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What are the symptoms of Citrullinemia type I ? | What are the signs and symptoms of Citrullinemia type I? Citrullinemia type I presents as a clinical spectrum that includes an acute neonatal form, a milder late-onset form, a form without symptoms and/or hyperammonemia, and a form in which women have onset of severe symptoms during pregnancy or post partum. Infants wi... | |
What causes Citrullinemia type I ? | What causes citrullinemia type I? Citrullinemia type I is caused by mutations in the ASS1 gene. This gene provides instructions for making an enzyme, argininosuccinate synthetase 1, that is responsible for the third step in the urea cycle. Mutations in the ASS1 gene reduce the activity of the enzyme, which disrupts the... | |
Is Citrullinemia type I inherited ? | How is citrullinemia type I inherited? Citrullinemia type I 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 an... | |
What are the treatments for Citrullinemia type I ? | What happens when citrullinemia type I is not treated? Untreated individuals with the severe form of citrullinemia type I have hyperammonemia (plasma ammonia concentration 1000-3000 mol/L). Without prompt intervention, hyperammonemia and the accumulation of other toxic metabolites result in swelling of the brain, brea... | |
What are the symptoms of Optic atrophy 2 ? | What are the signs and symptoms of Optic atrophy 2? The Human Phenotype Ontology provides the following list of signs and symptoms for Optic atrophy 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 Medical Dictionary to... | |
What are the symptoms of 19p13.12 microdeletion syndrome ? | What are the signs and symptoms of 19p13.12 microdeletion syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for 19p13.12 microdeletion syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the M... | |
What is (are) Mantle cell lymphoma ? | Mantle cell lymphoma (MCL) belongs to a group of diseases known as non-Hodgkins lymphomas (NHL), which are cancers that affect the the lymphatic system (part of the immune system). MCL accounts for 6% of all non-Hodgkin lymphomas and is mostly found in males during their early 60s. Lymphocytes, which are white blood c... | |
What are the symptoms of Mantle cell lymphoma ? | What are the signs and symptoms of Mantle cell lymphoma? Common symptoms of Mantle cell lymphoma include fatigue, loss of appetite, and enlarged lymph nodes, spleen, and/or liver. Other symptoms may include night sweats, unexplained high fevers, and weight loss. The Human Phenotype Ontology provides the following list ... | |
What causes Mantle cell lymphoma ? | What causes Mantle cell lymphoma? Most lymphomas are not inherited, but rather an acquired disease in which the DNAwithin the cells has been damaged. Damage to the DNA occurs by a combination of different factors. Many mantle cell lymphomas are found to be associated with a chromsosome translocation. Some causes of non... | |
How to diagnose Mantle cell lymphoma ? | How is Mantle cell lymphoma diagnosed? Mantle cell lymphoma is diagnosed by a biopsy (surgical removal) of the lymph nodes. If lymph nodes are not easily accessible to be biopsied, a fine needle aspiration may be performed, but the diagnosis will not be definite. Chromosome translocations in Mantle cell lymphoma can be... | |
What are the treatments for Mantle cell lymphoma ? | How might Mantle cell lympoma be treated? Various treatmentsare currently available for Mantle cell lymphomas. Rare cases of early stage mantle cell lymphomas may be treated with radiation therapy. For more advance stagestreatment includes chemotherapy, immunotherapy, bone marrow transplant, and medication. | |
What is (are) Buschke Ollendorff syndrome ? | Buschke Ollendorff syndrome (BOS) is a genetic condition of the connective tissue. Common signs and symptoms include non-cancerous skin lumps and spots of increased bone density (which can be seen on X-ray). Some people with BOS have both skin and bone symptoms, while others have one or the other. Individual cases of ... | |
What are the symptoms of Buschke Ollendorff syndrome ? | What are the signs and symptoms of Buschke Ollendorff syndrome? Buschke Ollendorff syndrome (BOS) is an association of connective tissue nevi and osteopoikilosis (small, round areas of increased bone density). The nevi are typically present on the trunk, in the sacrolumbar region (lower back and sacrum), and on the ext... | |
Is Buschke Ollendorff syndrome inherited ? | How is Buschke Ollendorff syndrome inherited? Buschke Ollendorff syndrome (BOS) is caused by mutations in the LEMD3 gene and is inherited in an autosomal dominant manner. This means that only one changed (mutated) copy of the gene in each cell is sufficient for a person to be affected by the condition. An affected indi... | |
How to diagnose Buschke Ollendorff syndrome ? | Is genetic testing available for Buschke Ollendorff syndrome? Yes. GeneTests lists the names of laboratories that are performing genetic testing for Buschke Ollendorff syndrome. To view the contact information for the clinical laboratories conducting testing, click here. Please note: Most of the laboratories listed thr... | |
What are the treatments for Buschke Ollendorff syndrome ? | How might Buschke Ollendorff syndrome be treated? There is currently no cure for BOS. Surgical removal of lesions on or under the skin may be done for cosmetic purposes. In some patients, surgical treatment of deafness may be possible. Surgery might also be necessary for some of the signs or symptoms associated with BO... | |
What are the symptoms of Immunodeficiency without anhidrotic ectodermal dysplasia ? | What are the signs and symptoms of Immunodeficiency without anhidrotic ectodermal dysplasia? The Human Phenotype Ontology provides the following list of signs and symptoms for Immunodeficiency without anhidrotic ectodermal dysplasia. If the information is available, the table below includes how often the symptom is see... | |
What are the symptoms of Keratolytic winter erythema ? | What are the signs and symptoms of Keratolytic winter erythema? The Human Phenotype Ontology provides the following list of signs and symptoms for Keratolytic winter erythema. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePl... | |
What are the symptoms of Pseudohypoparathyroidism type 2 ? | What are the signs and symptoms of Pseudohypoparathyroidism type 2? The Human Phenotype Ontology provides the following list of signs and symptoms for Pseudohypoparathyroidism 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 M... | |
What is (are) Achalasia ? | Achalasia is a disorder of the esophagus, the tube that carries food from the mouth to the stomach. It is characterized by enlargement of the esophagus, impaired ability of the esophagus to push food down toward the stomach (peristalsis), and failure of the ring-shaped muscle at the bottom of the esophagus (the lower e... | |
What are the symptoms of Achalasia ? | What are the signs and symptoms of achalasia? Most people with achalasia experience difficulty swallowing, also known as dysphagia and heartburn. Other symptoms might include: regurgitation or vomiting, noncardiac chest pain, odynophagia (painful swallowing), and pain in the upper central region of the abdomen. Non eso... | |
What causes Achalasia ? | What causes achalasia? The lower esophageal sphincter, the ring-shaped muscle at the bottom of the esophagus, normally relaxes during swallowing. In people with achalasia, this muscle ring does not relax as well. The reason for this problem is damage to the nerves of the esophagus. In some people, this problem appears ... | |
How to diagnose Achalasia ? | How is achalasia diagnosed? Achalasia is suspected in individuals with dysphagia (difficulty swallowing) and in instances where regurgitation symptoms are not responsive to protein pump inhibitor medication. The diagnosis of achalasia is confirmed by manometry (test that measures how well the esophagus is working); ho... | |
What are the treatments for Achalasia ? | How might achalasia be treated? The aim of treatment is to reduce the pressure at the lower esophageal sphincter. Therapy may involve: Injection with botulinum toxin (Botox) to help relax the sphincter muscles (used as a temporary fix) Medications, such as long-acting nitrates (i.e. isosorbide dinitrate) or calcium ch... | |
What is (are) Hereditary sensory and autonomic neuropathy ? | Hereditary sensory autonomic neuropathy (HSAN) is a group of rare peripheral neuropathies where neurons and/or axons are affected. The major feature of these conditions is the loss of large myelinated and unmyelinated fibers. Myelin is an insulating layer, or sheath that forms around nerves, made up of protein and fatt... | |
What is (are) Nodular nonsuppurative panniculitis ? | Nodular nonsuppurative panniculitis describes a rare group of skin disorders characterized by tender, painful bumps below the surface of the skin (subcutaneous nodules) that usually lead to inflammation of the subcutaneous layer of fat (panniculitis). These nodules tend to be 1-2 centimeters in length and most often af... | |
What are the symptoms of Nodular nonsuppurative panniculitis ? | What are the signs and symptoms of Nodular nonsuppurative panniculitis? The Human Phenotype Ontology provides the following list of signs and symptoms for Nodular nonsuppurative panniculitis. 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 treatments for Nodular nonsuppurative panniculitis ? | How might nodular nonsuppurative panniculitis be treated? Treatment for nodular nonsuppurative panniculitis (NNP) generally aims at controlling and relieving the symptoms that an individual has. Before treatment is initiated, a work-up should be completed to determine whether the condition is secondary to another under... | |
What are the symptoms of PPM-X syndrome ? | What are the signs and symptoms of PPM-X syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for PPM-X 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 Medium-chain 3-ketoacyl-coa thiolase deficiency ? | What are the signs and symptoms of Medium-chain 3-ketoacyl-coa thiolase deficiency? The Human Phenotype Ontology provides the following list of signs and symptoms for Medium-chain 3-ketoacyl-coa thiolase deficiency. If the information is available, the table below includes how often the symptom is seen in people with t... | |
What are the symptoms of Rommen Mueller Sybert syndrome ? | What are the signs and symptoms of Rommen Mueller Sybert syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Rommen Mueller Sybert 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 Med... | |
What are the symptoms of Anonychia-onychodystrophy with hypoplasia or absence of distal phalanges ? | What are the signs and symptoms of Anonychia-onychodystrophy with hypoplasia or absence of distal phalanges? The Human Phenotype Ontology provides the following list of signs and symptoms for Anonychia-onychodystrophy with hypoplasia or absence of distal phalanges. If the information is available, the table below inclu... | |
What is (are) Isolated corpus callosum agenesis ? | Agenesis of the corpus callosum (ACC) is a birth defect in which the structure that connects the two sides of the brain (the corpus callosum) is partially or completely absent. This birth defect can occur as an isolated condition or in combination with other abnormalities. The effects of agenesis of the corpus callosum... | |
What are the symptoms of Isolated corpus callosum agenesis ? | What are the signs and symptoms of Isolated corpus callosum agenesis? The Human Phenotype Ontology provides the following list of signs and symptoms for Isolated corpus callosum agenesis. 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 Otofaciocervical syndrome ? | What are the signs and symptoms of Otofaciocervical syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Otofaciocervical 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 Cerebral sarcoma ? | What are the signs and symptoms of Cerebral sarcoma? The Human Phenotype Ontology provides the following list of signs and symptoms for Cerebral sarcoma. 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 Pelizaeus-Merzbacher-like disease ? | What are the signs and symptoms of Pelizaeus-Merzbacher-like disease? The Human Phenotype Ontology provides the following list of signs and symptoms for Pelizaeus-Merzbacher-like disease. 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 is (are) Benign multicystic peritoneal mesothelioma ? | Benign multicystic peritoneal mesothelioma (BMPM) is a very rare benign cystic tumor arising from the peritoneal mesothelium (lining of the abdominal wall). It commonly occurs in young to middle-aged women who have a prior history of abdominal surgery, endometriosis, or pelvic inflammatory disease. The first symptoms u... | |
What are the treatments for Benign multicystic peritoneal mesothelioma ? | How might benign multicystic peritoneal mesothelioma be treated? Surgery to remove the cystic lesions is the only effective treatment for BMPM. Aggressive surgical approaches are often recommended. Hormonal therapy has also been attempted in individual cases with variable degrees of success. Most affected individuals d... | |
What are the symptoms of Transcobalamin 1 deficiency ? | What are the signs and symptoms of Transcobalamin 1 deficiency? The Human Phenotype Ontology provides the following list of signs and symptoms for Transcobalamin 1 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 MedlinePl... | |
What is (are) Osteopetrosis autosomal dominant type 2 ? | Osteopetrosis is a bone disease that makes bones abnormally dense and prone to breakage (fracture). Researchers have described several major types of osteopetrosis, which are usually distinguished by their pattern of inheritance: autosomal dominant, autosomal recessive, or X-linked. The different types of the disorder ... | |
What are the symptoms of Osteopetrosis autosomal dominant type 2 ? | What are the signs and symptoms of Osteopetrosis autosomal dominant type 2? The Human Phenotype Ontology provides the following list of signs and symptoms for Osteopetrosis autosomal dominant type 2. 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 X-linked Charcot-Marie-Tooth disease type 3 ? | What are the signs and symptoms of X-linked Charcot-Marie-Tooth disease type 3? The Human Phenotype Ontology provides the following list of signs and symptoms for X-linked Charcot-Marie-Tooth disease type 3. 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 Sabinas brittle hair syndrome ? | What are the signs and symptoms of Sabinas brittle hair syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Sabinas brittle hair 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 are the symptoms of Ventricular extrasystoles with syncopal episodes - perodactyly - Robin sequence ? | What are the signs and symptoms of Ventricular extrasystoles with syncopal episodes - perodactyly - Robin sequence? The Human Phenotype Ontology provides the following list of signs and symptoms for Ventricular extrasystoles with syncopal episodes - perodactyly - Robin sequence. If the information is available, the tab... | |
What is (are) Hereditary endotheliopathy, retinopathy, nephropathy, and stroke ? | Hereditary endotheliopathy with retinopathy, nephropathy, and stroke (HERNS) is a rare genetic condition that affects the vascular endothelium (the inner lining of the arteries and blood vessels). Specifically, the small blood vessels of the brain (microangiopathy); retina (vascular retinopathy); and kidneys are affect... | |
What are the symptoms of Hereditary endotheliopathy, retinopathy, nephropathy, and stroke ? | What are the signs and symptoms of Hereditary endotheliopathy, retinopathy, nephropathy, and stroke? Very few cases of hereditary endotheliopathy with retinopathy, nephropathy, and stroke (HERNS) have been reported. Based upon these reports, it appears that symptoms often begin in the 30s or 40s. Early symptoms, which ... | |
Is Hereditary endotheliopathy, retinopathy, nephropathy, and stroke inherited ? | How is hereditary endotheliopathy with retinopathy, nephropathy, and stroke (HERNS) inherited? Hereditary endotheliopathy with retinopathy, nephropathy, and stroke (HERNS) is inherited in an autosomal dominant manner. This means that having a mutation in only one copy of the gene responsible for the condition is suffic... | |
What are the treatments for Hereditary endotheliopathy, retinopathy, nephropathy, and stroke ? | How might hereditary endotheliopathy with retinopathy, nephropathy, and stroke (HERNS) be treated? At this time there is no effective treatment for hereditary endotheliopathy with retinopathy, nephropathy, and stroke (HERNS). Treatment of HERNS is largely palliative, which means that it is aimed at decreasing pain and ... | |
What are the symptoms of Benign paroxysmal positional vertigo ? | What are the signs and symptoms of Benign paroxysmal positional vertigo? The Human Phenotype Ontology provides the following list of signs and symptoms for Benign paroxysmal positional vertigo. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can... | |
What is (are) Trismus-pseudocamptodactyly syndrome ? | Trismus-pseudocamptodactyly syndrome is a disorder of muscle development and function. It is characterized by short muscles and tendons resulting in limited range of motion of the hands, legs, and mouth. Both sporadic occurrence and autosomal dominant inheritance have been reported in the medical literature. The most s... | |
What are the symptoms of Trismus-pseudocamptodactyly syndrome ? | What are the signs and symptoms of Trismus-pseudocamptodactyly syndrome? While the symptoms of trismus-pseudocamptodactyly syndrome vary from patient to patient, characteristic symptoms include the inability to open the mouth wide (e.g., less than 6 mm, just under 1/4 of an inch) and shortened muscles, including of the... | |
What are the treatments for Trismus-pseudocamptodactyly syndrome ? | How might trismus-pseudocamptodactyly syndrome be treated? While the best treatment options for trismus-pseudocamptodactyly syndrome have not been well established cases of improvement of mouth mobility following surgery and physical therapy have been reported in the medical literature. We recommend that you speak with... | |
What are the symptoms of Nephropathy, deafness, and hyperparathyroidism ? | What are the signs and symptoms of Nephropathy, deafness, and hyperparathyroidism? The Human Phenotype Ontology provides the following list of signs and symptoms for Nephropathy, deafness, and hyperparathyroidism. If the information is available, the table below includes how often the symptom is seen in people with thi... | |
What is (are) Triploidy ? | Triploidy is a chromosome abnormality that occurs when there is an extra set of chromosomes present in each cell. Most pregnancies affected by triploidy are lost through early miscarriage. However, reports exist of some affected babies living up to five months. Those that survive are often mosaic. The signs and symptom... | |
What are the symptoms of Triploidy ? | What are the signs and symptoms of Triploidy? The Human Phenotype Ontology provides the following list of signs and symptoms for Triploidy. 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 look up the... | |
What are the symptoms of Retinal arterial macroaneurysm with supravalvular pulmonic stenosis ? | What are the signs and symptoms of Retinal arterial macroaneurysm with supravalvular pulmonic stenosis? The Human Phenotype Ontology provides the following list of signs and symptoms for Retinal arterial macroaneurysm with supravalvular pulmonic stenosis. If the information is available, the table below includes how of... | |
What are the symptoms of Weissenbacher-Zweymuller syndrome ? | What are the signs and symptoms of Weissenbacher-Zweymuller syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Weissenbacher-Zweymuller syndrome. 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 8p23.1 duplication syndrome ? | What are the signs and symptoms of 8p23.1 duplication syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for 8p23.1 duplication 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 Total Hypotrichosis, Mari type ? | What are the signs and symptoms of Total Hypotrichosis, Mari type? The Human Phenotype Ontology provides the following list of signs and symptoms for Total Hypotrichosis, Mari type. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the Med... | |
What is (are) Trisomy 2 mosaicism ? | Trisomy 2 mosaicism is a rare chromosome condition caused by the presence of an extra copy of chromosome 2 in a subset of a persons cells. Many cases of trisomy 2 mosaicism result in spontaneous abortion or miscarriage during pregnancy. In live born infants, signs and symptoms vary widely but generally include poor gro... | |
What is (are) GM1 gangliosidosis ? | 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 ? | What are the signs and symptoms of GM1 gangliosidosis? There are three general types of GM1 gangliosidosis, which differ in severity but can have considerable overlap of signs and symptoms. Classic infantile (type 1) GM1 gangliosidosis is the most severe type, with onset shortly after birth (usually within 6 months of ... | |
What causes GM1 gangliosidosis ? | What causes GM1 gangliosidosis? All three types of GM1 gangliosidosis are caused by mutations (changes) in the GLB1 gene. This gene gives the body instructions to make an enzyme called beta-galactosidase (-galactosidase), which plays an important role in the brain. The enzyme resides in compartments within cells called... | |
Is GM1 gangliosidosis inherited ? | How is GM1 gangliosidosis inherited? GM1 gangliosidosis is a hereditary condition that is 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, ... | |
How to diagnose GM1 gangliosidosis ? | Is genetic testing available for GM1 gangliosidosis? Yes. A diagnosis of GM1 gangliosidosis (GM1), can be made by either enzyme analysis of the beta-galactosidase enzyme, or by molecular genetic testing of the GLB1 gene. Despite the availability of molecular genetic testing, the mainstay of diagnosis will likely contin... | |
What are the treatments for GM1 gangliosidosis ? | How might GM1 gangliosidosis be treated? There is currently no effective medical treatment for GM1 gangliosidosis. Symptomatic treatment for some of the neurologic signs and symptoms is available, but does not significantly alter the progression of the condition. For example, anticonvulsants may initially control seizu... | |
What is (are) IBIDS syndrome ? | Tay syndrome is a rare genetic disorder characterized by congenital ichthyosis (dry, fish-like scaly skin present at birth) and abnormal brittle hair (trichothiodystrophy). | |
What are the symptoms of IBIDS syndrome ? | What are the signs and symptoms of IBIDS syndrome? The most common symptoms of Tay syndrome are brittle hair (trichothiodystrophy); dry, thickened, scaling skin (ichthyosis); photosensitivity (abnormal light sensitivity); abnormal nails; and multiple developmental defects. Other features include: low birth weight, shor... | |
Is IBIDS syndrome inherited ? | What causes Tay syndrome? How is it inherited? Although Tay syndrome is known to be genetic, the gene(s) associated with the condition is(are) unknown. Tay syndrome is inherited in an autosomal recessive pattern , which means two copies of the gene in each cell are altered (mutated). If both parents carry the gene for ... | |
What are the treatments for IBIDS syndrome ? | What treatment is available for Tay syndrome? Treatments for Tay syndrome are symptomatic. There is no cure for ichthyosis, only treatments to help manage symptoms. The main treatment for ichthyosis is to hydrate (moisturize) the skin, hold in the moisture, and keep scale thickness to a minimum. | |
What are the symptoms of Telfer Sugar Jaeger syndrome ? | What are the signs and symptoms of Telfer Sugar Jaeger syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Telfer Sugar Jaeger 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 Medline... | |
What is (are) Hypohidrotic ectodermal dysplasia with hypothyroidism and ciliary dyskinesia ? | Hypohidrotic ectodermal dysplasia with hypothyroidism and ciliary dyskinesia is a rare condition characterized by alopecia (hair loss); nail dystrophy (abnormal development of the nails); ophthalmic (eye-related) complications; thyroid dysfunction (primary hypothyroidism); hypohidrosis; ephelides (freckles); enteropath... | |
What are the symptoms of Hypohidrotic ectodermal dysplasia with hypothyroidism and ciliary dyskinesia ? | What are the signs and symptoms of Hypohidrotic ectodermal dysplasia with hypothyroidism and ciliary dyskinesia? The Human Phenotype Ontology provides the following list of signs and symptoms for Hypohidrotic ectodermal dysplasia with hypothyroidism and ciliary dyskinesia. If the information is available, the table bel... | |
What are the symptoms of Congenital intrauterine infection-like syndrome ? | What are the signs and symptoms of Congenital intrauterine infection-like syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Congenital intrauterine infection-like syndrome. If the information is available, the table below includes how often the symptom is seen in people with t... | |
What is (are) Sideroblastic anemia pyridoxine-refractory autosomal recessive ? | Sideroblastic anemia pyridoxine-refractory autosomal recessive is an inherited blood disorder that is characterized by an impaired ability of the bone marrow to produce normal red blood cells. The iron inside red blood cells is inadequately used to make hemoglobin, despite adequate or increased amounts of iron. Abnorma... | |
What are the symptoms of Sideroblastic anemia pyridoxine-refractory autosomal recessive ? | What are the signs and symptoms of Sideroblastic anemia pyridoxine-refractory autosomal recessive? The symptoms of sideroblastic anemia are the same as for any anemia and iron overload. These may include fatigue, weakness, palpitations, shortness of breath, headaches, irritability, and chest pain. Physical findings may... | |
What causes Sideroblastic anemia pyridoxine-refractory autosomal recessive ? | What causes sideroblastic anemia pyridoxine-refractory autosomal recessive? Sideroblastic anemia pyridoxine-refractory autosomal recessive is caused by mutations in the SLC25A38 gene. It is inherited in an autosomal recessive fashion. Click here to learn more about autosomal recessive inheritance. | |
What are the treatments for Sideroblastic anemia pyridoxine-refractory autosomal recessive ? | How might sideroblastic anemia pyridoxine-refractory autosomal recessive be treated? Currently there is not a cure for sideroblastic anemia pyridoxine-refractory autosomal recessive, however with proper treatment the life-expectancy of people with this anemia can be close to normal. Treatments are aimed at preventing o... | |
What is (are) Neurocutaneous melanosis ? | Neurocutaneous melanosis (NCM) is a rare, non-inherited condition of the central nervous system. It is characterized by melanocytic nevi in both the skin and the brain. Two-thirds of people with NCM have giant congenital melanocytic nevi, and the remaining one-third have numerous lesions but no giant lesions. Most pati... | |
What are the symptoms of Neurocutaneous melanosis ? | What are the signs and symptoms of Neurocutaneous melanosis? The Human Phenotype Ontology provides the following list of signs and symptoms for Neurocutaneous melanosis. 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 is (are) Pineal cyst ? | Pineal cysts are cysts of the pineal gland which is a small organ in the brain that produces melatonin (a sleep-regulating hormone). Pineal cysts are relatively common and may be found by chance in up to 10% of people undergoing CT or MRI brain imaging. The exact cause of pineal cysts is unknown. Most people with pinea... | |
What are the symptoms of Pineal cyst ? | What are the signs and symptoms of pineal cysts? People with pineal cysts generally do not have any signs or symptoms. Occasionally, pineal cysts may cause headaches, hydrocephalus, disturbances in vision (gaze palsy), Parinaud syndrome, and vertigo, in which case they are called symptomatic pineal cysts. Although rare... | |
What causes Pineal cyst ? | What causes pineal cysts? The exact cause of pineal cysts is unknown. However, some studies suggest that bleeding in the pineal region or hormonal influences may play a role in the development and progression of pineal cysts. | |
What are the treatments for Pineal cyst ? | How might pineal cysts be treated? The best treatment options for pineal cysts depend on many factors, including the size of the cyst and whether or not it is associated with symptoms. For example, people with pineal cysts that do not cause symptoms may not require any form of treatment. However, they may need to have ... | |
What is (are) Reynolds syndrome ? | Reynolds syndrome is a condition characterized by scleroderma with primary biliary cirrhosis. Scleroderma is mainly limited to CREST syndrome, which includes calcinosis cutis (calcium deposits in the skin), Raynaud's phenomenon, esophageal dysfunction (acid reflux and decrease in motility in the esophagus), sclerodacty... | |
What are the symptoms of Reynolds syndrome ? | What are the signs and symptoms of Reynolds syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Reynolds 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... | |
What are the symptoms of Tetraamelia with ectodermal dysplasia and lacrimal duct abnormalities ? | What are the signs and symptoms of Tetraamelia with ectodermal dysplasia and lacrimal duct abnormalities? The Human Phenotype Ontology provides the following list of signs and symptoms for Tetraamelia with ectodermal dysplasia and lacrimal duct abnormalities. If the information is available, the table below includes ho... | |
What is (are) Cor triatriatum ? | Cor triatriatum is an extremely rare congenital (present at birth) heart defect. The human heart normally has four chambers, two ventricles and two atria. The two atria are normally separated from each other by a partition called the atrial septum and the two ventricles by the ventricle septum. In cor triatriatum there... | |
What is (are) Juvenile Huntington disease ? | Juvenile Huntington disease (HD) is a less common, early-onset form of Huntington disease that begins in childhood or adolescence. It is also a progressive disorder that causes the breakdown of brain cells in certain areas of the brain. This results in uncontrolled movements, loss of intellectual abilities, and emotion... | |
What are the symptoms of Juvenile Huntington disease ? | What are the signs and symptoms of Juvenile Huntington disease? A common sign of juvenile HD is a rapid decline in school performance. Symptoms can also include subtle changes in handwriting and slight problems with movement, such as slowness, rigidity, tremor, and rapid muscular twitching, called myoclonus. Several of... | |
What causes Juvenile Huntington disease ? | What causes Juvenile Huntington disease (HD)? Mutations in the HTT gene cause Huntington disease. The HTT gene provides instructions for making a protein called huntingtin. Although the function of this protein is unknown, it appears to play an important role in nerve cells (neurons) in the brain. When the huntingtin p... | |
Is Juvenile Huntington disease inherited ? | How is Juvenile Huntington disease (HD) inherited? Juvenile HD is inherited in an autosomal dominant manner, which means that one copy of the altered gene in each cell is sufficient to cause the disorder. An affected person usually inherits the altered gene from one affected parent. As the altered HTT gene is passed fr... | |
How to diagnose Juvenile Huntington disease ? | How is Juvenile Huntington disease (HD) diagnosed? The diagnosis is usually made by experienced neurologists. A neurologist will often first obtain the persons medical history asking about recent intellectual or emotional problems, which may be indications of HD. A family history may be taken as well, looking for autos... | |
What are the treatments for Juvenile Huntington disease ? | How might Juvenile Huntington disease (HD) be treated? Physicians may prescribe a number of medications to help control emotional and movement problems associated with HD. It is important to remember however, that while medicines may help keep these clinical symptoms under control, there is no treatment to stop or reve... | |
What are the symptoms of 3 methylglutaconic aciduria type V ? | What are the signs and symptoms of 3 methylglutaconic aciduria type V? The Human Phenotype Ontology provides the following list of signs and symptoms for 3 methylglutaconic aciduria type V. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use... | |
What is (are) Imerslund-Grasbeck syndrome ? | Imerslund-Grasbeck syndrome (IGS) is a rare condition characterized by vitamin B12 deficiency, often causing megaloblastic anemia. IGS usually appears in childhood. Other features may include failure to thrive, infections, and neurological damage. Mild proteinuria (with no signs of kidney disease) is present in about h... | |
What are the symptoms of Imerslund-Grasbeck syndrome ? | What are the signs and symptoms of Imerslund-Grasbeck syndrome? Affected individuals often first experience non-specific health problems, such as failure to thrive and grow, recurrent gastrointestinal or respiratory infections, pallor and fatigue. Individuals often have anemia, and about half of affected individuals al... | |
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 ... | |
What are the symptoms of Optic atrophy polyneuropathy deafness ? | What are the signs and symptoms of Optic atrophy polyneuropathy deafness? The Human Phenotype Ontology provides the following list of signs and symptoms for Optic atrophy polyneuropathy deafness. If the information is available, the table below includes how often the symptom is seen in people with this condition. You c... |
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