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These resources address the diagnosis or management of fumarase deficiency: - Gene Review: Gene Review: Fumarate Hydratase Deficiency - Genetic Testing Registry: Fumarase deficiency These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Test...
Is Sjogren syndrome inherited? A genetic predisposition to Sjogren syndrome has been suggested. Familial clustering of different autoimmune diseases as well as co-association of multiple autoimmune diseases in individuals have frequently been reported. Some studies have shown up to 30% of people with Sjogren syndrome h...
Ethnic background and being exposed to the Epstein-Barr virus can affect the risk of nasopharyngeal cancer. Anything that increases your risk 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 doesn't mean that you will not get cancer. Talk...
What are the signs and symptoms of Amelogenesis imperfecta local hypoplastic? The Human Phenotype Ontology provides the following list of signs and symptoms for Amelogenesis imperfecta local hypoplastic. If the information is available, the table below includes how often the symptom is seen in people with this conditio...
Hepatic lipase deficiency is a rare condition that is characterized by increased levels of certain fats (known as triglycerides and cholesterol) in the blood. Affected people may also have increased levels of high-density lipoproteins (HDLs) and decreased levels of low-density lipoproteins (LDLs), which are two molecul...
Researchers are studying changes in genes that may increase the risk for developing prostate cancer. Some studies are looking at the genes of men who were diagnosed with prostate cancer at a relatively young age, less than 55 years old, and the genes of families who have several members with the disease. Other studies ...
EEC syndrome (Ectrodactyly-Ectodermal Dysplasia-Cleft Lip/Palate) is a rare form of ectodermal dysplasia. The symptoms can vary from mild to severe and most commonly include missing or irregular fingers and/or toes (ectrodactyly or split hand/foot malformation); abnormalities of the hair and glands; cleft lip and/or pa...
FENIB 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 many cases, an affected person has a parent with the condition.
Split hand split foot nystagmus is a rare congenital syndrome characterized by split hand and split foot deformity and eye abnormalities, especially nystagmus. It is thought to have an autosomal dominant mode of inheritance. Currently, the underlying genetic defect has not been identified. The outlook for children with...
The biliary tract consists of the gallbladder and the bile ducts. The bile ducts carry bile and other digestive enzymes from the liver and pancreas to the duodenumthe fi rst part of the small intestine. The liver produces bilea fl uid that carries toxins and waste products out of the body and helps the...
Deafness and myopia syndrome is rare condition that affects both hearing and vision. Beginning at birth or in early infancy, people with this condition have moderate to profound hearing loss in both ears that generally becomes worse over time. Affected people also develop severe myopia (nearsightedness) later in infanc...
Rhabdoid tumor (RT) is an aggressive pediatric soft tissue sarcoma that arises in the kidney, the liver, the peripheral nerves and all miscellaneous soft-parts throughout the body. RT involving the central nervous system (CNS) is called atypical teratoid rhabdoid tumor. RT usually occurs in infancy or childhood. In mos...
Mutations in the ASPA gene cause Canavan disease. The ASPA gene provides instructions for making an enzyme called aspartoacylase. This enzyme normally breaks down a compound called N-acetyl-L-aspartic acid (NAA), which is predominantly found in neurons in the brain. The function of NAA is unclear. Researchers had suspe...
Nonspherocytic hemolytic anemia due to hexokinase deficiency (NSHA due to HK1 deficiency) is a very rare condition mainly characterized by severe, chronic hemolysis, beginning in infancy. Approximately 20 cases of this condition have been described to date. Signs and symptoms of hexokinase deficiency are very similar t...
An infantile spasm (IS) is a specific type of seizure seen in an epilepsy syndrome of infancy and childhood known as West Syndrome. West Syndrome is characterized by infantile spasms, developmental regression, and a specific pattern on electroencephalography (EEG) testing called hypsarrhythmia (chaotic brain waves). Th...
Behcet's disease is a rare, chronic inflammatory disorder. The cause of Behcet's disease is unknown, but current research suggests that both genetic and environmental factors play a role. Behcet's disease generally begins when individuals are in their 20s or 30s, although it can happen at any age. It tends to occur mor...
Pyle disease is a bone disorder characterized by genu valgum (knock knees), Erlenmeyer flask deformity (where there is relative constriction of the diaphysis or shaft of the bone and flaring of the metaphysis or end of the bone), widening of the ribs and clavicles (collarbones), platyspondyly (flattening of the bones o...
Different factors increase or decrease the risk of developing prostate cancer. Anything that increases a person's chance of developing 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 fo...
CHHF virus has been successfully isolated from both blood and serum during the acute febrile phase of illness. Although not undertaken at the time of the initial cluster, virus can certainly be isolated from tissue obtained post-mortem if available. A subsequent complete genomic analysis of Chapare virus facilitated th...
These resources address the diagnosis or management of tetra-amelia syndrome: - Gene Review: Gene Review: Tetra-Amelia Syndrome - Genetic Testing Registry: Tetraamelia, autosomal recessive These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnost...
The cause of most childhood brain tumors is not known.
These resources address the diagnosis or management of leukocyte adhesion deficiency type 1: - Genetic Testing Registry: Leukocyte adhesion deficiency type 1 - MedlinePlus Encyclopedia: Gingivitis - MedlinePlus Encyclopedia: Immunodeficiency Disorders - Primary Immune Deficiency Treatment Consortium These resourc...
T-cell immunodeficiency, congenital alopecia, and nail dystrophy is a type of severe combined immunodeficiency (SCID), which is a group of disorders characterized by an almost total lack of immune protection from foreign invaders such as bacteria and viruses. People with this form of SCID are missing functional immune ...
How is hereditary spherocytosis inherited? About 75 percent of cases of hereditary spherocytosis are inherited in an autosomal dominant manner, which means that one copy of the altered (mutated) gene in each cell is sufficient to cause the condition. The mutated gene may be inherited from an affected parent or may occu...
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.
Erythropoietic protoporphyria is a type of porphyria. Porphyrias are caused by an abnormality in the heme production process. Heme is essential in enabling our blood cells to carry oxygen and in breaking down chemical compounds in the liver. Erythropoietic protoporphyria is caused by impaired activity of ferrocheletase...
What causes steatocystoma multiplex? Mutations in a gene called keratin 17 (KRT17) have been identified in some individuals with inherited steatocystoma multiplex. In these families the condition is inherited in an autosomal dominant fashion. In other cases the condition occurs sporadically. This may mean that it is du...
Brain tumors are abnormal growths inside the skull. They are among the most common types of childhood cancers. Some are benign tumors, which aren't cancer. They can still be serious. Malignant tumors are cancerous. Childhood brain and spinal cord tumors can cause headaches and other symptoms. However, other conditio...
What causes Chandler's syndrome? The underlying cause of Chandler's syndrome is unknown. Some researchers suspect that inflammation or chronic viral infection may play a role in the development of this condition. Chandler's syndrome develops when the endothelium, the single layer of cells lining the inside of the surf...
What causes HEM? HEM is associated with mutations (changes) in the lamin B receptor (LBR) gene located on chromosome 1, specifically at 1q42.1. Each person has two copies of the LBR gene - one inherited from mom and the other from dad. People who have two mutated copies of the LBR gene have HEM; thus, the condition is...
The prognosis for children with NMDs varies depending on the specific disorder and the degree of brain abnormality and subsequent neurological signs and symptoms.
Mutations in the NAGS gene cause N-acetylglutamate synthase deficiency. N-acetylglutamate synthase deficiency belongs to a class of genetic diseases called urea cycle disorders. The urea cycle is a sequence of reactions that occurs in liver cells. This cycle processes excess nitrogen, generated when protein is used by...
What are the signs and symptoms of Spastic paraplegia 5B? The Human Phenotype Ontology provides the following list of signs and symptoms for Spastic paraplegia 5B. 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 D...
Nephronophthisis has several genetic causes, which are used to split the condition into distinct types. Nephronophthisis type 1, which is the most common type of the disorder and one cause of juvenile nephronophthisis, results from changes affecting the NPHP1 gene. The proteins produced from NPHP1 and the other genes i...
Signs and symptoms of osteosarcoma and MFH include swelling over a bone or a bony part of the body and joint pain. These and other signs and symptoms may be caused by osteosarcoma or MFH or by other conditions. Check with a doctor if your child has any of the following: - Swelling over a bone or bony part of th...
Summary : Every racial or ethnic group has specific health concerns. Differences in the health of groups can result from - Genetics - Environmental factors - Access to care - Cultural factors On this page, you'll find links to health issues that affect Asian Americans.
Parkinson's belongs to a group of neurological conditions called movement disorders. The four main symptoms of Parkinson's disease are: - tremor, or trembling in hands, arms, legs, jaw, or head - rigidity, or stiffness of the limbs and trunk - bradykinesia, or slowness of movement - postural instability, or impaired...
Eating, diet, and nutrition have not been shown to play a role in causing or preventing simple kidney cysts.
Nearly everyone has had indigestion at one time. It's a feeling of discomfort or a burning feeling in your upper abdomen. You may have heartburn or belch and feel bloated. You may also feel nauseated, or even throw up. You might get indigestion from eating too much or too fast, eating high-fat foods, or eating when ...
This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is typically sufficient to cause the disorder. Almost everyone with a mutation in the PNKD gene will develop familial paroxysmal nonkinesigenic dyskinesia. In all reported cases, an affected person has in...
What are the signs and symptoms of Malaria? The Human Phenotype Ontology provides the following list of signs and symptoms for Malaria. 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 def...
How is hereditary sensory neuropathy type IE inherited? Hereditary sensory neuropathy type IE (HSNIE) 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 features of the condition. When a person with a mutation that...
These resources address the diagnosis or management of Horner syndrome: - Genetic Testing Registry: Horner syndrome, congenital These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Gene...
These resources address the diagnosis or management of Caffey disease: - Cedars-Sinai: Skeletal Dysplasia - Gene Review: Gene Review: Caffey Disease - Genetic Testing Registry: Infantile cortical hyperostosis These resources from MedlinePlus offer information about the diagnosis and management of various health co...
A desirable level for LDL (bad) cholesterol is under 100 mg/dL. Here are the ranges for LDL cholesterol levels. Do you know how your LDL level compares?
Due to the small number of HPS cases, the "incubation time" is not positively known. However, on the basis of limited information, it appears that symptoms may develop between 1 and 5 weeks after exposure to fresh urine, droppings, or saliva of infected rodents. Early Symptoms Early symptoms include fatig...
What treatment is available for progressive transformation of germinal centers? Because progressive transformation of germinal centers (PTGC) is considered a benign condition and usually has no symptoms other than the enlarged lymph node, no treatment is necessary. The enlarged lymph node may stay the same size or shri...
While epilepsy cannot be cured, for some people the seizures can be controlled with medication, diet, devices, and/or surgery. Most seizures do not cause brain damage, but ongoing uncontrolled seizures may cause brain damage. It is not uncommon for people with epilepsy, especially children, to develop behavioral and em...
The National Institute of Neurological Disorders and Stroke (NINDS) and other institutes at the National Institutes of Health support research in TOS through grants to major medical research institutions across the country. Much of this research focuses on finding better ways to diagnose and treat TOS.
In about one percent of people with the characteristic features of Huntington disease, no mutation in the HD gene has been identified. Mutations in the PRNP, JPH3, and TBP genes have been found to cause the signs and symptoms in some of these individuals. HDL1 is caused by mutations in the PRNP gene, while HDL2 results...
Whooping cough is an infectious bacterial disease that causes uncontrollable coughing. The name comes from the noise you make when you take a breath after you cough. You may have choking spells or may cough so hard that you vomit. Anyone can get whooping cough, but it is more common in infants and children. It's es...
COFS is a fatal disease. Most children do not live beyond five years.
These resources address the diagnosis or management of neuromyelitis optica: - Genetic Testing Registry: Neuromyelitis optica - National Institute of Neurological Disorders and Stroke: Neuromyelitis Optica Information Page - The Transverse Myelitis Association: Acute Treatments These resources from MedlinePlus off...
When IPEX syndrome is due to mutations in the FOXP3 gene, it is inherited in an X-linked recessive pattern. The FOXP3 gene 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. I...
How might intravenous leiomyomatosis be treated? The mainstay of treatment for IVL is surgery to remove the tumor and its spread throughout the body. The use of anti-estrogen therapy, such as tamoxifen, has also been suggested. Surgery requires the complete removal of the tumor, since incomplete removal may result in a...
Hepatic lipase deficiency is caused by mutations in the LIPC gene. This gene provides instructions for making an enzyme called hepatic lipase. This enzyme is produced by liver cells and released into the bloodstream where it helps convert very low-density lipoproteins (VLDLs) and intermediate-density lipoproteins (IDLs...
Congenitally corrected transposition of the great arteries is a rare heart defect that occurs when the ventricles and attached valves are switched. As a result, the aorta and the pulmonary artery are connected to the wrong lower heart chambers. Click here to visit MayoClinic.com and view an image of this heart defect. ...
Mutations in the SIL1 gene cause Marinesco-Sjgren syndrome. The SIL1 gene provides instructions for producing a protein located in a cell structure called the endoplasmic reticulum. Among its many functions, the endoplasmic reticulum folds and modifies newly formed proteins so they have the correct 3-dimensional shape....
Y chromosome infertility occurs in approximately 1 in 2,000 to 1 in 3,000 males of all ethnic groups. This condition accounts for between 5 percent and 10 percent of cases of azoospermia or severe oligospermia.
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 CAV3-related distal myopathy or another caveolinopathy. Rare cases result from new mutations in the gene and occu...
Myopathy with deficiency of iron-sulfur cluster assembly enzyme is an inherited disorder that primarily affects muscles used for movement (skeletal muscles). This condition does not usually affect other types of muscle, such as the heart (cardiac) muscle. From early childhood, affected individuals experience extreme f...
Henoch-Schnlein purpura is a disease that causes small blood vessels in the body to become inflamed and leak. The primary symptom is a rash that looks like many small raised bruises. HSP can also affect the kidneys, digestive tract, and joints. HSP can occur any time in life, but it is most common in children between 2...
These resources address the diagnosis or management of Laing distal myopathy: - Gene Review: Gene Review: Laing Distal Myopathy - Genetic Testing Registry: Myopathy, distal, 1 These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - D...
Anencephaly is one of the most common types of neural tube defect, affecting about 1 in 1,000 pregnancies. However, most of these pregnancies end in miscarriage, so the prevalence of this condition in newborns is much lower. An estimated 1 in 10,000 infants in the United States is born with anencephaly.
Severe congenital neutropenia can result from mutations in at least five different genes. These genes play a role in the maturation and function of neutrophils, which are cells produced by the bone marrow. Neutrophils secrete immune molecules and ingest and break down foreign invaders. Gene mutations that cause severe...
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.
Weill-Marchesani syndrome appears to be rare; it has an estimated prevalence of 1 in 100,000 people.
Certain factors affect treatment options and prognosis (chance of recovery). The treatment options and prognosis (chance of recovery) depend on the following: - The stage of the cancer (especially the size of the tumor). - The type of salivary gland the cancer is in. - The type of cancer cells (how they l...
Acute Bronchitis Acute bronchitis caused by an infection usually develops after you already have a cold or the flu. Symptoms of a cold or the flu include sore throat, fatigue (tiredness), fever, body aches, stuffy or runny nose, vomiting, and diarrhea. The main symptom of acute bronchi...
The mission of the National Institute of Neurological Disorders and Stroke (NINDS) is to seek fundamental knowledge about the brain and nervous system and to use that knowledge to reduce the burden of neurological disease. Research funded by the NINDS focuses on better understanding of how neurological deficits arise i...
Summary : As a patient, you have certain rights. Some are guaranteed by federal law, such as the right to get a copy of your medical records, and the right to keep them private. Many states have additional laws protecting patients, and healthcare facilities often have a patient bill of rights. An important patient r...
The prognosis for those with spasticity depends on the severity of the spasticity and the associated disorder(s).
Proteus-like syndrome describes people who do not meet the diagnostic criteria for Proteus syndrome but who share many of the characteristic signs and symptoms associated with the condition. Affected people may experience some of the following features: overgrowth of the bones, skin, and other tissues; hamartomas; abno...
The sulfone dapsone can provide immediate relief of symptoms. For patients who cannot tolerate dapsone, sulfapyridine or sulfamethoxypyridazine may be used, although these medications are less effective than dapsone. A strict gluten-free diet is the only treatment for the underlying disease. Even with a gluten-free die...
What causes rickets? Rickets is caused by a lack of vitamin D. A child might not get enough vitamin D if he or she: Has dark skin Spends too little time outside Has on sunscreen all the time when out of doors Doesn't eat foods containing vitamin D because of lactose intolerance or a strict vegetarian diet Is breastfed ...
The prevalence of MNGIE disease is unknown. About 70 people with this disorder have been reported.
MNT is the use of nutrition counseling by a registered dietitian to help promote a medical or health goal. A doctor may refer a patient to a registered dietitian to help with the patients food plan. Many insurance policies cover MNT when recommended by a doctor. Anyone who qualifies for Medicare can receive a benefit f...
How is CADASIL inherited? CADASIL is inherited in an autosomal dominant manner. This means that having a mutation in only one copy of the responsible gene in each cell is enough to cause CADASIL. In most cases, an affected person inherits the mutated gene from an affected parent. In rare cases, CADASIL may result from ...
Mutations in the ETHE1 gene cause ethylmalonic encephalopathy. The ETHE1 gene provides instructions for making an enzyme that plays an important role in energy production. It is active in mitochondria, which are the energy-producing centers within cells. Little is known about the enzyme's exact function, however. Mut...
Most cases of Parkes Weber syndrome occur in people with no history of the condition in their family. These cases are described as sporadic. When Parkes Weber syndrome is caused by mutations in the RASA1 gene, it is sometimes inherited from an affected parent. In these cases, the condition has an autosomal dominant pa...
How is pigmented villonodular synovitis diagnosed? Pigmented villonodular synovitis (PVNS) is diagnosed via physician examination, imaging studies, and sometimes surgical procedures. Imaging studies commonly used include: X-ray, MRI, and CT scan. MRI findings are diagnostic in more than 95% of patients. CT scan finding...
Instead of dialysis, some people with kidney failure -- including older adults -- may be able to receive a kidney transplant. This involves having a healthy kidney from another person surgically placed into your body. The new, donated kidney does the work that your two failed kidneys used to do. The donated kidney can ...
Cramp-fasciculation syndrome (CFS) is a rare condition of the muscles. Affected people have persistent muscle twitching (fasciculations) and cramping, which can lead to muscle discomfort, pain, or tiredness. Muscles in the leg are most commonly affected, although this condition may involve several parts of the body. Sy...
Although the skin abnormalities usually regress, and sometimes disappear completely, there may be residual neurological difficulties.
The most common signs and symptoms of ulcerative colitis are diarrhea with blood or pus and abdominal discomfort. Other signs and symptoms include - an urgent need to have a bowel movement - feeling tired - nausea or loss of appetite - weight loss - fever - anemiaa condition in which the body has ...
How is primary carnitine deficiency inherited? Primary carnitine deficiency is inherited in an autosomal recessive manner. Individuals have two copies of each gene, one of which is inherited from each parent. For an individual to have an autosomal recessive condition, he/she must have a mutation in both copies of the d...
Primary ciliary dyskinesia (PCD) is a rare disease that affects both males and females. The disease also affects people from all racial and ethnic groups. Some people who have PCD have breathing problems from the moment of birth. However, other people can go through all or most of their lives without k...
SCA1 affects 1 to 2 per 100,000 people worldwide.
The NINDS conducts and supports research on diabetic neuropathy to increase understanding of the disorder and find ways to prevent and cure it. New medications are currently being examined to assess improvement or stabilization of neuropathic symptoms.
Giant congenital melanocytic nevus occurs in approximately 1 in 20,000 newborns worldwide.
Yellow nail syndrome is characterized by yellow nails that lack a cuticle, grow slowly, and are loose or detached (onycholysis). Yellow nail syndrome is often associated with diseases of the lung or lymphedema. Yellow nail syndrome often affects older adults, though it can occur at any age. While the exact cause of t...
Signs and symptoms of juvenile myelomonocytic leukemia include fever, weight loss, and feeling very tired. These and other signs and symptoms may be caused by JMML or by other conditions. Check with your doctor if you have any of the following: - Fever for no known reason. - Having infections, such as bronc...
These resources address the diagnosis or management of essential pentosuria: - Genetic Testing Registry: Essential pentosuria These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Geneti...
Certain factors affect prognosis (chance of recovery) and treatment options.The prognosis (chance of recovery) and treatment options depend on the following: - The stage of the cancer (the size of the tumor and whether it is in the breast only or has spread to other parts of the body). - The type of breast c...
- Diverticular disease is more common in people as they grow older. - A low-fiber diet is the most likely cause of the disease. - Most people are treated with a high-fiber diet and pain medication. - Add whole grain foods, high-fiber fruits, and vegetables to your diet. - Contact a doctor if you notice symptoms suc...
How might Wernicke-Korsakoff syndrome be treated?
Like Alzheimers disease and Parkinsons disease, DLB is a neurodegenerative disorder that results in progressive intellectual and functional deterioration. There are no known therapies to stop or slow the progression of DLB. Average survival after the time of diagnosis is similar to that in Alzheimers disease, about 8 y...
These resources address the diagnosis or management of Pallister-Hall syndrome: - Gene Review: Gene Review: Pallister-Hall Syndrome - Genetic Testing Registry: Pallister-Hall syndrome - MedlinePlus Encyclopedia: Epiglottis (Image) - MedlinePlus Encyclopedia: Imperforate Anus - MedlinePlus Encyclopedia: Polydactyly...
Warfarin sensitivity is a condition that is characterized by a reduced tolerance for a "blood-thinning" medication called warfarin. Warfarin is an anticoagulant that is often prescribed to people who are at an increased risk for blood clots. People with a warfarin sensitivity respond more strongly to lower doses of war...
The incidence of cherubism is unknown. At least 250 cases have been reported worldwide.