ensure that DNA replication occurs only once per cell division and is required for cells to divide.  Mutations in any one of these genes impair formation of the pre-replication complex and disrupt replication licensing; however, it is not clear how a reduction in replication licensing leads to Meier-Gorlin syndrome. Researchers speculate that such a reduction delays the cell division process, which impairs growth of the bones and other tissues during development. Some research suggests that some of the pre-replication complex proteins have additional functions, impairment of which may contribute to features of Meier-Gorlin syndrome, such as delayed development of the kneecaps and ears.
Is Meier-Gorlin 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.
What are the treatments for Meier-Gorlin syndrome ? 
 These resources address the diagnosis or management of Meier-Gorlin syndrome:  - Genetic Testing Registry: Meier-Gorlin syndrome  - Genetic Testing Registry: Meier-Gorlin syndrome 2  - Genetic Testing Registry: Meier-Gorlin syndrome 3  - Genetic Testing Registry: Meier-Gorlin syndrome 4  - Genetic Testing Registry: Meier-Gorlin syndrome 5   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
What is (are) proopiomelanocortin deficiency ? 
 Proopiomelanocortin (POMC) deficiency causes severe obesity that begins at an early age. In addition to obesity, people with this condition have low levels of a hormone known as adrenocorticotropic hormone (ACTH) and tend to have red hair and pale skin.  Affected infants are usually a normal weight at birth, but they are constantly hungry, which leads to excessive feeding (hyperphagia). The babies continuously gain weight and are severely obese by age 1. Affected individuals experience excessive hunger and remain obese for life. It is unclear if these individuals are prone to weight-related conditions like cardiovascular disease or type 2 diabetes.  Low levels of ACTH lead to a condition called adrenal insufficiency, which occurs when the pair of small glands on top of the kidneys (the adrenal glands) do not produce enough hormones. Adrenal insufficiency often results in periods of severely low blood sugar (hypoglycemia) in people with POMC deficiency, which can cause seizures, elevated levels of a toxic substance called bilirubin in the blood (hyperbilirubinemia), and a reduced ability to produce and release a digestive fluid called bile (cholestasis). Without early treatment, adrenal insufficiency can be fatal.  Pale skin that easily burns when exposed to the sun and red hair are common in POMC deficiency, although not everyone with the condition has these characteristics.
How many people are affected by proopiomelanocortin deficiency ? 
 POMC deficiency is a rare condition; approximately 50 cases have been reported in the medical literature.
What are the genetic changes related to proopiomelanocortin deficiency ? 
 POMC deficiency is caused by mutations in the POMC gene, which provides instructions for making the proopiomelanocortin protein. This protein is cut (cleaved) into smaller pieces called peptides that have different functions in the body. One of these peptides, ACTH, stimulates the release of another hormone called cortisol from the adrenal glands. Cortisol is involved in the maintenance of blood sugar levels. Another peptide, alpha-melanocyte stimulating hormone (-MSH), plays a role in the production of the pigment that gives skin and hair their color. The -MSH peptide and another peptide called beta-melanocyte stimulating hormone (-MSH) act in the brain to help maintain the balance between energy from food taken into the body and energy spent by the body. The correct balance is important to control eating and weight.  POMC gene mutations that cause POMC deficiency result in production of an abnormally short version of the POMC protein or no protein at all. As a result, there is a shortage of the peptides made from POMC, including ACTH, -MSH, and -MSH. Without ACTH, there is a reduction in cortisol production, leading to adrenal insufficiency. Decreased -MSH in the skin reduces pigment production, resulting in the red hair and pale skin often seen in people with POMC deficiency. Loss of -MSH and -MSH in the brain dysregulates the body's energy balance, leading to overeating and severe obesity.  POMC deficiency is a rare cause of obesity; POMC gene mutations are not frequently associated with more common, complex forms of obesity. Researchers are studying other factors that are likely involved in these forms.
Is proopiomelanocortin deficiency inherited ? 
 POMC deficiency 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 this condition each carry one copy of the mutated gene. They typically do not have POMC deficiency, but they may have an increased risk of obesity.
What are the treatments for proopiomelanocortin deficiency ? 
 These resources address the diagnosis or management of proopiomelanocortin deficiency:  - Eunice Kennedy Shriver National Institute of Child Health and Human Development: How are Obesity and Overweight Diagnosed?  - Gene Review: Gene Review: Proopiomelanocortin Deficiency  - Genetic Testing Registry: Proopiomelanocortin deficiency  - MedlinePlus Encyclopedia: ACTH  - National Heart Lung and Blood Institute: How Are Overweight and Obesity Treated?  - National Institutes of Health Clinical Center: Managing Adrenal Insufficiency   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