bowang0911/MedQuAD huggingface dataset:
How is pyruvate dehydrogenase deficiency inherited? Pyruvate dehydrogenase deficiency is most commonly caused by mutations in the E1 alpha gene, which is located on the X chromosome (one of the sex chromosomes) and is typically inherited in an X-linked dominant manner. Dominant inheritance occurs when an abnormal gene from one parent is capable of causing disease, even though a matching gene from the other parent is normal. The abnormal gene "dominates" the gene pair. Females have two X chromosomes (one from each parent) and males have one X chromosome from the mother and one Y chromosome from the father. For an X-linked dominant disorder, because one mutated gene is enough to cause the condition, both males and females can have the condition. Because males have no other copy of the X chromosome with a working gene, affected males usually have more severe disease than affected females (who have another X chromosome with a working gene).  If the father carries the abnormal X gene, all of his daughters will inherit the disease and none of his sons will have the disease. If the mother carries the abnormal X gene, there is a 50% (1 in 2) chance for each child (whether male or female) to inherit the disease. The condition may also be caused by a new mutation that first appears in an affected individual, without either parent carrying an abnormal gene for the condition. The other genes that are thought to cause pyruvate dehydrogenase deficiency appear to be inherited in an autosomal recessive manner and are not on the sex chromosomes. This means that two non-working copies of the gene that is causing the condition must be present for an individual to have the condition. When an individual has an autosomal recessive condition, each of that person's parents have a non-working copy of the gene and are referred to as "carriers." When 2 carriers for the same condition are having children, there is a 25% (1 in 4) chance for each child to have the condition, a 50% (1 in 2) chance for each child to be a carrier like each of the parents, and a 25% chance for each child to not have the condition and not be a carrier.
Is genetic testing available for pyruvate dehydrogenase deficiency? Genetic testing is available for pyruvate dehydrogenase deficiency. GeneTests lists the names of laboratories that are performing genetic testing for pyruvate dehydrogenase deficiency. To view the contact information for the clinical laboratories conducting testing click here. Please note: Most of the laboratories listed through GeneTests do not accept direct contact from patients and their families; therefore, if you are interested in learning more, you will need to work with a health care provider or a genetics professional. How is pyruvate dehydrogenase deficiency diagnosed? The diagnosis of pyruvate dehydrogenase (PDH) deficiency may be considered in any individual with early-onset neurological disease, especially if it appears to be associated with structural abnormalities in the brain and unexplained lactic acidosis. When lactic acid (also called lactate) and pyruvate in the blood do not seem to be significantly high, an important clue to the diagnosis may be high concentrations of lactate and/or pyruvate in the cerebrospinal fluid (the fluid that surrounds the brain and spinal cord). Additionally, magnetic resonance spectroscopy (MRS) of the brain may show concentrations of lactate in the central nervous system. Analysis of serum and urine amino acids usually shows hyperalaninemia (high levels of the amino acid alanine). When lactic acidosis is present, other disorders involving pyruvate abnormalities are part of the differential diagnosis. However, in all of these conditions, the diagnosis is based on specific laboratory tests. Specific enzyme tests have been designed which measure both the individual's overall PDH activity, as well as each separate component of the complex (because any defect in the complex may cause the condition). The vast majority of individuals with PDH deficiency are found to be deficient in the El enzyme, but abnormalities have also been detected in other components.
How might pyruvate dehydrogenase deficiency be treated? Treatment of pyruvate dehydrogenase (PDH) deficiency rarely influences the course of the disease, but goals include stimulating the pyruvate dehydrogenase complex (PDHC), providing alternative sources of energy, and preventing immediate, acute worsening of the condition. However, even with treatment, damage to the central nervous system is common. Lactic acid accumulation may be lessened by giving a high fat/low carbohydrate (ketogenic) diet, but this does not alleviate the neurological symptoms, because structural damage in the brain is typically present from before birth. There is some evidence that a medication called dichloroacetate may reduce the metabolic issues in some patients. The standard of care is to supplement cofactors, which are substances in the body that help the chemical reactions in the cells to occur; these include thiamine, carnitine, and lipoic acid. The individuals with PDH deficiency that respond to these cofactors (especially thiamine) usually have a better outcome. However, giving all of these cofactors to all patients with PDH deficiency is typical in order to optimize pyruvate dehydrogenase complex function. Oral citrate is often used to treat acidosis.
What are the signs and symptoms of Grubben de Cock Borghgraef syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Grubben de Cock Borghgraef syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of eye movement 90% Blue sclerae 90% Cognitive impairment 90% Deviation of finger 90% Dry skin 90% Eczema 90% Muscular hypotonia 90% Round face 90% Seizures 90% Short neck 90% Short palm 90% Autosomal recessive inheritance - Delayed speech and language development - Intrauterine growth retardation - Microdontia - Partial agenesis of the corpus callosum - Postnatal growth retardation - Widely spaced teeth - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
Fumarase deficiency is an inherited condition that primarily affects the nervous system, especially the brain. Affected infants may have microcephaly, abnormal brain structure, severe developmental delay, weak muscle tone (hypotonia), failure to thrive, seizures, and/or distinctive facial features. Other signs and symptoms may include hepatosplenomegaly, an excess of red blood cells (polycythemia), and/or or deficiency of white blood cells (leukopenia). Affected individuals usually survive only a few months, but a few have lived into early adulthood. This condition is caused by mutations in the FH gene and is inherited in an autosomal recessive manner. No effective treatment is currently available.
What are the signs and symptoms of Fumarase deficiency? Most newborns with fumarase deficiency show severe neurologic abnormalities, including poor feeding, failure to thrive, and poor muscle tone (hypotonia). Early-onset infantile encephalopathy (altered brain structure or function), seizures, and severe developmental delay with microcephaly are also common. Other signs and symptoms may include infantile spasms, abnormal posturing of the limbs, and autistic features. Distinctive facial features have been reported in some affected individuals and have included an unusually prominent forehead (frontal bossing); low-set ears; a small jaw (micrognathia); widely-spaced eyes (ocular hypertelorism); depressed nasal bridge; and high-arched palate. Other findings in affected individuals can include neonatal polycythemia (an excess of red blood cells); leukopenia (deficiency of white blood cells); neutropenia; enlarged liver and spleen (hepatosplenomegaly); and pancreatitis. Many children with this condition do not survive infancy or childhood. Those surviving beyond childhood have severe psychomotor deficits. The Human Phenotype Ontology provides the following list of signs and symptoms for Fumarase deficiency. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Agenesis of corpus callosum - Aminoaciduria - Anteverted nares - Autosomal recessive inheritance - Cerebral atrophy - Cholestasis - Choroid plexus cyst - Cutaneous leiomyoma - Decreased subcutaneous fat - Depressed nasal bridge - Failure to thrive - Frontal bossing - Hepatic failure - High palate - Hypertelorism - Hypoplasia of the brainstem - Intellectual disability, profound - Lactic acidosis - Metabolic acidosis - Microcephaly - Muscular hypotonia - Neurological speech impairment - Open operculum - Optic atrophy - Pallor - Polycythemia - Polymicrogyria - Relative macrocephaly - Status epilepticus - Visual impairment - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
What causes fumarase deficiency? Mutations in the FH gene cause fumarase deficiency. The FH gene provides instructions for making an enzyme called fumarase, which participates in a series of reactions allowing cells to use oxygen and generate energy. Mutations in the FH gene disrupt the enzyme's ability to do its job. Disruption of the process that generates energy for cells is particularly harmful to cells in the developing brain, thus resulting in the signs and symptoms of fumarase deficiency.
What are the signs and symptoms of Thakker-Donnai syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Thakker-Donnai syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Anteverted nares 90% Downturned corners of mouth 90% Hypertelorism 90% Long palpebral fissure 90% Low-set, posteriorly rotated ears 90% Muscular hypotonia 90% Narrow mouth 90% Short neck 90% Upslanted palpebral fissure 90% Vertebral segmentation defect 90% Webbed neck 90% Abnormality of the upper urinary tract 50% Aplasia/Hypoplasia of the corpus callosum 50% Communicating hydrocephalus 50% Congenital diaphragmatic hernia 50% Intrauterine growth retardation 50% Macrotia 50% Tetralogy of Fallot 50% Tracheoesophageal fistula 50% Transposition of the great arteries 50% Ventricular septal defect 50% Abnormal facial shape - Abnormalities of placenta or umbilical cord - Agenesis of corpus callosum - Anal atresia - Autosomal recessive inheritance - Bulbous nose - Hemivertebrae - Hydrocephalus - Hydronephrosis - Long ear - Low posterior hairline - Posteriorly rotated ears - Rectovaginal fistula - Short nose - Wide nasal bridge - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
Dowling-Degos disease is a skin condition characterized by a lacy or net-like (reticulate) pattern of abnormally dark skin coloring (hyperpigmentation), particularly in the body's folds and creases. Other features may include dark lesions on the face and back that resemble blackheads, red bumps around the mouth that resemble acne, depressed or pitted scars on the face similar to acne scars but with no history of acne, cysts within hair follicles (pilar cysts) on the scalp, and rarely, patches of skin that are unusually light in color (hypopigmented). Symptoms typically develop in late childhood or in adolescence and progress over time. While the skin changes caused by Dowling-Degos disease can be bothersome, they typically don't cause health problems. Dowling-Degos disease is caused by mutations in the KRT5 gene. This condition is inherited in an autosomal dominant pattern.
What are the signs and symptoms of Dowling-Degos disease? Dowling-Degos disease is characterized by a lacy or net-like (reticulate) pattern of abnormally dark skin coloring (hyperpigmentation), particularly in the body's folds and creases. These skin changes typically first appear in the armpits and groin area and can later spread to other skin folds such as the crook of the elbow and back of the knee. Less commonly, pigmentation changes can also occur on the wrist, back of the hand, face, scalp, scrotum (in males), and vulva (in females). These areas of hyperpigmentation are not affected by exposure to sunlight. Individuals with Dowling-Degos disease may also have dark lesions on the face and back that resemble blackheads, red bumps around the mouth that resemble acne, or depressed or pitted scars on the face similar to acne scars but with no history of acne. Cysts within the hair follicle (pilar cysts) may develop, most commonly on the scalp. Rarely, affected individuals have patches of skin that are unusually light in color (hypopigmented). The pigmentation changes characteristic of Dowling-Degos disease typically begin in late childhood or in adolescence, although in some individuals, features of the condition do not appear until adulthood. New areas of hyperpigmentation tend to develop over time, and the other skin lesions tend to increase in number as well. While the skin changes caused by Dowling-Degos disease can be bothersome, they typically cause no health problems. The Human Phenotype Ontology provides the following list of signs and symptoms for Dowling-Degos disease. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal dominant inheritance - Progressive reticulate hyperpigmentation - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
Is there a medicine that can cure Dowling-Degos disease? There is no cure for Dowling-Degos disease. Many different treatments have been tried for this condition, but none has proven effective in eliminating the symptoms for all patients. Topical retinoic acids, topical steroids, hydroquinone, tretinoin, and systemic retinoids have been used without success. Limited reports indicate at least temporary therapeutic benefit with topical adapalene. Various laser systems (CO2 and erbiumYAG) have also shown some promise.    Additional articles that address this topic can be accessed below: Altomare G, Capella GL, Fracchiolla C, Frigerio E. Effectiveness of topical adapalene in Dowling-Degos disease. Dermatology. 1999;198(2):176-7.
Freeman Sheldon syndrome is an inherited disorder characterized by multiple contractures (i.e., restricted movement around two or more body areas) at birth (congenital), abnormalities of the head and face (craniofacial) area, defects of the hands and feet, and skeletal malformations. Freeman-Sheldon syndrome can be inherited as an autosomal dominant or autosomal recessive genetic trait. However, most cases occur randomly with no apparent cause (sporadically).
What are the signs and symptoms of Freeman Sheldon syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Freeman Sheldon syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the teeth 90% Camptodactyly of finger 90% Chin dimple 90% Hypertelorism 90% Limitation of joint mobility 90% Narrow mouth 90% Scoliosis 90% Talipes 90% Trismus 90% Ulnar deviation of finger 90% Underdeveloped nasal alae 90% Wide nasal bridge 90% Abnormality of the nares 50% Cryptorchidism 50% Deeply set eye 50% Hearing impairment 50% Long philtrum 50% Malignant hyperthermia 50% Neurological speech impairment 50% Prenatal movement abnormality 50% Ptosis 50% Short stature 50% Strabismus 50% Intellectual disability 31% Absent palmar crease 7.5% Hernia 7.5% Oligohydramnios 7.5% Polyhydramnios 7.5% Abnormal auditory evoked potentials - Abnormality of the skin - Adducted thumb - Autosomal dominant inheritance - Autosomal recessive inheritance - Blepharophimosis - Breech presentation - Camptodactyly - Cerebellar atrophy - Chin with H-shaped crease - Epicanthus - Failure to thrive - Fever - Flat face - Flexion contracture of toe - High palate - Hip contracture - Hip dislocation - Hypoplasia of the brainstem - Inguinal hernia - Joint contracture of the hand - Knee flexion contracture - Kyphoscoliosis - Malar flattening - Mandibular prognathia - Mask-like facies - Microcephaly - Muscle weakness - Nasal speech - Postnatal growth retardation - Prominent forehead - Rocker bottom foot - Seizures - Short neck - Short nose - Shoulder flexion contracture - Small for gestational age - Spina bifida occulta - Talipes equinovarus - Telecanthus - Ulnar deviation of the hand or of fingers of the hand - Whistling appearance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
How is Freeman Sheldon syndrome diagnosed? Freeman Sheldon syndrome may be suspected based on medical history and physical examination which reveal characteristic features such as a small mouth, flat mask-like face, club feet, joint contractures, and under-development of the cartilage of the nose. A definitive diagnosis can be made through clinical genetic testing. GeneTests lists laboratories offering clinical genetic testing for this condition. Clinical genetic tests are ordered to help diagnose a person or family and to aid in decisions regarding medical care or reproductive issues. Talk to your health care provider or a genetic professional to learn more about your testing options.
Hypoplastic left heart syndrome (HLHS) is a problem with the hearts structure that is present at birth (congenital). It occurs when parts of the left side of the heart (mitral valve, left ventricle, aortic valve, and aorta) do not develop completely. The underdeveloped left side of the heart is unable to provide enough blood flow to the body, which decreases the oxygen-rich blood supply. Babies with HLHS might look normal at birth, but will develop symptoms of HLHS within a few days. These symptoms might include: poor feeding, problems breathing, pounding heart, weak pulse, and ashen or bluish skin color. The cause of HLHs is presently unknown.