fenil210/Med-Lamma huggingface dataset:
What is (are) Paroxysmal extreme pain disorder ?
Paroxysmal extreme pain disorder is a form of peripheral neuropathy characterized by skin redness and warmth (flushing) and attacks of severe pain in various parts of the body. Early in life, the pain is often concentrated in the lower part of the body and may be triggered by a bowel movement. As a person ages, the location of the pain may change, with attacks affecting the head and face. Triggers of these pain attacks include changes in temperature, emotional distress or eating spicy foods and drinking cold beverages. Paroxysmal extreme pain disorder is caused by mutations  in the SCN9A gene. This condition is inherited in an autosomal dominant pattern. Treatment may include medications used to manage chronic neuropathic pain (anticonvulsants) such as the sodium channel blocker carbamazepine. + GARD + Paroxysmal extreme pain disorder
What are the symptoms of Paroxysmal extreme pain disorder ?
What are the signs and symptoms of Paroxysmal extreme pain disorder? The Human Phenotype Ontology provides the following list of signs and symptoms for Paroxysmal extreme pain disorder. 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) Constipation 50% Autosomal dominant inheritance - Bradycardia - Impaired pain sensation - Lacrimation abnormality - Mandibular pain - Neonatal onset - Ocular pain - Tachycardia - 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. + GARD + Paroxysmal extreme pain disorder
What is (are) Cushing's syndrome ?
Cushing's syndrome is an endocrine disorder caused by prolonged exposure of the body's tissues to high levels of cortisol (a hormone produced by the adrenal gland). It most commonly affects adults between age 20 and 50 years. Signs and symptoms of Cushing's syndrome include upper body obesity, fatigue, muscle weakness, high blood pressure, backache, high blood sugar, easy bruising and bluish-red stretch marks on the skin. Affected women may also experience irregular menstrual periods and increased growth of body and facial hair. This condition may be caused by a variety of factors including long-term use of corticosteroid medications, tumors in the pituitary gland or adrenal adenomas.Treatment depends on the underlying cause, but may include decreasing the dosage of corticosteroids or surgery to remove tumors. + GARD + Cushing's syndrome
What are the symptoms of Cushing's syndrome ?
What are the signs and symptoms of Cushing's syndrome? The signs and symptoms of Cushing's syndrome may include: Upper body obesity Severe fatigue Muscle weakness High blood pressure Backache Elevated blood sugar Easy bruising Bluish-red stretch marks on the skin Neurological issues Women with Cushing's syndrome may also experience increased growth of facial and body hair, and menstrual periods may become irregular or cease. Men may have decreased fertility, diminished sexual desire, and/or erectile dysfunction. The Human Phenotype Ontology provides the following list of signs and symptoms for Cushing's 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 adipose tissue 90% Erectile abnormalities 90% Hypercortisolism 90% Round face 90% Thin skin 90% Truncal obesity 90% Acne 50% Bruising susceptibility 50% Decreased fertility 50% Diabetes mellitus 50% Hypertension 50% Hypertrichosis 50% Hypokalemia 50% Muscle weakness 50% Nephrolithiasis 50% Recurrent fractures 50% Reduced bone mineral density 50% Striae distensae 50% Abdominal pain 7.5% Abnormal renal physiology 7.5% Abnormality of lipid metabolism 7.5% Abnormality of the gastric mucosa 7.5% Aseptic necrosis 7.5% Cataract 7.5% Hypercalcemia 7.5% Hypernatremia 7.5% Hypertrophic cardiomyopathy 7.5% Myopathy 7.5% Neoplasm of the adrenal gland 7.5% Reduced consciousness/confusion 7.5% Secondary amenorrhea 7.5% Sleep disturbance 7.5% Telangiectasia of the skin 7.5% Adult onset - Agitation - Anxiety - Autosomal dominant inheritance - Decreased circulating ACTH level - Depression - Increased circulating cortisol level - Kyphosis - Macronodular adrenal hyperplasia - Mental deterioration - Mood changes - Neoplasm - Osteopenia - Osteoporosis - Primary hypercorticolism - Psychosis - Skeletal muscle atrophy - Sporadic - 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. + GARD + Cushing's syndrome
What causes Cushing's syndrome ?
What causes Cushing's syndrome? Cushing's syndrome is caused by long-term exposure of the body's tissues to cortisol, a hormone that is naturally produced by the adrenal gland. Exposure to too much cortisol can result from long-term use of corticosteriod medications used to treat inflammatory illnesses. Pituitary adenomas (benign tumors of the pituitary gland) or tumors of the adrenal gland may also cause cortisol imbalances. + GARD + Cushing's syndrome
Is Cushing's syndrome inherited ?
Is Cushing's syndrome inherited? Most cases of Cushing's syndrome are not inherited. However, Cushing's syndrome rarely occurs in inherited conditions characterized by the development of tumors of one or more endocrine gland. These conditions may include: Primary pigmented micronodular adrenal disease, in which children or young adults develop small cortisol-producing tumors of the adrenal glands, Multiple endocrine neoplasia type 1 (MEN1), in which hormone-secreting tumors of the parathyroid glands, pancreas, and pituitary develop. Cushing's syndrome in MEN1 may be due to pituitary or adrenal tumors. + GARD + Cushing's syndrome
What is (are) Dowling-Degos disease ?
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. + GARD + Dowling-Degos disease
What are the symptoms of Dowling-Degos disease ?
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. + GARD + Dowling-Degos disease
What are the treatments for Dowling-Degos disease ?
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. + GARD + Dowling-Degos disease
What is (are) Noonan syndrome 2 ?
Noonan syndrome is a genetic disorder that causes abnormal development of multiple parts of the body. Features of Noonan syndrome may include a distinctive facial appearance, short stature, a broad or webbed neck, congenital heart defects, bleeding problems, skeletal malformations, and developmental delay. Noonan syndrome may be caused by mutations in any one of several genes including the PTPN11, KRAS, RAF1, SOS1, NRAS and BRAF genes. It is sometimes referred to as a specific subtype based on the responsible gene in an affected person. Noonan syndrome is typically inherited in an autosomal dominant manner but many cases are due to a new mutation and are not inherited from an affected parent. + GARD + Noonan syndrome 2
What are the treatments for Noonan syndrome 2 ?
How might Noonan syndrome be treated? Management generally focuses on the specific signs and symptoms present in each person. Treatments for the complications of Noonan syndrome (such as cardiovascular abnormalities) are generally standard and do not differ from treatment in the general population. Developmental disabilities are addressed by early intervention programs and individualized education strategies. Treatment for serious bleeding depends upon the specific factor deficiency or platelet abnormality. Growth hormone treatment increases growth velocity. More detailed information about treatment for Noonan syndrome can be viewed on the GeneReviews Web site. + GARD + Noonan syndrome 2
What is (are) Progressive myoclonic epilepsy ?
Progressive myoclonus epilepsy (PME) refers to a group of inherited conditions involving the central nervous system and representing more than a dozen different diseases. These diseases share certain features, including a worsening of symptoms over time and the presence of both muscle contractions (myoclonus) and seizures (epilepsy). PME is different from myoclonic epilepsy. Other features include dementia, dystonia, and trouble walking or speaking. These rare disorders often get worse over time and sometimes are fatal. Many of these PME diseases begin in childhood or adolescence. + GARD + Progressive myoclonic epilepsy
What are the symptoms of Renal hamartomas nephroblastomatosis and fetal gigantism ?
What are the signs and symptoms of Renal hamartomas nephroblastomatosis and fetal gigantism? The Human Phenotype Ontology provides the following list of signs and symptoms for Renal hamartomas nephroblastomatosis and fetal gigantism. 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 philtrum 90% Cognitive impairment 90% Deeply set eye 90% Hepatomegaly 90% High forehead 90% Macrocephaly 90% Muscular hypotonia 90% Open mouth 90% Round face 90% Short nose 90% Tall stature 90% Wide nasal bridge 90% Abnormality of the palate 50% Abnormality of the pancreas 50% Anteverted nares 50% Broad alveolar ridges 50% Cryptorchidism 50% Epicanthus 50% Hyperinsulinemia 50% Hypoplasia of penis 50% Low-set, posteriorly rotated ears 50% Nephroblastoma (Wilms tumor) 50% Polyhydramnios 50% Thickened helices 50% Dolichocephaly 7.5% Hernia of the abdominal wall 7.5% Ptosis 7.5% Seizures 7.5% Single transverse palmar crease 7.5% Abnormal facial shape - Agenesis of corpus callosum - Ascites - Autosomal recessive inheritance - Congenital diaphragmatic hernia - Depressed nasal bridge - Distal ileal atresia - Edema - Hypoplasia of the abdominal wall musculature - Interrupted aortic arch - Large for gestational age - Long upper lip - Low-set ears - Nephroblastomatosis - Nephrogenic rest - Pancreatic islet-cell hyperplasia - Renal hamartoma - Tented upper lip vermilion - Visceromegaly - Volvulus - 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. + GARD + Renal hamartomas nephroblastomatosis and fetal gigantism
What are the symptoms of Alopecia intellectual disability syndrome 2 ?
What are the signs and symptoms of Alopecia intellectual disability syndrome 2? The Human Phenotype Ontology provides the following list of signs and symptoms for Alopecia intellectual disability syndrome 2. 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) Alopecia universalis - Autosomal recessive inheritance - Intellectual disability - 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. + GARD + Alopecia intellectual disability syndrome 2
What are the symptoms of Aromatase excess syndrome ?
What are the signs and symptoms of Aromatase excess syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Aromatase excess 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) Accelerated skeletal maturation - Autosomal dominant inheritance - Gynecomastia - 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. + GARD + Aromatase excess syndrome
What are the symptoms of Ring chromosome 10 ?
What are the signs and symptoms of Ring chromosome 10? The Human Phenotype Ontology provides the following list of signs and symptoms for Ring chromosome 10. 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 antihelix 90% Abnormality of the nipple 90% Abnormality of the nose 90% Aganglionic megacolon 90% Aplasia/Hypoplasia affecting the eye 90% Cognitive impairment 90% Decreased body weight 90% Frontal bossing 90% Hypertelorism 90% Hypocalcemia 90% Intrauterine growth retardation 90% Large earlobe 90% Long philtrum 90% Low-set, posteriorly rotated ears 90% Muscular hypotonia 90% Pectus excavatum 90% Renal hypoplasia/aplasia 90% Sandal gap 90% Seizures 90% Short neck 90% Tapered finger 90% Thin vermilion border 90% 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. + GARD + Ring chromosome 10
What is (are) Dentinogenesis imperfecta ?
Dentinogenesis imperfecta is a condition that results in issues with tooth development, causing the teeth to be translucent and discolored (most often a blue-gray or yellow-brown in color). Individuals with this disorder tend to have teeth that are weaker than normal which leads to increased wear, breakage, and loss of the teeth. This can affect both primary (baby) and permanent teeth. Dentinogenesis imperfecta is caused by mutations in the DSPP gene and is inherited in an autosomal dominant manner. There are three types of dentinogenesis imperfecta. Type I: occurs in people who have osteogenesis imperfecta, a genetic condition in which bones are brittle, causing them to break easily. Type II and type III: usually occur in people without another inherited disorder. Some families with type II also have progressive hearing loss. Type III was first identified in a population in Brandywine, Maryland. Some researchers believe that dentinogenesis imperfecta type II and type III, along with a similar condition called dentin dysplasia type II, are actually just different forms of a single disorder. + GARD + Dentinogenesis imperfecta
What causes Dentinogenesis imperfecta ?
What causes dentinogenesis imperfecta? Mutations in the DSPP gene cause dentinogenesis imperfecta. The DSPP gene provides instructions for making three proteins that are essential for normal tooth development. These proteins are involved in the formation of dentin, which is a bone-like substance that makes up the protective middle layer of each tooth. DSPP mutations alter the proteins made from the gene, leading to the production of abnormally soft dentin. Teeth with defective dentin are discolored, weak, and more likely to decay and break. It is unclear how DSPP mutations are related to hearing loss in some families with dentinogenesis imperfecta type II. + GARD + Dentinogenesis imperfecta
Is Dentinogenesis imperfecta inherited ?
How do people inherit dentinogenesis imperfecta? Dentinogenesis imperfecta is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In most cases, an affected person has one parent with the condition. + GARD + Dentinogenesis imperfecta