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Mutations in the SLC26A4 gene cause about half of all cases of Pendred syndrome. The SLC26A4 gene provides instructions for making a protein called pendrin. This protein transports negatively charged particles (ions), including chloride, iodide, and bicarbonate, into and out of cells. Although the function of pendrin i...
This condition is inherited in a mitochondrial pattern, which is also known as maternal inheritance. This pattern of inheritance applies to genes contained in mtDNA. Because egg cells, but not sperm cells, contribute mitochondria to the developing embryo, children can only inherit disorders resulting from mtDNA mutatio...
These resources address the diagnosis or management of CDA: - Gene Review: Gene Review: Congenital Dyserythropoietic Anemia Type I - Genetic Testing Registry: Congenital dyserythropoietic anemia, type I - Genetic Testing Registry: Congenital dyserythropoietic anemia, type II - Genetic Testing Registry: Congenital d...
Klippel Feil syndrome (KFS) is a congenital, musculoskeletal condition characterized by the fusion of at least two vertebrae of the neck. Common symptoms include a short neck, low hairline at the back of the head, and restricted mobility of the upper spine. This condition can cause chronic headaches as well as pain in ...
Most cases of nonsyndromic aplasia cutis congenita are sporadic, which means they occur in people with no history of the disorder in their family. When the condition runs in families, inheritance usually follows an autosomal dominant pattern, which means one copy of an altered gene in each cell is sufficient to cause t...
What are the signs and symptoms of Alopecia intellectual disability syndrome 2? The Human Phenotype Ontology provides the following list of signs and symptoms for Alopecia intellectual disability syndrome 2. If the information is available, the table below includes how often the symptom is seen in people with this cond...
Researchers have found a mutation in the WNT3 gene in people with tetra-amelia syndrome from one large family. This gene is part of a family of WNT genes that play critical roles in development before birth. The protein produced from the WNT3 gene is involved in the formation of the limbs and other body systems during ...
This condition is inherited in an autosomal dominant pattern, which means one copy of the altered FLCN gene in each cell is sufficient to cause the disorder. In most cases, an affected person inherits the mutation from one affected parent. Less commonly, the condition results from a new mutation in the gene and occurs ...
Your mind works a lot like a computer. Your brain puts information it judges to be important into "files." When you remember something, you pull up a file. Memory doesn't always work perfectly. As people grow older, it may take longer to retrieve those files. Some adults joke about having a "senior moment." It's nor...
These resources address the diagnosis or management of hereditary diffuse gastric cancer: - American Cancer Society: How is Stomach Cancer Diagnosed? - Gene Review: Gene Review: Hereditary Diffuse Gastric Cancer - Genetic Testing Registry: Hereditary diffuse gastric cancer - MedlinePlus Encyclopedia: Gastric Cancer...
Oxygen therapy is a treatment that provides you with extra oxygen. Oxygen is a gas that your body needs to function. Normally, your lungs absorb oxygen from the air you breathe. But some conditions can prevent you from getting enough oxygen. You may need oxygen if you have - COPD (chronic obstructive pulmonary...
Polycythemia vera (PV) is a rare blood disease. The disease affects people of all ages, but it's most common in adults who are older than 60. PV is rare in children and young adults. Men are at slightly higher risk for PV than women.
How might amelogenesis imperfecta be treated? Treatment depends on the type of amelogenesis imperfecta and the type of enamel abnormality. Treatments include preventative measures, various types of crowns, as well as tooth implants or dentures in the most severe cases. The social and emotional impact of this condition ...
How might Takayasu arteritis be treated? The treatment of Takayasu arteritis is focused on controlling both the inflammatory process and hypertension . Treatment options might include: corticosteroids, medications that block the activity of interkeukin-6 (iL-6 receptor inhibitors), medications that impair the activity ...
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.
Porencephaly is a rare condition that affects the central nervous system. People with porencephaly develop fluid-filled cysts or cavities in the brain either before or shortly after birth. The severity of the condition and the associated signs and symptoms vary significantly based on the size, location, and number of c...
For unruptured aneurysms, treatment may be recommended for large or irregularly-shaped aneurysms or for those causing symptoms. Emergency treatment for individuals with a ruptured cerebral aneurysm may be required to restore deteriorating respiration and reduce abnormally high pressure within the brain. Treatment is ne...
PPS is a very slowly progressing condition marked by long periods of stability. The severity of PPS depends on the degree of the residual weakness and disability an individual has after the original polio attack. People who had only minimal symptoms from the original attack and subsequently develop PPS will most likely...
WD requires lifelong treatment, generally using drugs that remove excess copper from the body and prevent it from re-accumulating. Zinc, which blocks the absorption of copper in the stomach and causes no serious side effects, is often considered the treatment of choice. Penicillamine and trientine are copper chelators ...
If you have chronic hepatitis B, you should do things to take care of yourself, including eating a healthy diet. Avoid drinking alcohol, which can harm the liver. Talk with your doctor before taking vitamins and other supplements.
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 : Laboratory tests check a sample of your blood, urine, or body tissues. A technician or your doctor analyzes the test samples to see if your results fall within the normal range. The tests use a range because what is normal differs from person to person. Many factors affect test results. These include - ...
Depending on the cause of your taste disorder, your doctor may be able to treat your problem or suggest ways to cope with it. If a certain medication is the cause of the problem, your doctor may be able to adjust or change your medicine. Your doctor will work with you to get the medicine you need while trying to reduce...
How is microcephalic osteodysplastic primordial dwarfism type 1 (MOPD1) inherited? MOPD1 is thought to be inherited in an autosomal recessive manner. This means that affected individuals have abnormal gene changes (mutations) in both copies of the disease-causing gene, with one copy inherited from each parent. The pare...
What causes Peutz-Jeghers syndrome? Peutz-Jeghers syndrome (PJS) is caused by changes (mutations) in the STK11 gene. STK11 is a tumor suppressor gene which means that it encodes a protein that helps keep cells from growing and dividing too rapidly or in an uncontrolled way. Mutations in STK11 result in a defective prot...
What causes meningoencephalocele? The exact cause of meningoencephalocele is not known. Some studies have suggested that environmental factors could play a role in causing the condition. Exposure during pregnancy to aflatoxins, toxins produced by a mold that grows in nuts, seeds, and legumes, has been proposed to be a ...
The urinary tract is the bodys drainage system for removing wastes and extra water. The urinary tract includes two kidneys, two ureters, a bladder, and a urethra. The kidneys are two bean-shaped organs, each about the size of a fist. They are located near the middle of the back, just below the rib cage, one on each sid...
You call it a cavity. Your dentist calls it tooth decay or dental caries. They're all names for a hole in your tooth. The cause of tooth decay is plaque, a sticky substance in your mouth made up mostly of germs. Tooth decay starts in the outer layer, called the enamel. Without a filling, the decay can get deep into the...
What are the signs and symptoms of Kleiner Holmes syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Kleiner Holmes 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 Medic...
1p36 deletion syndrome is believed to affect between 1 in 5,000 and 1 in 10,000 newborns. However, this may be an underestimate because some affected individuals are likely never diagnosed.
These resources address the diagnosis or management of IBMPFD: - Gene Review: Gene Review: Inclusion Body Myopathy with Paget Disease of Bone and/or Frontotemporal Dementia - Genetic Testing Registry: Inclusion body myopathy with early-onset paget disease and frontotemporal dementia These resources from MedlinePlus...
Essential tremor can be passed through generations in families, but the inheritance pattern varies. In most affected families, essential tremor appears to be inherited in an autosomal dominant pattern, which means one copy of an altered gene in each cell is sufficient to cause the disorder, although no genes that cause...
How is Lemierre syndrome treated? Most cases of internal jugular thrombophlebitis can be managed medically without the need for surgery of the infected vein. Prolonged courses of intravenous antibiotics (3 to 6 weeks) is usually required. Anticoagulants have sometimes been used, but efficacy is unconfirmed. Surgery of ...
Hypochondroplasia is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. Most people with hypochondroplasia have average-size parents; these cases result from a new mutation in the FGFR3 gene. In the remaining cases, people with hypochon...
Progressive pseudorheumatoid arthropathy of childhood (PPAC) is a disorder of bone and cartilage that affects many joints. Major signs and symptoms include stiff joints (contractures), short stature, and widening of the ends of the finger and toe bones as well as other tubular bones. PPAC may initially be mistaken for ...
Types 1, 2, and 3 hemochromatosis are inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. Most often, the parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene but do not show signs and symptoms of the condition. ...
Most cases of Dandy-Walker malformation are sporadic, which means they occur in people with no history of the disorder in their family. A small percentage of cases seem to run in families; however, Dandy-Walker malformation does not have a clear pattern of inheritance. Multiple genetic and environmental factors likely ...
These resources address the diagnosis or management of familial erythrocytosis: - Genetic Testing Registry: Erythrocytosis, familial, 2 - Genetic Testing Registry: Erythrocytosis, familial, 3 - Genetic Testing Registry: Erythrocytosis, familial, 4 - Genetic Testing Registry: Familial erythrocytosis, 1 - MedlinePlu...
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.
Health history affects the risk of developing rectal cancer. Anything that increases your chance of getting a disease is called a risk factor. Having a risk factor does not mean that you will get cancer; not having risk factors doesnt mean that you will not get cancer. Talk to your doctor if you think you may be at ris...
Vasculitis is an inflammation of blood vessels, which includes the veins, arteries, and capillaries. Inflammation occurs with infection or is thought to be due to a faulty immune system response. It also can be caused by other immune system disease, an allergic reaction to medicines or toxins, and by certain blood canc...
Most people with pyelonephritis do not have complications if appropriately treated with bacteria-fighting medications called antibiotics. In rare cases, pyelonephritis may cause permanent kidney scars, which can lead to chronic kidney disease, high blood pressure, and kidney failure. These problems usu...
These resources address the diagnosis or management of PMAH: - Eunice Kennedy Shriver National Institute of Child Health and Human Development: How Do Health Care Providers Diagnose Adrenal Gland Disorders? - Eunice Kennedy Shriver National Institute of Child Health and Human Development: What are the Treatments for ...
People at highest risk for Marfan syndrome are those who have a family history of the condition. If you have Marfan syndrome, you have a 50 percent chance of passing the altered gene to each of your children. Marfan syndrome affects about 1 out of every 5,000 people in the United States. Men, women, an...
Septo-optic dysplasia is usually sporadic, which means that the condition typically occurs in people with no history of the disorder in their family. Less commonly, septo-optic dysplasia has been found to run in families. Most familial cases appear to have an autosomal recessive pattern of inheritance, which means tha...
Biotinidase deficiency is an inherited disorder in which the body is unable to recycle the vitamin biotin. If this condition is not recognized and treated, its signs and symptoms typically appear within the first few months of life, although it can also become apparent later in childhood. Profound biotinidase deficien...
How might notalgia paresthetica be treated? While this condition may be difficult to treat, typical neuralgia therapies are often employed with moderate success. Effective measures may include: Cooling lotions as required (camphor and menthol) Capsaicin cream - this depletes nerve endings of their chemical transmitter...
Blood alcohol concentration (BAC) measures the percentage of ethanolthe chemical name for alcohol in alcoholic beveragesin a persons blood. As you drink, you increase your blood alcohol concentration (BAC) level. The higher the BAC, the more impaired a person is. In all states, it is against the law for people to drive...
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.
Psoriasis is a skin disease that causes itchy or sore patches of thick, red skin with silvery scales. You usually get the patches on your elbows, knees, scalp, back, face, palms and feet, but they can show up on other parts of your body. Some people who have psoriasis also get a form of arthritis called psoriatic arthr...
What causes deafness, progressive with stapes fixation? The exact cause of deafness, progressive with stapes fixation depends on whether it is associated with an underlying condition or infection. Isolated cases may be inherited. Autosomal dominant, autosomal recessive, and X-linked cases have been reported. In some c...
Granulomatosis with polyangiitis (GPA), previously known as Wegener's granulomatosis, is a rare disease. It is a type of vasculitis, or inflammation of the blood vessels. The inflammation limits the flow of blood to important organs, causing damage. It can affect any organ, but it mainly affects the sinuses, nose, trac...
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.
The prevalence of Weaver syndrome is unknown. About 50 affected individuals have been described in the medical literature.
Is polycythemia vera inherited? Most cases of polycythemia vera (PCV) are not inherited from a parent and are acquired during a person's lifetime. The condition is associated with genetic changes (mutations) that are somatic, which means they occur in cells of the body but not in egg and sperm cells. In rare cases, the...
These resources address the diagnosis or management of hypomagnesemia with secondary hypocalcemia: - Genetic Testing Registry: Hypomagnesemia 1, intestinal - MedlinePlus Encyclopedia: Hypomagnesemia These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: ...
These resources address the diagnosis or management of X-linked infantile nystagmus: - Gene Review: Gene Review: FRMD7-Related Infantile Nystagmus - Genetic Testing Registry: Infantile nystagmus, X-linked - MedlinePlus Encyclopedia: Nystagmus These resources from MedlinePlus offer information about the diagnosis a...
Delirium is a condition that features rapidly changing mental states. It causes confusion and changes in behavior. Besides falling in and out of consciousness, there may be problems with - Attention and awareness - Thinking and memory - Emotion - Muscle control - Sleeping and waking Causes of de...
There is currently no cure for Niemann-Pick disease. Treatment is supportive. Children usually die from infection or progressive neurological loss. There is currently no effective treatment for persons with type A. Bone marrow transplantation has been attempted in a few individuals with type B. The development of enzym...
What are the signs and symptoms of Familial dermographism? The Human Phenotype Ontology provides the following list of signs and symptoms for Familial dermographism. 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...
There is currently no effective cure or treatment for Friedreich's ataxia. However, many of the symptoms and accompanying complications can be treated to help individuals maintain optimal functioning as long as possible. Diabetes and heart problems can be treated with medications. Orthopedic problems such as foot defor...
Your body's immune system protects you from disease and infection. But if you have an autoimmune disease, your immune system attacks healthy cells in your body by mistake. Autoimmune diseases can affect many parts of the body. No one is sure what causes autoimmune diseases. They do tend to run in families. Women - p...
These resources address the diagnosis or management of Silver syndrome: - Gene Review: Gene Review: BSCL2-Related Neurologic Disorders/Seipinopathy - Gene Review: Gene Review: Hereditary Spastic Paraplegia Overview - Genetic Testing Registry: Spastic paraplegia 17 - Spastic Paraplegia Foundation, Inc.: Treatments a...
Summary : Assisted living is for adults who need help with everyday tasks. They may need help with dressing, bathing, eating, or using the bathroom, but they don't need full-time nursing care. Some assisted living facilities are part of retirement communities. Others are near nursing homes, so a person can move easily ...
Hutchinson-Gilford progeria syndrome is a genetic condition characterized by the dramatic, rapid appearance of aging beginning in childhood. Affected children typically look normal at birth and in early infancy, but then grow more slowly than other children and do not gain weight at the expected rate (failure to thrive...
This condition affects an estimated 1 in 8,500 females.
The signs and symptoms of adult brain and spinal cord tumors are not the same in every person. Signs and symptoms depend on the following: - Where the tumor forms in the brain or spinal cord. - What the affected part of the brain controls. - The size of the tumor. Signs and symptoms may be caused b...
Key Points - There is no staging system for Langerhans cell histiocytosis (LCH). - Treatment of LCH is based on where LCH cells are found in the body and how many body systems are affected. There is no staging system for Langerhans cell histio...
Ohtahara syndrome is a neurological disorder characterized by seizures. The disorder affects newborns, usually within the first three months of life (most often within the first 10 days) in the form of epileptic seizures. Infants have primarily tonic seizures, but may also experience partial seizures, and rarely, myocl...
Juvenile Paget disease is rare; about 50 affected individuals have been identified worldwide.
What are the signs and symptoms of Fraser like syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Fraser like syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dic...
Hypothyroidism is a disorder that occurs when the thyroid gland does not make enough thyroid hormone to meet the bodys needs. Thyroid hormone regulates metabolismthe way the body uses energyand affects nearly every organ in the body. Without enough thyroid hormone, many of the bodys functions slow down. About 4.6 perce...
These resources address the diagnosis or management of familial atrial fibrillation: - Genetic Testing Registry: Atrial fibrillation, familial, 1 - Genetic Testing Registry: Atrial fibrillation, familial, 2 - Genetic Testing Registry: Atrial fibrillation, familial, 3 - MedlinePlus Encyclopedia: Arrhythmias - Medli...
The prevalence of Denys-Drash syndrome is unknown; at least 150 affected individuals have been reported in the scientific literature.
What are the signs and symptoms of Cerebral gigantism jaw cysts? The Human Phenotype Ontology provides the following list of signs and symptoms for Cerebral gigantism jaw cysts. 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 signs and symptoms of Binswanger's disease? The signs and symptoms associated with Binswanger's disease generally disrupt tasks related to "executive cognitive functioning," including short-term memory, organization, mood, the regulation of attention, the ability to make decisions, and appropriate behavior...
These resources address the diagnosis or management of fish-eye disease: - Genetic Testing Registry: Fish-eye disease - MedlinePlus Encyclopedia: Corneal Transplant - Oregon Health and Science University: Corneal Dystrophy These resources from MedlinePlus offer information about the diagnosis and management of var...
Catecholaminergic polymorphic ventricular tachycardia (CPVT) is a genetic disorder that causes an abnormally fast and irregular heart rhythm in response to physical activity or emotional stress. Signs and symptoms include light-headedness, dizziness, and fainting. Symptoms most often develop between 7 to 9 years of age...
Glycogen storage disease type 7 (GSD7) is an inherited condition in which the body is unable to break down glycogen (a complex sugar) in the muscle cells. Because glycogen is an important source of energy, this can interfere with the normal functioning of muscle cells. The severity of the condition and the associated s...
Obesity means having too much body fat. It is different from being overweight, which means weighing too much. The weight may come from muscle, bone, fat, and/or body water. Both terms mean that a person's weight is greater than what's considered healthy for his or her height. Obesity occurs over time when you eat m...
How might human T-cell leukemia virus, type 1 be treated? No cure or treatment exists for human T-cell leukemia virus, type 1 (HTLV-1). Management is focused on early detection and preventing the spread of HTLV-1 to others. Screening blood doners, promoting safe sex and discouraging needle sharing can decrease the num...
Frontometaphyseal dysplasia is a rare disorder; only a few dozen cases have been reported worldwide.
Infantile neuronal ceroid lipofuscinosis (NCL) is an inherited disorder that primarily affects the nervous system. Beginning in infancy, children with this condition have intellectual and motor disability, rarely developing the ability to speak or walk. Affected children often have muscle twitches (myoclonus), recurren...
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.
Key Points - Hypopharyngeal cancer is a disease in which malignant (cancer) cells form in the tissues of the hypopharynx. - Use of tobacco products and heavy drinking can affect the risk of developing hypopharyngeal cancer. - Signs and symptoms of hypopharyngeal cancer include a sore throat a...
How is Schnitzler syndrome diagnosed? A diagnosis of Schnitzler syndrome is often suspected based on the presence of characteristic signs and symptoms identified through physical exam, laboratory studies (i.e. immunoelectrophoresis) and/or imaging studies. Additional testing should also be ordered to rule out other con...
These resources address the diagnosis or management of congenital generalized lipodystrophy: - Gene Review: Gene Review: Berardinelli-Seip Congenital Lipodystrophy - Genetic Testing Registry: Berardinelli-Seip congenital lipodystrophy - MedlinePlus Encyclopedia: Hypertrophic Cardiomypathy - University of Texas Sout...
Animal diseases that people can catch are called zoonoses. Many diseases affecting humans can be traced to animals or animal products. You can get a disease directly from an animal, or indirectly, through the environment. Farm animals can carry diseases. If you touch them or things they have touched, like fencing or...
Key Points - Primary myelofibrosis is a disease in which abnormal blood cells and fibers build up inside the bone marrow. - Symptoms of primary myelofibrosis include pain below the ribs on the left side and feeling very tired. - Certain factors affect prognosis (chance of recovery) and treatme...
Mutations in any of three genes, ETFA, ETFB, and ETFDH, can result in glutaric acidemia type II. The ETFA and ETFB genes provide instructions for producing two protein segments, or subunits, that come together to make an enzyme called electron transfer flavoprotein. The ETFDH gene provides instructions for making anoth...
Breast cancer occurs when a malignant tumor forms in the breast tissue. The cancer can be found in the breast itself or in the ducts and lymph nodes that surround the breast.
How might Crigler Najjar syndrome, type 2 be treated? Treatment for Crigler Najjar syndrome, type 2 is based on trying to reduce bilirubin levels. As a result it is commonly treated with aggressive phototherapy and phenobarbitol. For severe disease, calcium gluconate, intravenous fluids, and albumin may be recommended....
When you look at an object, you're using several muscles to move both eyes to focus on it. If you have a problem with the muscles, the eyes don't work properly. There are many kinds of eye movement disorders. Two common ones are - Strabismus - a disorder in which the two eyes don't line up in the same directio...
How is COACH syndrome diagnosed? While there are no official guidelines, a diagnosis of COACH syndrome can be made when an individual is found to have both a particular malformation of the brain called cerebellar vermis hypoplasia (also referred to as the "molar tooth sign" due to the characteristic look of this malfor...
Acromegaly is a hormonal disorder that results from the pituitary gland producing too much growth hormone (GH). It is most often diagnosed in middle-aged adults, although symptoms can appear at any age. Signs and symptoms include abnormal growth and swelling of the hands and feet; bone changes that alter various facial...
These resources address the diagnosis or management of CMAMMA: - Genetic Testing Registry: Combined malonic and methylmalonic aciduria - Organic Acidemia Association: What are Organic Acidemias? These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Di...
What are the signs and symptoms of Osteoporosis oculocutaneous hypopigmentation syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Osteoporosis oculocutaneous hypopigmentation syndrome. If the information is available, the table below includes how often the symptom is seen in p...
These resources address the diagnosis or management of GM2-gangliosidosis, AB variant: - Genetic Testing Registry: Tay-Sachs disease, variant AB These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehab...
Treatment begins with a thorough diagnostic evaluation, usually performed by a neurologist, including an assessment of motor and sensory skills, balance and coordination, mental status, reflexes, and functioning of the nerves. Diagnostic tests that may be helpful include a CT or MRI scan of the brain, an EMG to evaluat...
Poor health can contribute to being homeless, and being homeless can lead to poor health. Limited access to health care can make it worse. That's why the health of homeless people in the United States is worse than that of the general population. Common health problems include - Mental health problems - Substa...