sarnsrun/medquad huggingface dataset:
Topic: Reticulohistiocytoma
Question: What is (are) Reticulohistiocytoma ?
Answer: Reticulohistiocytoma (RH) is a rare benign lesion of the soft tissue. It belongs to a group of disorders called non-Langerhans cell histiocytosis and is a type of reticulohistiocytosis, all of which are types of histiocytosis. Histiocytosis is a condition in which there is rapid production (proliferation) of histiocytes (immune cells) in the skin or soft tissues. The stimulus that causes the immune system to react in RH is currently not well understood. RH present as a yellow to reddish-brown smooth surfaced, firm nodule or lesion on the trunk and/or extremities of the body. Historically, RH has been found in young adults, with a slightly higher incidence in males. RH typically resolve spontaneously over a period of months to years, are not associated with systemic disease, and do not otherwise affect health. Treatment involves surgical removal of the lesion.
Source: GARD
Topic: Reticulohistiocytoma
Question: What causes Reticulohistiocytoma ?
Answer: What causes reticulohistiocytoma? While it is known that reticulohistiocytoma (RH) develop due to a rapid production of immune cells (histiocytes) in the skin or soft tissues, the cause of this process is not currently known.
Source: GARD
Topic: Reticulohistiocytoma
Question: How to diagnose Reticulohistiocytoma ?
Answer: How is reticulohistiocytoma diagnosed? The diagnosis of reticulohistiocytoma (RH) is made based on clinical presentation, histology, and immunohistochemistry profile. RH occur in isolation and are typically described as small, yellow to reddish-born nodules. The lesions usually are slightly elevated from the surrounding skin. Detailed information on histology of reticulohistiocytoma is available through DermNet NZ, an online resource about skin diseases developed by the New Zealand Dermatological Society Incorporated. There are several differential diagnoses for RH. It is important to distinguish RH from Rosai-Dorfman disease, juvenile xanthogranuloma, a variety of granulomatous conditions, and some malignant neoplasms, including histiocytic sarcoma, melanoma, and epithelioid sarcoma. Reticulohistiocytoma should also be distinguished from multicentric reticulohistiocytosis.
Source: GARD
Topic: Reticulohistiocytoma
Question: What are the treatments for Reticulohistiocytoma ?
Answer: How might reticulohistiocytoma be treated? Reticulohistiocytoma (RH) typically resolve spontaneously over a period of months to years; however, surgical excision usually results in a cure.
Source: GARD
Topic: Mental retardation X-linked syndromic 11
Question: What are the symptoms of Mental retardation X-linked syndromic 11 ?
Answer: What are the signs and symptoms of Mental retardation X-linked syndromic 11? The Human Phenotype Ontology provides the following list of signs and symptoms for Mental retardation X-linked syndromic 11. 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 nasal morphology 90% Blepharophimosis 90% Coarse facial features 90% Cognitive impairment 90% Macroorchidism 90% Macrotia 90% Neurological speech impairment 90% Obesity 90% Palpebral edema 90% Prominent supraorbital ridges 90% Seizures 7.5% Bulbous nose - Intellectual disability, moderate - Periorbital fullness - Specific learning disability - Thick lower lip vermilion - 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: Hereditary multiple osteochondromas
Question: What is (are) Hereditary multiple osteochondromas ?
Answer: Hereditary multiple osteochondromas (HMO) (formerly called hereditary multiple exostoses) is a genetic condition in which people develop multiple benign (noncancerous) bone tumors that are covered by cartilage (called osteochondromas). The number and location of osteochondromas varies greatly among affected individuals. These tumors are not present at birth, but almost all affected people develop multiple osteochondromas by the time they are 12 years old. Once the bones stop growing, the development of new osteochondromas also usually stops. Osteochondromas can cause abnormal growth of the arms, hands, and legs, which can lead to uneven limb lengths (limb length discrepancy) and short stature. These tumors may cause pain, limit joint movement, and exert pressure on nerves, blood vessels, and surrounding tissues. Osteochondromas are typically benign; however, researchers estimate that people with HMO have about a 1% lifetime risk of these tumors becoming a cancerous osteochondrosarcoma. HMO is caused by mutations in the EXT1 and EXT2 genes and is inherited in an autosomal dominant pattern.
Source: GARD
Topic: Hereditary multiple osteochondromas
Question: What are the symptoms of Hereditary multiple osteochondromas ?
Answer: What are the signs and symptoms of Hereditary multiple osteochondromas? The Human Phenotype Ontology provides the following list of signs and symptoms for Hereditary multiple osteochondromas. 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 humerus 90% Abnormality of the tibia 90% Abnormality of the femur 50% Abnormality of the metaphyses 50% Abnormality of the teeth 50% Abnormality of the ulna 50% Anteverted nares 50% Aplasia/Hypoplasia of the radius 50% Aseptic necrosis 50% Bone pain 50% Chondrocalcinosis 50% Cranial nerve paralysis 50% Exostoses 50% Genu valgum 50% Madelung deformity 50% Micromelia 50% Muscle weakness 50% Short stature 50% Abnormal pyramidal signs 7.5% Abnormality of pelvic girdle bone morphology 7.5% Abnormality of the pericardium 7.5% Aneurysm 7.5% Elbow dislocation 7.5% Hemiplegia/hemiparesis 7.5% Osteoarthritis 7.5% Osteolysis 7.5% Recurrent fractures 7.5% Scoliosis 7.5% Synostosis of joints 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: Hereditary multiple osteochondromas
Question: Is Hereditary multiple osteochondromas inherited ?
Answer: How is hereditary multiple osteochondromas inherited? HMO is caused by mutations in the EXT1 and EXT2 genes. It is inherited in an autosomal dominant pattern, which means that one copy of the altered gene in each cell is sufficient to cause this condition. In most cases, an affected individual inherits the mutation from one affected parent. Other cases result from new mutations in the gene and occur in people with no history of the condition in their family. Most affected individuals (96%) that have inherited a gene mutation from their parent show signs and symptoms of this condition. However, the family history may appear negative because of the failure to recognize the disorder in family members and/or reduced penetrance. Reports have suggested that some females may not show clinical features of HMO but still have the gene mutation that causes this condition.
Source: GARD
Topic: Hereditary multiple osteochondromas
Question: How to diagnose Hereditary multiple osteochondromas ?
Answer: Is genetic testing available for hereditary multiple osteochondromas? GeneTests lists the names of laboratories that are performing genetic testing for hereditary multiple osteochondromas. To view the contact information for the clinical laboratories conducting testing for the EXT1 gene, click here.  To view the contact information for the clinical laboratories conducting testing for the EXT2 gene, click here. Please note:  Most of the laboratories listed through GeneTests do not accept direct contact from patients and their families; therefore, if you are interested in learning more, you will need to work with a health care provider or a genetics professional.  Below, we provide a list of online resources that can assist you in locating a genetics professional near you. How might malignant transformation in hereditary multiple exostoses (HME) be diagnosed? Surface irregularities and unorganized chalk deposits with light areas in the middle of the tumor and cartilage cap may be seen on a bone scan, ultrasound or preferably an MRI. However the diagnosis of chondrosarcoma can only be confirmed by a bone biopsy. What are the signs and symptoms of malignant transformation in hereditary multiple exostoses (HME)? A doctor may become suspicious of a malignant transformation if there is an increase in the size of the tumor in adults when bone growth is already complete. In addition, cancer should be suspected if the thickness of the cartilaginous cap of the osteochondroma is over 1-2 centimeters (normally, after bone growth is complete, the cap is only a few millimeters thick). Other signs of a malignant transformation may include bone pain, temporary loss of sensory or motor function due to compression of a nerve (neurapraxia) or pressure related symptoms in nearby organs. Is screening recommended for malignant transformation in hereditary multiple exostoses (HME)? At present, medical researchers agree that more studies need to be performed to determine the best screening protocols for those with HME, including the study of benefit/cost/risk. However a compelling study was published in 2014 by Czajka and DiCaprio which compares the screening of malignant transformation in people with HME to the screening of breast and cervical cancer in women. The authors conclude that screening should be offered to individuals with HME over the age of 16 (or when bone growth has been completed). They propose screening should include a thorough clinical examination and a full body MRI every two years. If an MRI is not possible than a bone scan be performed, followed by an ultrasound of the cartilage cap of any suspicious findings. The Czajka and DiCaprio further recommend that individuals with HME should be made aware of warning signs of malignant transformation and taught self examination techniques.
Source: GARD
Topic: Hereditary multiple osteochondromas
Question: What are the treatments for Hereditary multiple osteochondromas ?
Answer: How might hereditary multiple osteochondromas (HMO) be treated? Currently, there is no known medical treatment for HMO. Osteochondromas are not usually removed because they stop growing around age 12. Another consideration is how close the tumor is to the affected bone's growth plate, because surgery can affect how the bone grows. Surgery may be considered, however, if an osteochondroma is causing pain, bone fracture, nerve irritation, or if the tumor continues to grow after the person's bones have stopped growing. The surgical treatment of choice is complete removal of the tumor. Depending on the location of the osteochondroma, this may be relatively simple. However, if an osteochondroma is close to nerves and blood vessels, this may make surgery difficult and risky. Surgery may also be necessary to correct painful limb abnormalities that are caused by multiple osteochondromas. Surgery may be needed to cut and realign the bones that have become deformed, which is known as osteotomy. If the legs are not equal in length, treatment may include a procedure to slow down the growth of the longer leg. Surgery may also be needed to correct the forearm deformity seen in this condition. Adults with this condition who have untreated forearm deformities usually do not have significant functional limitations. Although rare, an osteochondroma can become cancerous (malignant), which usually takes the form of a low grade chondrosarcoma. This type of malignant tumor is unlikely to spread elsewhere in the body. Higher grades of cancer can occur, but this is even more uncommon. In that case, other therapies, such as chemotherapy and radiation, may be used in treatment. GeneReviews provides more information about treatment for hereditary multiple osteochondromas. How might a malignant transformation in hereditary multiple exostoses (HME) be treated? Chondrosarcomas in a person with HME tend to be well differentiated and low grade tumors. The tumors usually grow slowly and do not readily metastasize. Surgical removal is the recommended treatment as the condrosarcomas do not respond to radiation or chemotherapy. The prognosis or long term outlook after surgical removal of the chondrosarcoma for a person with HME is good as long as the tumor has not metastasized.
Source: GARD
Topic: Von Hippel-Lindau disease
Question: What is (are) Von Hippel-Lindau disease ?
Answer: Von Hippel-Lindau (VHL) disease is an inherited disorder characterized by the abnormal growth of both benign and cancerous tumors and cysts in many parts of the body. Tumors usually first appear in young adulthood. The types of tumors associated with VHL disease include hemangioblastomas (slow-growing tumors of the central nervous system); kidney cysts and clear cell renal cell carcinoma; pancreatic neuroendocrine tumors; pheochromocytomas (noncancerous tumors of the adrenal glands); and endolymphatic sac tumors. VHL disease is caused by a mutation in the VHL gene and is inherited in an autosomal dominant manner. Early detection and treatment of VHL disease is important, and usually involves surgical removal of tumors.
Source: GARD
Topic: Von Hippel-Lindau disease
Question: What causes Von Hippel-Lindau disease ?
Answer: What causes Von Hippel-Lindau disease? Von Hippel-Lindau (VHL) disease is caused by a mutation in the VHL gene. This gene is a tumor suppressor gene, which helps to control cell growth. Mutations in the VHL gene lead to a lack of regulation of cell growth and survival, allowing cells to grow and divide uncontrollably, forming the tumors that are associated with VHL disease.
Source: GARD
Topic: Von Hippel-Lindau disease
Question: Is Von Hippel-Lindau disease inherited ?
Answer: How is von Hippel-Lindau (VHL) disease inherited? Mutations in the gene that causes VHL disease (the VHL gene) are inherited in an autosomal dominant manner. This means that having a mutation in only one copy of the VHL gene in each cell is enough to increase a person's risk of developing VHL disease. In most autosomal dominant conditions, having one mutated copy of the responsible gene is sufficient to cause the condition. However, in VHL disease, a mutation in the other copy of the gene must occur (during a person's lifetime) to trigger the development of VHL disease. For example, a person may inherit a mutated copy of the gene from a parent, but acquiring a second mutation in the other gene copy in a specific organ may trigger tumor development in that organ. Almost everyone who is born with one VHL mutation will eventually acquire a mutation in the second copy of the gene and develop VHL disease. In most cases, an affected person inherits the first mutated gene from an affected parent. However, in about 20% of cases, the mutation occurs for the first time in a person with no family history of the condition. This is called a de novo mutation. When a person with a mutation that can lead to VHL disease has children, each of their children has a 50% (1 in 2) chance to inherit that mutation.
Source: GARD
Topic: Von Hippel-Lindau disease
Question: How to diagnose Von Hippel-Lindau disease ?
Answer: How is von Hippel-Lindau (VHL) disease diagnosed? The diagnosis of von Hippel-Lindau (VHL) disease can be made based on specific clinical criteria (signs and symptoms), or when molecular genetic testing reveals a mutation in the VHL gene. Tests that may be used to establish a clinical diagnosis include: MRI of the brain and spinal cord fundoscopy ultrasound examination or MRI of the abdomen blood and urinary catecholamine metabolites.
Source: GARD
Topic: Von Hippel-Lindau disease
Question: What are the treatments for Von Hippel-Lindau disease ?
Answer: How might von Hippel-Lindau (VHL) disease be treated? Treatment for Von Hippel-Lindau (VHL) disease depends on the location and size of tumors. In general, the goal is to treat growths when they cause symptoms, but are still small so they don't cause permanent damage. Treatment usually involves surgical removal of tumors. Radiation therapy may be used in some cases. All people with VHL disease should be carefully followed by a physician or medical team familiar with the disorder.
Source: GARD
Topic: Pelizaeus-Merzbacher disease
Question: What is (are) Pelizaeus-Merzbacher disease ?
Answer: Pelizaeus-Merzbacher disease is a disorder that affects the brain and spinal cord. It is a type of leukodystrophy and is characterized by problems with coordination, motor skills, and learning. The age of onset and the severity of the symptoms varies greatly depending on the type of disease. It is caused by an inability to form myelin due to mutations in the PLP1 gene. It is passed through families in an X-linked recessive pattern. The condition primarily affects males. Treatment requires a multidisciplinary team approach, with members dictated by the presenting symptoms.
Source: GARD
Topic: Pelizaeus-Merzbacher disease
Question: What causes Pelizaeus-Merzbacher disease ?
Answer: What causes Pelizaeus-Merzbacher disease? Pelizaeus-Merzbacher disease is caused by mutations in the PLP1 gene. This gene provides instructions for producing proteolipid protein 1 and a modified version (isoform) of proteolipid protein 1, called DM20. Proteolipid protein 1 and DM20 are primarily located in the central nervous system and are the main proteins found in myelin, the fatty covering that insulates nerve fibers. A lack of proteolipid protein 1 and DM20 can cause dysmyelination, which can impair nervous system function, resulting in the signs and symptoms of Pelizaeus-Merzbacher disease. It is estimated that 5 percent to 20 percent of people with Pelizaeus-Merzbacher disease do not have identified mutations in the PLP1 gene. In these cases, the cause of the condition is unknown.
Source: GARD
Topic: Pelizaeus-Merzbacher disease
Question: Is Pelizaeus-Merzbacher disease inherited ?
Answer: How is Pelizaeus-Merzbacher disease inherited?
Source: GARD
Topic: Pelizaeus-Merzbacher disease
Question: What are the treatments for Pelizaeus-Merzbacher disease ?
Answer: How might Pelizaeus-Merzbacher disease be treated?
Source: GARD
Topic: Microduplication Xp11.22-p11.23 syndrome
Question: What are the symptoms of Microduplication Xp11.22-p11.23 syndrome ?
Answer: What are the signs and symptoms of Microduplication Xp11.22-p11.23 syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Microduplication Xp11.22-p11.23 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 chromosome segregation 90% Cognitive impairment 90% Neurological speech impairment 90% Abnormality of the voice 50% EEG abnormality 50% Obesity 50% Pes cavus 50% Pes planus 50% Precocious puberty 50% Seizures 50% Toe syndactyly 50% Autism 7.5% Absence seizures - Hoarse voice - Intellectual disability, borderline - Nasal speech - Phenotypic variability - Poor speech - Shyness - Syndactyly - X-linked 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.
Source: GARD
Topic: Brachydactyly type A2
Question: What are the symptoms of Brachydactyly type A2 ?
Answer: What are the signs and symptoms of Brachydactyly type A2? The Human Phenotype Ontology provides the following list of signs and symptoms for Brachydactyly type A2. 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) Brachydactyly syndrome 90% Clinodactyly of the 5th finger 50% Abnormality of the metacarpal bones 7.5% Short distal phalanx of finger 7.5% 2-3 toe syndactyly - Aplasia/Hypoplasia of the middle phalanges of the toes - Aplasia/Hypoplasia of the middle phalanx of the 2nd finger - Aplasia/Hypoplasia of the middle phalanx of the 5th finger - Autosomal dominant inheritance - Bracket epiphysis of the middle phalanx of the 2nd finger - Bracket epiphysis of the middle phalanx of the 5th finger - Broad hallux - Hallux valgus - Medially deviated second toe - Radial deviation of the 2nd finger - Short 2nd finger - Short hallux - Short middle phalanx of the 5th finger - Short stature - Triangular shaped middle phalanx of the 2nd finger - Triangular shaped middle phalanx of the 5th finger - Ulnar deviation of the 2nd finger - 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