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symptoms | What are the symptoms of Gupta Patton syndrome ? | What are the signs and symptoms of Gupta Patton syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Gupta Patton 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... |
outlook | What is the outlook for Parkinson's Disease ? | PD is both chronic, meaning it persists over a long period of time, and progressive, meaning its symptoms grow worse over time. Although some people become severely disabled, others experience only minor motor disruptions. Tremor is the major symptom for some individuals, while for others tremor is only a minor complai... |
frequency | How many people are affected by familial cold autoinflammatory syndrome ? | Familial cold autoinflammatory syndrome is a very rare condition, believed to have a prevalence of less than 1 per million people. |
treatment | What are the treatments for nonsyndromic hearing loss ? | These resources address the diagnosis or management of nonsyndromic hearing loss: - Baby's First Test: Hearing Loss - Gene Review: Gene Review: Deafness and Hereditary Hearing Loss Overview - Genetic Testing Registry: Deafness, X-linked - Genetic Testing Registry: Hereditary hearing loss and deafness - Genetic Tes... |
frequency | How many people are affected by hypomyelination and congenital cataract ? | The prevalence of hypomyelination and congenital cataract is unknown. |
information | What is (are) Monogenic Forms of Diabetes: Neonatal Diabetes Mellitus and Maturity-onset Diabetes of the Young ? | Testing for monogenic diabetes involves providing a blood sample from which DNA is isolated. The DNA is analyzed for changes in the genes that cause monogenic diabetes. Abnormal results can determine the gene responsible for diabetes in a particular individual or show whether someone is likely to develop a monogenic fo... |
susceptibility | Who is at risk for Adult Acute Lymphoblastic Leukemia? ? | Previous chemotherapy and exposure to radiation may increase the risk of developing ALL. Anything that increases your risk of getting a disease is called a risk factor. Having a risk factor does not mean that you will get cancer; not having risk factors doesnt mean that you will not get cancer. Talk with your doctor if... |
causes | What causes Holt-Oram syndrome ? | What causes Holt-Oram syndrome? Holt-Oram syndrome is caused by changes (mutations) in the TBX5 gene. This gene gives the body instructions for making a protein involved in the development of the heart and upper limbs before birth. In particular, this gene seems important for dividing the developing heart into four cha... |
exams and tests | How to diagnose Imerslund-Grasbeck syndrome ? | How is Imerslund-Grasbeck syndrome diagnosed? The diagnosis of Imerslund-Grasbeck syndrome (IGS) is made after a series of tests are performed. Cobalamin deficiency is typically detected first, followed by showing that cobalamin is poorly absorbed (the main cause of cobalamin deficiency). Other known causes of vitamin ... |
information | What is (are) Opsoclonus Myoclonus ? | Opsoclonus myoclonus is a rare neurological disorder characterized by an unsteady, trembling gait, myoclonus (brief, shock-like muscle spasms), and opsoclonus (irregular, rapid eye movements). Other symptoms may include difficulty speaking, poorly articulated speech, or an inability to speak. A decrease in muscle tone,... |
symptoms | What are the symptoms of Kawasaki Disease ? | Major Signs and Symptoms
One of the main symptoms during the early part of Kawasaki disease, called the acute phase, is fever. The fever lasts longer than 5 days. It remains high even after treatment with standard childhood fever medicines.
Other classic signs of the disease are:
... |
information | What is (are) Emphysema ? | Emphysema is a type of COPD involving damage to the air sacs (alveoli) in the lungs. As a result, your body does not get the oxygen it needs. Emphysema makes it hard to catch your breath. You may also have a chronic cough and have trouble breathing during exercise. The most common cause is cigarette smoking. If you ... |
symptoms | What are the symptoms of Mental retardation, macrocephaly, short stature and craniofacial dysmorphism ? | What are the signs and symptoms of Mental retardation, macrocephaly, short stature and craniofacial dysmorphism? The Human Phenotype Ontology provides the following list of signs and symptoms for Mental retardation, macrocephaly, short stature and craniofacial dysmorphism. If the information is available, the table bel... |
information | What is (are) Hermansky-Pudlak syndrome ? | Hermansky-Pudlak syndrome is a multisystem, genetic condition characterized by blood platelet dysfunction with prolonged bleeding, visual impairment, and abnormally light coloring of the skin, hair, and eyes (oculocutaneous albinism). Long-term sun exposure greatly increases the risk of skin damage and skin cancers. So... |
information | Do you have information about Vitamins | Summary : Vitamins are substances that your body needs to grow and develop normally. There are 13 vitamins your body needs. They are - Vitamin A - B vitamins (thiamine, riboflavin, niacin, pantothenic acid, biotin, vitamin B-6, vitamin B-12 and folate) - Vitamin C - Vitamin D - Vitamin E - Vitamin ... |
information | What is (are) Proteus-like syndrome ? | Proteus-like syndrome describes people who do not meet the diagnostic criteria for Proteus syndrome but who share many of the characteristic signs and symptoms associated with the condition. Affected people may experience some of the following features: overgrowth of the bones, skin, and other tissues; hamartomas; abno... |
treatment | What are the treatments for cryptogenic cirrhosis ? | These resources address the diagnosis or management of cryptogenic cirrhosis: - Children's Hospital of Pittsburgh: Cirrhosis - Cleveland Clinic: Cirrhosis of the Liver - Genetic Testing Registry: Cirrhosis, cryptogenic - Genetic Testing Registry: Familial cirrhosis - MedlinePlus Encyclopedia: Cirrhosis These res... |
inheritance | Is warfarin resistance inherited ? | The polymorphisms associated with this condition are inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to result in warfarin resistance. However, different polymorphisms affect the activity of warfarin to varying degrees. Additionally, people who have more t... |
information | What is (are) Achondroplasia and severe combined immunodeficiency ? | Achondroplasia with severe combined immunodeficiency is an extremely rare type of SCID. The condition is characterized by the classic signs of SCID, including severe and recurrent infections, diarrhea, failure to thrive, and absence of T and B lymphocytes along with skeletal anomalies like short stature, bowing of the ... |
information | What is (are) PPM-X syndrome ? | PPM-X syndrome is a condition characterized by psychotic disorders (most commonly bipolar disorder), a pattern of movement abnormalities known as parkinsonism, and mild to severe intellectual disability. Other symptoms include increased muscle tone and exaggerated reflexes. Affected males may have enlarged testes (macr... |
symptoms | What are the symptoms of Osteodysplasia familial Anderson type ? | What are the signs and symptoms of Osteodysplasia familial Anderson type? The Human Phenotype Ontology provides the following list of signs and symptoms for Osteodysplasia familial Anderson type. If the information is available, the table below includes how often the symptom is seen in people with this condition. You c... |
inheritance | Is retinal arterial macroaneurysm with supravalvular pulmonic stenosis inherited ? | This condition is inherited in an autosomal recessive pattern, 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 the condition. |
treatment | What are the treatments for Myoepithelial carcinoma ? | How might myoepithelial carcinoma be treated? The treatment for metastatic myoepithelial carcinoma usually begins with surgery to remove the main tumor. Radiation therapy can be used to reduce the chance that the tumor could return in the same location. Recent studies have shown that neutron-based radiation therapy m... |
susceptibility | Who is at risk for Adult Hodgkin Lymphoma? ? | Age, gender, and Epstein-Barr infection can affect the risk of adult Hodgkin lymphoma. Anything that increases your risk of getting a disease is called a risk factor. Having a risk factor does not mean that you will get cancer; not having risk factors doesn't mean that you will not get cancer. Talk with your doctor if ... |
treatment | What are the treatments for National Hormone and Pituitary Program (NHPP): Information for People Treated with Pituitary Human Growth Hormone (Comprehensive Report) ? | Before scientists learned how to make synthetic hormones, many animal hormones, such as insulin, were used to treat human disorders. Growth hormone from animals did not work in humans. Human growth hormone (pituitary hGH) was therefore made from human pituitary glands by the National Hormone and Pituitary Program (NHPP... |
symptoms | What are the symptoms of Glomus tympanicum tumor ? | What are the signs and symptoms of Glomus tympanicum tumor? The Human Phenotype Ontology provides the following list of signs and symptoms for Glomus tympanicum tumor. 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... |
inheritance | Is Stargardt disease inherited ? | How is Stargardt disease inherited? Stargardt disease is most commonly 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. Affected people inherit one mutated copy of the gene from each parent, who is referred to ... |
frequency | How many people are affected by Winchester syndrome ? | Winchester syndrome is a rare condition whose prevalence is unknown. It has been reported in only a few individuals worldwide. |
information | What is (are) Myelomeningocele ? | Myelomeningocele is the most severe form of spina bifida. It happens when parts of the spinal cord and nerves come through the open part of the spine. It causes nerve damage and other disabilities. Seventy to ninety percent of children with this condition also have too much fluid on their brains (hydrocephalus). This h... |
information | What is (are) Impetigo ? | Impetigo is a skin infection caused by bacteria. It is usually caused by staphylococcal (staph) bacteria, but it can also be caused by streptococcal (strep) bacteria. It is most common in children between the ages of two and six. It usually starts when bacteria get into a break in the skin, such as a cut, scratch, or i... |
symptoms | What are the symptoms of Choroidal dystrophy central areolar ? | What are the signs and symptoms of Choroidal dystrophy central areolar? The Human Phenotype Ontology provides the following list of signs and symptoms for Choroidal dystrophy central areolar. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can u... |
information | What is (are) Neuronal ceroid lipofuscinosis 7 ? | Neuronal ceroid lipofuscinosis 7 (CLN7-NCL) is a rare condition that affects the nervous system. Signs and symptoms of the condition generally develop in early childhood (average age 5 years) and may include loss of muscle coordination (ataxia), seizures that do not respond to medications, muscle twitches (myoclonus), ... |
susceptibility | Who is at risk for Intraocular (Uveal) Melanoma? ? | Being older and having fair skin may increase the risk of intraocular melanoma. Anything that increases your risk of getting a disease is called a risk factor. Having a risk factor does not mean that you will get cancer; not having risk factors doesnt mean that you will not get cancer. Talk with your doctor if you thin... |
exams and tests | How to diagnose Parasites - Hookworm ? | The standard method for diagnosing the presence of hookworm is by identifying hookworm eggs in a stool sample using a microscope. Because eggs may be difficult to find in light infections, a concentration procedure is recommended. |
prevention | How to prevent Adrenal Insufficiency and Addison's Disease ? | The following steps can help a person prevent adrenal crisis:
- Ask a health care provider about possibly having a shortage of adrenal hormones, if always feeling tired, weak, or losing weight. - Learn how to increase the dose of corticosteroid for adrenal insufficiency when ill. Ask a health care pr... |
information | 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... |
symptoms | What are the symptoms of PHAVER syndrome ? | What are the signs and symptoms of PHAVER syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for PHAVER 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... |
frequency | How many people are affected by Krabbe disease ? | In the United States, Krabbe disease affects about 1 in 100,000 individuals. A higher incidence (6 cases per 1,000 people) has been reported in a few isolated communities in Israel. |
research | what research (or clinical trials) is being done for Gastrointestinal Carcinoid Tumors ? | New types of treatment are being tested in clinical trials.
This summary section describes treatments that are being studied in clinical trials. It may not mention every new treatment being studied. Information about clinical trials is available from the NCI website. Targeted therapy Target... |
inheritance | Is achondrogenesis inherited ? | Achondrogenesis type 1A and type 1B both have an autosomal recessive pattern of inheritance, which means both copies of the TRIP11 or SLC26A2 gene in each cell have mutations. Most often, the parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene but do not show signs and... |
information | What is (are) Pseudoangiomatous stromal hyperplasia ? | Pseudoangiomatous stromal hyperplasia (PASH) is a type of non-cancerous breast lesion. It typically affects women in the reproductive age group. The size of the lesion varies, but small microscopic PASH is much more common than larger masses. Microscopic PASH is often an incidental finding in breast biopsies done for o... |
symptoms | What are the symptoms of GOMBO syndrome ? | What are the signs and symptoms of GOMBO syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for GOMBO 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 l... |
information | What is (are) Creutzfeldt-Jakob Disease ? | Creutzfeldt-Jakob disease (CJD) is a rare, degenerative brain disorder. Symptoms usually start around age 60. Memory problems, behavior changes, vision problems, and poor muscle coordination progress quickly to dementia, coma, and death. Most patients die within a year. The three main categories of CJD are - ... |
genetic changes | What are the genetic changes related to Koolen-de Vries syndrome ? | Koolen-de Vries syndrome is caused by genetic changes that eliminate the function of one copy of the KANSL1 gene in each cell. Most affected individuals are missing a small amount of genetic material, including the KANSL1 gene, from one copy of chromosome 17. This type of genetic abnormality is called a microdeletion. ... |
information | What is (are) Meralgia Paresthetica ? | Meralgia paresthetica is a disorder characterized by tingling, numbness, and burning pain in the outer side of the thigh. The disorder is caused by compression of the lateral femoral cutaneous nerve, a sensory nerve to the skin, as it exits the pelvis. People with the disorder often notice a patch of skin that is sensi... |
symptoms | What are the symptoms of Tetralogy of Fallot ? | Cyanosis is an important sign of tetralogy of Fallot. Cyanosis is a bluish tint to the skin, lips, and fingernails. Low oxygen levels in the blood cause cyanosis.
Babies who have unrepaired tetralogy of Fallot sometimes have "tet spells." These spells happen in response to an activity like crying or ha... |
symptoms | What are the symptoms of Prekallikrein deficiency, congenital ? | What are the signs and symptoms of Prekallikrein deficiency, congenital? The Human Phenotype Ontology provides the following list of signs and symptoms for Prekallikrein deficiency, congenital. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can... |
symptoms | What are the symptoms of Severe achondroplasia with developmental delay and acanthosis nigricans ? | What are the signs and symptoms of Severe achondroplasia with developmental delay and acanthosis nigricans? The Human Phenotype Ontology provides the following list of signs and symptoms for Severe achondroplasia with developmental delay and acanthosis nigricans. If the information is available, the table below include... |
information | What is (are) Burns ? | A burn is damage to your body's tissues caused by heat, chemicals, electricity, sunlight or radiation. Scalds from hot liquids and steam, building fires and flammable liquids and gases are the most common causes of burns. Another kind is an inhalation injury, caused by breathing smoke. There are three types of burns... |
symptoms | What are the symptoms of Polycythemia Vera ? | Polycythemia vera (PV) develops slowly. The disease may not cause signs or symptoms for years.
When signs and symptoms are present, they're the result of the thick blood that occurs with PV. This thickness slows the flow of oxygen-rich blood to all parts of your body. Without enough oxygen, many parts ... |
symptoms | What are the symptoms of Cataract, autosomal recessive congenital 2 ? | What are the signs and symptoms of Cataract, autosomal recessive congenital 2? The Human Phenotype Ontology provides the following list of signs and symptoms for Cataract, autosomal recessive congenital 2. If the information is available, the table below includes how often the symptom is seen in people with this condit... |
outlook | What is the outlook for Gestational Trophoblastic Disease ? | Certain factors affect prognosis (chance of recovery) and treatment options. Gestational trophoblastic disease usually can be cured. Treatment and prognosis depend on the following: - The type of GTD. - Whether the tumor has spread to the uterus, lymph nodes, or distant parts of the body. - The number of ... |
information | What is (are) fish-eye disease ? | Fish-eye disease, also called partial LCAT deficiency, is a disorder that causes the clear front surface of the eyes (the corneas) to gradually become cloudy. The cloudiness, which generally first appears in adolescence or early adulthood, consists of small grayish dots of cholesterol (opacities) distributed across the... |
exams and tests | How to diagnose Ovarian Low Malignant Potential Tumors ? | Tests that examine the ovaries are used to detect (find), diagnose, and stage ovarian low malignant potential tumor. The following tests and procedures may be used: - Physical exam and history : An exam of the body to check general signs of health, including checking for signs of disease, such as lumps or any... |
symptoms | What are the symptoms of Ornithine transcarbamylase deficiency ? | What are the signs and symptoms of Ornithine transcarbamylase deficiency? Ornithine transcarbamylase (OTC) deficiency often becomes evident in the first few days of life. An infant with OTC deficiency may be lacking in energy (lethargic) or unwilling to eat, and have a poorly-controlled breathing rate or body temperatu... |
information | What is (are) Lupus ? | If you have lupus, your immune system attacks healthy cells and tissues by mistake. This can damage your joints, skin, blood vessels and organs. There are many kinds of lupus. The most common type, systemic lupus erythematosus, affects many parts of the body. Discoid lupus causes a rash that doesn't go away. Subacute c... |
information | What is (are) 9q22.3 microdeletion ? | 9q22.3 microdeletion is a chromosomal change in which a small piece of chromosome 9 is deleted in each cell. The deletion occurs on the long (q) arm of the chromosome in a region designated q22.3. This chromosomal change is associated with delayed development, intellectual disability, certain physical abnormalities, an... |
symptoms | What are the symptoms of Familial dilated cardiomyopathy ? | What are the signs and symptoms of Familial dilated cardiomyopathy? The Human Phenotype Ontology provides the following list of signs and symptoms for Familial dilated cardiomyopathy. 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... |
inheritance | Is cyclic vomiting syndrome inherited ? | In most cases of cyclic vomiting syndrome, affected people have no known history of the disorder in their family. However, many affected individuals have a family history of related conditions, such as migraines, irritable bowel syndrome, or depression, in their mothers and other maternal relatives. This family history... |
information | What is (are) Guillain-Barre syndrome ? | Guillain-Barr syndrome is a rare disorder in which the body's immune system attacks part of the peripheral nervous system. Symptoms include muscle weakness, numbness, and tingling sensations, which can increase in intensity until the muscles cannot be used at all. Usually Guillain-Barr syndrome occurs a few days or wee... |
treatment | What are the treatments for What I need to know about Hirschsprung Disease ? | Pull-through Procedure
HD is treated with surgery called a pull-through procedure. A surgeon removes the segment of the large intestine lacking nerve cells and connects the healthy segment to the anus. The pull-through procedure is usually done soon after diagnosis.
Ostomy surgery
... |
information | What is (are) Marfan Syndrome ? | Marfan syndrome is a disorder that affects connective tissue. Connective tissues are proteins that support skin, bones, blood vessels, and other organs. One of these proteins is fibrillin. A problem with the fibrillin gene causes Marfan syndrome. Marfan syndrome can be mild to severe, and the symptoms can vary. Peo... |
symptoms | What are the symptoms of Short rib-polydactyly syndrome type 4 ? | What are the signs and symptoms of Short rib-polydactyly syndrome type 4? The Human Phenotype Ontology provides the following list of signs and symptoms for Short rib-polydactyly syndrome type 4. If the information is available, the table below includes how often the symptom is seen in people with this condition. You c... |
treatment | What are the treatments for familial exudative vitreoretinopathy ? | These resources address the diagnosis or management of familial exudative vitreoretinopathy: - Gene Review: Gene Review: Familial Exudative Vitreoretinopathy, Autosomal Dominant - Gene Review: Gene Review: NDP-Related Retinopathies - Genetic Testing Registry: Exudative vitreoretinopathy 1 - Genetic Testing Registry... |
treatment | What are the treatments for Binswanger's disease ? | How is Binswanger's disease treated? The brain damage associated with Binswanger's disease is not reversible. Treatment is based on the signs and symptoms present in each person. For example, medications may be prescribed to treat depression, agitation, and other symptoms associated with the condition. Successful manag... |
treatment | What are the treatments for Transient Ischemic Attack ? | Because there is no way to tell whether symptoms are from a TIA or an acute stroke, patients should assume that all stroke-like symptoms signal an emergency and should not wait to see if they go away. A prompt evaluation (within 60 minutes) is necessary to identify the cause of the TIA and determine appropriate therapy... |
symptoms | What are the symptoms of Rabson-Mendenhall syndrome ? | What are the signs and symptoms of Rabson-Mendenhall syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Rabson-Mendenhall 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... |
information | What is (are) Joubert syndrome ? | Joubert syndrome is disorder of abnormal brain development that may affect many parts of the body. It is characterized by the absence or underdevelopment of the cerebellar vermis (a part of the brain that controls balance and coordination) and a malformed brain stem (connection between the brain and spinal cord). This ... |
symptoms | What are the symptoms of Mucopolysaccharidosis type IV ? | What are the signs and symptoms of Mucopolysaccharidosis type IV? The Human Phenotype Ontology provides the following list of signs and symptoms for Mucopolysaccharidosis type IV. 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... |
treatment | What are the treatments for Epithelial basement membrane corneal dystrophy ? | How might epithelial basement membrane corneal dystrophy be treated? Because most people do not develop noticeable signs or symptoms, treatment usually is not necessary. However, if treatment is needed, doctors will try to control the pain associated with the epithelial erosions. They may patch the eye to immobilize it... |
treatment | What are the treatments for cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy ? | These resources address the diagnosis or management of CADASIL: - Butler Hospital: Treatment and Management of CADASIL - Gene Review: Gene Review: CADASIL - Genetic Testing Registry: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy - MedlinePlus Encyclopedia: Multi-Infarct ... |
inheritance | Is hidradenitis suppurativa inherited ? | Hidradenitis suppurativa has been reported to run in families. Studies have found that 30 to 40 percent of affected individuals have at least one family member with the disorder. However, this finding may be an underestimate because affected individuals do not always tell their family members that they have the conditi... |
information | What is (are) Dumping Syndrome ? | Dumping syndrome occurs when food, especially sugar, moves too fast from the stomach to the duodenumthe first part of the small intestinein the upper gastrointestinal (GI) tract. This condition is also called rapid gastric emptying. Dumping syndrome has two forms, based on when symptoms occur:
- early ... |
genetic changes | What are the genetic changes related to leukocyte adhesion deficiency type 1 ? | Mutations in the ITGB2 gene cause leukocyte adhesion deficiency type 1. This gene provides instructions for making one part (the 2 subunit) of at least four different proteins known as 2 integrins. Integrins that contain the 2 subunit are found embedded in the membrane that surrounds white blood cells (leukocytes). The... |
exams and tests | How to diagnose Idiopathic Pulmonary Fibrosis ? | Idiopathic pulmonary fibrosis (IPF) causes the same kind of scarring and symptoms as some other lung diseases. This makes it hard to diagnose.
Seeking medical help as soon as you have symptoms is important. If possible, seek care from a pulmonologist. This is a doctor who specializes in diagnosing and ... |
symptoms | What are the symptoms of Acrokeratoelastoidosis of Costa ? | What are the signs and symptoms of Acrokeratoelastoidosis of Costa? The Human Phenotype Ontology provides the following list of signs and symptoms for Acrokeratoelastoidosis of Costa. 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... |
inheritance | Is PDGFRB-associated chronic eosinophilic leukemia inherited ? | PDGFRB-associated chronic eosinophilic leukemia is not inherited and occurs in people with no history of the condition in their families. Chromosomal rearrangements that lead to a PDGFRB fusion gene are somatic mutations, which are mutations acquired during a person's lifetime and present only in certain cells. The som... |
frequency | How many people are affected by capillary malformation-arteriovenous malformation syndrome ? | CM-AVM is thought to occur in at least 1 in 100,000 people of northern European origin. The prevalence of the condition in other populations is unknown. |
frequency | How many people are affected by Sheldon-Hall syndrome ? | The prevalence of Sheldon-Hall syndrome is unknown; however, it is thought to be the most common type of distal arthrogryposis. About 100 affected individuals have been described in the medical literature. |
exams and tests | How to diagnose Gastritis ? | A health care provider diagnoses gastritis based on the following:
- medical history - physical exam - upper GI endoscopy - other tests
Medical History
Taking a medical history may help the health care provider diagnose gastritis. He or she will ask the patient to p... |
information | What is (are) Myhre syndrome ? | Myhre syndrome is a condition with features affecting many systems and functions of the body. People with Myhre syndrome usually have delayed development of language and motor skills such as crawling and walking. Most have intellectual disability that ranges from mild to moderate. Some have behavioral issues such as f... |
research | what research (or clinical trials) is being done for Liver (Hepatocellular) Cancer ? | Cancer prevention clinical trials are used to study ways to prevent cancer.
Cancer prevention clinical trials are used to study ways to lower the risk of developing certain types of cancer. Some cancer prevention trials are conducted with healthy people who have not had cancer but who have an increa... |
genetic changes | What are the genetic changes related to abetalipoproteinemia ? | Mutations in the MTTP gene cause abetalipoproteinemia. The MTTP gene provides instructions for making a protein called microsomal triglyceride transfer protein, which is essential for creating beta-lipoproteins. These lipoproteins are necessary for the absorption of fats, cholesterol, and fat-soluble vitamins from the ... |
information | What is (are) retroperitoneal fibrosis ? | Retroperitoneal fibrosis is a disorder in which inflammation and extensive scar tissue (fibrosis) occur in the back of the abdominal cavity, behind (retro-) the membrane that surrounds the organs of the digestive system (the peritoneum). This area is known as the retroperitoneal space. Retroperitoneal fibrosis can occu... |
treatment | What are the treatments for Duchenne muscular dystrophy ? | How might Duchenne muscular dystrophy be treated? There is no known cure for Duchenne muscular dystrophy (DMD). Treatment is aimed at the control of symptoms to maximize the quality of life. Individuals with DMD often experience dilated cardiomyopathy (the heart becomes larger and weaker). This can be treated with medi... |
inheritance | Is Neurofibromatosis type 1 inherited ? | How is neurofibromatosis type 1 inherited? Neurofibromatosis type 1 (NF1) is inherited in an autosomal dominant manner. This means that a person only needs a change (mutation) in one copy of the responsible gene in each cell to have a genetic predisposition to the tumors associated with NF1. In approximately half of ca... |
outlook | What is the outlook for Pompe Disease ? | Without enzyme replacement therapy, the hearts of babies with infantile onset Pompe disease progressively thicken and enlarge. These babies die before the age of one year from either cardiorespiratory failure or respiratory infection. For individuals with late onset Pompe disease, the prognosis is dependent upon the ag... |
inheritance | Is Lupus inherited ? | Is lupus inherited? The Lupus Foundation of American has a page called Is lupus hereditary? that provides a good overview. They also have a Genetics page for all of their content tagged as related to genetics. Medscape Reference has an in-depth review of the genetics of lupus that was written for healthcare professiona... |
treatment | What are the treatments for Paget's Disease of Bone ? | Early Diagnosis is Important Although there is no cure for Paget's disease of bone, it is treatable. Treatment is most effective when the disease is diagnosed early, before it causes major changes in the affected bones. The goal of treatment is to relieve bone pain and prevent the disease from progressing. Medications ... |
treatment | What are the treatments for corticosteroid-binding globulin deficiency ? | These resources address the diagnosis or management of corticosteroid-binding globulin deficiency: - American Heart Association: Understanding Blood Pressure Readings - Genetic Testing Registry: Corticosteroid-binding globulin deficiency These resources from MedlinePlus offer information about the diagnosis and man... |
symptoms | What are the symptoms of Bangstad syndrome ? | What are the signs and symptoms of Bangstad syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Bangstad 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 Dictionar... |
treatment | What are the treatments for Lichen sclerosus ? | How might lichen sclerosus be treated? Strong topical steroid creams or ointments reportedly are very helpful for lichen sclerosus, especially when it affects the genital areas. However, the response to this treatment varies. While itching may be relieved within days, it can take weeks or months for the skin's appearan... |
treatment | What are the treatments for Thrombotic Thrombocytopenic Purpura ? | Thrombotic thrombocytopenic purpura (TTP) can be fatal or cause lasting damage, such as brain damage or a stroke, if it's not treated right away.
In most cases, TTP occurs suddenly and lasts for days or weeks, but it can go on for months. Relapses (flareups) can occur in up to 60 percent of people who ... |
information | What is (are) Diabetes ? | People with diabetes should - do aerobic activities, such as brisk walking, which use the bodys large muscles to make the heart beat faster. The large muscles are those of the upper and lower arms and legs and those that control head, shoulder, and hip movements. - do activities to strengthen muscles and bone, such a... |
frequency | How many people are affected by Nakajo-Nishimura syndrome ? | Nakajo-Nishimura syndrome appears to be rare and has been described only in the Japanese population. About 30 cases have been reported in the medical literature. |
exams and tests | How to diagnose Parasites - Loiasis ? | In people who have been bitten by the flies that carry Loa loa in areas where Loa loa is known to exist, the diagnosis can be made in the following ways:
- Identification of the adult worm by a microbiologist or pathologist after its removal from under the skin or eye
- Identification of an adult worm in the e... |
inheritance | Is progressive familial intrahepatic cholestasis inherited ? | This condition is inherited in an autosomal recessive pattern, 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 the condition. |
symptoms | What are the symptoms of Nonalcoholic Steatohepatitis ? | NASH is usually a silent disease with few or no symptoms. Patients generally feel well in the early stages and only begin to have symptomssuch as fatigue, weight loss, and weaknessonce the disease is more advanced or cirrhosis develops. The progression of NASH can take years, even decades. The process can stop and, in ... |
information | What is (are) Inclusion Body Myositis ? | Inclusion body myositis (IBM) is one of a group of muscle diseases known as the inflammatory myopathies, which are characterized by chronic, progressive muscle inflammation accompanied by muscle weakness. The onset of muscle weakness in IBM is generally gradual (over months or years) and affects both proximal (close to... |
frequency | How many people are affected by common variable immune deficiency ? | CVID is estimated to affect 1 in 25,000 to 1 in 50,000 people worldwide, although the prevalence can vary across different populations. |
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