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What are the treatments for Lymphocytic infiltrate of Jessner ? | How might lymphocytic infiltrate of Jessner be treated? Lymphocytic infiltrate of Jessner may require no treatment (since it can resolve spontaneously), but some patients benefit from cosmetic camouflage, photoprotection, excision of small lesions, topical steroids, intralesional steroids, oral hydroxychloroquine, syst... | Lymphocytic infiltrate of Jessner |
What is (are) Pontocerebellar hypoplasia type 1 ? | Pontocerebellar hypoplasia type 1 (PCH1) is a genetic condition that affects the development of the brain. Individuals with this condition have an unusually small and underdeveloped cerebellum, which is the part of the brain that coordinates movement. A region of the brain called the pons also fails to develop properly... | Pontocerebellar hypoplasia type 1 |
What are the symptoms of Pontocerebellar hypoplasia type 1 ? | What are the signs and symptoms of Pontocerebellar hypoplasia type 1? Pontocerebellar hypoplasia type 1 (PCH1) may first present in the prenatal period with reduced fetal movement. Polyhydramnios may also be noted. In most cases, the condition is obvious in the newborn period when respiratory insufficiency and muscle w... | Pontocerebellar hypoplasia type 1 |
What causes Pontocerebellar hypoplasia type 1 ? | What causes pontocerebellar hypoplasia type 1? A specific mutations in the VRK1 gene has caused PCH1 in at least one family. Specific mutations in RARS2 and TSEN54 have also been associated with PCH1. TSEN54 mutations were identified in one case from a family with three siblings with PCH1; DNA was only available in one... | Pontocerebellar hypoplasia type 1 |
Is Pontocerebellar hypoplasia type 1 inherited ? | How is pontocerebellar hypoplasia type 1 inherited? Pontocerebellar hypoplasia type 1 (PCH1) is inherited in an autosomal recessive pattern, which means both copies of the associated gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated g... | Pontocerebellar hypoplasia type 1 |
What are the treatments for Pontocerebellar hypoplasia type 1 ? | How might pontocerebellar hypoplasia type 1 be treated? There is no standard therapy for pontocerebellar hypoplasia type 1. Treatment is symptomatic and supportive. | Pontocerebellar hypoplasia type 1 |
What is (are) Limbic encephalitis ? | Limbic encephalitis is a condition marked by the inflammation of the limbic system and other parts of the brain. The cardinal sign of limbic encephalitis is a severe impairment of short-term memory; however, symptoms may also include confusion, psychiatric symptoms, and seizures. The symptoms typically develop over a f... | Limbic encephalitis |
What are the symptoms of Limbic encephalitis ? | What symptoms are associated with limbic encephalitis? Although the symptoms of the condition may vary from person to person, the cardinal sign of limbic encephalitis is severe impairment of short-term memory, with most patients having difficulties in recall. A large variety of symptoms may be associated with limbic e... | Limbic encephalitis |
What causes Limbic encephalitis ? | What causes limbic encephalitis? In many patients limbic encephalitis is a paraneoplastic syndrome, which is most commonly associated with small cell lung cancer (SCLC), breast cancer, testicular tumors, teratomas, Hodgkin's lymphoma, and thymomas. Out of the various cancers linked to limbic encephalitis, the typicall... | Limbic encephalitis |
What are the treatments for Limbic encephalitis ? | What treatment is available for limbic encephalitis? Treatment will vary depending on whether the patient has a paraneoplastic form of limbic encephalitis or not. If the patient has a viral infectious form of the condition, an antiviral drug may be prescribed. When a tumor is found in association with a possible para... | Limbic encephalitis |
What is (are) Microcystic adnexal carcinoma ? | Microcystic adnexal carcinoma is a rare tumor of the skin that most often develops in the head and neck region, particularly in the middle of the face, though it may occur in the skin of other parts of the body as well. The average age of diagnosis is 56. This tumor is often first noticed as a bump or yellowish spot ... | Microcystic adnexal carcinoma |
What are the symptoms of Microcystic adnexal carcinoma ? | What are the symptoms of microcystic adnexal carcinoma? Microcystic adnexal carcinoma appears as a smooth bump or patch that is slightly raised from the surrounding skin. It may be flesh-colored or yellowish, and it increases in size over time. A microcystic adnexal carcinoma may grow into nerves nearby, which can ca... | Microcystic adnexal carcinoma |
What are the treatments for Microcystic adnexal carcinoma ? | Is radiation therapy a recommended treatment for microcystic adnexal carcinoma? Unfortunately, because microcystic adnexal carcinoma is a rare cancer, there is currently not enough information to determine if radiation therapy is an effective treatment for this disease. There are no guidelines for the use of radiation... | Microcystic adnexal carcinoma |
What is (are) Charcot-Marie-Tooth disease type 1A ? | Charcot-Marie-Tooth disease type 1A (CMT1A) is a type of inherited neurological disorder that affects the peripheral nerves. Affected individuals experience weakness and wasting (atrophy) of the muscles of the lower legs beginning in adolescence; later they experience hand weakness and sensory loss. CMT1A is caused by ... | Charcot-Marie-Tooth disease type 1A |
What are the symptoms of Charcot-Marie-Tooth disease type 1A ? | What are the signs and symptoms of Charcot-Marie-Tooth disease type 1A? CMT1 is generally slowly progressive over many years. However, affected individuals often experience long periods without any obvious deterioration or progression. Occasionally, individuals show accelerated deterioration of function over a few year... | Charcot-Marie-Tooth disease type 1A |
What is (are) Aicardi-Goutieres syndrome type 5 ? | Aicardi-Goutieres syndrome is an inherited condition that mainly affects the brain, immune system, and skin. It is characterized by early-onset severe brain dysfunction (encephalopathy) that usually results in severe intellectual and physical disability. Additional symptoms may include epilepsy, painful, itchy skin les... | Aicardi-Goutieres syndrome type 5 |
What are the symptoms of Aicardi-Goutieres syndrome type 5 ? | What are the signs and symptoms of Aicardi-Goutieres syndrome type 5? The Human Phenotype Ontology provides the following list of signs and symptoms for Aicardi-Goutieres syndrome 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 t... | Aicardi-Goutieres syndrome type 5 |
What is (are) Urea cycle disorders ? | A urea cycle disorder is a genetic disorder that results in a deficiency of one of the six enzymes in the urea cycle. These enzymes are responsible for removing ammonia from the blood stream. The urea cycle involves a series of biochemical steps in which nitrogen, a waste product of protein metabolism, is changed to a ... | Urea cycle disorders |
What is (are) Juvenile ossifying fibroma ? | Juvenile ossifying fibroma (JOF) is rare, benign tumor of the craniofacial (skull and face) bones. It is considered a "fibro-osseous neoplasm" because it is characterized by an overgrowth of bone. Affected people generally experience a gradual or rapid, painless expansion of the affected bone or region. Other symptoms ... | Juvenile ossifying fibroma |
What are the symptoms of Epilepsy occipital calcifications ? | What are the signs and symptoms of Epilepsy occipital calcifications? The Human Phenotype Ontology provides the following list of signs and symptoms for Epilepsy occipital calcifications. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use t... | Epilepsy occipital calcifications |
What is (are) Febrile Ulceronecrotic Mucha-Habermann disease ? | Febrile ulceronecrotic Mucha-Habermann disease (FUMHD) is a rare and severe form of pityriasis lichenoides et varioliformis acuta (PLEVA). PLEVA is characterized by skin lesions that ulcerate, breakdown, form open sores, then form a red-brown crust. FUMHD often begins as PLEVA, but then rapidly and suddenly progresses ... | Febrile Ulceronecrotic Mucha-Habermann disease |
What are the symptoms of Febrile Ulceronecrotic Mucha-Habermann disease ? | What are the signs and symptoms of febrile ulceronecrotic Mucha-Habermann disease? Initial symptoms of FUMHD include red scaly skin legions (papules) that ulcerate, breakdown, form open sores, then a red-brown crust (i.e., PLEVA). In FUMHD the legions suddenly progress to large, destructive ulcers and can be associate... | Febrile Ulceronecrotic Mucha-Habermann disease |
What causes Febrile Ulceronecrotic Mucha-Habermann disease ? | What causes febrile ulceronecrotic Mucha-Habermann disease? The cause of FUMHD is not known (idiopathic). A hypersensitivity to an infectious agent is suggested to be the main cause. Single cases of people with FUMHD and Epstein-Barr virus infection, adenovirus, or cytomegalovirus have been reported, but there has been... | Febrile Ulceronecrotic Mucha-Habermann disease |
How to diagnose Febrile Ulceronecrotic Mucha-Habermann disease ? | How is febrile ulceronecrotic Mucha-Habermann disease definitively diagnosed? FUMHD is diagnosed based upon the clinical symptoms in the patient, with confirmation by skin biopsy. Skin biopsy findings suggestive of FUMHD are outlined below. Because this information is technical we recommend that you review it with a he... | Febrile Ulceronecrotic Mucha-Habermann disease |
What are the treatments for Febrile Ulceronecrotic Mucha-Habermann disease ? | How is febrile ulceronecrotic Mucha-Habermann disease (FUMHD) treated? It is important that FUMHD is diagnosed and treated as soon as possible. While a number of treatments have been tried, it is hard to asses the benefit of the therapies because there are so few cases of FUMHD and among reported cases the treatment ap... | Febrile Ulceronecrotic Mucha-Habermann disease |
What is (are) Chromosome 8q24.3 deletion syndrome ? | Chromosome 8q24.3 deletion syndrome is a chromosome abnormality that occurs when there is a missing copy of the genetic material located on chromosome 8 at a location designated q24.3. The signs and symptoms vary but may include slow growth, developmental delay, characteristic facial features, and skeletal abnormalitie... | Chromosome 8q24.3 deletion syndrome |
What are the symptoms of Chromosome 8q24.3 deletion syndrome ? | What are the signs and symptoms of Chromosome 8q24.3 deletion syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Chromosome 8q24.3 deletion syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can u... | Chromosome 8q24.3 deletion syndrome |
What are the symptoms of Dwarfism tall vertebrae ? | What are the signs and symptoms of Dwarfism tall vertebrae? The Human Phenotype Ontology provides the following list of signs and symptoms for Dwarfism tall vertebrae. 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 Medic... | Dwarfism tall vertebrae |
What is (are) L-2-hydroxyglutaric aciduria ? | L-2-hydroxyglutaric aciduria is an inherited metabolic condition that is associated with progressive brain damage. Signs and symptoms of this condition typically begin during infancy or early childhood and may include developmental delay, seizures, speech difficulties, macrocephaly and abnormalities in a part of the br... | L-2-hydroxyglutaric aciduria |
What are the symptoms of L-2-hydroxyglutaric aciduria ? | What are the signs and symptoms of L-2-hydroxyglutaric aciduria? The Human Phenotype Ontology provides the following list of signs and symptoms for L-2-hydroxyglutaric aciduria. 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... | L-2-hydroxyglutaric aciduria |
What is (are) Fatal familial insomnia ? | Fatal familial insomnia (FFI) is an inherited prion disease that affects the brain and other parts of the nervous system. Prion diseases, also known as transmissible spongiform encephalopathies (TSE), are a group of rare neurodegenerative conditions that occur when abnormal proteins clump together and accumulate in the... | Fatal familial insomnia |
What are the symptoms of Fatal familial insomnia ? | What are the signs and symptoms of Fatal familial insomnia? The first signs and symptoms of fatal familial insomnia (FFI) generally develop in midlife (40s to 50s) and may include insomnia that worsens over time and vivid dreams when sleep is achieved. As the disease progresses and disturbs the autonomic nervous system... | Fatal familial insomnia |
What causes Fatal familial insomnia ? | What causes fatal familial insomnia? Fatal familial insomnia (FFI) is caused by a specific change (mutation) in the PRNP gene. PRNP encodes the prion protein. Although the exact function of this protein is unknown, scientists suspect that it plays an important role in the brain. Mutations in the PRNP gene result in an ... | Fatal familial insomnia |
Is Fatal familial insomnia inherited ? | How is fatal familial insomnia inherited? Fatal familial insomnia (FFI) 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 mutation from an affected parent.... | Fatal familial insomnia |
How to diagnose Fatal familial insomnia ? | Is genetic testing available for fatal familial insomnia? Yes, genetic testing is available for PRNP, the gene known to cause fatal familial insomnia (FFI). Carrier testing for at-risk relatives and prenatal testing are possible if the disease-causing mutation in the family is known. The Genetic Testing Registry (GTR) ... | Fatal familial insomnia |
What are the treatments for Fatal familial insomnia ? | How might fatal familial insomnia be treated? There is currently no cure for fatal familial insomnia or treatment that can slow the disease progression. Management is based on alleviating symptoms and making affected people as comfortable as possible. A number of potential therapies are under current development, some ... | Fatal familial insomnia |
What is (are) Oculocutaneous albinism ? | Oculocutaneous albinism is a group of conditions that affect the coloring of the hair and eyes. Individuals affected by oculocutaneous albinism have very light skin and light-colored irises; they may also have vision problems such as decreased sharpness of vision, rapid eye movements (nystagmus), crossed eyes (strabis... | Oculocutaneous albinism |
What are the symptoms of Oculocutaneous albinism ? | What are the signs and symptoms of Oculocutaneous albinism? The Human Phenotype Ontology provides the following list of signs and symptoms for Oculocutaneous albinism. 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 Medic... | Oculocutaneous albinism |
What are the treatments for Oculocutaneous albinism ? | What treatments are available for oculocutaneous albinism? Individuals with oculocutaneous albinism should have annual skin examinations to check for skin damage or skin cancer and annual eye examination to check vision. Affected individuals should cover their skin from sun exposure by using sunscreen and wearing prot... | Oculocutaneous albinism |
What are the symptoms of Retinal degeneration with nanophthalmos, cystic macular degeneration, and angle closure glaucoma ? | What are the signs and symptoms of Retinal degeneration with nanophthalmos, cystic macular degeneration, and angle closure glaucoma? The Human Phenotype Ontology provides the following list of signs and symptoms for Retinal degeneration with nanophthalmos, cystic macular degeneration, and angle closure glaucoma. If the... | Retinal degeneration with nanophthalmos, cystic macular degeneration, and angle closure glaucoma |
What is (are) Northern epilepsy ? | Northern epilepsy is a rare condition that affects the nervous system. Signs and symptoms of the condition generally develop between ages 5 and 10 years and may include recurrent seizures, mild intellectual disability, and motor abnormalities (i.e. problems with coordination and balance). Some affected people may also ... | Northern epilepsy |
What are the symptoms of Northern epilepsy ? | What are the signs and symptoms of Northern epilepsy? The Human Phenotype Ontology provides the following list of signs and symptoms for Northern epilepsy. 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 Dictionar... | Northern epilepsy |
What is (are) Erythropoietic protoporphyria ? | Erythropoietic protoporphyria is a type of porphyria. Porphyrias are caused by an abnormality in the heme production process. Heme is essential in enabling our blood cells to carry oxygen and in breaking down chemical compounds in the liver. Erythropoietic protoporphyria is caused by impaired activity of ferrocheletase... | Erythropoietic protoporphyria |
What are the symptoms of Erythropoietic protoporphyria ? | What are the signs and symptoms of Erythropoietic protoporphyria? The Human Phenotype Ontology provides the following list of signs and symptoms for Erythropoietic protoporphyria. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the Medli... | Erythropoietic protoporphyria |
What causes Erythropoietic protoporphyria ? | What is the genetic basis of erythropoietic protoporphyria? Erythropoietic protoporphyria is caused by mutations in the FECH gene. | Erythropoietic protoporphyria |
Is Erythropoietic protoporphyria inherited ? | How is erythropoietic protoporphyria (EPP) inherited? EPP is inherited in an autosomal recessive manner. In most cases, affected individuals have one severe (loss-of-function) mutation that is inherited from one parent, and another weak (low-expression) mutation that is inherited from the other parent. In a small numbe... | Erythropoietic protoporphyria |
What are the symptoms of Trigonobrachycephaly, bulbous bifid nose, micrognathia, and abnormalities of the hands and feet ? | What are the signs and symptoms of Trigonobrachycephaly, bulbous bifid nose, micrognathia, and abnormalities of the hands and feet? The Human Phenotype Ontology provides the following list of signs and symptoms for Trigonobrachycephaly, bulbous bifid nose, micrognathia, and abnormalities of the hands and feet. If the i... | Trigonobrachycephaly, bulbous bifid nose, micrognathia, and abnormalities of the hands and feet |
What are the symptoms of X-linked lissencephaly with abnormal genitalia ? | What are the signs and symptoms of X-linked lissencephaly with abnormal genitalia? The Human Phenotype Ontology provides the following list of signs and symptoms for X-linked lissencephaly with abnormal genitalia. If the information is available, the table below includes how often the symptom is seen in people with thi... | X-linked lissencephaly with abnormal genitalia |
What are the symptoms of Nijmegen breakage syndrome ? | What are the signs and symptoms of Nijmegen breakage syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Nijmegen breakage 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... | Nijmegen breakage syndrome |
What is (are) Benign multicystic peritoneal mesothelioma ? | Benign multicystic peritoneal mesothelioma (BMPM) is a very rare benign cystic tumor arising from the peritoneal mesothelium (lining of the abdominal wall). It commonly occurs in young to middle-aged women who have a prior history of abdominal surgery, endometriosis, or pelvic inflammatory disease. The first symptoms u... | Benign multicystic peritoneal mesothelioma |
What are the treatments for Benign multicystic peritoneal mesothelioma ? | How might benign multicystic peritoneal mesothelioma be treated? Surgery to remove the cystic lesions is the only effective treatment for BMPM. Aggressive surgical approaches are often recommended. Hormonal therapy has also been attempted in individual cases with variable degrees of success. Most affected individuals d... | Benign multicystic peritoneal mesothelioma |
What is (are) Microcephalic osteodysplastic primordial dwarfism type 2 ? | Microcephalic osteodysplastic primordial dwarfism type 2 (MOPD2) is a condition characterized by short stature (dwarfism), skeletal abnormalities and an unusually small head size (microcephaly). Other signs and symptoms of MOPD2 may include hip dysplasia; thinning of the bones in the arms and legs; scoliosis; shortened... | Microcephalic osteodysplastic primordial dwarfism type 2 |
What are the symptoms of Microcephalic osteodysplastic primordial dwarfism type 2 ? | What are the signs and symptoms of Microcephalic osteodysplastic primordial dwarfism type 2? The Human Phenotype Ontology provides the following list of signs and symptoms for Microcephalic osteodysplastic primordial dwarfism type 2. If the information is available, the table below includes how often the symptom is see... | Microcephalic osteodysplastic primordial dwarfism type 2 |
What are the symptoms of Chromosome 6q25 microdeletion syndrome ? | What are the signs and symptoms of Chromosome 6q25 microdeletion syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Chromosome 6q25 microdeletion syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You... | Chromosome 6q25 microdeletion syndrome |
What is (are) Notalgia paresthetica ? | Notalgia paresthetica is a common chronic, localized itch, that usually affects patches of skin on the upper back. Occasionally be more widespread and involve other parts of the back, the shoulders and upper chest. People feel both the sensation of an itch and paresthesia (a sensation of tingling, pricking, or numbness... | Notalgia paresthetica |
What are the treatments for Notalgia paresthetica ? | How might notalgia paresthetica be treated? While this condition may be difficult to treat, typical neuralgia therapies are often employed with moderate success. Effective measures may include: Cooling lotions as required (camphor and menthol) Capsaicin cream - this depletes nerve endings of their chemical transmitter... | Notalgia paresthetica |
What are the symptoms of Preaxial polydactyly type 4 ? | What are the signs and symptoms of Preaxial polydactyly type 4? The Human Phenotype Ontology provides the following list of signs and symptoms for Preaxial polydactyly type 4. 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... | Preaxial polydactyly type 4 |
What are the symptoms of Imperforate oropharynx-costo vetebral anomalies ? | What are the signs and symptoms of Imperforate oropharynx-costo vetebral anomalies? The Human Phenotype Ontology provides the following list of signs and symptoms for Imperforate oropharynx-costo vetebral anomalies. If the information is available, the table below includes how often the symptom is seen in people with t... | Imperforate oropharynx-costo vetebral anomalies |
What are the symptoms of WT limb blood syndrome ? | What are the signs and symptoms of WT limb blood syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for WT limb blood 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... | WT limb blood syndrome |
What are the symptoms of Mousa Al din Al Nassar syndrome ? | What are the signs and symptoms of Mousa Al din Al Nassar syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Mousa Al din Al Nassar 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 M... | Mousa Al din Al Nassar syndrome |
What is (are) Enthesitis-related juvenile idiopathic arthritis ? | Enthesitis-related juvenile idiopathic arthritis is a subtype of juvenile idiopathic arthritis that is characterized by both arthritis and inflammation of an enthesitis site (the point at which a ligament, tendon, or joint capsule attaches to the bone). Signs and symptoms generally develop in late childhood or early ad... | Enthesitis-related juvenile idiopathic arthritis |
What are the symptoms of Enthesitis-related juvenile idiopathic arthritis ? | What are the signs and symptoms of Enthesitis-related juvenile idiopathic arthritis? The Human Phenotype Ontology provides the following list of signs and symptoms for Enthesitis-related juvenile idiopathic arthritis. If the information is available, the table below includes how often the symptom is seen in people with... | Enthesitis-related juvenile idiopathic arthritis |
What is (are) Pyruvate kinase deficiency ? | Pyruvate kinase deficiency is a genetic blood disorder characterized by low levels of an enzyme called pyruvate kinase, which is used by red blood cells. Without pyruvate kinase, red blood cells break down too easily, resulting in low levels of these cells (hemolytic anemia). The signs and symptoms of the disease may v... | Pyruvate kinase deficiency |
What are the symptoms of Pyruvate kinase deficiency ? | What are the signs and symptoms of Pyruvate kinase deficiency? The signs and symptoms of pyruvate kinase deficiency may vary greatly from person to person, but usually include the breakdown of red blood cells resulting in hemolytic anemia, a yellowing of the whites of the eyes (icterus), fatigue, lethargy, recurrent ga... | Pyruvate kinase deficiency |
What causes Pyruvate kinase deficiency ? | What causes pyruvate kinase deficiency? In most cases, pyruvate kinase deficiency is caused by mutations in the PKLR gene. More than 100 different mutation in the PKLR gene have been detected. Medical conditions, such as acute leukemia, preleukemia, and refractory sideroblastic anemia, as well as complications from che... | Pyruvate kinase deficiency |
Is Pyruvate kinase deficiency inherited ? | How is pyruvate kinase deficiency inherited? Pyruvate kinase deficiency is inherited in an autosomal recessive fashion, which means that a child must inherit a gene with a disease-causing mutation from both parents to develop the disorder. The gene that causes pyruvate kinase deficiency is called the PKLR gene that is ... | Pyruvate kinase deficiency |
How to diagnose Pyruvate kinase deficiency ? | Is genetic testing available for pyruvate kinase deficiency? Yes. GeneTests lists laboratories offering clinical genetic testing for this condition. Clinical genetic tests are ordered to help diagnose an affected person or other family members and to aid in decisions regarding medical care or reproductive issues. We re... | Pyruvate kinase deficiency |
What are the treatments for Pyruvate kinase deficiency ? | How might pyruvate kinase deficiency be treated? Mild cases require no treatment. People with severe anemia may need blood transfusions. In newborns with dangerous levels of jaundice, a health care provider may recommend an exchange transfusion. Surgical removal of the spleen (splenectomy) may also be necessary to hel... | Pyruvate kinase deficiency |
What are the symptoms of Charcot-Marie-Tooth disease type 1D ? | What are the signs and symptoms of Charcot-Marie-Tooth disease type 1D? The Human Phenotype Ontology provides the following list of signs and symptoms for Charcot-Marie-Tooth disease type 1D. 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 1D |
What are the symptoms of Hyperlipoproteinemia type 4 ? | What are the signs and symptoms of Hyperlipoproteinemia type 4? The Human Phenotype Ontology provides the following list of signs and symptoms for Hyperlipoproteinemia type 4. 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... | Hyperlipoproteinemia type 4 |
What is (are) Localized scleroderma ? | Localized scleroderma is characterized by thickening of the skin from excessive collagen deposits. Collagen is a protein normally present in our skin that provides structural support. However, when too much collagen is made, the skin becomes stiff and hard. Localized types of scleroderma are those limited to the skin a... | Localized scleroderma |
What are the symptoms of Localized scleroderma ? | What are the signs and symptoms of Localized scleroderma? Signs and symptoms of morphea, include: Hardening of the skin. Thickening of the skin. Discoloration of the affected skin to look lighter or darker than the surrounding area. The first signs of the disease are reddish patches of skin that thicken into firm, ova... | Localized scleroderma |
What causes Localized scleroderma ? | What causes morphea? The exact cause of morphea is unknown. It is not infectious. It is not hereditary, though, similar problems may present in other family members. It's believed that a reaction of the immune system plays a role in the development of this rare condition. Experts have explored a possible connection bet... | Localized scleroderma |
What are the treatments for Localized scleroderma ? | How might morphea be treated? There is no cure for morphea. Treatment is aimed at controlling the signs and symptoms and slowing the spread of the disease. The precise treatment depends on the extent and severity of the condition. Some people with mild morphea may choose to defer treatment. For people with morphea invo... | Localized scleroderma |
What is (are) Infantile-onset ascending hereditary spastic paralysis ? | Infantile-onset ascending hereditary spastic paralysis is a motor neuron disease characterized by progressive weakness and stiffness of muscles in the arms, legs, and face. Initial symptoms usually occur within the first 2 years of life and include weakness of the legs, leg muscles that are abnormally tight and stiff, ... | Infantile-onset ascending hereditary spastic paralysis |
What are the symptoms of Infantile-onset ascending hereditary spastic paralysis ? | What are the signs and symptoms of Infantile-onset ascending hereditary spastic paralysis? The Human Phenotype Ontology provides the following list of signs and symptoms for Infantile-onset ascending hereditary spastic paralysis. If the information is available, the table below includes how often the symptom is seen in... | Infantile-onset ascending hereditary spastic paralysis |
What is (are) Prader-Willi syndrome ? | Prader-Willi syndrome (PWS) is a genetic condition that affects many parts of the body. Infants with PWS have severe hypotonia (low muscle tone), feeding difficulties, and slow growth. In later infancy or early childhood, affected children typically begin to eat excessively and become obese. Other signs and symptoms of... | Prader-Willi syndrome |
What are the symptoms of Prader-Willi syndrome ? | What are the signs and symptoms of Prader-Willi syndrome? In infancy, Prader-Willi syndrome (PWS) is characterized by weak muscle tone (hypotonia), feeding difficulties, poor growth, and delayed development. In later infancy or early childhood, affected children develop an extreme appetite, which leads to overeating an... | Prader-Willi syndrome |
What causes Prader-Willi syndrome ? | What causes Prader-Willi syndrome? Prader-Willi syndrome (PWS) is caused by the loss of active genes in a specific region of chromosome 15. People normally inherit one copy of chromosome 15 from each parent. Some genes on chromosome 15 are only active (or "expressed") on the copy that is inherited from a person's fathe... | Prader-Willi syndrome |
Is Prader-Willi syndrome inherited ? | Is Prader-Willi syndrome inherited? Most cases of Prader-Willi syndrome (PWS) are not inherited and are due to random events during the formation of egg or sperm cells, or in early fetal development. This is usually the case when PWS is caused by a deletion in the paternal chromosome 15, or by maternal uniparental diso... | Prader-Willi syndrome |
How to diagnose Prader-Willi syndrome ? | How is Prader-Willi syndrome diagnosed? There are clinical diagnostic criteria for Prader-Willi syndrome (PWS) that were developed in the past that continue to be useful. These criteria can be viewed on the National Institute of Health's NICHD Web site. However, the current mainstay of a diagnosis when PWS is suspected... | Prader-Willi syndrome |
What are the treatments for Prader-Willi syndrome ? | How might Prader-Willi syndrome be treated? A multidisciplinary team approach is ideal for the treatment of people with Prader-Willi syndrome (PWS). Early diagnosis, early multidisciplinary care, and growth hormone treatment have greatly improved the quality of life of many affected children. In general, management of ... | Prader-Willi syndrome |
What is (are) Methylcobalamin deficiency cbl G type ? | Methylcobalamin deficiency cbl G type is a rare condition that occurs when the body is unable to process certain amino acids (building blocks of protein) properly. In most cases, signs and symptoms develop during the first year of life; however, the age of onset can range from infancy to adulthood. Common features of t... | Methylcobalamin deficiency cbl G type |
What are the symptoms of Methylcobalamin deficiency cbl G type ? | What are the signs and symptoms of Methylcobalamin deficiency cbl G type? The Human Phenotype Ontology provides the following list of signs and symptoms for Methylcobalamin deficiency cbl G type. If the information is available, the table below includes how often the symptom is seen in people with this condition. You c... | Methylcobalamin deficiency cbl G type |
What is (are) Malignant peripheral nerve sheath tumor ? | A malignant peripheral nerve sheath tumor (MPNST) is a tumor that develops from nerve tissue. The first symptom of MPNST is a lump or mass that increases in size, sometimes causing pain or a tingling sensation. MPNST is considered an aggressive tumor because there is up to a 65% chance of the tumor regrowing after su... | Malignant peripheral nerve sheath tumor |
What are the symptoms of Glomerulopathy with fibronectin deposits 2 ? | What are the signs and symptoms of Glomerulopathy with fibronectin deposits 2? The Human Phenotype Ontology provides the following list of signs and symptoms for Glomerulopathy with fibronectin deposits 2. If the information is available, the table below includes how often the symptom is seen in people with this condit... | Glomerulopathy with fibronectin deposits 2 |
What are the symptoms of Diffuse cutaneous systemic sclerosis ? | What are the signs and symptoms of Diffuse cutaneous systemic sclerosis? The Human Phenotype Ontology provides the following list of signs and symptoms for Diffuse cutaneous systemic sclerosis. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can... | Diffuse cutaneous systemic sclerosis |
What are the symptoms of Ichthyosis bullosa of Siemens ? | What are the signs and symptoms of Ichthyosis bullosa of Siemens? The Human Phenotype Ontology provides the following list of signs and symptoms for Ichthyosis bullosa of Siemens. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the Medli... | Ichthyosis bullosa of Siemens |
What is (are) Stevens-Johnson syndrome ? | Stevens-Johnson Syndrome (SJS), also called erythema multiforme major, is a limited form of toxic epidermal necrolysis. This disorder affects the skin, mucous membranes and eyes. Stevens-Johnson syndrome occurs twice as often in men as women, and most cases appear in children and young adults under 30, although it can ... | Stevens-Johnson syndrome |
What are the symptoms of Stevens-Johnson syndrome ? | What are the signs and symptoms of Stevens-Johnson syndrome? Often, Stevens-Johnson syndrome begins with flu-like symptoms, followed by a painful red or purplish rash that spreads and blisters, eventually causing the top layer of the skin to die and shed. To be classified as Stevens-Johnson syndrome, the condition must... | Stevens-Johnson syndrome |
What causes Stevens-Johnson syndrome ? | What causes Stevens-Johnson syndrome? The exact cause of Stevens-Johnson syndrome is unknown in 25 to 30% of cases. In those cases in which the cause can be determined, it is believed to be related to an adverse allergic drug reaction. Almost any drug--but most particularly sulfa drugs--can cause Stevens-Johnson syndro... | Stevens-Johnson syndrome |
What are the treatments for Stevens-Johnson syndrome ? | How might Stevens-Johnson syndrome be treated? Stevens-Johnson syndrome may be difficult to treat.[2147] Patients should be admitted to an intensive care or burn unit as soon as the diagnosis is suspected.[2145][2147] Treatment of severe symptoms may include:[2147] Antibiotics to control any skin infections Corticoster... | Stevens-Johnson syndrome |
What are the symptoms of ITCH E3 ubiquitin ligase deficiency ? | What are the signs and symptoms of ITCH E3 ubiquitin ligase deficiency? The Human Phenotype Ontology provides the following list of signs and symptoms for ITCH E3 ubiquitin ligase deficiency. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can u... | ITCH E3 ubiquitin ligase deficiency |
What is (are) Denys-Drash syndrome ? | Denys-Drash syndrome is a condition that affects the kidneys and genitalia. Kidney disease typically begins in the first few months of life, often leading to kidney failure in childhood. In addition, up to 90 percent of people with this condition develop a rare form of kidney cancer known as Wilms tumor. Males with Den... | Denys-Drash syndrome |
What are the symptoms of Denys-Drash syndrome ? | What are the signs and symptoms of Denys-Drash syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Denys-Drash 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 Dic... | Denys-Drash syndrome |
What causes Denys-Drash syndrome ? | What causes Denys-Drash syndrome? Denys-Drash syndrome is caused by mutations in the WT1 gene. This gene provides instructions for making a protein (the WT1 protein) that regulates the activity of other genes by attaching (binding) to specific regions of DNA. The WT1 protein plays a role in the development of the kidne... | Denys-Drash syndrome |
Is Denys-Drash syndrome inherited ? | Is Denys-Drash syndrome inherited? Denys-Drash syndrome is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. Most cases of Denys-Drash syndrome result from new (de novo) mutations in the gene that occur during the formation of reproduc... | Denys-Drash syndrome |
What are the symptoms of Total Hypotrichosis, Mari type ? | What are the signs and symptoms of Total Hypotrichosis, Mari type? The Human Phenotype Ontology provides the following list of signs and symptoms for Total Hypotrichosis, Mari 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 Med... | Total Hypotrichosis, Mari type |
What are the symptoms of Ulna hypoplasia with mental retardation ? | What are the signs and symptoms of Ulna hypoplasia with mental retardation? The Human Phenotype Ontology provides the following list of signs and symptoms for Ulna hypoplasia with mental retardation. If the information is available, the table below includes how often the symptom is seen in people with this condition. Y... | Ulna hypoplasia with mental retardation |
What are the symptoms of Dermoids of cornea ? | What are the signs and symptoms of Dermoids of cornea? The Human Phenotype Ontology provides the following list of signs and symptoms for Dermoids of cornea. 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... | Dermoids of cornea |
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