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What is (are) Medullary Sponge Kidney ? | Medullary sponge kidney, also known as Cacchi-Ricci disease, is a birth defect where changes occur in the tubules, or tiny tubes, inside a fetus kidneys.
In a normal kidney, urine flows through these tubules as the kidney is being formed during a fetus growth. In medullary sponge kidney, tiny, fluid-fi... | [
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What are the treatments for Weissenbacher-Zweymller syndrome ? | These resources address the diagnosis or management of Weissenbacher-Zweymller syndrome: - Genetic Testing Registry: Weissenbacher-Zweymuller syndrome These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and... | [
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What is (are) Autoimmune hemolytic anemia ? | Autoimmune hemolytic anemia (AIHA) occurs when your immune system makes antibodies that attack your red blood cells. This causes a drop in the number of red blood cells, leading to hemolytic anemia. Symptoms may include unusual weakness and fatigue with tachycardia and breathing difficulties, jaundice, dark urine and/o... | [
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What is (are) Ehlers-Danlos syndrome, dermatosparaxis type ? | Ehlers-Danlos syndrome (EDS), dermatosparaxis type is an inherited connective tissue disorder that is caused by defects in a protein called collagen. Common symptoms include soft, doughy skin that is extremely fragile; saggy, redundant skin, especially on the face; hernias; and mild to severe joint hypermobility. EDS, ... | [
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What are the treatments for lymphedema-distichiasis syndrome ? | These resources address the diagnosis or management of lymphedema-distichiasis syndrome: - Gene Review: Gene Review: Lymphedema-Distichiasis Syndrome - Genetic Testing Registry: Distichiasis-lymphedema syndrome - MedlinePlus Encyclopedia: Lymph System These resources from MedlinePlus offer information about the di... | [
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How many people are affected by hypercholesterolemia ? | More than 34 million American adults have elevated blood cholesterol levels (higher than 240 mg/dL). Inherited forms of hypercholesterolemia, which cause even higher levels of cholesterol, occur less frequently. The most common inherited form of high cholesterol is called familial hypercholesterolemia. This condition a... | [
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How many people are affected by late-infantile neuronal ceroid lipofuscinosis ? | The prevalence of late-infantile NCL is unknown. Collectively, all forms of NCL affect an estimated 1 in 100,000 individuals worldwide. NCLs are more common in Finland, where approximately 1 in 12,500 individuals are affected. | [
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What are the symptoms of Fibrous dysplasia ? | What are the symptoms of fibrous dysplasia? Fibrous dysplasia may cause no symptoms, mild symptoms, or severe symptoms. The most common symptoms are bone pain, bone deformities, fractures, and skin pigmentation differences (light brown spots on the skin). The problems that a person experiences depend on the specific bo... | [
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Is hemophilia inherited ? | Hemophilia A and hemophilia B are inherited in an X-linked recessive pattern. The genes associated with these conditions are located on the X chromosome, which is one of the two sex chromosomes. In males (who have only one X chromosome), one altered copy of the gene in each cell is sufficient to cause the condition. In... | [
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What are the symptoms of Syringoma ? | What are the signs and symptoms of Syringoma? The Human Phenotype Ontology provides the following list of signs and symptoms for Syringoma. 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... | [
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What are the symptoms of Jervell and Lange-Nielsen syndrome 2 ? | What are the signs and symptoms of Jervell and Lange-Nielsen syndrome 2? The Human Phenotype Ontology provides the following list of signs and symptoms for Jervell and Lange-Nielsen syndrome 2. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can... | [
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What are the symptoms of Fukuyama type muscular dystrophy ? | What are the signs and symptoms of Fukuyama type muscular dystrophy? The Human Phenotype Ontology provides the following list of signs and symptoms for Fukuyama type muscular dystrophy. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the... | [
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What is (are) ALG6-congenital disorder of glycosylation ? | ALG6-congenital disorder of glycosylation (ALG6-CDG, also known as congenital disorder of glycosylation type Ic) is an inherited condition that affects many parts of the body. The signs and symptoms of ALG6-CDG vary widely among people with the condition. Individuals with ALG6-CDG typically develop signs and symptoms ... | [
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What are the symptoms of Bartter syndrome ? | What are the signs and symptoms of Bartter syndrome? The signs and symptoms associated with Bartter syndrome can vary depending on the form of Bartter syndrome an affected individual has. The antenatal forms (beginning before birth) can be life-threatening, while the classical form, beginning in early childhood, tends ... | [
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What is (are) giant axonal neuropathy ? | Giant axonal neuropathy is an inherited condition involving dysfunction of a specific type of protein in nerve cells (neurons). The protein is essential for normal nerve function because it forms neurofilaments. Neurofilaments make up a structural framework that helps to define the shape and size of the neurons. This c... | [
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What is the outlook for Childhood Soft Tissue Sarcoma ? | Certain factors affect prognosis (chance of recovery) and treatment options. The prognosis (chance of recovery) and treatment options depend on the following: - The part of the body where the tumor first formed. - The size and grade of the tumor. - The type of soft tissue sarcoma. - How deep the tumor ... | [
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What are the symptoms of Dihydropteridine reductase deficiency ? | What are the signs and symptoms of Dihydropteridine reductase deficiency? The Human Phenotype Ontology provides the following list of signs and symptoms for Dihydropteridine reductase deficiency. 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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What are the symptoms of Refsum disease, infantile form ? | What are the signs and symptoms of Refsum disease, infantile form? The Human Phenotype Ontology provides the following list of signs and symptoms for Refsum disease, infantile form. 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... | [
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Is erythromelalgia inherited ? | Some cases of erythromelalgia occur in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In some of these instances, an affected person inherits the mutation from one affected parent. Other cases result from new mutations in the gene and occur in p... | [
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What is (are) Stroke ? | Stroke -- A Serious Event A stroke is serious, just like a heart attack. Each year in the United States, approximately 795,000 people have a stroke. About 610,000 of these are first or new strokes. On average, one American dies from stroke every four minutes. Stroke is the fourth leading cause of death in the United St... | [
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How to diagnose Madelung disease ? | How is Madelung disease diagnosed? Madelung disease is usually diagnosed based on a thorough physical exam, accurate medical history, and imaging studies - computed tomography (CT scan) and/or magnetic resonance imaging (MRI scan). A CT scan is an imaging method that uses x-rays to create pictures of cross-sections of ... | [
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What are the treatments for Cystocele ? | Cystocele treatment depends on the severity of the cystocele and whether a woman has symptoms. If a womans cystocele does not bother her, a health care provider may recommend only that she avoid heavy lifting or straining, which could worsen her cystocele. If a woman has symptoms that bother her and wants treatment, th... | [
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What are the symptoms of Hypothyroidism ? | Hypothyroidism has many symptoms that can vary from person to person. Some common symptoms of hypothyroidism are
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What causes Factor V deficiency ? | What causes factor V deficiency? Factor V deficiency is caused by mutations in the F5 gene that prevent the production of a functional factor V protein or decrease the amount of the protein in the bloodstream. Mutations are present in both copies of the F5 gene in each cell, which prevents blood from clotting normally. | [
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What is (are) Long QT syndrome 1 ? | Romano-Ward syndrome is the most common form of inherited long QT syndrome. Symptoms include arrhythmia, fainting, cardiac arrest, and sudden death. There are six different types of this syndrome, long QT 1 through 6. Each type is caused by a change in a different gene. The most prevalent form of long QT syndrome is lo... | [
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What are the treatments for X-linked congenital stationary night blindness ? | These resources address the diagnosis or management of X-linked congenital stationary night blindness: - American Optometric Association: Infant Vision - Gene Review: Gene Review: X-Linked Congenital Stationary Night Blindness - Genetic Testing Registry: Congenital stationary night blindness - Genetic Testing Regis... | [
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What causes High Blood Cholesterol ? | Many factors can affect the cholesterol levels in your blood. You can control some factors, but not others.
Factors You Can Control
Diet
Cholesterol is found in foods that come from animal sources, such as egg yolks, meat, and cheese. Some foods have fats that raise yo... | [
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What is (are) Male Breast Cancer ? | Key Points
- Male breast cancer is a disease in which malignant (cancer) cells form in the tissues of the breast. - Radiation exposure, high levels of estrogen, and a family history of breast cancer can increase a mans risk of breast cancer. - Male breast cancer is sometimes caused by inherit... | [
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What is (are) Leukemia ? | Radiation therapy is a cancer treatment that uses high-energy x-rays to destroy cancer cells. Some patients receive radiation treatment that is directed at the whole body. | [
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What causes Congenital contractural arachnodactyly ? | What causes congenital contractural arachnodactyly? Congenital contractural arachnodactyly is caused by mutations in the FBN2 gene. The FBN2 gene provides instructions for producing the fibrillin-2 protein. Fibrillin-2 binds to other proteins and molecules to form threadlike filaments called microfibrils. Microfibrils ... | [
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How many people are affected by tyrosine hydroxylase deficiency ? | The prevalence of TH deficiency is unknown. | [
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What are the genetic changes related to familial restrictive cardiomyopathy ? | Mutations in several genes have been found to cause familial restrictive cardiomyopathy. Mutations in the TNNI3 gene are one of the major causes of this condition. The TNNI3 gene provides instructions for making a protein called cardiac troponin I, which is found solely in the heart. Cardiac troponin I is one of three ... | [
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What is the outlook for Krabbe Disease ? | Krabbe disease in infants is generally fatal before age 2. Individuals with a later onset form of the disease generally have a milder course of the disease and live significantly longer. | [
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What are the treatments for alveolar capillary dysplasia with misalignment of pulmonary veins ? | These resources address the diagnosis or management of ACD/MPV: - Genetic Testing Registry: Alveolar capillary dysplasia with misalignment of pulmonary veins - MedlinePlus Encyclopedia: Alveolar Abnormalities These resources from MedlinePlus offer information about the diagnosis and management of various health con... | [
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What are the symptoms of Proximal chromosome 18q deletion syndrome ? | What are the signs and symptoms of Proximal chromosome 18q deletion syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Proximal chromosome 18q deletion syndrome. If the information is available, the table below includes how often the symptom is seen in people with this conditio... | [
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What is (are) Progressive bulbar palsy ? | Progressive bulbar palsy involves the brain stem. The brain stem is the part of the brain needed for swallowing, speaking, chewing, and other functions. Signs and symptoms of progressive bulbar palsy include difficulty swallowing, weak jaw and facial muscles, progressive loss of speech, and weakening of the tongue. Add... | [
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What are the genetic changes related to congenital insensitivity to pain with anhidrosis ? | Mutations in the NTRK1 gene cause CIPA. The NTRK1 gene provides instructions for making a receptor protein that attaches (binds) to another protein called NGF. The NTRK1 receptor is important for the survival of nerve cells (neurons). The NTRK1 receptor is found on the surface of cells, particularly neurons that trans... | [
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How many people are affected by Dandy-Walker malformation ? | Dandy-Walker malformation is estimated to affect 1 in 10,000 to 30,000 newborns. | [
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What are the symptoms of Osteoarthritis ? | Pain and Stiffness in Joints Different types of arthritis have different symptoms. In general, people with most forms of arthritis have pain and stiffness in their joints. Osteoarthritis usually develops slowly and can occur in any joint, but often occurs in weight-bearing joints. Early in the disease, joints may ache ... | [
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What are the treatments for Acromegaly ? | Currently, treatment options include surgical removal of the tumor, medical therapy, and radiation therapy of the pituitary.
Goals of treatment are to
- reduce excess hormone production to normal levels - relieve the pressure that the growing pituitary tumor may be exerting on the sur... | [
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How to diagnose Adult Hodgkin Lymphoma ? | Tests that examine the lymph nodes are used to detect (find) and diagnose adult Hodgkin lymphoma. The following tests and procedures may be used: - Physical exam and history : An exam of the body to check general signs of health, including checking for signs of disease, such as lumps or anything else that see... | [
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What are the symptoms of VACTERL association ? | What are the signs and symptoms of VACTERL association? The Human Phenotype Ontology provides the following list of signs and symptoms for VACTERL association. 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... | [
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What is (are) Colonic Polyps ? | A polyp is an extra piece of tissue that grows inside your body. Colonic polyps grow in the large intestine, or colon. Most polyps are not dangerous. However, some polyps may turn into cancer or already be cancer. To be safe, doctors remove polyps and test them. Polyps can be removed when a doctor examines the inside o... | [
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What are the treatments for branchiootorenal/branchiootic syndrome ? | These resources address the diagnosis or management of branchiootorenal/branchiootic syndrome: - Gene Review: Gene Review: Branchiootorenal Spectrum Disorders - Genetic Testing Registry: Branchiootic syndrome - Genetic Testing Registry: Branchiootic syndrome 2 - Genetic Testing Registry: Branchiootic syndrome 3 - ... | [
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What is (are) Hyperthyroidism ? | The thyroid is a 2-inch-long, butterfly-shaped gland weighing less than 1 ounce. Located in the front of the neck below the larynx, or voice box, it has two lobes, one on each side of the windpipe. The thyroid is one of the glands that make up the endocrine system. The glands of the endocrine system produce, store, and... | [
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What are the symptoms of Behcet's disease ? | What are the signs and symptoms of Behcet's disease? Symptoms of Behcet's disease include recurrent ulcers in the mouth (resembling canker sores) and on the genitals, and eye inflammation (uveitis). The disorder may also cause various types of skin lesions, arthritis, bowel inflammation, meningitis (inflammation of the... | [
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What causes Ollier disease ? | What causes Ollier disease? The exact cause of Ollier disease is not known. It is usually a sporadic, non-familial disorder, however, in some cases, it may be inherited as an autosomal dominant genetic trait. | [
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What is (are) Refsum disease ? | Refsum disease is an inherited condition that causes vision loss, absence of the sense of smell (anosmia), and a variety of other signs and symptoms. The vision loss associated with Refsum disease is caused by an eye disorder called retinitis pigmentosa. This disorder affects the retina, the light-sensitive layer at t... | [
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Who is at risk for Sudden Cardiac Arrest? ? | The risk of sudden cardiac arrest (SCA) increases:
With age
If you are a man. Men are more likely than women to have SCA.
Some studies show that blacksparticularly those with underlying conditions such as diabetes, high blood pressure, heart failure, and chronic kidney... | [
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How to diagnose 21-hydroxylase deficiency ? | Is genetic testing for 21-hydroxylase-deficient congenital adrenal hyperplasia available? Yes. Genetic testing of 21-hydroxylase-deficient congenital adrenal hyperplasia is available. In most people with this condition, the genetic test result can be used to predict disease severity. Click here to view a list of labora... | [
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What is (are) familial lipoprotein lipase deficiency ? | Familial lipoprotein lipase deficiency is an inherited condition that disrupts the normal breakdown of fats in the body, resulting in an increase of certain kinds of fats. People with familial lipoprotein lipase deficiency typically develop signs and symptoms before age 10, with one-quarter showing symptoms by age 1. ... | [
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What is (are) Glucose transporter type 1 deficiency syndrome ? | Glucose transporter type 1 deficiency syndrome (GLUT1 deficiency syndrome) is an inherited condition that affects the nervous system. Signs and symptoms generally develop within the first few months of life and may include recurrent seizures (epilepsy) and involuntary eye movements. Affected people may also have microc... | [
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What is (are) Parasites - Cysticercosis ? | Cysticercosis is an infection caused by the larvae of the parasite Taenia solium. This infection occurs after a person swallows tapeworm eggs. The larvae get into tissues such as muscle and brain, and form cysts there (these are called cysticerci). When cysts are found in the brain, the condition is called neurocystic... | [
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Is hypophosphatasia inherited ? | The severe forms of hypophosphatasia that appear early in life are inherited in an autosomal recessive pattern. Autosomal recessive inheritance means that two copies of the gene in each cell are altered. Most often, the parents of an individual with an autosomal recessive disorder each carry one copy of the altered gen... | [
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How many people are affected by Prolactinoma ? | Although small benign pituitary tumors are fairly common in the general population, symptomatic prolactinomas are uncommon. Prolactinomas occur more often in women than men and rarely occur in children. | [
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What are the treatments for chronic granulomatous disease ? | These resources address the diagnosis or management of chronic granulomatous disease: - American Academy of Allergy, Asthma, and Immunology - Gene Review: Gene Review: Chronic Granulomatous Disease - Genetic Testing Registry: Chronic granulomatous disease, X-linked - Genetic Testing Registry: Chronic granulomatous ... | [
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what research (or clinical trials) is being done for Post-Polio Syndrome ? | The National Institute of Neurological Disorders and Stroke (NINDS) and other institutes of the National Institutes of Health (NIH) conduct research related to PPS in laboratories at the NIH, and also support additional PPS research through grants to major medical institutions across the country. | [
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What is the outlook for Absence of the Septum Pellucidum ? | When the absence of the septum pellucidum is part of septo-optic dysplasia, the prognosis varies according to the presence and severity of associated symptoms. By itself, absence of the septum pellucidum is not life-threatening. | [
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Do you have information about Motor Vehicle Safety | Summary : Every year thousands of people in the U.S. die from motor vehicle crashes. Trying to prevent these crashes is one part of motor vehicle safety. Here are some things you can do to be safer on the road: - Make sure your vehicle is safe and in working order - Use car seats for children - Wear your... | [
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What is (are) Isolated levocardia ? | Isolated levocardia is a type of situs inversus where the heart is located in the normal position, but there is a mirror-image reversal of other internal organs. Isolated levocardia may occur alone or with heart defects, heart rhythm abnormalities (sick sinus syndrome or atrioventricular node disorder), spleen defects ... | [
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What are the genetic changes related to erythrokeratodermia variabilis et progressiva ? | EKVP can be caused by mutations in the GJB3 or GJB4 gene. These genes provide instructions for making proteins called connexin 31 and connexin 30.3, respectively. These proteins are part of the connexin family, a group of proteins that form channels called gap junctions on the surface of cells. Gap junctions open and c... | [
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Is Rheumatic Fever inherited ? | Is rheumatic fever inherited? Rheumatic fever is likely inherited in a multifactorial manner, which means it is caused by multiple genes interacting with each other and with environmental factors. The condition is thought to occur in genetically susceptible children who are infected with group A Streptococcus bacteria ... | [
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What is (are) Colorectal Cancer ? | Key Points
- Colorectal cancer is a disease in which malignant (cancer) cells form in the tissues of the colon or the rectum. - Colorectal cancer is the second leading cause of death from cancer in the United States. - Different factors increase or decrease the risk of getting colorectal can... | [
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What is (are) Syncope ? | Syncope is a medical term used to describe a temporary loss of consciousness due to the sudden decline of blood flow to the brain. Syncope is commonly called fainting or passing out. If an individual is about to faint, he or she will feel dizzy, lightheaded, or nauseous and their field of vision may white out or black ... | [
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What causes Stevens-Johnson syndrome ? | What causes Stevens-Johnson syndrome? The exact cause of Stevens-Johnson syndrome is unknown in 25 to 30% of cases. In those cases in which the cause can be determined, it is believed to be related to an adverse allergic drug reaction. Almost any drug--but most particularly sulfa drugs--can cause Stevens-Johnson syndro... | [
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Is fragile X-associated primary ovarian insufficiency inherited ? | An increased risk of developing FXPOI is inherited in an X-linked dominant pattern. The FMR1 gene is located on the X chromosome, which is one of the two sex chromosomes. (The Y chromosome is the other sex chromosome.) The inheritance is dominant because one copy of the altered gene in each cell is sufficient to elevat... | [
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