falan42/medcuad_data huggingface dataset:
Topic: BRCA2 hereditary breast and ovarian cancer syndrome
Question: What is (are) BRCA2 hereditary breast and ovarian cancer syndrome ?
Answer: BRCA2 hereditary breast and ovarian cancer syndrome (BRCA2 HBOC) is an inherited condition that is characterized by an increased risk for a variety of different cancers. Women with this condition have a 49-55% risk of developing breast cancer, a 16-18% risk of developing ovarian cancer and a 62% risk of developing contralateral breast cancer by age 70. Men have a 6% lifetime risk of breast cancer and an increased risk for prostate cancer. Both men and women with BRCA2 HBOC have an elevated risk for pancreatic cancer. BRCA2 HBOC may also be associated with cancers of the stomach, gallbladder, bile duct, esophagus, stomach, fallopian tube, primary peritoneum, and skin; however, these risks are not well defined. This condition is caused by changes (mutations) in the BRCA2 gene and is inherited in an autosomal dominant manner. Management may include high risk cancer screening, chemopreventation and/or prophylactic surgeries.
(Source: GARD)
Topic: BRCA2 hereditary breast and ovarian cancer syndrome
Question: What are the symptoms of BRCA2 hereditary breast and ovarian cancer syndrome ?
Answer: What are the signs and symptoms of BRCA2 hereditary breast and ovarian cancer syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for BRCA2 hereditary breast and ovarian cancer 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) Autosomal dominant inheritance - Breast carcinoma - Multifactorial inheritance - 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.
(Source: GARD)
Topic: Keutel syndrome
Question: What is (are) Keutel syndrome ?
Answer: Keutel syndrome is an inherited condition characterized by cartilage calcification in the ears, nose, larnyx, trachea (voice box), and ribs; pulmonary artery stenoses; brachytelephalangism (short fingers and nails that resemble drumsticks); and facial dysmorphism. Less than 30 cases have been reported in the literature. The majority of affected individuals have been diagnosed during childhood. Other associated features may include hearing loss, recurrent otitis and/or sinusitis, mild intellectual disability, frequent respiratory infections, nasal speech and rarely, seizures, and short stature. This condition is inherited in an autosomal recessive fashion and is caused by mutations in the MGP gene.
(Source: GARD)
Topic: Keutel syndrome
Question: What are the symptoms of Keutel syndrome ?
Answer: What are the signs and symptoms of Keutel syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Keutel 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) Calcification of cartilage 90% Depressed nasal bridge 90% Long face 90% Malar flattening 90% Short distal phalanx of finger 90% Tracheal stenosis 90% Abnormality of the voice 50% Chondrocalcinosis 50% Cognitive impairment 50% Hearing impairment 50% Otitis media 50% Pulmonary hypertension 50% Recurrent respiratory infections 50% Sinusitis 50% Sloping forehead 50% Underdeveloped nasal alae 50% Ventricular septal defect 50% Alopecia 7.5% Aplasia/Hypoplasia of the skin 7.5% Cutis laxa 7.5% Optic atrophy 7.5% Seizures 7.5% Short stature 7.5% Autosomal recessive inheritance - Calcification of the auricular cartilage - Cartilaginous ossification of larynx - Cartilaginous ossification of nose - Cerebral calcification - Chronic sinusitis - Costal cartilage calcification - Deep philtrum - Epiphyseal stippling - Growth abnormality - Hypoplasia of midface - Intellectual disability, mild - Macrotia - Nasal speech - Peripheral pulmonary artery stenosis - Premature fusion of phalangeal epiphyses - Pulmonary artery hypoplasia - Pulmonic stenosis - Recurrent bronchitis - Recurrent otitis media - Short hallux - Short thumb - Spontaneous abortion - 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.
(Source: GARD)
Topic: Maternal hyperphenylalaninemia
Question: What are the symptoms of Maternal hyperphenylalaninemia ?
Answer: What are the signs and symptoms of Maternal hyperphenylalaninemia? The Human Phenotype Ontology provides the following list of signs and symptoms for Maternal hyperphenylalaninemia. 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% Cognitive impairment 50% Aggressive behavior - Anxiety - Attention deficit hyperactivity disorder - Autosomal recessive inheritance - Blue irides - Cataract - Cerebral calcification - Dry skin - Eczema - Fair hair - Generalized hypopigmentation - Hyperphenylalaninemia - Hyperreflexia - Intellectual disability - Irritability - Maternal hyperphenylalaninemia - Microcephaly - Obsessive-compulsive behavior - Phenylpyruvic acidemia - Psychosis - Reduced phenylalanine hydroxylase activity - Scleroderma - Seizures - Self-mutilation - 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.
(Source: GARD)
Topic: Jung Wolff Back Stahl syndrome
Question: What are the symptoms of Jung Wolff Back Stahl syndrome ?
Answer: What are the signs and symptoms of Jung Wolff Back Stahl syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Jung Wolff Back Stahl 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) Aplasia/Hypoplasia of the cerebellum 90% Cognitive impairment 90% Depressed nasal bridge 90% Dry skin 90% Hypothyroidism 90% Low posterior hairline 90% Microcephaly 90% Muscular hypotonia 90% Recurrent respiratory infections 90% Round face 90% Tracheal stenosis 90% Wide nasal bridge 90% Abnormal form of the vertebral bodies 50% Abnormality of the genital system 50% Aplasia/Hypoplasia of the corpus callosum 50% Telecanthus 50% Abnormality of the hair - Abnormality of the teeth - Abnormality of the thorax - Anterior segment dysgenesis - Cerebellar hypoplasia - Congenital hypothyroidism - Dandy-Walker malformation - Growth delay - Growth hormone deficiency - Hip dysplasia - Hypoplasia of penis - Iris coloboma - Short foot - Short neck - Stenosis of the external auditory canal - 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.
(Source: GARD)
Topic: Chondrodysplasia punctata 1, X-linked recessive
Question: What is (are) Chondrodysplasia punctata 1, X-linked recessive ?
Answer: Chondrodysplasia punctata 1, X-linked recessive (CDPX1) is a genetic disorder present from birth that affects bone and cartilage development. On x-ray, affected infants have characteristic spots at the ends of their bones. These spots are called chondrodysplasia punctata or stippled epiphyses and typically disappear between age 2 and 3. Additional common features of CDPX1 are shortened fingers and a flat nose. Some people with this condition have breathing abnormalities, hearing loss, abnormalities of the spinal bones in the neck, and delayed intellectual development. CDPX1 is caused by changes in the ARSE gene, which is located on the X chromosome. This condition is inherited in an X-linked recessive manner and occurs almost exclusively in males. Most affected individuals have a normal lifespan, although some individuals experience complications that can be life-threatening.
(Source: GARD)
Topic: Chondrodysplasia punctata 1, X-linked recessive
Question: What are the symptoms of Chondrodysplasia punctata 1, X-linked recessive ?
Answer: What are the signs and symptoms of Chondrodysplasia punctata 1, X-linked recessive? The Human Phenotype Ontology provides the following list of signs and symptoms for Chondrodysplasia punctata 1, X-linked recessive. 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 vertebral column - Anosmia - Cataract - Depressed nasal bridge - Epiphyseal stippling - Hearing impairment - Hypogonadism - Ichthyosis - Microcephaly - Short distal phalanx of finger - Short nasal septum - Short nose - Short stature - X-linked recessive inheritance - 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.
(Source: GARD)
Topic: Adult neuronal ceroid lipofuscinosis
Question: What is (are) Adult neuronal ceroid lipofuscinosis ?
Answer: Adult neuronal ceroid lipofuscinosis is a rare condition that affects the nervous system. Signs and symptoms usually begin around age 30, but they can develop anytime between adolescence and late adulthood. There are two forms of adult neuronal ceroid lipofuscinosis that are differentiated by their underlying genetic cause, mode of inheritance and certain symptoms: Type A is characterized by a combination of seizures and uncontrollable muscle jerks (myoclonic epilepsy); dementia; difficulties with muscle coordination (ataxia); involuntary movements such as tremors or tics; and dysarthria. It is caused by changes (mutations) in the CLN6 or PPT1 gene and is inherited in an autosomal recessive manner. Type B shares many features with type A; however, affected people also experience behavioral abnormalities and do not develop myoclonic epilepsy or dysarthria. It can be caused by mutations in the DNAJC5 or CTSF gene and is inherited in an autosomal dominant manner. Treatment options for adult neuronal ceroid lipofuscinosis are limited to therapies that can help relieve some of the symptoms.
(Source: GARD)
Topic: Adult neuronal ceroid lipofuscinosis
Question: What are the symptoms of Adult neuronal ceroid lipofuscinosis ?
Answer: What are the signs and symptoms of Adult neuronal ceroid lipofuscinosis? The Human Phenotype Ontology provides the following list of signs and symptoms for Adult neuronal ceroid lipofuscinosis. 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) Abnormal pyramidal signs 90% Abnormality of extrapyramidal motor function 90% Behavioral abnormality 90% Developmental regression 90% Incoordination 90% Involuntary movements 90% Seizures 90% Retinopathy 7.5% Visual impairment 7.5% 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.
(Source: GARD)
Topic: Myhre syndrome
Question: What is (are) Myhre syndrome ?
Answer: Myhre syndrome is a rare inherited disorder characterized by intellectual disability, short stature, unusual facial features, and various bone (skeletal) abnormalities. Other findings may include hearing impairment, abnormal enlargement of the muscles (muscle hypertrophy), and/or joint stiffness. Myhre syndrome is caused by mutations in the SMAD4 gene. This condition is inherited in an autosomal dominant pattern. Most cases are due to a new mutation.
(Source: GARD)
Topic: Myhre syndrome
Question: What causes Myhre syndrome ?
Answer: What causes Myhre syndrome? Myhre syndrome is caused by mutations in the SMAD4 gene. This gene provides instructions for making a protein involved in transmitting chemical signals from the cell surface to the nucleus. This signaling pathway, called the transforming growth factor beta (TGF-) pathway, allows the environment outside the cell to affect how the cell produces other proteins. As part of this pathway, the SMAD4 protein interacts with other proteins to control the activity of particular genes. These genes influence many areas of development. Some researchers believe that the SMAD4 gene mutations that cause Myhre syndrome impair the ability of the SMAD4 protein to attach (bind) properly with the other proteins involved in the signaling pathway. Other studies have suggested that these mutations result in an abnormally stable SMAD4 protein that remains active in the cell longer. Changes in SMAD4 binding or availability may result in abnormal signaling in many cell types, which affects development of several body systems and leads to the signs and symptoms of Myhre syndrome.
(Source: GARD)
Topic: Myhre syndrome
Question: Is Myhre syndrome inherited ?
Answer: How is Myhre syndrome 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. Most cases result from new (de novo) mutations in the gene that occur 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.
(Source: GARD)
Topic: Myhre syndrome
Question: What are the treatments for Myhre syndrome ?
Answer: How might Myhre syndrome be treated? Treatment of this condition is symptomatic and supportive. Children with Myhre syndrome may require management by a team of specialists, including pediatricians, speech pathologists, orthopedists (bone specialists), cardiologists (heart specialists), audiologists (hearing specialists), and physical therapists. Early intervention is important to help ensure that children with Myhre syndrome reach their full potential.
(Source: GARD)
Topic: Maple syrup urine disease type 1B
Question: What are the symptoms of Maple syrup urine disease type 1B ?
Answer: What are the signs and symptoms of Maple syrup urine disease type 1B? The Human Phenotype Ontology provides the following list of signs and symptoms for Maple syrup urine disease type 1B. 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) Ataxia - Autosomal recessive inheritance - Cerebral edema - Coma - Elevated plasma branched chain amino acids - Feeding difficulties in infancy - Growth abnormality - Hypertonia - Hypoglycemia - Intellectual disability - Ketosis - Lactic acidosis - Lethargy - 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.
(Source: GARD)
Topic: Cardioskeletal syndrome Kuwaiti type
Question: What are the symptoms of Cardioskeletal syndrome Kuwaiti type ?
Answer: What are the signs and symptoms of Cardioskeletal syndrome Kuwaiti type? The Human Phenotype Ontology provides the following list of signs and symptoms for Cardioskeletal syndrome Kuwaiti type. 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) Abnormal form of the vertebral bodies 90% Abnormality of the metaphyses 90% Accelerated skeletal maturation 90% Atria septal defect 90% Limb undergrowth 90% Narrow chest 90% Short stature 90% Ventricular septal defect 90% Abnormality of the mitral valve 50% Abnormality of the pulmonary artery 50% Abnormality of the ribs 50% Abnormality of the tricuspid valve 50% Kyphosis 50% Abnormality of cardiovascular system morphology - Autosomal recessive inheritance - Skeletal dysplasia - 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.
(Source: GARD)
Topic: Benign hereditary chorea
Question: What is (are) Benign hereditary chorea ?
Answer: Benign hereditary chorea (BHC) is a rare movement disorder that begins in infancy or childhood. Signs and symptoms in infants may include low muscle tone, involuntary movements (chorea), lung infections, and respiratory distress. Signs and symptoms in children may include delayed motor and walking milestones, jerky muscle movements (myoclonus), upper limb dystonia, motor tics, and vocal tics. The chorea often improves with time. In some cases, myoclonus persists or worsens. Children with BHC can have normal intellect, but may have learning and behavior problems. Other signs and symptoms include thyroid problems (e.g., hypothyroidism) and lung disease (e.g., recurring infections). Treatment is tailored to each child. Tetrabenazine and levodopa have been tried in individual cases with some success. BHC is caused by mutations in the NKX2-1 gene (also known as the TITF1 gene). It is passed through families in an autosomal dominant fashion.
(Source: GARD)