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These resources address the diagnosis or management of adiposis dolorosa: - Genetic Testing Registry: Lipomatosis dolorosa - Merck Manual Consumer Version: Lipomas These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy ...
What causes Coffin-Siris syndrome? Coffin-Siris syndrome is caused by a change (mutation) in either the ARID1A, ARID1B, SMARCA4, SMARCB1, or SMARCE1 gene. Exactly how these gene mutations result in the symptoms of Coffin-Siris syndrome is not known, however it is thought that the mutations affect how genetic material i...
Fumarase deficiency is a condition that primarily affects the nervous system, especially the brain. Affected infants may have an abnormally small head size (microcephaly), abnormal brain structure, severe developmental delay, weak muscle tone (hypotonia), and failure to gain weight and grow at the expected rate (failur...
Families may benefit from meeting with a dietitian to learn how dietary management can help in preventing stones. Depending on the underlying cause of the stone formation, medications may be necessary to prevent recurrent stones. Dietary changes and medications may be required for a long term or, quite often, for life....
CADASIL (Cerebral Autosomal Dominant Arteriopathy with Sub-cortical Infarcts and Leukoencephalopathy) is an inherited form of cerebrovascular disease that occurs when the thickening of blood vessel walls blocks the flow of blood to the brain. The disease primarily affects small blood vessels in the white matter of the ...
How is autosomal dominant nocturnal frontal lobe epilepsy diagnosed? The diagnosis of autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE) is made on clinical grounds. The key to diagnosis is a detailed history from the affected person, as well as witnesses. Sometimes video-EEG monitoring is necessary. The featu...
Hypochromic microcytic anemia with iron overload is a condition that impairs the normal transport of iron in cells. Iron is an essential component of hemoglobin, which is the substance that red blood cells use to carry oxygen to cells and tissues throughout the body. In this condition, red blood cells cannot access iro...
What are the signs and symptoms of X-linked congenital stationary night blindness? The Human Phenotype Ontology provides the following list of signs and symptoms for X-linked congenital stationary night blindness. If the information is available, the table below includes how often the symptom is seen in people with thi...
How is abetalipoproteinemia inherited? Abetalipoproteinemia 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, who is referred to as a car...
Lactose * intestine lactase , enzyme *See the Pronunciation Guide for tips on how to say the words in bold type.
Varicose veins are swollen, twisted veins that you can see just under the skin. They usually occur in the legs, but also can form in other parts of the body. Hemorrhoids are a type of varicose vein. Your veins have one-way valves that help keep blood flowing toward your heart. If the valves are weak or damaged, bloo...
Optic neuritis is inflammation of the optic nerve, the nerve that carries the visual signal from the eye to the brain. The condition may cause sudden, reduced vision in the affected eye(s). While the cause of optic neuritis is unknown, it has been associated with autoimmune diseases, infections, multiple sclerosis, dru...
Methylcobalamin deficiency cbl G type is a rare condition that occurs when the body is unable to process certain amino acids (building blocks of protein) properly. In most cases, signs and symptoms develop during the first year of life; however, the age of onset can range from infancy to adulthood. Common features of t...
How is protein C deficiency diagnosed? A diagnosis of protein C deficiency might be suspected in someone with a deep venous thrombosis (DVT) or a pulmonary embolism, especially if it occurs in a relatively young person (less than 50 years old) or has formed in an unusual location, such as the veins leading to the liver...
Molybdenum cofactor deficiency has an autosomal recessive pattern of inheritance, which means both copies of the gene in each cell have mutations. An affected individual usually inherits one altered copy of the gene from each parent. Parents of an individual with an autosomal recessive condition typically do not show s...
These resources address the diagnosis or management of desmoid tumor: - Dana-Farber Cancer Institute - Desmoid Tumor Research Foundation: About Desmoid Tumors - Genetic Testing Registry: Desmoid disease, hereditary These resources from MedlinePlus offer information about the diagnosis and management of various hea...
Childhood nephrotic syndrome is not a disease in itself; rather, it is a group of symptoms that - indicate kidney damageparticularly damage to the glomeruli, the tiny units within the kidney where blood is filtered - result in the release of too much protein from the body into the urine ...
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...
Research supported by the NINDS includes studies to understand how the brain and nervous system normally develop. These studies contribute to a greater understanding of neural tube disorders, such as anencephaly, and open promising new avenues to treat and prevent neurological birth defects.
Sturge-Weber syndrome is a neurological disorder indicated at birth by a port-wine stain birthmark on the forehead and upper eyelid of one side of the face. The birthmark can vary in color from light pink to deep purple and is caused by an overabundance of capillaries around the trigeminal nerve just beneath the surfac...
Rett syndrome is a childhood neurodevelopmental disorder that affects females almost exclusively. The child generally appears to grow and develop normally, before symptoms begin. Loss of muscle tone is usually the first symptom. Other early symptoms may include a slowing of development, problems crawling or walking, an...
Certain factors affect prognosis (chance of recovery) and treatment options. The prognosis (chance of recovery) and treatment options depend on: - The type of tumor and where it is in the brain. - Whether the cancer has spread within the brain and spinal cord when the tumor is found. - The age of the ch...
Amish lethal microcephaly is a disorder in which infants are born with a very small head and underdeveloped brain. Infants with Amish lethal microcephaly have a sloping forehead and an extremely small head size. They may also have an unusually small lower jaw and chin (micrognathia) and an enlarged liver (hepatomegaly...
7q11.23 duplication syndrome results from an extra copy of a region on the long (q) arm of chromosome 7 in each cell. This region is called the Williams-Beuren syndrome critical region (WBSCR) because its deletion causes a different disorder called Williams syndrome, also known as Williams-Beuren syndrome. The region, ...
What are the signs and symptoms of Alopecia totalis? The Human Phenotype Ontology provides the following list of signs and symptoms for Alopecia totalis. 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 ...
This condition is inherited in an X-linked recessive pattern. The gene associated with this condition is 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 females (who have t...
Anemia of inflammation and chronic disease often is not treated separately from the condition with which it occurs. In general, health care providers focus on treating the underlying illness. If this treatment is successful, the anemia usually resolves. For example, antibiotics prescribed for infection and anti-inflamm...
How might neutral lipid storage disease with myopathy be treated? To date, there is no treatment for the underlying metabolic problem. Current therapies include adhering to strict dietary guidelines and utilizing treatments focused on the associated symptoms. A recent study suggests that people with this condition may ...
This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In about 50 percent of cases, an affected person inherits the mutation from one affected parent. Other cases result from new mutations in the gene and occur in people ...
These resources address the diagnosis or management of Coffin-Siris syndrome: - Gene Review: Gene Review: Coffin-Siris Syndrome - Genetic Testing Registry: Coffin-Siris syndrome These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests -...
This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.
This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.
Summary : Folic acid is a B vitamin. It helps the body make healthy new cells. Everyone needs folic acid. For women who may get pregnant, it is really important. Getting enough folic acid before and during pregnancy can prevent major birth defects of her baby's brain or spine. Foods with folic acid in them include ...
Ollier disease is estimated to occur in 1 in 100,000 people.
Ataxia-telangiectasia occurs in 1 in 40,000 to 100,000 people worldwide.
Wagner syndrome is a hereditary disorder that causes progressive vision loss. The eye problems that lead to vision loss typically begin in childhood, although the vision impairment might not be immediately apparent. In people with Wagner syndrome, the light-sensitive tissue that lines the back of the eye (the retina) ...
The kidneys are two bean-shaped organs, each about the size of a fist. They are located just below the rib cage, one on each side of the spine. Every day, the two kidneys filter about 120 to 150 quarts of blood to produce about 1 to 2 quarts of urine, composed of wastes and extra fluid. The urine flows from the kidneys...
Tetra-amelia syndrome has been reported in only a few families worldwide.
Of patients who undergo abdominal surgery, 93 percent develop abdominal adhesions.1 Surgery in the lower abdomen and pelvis, including bowel and gynecological operations, carries an even greater chance of abdominal adhesions. Abdominal adhesions can become larger and tighter as time passes, sometimes causing problems y...
An ovarian sex cord tumor with annular tubules (SCTAT) is a tumor that grows from cells in the ovaries known as sex cord cells. As these cells grow, they form tube-like shapes in the tumor. SCTATs can develop in one or both ovaries, and may cause symptoms such as puberty at an exceptionally young age (precocious pube...
The National Institute of Neurological Disorders and Stroke (NINDS) conducts research in its laboratories at the National Institutes of Health (NIH) and also supports additional research through grants to major medical institutions across the country. As part of the Childrens Health Act of 2000, the NINDS and three sis...
Summary : A kidney transplant is an operation that places a healthy kidney in your body. The transplanted kidney takes over the work of the two kidneys that failed, so you no longer need dialysis. During a transplant, the surgeon places the new kidney in your lower abdomen and connects the artery and vein of the ne...
How might tumor necrosis factor receptor-associated periodic syndrome (TRAPS) be treated? While there is no proven treatment for TRAPS, non steroidal anti-inflammatory drugs (NSAIDS) may be used to relieve symptoms of fever, and corticosteroids may be used to reduce severity of symptoms in most people. However, these m...
18q deletion syndrome is caused by a deletion of genetic material from the long (q) arm of chromosome 18. This chromosomal change is written as 18q-. The size of the deletion and its location on the chromosome vary among affected individuals. The signs and symptoms of 18q deletion syndrome, including the leukodystroph...
What causes Trisomy 18? In most cases, trisomy 18 is caused by having 3 copies of chromosome 18 in each cell in the body, instead of the usual 2 copies. The extra genetic material from the 3rd copy of the chromosome disrupts development, causing the characteristic signs and symptoms of the condition. About 5% of people...
Isodicentric chromosome 15 syndrome is a chromosome abnormality that affects many different parts of the body. As the name suggests, people with this condition have an extra chromosome (called an isodicentric chromosome 15) which is made of two pieces of chromosome 15 that are stuck together end-to-end. Although the se...
Much of the on-going research on RMDs is aimed at prevention and rehabilitation. The National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS) funds research on RMDs.
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.
What causes Pelizaeus-Merzbacher disease? Pelizaeus-Merzbacher disease is caused by mutations in the PLP1 gene. This gene provides instructions for producing proteolipid protein 1 and a modified version (isoform) of proteolipid protein 1, called DM20. Proteolipid protein 1 and DM20 are primarily located in the central ...
Signs and symptoms of pulmonary hypertension (PH) may include: Shortness of breath during routine activity, such as climbing two flights of stairs Tiredness Chest pain A racing heartbeat Pain on the upper right side of the abdomen ...
Mutations in the DDC gene cause AADC deficiency. The DDC gene provides instructions for making the AADC enzyme, which is important in the nervous system. This enzyme helps produce dopamine and serotonin from other molecules. Dopamine and serotonin are neurotransmitters, which are chemical messengers that transmit signa...
Different factors increase or decrease the risk of breast cancer. Anything that increases your chance of getting a disease is called a risk factor. Anything that decreases your chance of getting a disease is called a protective factor. For information about risk factors and protective factors for breast cancer, see ...
The mission of the National Institute of Neurological Disorders and Stroke (NINDS) is to seek fundamental knowledge of the brain and nervous system and to use that knowledge to reduce the burden of neurological disease. The NINDS conducts and supports an extensive research program of basic science to increase understan...
Mastocytic enterocolitis is a term describing the condition of chronic, intractable diarrhea in people with normal colon or duodenum biopsy results, but with an increased number of mast cells in the colonic mucosa (the innermost layer of the colon). The increase in mast cells is not associated with systemic or cutaneou...
What causes hereditary fructose intolerance (HFI)? HFI is caused by alterations (mutations) in the ALDOB gene. This gene provides instructions for making an enzyme called aldolase B. This enzyme is primarily found in the liver and is involved in the breakdown of fructose into energy. Mutations in the ALDOB gene reduce ...
These resources address the diagnosis or management of microphthalmia: - Gene Review: Gene Review: Microphthalmia/Anophthalmia/Coloboma Spectrum - Genetic Testing Registry: Cataract, congenital, with microphthalmia - Genetic Testing Registry: Cataract, microphthalmia and nystagmus - Genetic Testing Registry: Microp...
Iridocorneal endothelial (ICE) syndrome describes a group of eye diseases that are characterized by three main features: Visible changes in the iris (the colored part of the eye that regulates the amount of light entering the eye) Swelling of the cornea, and The development of glaucoma (a disease that can cause seve...
How might hereditary sensory neuropathy type 1 be treated? Management of hereditary sensory neuropathy type 1 generally follows the guidelines for diabetic foot care, including careful cleansing and protection of wounds and surgical care when needed. Pain medications may be used by those who experience shooting pains.
Health care providers may prescribe certain medications to prevent UTIs and kidney stones: - A person with medullary sponge kidney may need to continue taking a low-dose antibiotic to prevent recurrent infections. - Medications that reduce calcium in the urine may help prevent calcium kidney stones. T...
These resources address the diagnosis or management of SAVI: - Beth Israel Deaconess Medical Center: Autoinflammatory Disease Center - Eurofever Project - Genetic Testing Registry: Sting-associated vasculopathy, infantile-onset - University College London: Vasculitis and Autoinflammation Research Group These reso...
HD is diagnosed based on symptoms and test results. A doctor will perform a physical exam and ask questions about your childs bowel movements. HD is much less likely if parents can identify a time when their childs bowel habits were normal. If HD is suspected, the doctor will do one or...
What causes limbic encephalitis? In many patients limbic encephalitis is a paraneoplastic syndrome, which is most commonly associated with small cell lung cancer (SCLC), breast cancer, testicular tumors, teratomas, Hodgkin's lymphoma, and thymomas. Out of the various cancers linked to limbic encephalitis, the typicall...
Your throat is a tube that carries food to your esophagus and air to your windpipe and larynx. The technical name for throat is pharynx. Throat problems are common. You've probably had a sore throat. The cause is usually a viral infection, but other causes include allergies, infection with strep bacteria or the upw...
Spastic paraplegia type 3A is one of a group of genetic disorders known as hereditary spastic paraplegias. These disorders are characterized by muscle stiffness (spasticity) and weakness in the lower limbs (paraplegia). Hereditary spastic paraplegias are often divided into two types: pure and complex. The pure types in...
Your pleura is a large, thin sheet of tissue that wraps around the outside of your lungs and lines the inside of your chest cavity. Between the layers of the pleura is a very thin space. Normally it's filled with a small amount of fluid. The fluid helps the two layers of the pleura glide smoothly past each other as you...
Summary : When you're pregnant, eating healthy foods is more important than ever. You need more protein, iron, calcium, and folic acid than you did before pregnancy. You also need more calories. But "eating for two" doesn't mean eating twice as much. It means that the foods you eat are the main source of nutrients for ...
Treatment is symptomatic and supportive, and may include drug therapy.
Hypolipoproteinemia refers to unusually low levels of fats (lipids) in the blood. Low lipid levels may be caused by rare genetic conditions, or be a sign of another disorder such as overactive thyroid, anemia, undernutrition, cancer, chronic infection, or impaired absorption of foods from the digestive tract. Associate...
This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.
Kufs disease is a condition that primarily affects the nervous system, causing problems with movement and intellectual function that worsen over time. The signs and symptoms of Kufs disease typically appear around age 30, but they can develop anytime between adolescence and late adulthood. Two types of Kufs disease ha...
These resources address the diagnosis or management of osteoporosis-pseudoglioma syndrome: - Genetic Testing Registry: Osteoporosis with pseudoglioma - Lucile Packard Children's Hospital at Stanford: Juvenile Osteoporosis - MedlinePlus Encyclopedia: Bone Mineral Density Test - Merck Manual Home Health Edition: Oste...
These resources address the diagnosis or management of glycogen storage disease type VI: - Gene Review: Gene Review: Glycogen Storage Disease Type VI - Genetic Testing Registry: Glycogen storage disease, type VI These resources from MedlinePlus offer information about the diagnosis and management of various health ...
The incidence of XLAG is unknown; approximately 30 affected families have been described in the medical literature.
Hypothyroidism has many symptoms that can vary from person to person. Some common symptoms of hypothyroidism are - fatigue - weight gain - a puffy face - cold intolerance - joint and muscle pain - constipation - dry skin - dry, thinning hair - decreased sweating - heavy or irregular menstrual ...
How is hereditary leiomyomatosis and renal cell cancer inherited? Hereditary leiomyomatosis and renal cell cancer (HLRCC) is inherited in an autosomal dominant pattern, which means that having one mutated copy of the gene in each cell is enough to cause symptoms of the condition. In some cases, an affected person inher...
This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder.
These resources address the diagnosis or management of early-onset glaucoma: - Gene Review: Gene Review: Primary Congenital Glaucoma - Genetic Testing Registry: Glaucoma, congenital - Genetic Testing Registry: Primary open angle glaucoma juvenile onset 1 - MedlinePlus Encyclopedia: Glaucoma These resources from M...
Gilbert syndrome is a relatively mild condition characterized by periods of elevated levels of a toxic substance called bilirubin in the blood (hyperbilirubinemia). Bilirubin, which has an orange-yellow tint, is produced when red blood cells are broken down. This substance is removed from the body only after it undergo...
Multicentric osteolysis, nodulosis, and arthropathy (MONA) describes a rare inherited disease characterized by a loss of bone tissue (osteolysis), particularly in the hands and feet. MONA includes a condition formerly called nodulosis-arthropathy-osteolysis (NAO) syndrome. It may also include a similar disorder called ...
The inheritance pattern of multiple sclerosis is unknown, although the condition does appear to be passed down through generations in families. The risk of developing multiple sclerosis is higher for siblings or children of a person with the condition than for the general population.
Diarrhea is treated by replacing lost fluids, salts, and minerals to prevent dehydration. Taking medicine to stop diarrhea can be helpful in some cases. Medicines you can buy over the counter without a prescription include loperamide (Imodium) and bismuth subsalicylate (Pepto-Bismol, Kaopectate). Stop ...
Hypophosphatasia (HPP) is a genetic condition that causes abnormal development of the bones and teeth. The severity of HPP can vary widely, from fetal death to fractures that don't begin until adulthood. Signs and symptoms may include poor feeding and respiratory problems in infancy; short stature; weak and soft bones;...
Glycogen storage disease type VI (also known as GSDVI or Hers disease) is an inherited disorder caused by an inability to break down a complex sugar called glycogen in liver cells. A lack of glycogen breakdown interferes with the normal function of the liver. The signs and symptoms of GSDVI typically begin in infancy ...
This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In some cases, an affected person inherits the mutation from one affected parent. Other cases result from new mutations in the gene and occur in people with no history...
Pseudoxanthoma elasticum, PXE, is an inherited disorder that causes calcium and other minerals to accumulate in the elastic fibers of the skin, eyes, and blood vessels, and less frequently in other areas such as the digestive tract. PXE may cause the following symptoms: growth of yellowish bumps on the skin of the nec...
In animals, rabies is diagnosed using the direct fluorescent antibody (DFA) test, which looks for the presence of rabies virus antigens in brain tissue. In humans, several tests are required. Rapid and accurate laboratory diagnosis of rabies in humans and other animals is essential for timely administration of postex...
This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.
Your health care team may teach you how to test for chemicals called ketones in your morning urine or in your blood. High levels of ketones are a sign that your body is using your body fat for energy instead of the food you eat. Using fat for energy is not recommended during pregnancy. Ketones may be harmful for your b...
These resources address the diagnosis or management of SMARD1: - Genetic Testing Registry: Spinal muscular atrophy with respiratory distress 1 These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabil...
What causes Behr syndrome? The exact cause of Behr syndrome is not known; however, a genetic cause is suspected based on the families identified, thus far.
This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.
Summary : Health insurance helps protect you from high medical care costs. It is a contract between you and your insurance company. You buy a plan or policy, and the company agrees to pay part of your expenses when you need medical care. Many people in the United States get a health insurance policy through their em...
The exact incidence of amelogenesis imperfecta is uncertain. Estimates vary widely, from 1 in 700 people in northern Sweden to 1 in 14,000 people in the United States.
Spastic paraplegia type 8 is part of a group of genetic disorders known as hereditary spastic paraplegias. These disorders are characterized by progressive muscle stiffness (spasticity) and the development of paralysis of the lower limbs (paraplegia). Hereditary spastic paraplegias are divided into two types: pure and ...
Onset of symptoms of CMT is most often in adolescence or early adulthood, however presentation may be delayed until mid-adulthood. Progression of symptoms is very gradual. The degeneration of motor nerves results in muscle weakness and atrophy in the extremities (arms, legs, hands, or feet), and the degeneration of sen...
These resources address the diagnosis or management of myostatin-related muscle hypertrophy: - Gene Review: Gene Review: Myostatin-Related Muscle Hypertrophy - Genetic Testing Registry: Myostatin-related muscle hypertrophy These resources from MedlinePlus offer information about the diagnosis and management of vari...
Myelodysplastic syndromes (MDS) are a rare group of blood disorders characterized by abnormal development of blood cells within the bone marrow. Individuals with MDS have abnormally low blood cell levels (low blood counts). Signs and symptoms associated with MDS include dizziness, fatigue, weakness, shortness of breath...
Hypohidrotic ectodermal dysplasia is one of about 150 types of ectodermal dysplasia in humans. Before birth, these disorders result in the abnormal development of structures including the skin, hair, nails, teeth, and sweat glands. Most people with hypohidrotic ectodermal dysplasia have a reduced ability to sweat (hyp...
Prostate cancer is the most common nonskin cancer among men in the United States. Prostate cancer is found mainly in older men. Although the number of men with prostate cancer is large, most men diagnosed with this disease do not die from it. Prostate cancer causes more deaths in men than any other cancer except lung c...
Primary ciliary dyskinesia can result from mutations in many different genes. These genes provide instructions for making proteins that form the inner structure of cilia and produce the force needed for cilia to bend. Coordinated back and forth movement of cilia is necessary for the normal functioning of many organs an...