umarjan11/Medical-qna huggingface dataset:
Question: What are the symptoms of Hand and foot deformity with flat facies ?

Answer: What are the signs and symptoms of Hand and foot deformity with flat facies? The Human Phenotype Ontology provides the following list of signs and symptoms for Hand and foot deformity with flat facies. 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) Brachydactyly syndrome 90% Camptodactyly of finger 90% Depressed nasal bridge 90% High forehead 90% Long philtrum 90% Malar flattening 90% Abnormality of the palate 50% Coarse hair 50% Low posterior hairline 50% Muscular hypotonia 50% Abnormality of the foot - Autosomal dominant inheritance - Contractures of the interphalangeal joint of the thumb - Flat face - Intellectual disability - Metacarpophalangeal joint contracture - Neonatal hypotonia - Short stature - 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.
Question: What are the symptoms of VLCAD deficiency ?

Answer: What are the signs and symptoms of VLCAD deficiency? There are three forms of VLCAD deficiency: a severe, early-onset form; a hepatic (liver) or hypoketotic hypoglycemic form; and a later-onset episodic myopathic form. Signs and symptoms of the severe, early-onset form occur in the first few months of life and include cardiomyopathy (heart disease), pericardial effusion (fluid around the heart), heart arrhythmias (abnormal heart beat), low muscle tone, enlarged liver, and intermittent hypoglycemia (low blood sugar). The heart problems can be life threatening, but are often improved with early treatment and diet modifications. People affected by the hepatic or hypoketotic hypoglycemic form typically develop symptoms during early childhood. These features may include hypoketotic hypoglycemia and enlarged liver (without cardiomyopathy). "Hypoketotic" refers to a low level of ketones, which are produced during the breakdown of fats and used for energy. Hypoglycemia refers to low blood sugar. Together, these signs are called "hypoketotic hypoglycemia." The episodes of hypoglycemia seen in the early-onset form and hepatic/hypoketotic hypoglycemia form can cause a child to feel weak, shaky and/or dizzy with clammy, cold skin. If not treated, it can lead to coma, and possibly death. Periods of hypoglycemia can also occur with other symptoms as part of a metabolic crisis. Signs and symptoms of the later-onset episodic myopathic form may include intermittent rhabdomyolysis (breakdown of muscle), muscle cramps, muscle pain, and exercise intolerance. It is the most common form of VLCAD deficiency.
Question: Is Prothrombin thrombophilia inherited ?

Answer: How is prothrombin thrombophilia inherited? Prothrombin thrombophilia is inherited in an autosomal dominant manner. For this condition, this means that having one mutated copy of the disease-causing gene (F2) in each cell may be sufficient to cause signs or symptoms of the condition. The mutation in the F2 gene that causes prothrombin thrombophilia is called 20210G>A (also called the 20210G>A allele). An individual can be heterozygous (having the mutation in only one copy of the F2 gene) or homozygous (having a mutation in both copies of the F2 gene). Heterozygosity results in an increased risk for thrombosis; homozygosity results in more severe thrombophilia and/or increased risk for thrombosis. All individuals reported to date with prothrombin thrombophilia who are heterozygous for the 20210G>A allele have had an affected parent. Because of the relatively high prevalence of this allele in the general population, occasionally one parent is homozygous or both parents are heterozygous for this allele. When an individual who is heterozygous for the 20210G>A allele has children, each child has a 50% (1 in 2) risk to inherit that allele and also be heterozygous. An individual who is homozygous will always pass one of the 20210G>A alleles to each of his/her children. If two heterozygotes have children together, each child has a 25% (1 in 4) risk to be homozygous (having 2 mutated copies), a 50% risk to be heterozygous like each parent, and a 25% risk to inherit 2 normal copies of the F2 gene.
Question: What are the symptoms of Wellesley Carmen French syndrome ?

Answer: What are the signs and symptoms of Wellesley Carmen French syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Wellesley Carmen French 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 oral cavity 50% Cataract 50% Cavernous hemangioma 50% Epicanthus 50% Hypermetropia 50% Low-set, posteriorly rotated ears 50% Ptosis 50% Short stature 50% Umbilical hernia 50% Accessory oral frenulum - Anteverted nares - Autosomal dominant inheritance - Blepharophimosis - Curly hair - Posterior polar cataract - Posteriorly rotated ears - Short nose - Short palpebral fissure - Upslanted palpebral fissure - 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.
Question: What is (are) Neuronal Migration Disorders ?

Answer: Neuronal migration disorders (NMDs) are a group of birth defects caused by the abnormal migration of neurons in the developing brain and nervous system. In the developing brain, neurons must migrate from the areas where they are born to the areas where they will settle into their proper neural circuits. Neuronal migration, which occurs as early as the second month of gestation, is controlled by a complex assortment of chemical guides and signals. When these signals are absent or incorrect, neurons do not end up where they belong. This can result in structurally abnormal or missing areas of the brain in the cerebral hemispheres, cerebellum, brainstem, or hippocampus. The structural abnormalities found in NMDs include schizencephaly, porencephaly, lissencephaly, agyria, macrogyria, polymicrogyria, pachygyria, microgyria, micropolygyria, neuronal heterotopias (including band heterotopia), agenesis of the corpus callosum, and agenesis of the cranial nerves. Symptoms vary according to the abnormality, but often feature poor muscle tone and motor function, seizures, developmental delays, impaired cognitive development, failure to grow and thrive, difficulties with feeding, swelling in the extremities, and a smaller than normal head. Most infants with an NMD appear normal, but some disorders have characteristic facial or skull features that can be recognized by a neurologist. Several genetic abnormalities in children with NMDs have been identified. Defects in genes that are involved in neuronal migration have been associated with NMDs, but the role they play in the development of these disorders is not yet well-understood. More than 25 syndromes resulting from abnormal neuronal migration have been described. Among them are syndromes with several different patterns of inheritance; genetic counseling thus differs greatly between syndromes.
Question: What are the genetic changes related to familial acute myeloid leukemia with mutated CEBPA ?

Answer: As its name suggests, familial acute myeloid leukemia with mutated CEBPA is caused by mutations in the CEBPA gene that are passed down within families. These inherited mutations are present throughout a person's life in virtually every cell in the body.  The CEBPA gene provides instructions for making a protein called CCAAT/enhancer-binding protein alpha. This protein is a transcription factor, which means that it attaches (binds) to specific regions of DNA and helps control the activity of certain genes. It is believed to act as a tumor suppressor, helping to prevent cells from growing and dividing too rapidly or in an uncontrolled way.  CEBPA gene mutations that cause familial acute myeloid leukemia with mutated CEBPA result in a shorter version of CCAAT/enhancer-binding protein alpha. This shorter version is produced from one copy of the CEBPA gene in each cell, and it is believed to interfere with the tumor suppressor function of the normal protein produced from the second copy of the gene. Absence of the tumor suppressor function of CCAAT/enhancer-binding protein alpha is believed to disrupt the regulation of blood cell production in the bone marrow, leading to the uncontrolled production of abnormal cells that occurs in acute myeloid leukemia.  In addition to the inherited mutation in one copy of the CEBPA gene in each cell, most individuals with familial acute myeloid leukemia with mutated CEBPA also acquire a mutation in the second copy of the CEBPA gene. The additional mutation, which is called a somatic mutation, is found only in the leukemia cells and is not inherited. The somatic CEBPA gene mutations identified in leukemia cells generally decrease the DNA-binding ability of CCAAT/enhancer-binding protein alpha. The effect of this second mutation on the development of acute myeloid leukemia is unclear.
Question: What are the genetic changes related to Alzheimer disease ?

Answer: Most cases of early-onset Alzheimer disease are caused by gene mutations that can be passed from parent to child. Researchers have found that this form of the disorder can result from mutations in one of three genes: APP, PSEN1, or PSEN2. When any of these genes is altered, large amounts of a toxic protein fragment called amyloid beta peptide are produced in the brain. This peptide can build up in the brain to form clumps called amyloid plaques, which are characteristic of Alzheimer disease. A buildup of toxic amyloid beta peptide and amyloid plaques may lead to the death of nerve cells and the progressive signs and symptoms of this disorder.  Some evidence indicates that people with Down syndrome have an increased risk of developing Alzheimer disease. Down syndrome, a condition characterized by intellectual disability and other health problems, occurs when a person is born with an extra copy of chromosome 21 in each cell. As a result, people with Down syndrome have three copies of many genes in each cell, including the APP gene, instead of the usual two copies. Although the connection between Down syndrome and Alzheimer disease is unclear, the production of excess amyloid beta peptide in cells may account for the increased risk. People with Down syndrome account for less than 1 percent of all cases of Alzheimer disease.  The causes of late-onset Alzheimer disease are less clear. The late-onset form does not clearly run in families, although clusters of cases have been reported in some families. This disorder is probably related to variations in one or more genes in combination with lifestyle and environmental factors. A gene called APOE has been studied extensively as a risk factor for the disease. In particular, a variant of this gene called the e4 allele seems to increase an individual's risk for developing late-onset Alzheimer disease. Researchers are investigating many additional genes that may play a role in Alzheimer disease risk.
Question: What are the genetic changes related to allergic asthma ?

Answer: The cause of allergic asthma is complex. It is likely that a combination of multiple genetic and environmental factors contribute to development of the condition. Doctors believe genes are involved because having a family member with allergic asthma or another allergic disorder increases a person's risk of developing asthma.  Studies suggest that more than 100 genes may be associated with allergic asthma, but each seems to be a factor in only one or a few populations. Many of the associated genes are involved in the body's immune response. Others play a role in lung and airway function.  There is evidence that an unbalanced immune response underlies allergic asthma. While there is normally a balance between type 1 (or Th1) and type 2 (or Th2) immune reactions in the body, many individuals with allergic asthma predominantly have type 2 reactions. Type 2 reactions lead to the production of immune proteins called IgE antibodies and the generation of other factors that predispose to bronchial hyperresponsiveness. Normally, the body produces IgE antibodies in response to foreign invaders, particularly parasitic worms. For unknown reasons, in susceptible individuals, the body reacts to an allergen as if it is harmful, producing IgE antibodies specific to it. Upon later encounters with the allergen, IgE antibodies recognize it, which stimulates an immune response, causing bronchoconstriction, airway swelling, and mucus production.  Not everyone with a variation in one of the allergic asthma-associated genes develops the condition; exposure to certain environmental factors also contributes to its development. Studies suggest that these exposures trigger epigenetic changes to the DNA. Epigenetic changes modify DNA without changing the DNA sequence. They can affect gene activity and regulate the production of proteins, which may influence the development of allergies in susceptible individuals.
Question: What are the symptoms of Mental retardation, macrocephaly, short stature and craniofacial dysmorphism ?

Answer: What are the signs and symptoms of Mental retardation, macrocephaly, short stature and craniofacial dysmorphism? The Human Phenotype Ontology provides the following list of signs and symptoms for Mental retardation, macrocephaly, short stature and craniofacial dysmorphism. 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) Astigmatism 5% Myopia 5% Patellar subluxation 5% Psychosis 5% Abnormality of the musculature - Adrenal medullary hypoplasia - Broad forehead - Coarse facial features - Delayed speech and language development - Dolichocephaly - Intellectual disability - Macrocephaly - Mandibular prognathia - Megalencephaly - Optic atrophy - Pointed chin - 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.
Question: What are the symptoms of Grubben de Cock Borghgraef syndrome ?

Answer: 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.
Question: What are the symptoms of Noonan syndrome 4 ?

Answer: What are the signs and symptoms of Noonan syndrome 4? The Human Phenotype Ontology provides the following list of signs and symptoms for Noonan syndrome 4. 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) Prolonged bleeding time 5% Autosomal dominant inheritance - Blue irides - Cryptorchidism - Cubitus valgus - Curly hair - Dental malocclusion - Depressed nasal bridge - Epicanthus - High anterior hairline - Hypertelorism - Hypertrophic cardiomyopathy - Low-set, posteriorly rotated ears - Macrocephaly - Pectus excavatum of inferior sternum - Ptosis - Pulmonic stenosis - Scoliosis - Short neck - Short stature - Sparse eyebrow - Thick lower lip vermilion - Ventricular septal defect - Webbed neck - Wide intermamillary distance - 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.
Question: What are the symptoms of Amelogenesis imperfecta nephrocalcinosis ?

Answer: What are the signs and symptoms of Amelogenesis imperfecta nephrocalcinosis? The Human Phenotype Ontology provides the following list of signs and symptoms for Amelogenesis imperfecta nephrocalcinosis. 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 calcium-phosphate metabolism 90% Abnormality of dental color 90% Abnormality of dental enamel 90% Delayed eruption of teeth 90% Nephropathy 90% Amelogenesis imperfecta - Autosomal recessive inheritance - Dagger-shaped pulp calcifications - Delayed eruption of permanent teeth - Enuresis - Gingival overgrowth - Impaired renal concentrating ability - Nephrocalcinosis - Overgrowth - Polyuria - Renal insufficiency - 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.
Question: What are the symptoms of Carbamoyl phosphate synthetase 1 deficiency ?

Answer: What are the signs and symptoms of Carbamoyl phosphate synthetase 1 deficiency? The Human Phenotype Ontology provides the following list of signs and symptoms for Carbamoyl phosphate synthetase 1 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) Aminoaciduria 90% Hyperammonemia 90% Muscular hypotonia 90% Respiratory insufficiency 90% Seizures 90% Stroke 5% Ataxia - Autosomal recessive inheritance - Cerebral edema - Coma - Episodic ammonia intoxication - Failure to thrive - Hypoargininemia - Intellectual disability - Irritability - Lethargy - Low plasma citrulline - Protein avoidance - Respiratory alkalosis - Vomiting - 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.