sarnsrun/medquad huggingface dataset:
Topic: Potocki-Shaffer syndrome
Question: What are the treatments for Potocki-Shaffer syndrome ?
Answer: How might Potocki-Shaffer be treated? The treatment depends on the signs and symptoms present in the affected individual. The following treatment options or recommendations might be offered: Treatment of Wilms tumor, which may include surgery to remove the kidney, radiation therapy and chemotherapy. Treatment of aniridia is aimed at maintaining vision. Glaucoma or cataracts can be treated with medication or surgery. Contact lenses should be avoided because they can damage the cornea. In cases of abnormalities in the testes or ovaries, surgery may be needed to remove them or to prevent cancer (gonadoblastoma). After they testes or ovaries are removed hormone replacement is needed. Children with undescended testicles (cryptorchidism) may also need surgery. In a study with 6 patients and a review of 31 previously reported cases of Potocki-Shaffer syndrome, the researchers made several recommendations for the care of children with the syndrome. These include: Referral to early childhood intervention and a developmental-behavioral specialist at the time of diagnosis; A full skeletal survey at diagnosis or by age three; Screening for strabismus and nystagmus by the pediatrician (at every well-child examination), and referral to a pediatric ophthalmologist at diagnosis or by age six months; Hearing loss evaluations in infants with the syndrome and after that at three months of age; audiogram at age one year and annually thereafter; Fluorescence in situ hybridization (FISH) studies and genetic counseling should be offered to the parents of a child with Potocki-Shaffer syndrome; Referral to a specialist in development and behavior at the time of diagnosis for vision therapy, physical, occupational and speech therapy; Abdominal and kidney ultrasound due to the possible risk of developing a Wilms' tumor, especially in those individuals who have a deletion in the 11p13 region;  Cardiac evaluation to detect any heart abnormalities; Thyroid hormone level measurements to detect the hypothyroidism; and MRI scans are recommended if the individual has seizures, microcephaly, or global developmental delay.  Some individuals with Potocki-Shaffer syndrome, WAGR syndrome, and renal insufficiency may be treated with dialysis or kidney transplant.
Source: GARD
Topic: Charcot-Marie-Tooth disease type 1B
Question: What are the symptoms of Charcot-Marie-Tooth disease type 1B ?
Answer: What are the signs and symptoms of Charcot-Marie-Tooth disease type 1B? The Human Phenotype Ontology provides the following list of signs and symptoms for Charcot-Marie-Tooth 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) Kyphoscoliosis 33% Peripheral demyelination 33% Areflexia - Autosomal dominant inheritance - Cold-induced muscle cramps - Decreased motor nerve conduction velocity - Decreased number of peripheral myelinated nerve fibers - Distal muscle weakness - Distal sensory impairment - Foot dorsiflexor weakness - Hammertoe - Heterogeneous - Hypertrophic nerve changes - Hyporeflexia - Insidious onset - Juvenile onset - Myelin outfoldings - Onion bulb formation - Pes cavus - Slow progression - Steppage gait - Tonic pupil - Ulnar claw - Variable expressivity - 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: Taurodontia absent teeth sparse hair
Question: What are the symptoms of Taurodontia absent teeth sparse hair ?
Answer: What are the signs and symptoms of Taurodontia absent teeth sparse hair? The Human Phenotype Ontology provides the following list of signs and symptoms for Taurodontia absent teeth sparse hair. 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 hair quantity 90% Reduced number of teeth 90% Taurodontia 90% Abnormality of the fingernails 50% Broad alveolar ridges 50% Hypoplastic toenails 50% Autosomal recessive inheritance - Oligodontia - Sparse hair - 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: Ichthyosis-mental retardation syndrome with large keratohyalin granules in the skin
Question: What are the symptoms of Ichthyosis-mental retardation syndrome with large keratohyalin granules in the skin ?
Answer: What are the signs and symptoms of Ichthyosis-mental retardation syndrome with large keratohyalin granules in the skin? The Human Phenotype Ontology provides the following list of signs and symptoms for Ichthyosis-mental retardation syndrome with large keratohyalin granules in the skin. 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 recessive inheritance - Generalized ichthyosis - 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.
Source: GARD
Topic: Isolated levocardia
Question: What is (are) Isolated levocardia ?
Answer: Isolated levocardia is a type of situs inversus where the heart is located in the normal position, but there is a mirror-image reversal of other internal organs. Isolated levocardia may occur alone or with heart defects, heart rhythm abnormalities (sick sinus syndrome or atrioventricular node disorder), spleen defects (absent, underdeveloped, or extra spleen), and intestinal malrotation. Long term outlook varies depending on the presence/absence of associated abnormalities, particularly heart defects. The cause of isolated levocardia is not known. It is not usually associated with chromosome abnormalities.[7363]
Source: GARD
Topic: Isolated levocardia
Question: How to diagnose Isolated levocardia ?
Answer: Has MRI or other tests been helpful in planning the care of infants prenatally diagnosed with isolated levocardia? Yes. In isolated levocardia it can be difficult to determine the position of the internal organs. Ultrasonography, CT, and MRI have been used alone and in combination to improve imaging of the internal organs and major blood vessels. In addition, a careful assessment of the spleen in the newborn is important. People with spleen dysfunction are at an increased risk for serious infection and benefit from prophylactic life-long antibiotics and vaccination. Barium contrast screening has been used for early detection of intestinal malrotation and to guide treatment. Also, long-term, infrequent follow-up of infants and adults with isoalted levocardia to monitor for heart rhythm problems is recommended.
Source: GARD
Topic: Chondrodysplasia acromesomelic with genital anomalies
Question: What are the symptoms of Chondrodysplasia acromesomelic with genital anomalies ?
Answer: What are the signs and symptoms of Chondrodysplasia acromesomelic with genital anomalies? The Human Phenotype Ontology provides the following list of signs and symptoms for Chondrodysplasia acromesomelic with genital anomalies. 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 of the proximal phalanges of the hand - Aplasia/Hypoplasia involving the metacarpal bones - Autosomal recessive inheritance - Broad foot - Carpal synostosis - Disproportionate short-limb short stature - Fibular aplasia - Hypergonadotropic hypogonadism - Hypoplasia of the ulna - Hypoplasia of the uterus - Primary amenorrhea - Radial deviation of finger - Short femoral neck - Short finger - Short phalanx of finger - Short toe - Talipes equinovarus - Tarsal synostosis - Widened proximal tibial metaphyses - 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: Pitt-Hopkins-like syndrome
Question: What are the symptoms of Pitt-Hopkins-like syndrome ?
Answer: What are the signs and symptoms of Pitt-Hopkins-like syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Pitt-Hopkins-like 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) Epileptic encephalopathy 75% Broad-based gait 5% Autosomal recessive inheritance - Constipation - Drooling - Feeding difficulties - Gastroesophageal reflux - Hyperventilation - Intellectual disability, severe - Muscular hypotonia - Protruding tongue - Pulmonic stenosis - Scoliosis - Strabismus - Wide mouth - 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: Coats disease
Question: What is (are) Coats disease ?
Answer: Coats disease is an eye disorder characterized by abnormal development of the blood vessels in the retina (retinal telangiectasia). Most affected people begin showing symptoms of the condition in childhood. Early signs and symptoms vary but may include vision loss, crossed eyes (strabismus), and a white mass in the pupil behind the lens of the eye (leukocoria). Overtime, coats disease may also lead to retinal detachment, glaucoma, and clouding of the lens of the eye (cataracts) as the disease progresses. In most cases, only one eye is affected (unilateral). The exact underlying cause is not known but some cases may be due to somatic mutations in the NDP gene. Treatment depends on the symptoms present and may include cryotherapy, laser therapy, and/or surgery.
Source: GARD
Topic: Coats disease
Question: What are the symptoms of Coats disease ?
Answer: What are the signs and symptoms of Coats disease? The signs and symptoms of Coats disease typically begin at an early age (between ages 6 and 8). Some people may only have a few or no symptoms, while others are very severely affected. The condition is almost always progressive (symptoms get worse over time), although alternating periods of sudden worsening with periods of no apparent progression are common. Early signs and symptoms may include loss of vision, crossed eyes (strabismus), and/or the development of a white mass in the pupil behind the lens of the eye (leukocoria). As the disease progresses, affected people may develop glaucoma; cataracts; reddish discoloration in the iris (rubeosis iridis or neovascular glaucoma); shrinking of the affected eyeball (phthisis bulbi); and/or swelling and irritation of the middle layer of the eye (uveitis). The majority of affected people eventually experience profound vision loss and retinal detachment. The Human Phenotype Ontology provides the following list of signs and symptoms for Coats 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) Abnormality of the retinal vasculature 90% Strabismus 90% Abnormality of the macula 50% Glaucoma 50% Retinal detachment 50% Abnormality of the anterior chamber 7.5% Aplasia/Hypoplasia of the iris 7.5% Cataract 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: Coats disease
Question: What causes Coats disease ?
Answer: What causes Coats disease? The exact cause of Coats disease is not currently known. However, it is a reported feature of several different genetic syndromes, suggesting there may be a genetic component.[4716] Researchers believe that some cases of Coats disease may be due to somatic mutations in the NDP gene, which lead to deficient levels of a protein called norrin in the developing retina. A somatic mutation in this case is one that is acquired after conception (i.e. it was not inherited from a parent and cannot be passed on to an affected person's children).
Source: GARD
Topic: Coats disease
Question: Is Coats disease inherited ?
Answer: How is Coats disease inherited? In most cases, Coats disease is not inherited. Eighty to 90% of affected people have no evidence of a genetic predisposition to the condition and no affected family members. Rarely, Coats disease can be inherited as a feature of several different genetic syndromes. For example, Coats disease has been reported in people with Senior-Loken syndrome and is a key symptom of a condition called Coats plus syndrome, which is characterized by Coats disease plus abnormalities of the brain, bones, gastrointestinal system, and other parts of the body. Both of these conditions are inherited in an autosomal recessive manner.
Source: GARD
Topic: Coats disease
Question: How to diagnose Coats disease ?
Answer: Is genetic testing available for Coats disease? Genetic testing is not available for most cases of Coats disease. Eighty to 90% of affected people have no evidence of a genetic predisposition to the condition and no affected family members. Rarely, Coats disease can be inherited as a feature of several different genetic syndromes. For example, Coats disease has been reported in Senior-Loken syndrome, which is caused by changes (mutations) in one of several different genes, and Coats plus syndrome, which is caused by mutations in CTC1. Genetic testing is often an option for people affected by one of these conditions. How is Coats disease diagnosed? A diagnosis of Coats disease is often suspected based on the presense of characteristic signs and symptoms on thorough eye examination. Retinal fluorescein angiography, an imaging technique that uses a special dye and camera to look at blood flow in the retina, may be necessary to confirm the diagnosis. Ultrasonography, computed tomography (CT scan) and/or magnetic resonance imaging (MRI scan) are often performed to distinguish Coats disease from other conditions that affect the retina.
Source: GARD
Topic: Coats disease
Question: What are the treatments for Coats disease ?
Answer: How might Coats disease be treated? The treatment of Coats disease depends on the signs and symptoms present in each person. Treatment is usually directed towards destroying affected blood vessels in the retina and salvaging as much vision as possible. A procedure that uses extreme cold to destroy abnormal blood vessels (cryotherapy), and/or a procedure that uses laser energy to heat and destroy abnormal tissue (photocoagulation) are often used singly or in combination. These procedures are typically used during the early stages of the disease along with steroids and other medications to control inflammation and leaking from blood vessels. More advanced cases may require surgical treatment. For example, surgery to reattach the retina may be necessary in cases of retinal detachment. Draining or surgically removing the fluids that fill the eyeball between the lens and the retina (vitrectomy) may also be used to treat Coats disease when retinal detachment is present.
Source: GARD
Topic: Hereditary angiopathy with nephropathy, aneurysms, and muscle cramps syndrome
Question: What is (are) Hereditary angiopathy with nephropathy, aneurysms, and muscle cramps syndrome ?
Answer: Hereditary angiopathy with nephropathy, aneurysms, and muscle cramps (HANAC) syndrome is a genetic condition that causes blood vessels to become fragile. Signs and symptoms include muscle cramps, Raynaud phenomenon, kidney cysts, blood in the urine (typically not visible to the eye), leukoencephalopathy (a change in brain tissue that can be seen on MRI), arteries in the back of the eye that twist and turn abnormally, headaches, and supraventricular arrhythmia. These signs and symptoms do not often cause serious complications, however temporary vision loss due to bleeding in the back of the eye, minor ischemic stroke, and bleeding complications with blood thinner use has been described. While muscle cramps may begin in childhood, many of the other symptoms do not appear until later in life. HANAC syndrome is caused by mutations in the COL4A1 gene. It is passed through families in a autosomal dominant fashion.
Source: GARD
Topic: Hereditary angiopathy with nephropathy, aneurysms, and muscle cramps syndrome
Question: What are the symptoms of Hereditary angiopathy with nephropathy, aneurysms, and muscle cramps syndrome ?
Answer: What are the signs and symptoms of Hereditary angiopathy with nephropathy, aneurysms, and muscle cramps syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Hereditary angiopathy with nephropathy, aneurysms, and muscle cramps 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) Stroke 5% Autosomal dominant inheritance - Cerebral aneurysm - Hematuria - Leukoencephalopathy - Muscle cramps - Nephropathy - Renal cyst - Renal insufficiency - Retinal arteriolar tortuosity - Retinal hemorrhage - Supraventricular arrhythmia - 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: Hereditary angiopathy with nephropathy, aneurysms, and muscle cramps syndrome
Question: What are the treatments for Hereditary angiopathy with nephropathy, aneurysms, and muscle cramps syndrome ?
Answer: How might HANAC syndrome be treated? In order to know how HANAC syndrome is affecting you, your doctor may recommend that you undergo a series of imaging tests of the brain and kidney, an eye exam, and blood tests (e.g., serum CK concentration). While there is not a targeted treatment for HANAC syndrome, treatments are available to manage its signs and symptoms, such as drugs to reduce high blood pressure, manage headaches, and treat arrhythmia. People with HANAC syndrome may be regularly monitored (e.g., once a year) for signs and symptoms. In order to reduce the risk for health complications, your doctor may advise you to avoid smoking, activities that can cause head trauma, and blood thinners (anticoagulants).
Source: GARD