fenil210/Med-Lamma huggingface dataset:
What are the treatments for Acquired pure red cell aplasia ?
How might acquired pure red cell aplasia be treated? The main goals of treatment for pure red cell aplasia (PRCA) are to restore the production of red blood cells, maintain adequate hemoglobin levels, and treat underlying disorders that may be causing the condition. The initial treatment plan typically includes blood transfusions for individuals who are severely anemic and have cardiorespiratory failure. PRCA due to medication or infections is usually reversible within a few months. Therefore, medications that may be causing the condition should be discontinued, and infections that may cause the condition should be treated. Underlying conditions that may cause PRCA such as a thymoma, hematological cancers, solid tumors, and systemic lupus erythematosus (SLE) should be treated as necessary as well. When the condition is idiopathic (of unknown cause) or due to an autoimmune disorder, PRCA is typically initially treated with corticosteroids. It has been reported that individuals who seem to be resistant to treatment may respond to a single course of intravenous immunoglobulin (IVIG,) while others have responded to a single dose. In the United States, financial issues may make it difficult to obtain this treatment because IVIG is expensive and is not approved by the Food and Drug Administration to treat PRCA. Additional and more detailed information about the management of acquired PRCA may be found on eMedicine's web site and can be viewed by clicking here. + GARD + Acquired pure red cell aplasia
What is (are) Orofaciodigital syndrome 1 ?
Orofaciodigital syndrome 1 (OFD1), also called orofaciodigital syndrome type 1, is a condition that affects the development of the oral cavity (the mouth and teeth), facial features, and digits (fingers and toes). This condition also causes polycystic kidney disease. Orofaciodigital syndrome 1 is caused by a change (mutation) in a gene called OFD1 which appears to play an important role in the early development of many parts of the body including the brain, face, limbs, and kidneys. The syndrome is inherited in an X-linked dominant pattern. The diagnosis of OFD1 is sometimes made at birth, but it may be suspected only after polycystic kidney disease is found in later childhood or adulthood. Treatment for OFD1 typically focuses on the symptoms an individual has and may include surgery for cleft lip or palate , other oral abnormalities, or syndactyly (webbing of the fingers or toes). Researchers have identified at least 13 potential forms of orofaciodigital syndromes, which are classified by their patterns of signs and symptoms. OFD1 is the most common form of orofaciodigital syndrome and differs from the other types mainly by its association with polycystic kidney disease. + GARD + Orofaciodigital syndrome 1
How to diagnose Orofaciodigital syndrome 1 ?
Is genetic testing available for orofaciodigital syndrome 1 (OFD1)? Genetic testing for orofaciodigital syndrome 1 is clinically available. OFD1  is the only gene currently known to be associated with this condition. Testing is often used to confirm or establish the diagnosis in an individual when OFD1 is suspected.  A change (mutation) in the OFD1 gene is detected in up to 85% of individuals who have OFD1.  You can find laboratories offering clinical genetic testing for OFD1 on a website called GeneTests. To see a listing of clinical testing laboratories click here. GeneTests does not currently list laboratories doing research testing for OFD1. + GARD + Orofaciodigital syndrome 1
What are the symptoms of Arachnodactyly - intellectual disability - dysmorphism ?
What are the signs and symptoms of Arachnodactyly - intellectual disability - dysmorphism? The Human Phenotype Ontology provides the following list of signs and symptoms for Arachnodactyly - intellectual disability - dysmorphism. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Arachnodactyly 90% Cognitive impairment 90% Decreased body weight 90% Long face 90% Long toe 90% Narrow face 90% Thin vermilion border 90% Trismus 90% Abnormality of calvarial morphology 50% Abnormality of immune system physiology 50% Abnormality of the genital system 50% Clinodactyly of the 5th finger 50% Hypertelorism 50% Hypertonia 50% Joint hypermobility 50% Long philtrum 50% Microcephaly 50% Narrow mouth 50% Pointed chin 50% Strabismus 50% Triphalangeal thumb 50% 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 + Arachnodactyly - intellectual disability - dysmorphism
What are the symptoms of Malonyl-CoA decarboxylase deficiency ?
What are the signs and symptoms of Malonyl-CoA decarboxylase deficiency? The Human Phenotype Ontology provides the following list of signs and symptoms for Malonyl-CoA decarboxylase deficiency. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Cognitive impairment 90% Abnormality of the cardiovascular system 50% Constipation 50% Hypoglycemia 50% Muscular hypotonia 50% Seizures 50% Pachygyria 5% Abdominal pain - Autosomal recessive inheritance - Chronic constipation - Diarrhea - Hypertrophic cardiomyopathy - Ketosis - Lactic acidosis - Metabolic acidosis - Short stature - 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. + GARD + Malonyl-CoA decarboxylase deficiency
What are the symptoms of Pontocerebellar hypoplasia type 5 ?
What are the signs and symptoms of Pontocerebellar hypoplasia type 5? The Human Phenotype Ontology provides the following list of signs and symptoms for Pontocerebellar hypoplasia type 5. 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 - Microcephaly - Olivopontocerebellar hypoplasia - Seizures - 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 + Pontocerebellar hypoplasia type 5
What are the symptoms of Familial multiple trichodiscomas ?
What are the signs and symptoms of Familial multiple trichodiscomas? The Human Phenotype Ontology provides the following list of signs and symptoms for Familial multiple trichodiscomas. 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 hair - Autosomal dominant 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 + Familial multiple trichodiscomas
What are the symptoms of Small cell carcinoma of the bladder ?
What are the signs and symptoms of Small cell carcinoma of the bladder? The Human Phenotype Ontology provides the following list of signs and symptoms for Small cell carcinoma of the bladder. 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) Hematuria 90% Urinary tract neoplasm 90% Abdominal pain 7.5% Hypercalcemia 7.5% Recurrent urinary tract infections 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. + GARD + Small cell carcinoma of the bladder
What is (are) Ledderhose disease ?
Ledderhose disease is a type of plantar fibromatosis characterized by thickening of the foot's deep connective tissue. While many individuals with Ledderhose disease do not experience symptoms, over time the condition may progress, causing considerable pain when walking. Repeated trauma, long-term alcohol consumption, chronic liver disease, diabetes, and epilepsy have been reported in association with the development of this condition. Heredity is also a clear factor in many patients. Often, patients with Ledderhose disease also have other fibrosing conditions such as Dupuytren contracture, knuckle pads, or Peyronie disease.  The exact prevalence of Ledderhose disease is unknown, with some studies stating it is rare, and others stating it is a common condition. + GARD + Ledderhose disease
What are the symptoms of Ledderhose disease ?
What are the signs and symptoms of Ledderhose disease? The Human Phenotype Ontology provides the following list of signs and symptoms for Ledderhose 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) Arthralgia 90% Lack of skin elasticity 90% Paresthesia 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 + Ledderhose disease
What are the treatments for Ledderhose disease ?
How might Ledderhose disease be treated? There is little evidence regarding the effectiveness of specific treatment approaches for Ledderhose disease. Initial treatment approach may invovle regular (monthly or less often) glucocorticoid injection and soft shoe inserts with cutouts for the nodules. Surgery, such as selective fasciectomy or dermofasciectomy, has been used as treatment of people who do not respond to initial therapy. Recurrence following surgery is common. Collagenase injection is an additional therapy which has been used with variable sucess. Our search identified one case report describing the use of "upper lateral arm flaps" on the feet of two brother's who had multiple recurrences following other procedures. The reference for this article is provided below. Kan HJ, Hovius SE. Long-term follow-up of flaps for extensive Dupuytren's and Ledderhose disease in one family. J Plast Reconstr Aesthet Surg. 2012 December;65(12):1741-5. The International Dupyytren Society provides futher information on treatment options for Ledderhose disease at the following link:  http://www.dupuytren-online.info/ledderhose_therapies.html We strongly recommend that you review this information with your healthcare providers. Only a healthcare provider can help you make decisions regarding which treatment approach may be best for you. + GARD + Ledderhose disease
What is (are) Langerhans cell histiocytosis ?
Langerhans cell histiocytosis (LCH) is a disorder that primarily affects children, but is also found in adults of all ages. People with LCH produce too many Langerhans cells or histiocytes, a form of white blood cell found in healthy people that is supposed to protect the body from infection. In people with LCH, these cells multiply excessively and build up in certain areas of the body, causing tumors called granulomas to form. The symptoms vary among affected individuals, and the cause of LCH is unknown. In most cases, this condition is not life-threatening. Some people do experience life-long problems associated with LCH. + GARD + Langerhans cell histiocytosis
What are the symptoms of Langerhans cell histiocytosis ?
What are the signs and symptoms of Langerhans cell histiocytosis? Symptoms of Langerhans cell histiocytosis (LCH) can vary greatly from person to person depending on how much of the body is involved and what part(s) are affected. The disease can affect virtually every organ, including skin, bones, lymph nodes, bone marrow, liver, spleen, lungs, gastrointestinal tract, thymus, central nervous system, and hormone glands. The symptoms may range from localized bone lesions or skin disease to multiple organ involvement and severe dysfunction. Below are the organs that may be affected as well as the symptoms that might be observed: Skin - Red, scaly papules in areas where opposing skin surfaces touch or rub (e.g. skin folds) are commonly seen in LCH. Infants with the skin presentation on the scalp are often misdiagnosed with cradle cap. The skin symptoms usually improve without treatment. Bone - Lesions that cause bone destruction are common, with the skull, lower limbs, ribs, pelvis, and vertebrae usually being affected. Symptoms may include pain, swelling, limited motion, and inability to bear weight. Lymph node - Lymph node involvement may be limited or associated with a skin or bone lesion or disseminated disease. Although any of the lymph nodes may be affected, the cervical lymph nodes are where the disease commonly occurs. Individuals usually only present with pain of the lymph node affected. If only one lymph node is affected, prognosis is normally good and treatment is unnecessary. Liver - Liver involvement at the time of diagnosis is generally associated with more severe disease. Symptoms may include ascites, jaundice, low levels of protein, and prolonged clotting time. Central nervous system (CNS) and hormone - CNS involvement is rare and may be devastating. The most common result of CNS involvement is the altering of hormonal function, with some individuals developing diabetes insipidus. More detailed information about the symptoms of LCH can be accessed through the Histiocytosis Association's website. + GARD + Langerhans cell histiocytosis
What causes Langerhans cell histiocytosis ?
What causes Langerhans cell histiocytosis? The cause of Langerhans cell histiocytosis is unknown. It may be triggered by an unusual reaction of the immune system to something commonly found in the environment. It is not considered to be an infection or cancer. It is not known to be hereditary or communicable. + GARD + Langerhans cell histiocytosis
Is Langerhans cell histiocytosis inherited ?
Is Langerhans cell histiocytosis inherited? Although Langerhans cell histiocytosis is generally considered a sporadic, non-hereditary condition, it has reportedly affected more than one individual in a family in a very limited number of cases (particularly identical twins). + GARD + Langerhans cell histiocytosis
How to diagnose Langerhans cell histiocytosis ?
How is Langerhans cell histiocytosis diagnosed? Testing for Langerhans cell histiocytosis (LCH) may include bronchoscopy with biopsy, x-ray, skin biopsy, bone marrow biopsy, complete blood count, and pulmonary function tests. Because LCH is sometimes associated with cancer, CT scans and a biopsy may be done to rule out possible cancer. Additional information about the diagnosis of LCH can be viewed on the Histiocytosis Association's website. + GARD + Langerhans cell histiocytosis
What are the treatments for Langerhans cell histiocytosis ?
How might Langerhans cell histiocytosis be treated? Treatment for Langerhans cell histiocytosis (LCH) depends upon the individual patient; it may differ depending on the type and severity of the condition as well as what part(s) of the body are affected. In some cases, the disease will regress without any treatment at all. In other cases, limited surgery and small doses of radiation therapy or chemotherapy will be needed, depending on the extent of the disease. Treatment is planned after complete evaluation of the patient, with the goal of using as little treatment as possible to keep the disease under control. Detailed information about the treatment of LCH can be viewed on Medscape Reference's Web site. + GARD + Langerhans cell histiocytosis
What are the symptoms of Mental retardation X-linked syndromic 7 ?
What are the signs and symptoms of Mental retardation X-linked syndromic 7? The Human Phenotype Ontology provides the following list of signs and symptoms for Mental retardation X-linked syndromic 7. 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) Cognitive impairment 90% Obesity 90% Tapered finger 90% Abnormal hair quantity 50% Abnormality of dental morphology 50% Hypoplasia of penis 50% Muscle weakness 50% Neurological speech impairment 50% Short stature 50% Cryptorchidism 7.5% Visual impairment 7.5% 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 + Mental retardation X-linked syndromic 7
What are the symptoms of Radial hypoplasia, triphalangeal thumbs and hypospadias ?
What are the signs and symptoms of Radial hypoplasia, triphalangeal thumbs and hypospadias? The Human Phenotype Ontology provides the following list of signs and symptoms for Radial hypoplasia, triphalangeal thumbs and hypospadias. 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 dermatoglyphics 90% Aplasia/Hypoplasia of the radius 90% Mandibular prognathia 90% Micromelia 90% Triphalangeal thumb 90% Autosomal dominant inheritance - Diastema - Hypoplasia of the radius - Hypospadias - Nonopposable triphalangeal thumb - 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 + Radial hypoplasia, triphalangeal thumbs and hypospadias