problem stringlengths 16 191 | explanation stringlengths 6 29k ⌀ | type stringlengths 3 136 ⌀ |
|---|---|---|
What are the symptoms of Spinocerebellar ataxia 34 ? | What are the signs and symptoms of Spinocerebellar ataxia 34? The Human Phenotype Ontology provides the following list of signs and symptoms for Spinocerebellar ataxia 34. 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 M... | Spinocerebellar ataxia 34 |
What is (are) Microhydranencephaly ? | Microhydranencephaly is a developmental abnormality that affects the brain. Signs and symptoms may include extreme microcephaly, scalp rugae (a series of ridges), profound developmental delay and severe intellectual disability. Imaging studies of the brain generally reveal incomplete brain formation and severe hydrocep... | Microhydranencephaly |
What are the symptoms of Microhydranencephaly ? | What are the signs and symptoms of Microhydranencephaly? Microhydranencephaly is a developmental abnormality that affects the brain. Signs and symptoms can vary but generally include: Extreme microcephaly Scalp rugae (a series of ridges) Profound developmental delay Severe intellectual disability Spasticity Imaging stu... | Microhydranencephaly |
What causes Microhydranencephaly ? | What causes microhydranencephaly? In many cases, the exact, underlying cause of microhydranencephaly is unknown. There are reports of families in which the condition is caused by changes (mutations) in the NDE1 gene. In these rare cases, more than one family member (often a pair of siblings) had the condition. | Microhydranencephaly |
Is Microhydranencephaly inherited ? | Is microhydranencephaly inherited? Most cases of microhydranencephaly occur sporadically in people with no family history of the condition. However, the condition can rarely affect more than one family member and be inherited in an autosomal recessive manner. In these cases, an affected person must have a mutation in b... | Microhydranencephaly |
How to diagnose Microhydranencephaly ? | How is microhydranencephaly diagnosed? A diagnosis of microhydranencephaly is generally suspected based on the presence of characteristic signs and symptoms. Additional testing can then be ordered to confirm the diagnosis. This generally consists of imaging studies to evaluate the brain for structural abnormalities and... | Microhydranencephaly |
What is (are) Gerstmann-Straussler-Scheinker disease ? | Gerstmann-Straussler-Scheinker disease (GSS) is a type of prion disease, which is a group of conditions that affect the nervous system. Signs and symptoms generally develop between ages 35 and 50 years and may include progressive ataxia, cognitive dysfunction, slurred speech and spasticity. On average, people affected ... | Gerstmann-Straussler-Scheinker disease |
What are the symptoms of Gerstmann-Straussler-Scheinker disease ? | What are the signs and symptoms of Gerstmann-Straussler-Scheinker disease? Signs and symptoms of Gerstmann-Straussler-Scheinker disease generally develop between ages 35 and 50 years. Affected people may experience: Progressive ataxia, including clumsiness, unsteadiness, and difficulty walking Cognitive disfunction lea... | Gerstmann-Straussler-Scheinker disease |
What causes Gerstmann-Straussler-Scheinker disease ? | What causes Gerstmann-Straussler-Scheinker disease? Gerstmann-Straussler-Scheinker disease (GSS) is usually caused by certain changes (mutations) in the PRNP gene. PRNP encodes a protein called prion protein. Although the exact function of this protein is unknown, it appears to play an important role in the human brain... | Gerstmann-Straussler-Scheinker disease |
Is Gerstmann-Straussler-Scheinker disease inherited ? | How is Gerstmann-Straussler-Scheinker disease inherited? Gerstmann-Straussler-Scheinker disease (GSS) is inherited in an autosomal dominant manner. This means that to be affected, a person only needs a change (mutation) in one copy of the responsible gene in each cell. In some cases, an affected person inherits the mut... | Gerstmann-Straussler-Scheinker disease |
How to diagnose Gerstmann-Straussler-Scheinker disease ? | How is Gerstmann-Straussler-Scheinker disease diagnosed? The diagnosis of Gerstmann-Straussler-Scheinker disease (GSS) is based on a combination of the following: Characteristic signs and symptoms Nervous system findings including multiple amyloid plaques (clumps which form in the brain and cause the death of nerve cel... | Gerstmann-Straussler-Scheinker disease |
What are the treatments for Gerstmann-Straussler-Scheinker disease ? | How might Gerstmann-Straussler-Scheinker disease be treated? The treatment of Gerstmann-Straussler-Scheinker disease (GSS) is based on the signs and symptoms present in each person. There is currently no cure for the condition and no known treatments to slow its progression. GeneReviews' Web site offers more specific i... | Gerstmann-Straussler-Scheinker disease |
What is (are) Fitz-Hugh-Curtis syndrome ? | Fitz-Hugh-Curtis syndrome (FHCS) is a condition in which a woman has swelling of the tissue covering the liver as a result of having pelvic inflammatory disease (PID). Symptoms most often include pain in the upper right abdomen just below the ribs, fever, nausea, or vomiting. The symptoms of pelvic inflammatory disea... | Fitz-Hugh-Curtis syndrome |
What are the treatments for Fitz-Hugh-Curtis syndrome ? | How might Fitz-Hugh-Curtis syndrome be treated? Fitz-Hugh-Curtis syndrome (FHCS) is treated with antibiotics, given by intravenous (IV) injection or as medication taken by mouth. The specific antibiotic medication is determined by the type of underlying infection; that is, treatment depends on whether the infection is... | Fitz-Hugh-Curtis syndrome |
What is (are) Psoriatic juvenile idiopathic arthritis ? | Psoriatic juvenile idiopathic arthritis is a subtype of juvenile idiopathic arthritis that is characterized by both arthritis and psoriasis. Other signs and symptoms may include dactylitis (inflammation and swelling of an entire finger or toe); nail pitting or splitting; and eye problems. Although the underlying cause ... | Psoriatic juvenile idiopathic arthritis |
What are the symptoms of Diffuse mesangial sclerosis ? | What are the signs and symptoms of Diffuse mesangial sclerosis? The Human Phenotype Ontology provides the following list of signs and symptoms for Diffuse mesangial sclerosis. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePl... | Diffuse mesangial sclerosis |
What are the symptoms of Renal hypouricemia ? | What are the signs and symptoms of Renal hypouricemia? The Human Phenotype Ontology provides the following list of signs and symptoms for Renal hypouricemia. 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 Diction... | Renal hypouricemia |
What are the symptoms of Lipase deficiency combined ? | What are the signs and symptoms of Lipase deficiency combined? The Human Phenotype Ontology provides the following list of signs and symptoms for Lipase deficiency combined. 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... | Lipase deficiency combined |
What are the symptoms of Keratolytic winter erythema ? | What are the signs and symptoms of Keratolytic winter erythema? The Human Phenotype Ontology provides the following list of signs and symptoms for Keratolytic winter erythema. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePl... | Keratolytic winter erythema |
What are the symptoms of Frontotemporal dementia, ubiquitin-positive ? | What are the signs and symptoms of Frontotemporal dementia, ubiquitin-positive? The Human Phenotype Ontology provides the following list of signs and symptoms for Frontotemporal dementia, ubiquitin-positive. If the information is available, the table below includes how often the symptom is seen in people with this cond... | Frontotemporal dementia, ubiquitin-positive |
What is (are) Glucocorticoid-remediable aldosteronism ? | Glucocorticoid-remediable aldosteronism is one of three types of familial hyperaldosteronism and was first described in 1966. Aldosterone is a hormone manufactured by the adrenal glands which helps the body retain water and sodium and excrete potassium. It is caused by a fusion of the CYP11B1 and CYP11B2 genes and is i... | Glucocorticoid-remediable aldosteronism |
What are the symptoms of Glucocorticoid-remediable aldosteronism ? | What are the signs and symptoms of Glucocorticoid-remediable aldosteronism? The Human Phenotype Ontology provides the following list of signs and symptoms for Glucocorticoid-remediable aldosteronism. If the information is available, the table below includes how often the symptom is seen in people with this condition. Y... | Glucocorticoid-remediable aldosteronism |
What is (are) Hypopituitarism ? | Hypopituitarism occurs when the body has low levels of certain hormones made by the pituitary gland. The pituitary gland normally makes several hormones (including growth hormone, thyroid stimulating hormone, adrenocorticotropic hormone, prolactin, follicle stimulating hormone and luteinizing hormone, vasopressin, and... | Hypopituitarism |
What is (are) Lamellar ichthyosis ? | Lamellar ichthyosis is a rare genetic condition that affects the skin. Infants affected by lamellar ichthyosis are generally born with a shiny, waxy layer of skin (called a collodian membrane) that is typically shed within the first two weeks of life. The skin beneath the collodian membrane is red and scaly. Other sign... | Lamellar ichthyosis |
What are the symptoms of Lamellar ichthyosis ? | What are the signs and symptoms of Lamellar ichthyosis? The Human Phenotype Ontology provides the following list of signs and symptoms for Lamellar ichthyosis. 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 Dicti... | Lamellar ichthyosis |
What are the treatments for Lamellar ichthyosis ? | How might lamellar ichthyosis be treated? Unfortunately, there is currently no cure for lamellar ichthyosis. Management is generally supportive and based on the signs and symptoms present in each person. For infants, providing a moist environment in an isolette (incubator) and preventing infection are most important. P... | Lamellar ichthyosis |
What are the symptoms of Neutrophil-specific granule deficiency ? | What are the signs and symptoms of Neutrophil-specific granule deficiency? The Human Phenotype Ontology provides the following list of signs and symptoms for Neutrophil-specific granule deficiency. If the information is available, the table below includes how often the symptom is seen in people with this condition. You... | Neutrophil-specific granule deficiency |
What is (are) Pectus carinatum ? | Pectus carinatum refers to a chest wall abnormality in which the breastbone is pushed outward. It generally presents during childhood and worsens through adolescence. If the condition occurs in isolation, it is often not associated with any additional signs or symptoms. Rarely, affected people report shortness of breat... | Pectus carinatum |
What is (are) Charcot-Marie-Tooth disease type 2F ? | Charcot-Marie-Tooth disease type 2F (CMT2F) is a genetic disorder of the peripheral nerves. The subtypes of CMT type 2 (including type 2F) have similar features and are distinguished only by their disease-causing genes. Signs and symptoms usually begin between the ages of 5 and 25 and typically include slowly progressi... | Charcot-Marie-Tooth disease type 2F |
What are the symptoms of Charcot-Marie-Tooth disease type 2F ? | What are the signs and symptoms of Charcot-Marie-Tooth disease type 2F? The subtypes of Charcot-Marie-Tooth type 2, including type 2F, have similar signs and symptoms. Affected individuals usually become symptomatic between the ages of 5 and 25, though onset can range from infancy to after the third decade of life. The... | Charcot-Marie-Tooth disease type 2F |
What causes Charcot-Marie-Tooth disease type 2F ? | What causes Charcot-Marie-Tooth disease type 2F? Charcot-Marie-Tooth disease type 2F (CMT2F) is caused by mutations in the HSPB1 gene. This gene provides instructions for making a protein (heat shock protein beta-1) which helps protect cells under adverse conditions. Heat shock proteins appear to be involved in activit... | Charcot-Marie-Tooth disease type 2F |
Is Charcot-Marie-Tooth disease type 2F inherited ? | How is Charcot-Marie-Tooth disease type 2F inherited? Charcot-Marie-Tooth disease type 2F is inherited in an autosomal dominant manner. This means that only one mutated copy of the gene in each cell is sufficient to cause the condition. Most affected individuals inherit the mutated gene from an affected parent, but in ... | Charcot-Marie-Tooth disease type 2F |
How to diagnose Charcot-Marie-Tooth disease type 2F ? | Is genetic testing available for Charcot-Marie-Tooth disease type 2F? Yes. GeneTests lists the names of laboratories that are performing clincial genetic testing for Charcot-Marie-Tooth disease type 2F. To view the contact information for these laboratories, click here. Please note that most of the laboratories listed ... | Charcot-Marie-Tooth disease type 2F |
What are the treatments for Charcot-Marie-Tooth disease type 2F ? | How might Charcot-Marie-Tooth disease type 2F be treated? Treatment for Charcot-Marie-Tooth disease type 2 mainly focuses on the specific symptoms present. Affected individuals are often managed by a team of various specialists that includes neurologists, physiatrists, orthopedic surgeons, and physical and occupational... | Charcot-Marie-Tooth disease type 2F |
What is (are) Adiposis dolorosa ? | Adiposis dolorosa is a rare condition characterized by the growth of multiple, painful, lipomas (benign, fatty tumors). The lipomas may occur anywhere on the body and can cause severe pain. Other symptoms may include weakness, fatigability, and mental disturbances. It usually occurs in obese, post-menopausal women, but... | Adiposis dolorosa |
What are the symptoms of Adiposis dolorosa ? | What are the signs and symptoms of Adiposis dolorosa? Adiposis dolorosa is primarily characterized by the development of muliple, painful lipomas (benign, fatty tumors). It is often associated with obesity; physical weakness and lack of energy; and various other symptoms including depression, confusion, dementia and/or... | Adiposis dolorosa |
What causes Adiposis dolorosa ? | What causes adiposis dolorosa? The exact cause of adiposis dolorosa remains unknown. While possible causes have been suggested, none have been confirmed. These include long-term treatment with high-dose corticosteroids; endocrine system abnormalities; and changes in fatty acid or carbohydrate metabolism. Researchers ha... | Adiposis dolorosa |
Is Adiposis dolorosa inherited ? | Is adiposis dolorosa inherited? Most cases of adiposis dolorosa are sporadic (not inherited). This means that it usually occurs in people with no family history of the condition. Adiposis dolorosa has rarely been reported to occur in more than one family member. In some of these cases, it appears to have been inherited... | Adiposis dolorosa |
How to diagnose Adiposis dolorosa ? | Is genetic testing available for adiposis dolorosa? Clinical genetic testing for adiposis dolorosa is currently not available. This type of testing is typically only available when a genetic cause for a condition has been established, and the specific gene(s) causing the condition have been identified. Most cases of ad... | Adiposis dolorosa |
What are the treatments for Adiposis dolorosa ? | How might adiposis dolorosa be treated? Management of adiposis dolorosa is difficult and no currently available treatments have led to long-lasting, complete pain reduction. Weight reduction, surgical removal of particularly burdensome lesions, and/or liposuction may be helpful for some people. There is currently no dr... | Adiposis dolorosa |
What is (are) Axial spondylometaphyseal dysplasia ? | Axial spondylometaphyseal dysplasia is a genetic disorder of bone growth. The term axial means towards the center of the body. Sphondylos is a Greek term meaning vertebra. Metaphyseal dysplasia refers to abnormalities at the ends of long bones. Axial spondylometaphyseal dysplasia primarily affects the bones of the ches... | Axial spondylometaphyseal dysplasia |
What are the symptoms of Axial spondylometaphyseal dysplasia ? | What are the signs and symptoms of Axial spondylometaphyseal dysplasia? Common signs and sympotms of axial spondylometaphyseal dysplasia, include short stature, chest, spine, limb, and pelvic bone changes, and vision disturbance. People with axial spondylometaphyseal dysplasia may have a normal birth length, but demons... | Axial spondylometaphyseal dysplasia |
What are the treatments for Axial spondylometaphyseal dysplasia ? | How might axial spondylometaphyseal dysplasia be treated? Is growth hormone therapy an option? Is surgery helpful? Can the vision problems be corrected? There is no specific treatment for axial spondylometaphyseal dysplasia. Symptoms such as lung infections, breathing difficulties, coxa vara, scoliosis, retinitis pigme... | Axial spondylometaphyseal dysplasia |
What is (are) Thoracic outlet syndrome ? | Thoracic outlet syndrome refers to the many signs and symptoms caused from compression of the group of nerves and blood vessels in the area just above the first rib and behind the clavicle. The term thoracic outlet syndrome is not a specific diagnosis, but refers to a group of conditions, namely neurogenic (nTOS), veno... | Thoracic outlet syndrome |
What are the symptoms of Thoracic outlet syndrome ? | What are the signs and symptoms of Thoracic outlet syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Thoracic outlet 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 Med... | Thoracic outlet syndrome |
Is Thoracic outlet syndrome inherited ? | Are cervical ribs inherited? Cervical ribs are actually thought to be a common trait. It has been estimated that 1 to 2% of the population have a cervical rib. Cervical ribs can affect one or both sides of the neck, and may cause thoracic outlet syndrome by putting pressure on an artery. Currently, the cause of cervic... | Thoracic outlet syndrome |
How to diagnose Thoracic outlet syndrome ? | How is thoracic outlet syndrome diagnosed? Diagnosis may include nerve conduction studies, ultrasounds or MRI scans or computed tomographic imaging studies.The diagnosis of neurogenic TOS is especially difficult and may involve many exams, multiple specialist visits, and many different treatments. A number of disorders... | Thoracic outlet syndrome |
What is (are) Chronic active Epstein-Barr virus infection ? | Chronic active Epstein-Barr virus infection is a rare condition in which the body makes too many lymphocytes, a type of white blood cell. Lymphocytes are an important part of the immune system because they help fight off diseases and protect the body from infection. About 95% of adults are infected with Epstein-Barr vi... | Chronic active Epstein-Barr virus infection |
What are the symptoms of Chronic active Epstein-Barr virus infection ? | What are the signs and symptoms of Chronic active Epstein-Barr virus infection? The Human Phenotype Ontology provides the following list of signs and symptoms for Chronic active Epstein-Barr virus infection. If the information is available, the table below includes how often the symptom is seen in people with this cond... | Chronic active Epstein-Barr virus infection |
What are the symptoms of Optic atrophy 1 and deafness ? | What are the signs and symptoms of Optic atrophy 1 and deafness? The Human Phenotype Ontology provides the following list of signs and symptoms for Optic atrophy 1 and deafness. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the Medline... | Optic atrophy 1 and deafness |
What is (are) Potocki-Shaffer syndrome ? | Potocki-Shaffer syndrome is a contiguous gene deletion syndrome associated with deletions in a specific region of chromosome 11 (11p11.2). The characteristic features of Potocki-Shaffer syndrome include openings in the two bones that form the top and sides of the skull (enlarged parietal foramina), multiple benign bone... | Potocki-Shaffer syndrome |
What are the symptoms of Potocki-Shaffer syndrome ? | What are the signs and symptoms of Potocki-Shaffer syndrome? The signs and symptoms can vary depending on the area and amount deleted. Some individuals with the syndrome have few issues and lead a normal life while others are very severely affected. The following signs and symptoms may be present: Enlarged parietal fo... | Potocki-Shaffer syndrome |
What are the treatments for Potocki-Shaffer syndrome ? | 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 anirid... | Potocki-Shaffer syndrome |
What are the symptoms of Charcot-Marie-Tooth disease type 1B ? | 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 u... | Charcot-Marie-Tooth disease type 1B |
What are the symptoms of Taurodontia absent teeth sparse hair ? | 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... | Taurodontia absent teeth sparse hair |
What are the symptoms of Ichthyosis-mental retardation syndrome with large keratohyalin granules in the skin ? | 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,... | Ichthyosis-mental retardation syndrome with large keratohyalin granules in the skin |
What is (are) Isolated levocardia ? | 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 ... | Isolated levocardia |
How to diagnose Isolated levocardia ? | 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 org... | Isolated levocardia |
What are the symptoms of Chondrodysplasia acromesomelic with genital anomalies ? | 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 p... | Chondrodysplasia acromesomelic with genital anomalies |
What are the symptoms of Pitt-Hopkins-like syndrome ? | 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... | Pitt-Hopkins-like syndrome |
What is (are) Coats disease ? | 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 pup... | Coats disease |
What are the symptoms of Coats disease ? | 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 a... | Coats disease |
What causes Coats disease ? | 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 lea... | Coats disease |
Is Coats disease inherited ? | 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 dis... | Coats disease |
How to diagnose Coats disease ? | 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 geneti... | Coats disease |
What are the treatments for Coats disease ? | 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 vessel... | Coats disease |
What is (are) Hereditary angiopathy with nephropathy, aneurysms, and muscle cramps syndrome ? | 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 br... | Hereditary angiopathy with nephropathy, aneurysms, and muscle cramps syndrome |
What are the symptoms of Hereditary angiopathy with nephropathy, aneurysms, and muscle cramps syndrome ? | 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 b... | Hereditary angiopathy with nephropathy, aneurysms, and muscle cramps syndrome |
What are the treatments for Hereditary angiopathy with nephropathy, aneurysms, and muscle cramps syndrome ? | 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... | Hereditary angiopathy with nephropathy, aneurysms, and muscle cramps syndrome |
What is (are) Cornelia de Lange syndrome ? | Cornelia de Lange syndrome (CdLS) is a developmental disorder that affects many parts of the body. The severity of the condition and the associated signs and symptoms can vary widely, but may include distinctive facial characteristics, growth delays, intellectual disability and limb defects. Approximately 65% of people... | Cornelia de Lange syndrome |
What are the symptoms of Cornelia de Lange syndrome ? | What are the signs and symptoms of Cornelia de Lange syndrome? The signs and symptoms of Cornelia de Lange syndrome (CdLS) vary widely among affected people and can range from relatively mild to severe. Affected people may experience: Slowed growth before and after birth Intellectual disability Developmental delay Auti... | Cornelia de Lange syndrome |
What causes Cornelia de Lange syndrome ? | What causes Cornelia de Lange syndrome? Most cases (approximately 65%) of Cornelia de Lange syndrome (CdLS) are caused by changes (mutations) in the NIPBL gene. An additional 5% of people affected by the condition have mutations in one of four known genes (SMC1A, SMC3, HDAC8 and RAD21). Many of the genes associated wit... | Cornelia de Lange syndrome |
Is Cornelia de Lange syndrome inherited ? | Is Cornelia de Lange syndrome inherited? Cornelia de Lange syndrome (CdLS) can be inherited in an autosomal dominant (NIPBL, SMC2, or RAD21) or X-linked (SMC1A or HDAC8) manner depending on the underlying genetic cause. However, most cases (more than 99%) result from new (de novo) mutations and occur in people with no ... | Cornelia de Lange syndrome |
How to diagnose Cornelia de Lange syndrome ? | How is Cornelia de Lange syndrome diagnosed? A diagnosis of Cornelia de Lange syndrome (CdLS) is generally based on the presence of characteristic signs and symptoms during a thorough medical evaluation. In some cases, genetic testing can be ordered to confirm the diagnosis; however, it may not be informative in all pe... | Cornelia de Lange syndrome |
What are the treatments for Cornelia de Lange syndrome ? | How might Cornelia de Lange syndrome be treated? Because Cornelia de Lange syndrome (CdLS) affects many different systems of the body, medical management is often provided by a team of doctors and other healthcare professionals. Treatment for this condition varies based on the signs and symptoms present in each person.... | Cornelia de Lange syndrome |
What are the symptoms of Encephalocraniocutaneous lipomatosis ? | What are the signs and symptoms of Encephalocraniocutaneous lipomatosis? The Human Phenotype Ontology provides the following list of signs and symptoms for Encephalocraniocutaneous lipomatosis. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can... | Encephalocraniocutaneous lipomatosis |
What is (are) Norum disease ? | Norum disease is an autosomal recessive disorder of lipoprotein metabolism that causes a typical triad of diffuse corneal opacities, target cell hemolytic anemia, and proteinuria with renal (kidney) failure. Two clinical forms are recognized: familial LCAT deficiency and fish-eye disease. Familial LCAT deficiency is as... | Norum disease |
What are the symptoms of Norum disease ? | What are the signs and symptoms of Norum disease? Norum disease is marked by low plasma HDL levels and corneal clouding due to accumulation of cholesterol deposits in the cornea ('fish-eye'). Corneal opacity is often present at birth, beginning at the periphery of the cornea and progressing gradually to the center. Hem... | Norum disease |
What causes Norum disease ? | What causes Norum disease? Norum disease is caused by defects in the LCAT gene. The clinical manifestations of LCAT deficiency are probably due to a defect in LCAT-mediated cholesterol ester formation and, therefore, accumulation of unesterified cholesterol in certain tissues, such as the cornea, kidneys, and erythrocy... | Norum disease |
Is Norum disease inherited ? | How is Norum disease inherited? Norum disease is transmitted as an autosomal recessive trait, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of ... | Norum disease |
What are the treatments for Norum disease ? | How might Norum disease be treated? Symptomatic treatment for anemia, renal insufficiency, and atherosclerosis is indicated. LCAT gene therapy or liver transplantation theoretically would be a treatment of choice to correct the underlying pathophysiology, but neither procedure has been reported. Short-term whole blood ... | Norum disease |
What is (are) Amyloidosis AA ? | Amyloidosis is a group of diseases in which a protein, called amyloid, builds up in the body's organs and tissues. Amyloidosis AA is also referred to as Secondary amyloidosis or Inflammatory amyloidosis. This disease is caused by a long-lasting infection or inflammatory disease such as rheumatoid arthritis, familial Me... | Amyloidosis AA |
What are the treatments for Amyloidosis AA ? | What are the most current treatments for this disease? In amyloidosis AA, the treatment depends on the underlying disease. It is important to control the chronic infection or inflammatory disease which is responsible for the amyloid. Both surgery and medication can be used to achieve successful treatment outcomes for p... | Amyloidosis AA |
What is (are) Brachydactyly type C ? | Brachydactyly type C is a very rare congenital condition that is characterized by shortening of certain bones in the index, middle and little fingers. The bones of the ring finger are typically normal. Other abnormalities may also be present such as hypersegmentation (extra bones) of the index and middle fingers; ulnar... | Brachydactyly type C |
What are the symptoms of Brachydactyly type C ? | What are the signs and symptoms of Brachydactyly type C? The Human Phenotype Ontology provides the following list of signs and symptoms for Brachydactyly type C. 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 Dic... | Brachydactyly type C |
What are the symptoms of Say-Field-Coldwell syndrome ? | What are the signs and symptoms of Say-Field-Coldwell syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Say-Field-Coldwell 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 MedlinePl... | Say-Field-Coldwell syndrome |
What is (are) Tetralogy of Fallot ? | Tetralogy of Fallot is a complex congenital heart defect characterized by a large ventricular septal defect (hole between the right and left ventricles), pulmonary stenosis (narrowing of the valve and artery that connect the heart with the lungs), an overriding aorta (the aorta - the artery that carries oxygen-rich blo... | Tetralogy of Fallot |
What are the symptoms of Tetralogy of Fallot ? | What are the signs and symptoms of Tetralogy of Fallot? The Human Phenotype Ontology provides the following list of signs and symptoms for Tetralogy of Fallot. 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 Dicti... | Tetralogy of Fallot |
What is (are) X-linked creatine deficiency ? | X-linked creatine deficiency is a rare condition that primarily affects the brain. Signs and symptoms generally develop before age 2 and may include mild to severe intellectual disability; delayed speech development, behavioral problems (i.e. autistic features, hyperactivity), and seizures. Less commonly, affected peop... | X-linked creatine deficiency |
What are the symptoms of X-linked creatine deficiency ? | What are the signs and symptoms of X-linked creatine deficiency? The Human Phenotype Ontology provides the following list of signs and symptoms for X-linked creatine 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 Medline... | X-linked creatine deficiency |
What is (are) Neuronal ceroid lipofuscinosis 5 ? | Neuronal ceroid lipofuscinosis 5 (CLN5-NCL) is a rare condition that affects the nervous system. Signs and symptoms of the condition generally develop between ages 4.5 and 7 years, although later onset cases have been reported. Affected people may experience loss of muscle coordination (ataxia), seizures that do not re... | Neuronal ceroid lipofuscinosis 5 |
What are the symptoms of Neuronal ceroid lipofuscinosis 5 ? | What are the signs and symptoms of Neuronal ceroid lipofuscinosis 5? The Human Phenotype Ontology provides the following list of signs and symptoms for Neuronal ceroid lipofuscinosis 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... | Neuronal ceroid lipofuscinosis 5 |
What is (are) Progressive transformation of germinal centers ? | Progressive transformation of germinal centers is a condition in which a lymph node becomes very enlarged (lymphadenopathy). Typically, only one lymph node is affected, though PTGC can involve multiple lymph nodes. The neck is the most common location of affected lymph nodes, but PTGC may also affect lymph nodes in t... | Progressive transformation of germinal centers |
What causes Progressive transformation of germinal centers ? | What causes progressive transformation of germinal centers? Is it genetic? The cause of progressive transformation of germinal centers (PTGC) is currently unknown. Also, there is no evidence in the medical literature that PTGC is a genetic condition. | Progressive transformation of germinal centers |
What are the treatments for Progressive transformation of germinal centers ? | What treatment is available for progressive transformation of germinal centers? Because progressive transformation of germinal centers (PTGC) is considered a benign condition and usually has no symptoms other than the enlarged lymph node, no treatment is necessary. The enlarged lymph node may stay the same size or shri... | Progressive transformation of germinal centers |
What is (are) Barraquer-Simons syndrome ? | Barraquer-Simons syndrome, or acquired partial lipodystrophy, is characterized by the loss of fat from the face, neck, shoulders, arms, forearms, chest and abdomen. Occasionally the groin or thighs are also affected. Onset usually begins in childhood following a viral illness. It affects females more often than males. ... | Barraquer-Simons syndrome |
What are the symptoms of Barraquer-Simons syndrome ? | What are the signs and symptoms of Barraquer-Simons syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Barraquer-Simons 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 M... | Barraquer-Simons syndrome |
What are the treatments for Barraquer-Simons syndrome ? | How might Barraquer-Simons syndrome be treated? Surgery may be used to improve a person's appearance, but is not needed for medical reasons. Facial reconstruction techniques may be used with varying success. These techniques may include transplantation of fat tissue, silicone implants, movement of facial muscles, or ot... | Barraquer-Simons syndrome |
What is (are) Chromosome 4q deletion ? | Chromosome 4q deletion is a chromosome abnormality that affects many different parts of the body. People with this condition are missing genetic material located on the long arm (q) of chromosome 4 in each cell. The severity of the condition and the associated signs and symptoms vary based on the size and location of t... | Chromosome 4q deletion |
What are the symptoms of Chromosome 4q deletion ? | What are the signs and symptoms of chromosome 4q deletion? The signs and symptoms of chromosome 4q deletion vary significantly depending on the size and location of the deletion and which genes are involved. Common features that may be shared by affected people include: Distinctive craniofacial features such as a depre... | Chromosome 4q deletion |
Subsets and Splits
No community queries yet
The top public SQL queries from the community will appear here once available.