fenil210/Med-Lamma huggingface dataset:
What is (are) Hyperparathyroidism-jaw tumor syndrome ?
Hyperparathyroidism-jaw tumor syndrome is an inherited condition characterized by overactivity of the parathyroid glands (hyperparathyroidism), which regulate the body's use of calcium. In people with this condition, hyperparathyroidism is caused by benign tumors (adenomas) that form in the parathyroid glands. About 15 percent of people with this condition develop a cancerous tumor called parathyroid carcinoma. About 25 to 50 percent of affected individuals can also develop a benign tumor called a fibroma in the jaw. Other benign or cancerous tumors can also develop, including tumors of the uterus in women; benign kidney cysts; and rarely, Wilms tumor. This condition is caused by mutations in the CDC73 gene and is inherited in an autosomal dominant fashion. + GARD + Hyperparathyroidism-jaw tumor syndrome
What are the symptoms of Hyperparathyroidism-jaw tumor syndrome ?
What are the signs and symptoms of Hyperparathyroidism-jaw tumor syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Hyperparathyroidism-jaw tumor 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 head - Autosomal dominant inheritance - Hamartoma - Hurthle cell thyroid adenoma - Hypercalcemia - Hyperparathyroidism - Nephroblastoma (Wilms tumor) - Nephrolithiasis - Pancreatic adenocarcinoma - Papillary renal cell carcinoma - Parathyroid adenoma - Parathyroid carcinoma - Polycystic kidney dysplasia - Recurrent pancreatitis - Renal cortical adenoma - 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 + Hyperparathyroidism-jaw tumor syndrome
What is (are) Loin pain hematuria syndrome ?
Loin pain hematuria syndrome (LPHS) is a condition that is characterized by persistent or recurrent loin pain and hematuria (blood in the urine). Other signs and symptoms include nausea and vomiting; a low-grade fever (up to 101F); and/or dysuria during episodes of pain. The exact underlying cause of LPHS is currently unknown; however, scientists suspect that it may be due to abnormalities of the glomerular basement membranes (the tissues in the kidney that filter blood); bleeding disorders; or crystal and/or stone formation in the kidneys. Treatment is symptomatic and usually consists of pain management. + GARD + Loin pain hematuria syndrome
What are the symptoms of Loin pain hematuria syndrome ?
What are the signs and symptoms of loin pain hematuria syndrome? As the name of the condition suggests, loin pain hematuria syndrome (LPHS) is characterized primarily by recurrent or persistent loin pain and/or hematuria (blood in the urine). The loin pain is sometimes described as burning or throbbing and may worsen with exercise or when lying in a supine (face upward) position. Although some may only experience pain on one side initially, most people with LPHS will eventually develop bilateral (on both sides) loin pain. During episodes of pain, affected people may also experience nausea and vomiting; a low-grade fever (up to 101F); and/or dysuria. + GARD + Loin pain hematuria syndrome
What causes Loin pain hematuria syndrome ?
What causes loin pain hematuria syndrome? The exact underlying cause of loin pain hematuria syndrome (LPHS) is currently unknown. However, scientists have proposed several theories. For example, some cases of LPHS may be due to abnormal glomerular basement membranes, which are the tissues in the kidney that filter blood. If these tissues are abnormal, red blood cells may be allowed to enter the urinary space, leading to both loin pain and hematuria (blood in the urine). Other factors that may lead to the signs and symptoms of LPHS include: Blood disorders, called coagulopathies, which impair the bloods ability to clot Spasms in the kidney's blood vessels which may restrict blood flow to certain tissues and lead to tissue death Up to 50% of people affected by LPHS also experience kidney stones. Some scientists, therefore, suspect that the formation of crystals and/or stones in the kidney may also contribute to the condition as they may block or injure the renal tubules (the long narrow tubes in the kidney that concentrate and transport urine). + GARD + Loin pain hematuria syndrome
How to diagnose Loin pain hematuria syndrome ?
How is loin pain hematuria syndrome diagnosed? A diagnosis of loin pain hematuria syndrome is suspected based on the presence of characteristic signs and symptoms, after other conditions that cause similar features have been excluded. Severe hematuria (blood in urine) may be obvious; however, a urinalysis can be performed to detect microscopic levels of hematuria. In some cases, a kidney biopsy may also be recommended to evaluate the structure and function of the kidney. + GARD + Loin pain hematuria syndrome
What are the treatments for Loin pain hematuria syndrome ?
How might loin pain hematuria syndrome be treated? Treatment of loin pain hematuria syndrome (LPHS) typically consists of pain management. Narcotics or oral opioids may be prescribed to help control pain. Patients with severe pain may need high-dose opioids daily and may occasionally require hospitalization for intravenous pain relievers and control of nausea. Limited evidence suggests that drugs that inhibit angiotensin may reduce the frequency and severity of episodes of loin pain and severe hematuria. People with debilitating pain who do not respond to other therapies may be offered surgery (i.e. a nerve block, nephrectomy, kidney auto-transplantation); however, surgical treatment of LPHS is controversial as studies suggest that it has limited value for treating recurrent pain. + GARD + Loin pain hematuria syndrome
What are the symptoms of Cataract congenital Volkmann type ?
What are the signs and symptoms of Cataract congenital Volkmann type? The Human Phenotype Ontology provides the following list of signs and symptoms for Cataract congenital Volkmann 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) Nuclear cataract 41/41 Autosomal dominant inheritance - Congenital cataract - Progressive visual loss - 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 + Cataract congenital Volkmann type
What are the symptoms of Schimke X-linked mental retardation syndrome ?
What are the signs and symptoms of Schimke X-linked mental retardation syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Schimke X-linked mental retardation 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) Choreoathetosis - External ophthalmoplegia - Growth delay - Hearing impairment - Intellectual disability - Postnatal microcephaly - Spasticity - X-linked 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. + GARD + Schimke X-linked mental retardation syndrome
What is (are) Primary Familial Brain Calcification ?
Primary familial brain calcification (PFBC) is a neurodegenerative disorder characterized by calcium deposits in the basal ganglia, a part of the brain that helps start and control movement. The first symptoms often include clumsiness, fatigue, unsteady walking (gait), slow or slurred speech, difficulty swallowing (dysphagia) and dementia. Migraines and seizures frequently occur. Symptoms typically start in an individual's 30's to 40's but may begin at any age.The neuropsychiatric symptoms and movement disorders worsen over time. Mutations in the SLC20A2, PDGFRB, and PDGFB genes have been found to cause PFBC. This condition is inherited in an autosomal dominant manner. + GARD + Primary Familial Brain Calcification
What are the symptoms of Primary Familial Brain Calcification ?
What are the signs and symptoms of Primary Familial Brain Calcification? The Human Phenotype Ontology provides the following list of signs and symptoms for Primary Familial Brain Calcification. 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 neuronal migration 90% Cerebral calcification 90% Hepatomegaly 90% Intrauterine growth retardation 90% Microcephaly 90% Seizures 90% Subcutaneous hemorrhage 90% Thrombocytopenia 90% Ventriculomegaly 90% Opacification of the corneal stroma 50% Abnormal pyramidal signs 5% Adult onset - Athetosis - Autosomal dominant inheritance - Basal ganglia calcification - Bradykinesia - Calcification of the small brain vessels - Chorea - Dense calcifications in the cerebellar dentate nucleus - Depression - Dysarthria - Dysdiadochokinesis - Dystonia - Gait disturbance - Hyperreflexia - Limb dysmetria - Mask-like facies - Memory impairment - Mental deterioration - Parkinsonism - Postural instability - Progressive - Psychosis - Rigidity - Tremor - Urinary incontinence - 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 + Primary Familial Brain Calcification
What causes Primary Familial Brain Calcification ?
What causes primary familial brain calcification (PFBC)? PFBC is a genetic condition. Mutations in the SLC20A2 gene are thought to cause about half of the cases of PFBC. Mutations in the PDGFRB and PDGFB genes have also been shown to cause PFBC. In some cases, the genes responsible have not yet been found. + GARD + Primary Familial Brain Calcification
How to diagnose Primary Familial Brain Calcification ?
How is primary familial brain calcification (PFBC) diagnosed? The diagnosis of PFBC relies upon:   1) visualization of bilateral (on both sides) calcification of the basal ganglia on neuroimaging,  2) presence of progressive neurological dysfunction,  3) absence of a metabolic, infectious, toxic, or traumatic cause, and 4) a family history consistent with autosomal dominant inheritance (a person must inherit one copy of the altered gene from one parent to have the condition). Molecular genetic testing can help confirm the diagnosis. Is there genetic testing for primary familial brain calcification (PFBC) even though not all of the causitive genes are known? Genetic testing may help to confirm the diagnosis. For individuals in who a diagnosis of PFBC is being considered, other causes of brain calcification should be eliminated prior to pursuing genetic testing, particularly in simplex cases. Testing that might be done includes biochemical analysis of blood and urine, as well s analysis of cerebrospinal fluid. If no other primary cause for brain calcification is detected or if the family history is suggestive of autosomal dominant inheritance, molecular genetic testing should be considered.  Sequencing of SLC20A2 should be pursued first. If no mutation is identified, deletion/duplication analysis of SLC20A2 may be considered. If no identifiable mutation or deletion in SLC20A2 is found, sequence analysis of PDGFRB and PDGFB may be considered. + GARD + Primary Familial Brain Calcification
What are the treatments for Primary Familial Brain Calcification ?
How might primary familial brain calcification (PFBC) be treated? There is no standard course of treatment for PFBC. Treatment typically addresses symptoms on an individual basis. Medications may be used to improve anxiety, depression, obsessive-compulsive behaviors, and dystonia. Antiepileptic drugs (AEDs) can be prescribed for seizures. Oxybutynin may be prescribed for urinary incontinence (loss of bladder control). Surveillance typically includes yearly neurologic and neuropsychiatric assessments. + GARD + Primary Familial Brain Calcification
What is (are) Fibromuscular dysplasia ?
Fibromuscular dysplasia (FMD) is the abnormal development or growth of cells in the walls of arteries that can cause the vessels to narrow or bulge. The carotid arteries, which pass through the neck and supply blood to the brain, are commonly affected. Arteries within the brain and kidneys can also be affected. Narrowing and enlarging of arteries can block or reduce blood flow to the brain, causing a stroke. Some patients experience no symptoms of the disease while others may have high blood pressure, dizziness or vertigo, chronic headache, intracranial aneurysm, ringing in the ears, weakness or numbness in the face, neck pain, or changes in vision. FMD is most often seen in people age 25 to 50 years and affects women more often than men. More than one family member may be affected by the disease. The cause of FMD is unknown. Treatment is based on the arteries affected and the progression and severity of the disease. + GARD + Fibromuscular dysplasia
What are the symptoms of Fibromuscular dysplasia ?
What are the signs and symptoms of Fibromuscular dysplasia? The Human Phenotype Ontology provides the following list of signs and symptoms for Fibromuscular dysplasia. 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) Aortic dissection - Arterial fibromuscular dysplasia - Autosomal dominant inheritance - Intermittent claudication - Myocardial infarction - Renovascular hypertension - Stroke - 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 + Fibromuscular dysplasia
What causes Fibromuscular dysplasia ?
What causes fibromuscular dysplasia? The cause of fibromuscular dysplasia is unknown. It is likely that there are many factors that contribute to the development of this condition. These factors may include blood vessel abnormalities, tobacco use, hormone levels, and genetic predispositions. Approximately 28 percent of affected individuals have more than one artery with fibromuscular dysplasia. It is not known why some people develop this condition in more than one artery. + GARD + Fibromuscular dysplasia
What is (are) Juvenile dermatomyositis ?
Juvenile dermatomyositis has some similarities to adult dermatomyositis and polymyositis. It typically affects children ages 2 to 15 years, with symptoms that include weakness of the muscles close to the trunk of the body, inflammation, edema, muscle pain, fatigue, skin rashes, abdominal pain, fever, and contractures. Children with juvenile dermatomyositis may have difficulty swallowing and breathing, and the heart may also be affected.  About 20 to 30 percent of children with juvenile dermatomyositis develop calcium deposits in the soft tissue. Affected children may not show higher than normal levels of the muscle enzyme creatine kinase in their blood but have higher than normal levels of other muscle enzymes. + GARD + Juvenile dermatomyositis
What are the symptoms of Juvenile dermatomyositis ?
What are the signs and symptoms of Juvenile dermatomyositis? The Human Phenotype Ontology provides the following list of signs and symptoms for Juvenile dermatomyositis. 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) Autoimmunity 90% Chondrocalcinosis 90% Dry skin 90% Mucosal telangiectasiae 90% Muscle weakness 90% Myalgia 90% Periorbital edema 90% Skin rash 90% Telangiectasia of the skin 90% Abnormality of temperature regulation 50% Alopecia 50% Arthralgia 50% Arthritis 50% Constipation 50% Cutaneous photosensitivity 50% Flexion contracture 50% Muscular hypotonia 50% Poikiloderma 50% Pruritus 50% Restrictive lung disease 50% Skin ulcer 50% Vasculitis 50% Abdominal pain 7.5% Abnormality of the pericardium 7.5% Abnormality of the voice 7.5% Arrhythmia 7.5% Coronary artery disease 7.5% EMG abnormality 7.5% Feeding difficulties in infancy 7.5% Gastrointestinal hemorrhage 7.5% Hypertrophic cardiomyopathy 7.5% Limitation of joint mobility 7.5% Neurological speech impairment 7.5% Pulmonary fibrosis 7.5% Respiratory insufficiency 7.5% Weight loss 7.5% Autosomal dominant inheritance - Myositis - Proximal muscle weakness - 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 + Juvenile dermatomyositis
What is (are) Trigeminal Trophic Syndrome ?
Trigeminal trophic syndrome is a rare disease that affects the skin on the side of the nose, supplied by the trigeminal nerve. People with trigeminal trophic syndrome have a loss of sensation in the nose or abnormal sensations like tingling, numbness, or burning and they rub or scratch the skin causing cuts or ulcers in the area. When the cuts heal, they can cause scars that pull up the lip. Similar cuts may also occur in the corners of the eyes, scalp or inside the mouth. The tip of the nose is spared because its sensation comes from a different nerve. Trigeminal trophic syndrome may occur in people who were treated for trigeminal neuralgia or after leprosy (Hansen's disease) or shingles infection. Treatment options include medications, radiotherapy, and covering the wounds until they have fully healed. Another treatment option is a technique called transcutaneous electrical stimulation that uses a small electronic device to direct mild electric pulses to nerve endings that lie beneath the skin. + GARD + Trigeminal Trophic Syndrome
What is (are) Pigmented purpuric eruption ?
Pigmented purpuric eruption is a condition that causes reddish-brown skin lesions, most commonly on the lower legs. In some cases, the skin lesions cause severe itching. The skin lesions may spread over time, or clear up on their own. The cause of pigmented purpuric eruption is unknown. + GARD + Pigmented purpuric eruption