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What are the symptoms of Mucopolysaccharidosis type IIIB ? | What are the signs and symptoms of Mucopolysaccharidosis type IIIB? The Human Phenotype Ontology provides the following list of signs and symptoms for Mucopolysaccharidosis type IIIB. 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 Hemophagocytic lymphohistiocytosis, familial, 3 ? | What are the signs and symptoms of Hemophagocytic lymphohistiocytosis, familial, 3? The Human Phenotype Ontology provides the following list of signs and symptoms for Hemophagocytic lymphohistiocytosis, familial, 3. If the information is available, the table below includes how often the symptom is seen in people with t... |
What are the symptoms of Familial episodic pain syndrome ? | What are the signs and symptoms of Familial episodic pain syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Familial episodic pain 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) 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 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 are the symptoms of Pelvic dysplasia arthrogryposis of lower limbs ? | What are the signs and symptoms of Pelvic dysplasia arthrogryposis of lower limbs? The Human Phenotype Ontology provides the following list of signs and symptoms for Pelvic dysplasia arthrogryposis of lower limbs. If the information is available, the table below includes how often the symptom is seen in people with thi... |
What is (are) Agenesis of the dorsal pancreas ? | Agenesis of the dorsal pancreas describes a congenital malformation of the pancreas in which either the entire dorsal pancreas or part of the dorsal pancreas fails to develop (complete agenesis or partial agenesis, respectively). Some individuals experience no symptoms, while others may develop hyperglycemia, diabetes ... |
What are the symptoms of Agenesis of the dorsal pancreas ? | What are the signs and symptoms of Agenesis of the dorsal pancreas? The Human Phenotype Ontology provides the following list of signs and symptoms for Agenesis of the dorsal pancreas. 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 causes Agenesis of the dorsal pancreas ? | What causes agenesis of the dorsal pancreas? Partial or complete agenesis of the dorsal pancreas results from the failure of the dorsal pancreatic bud to form the body and tail of the pancreas in the developing fetus. It may occur from the absence, or regression of, the dorsal bud during fetal development. Heredity may... |
What are the treatments for Agenesis of the dorsal pancreas ? | How might agenesis of the dorsal pancreas be treated? Because agenesis of the dorsal pancreas is considered rare and few cases have been reported in the literature, there is limited information about how the condition as a whole might be treated or managed. However, there is current information about how some of the si... |
What are the symptoms of STING-associated vasculopathy with onset in infancy ? | What are the signs and symptoms of STING-associated vasculopathy with onset in infancy? The Human Phenotype Ontology provides the following list of signs and symptoms for STING-associated vasculopathy with onset in infancy. If the information is available, the table below includes how often the symptom is seen in peopl... |
What is (are) Precocious puberty ? | Precocious puberty is when a person's sexual and physical traits develop and mature earlier than normal. Normal puberty typically begins between ages 10 and 14 for girls, and ages 12 and 16 for boys. The start of puberty depends on various factors such as family history, nutrition and gender. The cause of precocious pu... |
What are the symptoms of Precocious puberty ? | What are the signs and symptoms of Precocious puberty? The Human Phenotype Ontology provides the following list of signs and symptoms for Precocious puberty. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Diction... |
What are the treatments for Precocious puberty ? | What are the long term effects of treatment for precocious puberty? Several studies have looked at the long-term effects of treatment with hormone therapy on children with precocious puberty. Long-term hormone treatment has been found to be safe for the reproductive system and helpful in reaching target adult height le... |
What is (are) Leber hereditary optic neuropathy with dystonia ? | Leber hereditary optic neuropathy (LHON) with dystonia is a very rare variant of LHON where an individual has LHON associated with dystonia, which involves involuntary muscle contractions, tremors, and other unctrolled movements. It is caused by mutations in one of three mitochondrial genes: MT-ND1, MT-ND3, MT-ND4, and... |
What are the symptoms of Leber hereditary optic neuropathy with dystonia ? | What are the signs and symptoms of Leber hereditary optic neuropathy with dystonia? The Human Phenotype Ontology provides the following list of signs and symptoms for Leber hereditary optic neuropathy with dystonia. If the information is available, the table below includes how often the symptom is seen in people with t... |
What are the symptoms of Cornea guttata with anterior polar cataract ? | What are the signs and symptoms of Cornea guttata with anterior polar cataract? The Human Phenotype Ontology provides the following list of signs and symptoms for Cornea guttata with anterior polar cataract. 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 Acatalasemia ? | What are the signs and symptoms of Acatalasemia? The Human Phenotype Ontology provides the following list of signs and symptoms for Acatalasemia. 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 ... |
What is (are) Growth hormone deficiency ? | Growth hormone deficiency is characterized by abnormally short height due to lack (or shortage) of growth hormone. It can be congenital (present at birth) or acquired. Most of the time, no single clear cause can be identified. Most cases are identified in children. Although it is uncommon, growth hormone deficiency may... |
What is (are) Immunodeficiency with hyper IgM type 1 ? | Hyper IgM syndrome is a type of primary immunodeficiency syndrome. Primary immunodeficiency occurs when part of a persons immune system is missing or does not work correctly. The bodies of people with primary immunodeficiency cant get rid of germs or protect themselves from new germs as well as they should. Primary imm... |
What are the symptoms of Immunodeficiency with hyper IgM type 1 ? | What are the signs and symptoms of Immunodeficiency with hyper IgM type 1? Symptoms and physical findings associated with hyper IgM syndrome usually become apparent in the first or second year of life. This condition may be characterized by recurrent pus-producing (pyogenic) bacterial infections of the upper and lower ... |
What causes Immunodeficiency with hyper IgM type 1 ? | What causes hyper IgM syndrome? A flawed gene (or genes) in T-cells (a type of white blood cell that is part of the immune system and helps the body fight diseases or harmful substances) is responsible for hyper IgM syndrome. The faulty T-cells do not give B-cells a signal they need to switch from making IgM to IgA and... |
What are the treatments for Immunodeficiency with hyper IgM type 1 ? | How might hyper IgM syndrome be treated? The cornerstone of treatment for individuals with hyper IgM syndrome is regular injections of intravenous immunogloblulin (IVIG). This treatment not only supplies missing IgG antibodies, but also prompts a drop in IgM antibodies. Patients with neutropenia can take granulocyte co... |
What are the symptoms of X-linked hypohidrotic ectodermal dysplasia ? | What are the signs and symptoms of X-linked hypohidrotic ectodermal dysplasia? The Human Phenotype Ontology provides the following list of signs and symptoms for X-linked hypohidrotic ectodermal dysplasia. If the information is available, the table below includes how often the symptom is seen in people with this condit... |
What are the symptoms of Spinocerebellar ataxia 21 ? | What are the signs and symptoms of Spinocerebellar ataxia 21? The Human Phenotype Ontology provides the following list of signs and symptoms for Spinocerebellar ataxia 21. 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 Kenny-Caffey syndrome type 1 ? | What are the signs and symptoms of Kenny-Caffey syndrome type 1? The Human Phenotype Ontology provides the following list of signs and symptoms for Kenny-Caffey syndrome 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 Medline... |
What are the symptoms of Grubben de Cock Borghgraef syndrome ? | What are the signs and symptoms of Grubben de Cock Borghgraef syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Grubben de Cock Borghgraef 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 are the symptoms of Mucolipidosis III alpha/beta ? | What are the signs and symptoms of Mucolipidosis III alpha/beta? The Human Phenotype Ontology provides the following list of signs and symptoms for Mucolipidosis III alpha/beta. 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 are the symptoms of Limb-girdle muscular dystrophy, type 2G ? | What are the signs and symptoms of Limb-girdle muscular dystrophy, type 2G? The Human Phenotype Ontology provides the following list of signs and symptoms for Limb-girdle muscular dystrophy, type 2G. If the information is available, the table below includes how often the symptom is seen in people with this condition. Y... |
What is (are) Tracheal agenesis ? | Tracheal agenesis is a rare birth defect in which the trachea (windpipe) is completely absent (agenesis) or significantly underdeveloped (atresia). Signs and symptoms include polyhydramnios during pregnancy and respiratory distress, bluish skin color (cyanosis) and no audible cry shortly after birth. The underlying cau... |
What are the symptoms of Tracheal agenesis ? | What are the signs and symptoms of Tracheal agenesis? The Human Phenotype Ontology provides the following list of signs and symptoms for Tracheal agenesis. 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 is (are) MECP2 duplication syndrome ? | MECP2 duplication syndrome is a genetic condition that occurs almost exclusively in males and is characterized by moderate to severe intellectual disability. Other signs and symptoms include infantile hypotonia; delayed motor milestones (i.e. sitting up, crawling); recurrent infections; poor or absent speech; seizures;... |
What are the symptoms of MECP2 duplication syndrome ? | What are the signs and symptoms of MECP2 duplication syndrome? MECP2 duplication syndrome is a condition that occurs almost exclusively in males and is characterized by moderate to severe intellectual disability. Infants affected by this condition are generally diagnosed with severe hypotonia within the first few weeks... |
What causes MECP2 duplication syndrome ? | What causes MECP2 duplication syndrome? MECP2 duplication syndrome occurs when there is an extra copy (duplication) of the MECP2 gene in each cell. This is generally caused by a duplication of genetic material located on the long (q) arm of the X chromosome. The size of the duplication can vary; however, this does not ... |
Is MECP2 duplication syndrome inherited ? | Is MECP2 duplication syndrome inherited? MECP2 duplication syndrome is inherited in an X-linked manner. A condition is considered X-linked if the genetic change that causes the condition is located on the X chromosome, one of the two sex chromosomes (the Y chromosome is the other sex chromosome). In males (who have onl... |
How to diagnose MECP2 duplication syndrome ? | How is MECP2 duplication syndrome diagnosed? A diagnosis of MECP2 duplication syndrome is often suspected based on the presence of characteristic signs and symptoms. Genetic testing can then be ordered to confirm the diagnosis. |
What are the treatments for MECP2 duplication syndrome ? | How might MECP2 duplication syndrome be treated? Because MECP2 duplication syndrome affects many different systems of the body, medical management is often provided by a team of doctors and other healthcare professionals. Treatment for this condition varies based on the signs and symptoms present in each person. For ex... |
What are the symptoms of Autosomal dominant intermediate Charcot-Marie-Tooth disease type A ? | What are the signs and symptoms of Autosomal dominant intermediate Charcot-Marie-Tooth disease type A? The Human Phenotype Ontology provides the following list of signs and symptoms for Autosomal dominant intermediate Charcot-Marie-Tooth disease type A. If the information is available, the table below includes how ofte... |
What is (are) Peters plus syndrome ? | Peters plus syndrome is a genetic condition characterized by abnormalities of the front part of the eye called the anterior chamber, short stature, cleft lip with or without cleft palate, and distinctive facial features. The most common eye abnormality is Peters anomaly which involves the thinning and clouding of the ... |
What are the symptoms of Peters plus syndrome ? | What are the signs and symptoms of Peters plus syndrome? No formal diagnostic criteria have not been established for Peters plus syndrome. A clinical diagnosis is based on the presence of features. The following findings may be seen in individuals with Peters plus syndrome : Eye involvement: anomalies of the anterior c... |
What causes Peters plus syndrome ? | Is there anything that I might have done that could have caused or prevented Peters plus syndrome? No. Peters plus syndrome is genetic; therefore, there is nothing you or your partner could have done to cause or to prevent the syndrome. |
Is Peters plus syndrome inherited ? | How is Peters plus syndrome inherited? Peters plus syndrome is inherited in an autosomal recessive fashion, which means that an individual needs to inherit two disease-causing mutations of the B3GALTL gene-one from each parent-in order to have symptoms of the condition. Parents of individuals with the condition typical... |
How to diagnose Peters plus syndrome ? | Is there genetic testing available for Peters plus syndrome? Genetic testing is available for Peters plus syndrome. Click here to obtain a list of clinical laboratories offering genetic testing. Carrier testing for at-risk family members and prenatal diagnosis for pregnancies at increased risk are possible if the disea... |
What are the treatments for Peters plus syndrome ? | What treatment is available for Peters plus syndrome? Treatment varies from person to person and is based on the extent of the disease. Once a person has been diagnosed with Peters plus syndrome, the following evaluations are recommended : Eye examination Growth hormone testing Developmental assessment Heart examinatio... |
What are the symptoms of Spondylometaphyseal dysplasia Algerian type ? | What are the signs and symptoms of Spondylometaphyseal dysplasia Algerian type? The Human Phenotype Ontology provides the following list of signs and symptoms for Spondylometaphyseal dysplasia Algerian type. If the information is available, the table below includes how often the symptom is seen in people with this cond... |
What is (are) Amyotrophic lateral sclerosis ? | Amyotrophic lateral sclerosis (ALS), also referred to as "Lou Gehrig's disease," is a progressive motor neuron disease which leads to problems with muscle control and movement. There are various types of ALS, which are distinguished by their signs and symptoms and their cause. Early symptoms may include muscle twitchin... |
What are the symptoms of Amyotrophic lateral sclerosis ? | What are the signs and symptoms of Amyotrophic lateral sclerosis? The Human Phenotype Ontology provides the following list of signs and symptoms for Amyotrophic lateral sclerosis. 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 causes Amyotrophic lateral sclerosis ? | What causes amyotrophic lateral sclerosis? In approximately 90-95% of cases the cause of amyotrophic lateral sclerosis (ALS) is unknown and is sporadic (occurring in individuals with no history of the condition in the family). The remaining 5-10% of cases are genetic (familial), often occurring in individuals with a fa... |
Is Amyotrophic lateral sclerosis inherited ? | Is amyotrophic lateral sclerosis (ALS) inherited? About 90-95% percent of cases of ALS are not inherited and occur in individuals with no history of the condition in their family. The remaining 5-10% of cases are familial, and are thought to be caused by mutations in any one of several genes. The inheritance pattern as... |
How to diagnose Amyotrophic lateral sclerosis ? | Is genetic testing available for amyotrophic lateral sclerosis? Yes. Clinical genetic testing is currently available for several genes in which mutations are known to cause ALS. Genetic testing on a research basis is also available for select susceptibility genes associated with ALS. You can find laboratories offering ... |
What are the treatments for Amyotrophic lateral sclerosis ? | How might amyotrophic lateral sclerosis (ALS) be treated? The Food and Drug Administration (FDA) has approved the first drug treatment for the diseaseriluzole (Rilutek). Riluzole is believed to reduce damage to motor neurons by decreasing the release of glutamate. Clinical trials with ALS patients showed that riluzole ... |
What are the symptoms of Genu valgum, st Helena familial ? | What are the signs and symptoms of Genu valgum, st Helena familial? The Human Phenotype Ontology provides the following list of signs and symptoms for Genu valgum, st Helena familial. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the M... |
What is (are) Noonan-like syndrome with loose anagen hair ? | Noonan-like syndrome with loose anagen hair is characterized by facial features suggestive of Noonan syndrome (macrocephaly, high forehead, wide-set eyes or hypertelorism, palpebral ptosis, and low-set and posteriorly rotated ears) along with hair that resembles loose anagen hair syndrome (pluckable, sparse, thin and ... |
What are the symptoms of Noonan-like syndrome with loose anagen hair ? | What are the signs and symptoms of Noonan-like syndrome with loose anagen hair? The Human Phenotype Ontology provides the following list of signs and symptoms for Noonan-like syndrome with loose anagen hair. 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 Corneal dystrophy crystalline of Schnyder ? | What are the signs and symptoms of Corneal dystrophy crystalline of Schnyder? The Human Phenotype Ontology provides the following list of signs and symptoms for Corneal dystrophy crystalline of Schnyder. If the information is available, the table below includes how often the symptom is seen in people with this conditio... |
What is (are) Hydrops, Ectopic calcification, Moth-eaten skeletal dysplasia ? | HEM (hydrops fetalis, ectopic calcifications, "moth-eaten" skeletal dysplasia) is a very rare type of lethal skeletal dysplasia. According to the reported cases of HEM in the medical literature, the condition's main features are hydrops fetalis, dwarfism with severely shortened limbs and relatively normal-sized hands a... |
What are the symptoms of Hydrops, Ectopic calcification, Moth-eaten skeletal dysplasia ? | What are the signs and symptoms of Hydrops, Ectopic calcification, Moth-eaten skeletal dysplasia? The diagnostic findings of HEM (hydrops fetalis, severe micromelia, and ectopic calcification) have been present in all cases reported in the medical literature thus far. The following are several of the other signs and sy... |
What causes Hydrops, Ectopic calcification, Moth-eaten skeletal dysplasia ? | What causes HEM? HEM is associated with mutations (changes) in the lamin B receptor (LBR) gene located on chromosome 1, specifically at 1q42.1. Each person has two copies of the LBR gene - one inherited from mom and the other from dad. People who have two mutated copies of the LBR gene have HEM; thus, the condition is... |
How to diagnose Hydrops, Ectopic calcification, Moth-eaten skeletal dysplasia ? | How is HEM diagnosed? Establishing a diagnosis of HEM prenatally can be difficult and may require the interaction between a perinatologist, geneticist, and fetal/neonatal pathologist. Clinical examination, radiographs, genetic testing, and autopsy may be performed in order to establish a diagnosis of HEM. |
What is (are) Pyruvate dehydrogenase deficiency ? | Pyruvate dehydrogenase deficiency is metabolic disorder associated with abnormal function of the mitochondria in cells, thus depriving the body of energy. Progressive neurological symptoms usually start in infancy but may be evident at birth, or in later childhood; these symptoms may include developmental delay, interm... |
What are the symptoms of Pyruvate dehydrogenase deficiency ? | What are the signs and symptoms of Pyruvate dehydrogenase deficiency? Pyruvate dehydrogenase (PDH) deficiency can have a significant effect on fetal development, which may become apparent during late pregnancy with poor fetal weight gain and decreasing levels of estriol in the urine of the mother during pregnancy. Deli... |
What causes Pyruvate dehydrogenase deficiency ? | What causes pyruvate dehydrogenase deficiency? Pyruvate dehydrogenase (PDH) deficiency is usually caused by a deficiency of one or more enzymes or cofactors (such as thiamine) that are needed for an important chemical reaction in the cells of the body. These enzymes or cofactors are part of the pyruvate dehydrogenase c... |
Is Pyruvate dehydrogenase deficiency inherited ? | How is pyruvate dehydrogenase deficiency inherited? Pyruvate dehydrogenase deficiency is most commonly caused by mutations in the E1 alpha gene, which is located on the X chromosome (one of the sex chromosomes) and is typically inherited in an X-linked dominant manner. Dominant inheritance occurs when an abnormal gene ... |
How to diagnose Pyruvate dehydrogenase deficiency ? | Is genetic testing available for pyruvate dehydrogenase deficiency? Genetic testing is available for pyruvate dehydrogenase deficiency. GeneTests lists the names of laboratories that are performing genetic testing for pyruvate dehydrogenase deficiency. To view the contact information for the clinical laboratories condu... |
What are the treatments for Pyruvate dehydrogenase deficiency ? | How might pyruvate dehydrogenase deficiency be treated? Treatment of pyruvate dehydrogenase (PDH) deficiency rarely influences the course of the disease, but goals include stimulating the pyruvate dehydrogenase complex (PDHC), providing alternative sources of energy, and preventing immediate, acute worsening of the con... |
What are the symptoms of Deafness, epiphyseal dysplasia, short stature ? | What are the signs and symptoms of Deafness, epiphyseal dysplasia, short stature? The Human Phenotype Ontology provides the following list of signs and symptoms for Deafness, epiphyseal dysplasia, short stature. If the information is available, the table below includes how often the symptom is seen in people with this ... |
What are the symptoms of Chromosome 8p23.1 deletion ? | What are the signs and symptoms of Chromosome 8p23.1 deletion? The Human Phenotype Ontology provides the following list of signs and symptoms for Chromosome 8p23.1 deletion. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus... |
What is (are) Gordon syndrome ? | Gordon Syndrome is a rare, inherited type of distal arthrogryposis typically characterized by a combination of camptodactyly (a permanent fixation of several fingers in a flexed position), clubfoot (abnormal bending inward of the foot), and less frequently, cleft palate. Intelligence is usually normal. In some cases, a... |
What are the symptoms of Gordon syndrome ? | What are the signs and symptoms of Gordon syndrome? Gordon syndrome belongs to a group of conditions known as the distal arthrogryposes, which are characterized by stiffness and impaired mobility of certain joints of the lower arms and legs including the wrists, elbows, knees and/or ankles. The range and severity of fe... |
Is Gordon syndrome inherited ? | How is Gordon syndrome inherited? While some reports suggest Gordon syndrome may be inherited in an X-linked dominant manner, most agree that it is inherited in an autosomal dominant manner with reduced expressivity and incomplete penetrance in females. In autosomal dominant inheritance, having only one mutated copy of... |
What is (are) Familial HDL deficiency ? | null |
What are the symptoms of Familial HDL deficiency ? | What are the signs and symptoms of Familial HDL deficiency? The Human Phenotype Ontology provides the following list of signs and symptoms for Familial HDL 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 MedlinePlus Medic... |
What are the symptoms of Charcot-Marie-Tooth disease type 2G ? | What are the signs and symptoms of Charcot-Marie-Tooth disease type 2G? The Human Phenotype Ontology provides the following list of signs and symptoms for Charcot-Marie-Tooth disease type 2G. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can u... |
What are the symptoms of Nelson syndrome ? | What are the signs and symptoms of Nelson syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Nelson syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to... |
What are the symptoms of Copper deficiency, familial benign ? | What are the signs and symptoms of Copper deficiency, familial benign? The Human Phenotype Ontology provides the following list of signs and symptoms for Copper deficiency, familial benign. 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) Diffuse gastric cancer ? | Diffuse gastric cancer or signet ring cell cancer is a type of cancer found most often in the glandular cells lining the stomach, but can also develop in the bowel, breast, pancreas, bladder, prostate or lung. The 2010 WHO (World Health Organization) classification recognizes four major histologic patterns of gastric c... |
What are the symptoms of Diffuse gastric cancer ? | What are the signs and symptoms of Diffuse gastric cancer? Signs and symptoms of gastric cancer may include indigestion, stomach discomfort, bloating, mild nausea, loss of appetite, and heartburn. In more advanced stages of gastric cancer signs and symptoms may include bloody stool, vomiting, weight loss, stomach pain,... |
What causes Diffuse gastric cancer ? | Can diffuse gastric cancer be caused by excessive drinking? Most of the time the exact cause of gastric cancer can not be determined; however there are many different factors that may put someone at an increased risk for developing stomach cancer. While it isn't clear if alcohol alone can increase this risk, it is thou... |
Is Diffuse gastric cancer inherited ? | Can diffuse gastric cancer be inherited? Diffuse gastric cancer can be inherited or can happen sporadically in a family. Sporadic means that the cancer occurred randomly for the first time in a individual and was not inherited from a parent. Hereditary diffuse gastric cancer (HDGC) is caused by mutations in the CDH1 ge... |
What is (are) Tracheobronchomalacia ? | Tracheobronchomalacia (TBM) is a rare condition that occurs when the walls of the airway (specifically the trachea and bronchi) are weak. This can cause the airway to become narrow or collapse. There are two forms of TBM: a congenital form (called primary TBM) that typically develops during infancy or early childhood a... |
What are the symptoms of Tracheobronchomalacia ? | What are the signs and symptoms of tracheobronchomalacia? Tracheobronchomalacia (TBM) is a condition that occurs when the walls of the airway (specifically the trachea and bronchi) are weak. This can cause the airway to become narrow or collapse. There are two forms of TBM. Primary TBM (also called congenital TBM) typi... |
What causes Tracheobronchomalacia ? | What causes tracheobronchomalacia? The underlying cause of tracheobronchomalacia (TBM) varies by subtype. Most cases of primary TBM (also called congenital TBM) are caused by genetic conditions that weaken the walls of the airway (specifically the trachea and bronchi). For example, TBM has been reported in people with ... |
Is Tracheobronchomalacia inherited ? | Is tracheobronchomalacia inherited? Primary tracheobronchomalacia (TBM) is often associated with certain genetic conditions. In some cases, an affected person inherits the condition from an affected parent. Other cases may result from new (de novo) gene mutations. These cases occur in people with no history of the diso... |
How to diagnose Tracheobronchomalacia ? | How is tracheobronchomalacia diagnosed? A diagnosis of tracheobronchomalacia (TBM) may be suspected based on the presence of characteristic signs and symptoms or abnormal pulmonary function tests. Additional testing such as CT scan and bronchoscopy can then be performed to confirm the diagnosis and evaluate the severit... |
What are the treatments for Tracheobronchomalacia ? | How might tracheobronchomalacia be treated? Treatment is only medically necessary in people who have signs and symptoms of tracheobronchomalacia (TBM). Management of symptomatic TBM first involves identifying underlying conditions contributing to symptoms, such as chronic inflammation, compression, or injury. Initial t... |
What are the symptoms of Aniridia absent patella ? | What are the signs and symptoms of Aniridia absent patella? The Human Phenotype Ontology provides the following list of signs and symptoms for Aniridia absent patella. 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 are the symptoms of Dandy-Walker like malformation with atrioventricular septal defect ? | What are the signs and symptoms of Dandy-Walker like malformation with atrioventricular septal defect? The Human Phenotype Ontology provides the following list of signs and symptoms for Dandy-Walker like malformation with atrioventricular septal defect. If the information is available, the table below includes how ofte... |
What is (are) Reactive arthritis ? | Reactive arthritis is a type of infectious arthritis that occurs as a reaction to an infection elsewhere in the body. This process may occur weeks or even months after the infection has resolved. In addition to joint inflammation, reactive arthritis is associated with two other symptoms: redness and inflammation of the... |
What are the symptoms of Reactive arthritis ? | What are the signs and symptoms of Reactive arthritis? The Human Phenotype Ontology provides the following list of signs and symptoms for Reactive arthritis. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Diction... |
What is (are) Alpha-1 antitrypsin deficiency ? | Alpha-1 antitrypsin deficiency (AATD) is a disorder that causes a deficiency or absence of the alpha-1 antitrypsin (AAT) protein in the blood. AAT is made in the liver and sent through the bloodstream to the lungs, to protect the lungs from damage. Having low levels of ATT (or no ATT) can allow the lungs to become dama... |
What are the symptoms of Alpha-1 antitrypsin deficiency ? | What are the signs and symptoms of Alpha-1 antitrypsin deficiency? The Human Phenotype Ontology provides the following list of signs and symptoms for Alpha-1 antitrypsin 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 Med... |
What causes Alpha-1 antitrypsin deficiency ? | What causes alpha-1 antitrypsin deficiency? Alpha-1 antitrypsin deficiency (AATD) is caused by mutations in the SERPINA1 gene. This gene gives the body instructions to make a protein called alpha-1 antitrypsin (AAT), which protects the body from an enzyme called neutrophil elastase. Neutrophil elastase helps the body f... |
How to diagnose Alpha-1 antitrypsin deficiency ? | How is alpha-1 antitrypsin deficiency diagnosed? Alpha-1 antitrypsin deficiency (AATD) may first be suspected in people with evidence of liver disease at any age, or lung disease (such as emphysema), especially when there is no obvious cause or it is diagnosed at a younger age. Confirming the diagnosis involves a blood... |
What are the treatments for Alpha-1 antitrypsin deficiency ? | How might alpha-1 antitrypsin deficiency be treated? Treatment of alpha-1 antitrypsin deficiency (AATD) depends on the symptoms and severity in each person. COPD and other related lung diseases are typically treated with standard therapy. Bronchodilators and inhaled steroids can help open the airways and make breathing... |
What are the symptoms of Uropathy distal obstructive polydactyly ? | What are the signs and symptoms of Uropathy distal obstructive polydactyly? The Human Phenotype Ontology provides the following list of signs and symptoms for Uropathy distal obstructive polydactyly. If the information is available, the table below includes how often the symptom is seen in people with this condition. Y... |
What is (are) Chromosome 3p- syndrome ? | Chromosome 3p- syndrome is a rare chromosome abnormality that occurs when there is a missing copy of the genetic material located towards the end of the short arm (p) of chromosome 3. The severity of the condition and the signs and symptoms depend on the exact size and location of the deletion and which genes are invol... |
What are the symptoms of Chromosome 3p- syndrome ? | What are the signs and symptoms of Chromosome 3p- syndrome? The signs and symptoms of chromosome 3p- syndrome and the severity of the condition depend on the exact size and location of the deletion and which genes are involved. Some affected people appear to have no features or mild features, while others are more seve... |
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