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Signs of lip and oral cavity cancer include a sore or lump on the lips or in the mouth. These and other signs and symptoms may be caused by lip and oral cavity cancer or by other conditions. Check with your doctor if you have any of the following: - A sore on the lip or in the mouth that does not heal. - A ...
No. Unlike the other inflammatory bowel diseases, such as Crohns disease and ulcerative colitis, microscopic colitis does not increase a persons risk of getting colon cancer.
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.
Pfeiffer syndrome is a genetic disorder characterized by the premature fusion of certain skull bones (craniosynostosis). This early fusion prevents the skull from growing normally and affects the shape of the head and face. Pfeiffer syndrome also affects bones in the hands and feet. Many of the characteristic facial f...
AF, which affects as many as 2.2 million Americans, increases an individuals risk of stroke by 4 to 6 times on average. The risk increases with age. In people over 80 years old, AF is the direct cause of 1 in 4 strokes. Treating individuals with warfarin or new blood thinners reduces the rate of stroke for those who ha...
Farber's disease is an inherited condition involving the breakdown and use of fats in the body (lipid metabolism). People with this condition have an abnormal accumulation of lipids (fat) throughout the cells and tissues of the body, particularly around the joints. Farber's disease is characterized by three classic sym...
Summary : Human papillomaviruses (HPV) are common viruses that can cause warts. There are more than 100 types of HPV. Most are harmless, but about 30 types put you at risk for cancer. These types affect the genitals and you get them through sexual contact with an infected partner. They can be either low-risk or high-ri...
What causes Hashimotos syndrome? Hashimoto's syndrome is an autoimmune disorder thought to result from a combination of genetic and environmental factors. Some of these factors have been identified, but many remain unknown. People with Hashimotos syndrome have antibodies to various thyroid antigens. The antibodies "att...
The exact incidence of oculodentodigital dysplasia is unknown. It has been diagnosed in fewer than 1,000 people worldwide. More cases are likely undiagnosed.
How is Holt-Oram syndrome inherited? Holt-Oram syndrome (HOS) is inherited in an autosomal dominant manner. This means that having only one changed (mutated) copy of the responsible gene in each cell is enough to cause signs and symptoms of the condition. In most cases, the mutation in the gene occurs for the first tim...
Hyper IgD syndrome is an inflammatory genetic disorder characterized by periodic episodes of fever associated with additional symptoms including joint pain, skin rash and abdominal pain. Most episodes last several days and occur periodically throughout life. The frequency of episodes and their severity vary greatly fro...
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.
Familial pityriasis rubra pilaris usually has an autosomal dominant inheritance pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. Affected individuals usually inherit the condition from one affected parent. However, the condition is said to have incomplete penetrance be...
The prevalence of the X-linked recessive type of EDA-ID is estimated to be 1 in 250,000 individuals. Only a few cases of the autosomal dominant form have been described in the scientific literature.
How is Hailey-Hailey disease inherited? Hailey-Hailey disease is inherited in an autosomal dominant manner. This means that having only one mutated copy of the disease-causing gene in each cell is enough to cause signs or symptoms of the condition. Some people with Hailey-Hailey disease inherit the condition from an af...
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 most cases, an affected person has one parent with the condition. As the altered CACNA1A gene is passed down from one generation to the next, the length of the CA...
Proctitis is inflammation of the lining of the rectum, the lower end of the large intestine leading to the anus. The large intestine and anus are part of the gastrointestinal (GI) tract. The GI tract is a series of hollow organs joined in a long, twisting tube from the mouth to the anus. The movement of muscles in the ...
These resources address the diagnosis or management of Danon disease: - American Heart Association: Dilated Cardiomyopathy - Genetic Testing Registry: Danon disease - KidsHealth from Nemours: Getting an EKG - Swedish Information Centre for Rare Diseases These resources from MedlinePlus offer information about the...
3-Hydroxyisobutyric aciduria is a rare metabolic condition in which the body is unable to breakdown certain amino acids (the building blocks of protein). This leads to a toxic buildup of particular acids known as organic acids in the blood (organic acidemia), tissues and urine (organic aciduria). Signs and symptoms of ...
Donohue syndrome results from mutations in the INSR gene. This gene provides instructions for making a protein called an insulin receptor, which is found in many types of cells. Insulin receptors are embedded in the outer membrane surrounding the cell, where they attach (bind) to insulin circulating in the bloodstream....
Pulmonary vein stenosis is a very rare and serious condition in which there is a blockage in the blood vessels that bring oxygen-rich blood from the lungs back to the heart. This condition can be isolated to one vein, but often affects multiple veins. Stenosis occurs when there is an abnormal thickening and narrowing o...
The National Institute of Neurological Disorders and Stroke supports and conducts an extensive research program on neuromuscular disorders. The goals of this research are to learn more about these disorders and to find ways to treat, prevent, and cure them.
Vitiligo sometimes runs in families, but the inheritance pattern is complex since multiple causative factors are involved. About one-fifth of people with this condition have at least one close relative who is also affected.
Limb-girdle muscular dystrophy is a group of disorders which affect the voluntary muscles around the hips and shoulders. The conditions are progressive, leading to a loss of muscle strength and bulk over a number of years. Onset may occur in childhood, adolescence, young adulthood, or even later. Males and females are ...
Is genetic testing available for cerebrotendinous xanthomatosis? Yes, testing of the CYP27A1 gene is available. The Genetic Testing Registry provides information on clinical and research tests available for this condition. How is cerebrotendinous xanthomatosis diagnosed? Cerebrotendinous xanthomatosis is diagnosed by a...
The urinary tract is the bodys drainage system for removing wastes and extra fluid. 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 just below the rib cage, one on each side of the spine. Every day, th...
The prognosis for individuals with LEMS varies. Those with LEMS not associated with malignancy have a benign overall prognosis. Generally the presence of cancer determines the prognosis.
Researchers have not found that eating, diet, and nutrition play a role in causing or preventing short bowel syndrome.
The rectum is the lower part of your large intestine where your body stores stool. Problems with rectum are common. They include hemorrhoids, abscesses, incontinence and cancer. Many people are embarrassed to talk about rectal troubles. But seeing your doctor about problems in this area is important. This is especi...
Age-related macular degeneration (AMD) is an eye condition characterized by progressive destruction of the macula. The macula is located in the retina in the eye and enables one to see fine details and perform tasks that require central vision, such as reading and driving. Signs and symptoms include vision loss, which ...
Risk factors are conditions that increase the chances of getting a particular disease. The more risk factors people have, the greater their chances of developing that disease or condition. Diabetic neuropathy and related sexual and urologic problems appear to be more common in people who - have poor bl...
Myeloma and lymphoma are other types of blood cancers. Both are common among older adults and occur more often in men than women. Myeloma affects plasma cells, a type of white blood cells typically found in the bone marrow. Lymphoma starts in the lymphatic system, which is part of the body's immune system. Learn more ...
Summary : During your teens you go through puberty and become sexually mature. If you're a girl, you develop breasts and begin to get your period. If you're a boy, your penis and testicles become larger. If you have sex, you could get pregnant or get someone pregnant. Whether you choose to have sex or not, it is a good...
What causes glucose transporter type 1 deficiency syndrome? Glucose transporter type 1 deficiency syndrome (GLUT1 deficiency syndrome) is caused by changes (mutations) in the SLC2A1 gene. This gene encodes a protein that helps transport glucose (a simple sugar) into cells where it is used as fuel. The protein is partic...
These resources address the diagnosis or management of hereditary sensory and autonomic neuropathy type IE: - Gene Review: Gene Review: DNMT1-Related Dementia, Deafness, and Sensory Neuropathy - University of Chicago: Center for Peripheral Neuropathy These resources from MedlinePlus offer information about the diag...
How is split hand split foot nystagmus inherited? Split hand split foot nystagmus is thought to be inherited in an autosomal dominant fashion. A person with an autosomal dominant condition has a 50% chance of passing the condition on to their children. Click here to learn more about autosomal dominant inheritance. Some...
Body lice are parasitic insects that live on clothing and bedding used by infested persons. Body lice frequently lay their eggs on or near the seams of clothing. Body lice must feed on blood and usually only move to the skin to feed. Body lice exist worldwide and infest people of all races. Body lice infestations can s...
Approximately 20 percent of cases of Hirschsprung disease occur in multiple members of the same family. The remainder of cases occur in people with no history of the disorder in their families. Hirschsprung disease appears to have a dominant pattern of inheritance, which means one copy of the altered gene in each cell...
Mothers of children who are born with atrial septal defects (ASDs), ventricular septal defects (VSDs), or other heart defects may think they did something wrong during their pregnancies. However, most of the time, doctors don't know why congenital heart defects occur. Heredity may play a role in some h...
Necrotizing fasciitis is a serious infection of the skin, subcutaneous tissue (tissue just beneath the skin) and fascia. The infection can arise suddenly and spread quickly. Necrotizing fasciitis can be caused by several different types of bacteria. Early signs include flu-like symptoms and redness and pain around the ...
How might epidermolysis bullosa simplex be treated? There is no cure for epidermolysis bullosa simplex and there is no known treatment proven to completely control all of the symptoms. However, many complications can be lessened or avoided through early intervention. Individuals with milder forms of the disease have mi...
These resources address the diagnosis or management of hystrix-like ichthyosis with deafness: - Foundation for Ichthyosis and Related Skin Types: Ichthyosis Hystrix - Genetic Testing Registry: Hystrix-like ichthyosis with deafness These resources from MedlinePlus offer information about the diagnosis and management...
Only 80 to 100 individuals with sitosterolemia have been described in the medical literature. However, researchers believe that this condition is likely underdiagnosed because mild cases often do not come to medical attention. Studies suggest that the prevalence may be at least 1 in 50,000 people.
These resources address the diagnosis or management of Pitt-Hopkins syndrome: - Gene Review: Gene Review: Pitt-Hopkins Syndrome - Genetic Testing Registry: Pitt-Hopkins syndrome These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests -...
How is rheumatic fever diagnosed? A diagnosis of rheumatic fever is usually based on the following: Characteristic signs and symptoms identified by physical examination and/or specialized testing such as a blood test, chest X-ray and echocardiogram Confirmation of group A Streptococcus bacterial infection with a throat...
These resources address the diagnosis or management of CHMP2B-related frontotemporal dementia: - Family Caregiver Alliance - Gene Review: Gene Review: Frontotemporal Dementia, Chromosome 3-Linked - Genetic Testing Registry: Frontotemporal Dementia, Chromosome 3-Linked These resources from MedlinePlus offer informa...
Czech dysplasia is caused by a particular mutation in the COL2A1 gene. The COL2A1 gene provides instructions for making a protein that forms type II collagen. This type of collagen is found mostly in the clear gel that fills the eyeball (the vitreous) and in cartilage. Cartilage is a tough, flexible tissue that makes u...
Is lupus inherited? The Lupus Foundation of American has a page called Is lupus hereditary? that provides a good overview. They also have a Genetics page for all of their content tagged as related to genetics. Medscape Reference has an in-depth review of the genetics of lupus that was written for healthcare professiona...
X-linked thrombocytopenia is a bleeding disorder that primarily affects males. This condition is characterized by a blood cell abnormality called thrombocytopenia, which is a shortage in the number of cells involved in clotting (platelets). Affected individuals often have abnormally small platelets as well, a condition...
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 approximately 45 percent of cases, an affected person inherits the mutation from one affected parent. The remaining cases result from new mutations in the gene and...
Most children with the classic form of Farbers disease die by age 2, usually from lung disease. Children born with the most severe form of the disease usually die within 6 months, while individuals having a milder form of the disease may live into their teenage years or young adulthood.
VMCM is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to increase the risk of developing venous malformations. Some gene mutations are acquired during a person's lifetime and are present only in certain cells. These changes, which are not inherited, are...
These resources address the diagnosis or management of Leydig cell hypoplasia: - Genetic Testing Registry: Leydig cell agenesis - MedlinePlus Encyclopedia: Ambiguous Genitalia - MedlinePlus Encyclopedia: Hypospadias - MedlinePlus Encyclopedia: Intersex These resources from MedlinePlus offer information about the ...
Skin cancer is the most common form of cancer in the United States. The two most common types are basal cell cancer and squamous cell cancer. They usually form on the head, face, neck, hands, and arms. Another type of skin cancer, melanoma, is more dangerous but less common. Anyone can get skin cancer, but it is mo...
If the condition is limited to one kidney and the baby has no signs of kidney dysplasia, no treatment may be necessary. However, the baby should have regular checkups that include - checking blood pressure. - testing blood to measure kidney function. - testing urine for albumin, a protein most often ...
Allergic asthma can be passed through generations in families, but the inheritance pattern is unknown. People with mutations in one or more of the associated genes inherit an increased risk of allergic asthma, not the condition itself. Because allergic asthma is a complex condition influenced by genetic and environment...
Mutations in the ALG1 gene cause ALG1-CDG. This gene provides instructions for making an enzyme that is involved in a process called glycosylation. During this process, complex chains of sugar molecules (oligosaccharides) are added to proteins and fats (lipids). Glycosylation modifies proteins and lipids so they can fu...
In about half of individuals with PMAH, the condition is caused by mutations in the ARMC5 gene. This gene provides instructions for making a protein that is thought to act as a tumor suppressor, which means that it helps to prevent cells from growing and dividing too rapidly or in an uncontrolled way. ARMC5 gene mutati...
Disabilities make it harder to do normal daily activities. They may limit what you can do physically or mentally, or they can affect your senses. Disability doesn't mean unable, and it isn't a sickness. Most people with disabilities can - and do - work, play, learn, and enjoy full, healthy lives. Mobility aids and assi...
Fragile X syndrome occurs in approximately 1 in 4,000 males and 1 in 8,000 females.
What are the signs and symptoms of Keratolytic winter erythema? The Human Phenotype Ontology provides the following list of signs and symptoms for Keratolytic winter erythema. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePl...
What causes juvenile primary lateral sclerosis? Juvenile primary lateral sclerosis is caused by mutations in the ALS2 gene. The ALS2 gene provides instructions for making a protein called alsin. Alsin is abundant in motor neurons, but its function is not fully understood. Mutations in the ALS2 gene alter the instructio...
Rhizomelic chondrodysplasia punctata results from mutations in one of three genes. Mutations in the PEX7 gene, which are most common, cause RCDP1. Changes in the GNPAT gene lead to RCDP2, while AGPS gene mutations result in RCDP3. The genes associated with rhizomelic chondrodysplasia punctata are involved in the forma...
What are the signs and symptoms of Spinocerebellar ataxia 11? The Human Phenotype Ontology provides the following list of signs and symptoms for Spinocerebellar ataxia 11. 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...
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 : Exercise and physical activity are good for just about everyone, including older adults. There are four main types and each type is different. Doing them all will give you more benefits. - Endurance, or aerobic, activities increase your breathing and heart rate. Brisk walking or jogging, dancing, swimmi...
Although under federal law, marijuana is illegal to use under any circumstance, in some states doctors are allowed to prescribe it for medical use. However, solid data on marijuanas health benefits is lacking, and for smoked marijuana many health experts have concerns about the potential negative effects on the lungs a...
These resources address the diagnosis or management of dystonia 6: - Gene Review: Gene Review: Dystonia Overview - Genetic Testing Registry: Dystonia 6, torsion These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - ...
A doctor will test for prolactin blood levels in women with unexplained milk secretion, called galactorrhea, or with irregular menses or infertility and in men with impaired sexual function and, in rare cases, milk secretion. If prolactin levels are high, a doctor will test thyroid function and ask first about other co...
Squamous cell carcinoma (SCC) is the second most common skin cancer. SCC most often affects individuals who are exposed to large amounts of sunlight. It is typically characterized by a red papule or plaque with a scaly or crusted surface; it may be suspected whenever a small, firm reddish-colored skin lesion, growth or...
Sheldon-Hall syndrome, also known as distal arthrogryposis type 2B, is a disorder characterized by joint deformities (contractures) that restrict movement in the hands and feet. The term "arthrogryposis" comes from the Greek words for joint (arthro-) and crooked or hooked (gryposis). "Distal" refers to areas of the bod...
Normal blood pressure for adults is defined as a systolic pressure below 120 mmHg and a diastolic pressure below 80 mmHg. It is normal for blood pressures to change when you sleep, wake up, or are excited or nervous. When you are active, it is normal for your blood pressure to increase. However, once the activity stops...
Pfeiffer syndrome affects about 1 in 100,000 individuals.
How might hypohidrotic ectodermal dysplasia be treated? There is no specific treatment for HED. The condition is managed by treating the various symptoms. For patients with abnormal or no sweat glands, it is recommended that they live in places with air conditioning at home, school and work. In order to maintain normal...
Most cases of ovarian cancer are not caused by inherited genetic factors. These cancers are associated with somatic mutations that are acquired during a person's lifetime, and they do not cluster in families. A predisposition to cancer caused by a germline mutation is usually inherited in an autosomal dominant pattern...
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 ...
Summary : Drug abuse is a serious public health problem. It affects almost every community and family in some way. Drug abuse in children and teenagers may pose a greater hazard than in older people. This is because their brains are not yet fully developed. As a result, the brains of young people may be more susceptibl...
Succinate-CoA ligase deficiency results from mutations in the SUCLA2 or SUCLG1 gene. SUCLG1 gene mutations can cause fatal infantile lactic acidosis, while mutations in either gene can cause the somewhat less severe form of the condition. The SUCLA2 and SUCLG1 genes each provide instructions for making one part (subun...
The inheritance pattern of CDA depends on the type of the disorder. CDA types I and II are inherited in an autosomal recessive pattern, which means both copies of the associated gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, ...
Tabes dorsalis is a slow degeneration of the nerve cells and nerve fibers that carry sensory information to the brain. The degenerating nerves are in the dorsal columns of the spinal cord (the portion closest to the back of the body) and carry information that help maintain a person's sense of position. Tabes dorsalis ...
Anyone can get a kidney stone, but some people are more likely to get one. Men are affected more often than women, and kidney stones are more common in non-Hispanic white people than in non-Hispanic black people and Mexican Americans. Overweight and obese people are more likely to get a kidney stone than people of norm...
Orofaciodigital syndrome (OFDS) type 2 is a genetic condition that was first described in 1941 by Mohr. OFDS type 2 belongs to a group of disorders called orofaciodigital syndromes (OFDS) characterized by mouth malformations, unique facial findings, and abnormalities of the fingers and/or toes. Other organs might be af...
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 care providers diagnose primary hyperparathyroidism when a person has high blood calcium and PTH levels. High blood calcium is usually the first sign that leads health care providers to suspect parathyroid gland overactivity. Other diseases can cause high blood calcium levels, but only in primary hyperparathyroi...
What causes cramp-fasciculation syndrome? In many cases, the exact underlying cause of cramp-fasciculation syndrome (CFS) is unknown (idiopathic). In general, it is thought to be related to abnormal excitability (overactivity) of peripheral neurons. Some cases of CFS are associated with: Genetic disorders Autoimmune co...
How might cramp-fasciculation syndrome be treated? There is limited information in the medical literature about the treatment of cramp-fasciculation syndrome (CFS). Much of what is available describes individual cases. Some people with CFS improve without treatment. Treatment with carbamazepine, gabapentin, or pregabal...
These resources address the diagnosis or management of neurohypophyseal diabetes insipidus: - Genetic Testing Registry: Neurohypophyseal diabetes insipidus - MedlinePlus Encyclopedia: ADH - MedlinePlus Encyclopedia: Diabetes Insipidus - Central These resources from MedlinePlus offer information about the diagnosis...
What causes Fine-Lubinsky syndrome? The cause of Fine-Lubinsky syndrome remains unknown. With the exception of one family report of an affected brother and sister (suggesting an autosomal recessive inheritance pattern), all other cases have been sporadic (occurring in people with no family history of FLS). Additional r...
What are the signs and symptoms of Blepharospasm? The Human Phenotype Ontology provides the following list of signs and symptoms for Blepharospasm. 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 loo...
Retinal vasculopathy with cerebral leukodystrophy (RVCL) is a rare, genetic condition that primarily affects the central nervous system. Symptoms begin in adulthood (usually in the 40s) and may include loss of vision, mini-strokes, and dementia. Death can sometimes occur within 10 years of the first symptoms appearing....
The prognosis for opsoclonus myoclonus varies depending on the symptoms and the presence and treatment of tumors. With treatment of the underlying cause of the disorder, there may be an improvement of symptoms. The symptoms sometimes recur without warning. Generally the disorder is not fatal.
Mutations in the ALS2 gene cause most cases of juvenile primary lateral sclerosis. This gene provides instructions for making a protein called alsin. Alsin is abundant in motor neurons, but its function is not fully understood. Mutations in the ALS2 gene alter the instructions for producing alsin. As a result, alsin is...
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.
EB-PA appears to be a rare condition, although its prevalence is unknown. At least 50 affected individuals have been reported worldwide.
Greenberg dysplasia is a very rare condition. Approximately ten cases have been reported in the scientific literature.
High blood pressure is treated with lifestyle changes and medicines. Treatment can help control blood pressure, but it will not cure high blood pressure, even if your blood pressure readings appear normal. If you stop treatment, your blood pressure and risk for related health problems will rise. For a healthy future, f...
Your nervous system carries signals between your brain and other parts of your body through your spinal cord. Nerves are bundles of special tissues that transmit these signals. The signals share information between your brain and body about how things feel. The signals also send information between you...
Logopenic progressive aphasia (LPA) is a type of dementia characterized by language disturbance, including difficulty making or understanding speech (aphasia). It is a type of primary progressive aphasia (PPA). Affected individuals have slow, hesitant speech due to difficulty retrieving the correct words, names, or num...
Studies suggest that less than 1 percent of individuals in the general population have TPMT deficiency. Another 11 percent have moderately reduced levels of TPMT activity that increase their risk of hematopoietic toxicity with thiopurine drug treatment.
Mutations in the GSS gene cause glutathione synthetase deficiency. The GSS gene provides instructions for making an enzyme called glutathione synthetase. This enzyme is involved in a process called the gamma-glutamyl cycle, which takes place in most of the body's cells. This cycle is necessary for producing a molecule ...