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What is (are) Lymphocytic vasculitis ? | Lymphocytic vasculitis is one of several skin conditions which are collectively referred to as cutaneous vasculitis. In lymphocytic vasculitis, white blood cells (lymphocytes) cause damage to blood vessels in the skin. This condition is thought to be caused by a number of factors, but the exact cause of most cases is n... | |
What are the symptoms of Lymphocytic vasculitis ? | What are the signs and symptoms of Lymphocytic vasculitis? Lymphocytic vasculitis can cause a number of different symptoms. Hives, red or purplish discolored patches, a bump (nodule), or an open sore (ulcer) have all been described as symptoms of this condition. The size, location, and severity of symptoms varies wid... | |
What causes Lymphocytic vasculitis ? | What causes lymphocytic vasculitis? Lymphocytic vasculitis is thought to be caused by a number of different factors, such as infection, trauma, drug reaction, or an underlying condition such as arthritis. Because this condition is rare and not yet well understood, it is believed that a full list of possible causes has... | |
What is (are) Essential tremor ? | Essential tremor is the most common movement disorder. It is characterized by involuntary and rhythmic shaking (tremor), especially in the hands, without any other signs or symptoms. It is distinguished from tremor that results from other disorders or known causes, such as tremors seen with Parkinson disease or head t... | |
What are the symptoms of Essential tremor ? | What are the signs and symptoms of Essential tremor? The Human Phenotype Ontology provides the following list of signs and symptoms for Essential tremor. 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 ... | |
What causes Essential tremor ? | What causes essential tremor? The causes of essential tremor are unknown. Researchers are studying several areas (loci) on particular chromosomes that may be linked to essential tremor, but no specific genetic associations have been confirmed. Several genes, as well as environmental factors, are likely involved in an i... | |
Is Essential tremor inherited ? | Is essential tremor inherited? About half of all cases of essential tremor appear to occur because of a genetic mutation. This is referred to as familial tremor. In these cases, essential tremor appears to be passed through generations in families, but the inheritance pattern varies. In many affected families, the cond... | |
What are the treatments for Essential tremor ? | How might essential tremor be treated? Treatment for essential tremor may not be necessary unless the tremors interfere with daily activities or cause embarrassment. Although there is no definitive cure for essential tremor, medicines may help relieve symptoms. How well medicines work depend on the individual patient. ... | |
What are the symptoms of Spondylometaphyseal dysplasia corner fracture type ? | What are the signs and symptoms of Spondylometaphyseal dysplasia corner fracture type? The Human Phenotype Ontology provides the following list of signs and symptoms for Spondylometaphyseal dysplasia corner fracture type. If the information is available, the table below includes how often the symptom is seen in people ... | |
What is (are) Linear porokeratosis ? | Linear porokeratosis is a skin condition that most often begins in infancy or early childhood, but it can occur at any age. The main feature of this condition is the development of reddish brown, slightly raised markings on the skin arranged in lines or streaks on one side of the body. These markings are not usually ... | |
What are the treatments for Linear porokeratosis ? | How might linear porokeratosis be treated? Because linear porokeratosis is a rare condition, there is no established treatment protocol. Protection from sun exposure and regular visits to a doctor to check for skin cancer are encouraged as routine care. Treatment options depend on the size, location, and severity of ... | |
What are the symptoms of Hairy palms and soles ? | What are the signs and symptoms of Hairy palms and soles? The Human Phenotype Ontology provides the following list of signs and symptoms for Hairy palms and soles. 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 D... | |
What are the symptoms of Van Buchem disease type 2 ? | What are the signs and symptoms of Van Buchem disease type 2? The Human Phenotype Ontology provides the following list of signs and symptoms for Van Buchem disease type 2. 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... | |
What is (are) Stickler syndrome, type 2 ? | Stickler syndrome is a group of hereditary connective tissue disorders characterized by distinctive facial features, eye abnormalities, hearing loss, and joint problems. The features vary widely among affected people. Stickler syndrome type 1 may be divided into 2 subgroups: the membranous vitreous type and a predomina... | |
What are the symptoms of Stickler syndrome, type 2 ? | What are the signs and symptoms of Stickler syndrome, type 2? The Human Phenotype Ontology provides the following list of signs and symptoms for Stickler syndrome, type 2. 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... | |
What are the symptoms of Popliteal pterygium syndrome lethal type ? | What are the signs and symptoms of Popliteal pterygium syndrome lethal type? The Human Phenotype Ontology provides the following list of signs and symptoms for Popliteal pterygium syndrome lethal type. If the information is available, the table below includes how often the symptom is seen in people with this condition.... | |
What are the symptoms of Westphal disease ? | What are the signs and symptoms of Westphal disease? The Human Phenotype Ontology provides the following list of signs and symptoms for Westphal disease. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary ... | |
What are the symptoms of GTP cyclohydrolase I deficiency ? | What are the signs and symptoms of GTP cyclohydrolase I deficiency? The Human Phenotype Ontology provides the following list of signs and symptoms for GTP cyclohydrolase I 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 M... | |
What are the symptoms of Charcot-Marie-Tooth disease type 2G ? | What are the signs and symptoms of Charcot-Marie-Tooth disease type 2G? The Human Phenotype Ontology provides the following list of signs and symptoms for Charcot-Marie-Tooth disease type 2G. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can u... | |
What is (are) Juvenile temporal arteritis ? | Juvenile temporal arteritis is a rare form of vasculitis, a group of conditions that cause inflammation of the blood vessels. Unlike the classic form of temporal arteritis, this condition is generally diagnosed in late childhood or early adulthood and only affects the temporal arteries (located at the lower sides of th... | |
What is (are) CADASIL ? | CADASIL (Cerebral Autosomal Dominant Arteriopathy with Sub-cortical Infarcts and Leukoencephalopathy) is an inherited disease of the blood vessels that occurs when the thickening of blood vessel walls blocks the flow of blood to the brain. The disease primarily affects the small blood vessels in the white matter of the... | |
What are the symptoms of CADASIL ? | What are the signs and symptoms of CADASIL? Strokes are the main feature of CADASIL and often occur repeatedly. Strokes may lead to severe disability such as an inability to walk and urinary incontinence. The average age at onset for stroke-like episodes is 46 years. A decline in thinking ability (cognitive deficit) is... | |
What causes CADASIL ? | What causes CADASIL? CADASIL is caused by a mutation in the NOTCH3 gene. The NOTCH3 gene gives the body instructions to make the Notch3 receptor protein, needed for normal function and survival of vascular smooth muscle cells. Mutations in NOTCH3 cause the body to make an abnormal protein, thus impairing the function a... | |
Is CADASIL inherited ? | How is CADASIL inherited? CADASIL is inherited in an autosomal dominant manner. This means that having a mutation in only one copy of the responsible gene in each cell is enough to cause CADASIL. In most cases, an affected person inherits the mutated gene from an affected parent. In rare cases, CADASIL may result from ... | |
What are the treatments for CADASIL ? | How might CADASIL be treated? There is currently no treatment for CADASIL that is proven to be effective. While antiplatelet treatment is often used, it is also not proven to be useful. Migraine should be treated both symptomatically and prophylactically (with preventative methods), depending on the frequency of sympto... | |
What is (are) Miller syndrome ? | Miller syndrome is a rare condition that mainly affects the development of the face and limbs. Characteristic features include underdeveloped cheek bones, a very small lower jaw, cleft lip and/or palate, abnormalities of the eyes, absent fifth (pinky) fingers and toes, and abnormally formed bones in the forearms and lo... | |
What are the symptoms of Miller syndrome ? | What are the signs and symptoms of Miller syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Miller 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... | |
What is (are) Progressive myoclonic epilepsy ? | Progressive myoclonus epilepsy (PME) refers to a group of inherited conditions involving the central nervous system and representing more than a dozen different diseases. These diseases share certain features, including a worsening of symptoms over time and the presence of both muscle contractions (myoclonus) and seizu... | |
What are the symptoms of Progressive supranuclear palsy atypical ? | What are the signs and symptoms of Progressive supranuclear palsy atypical? The Human Phenotype Ontology provides the following list of signs and symptoms for Progressive supranuclear palsy atypical. If the information is available, the table below includes how often the symptom is seen in people with this condition. Y... | |
What are the symptoms of Dandy-Walker cyst with Renal-Hepatic-Pancreatic dysplasia ? | What are the signs and symptoms of Dandy-Walker cyst with Renal-Hepatic-Pancreatic dysplasia? The Human Phenotype Ontology provides the following list of signs and symptoms for Dandy-Walker cyst with Renal-Hepatic-Pancreatic dysplasia. If the information is available, the table below includes how often the symptom is s... | |
What are the symptoms of Genu valgum, st Helena familial ? | What are the signs and symptoms of Genu valgum, st Helena familial? The Human Phenotype Ontology provides the following list of signs and symptoms for Genu valgum, st Helena familial. 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... | |
What are the symptoms of Groenouw type I corneal dystrophy ? | What are the signs and symptoms of Groenouw type I corneal dystrophy? The Human Phenotype Ontology provides the following list of signs and symptoms for Groenouw type I corneal dystrophy. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use t... | |
What are the symptoms of Male pseudohermaphroditism due to defective LH molecule ? | What are the signs and symptoms of Male pseudohermaphroditism due to defective LH molecule? The Human Phenotype Ontology provides the following list of signs and symptoms for Male pseudohermaphroditism due to defective LH molecule. If the information is available, the table below includes how often the symptom is seen ... | |
What are the symptoms of Hydrocephalus, costovertebral dysplasia, and Sprengel anomaly ? | What are the signs and symptoms of Hydrocephalus, costovertebral dysplasia, and Sprengel anomaly? The Human Phenotype Ontology provides the following list of signs and symptoms for Hydrocephalus, costovertebral dysplasia, and Sprengel anomaly. If the information is available, the table below includes how often the symp... | |
What are the symptoms of X-linked lymphoproliferative syndrome 1 ? | What are the signs and symptoms of X-linked lymphoproliferative syndrome 1? The Human Phenotype Ontology provides the following list of signs and symptoms for X-linked lymphoproliferative syndrome 1. If the information is available, the table below includes how often the symptom is seen in people with this condition. Y... | |
What are the symptoms of De Sanctis-Cacchione syndrome ? | What are the signs and symptoms of De Sanctis-Cacchione syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for De Sanctis-Cacchione 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 Medli... | |
What is (are) Trisomy 17 mosaicism ? | Trisomy 17 mosaicism is a chromosomal abnormality in which there are three copies of chromosome 17 in some cells of the body, rather than the usual two copies. Trisomy 17 mosaicism is one of the rarest trisomies in humans. It is often incorrectly called trisomy 17 (also referred to as full trisomy 17), which is when th... | |
What causes Trisomy 17 mosaicism ? | What causes trisomy 17 mosaicism? Trisomy 17 mosaicism can arise due to errors in cell division that occur after conception. For example, at the time of conception, the fetus may actually have trisomy 17 in all of its cells; however, during cell division, some of the cells lose the extra chromosome 17. Alternatively, t... | |
What is (are) Congenital deafness with vitiligo and achalasia ? | Congenital deafness with vitiligo and achalasia is a syndrome characterized by deafness present from birth (congenital), associated with short stature, vitiligo, muscle wasting and achalasia (swallowing difficulties). The condition was described in a brother and sister born to first cousin parents. It is believed to be... | |
What are the symptoms of Congenital deafness with vitiligo and achalasia ? | What are the signs and symptoms of Congenital deafness with vitiligo and achalasia? The Human Phenotype Ontology provides the following list of signs and symptoms for Congenital deafness with vitiligo and achalasia. If the information is available, the table below includes how often the symptom is seen in people with t... | |
What are the symptoms of Ectodermal dysplasia adrenal cyst ? | What are the signs and symptoms of Ectodermal dysplasia adrenal cyst? The Human Phenotype Ontology provides the following list of signs and symptoms for Ectodermal dysplasia adrenal cyst. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use t... | |
What are the symptoms of Progressive external ophthalmoplegia, autosomal recessive 1 ? | What are the signs and symptoms of Progressive external ophthalmoplegia, autosomal recessive 1 ? The Human Phenotype Ontology provides the following list of signs and symptoms for Progressive external ophthalmoplegia, autosomal recessive 1 . If the information is available, the table below includes how often the sympto... | |
What is (are) Idiopathic neutropenia ? | Idiopathic neutropenia is an acquired form of severe chronic neutropenia whose cause is unknown. Neutropenia is a blood condition that causes a reduced number or complete absence of neutrophils, a type of white blood cell that is responsible for much of the body's protection against infection. Symptoms include fever, m... | |
What are the symptoms of Idiopathic neutropenia ? | What are the signs and symptoms of Idiopathic neutropenia? The Human Phenotype Ontology provides the following list of signs and symptoms for Idiopathic neutropenia. 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... | |
What is (are) GM1 gangliosidosis type 1 ? | GM1 gangliosidosis is an inherited lysosomal storage disorder that progressively destroys nerve cells (neurons) in the brain and spinal cord. The condition may be classified into three major types based on the general age that signs and symptoms first appear: classic infantile (type 1); juvenile (type 2); and adult ons... | |
What are the symptoms of GM1 gangliosidosis type 1 ? | What are the signs and symptoms of GM1 gangliosidosis type 1? The Human Phenotype Ontology provides the following list of signs and symptoms for GM1 gangliosidosis type 1. 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... | |
What are the symptoms of Amelogenesis imperfecta, hypoplastic/hypomaturation, X-linked 2 ? | What are the signs and symptoms of Amelogenesis imperfecta, hypoplastic/hypomaturation, X-linked 2? The Human Phenotype Ontology provides the following list of signs and symptoms for Amelogenesis imperfecta, hypoplastic/hypomaturation, X-linked 2. If the information is available, the table below includes how often the ... | |
What is (are) Mulibrey Nanism ? | Mulibrey nanism is a rare genetic disorder characterized by profound growth delays and distinctive abnormalities of the muscles, liver, brain, and eyes. The acronym MULIBREY stands for (MU)scle, (LI)ver, (BR)ain, and (EY)e; nanism is another word for dwarfism. Signs and symptoms of the disorder may include constrictive... | |
What are the symptoms of Mulibrey Nanism ? | What are the signs and symptoms of Mulibrey Nanism? Mulibrey nanism (MN) is characterized by progressive growth failure that begins prenatally (before birth). Hypotonia (poor muscle tone) is common. Newborns often have characteristic abnormalities of the head and face, including a triangularly shaped face. Yellow disco... | |
How to diagnose Mulibrey Nanism ? | Is genetic testing available for mulibrey nanism? Testing for the TRIM37 gene is available for carrier testing, confirming the diagnosis, and prenatal diagnosis. GeneTests lists the names of laboratories that are performing genetic testing for mulibrey nanism. To view the contact information for the clinical laboratori... | |
What is (are) Mucopolysaccharidosis type I ? | Mucopolysaccharidosis I (MPS I) is a condition that affects many parts of the body. It is a progressively debilitating disorder; however, the rate of progression varies among affected individuals. MPS I is caused by mutations in the IDUA gene. These mutations lead to reduced levels or the complete lack of the IDUA enzy... | |
What are the symptoms of Mucopolysaccharidosis type I ? | What are the signs and symptoms of Mucopolysaccharidosis type I? The signs and symptoms of MPS I are not present at birth, but they begin to appear during childhood. People with severe MPS I develop the features of this condition earlier than those with attenuated MPS I. The following list includes the most common sign... | |
What causes Mucopolysaccharidosis type I ? | What causes mucopolysaccharidosis I (MPS I)? Mutations in the IDUA gene cause MPS I. The IDUA gene provides instructions for producing an enzyme that is involved in the breakdown of large sugar molecules called glycosaminoglycans (GAGs). Mutations in the IDUA gene reduce or completely eliminate the function of the IDUA... | |
Is Mucopolysaccharidosis type I inherited ? | How is mucopolysaccharidosis I (MPS I) inherited? MPS I is inherited from both parents in an autosomal recessive pattern. | |
What are the treatments for Mucopolysaccharidosis type I ? | What treatment is available for mucopolysaccharidosis I (MPS I)? The two main treatments for MPS I are enzyme replacement therapy (ERT) and bone marrow transplant. Both of these treatments work by replacing the missing IDUA enzyme. A drug called laronidase or Aldurazyme is the enzyme replacement therapy for MPS I. Trea... | |
What is (are) Bilateral frontoparietal polymicrogyria ? | Bilateral frontoparietal polymicrogyria (BFPP) is a rare neurological disorder that affects the cerebral cortex (the outer surface of the brain). BFPP specifically affects the frontal and parietal lobes on both sides of the brain (bilateral). Signs and symptoms typically include moderate to severe intellectual disabili... | |
What are the symptoms of Bilateral frontoparietal polymicrogyria ? | What are the signs and symptoms of Bilateral frontoparietal polymicrogyria? The signs and symptoms of bilateral frontoparietal polymicrogyria vary but may include: Moderate to severe intellectual disability Developmental delay Seizures Dysconjugate gaze (eyes that are not aligned) Ataxia Strabismus Increased muscle ton... | |
What are the symptoms of Paragangliomas 4 ? | What are the signs and symptoms of Paragangliomas 4? The Human Phenotype Ontology provides the following list of signs and symptoms for Paragangliomas 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 MedlinePlus Medical Dictionary ... | |
What is (are) Primary orthostatic tremor ? | Primary orthostatic tremor is a movement disorder characterized by rhythmic muscle contractions that occur in the legs and trunk immediately after standing. It may be perceived more as an unsteadiness than an actual tremor. The tremor may disappear or improve when a person is sitting or walking. Over time, the tremors ... | |
What are the symptoms of Primary orthostatic tremor ? | What are the signs and symptoms of Primary orthostatic tremor? The Human Phenotype Ontology provides the following list of signs and symptoms for Primary orthostatic tremor. 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... | |
What is (are) Cholesteatoma ? | Cholesteatoma is a type of skin cyst located in the middle ear. It can be congenital (present from birth), but it more commonly occurs as a complication of chronic ear infection. The hallmark symptom is a painless discharge from the ear. Hearing loss, dizziness, and facial muscle paralysis are rare but can result from ... | |
What are the symptoms of Cholesteatoma ? | What symptoms are associated with cholesteatoma? Early symptoms may include drainage from the ear, sometimes with a foul odor. As the cholesteatoma cyst or sac enlarges, it can lead to a full feeling or pressure in the ear, hearing loss, dizziness and pain, numbness or muscle weakness on one side of the face. On examin... | |
What causes Cholesteatoma ? | What causes cholesteatoma? A cholesteatoma usually occurs because of poor eustachian tube function in conjunction with infection in the middle ear. Negative pressure within the middle ear pulls a part of the eardrum the wrong way, creating a sac or cyst that fills with old skin cells and other waste material. As the cy... | |
What are the treatments for Cholesteatoma ? | How might cholesteatoma be treated? An examination by an otolaryngologist - a doctor who specializes in head and neck conditions - can confirm the presence of a cholesteatoma. Initial treatment may consist of a careful cleaning of the ear, antibiotics, and eardrops. Therapy aims to stop drainage in the ear by controll... | |
What is (are) Valinemia ? | Valinemia is a very rare metabolic disorder characterized by abnormally high levels of the amino acid valine in the blood and urine. Infants with valinemia reportedly experience lack of appetite, vomiting, and failure to thrive. In some cases, the condition may be life-threatening. Low muscle tone (hypotonia), excessiv... | |
What are the symptoms of Valinemia ? | What are the signs and symptoms of Valinemia? Valinemia is thought to be extremely rare and has been described in only a few people. The condition is reportedly present from birth. Symptoms in the newborn period include lack of appetite, protein intolerance, metabolic acidosis, frequent vomiting, failure to thrive, and... | |
What are the treatments for Valinemia ? | How might valinemia be treated? Due to the rarity of valinemia, information about treatment in the medical literature is very limited. A diet low in valine introduced during early infancy is thought to improve symptoms of the condition and lower valine concentrations in the blood to normal levels. | |
What are the symptoms of Teebi Kaurah syndrome ? | What are the signs and symptoms of Teebi Kaurah syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Teebi Kaurah 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 D... | |
What is (are) Book syndrome ? | Book syndrome is a very rare type of ectodermal dysplasia. Signs and symptoms include premolar aplasia (when the premolars fail to develop); excessive sweating (hyperhidrosis); and premature graying of the hair. Other features that have been reported in only one person include a narrow palate (roof of the mouth); hypop... | |
What are the symptoms of Book syndrome ? | What are the signs and symptoms of Book syndrome? To our knowledge, Book syndrome has only been reported in one, large Swedish family (25 cases in 4 generations) and in one other isolated case. The signs and symptoms reported in the Swedish family included premolar aplasia (when the premolars fail to develop); excessiv... | |
Is Book syndrome inherited ? | How is Book syndrome inherited? To our knowledge, Book syndrome has only been reported in one, large Swedish family (25 cases in 4 generations) and in one other isolated case. In the Swedish family, the syndrome was inherited in an autosomal dominant manner. In autosomal dominant inheritance, having a mutation in only ... | |
How to diagnose Book syndrome ? | How is Book syndrome diagnosed? Due to the rarity of Book syndrome and scarcity of reports in the medical literature, we are unaware of specific information about diagnosing Book syndrome. In general, ectodermal dysplasias are diagnosed by the presence of specific symptoms affecting the hair, nails, sweat glands, and/o... | |
What is (are) Punctate palmoplantar keratoderma type I ? | Punctate palmoplantar keratoderma type I, also known as keratosis palmoplantaris papulosa (KPPP) or Brauer-Buschke-Fisher Syndrome is is a rare condition that affects the skin. It is a type of punctate palmoplantar keratoderma. Signs and symptoms begin in early adolescence or later and include hard, round bumps of thic... | |
What are the symptoms of Punctate palmoplantar keratoderma type I ? | What are the signs and symptoms of Punctate palmoplantar keratoderma type I? Signs and symptoms of punctate palmoplantar keratoderma type 1 tend to become evident between the ages of 10 to 30 years. Symptoms include multiple, tiny, hard rounded bumps of thickened skin on the palms of the hands and soles of the feet. Th... | |
What causes Punctate palmoplantar keratoderma type I ? | What causes palmoplantar keratoderma type 1? Punctate palmoplantar keratoderma type 1 is a condition that is usually inherited in an autosomal dominant manner. It has recently been shown to be caused by mutations in the AAGAB gene in several families. Although the exact function of the AAGAB gene is currently unknown, ... | |
Is Punctate palmoplantar keratoderma type I inherited ? | How is punctate palmoplantar keratoderma type I inherited? Punctate palmoplantar keratoderma type I is usually inherited in an autosomal dominant manner. Autosomal dominant inheritance is when only one mutated copy of a disease-causing gene in each cell is sufficient for a person to be affected. An autosomal dominant c... | |
How to diagnose Punctate palmoplantar keratoderma type I ? | How is punctate palmoplantar keratoderma type I diagnosed? Features that support the diagnosis of punctate palmoplantar keratoderma type I include a positive family history (i.e., other affected family members), the presence of multiple tiny hard rounded bumps of thickened skin on the hands and feet, and certain cell h... | |
What are the treatments for Punctate palmoplantar keratoderma type I ? | How might punctate palmoplantar keratoderma type 1 be treated? Treatment options for this condition generally include topical salicylic acid, mechanical debridement, excision, and systemic retinoids. These therapies can lead to a temporary decrease in skin thickness and softening of the skin. Unfortunately, in many cas... | |
What are the symptoms of Small cell carcinoma of the bladder ? | What are the signs and symptoms of Small cell carcinoma of the bladder? The Human Phenotype Ontology provides the following list of signs and symptoms for Small cell carcinoma of the bladder. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can u... | |
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... | |
What is (are) Familial Mediterranean fever ? | Familial Mediterranean fever (FMF) is an inherited condition characterized by episodes of painful inflammation of the abdominal lining (peritonitis), lining surrounding the lungs (pleurisy), and joints (arthralgia and occasionally arthritis). These episodes are often accompanied by fever and sometimes a characteristic... | |
What are the symptoms of Familial Mediterranean fever ? | What are the signs and symptoms of Familial Mediterranean fever? Familial Mediterranean fever (FMF) is characterized by relatively short, usually 1- to 3-day, episodes of fever accompanied by abdominal pain, chest pain, joint pain, pelvic pain, muscle aches, and/or a skin rash. The muscle pain is often confused with fi... | |
Is Familial Mediterranean fever inherited ? | How is familial Mediterranean fever (FMF) inherited? FMF is almost always inherited in an autosomal recessive manner. This means that to be affected, a person must have a mutation in both copies of the responsible gene in each cell. The parents of an affected person usually each carry one mutated copy of the gene and a... | |
How to diagnose Familial Mediterranean fever ? | How is familial Mediterranean fever (FMF) diagnosed? In making a diagnosis of FMF, doctors take all of these factors into account: Whether the person has the clinical symptoms common for the disease and whether the symptoms are recurrent. How he or she responds to colchicine treatment. Usually a positive family history... | |
What are the treatments for Familial Mediterranean fever ? | How might familial Mediterranean fever (FMF) be treated? Currently, there is no known cure for FMF. Physicians can only treat the symptoms of the disease. A common therapy for FMF is daily use of the drug colchicine, a medicine that reduces inflammation. Many people require colchicine for life. This therapy has been su... | |
What is (are) Lucey-Driscoll syndrome ? | Lucey-Driscoll syndrome, a form of transient familial hyperbilirubinemia, is a rare metabolic disorder that leads to very high levels of bilirubin in a newborn's blood. Babies with this disorder may be born with severe jaundice (yellow skin), yellow eyes and lethargy. It occurs when the body does not properly break dow... | |
What are the symptoms of Lucey-Driscoll syndrome ? | What are the signs and symptoms of Lucey-Driscoll syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Lucey-Driscoll 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 Medic... | |
What causes Lucey-Driscoll syndrome ? | What causes Lucey-Driscoll syndrome? Lucey-Driscoll syndrome is caused by high levels of a bilirubin "conjugating enzyme inhibitor which is a substance that limits the ability of bilirubin to bind to an enzyme. When bilirubin does not bind efficiently, it builds up in the bloodstream. This inhibitor is thought to occur... | |
What is (are) MECP2 duplication syndrome ? | MECP2 duplication syndrome is a genetic condition that occurs almost exclusively in males and is characterized by moderate to severe intellectual disability. Other signs and symptoms include infantile hypotonia; delayed motor milestones (i.e. sitting up, crawling); recurrent infections; poor or absent speech; seizures;... | |
What are the symptoms of MECP2 duplication syndrome ? | What are the signs and symptoms of MECP2 duplication syndrome? MECP2 duplication syndrome is a condition that occurs almost exclusively in males and is characterized by moderate to severe intellectual disability. Infants affected by this condition are generally diagnosed with severe hypotonia within the first few weeks... | |
What causes MECP2 duplication syndrome ? | What causes MECP2 duplication syndrome? MECP2 duplication syndrome occurs when there is an extra copy (duplication) of the MECP2 gene in each cell. This is generally caused by a duplication of genetic material located on the long (q) arm of the X chromosome. The size of the duplication can vary; however, this does not ... | |
Is MECP2 duplication syndrome inherited ? | Is MECP2 duplication syndrome inherited? MECP2 duplication syndrome is inherited in an X-linked manner. A condition is considered X-linked if the genetic change that causes the condition is located on the X chromosome, one of the two sex chromosomes (the Y chromosome is the other sex chromosome). In males (who have onl... | |
How to diagnose MECP2 duplication syndrome ? | How is MECP2 duplication syndrome diagnosed? A diagnosis of MECP2 duplication syndrome is often suspected based on the presence of characteristic signs and symptoms. Genetic testing can then be ordered to confirm the diagnosis. | |
What are the treatments for MECP2 duplication syndrome ? | How might MECP2 duplication syndrome be treated? Because MECP2 duplication syndrome 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. For ex... | |
What is (are) Beta-thalassemia ? | Beta-thalassemia is a blood disorder that reduces the body's production of hemoglobin. Low levels of hemoglobin lead to a shortage of mature red blood cells and a lack of oxygen in the body. Affected people have anemia, which can cause paleness, weakness, fatigue, and more serious complications. Severe beta-thalassemia... | |
What are the symptoms of Beta-thalassemia ? | What are the signs and symptoms of Beta-thalassemia? The Human Phenotype Ontology provides the following list of signs and symptoms for Beta-thalassemia. 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 ... | |
Is Beta-thalassemia inherited ? | How is beta-thalassemia inherited? Beta-thalassemia major and beta-thalassemia intermedia are usually inherited in an autosomal recessive manner, which means both copies of the HBB gene in each cell have mutations. The parents of a person with an autosomal recessive condition each carry one copy of the mutated gene and... | |
What is (are) Sneddon syndrome ? | Sneddon syndrome is a progressive condition characterized by livedo reticularis (bluish net-like patterns of discoloration on the skin) and neurological abnormalities. Symptoms may include headache, dizziness, high blood pressure, heart disease, mini-strokes and/or stroke. Reduced blood flow to the brain may cause lesi... | |
What are the symptoms of Sneddon syndrome ? | What are the signs and symptoms of Sneddon syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Sneddon 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 ... | |
What causes Sneddon syndrome ? | What causes Sneddon syndrome? The cause of Sneddon syndrome is not well understood. It is possible that the syndrome has more than one cause (or way in which it may develop in a person). Some people develop Sneddon syndrome in association with other medical conditions such as obliterating vasculitis and antiphospholipi... |
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