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How to diagnose MTHFR gene mutation ? | Is genetic testing available to detect MTHFR gene mutations? Yes. Genetic testing is available for MTHFR gene mutations. This testing can be used in people with suspected homocystinuria or to determine the cause of elevated homocysteine levels in the blood. Genetic testing for C677T and A1286C may be indicated in a per... | |
What are the treatments for MTHFR gene mutation ? | How might a MTHFR gene mutation be treated? High homocysteine levels in the body may occur if the MTHFR enzyme is not functioning normally due to MTHFR mutations, such as C677T and A1298C. Currently there are no treatments to remove adverse risks associated with MTHFR gene mutations. However, elevated levels of homocys... | |
What is (are) Split hand foot malformation ? | Split hand foot malformation (SHFM) is a type of birth defect that consists of missing digits (fingers and/or toes), a deep cleft down the center of the hand or foot, and fusion of remaining digits. The severity of this condition varies widely among affected individuals. SHFM is sometimes called ectrodactyly; however, ... | |
What are the symptoms of Split hand foot malformation ? | What are the signs and symptoms of Split hand foot malformation? The Human Phenotype Ontology provides the following list of signs and symptoms for Split hand foot malformation. 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... | |
What causes Split hand foot malformation ? | What causes split hand foot malformation? Split hand foot malformation may occur as an isolated feature or it may be associated with a genetic syndrome. Researchers believe that a large number of mutations can cause split hand foot malformation. A few of which have been identified: FBXW4 and TP63. Most commonly the con... | |
What are the symptoms of Waardenburg syndrome type 3 ? | What are the signs and symptoms of Waardenburg syndrome type 3? The Human Phenotype Ontology provides the following list of signs and symptoms for Waardenburg syndrome type 3. 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... | |
What are the symptoms of His bundle tachycardia ? | What are the signs and symptoms of His bundle tachycardia? The Human Phenotype Ontology provides the following list of signs and symptoms for His bundle tachycardia. 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 are the symptoms of Anophthalmos with limb anomalies ? | What are the signs and symptoms of Anophthalmos with limb anomalies? The Human Phenotype Ontology provides the following list of signs and symptoms for Anophthalmos with limb anomalies. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the... | |
What is (are) Konigsmark Knox Hussels syndrome ? | Konigsmark Knox Hussels syndrome is an inherited condition that causes both hearing and vision loss. This condition is characterized by late-onset progressive sensorineural deafness and progressive optic atrophy, which results in mildly reduced visual acuity. Some affected individuals can develop ophthalmoplegia (paral... | |
What are the symptoms of Konigsmark Knox Hussels syndrome ? | What are the signs and symptoms of Konigsmark Knox Hussels syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Konigsmark Knox Hussels 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... | |
What causes Konigsmark Knox Hussels syndrome ? | What causes Konigsmark Knox Hussels syndrome? Konigsmark Knox Hussels syndrome is caused by a particular mutation in the OPA1 gene. In most cases, this condition is caused by a mutation that replaces the amino acid arginine with the amino acid histidine at position 445 in the OPA1 protein. This is written as Arg445His ... | |
How to diagnose Konigsmark Knox Hussels syndrome ? | Is genetic testing available for Konigsmark Knox Hussels syndrome? GeneTests lists the names of laboratories that are performing genetic testing for Konigsmark Knox Hussels syndrome. To view the contact information for the clinical laboratories conducting testing click here. Please note: Most of the laboratories liste... | |
What are the symptoms of Gastroschisis ? | What are the signs and symptoms of Gastroschisis? The Human Phenotype Ontology provides the following list of signs and symptoms for Gastroschisis. 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 loo... | |
What is (are) Congenital dyserythropoietic anemia type 2 ? | Congenital dyserythropoietic anemia type 2 (CDA II) is an inherited blood disorder characterized by mild to severe anemia. It is usually diagnosed in adolescence or early adulthood. Many affected individuals have yellowing of the skin and eyes (jaundice) and an enlarged liver and spleen (hepatosplenomegaly) and gallsto... | |
What are the symptoms of Congenital dyserythropoietic anemia type 2 ? | What are the signs and symptoms of Congenital dyserythropoietic anemia type 2? The signs and symptoms of CDA II include jaundice, gallstones and an enlarged liver and spleen. This condition also causes the body to absorb too much iron, which builds up and can damage tissues and organs. In particular, iron overload can ... | |
What are the treatments for Congenital dyserythropoietic anemia type 2 ? | How might congenital dyserythropoietic anemia (CDA) type 2 be treated? The goal of CDA type 2 treatment is to address and prevent complications from anemia and iron overload. Most people with CDA type 2 develop iron overload, for some this is as early as in their 20's. If a person with CDA type 2 has mild anemia, but ... | |
What are the symptoms of Marden Walker like syndrome ? | What are the signs and symptoms of Marden Walker like syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Marden Walker like syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePl... | |
What is (are) Leukoplakia ? | Leukoplakia is a condition in which thickened, white patches form on the tongue, gums, inside of the cheek, or sometimes on the outer female genitals. Although the sores can vary in appearance, they are usually white or gray; thick; and slightly raised with a hard surface. The condition is thought to be caused by irrit... | |
What are the symptoms of Leukoplakia ? | What are the early signs of cancer in vulvar leukoplakia? Early signs of cancer may not be apparent. The clinical appearance of leukoplakia does not generally correlate with its appearance when examined under a microscope. For example, the lesion may appear unchanged for a period of time but may actually show changes w... | |
What are the treatments for Leukoplakia ? | How might leukoplakia be treated? For most people, removing the source of irritation is important and often causes the lesion to disappear. For example, if tobacco use is thought to be the cause, stopping tobacco use usually clears the condition. Dental causes such as rough teeth or fillings should be treated as soon a... | |
What are the symptoms of Sener syndrome ? | What are the signs and symptoms of Sener syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Sener 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... | |
What are the symptoms of Verloove Vanhorick Brubakk syndrome ? | What are the signs and symptoms of Verloove Vanhorick Brubakk syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Verloove Vanhorick Brubakk syndrome. 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) Neuroacanthocytosis ? | Neuroacanthocytosis (NA) refers to a group of genetic disorders that are characterized by misshapen, spiny red blood cells (acanthocytosis) and neurological abnormalities, especially movement disorders. The onset, severity and specific physical findings vary depending upon the specific type of NA present. Signs and sym... | |
What are the treatments for Neuroacanthocytosis ? | How might neuroacanthocytosis be treated? There is currently no cure for neuroacanthocytosis. Management generally focuses on the specific symptoms that are present in each individual and may require the coordination of various specialists. Psychiatric symptoms and chorea may be treated with certain antipsychotic medic... | |
What is (are) Fournier gangrene ? | Fournier gangrene refers to the death of body tissue of the genitals and/or perineum. Signs and symptoms of the condition include genital pain, tenderness, redness, and swelling with a rapid progression to gangrene. Although the condition can affect men and women of all ages, it is most commonly diagnosed in adult male... | |
What are the symptoms of Osteogenesis imperfecta type II ? | What are the signs and symptoms of Osteogenesis imperfecta type II? The Human Phenotype Ontology provides the following list of signs and symptoms for Osteogenesis imperfecta type II. 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 Ramos Arroyo Clark syndrome ? | What are the signs and symptoms of Ramos Arroyo Clark syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Ramos Arroyo Clark syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePl... | |
What are the symptoms of Muscular dystrophy, congenital, megaconial type ? | What are the signs and symptoms of Muscular dystrophy, congenital, megaconial type? The Human Phenotype Ontology provides the following list of signs and symptoms for Muscular dystrophy, congenital, megaconial type. If the information is available, the table below includes how often the symptom is seen in people with t... | |
What is (are) Branchiooculofacial syndrome ? | Branchiooculofacial syndrome (BOFS) is a very rare genetic disorder that is apparent at birth. Only about 50 cases of BOFS had been reported in the medical literature. Like its name implies, BOFS is characterized by skin defects, eye abnormalities, and distinctive facial features. Among the reported cases thus far, the... | |
What are the symptoms of Branchiooculofacial syndrome ? | What are the signs and symptoms of Branchiooculofacial syndrome? The characteristic signs and symptoms of BOFS include skin defects, eye abnormalities, and distinctive facial features. These features vary among affected individuals. The skin defects include proliferation of blood vessels (hemangiomatous) in the lower n... | |
Is Branchiooculofacial syndrome inherited ? | How is branchiooculofacial syndrome (BOFS) inherited? Although some cases can be sporadic, most of the reported cases are inherited within families. BOFS is inherited in an autosomal dominant pattern, which means that one copy of the altered TFAP2A gene in each cell is sufficient to cause this condition. | |
How to diagnose Branchiooculofacial syndrome ? | How is branchiooculofacial syndrome (BOFS) diagnosed? BOFS can be diagnosed clinically based on the characteristic features of this condition. Genetic testing can also confirm the diagnosis. GeneTests lists the names of laboratories that are performing genetic testing for branchiooculofacial syndrome. To view the conta... | |
What is (are) Osteogenesis imperfecta ? | Osteogenesis imperfecta (OI) is a group of genetic disorders that mainly affect the bones. People with this condition have bones that break easily, often from little or no trauma. Severity varies among affected people. Multiple fractures are common, and in severe cases, can even occur before birth. Milder cases may inv... | |
What are the symptoms of Osteogenesis imperfecta ? | What are the signs and symptoms of Osteogenesis imperfecta? The Human Phenotype Ontology provides the following list of signs and symptoms for Osteogenesis imperfecta. 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 Osteogenesis imperfecta ? | What causes osteogenesis imperfecta? Osteogenesis imperfecta (OI) may be caused by changes (mutations) in any of several genes. OI is most commonly due to a mutation in either the COL1A1 or COL1A2 gene, causing OI types I through IV. These genes play a role in how the body makes collagen, a material that helps to stren... | |
Is Osteogenesis imperfecta inherited ? | How is osteogenesis imperfecta inherited? Osteogenesis imperfecta (OI) is most commonly inherited in an autosomal dominant manner. This means that having only one changed (mutated) copy of the responsible gene in each cell is enough to cause features of OI. The mutated copy of the gene may be inherited from an affected... | |
How to diagnose Osteogenesis imperfecta ? | Is genetic testing available for osteogenesis imperfecta? Genetic testing is available for individuals with osteogenesis imperfecta. The rate for detecting mutations in the genes that are responsible for OI varies depending on the type. Carrier testing may be available to relatives of affected individuals if the type o... | |
What is (are) Muscle eye brain disease ? | Muscle eye brain disease is a rare form of congenital muscular dystrophy. Individuals with this condition are born with muscle weakness (hypotonia), severe nearsightedness (myopia), glaucoma, and brain abnormalities. They also have developmental delay and intellectual disability. People with muscle eye brain disease fr... | |
What are the symptoms of Muscle eye brain disease ? | What are the signs and symptoms of Muscle eye brain disease? The Human Phenotype Ontology provides the following list of signs and symptoms for Muscle eye brain 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 Med... | |
What causes Muscle eye brain disease ? | What causes muscle eye brain disease? Muscle eye brain disease is caused by mutations in the POMGNT1 gene. This gene provides instructions for making a protein that is involved in adding sugar molecules to a protein called alpha dystroglycan. Alpha dystroglycan is important for stabilizing the muscle cell during contra... | |
What are the symptoms of Angiomatosis, diffuse corticomeningeal, of Divry and Van Bogaert ? | What are the signs and symptoms of Angiomatosis, diffuse corticomeningeal, of Divry and Van Bogaert? The Human Phenotype Ontology provides the following list of signs and symptoms for Angiomatosis, diffuse corticomeningeal, of Divry and Van Bogaert. If the information is available, the table below includes how often th... | |
What is (are) Blount disease ? | Blount disease is characterized by progressive bowing of the legs in infancy, early childhood, or adolescence. While it is not uncommon for young children to have bowed legs, typically the bowing improves with age. Blount disease is a condition that results from abnormal growth in the upper part of the shin bone (tibia... | |
What are the symptoms of Blount disease ? | What are the signs and symptoms of Blount disease? The Human Phenotype Ontology provides the following list of signs and symptoms for Blount 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 to l... | |
What is (are) Gamma aminobutyric acid transaminase deficiency ? | GABA (gamma-aminobutyric acid) is an important molecule which slows down the activity of cells in the brain.[1] GABA is broken down in the body by a substance known as 4-aminobutyrate aminotransferase, also known as GABA-transaminase or GABA-T.[1] Mutations in the ABAT gene can cause less GABA-T to be made, a condition... | |
What is (are) Diffuse idiopathic pulmonary neuroendocrine cell hyperplasia ? | Diffuse idiopathic pulmonary neuroendocrine cell hyperplasia (DIPNECH) is a rare condition in which cells called neuroendocrine cells spread and cluster in the small airways of the lungs. The majority of affected individuals are middled-aged women. Symptoms include shortness of breath and coughing. It is considered to ... | |
What is (are) 22q13.3 deletion syndrome ? | 22q13.3 deletion syndrome, also known as Phelan-McDermid syndrome, is a chromosome abnormality caused by the loss (deletion) of a small piece of chromosome 22. The deletion occurs near the end of the long arm (or q arm) at a location designated as q13.3. The signs and symptoms of this condition vary widely from person ... | |
What are the symptoms of 22q13.3 deletion syndrome ? | What are the signs and symptoms of 22q13.3 deletion syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for 22q13.3 deletion syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus M... | |
What are the symptoms of Camptobrachydactyly ? | What are the signs and symptoms of Camptobrachydactyly? The Human Phenotype Ontology provides the following list of signs and symptoms for Camptobrachydactyly. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dicti... | |
What is (are) Schindler disease type 1 ? | Schindler disease is an inherited condition that primarily causes neurological problems. There are three types of Schindler disease. Schindler disease type 1, also called the infantile type, is the most severe form. Babies with this condition appear healthy a birth, but by the age of 8 to 15 months they stop developing... | |
What are the symptoms of Schindler disease type 1 ? | What are the signs and symptoms of Schindler disease type 1? The Human Phenotype Ontology provides the following list of signs and symptoms for Schindler disease 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 Med... | |
What causes Schindler disease type 1 ? | What causes Schindler disease type 1? Schindler disease type 1 is caused by mutations in the NAGA gene. This gene provides instructions for making the enzyme alpha-N-acetylgalactosaminidase.This enzyme works in the lysosomes (compartments within cells that digest and recycle materials) to help break down complexes cal... | |
Is Schindler disease type 1 inherited ? | How is Schindler disease type 1 inherited? Schindler disease type 1 is inherited in an autosomal recessive pattern. This means that 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 so not s... | |
What are the symptoms of Familial encephalopathy with neuroserpin inclusion bodies ? | What are the signs and symptoms of Familial encephalopathy with neuroserpin inclusion bodies? The Human Phenotype Ontology provides the following list of signs and symptoms for Familial encephalopathy with neuroserpin inclusion bodies. If the information is available, the table below includes how often the symptom is s... | |
What are the symptoms of Kosztolanyi syndrome ? | What are the signs and symptoms of Kosztolanyi syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Kosztolanyi 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... | |
What are the symptoms of Epilepsy juvenile absence ? | What are the signs and symptoms of Epilepsy juvenile absence? The Human Phenotype Ontology provides the following list of signs and symptoms for Epilepsy juvenile absence. 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) Epithelial basement membrane corneal dystrophy ? | Epithelial basement membrane corneal dystrophy is a condition where the epithelium of the cornea (the outermost region of the cornea) loses its normal clarity due to a buildup of cloudy material. It gets its name from the unusual appearance of the cornea during an eye exam. This dystrophy occurs when the epithelium's b... | |
What are the symptoms of Epithelial basement membrane corneal dystrophy ? | What are the signs and symptoms of Epithelial basement membrane corneal dystrophy? A chronic problem seen in this condition is the epithelial erosions. They can alter the cornea's normal curvature, causing periodic blurred vision. These erosions may also expose the nerve endings that line the tissue, resulting in moder... | |
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... | |
What are the symptoms of Hypertrichosis congenital generalized X-linked ? | What are the signs and symptoms of Hypertrichosis congenital generalized X-linked? The Human Phenotype Ontology provides the following list of signs and symptoms for Hypertrichosis congenital generalized X-linked. If the information is available, the table below includes how often the symptom is seen in people with thi... | |
What are the symptoms of Alpha-ketoglutarate dehydrogenase deficiency ? | What are the signs and symptoms of Alpha-ketoglutarate dehydrogenase deficiency? The Human Phenotype Ontology provides the following list of signs and symptoms for Alpha-ketoglutarate dehydrogenase deficiency. If the information is available, the table below includes how often the symptom is seen in people with this co... | |
What is (are) Autoimmune pancreatitis ? | Autoimmune pancreatitis affects the pancreas, a gland behind the stomach and in front of the spine, and can also affect the bile ducts, salivary glands, kidneys, and lymph nodes. It is thought to occur when the immune system mistakenly begins to attack these healthy body tissues, glands, and organs. Common signs and sy... | |
What are the symptoms of Onychotrichodysplasia and neutropenia ? | What are the signs and symptoms of Onychotrichodysplasia and neutropenia? The Human Phenotype Ontology provides the following list of signs and symptoms for Onychotrichodysplasia and neutropenia. If the information is available, the table below includes how often the symptom is seen in people with this condition. You c... | |
What are the symptoms of CODAS syndrome ? | What are the signs and symptoms of CODAS syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for CODAS 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... | |
What are the symptoms of Bardet-Biedl syndrome 2 ? | What are the signs and symptoms of Bardet-Biedl syndrome 2? The Human Phenotype Ontology provides the following list of signs and symptoms for Bardet-Biedl syndrome 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 Medic... | |
What is (are) Chronic active Epstein-Barr virus infection ? | Chronic active Epstein-Barr virus infection is a rare condition in which the body makes too many lymphocytes, a type of white blood cell. Lymphocytes are an important part of the immune system because they help fight off diseases and protect the body from infection. About 95% of adults are infected with Epstein-Barr vi... | |
What are the symptoms of Chronic active Epstein-Barr virus infection ? | What are the signs and symptoms of Chronic active Epstein-Barr virus infection? The Human Phenotype Ontology provides the following list of signs and symptoms for Chronic active Epstein-Barr virus infection. If the information is available, the table below includes how often the symptom is seen in people with this cond... | |
What are the symptoms of Fanconi like syndrome ? | What are the signs and symptoms of Fanconi like syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Fanconi like syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical D... | |
What is (are) Pars planitis ? | Pars planitis is a disease of the eye that is characterized by inflammation of the narrowed area (pars plana) between the colored part of the eye (iris) and the choroid. This may lead to blurred vision; dark, floating spots in the vision; and progressive vision loss. As the condition advances, cataracts, retinal detach... | |
What are the symptoms of Pars planitis ? | What are the signs and symptoms of pars planitis? Pars planitis is characterized by inflammation of the narrowed area (pars plana) between the colored part of the eye (iris) and the choroid. This may lead to blurred vision; dark, floating spots in the vision; and progressive vision loss. Approximately 80% of cases are ... | |
What causes Pars planitis ? | What causes pars planitis? The exact underlying cause of pars planitis is unknown. Scientists suspect that it is an autoimmune condition in which the body's immune system mistakenly attacks healthy tissues (certain parts of the eyes, in this case). This is further supported by the fact that pars planitis is sometimes a... | |
How to diagnose Pars planitis ? | How is pars planitis diagnosed? Pars planitis is typically diagnosed based on a specialized eye examination. During the exam, the ophthalmologist will typically see clusters of white blood cells trapped within the eyeball that are called snowballs (or "inflammatory exudate"). If these clusters are located on the pars p... | |
What are the treatments for Pars planitis ? | How might pars planitis be treated? The first approach to treating pars planitis is corticosteroid eye drops or injections near the eye to control inflammation. Non-steroidal anti-inflammatory drugs (NSAIDs, including aspirin) or steroid medications (such as prednisone) can be taken by mouth. If these strategies are no... | |
What are the symptoms of Intellectual disability - athetosis - microphthalmia ? | What are the signs and symptoms of Intellectual disability - athetosis - microphthalmia? The Human Phenotype Ontology provides the following list of signs and symptoms for Intellectual disability - athetosis - microphthalmia. If the information is available, the table below includes how often the symptom is seen in peo... | |
What is (are) Multiple myeloma ? | Multiple myeloma is a form of cancer that occurs due to abnormal and uncontrolled growth of plasma cells in the bone marrow. Some people with multiple myeloma, especially those with early stages of the condition, have no concerning signs or symptoms. When present, the most common symptom is anemia, which can be associa... | |
What are the symptoms of Multiple myeloma ? | What are the signs and symptoms of Multiple myeloma? In some cases, multiple myeloma is not associated with any signs and symptoms. When present, the most common symptom is anemia (low red blood cell count), which can be associated with fatigue, shortness of breath, and dizziness. Other features of the condition may in... | |
What causes Multiple myeloma ? | What causes multiple myeloma? Although the exact underlying cause of multiple myeloma is poorly understood, the specific symptoms of the condition result from abnormal and excessive growth of plasma cells in the bone marrow. Plasma cells help the body fight infection by producing proteins called antibodies. In people w... | |
How to diagnose Multiple myeloma ? | How is multiple myeloma diagnosed? A diagnosis of multiple myeloma may be suspected based on the presence of characteristic signs and symptoms. Additional testing can then be ordered to confirm the diagnosis. This may include: Specialized blood tests including immunoglobulin studies, complete blood count with different... | |
What are the treatments for Multiple myeloma ? | How might multiple myeloma be treated? The treatment of multiple myeloma varies based on many factors including the age and general health of the affected person; the associated signs and symptoms; and the severity of the condition. In general, one or more of the following interventions may be used to treat multiple my... | |
What are the symptoms of Intellectual deficit - short stature - hypertelorism ? | What are the signs and symptoms of Intellectual deficit - short stature - hypertelorism? The Human Phenotype Ontology provides the following list of signs and symptoms for Intellectual deficit - short stature - hypertelorism. If the information is available, the table below includes how often the symptom is seen in peo... | |
What are the symptoms of Synovial chondromatosis, familial with dwarfism ? | What are the signs and symptoms of Synovial chondromatosis, familial with dwarfism? The Human Phenotype Ontology provides the following list of signs and symptoms for Synovial chondromatosis, familial with dwarfism. If the information is available, the table below includes how often the symptom is seen in people with t... | |
What is (are) Nablus mask-like facial syndrome ? | Nablus mask-like facial syndrome is a rare microdeletion syndrome that is characterized by a mask-like facial appearance. Facial features include narrowing of the eye opening (blepharophimosis); tight appearing glistening facial skin; and flat and broad nose. Other features include malformed ears; unusual scalp hair pa... | |
What are the symptoms of Nablus mask-like facial syndrome ? | What are the signs and symptoms of Nablus mask-like facial syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Nablus mask-like facial 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... | |
What is (are) Trigeminal Trophic Syndrome ? | Trigeminal trophic syndrome is a rare disease that affects the skin on the side of the nose, supplied by the trigeminal nerve. People with trigeminal trophic syndrome have a loss of sensation in the nose or abnormal sensations like tingling, numbness, or burning and they rub or scratch the skin causing cuts or ulcers i... | |
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... | |
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... | |
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... | |
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 ... | |
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... | |
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... | |
What is (are) Erythema nodosum, idiopathic ? | Erythema nodosum (EN) is a skin condition in which red bumps (nodules) form on the shins. Less commonly, the nodules form on other areas of the body such as the thighs and forearms. The lesions begin as firm, hot, red, painful lumps and progress to a purplish color. EN is a type of inflammatory disorder affecting the l... | |
What is (are) Wolman disease ? | Wolman disease is a type of lysosomal storage disorder. It is an inherited condition that causes a buildup of lipids (fats) in body organs and calcium deposits in the adrenal glands. Common symptoms in infants include enlarged liver and spleen, poor weight gain, low muscle tone, jaundice, vomiting, diarrhea, developmen... | |
What are the symptoms of Wolman disease ? | What are the signs and symptoms of Wolman disease? The Human Phenotype Ontology provides the following list of signs and symptoms for Wolman 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 to l... | |
What are the treatments for Wolman disease ? | How can I find additional comprehensive information on the treatment of Wolman disease? You can find relevant journal articles on Wolman syndrome and its treatment through a service called PubMed, a searchable database of medical literature. Information on finding an article and its title, authors, and publishing detai... | |
What are the symptoms of X-linked lymphoproliferative syndrome 2 ? | What are the signs and symptoms of X-linked lymphoproliferative syndrome 2? The Human Phenotype Ontology provides the following list of signs and symptoms for X-linked lymphoproliferative syndrome 2. If the information is available, the table below includes how often the symptom is seen in people with this condition. Y... | |
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 ... | |
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... | |
What is (are) Idiopathic acute eosinophilic pneumonia ? | Idiopathic acute eosinophilic pneumonia (IAEP) is characterized by the rapid accumulation of eosinophils in the lungs. Eosinophils are a type of white blood cell and are part of the immune system. IAEP can occur at any age but most commonly affects otherwise healthy individuals between 20 and 40 years of age. Signs and... | |
What are the symptoms of Idiopathic acute eosinophilic pneumonia ? | What are the signs and symptoms of Idiopathic acute eosinophilic pneumonia? The Human Phenotype Ontology provides the following list of signs and symptoms for Idiopathic acute eosinophilic pneumonia. 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 Transient erythroblastopenia of childhood ? | What are the signs and symptoms of Transient erythroblastopenia of childhood? The Human Phenotype Ontology provides the following list of signs and symptoms for Transient erythroblastopenia of childhood. If the information is available, the table below includes how often the symptom is seen in people with this conditio... | |
What is (are) Chromosome 7p deletion ? | Chromosome 7p deletion is a chromosome abnormality that occurs when there is a missing copy of the genetic material located on the short arm (p) of chromosome 7. The severity of the condition and the signs and symptoms depend on the size and location of the deletion and which genes are involved. Features that often occ... |
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