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The NINDS conducts and supports a wide range of fundamental studies that explore the complex mechanisms of normal brain development. Much of this research focuses on finding better ways to protect, treat, and ultimately cure disorders such as hydrocephalus. |
Some cases of viral hepatitis cannot be attributed to the hepatitis A, B, C, D, or E viruses, or even the less common viruses that can infect the liver, such as cytomegalovirus, Epstein-Barr virus, herpesvirus, parvovirus, and adenovirus. These cases are called non-AE hepatitis. Scientists continue to study the causes ... |
The prognosis for for people with encephalitis or meningitis varies. Some cases are mild, short and relatively benign and individuals have full recovery, although the process may be slow. Individuals who experience mild symptoms may recover in 2-4 weeks. Other cases are severe, and permanent impairment or death is poss... |
Usher syndrome is a genetic condition characterized by hearing loss or deafness, and progressive vision loss due to retinitis pigmentosa. Three major types of Usher syndrome have been described - types I, II, and III. The different types are distinguished by their severity and the age when signs and symptoms appear. A... |
How is punctate palmoplantar keratoderma type I diagnosed? Features that support the diagnosis of punctate palmoplantar keratoderma type I include a positive family history (i.e., other affected family members), the presence of multiple tiny hard rounded bumps of thickened skin on the hands and feet, and certain cell h... |
Various drugs are under study as possible treatments for colorectal cancer. A 2005 study found that patients who took the drug AvastinTM with their standard chemotherapy treatment had a longer progression-free survival than those who did not take Avastin, but the evidence is mixed on whether or not Avastin can extend l... |
Liddle syndrome is an inherited form of high blood pressure (hypertension). This condition is characterized by severe hypertension that begins unusually early in life, often in childhood, although some affected individuals are not diagnosed until adulthood. Some people with Liddle syndrome have no additional signs or s... |
Crouzonodermoskeletal syndrome is a disorder characterized by the premature joining of certain bones of the skull (craniosynostosis) during development and a skin condition called acanthosis nigricans. The signs and symptoms of Crouzonodermoskeletal syndrome overlap with those of a similar condition called Crouzon syn... |
Allergic disorders tend to run in families; having a parent with atopic dermatitis, asthma, or hay fever raises the chances a person will develop atopic dermatitis. When associated with FLG gene mutations, atopic dermatitis follows an autosomal dominant inheritance pattern, which means one copy of the altered FLG gene ... |
TRAPS has an estimated prevalence of one per million individuals; it is the second most common inherited recurrent fever syndrome, following a similar condition called familial Mediterranean fever. More than 1,000 people worldwide have been diagnosed with TRAPS. |
Pulmonary arterial hypertension (PAH) is a progressive condition that affects the heart and lungs. It is characterized by abnormally high blood pressure (hypertension) in the pulmonary artery, the blood vessel that carries blood from the heart to the lungs. The most common signs and symptoms are shortness of breath (dy... |
These resources address the diagnosis or management of Refsum disease: - Gene Review: Gene Review: Refsum Disease - Gene Review: Gene Review: Retinitis Pigmentosa Overview - Genetic Testing Registry: Phytanic acid storage disease - MedlinePlus Encyclopedia: Retinitis Pigmentosa These resources from MedlinePlus of... |
Gamma heavy chain disease is characterized by the abnormal production of antibodies. Antibodies are made up of light chains and heavy chains. In this disorder, the heavy chain of the gamma antibody (IgG) is overproduced by the body. Gamma heavy chain disease mainly affects older adults and is similar to aggressive mal... |
Partington syndrome is caused by mutations in the ARX gene. This gene provides instructions for producing a protein that regulates the activity of other genes. Within the developing brain, the ARX protein is involved with movement (migration) and communication of nerve cells (neurons). In particular, this protein regul... |
These resources address the diagnosis or management of sporadic hemiplegic migraine: - Genetic Testing Registry: Migraine, sporadic hemiplegic - Journal of the American Medical Association Patient Page: Migraine Headache These resources from MedlinePlus offer information about the diagnosis and management of variou... |
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 National Institute of Neurological Disorders and Stroke (NINDS) and other institutes of the National Institutes of Health (NIH) conduct research related to coma in their laboratories at the NIH and also support additional research through grants to major medical institutions across the country. Much of this researc... |
Renal oncocytoma is a benign (noncancerous) growth of the kidney. They generally do not cause any signs or symptoms and are often discovered incidentally (by chance) while a person is undergoing diagnostic imaging for other conditions. Some people with renal oncocytoma will have abdominal or flank pain; blood in the ur... |
What causes microscopic polyangiitis (MPA)? The cause of MPA is unknown. It is not contagious, does not usually run in families, and is not a form of cancer. The immune system is thought to play a critical role in the development of MPA. It is thought that the immune system becomes overactive and causes blood vessel a... |
What causes alpha-1 antitrypsin deficiency? Alpha-1 antitrypsin deficiency (AATD) is caused by mutations in the SERPINA1 gene. This gene gives the body instructions to make a protein called alpha-1 antitrypsin (AAT), which protects the body from an enzyme called neutrophil elastase. Neutrophil elastase helps the body f... |
Kaposi's sarcoma is a cancer that causes patches of abnormal tissue to grow under the skin, in the lining of the mouth, nose, and throat or in other organs. The patches are usually red or purple and are made of cancer cells and blood cells. The red and purple patches often cause no symptoms, though they may be painful.... |
Over 100 cases of spastic paraplegia type 11 have been reported. Although this condition is thought to be rare, its exact prevalence is unknown. |
Amelogenesis imperfecta is a disorder of tooth development. This condition causes teeth to be unusually small, discolored, pitted or grooved, and prone to rapid wear and breakage. Other dental abnormalities are also possible. These defects, which vary among affected individuals, can affect both primary (baby) teeth and... |
Hereditary myopathy with early respiratory failure (HMERF) is an inherited muscle disease that predominantly affects muscles close to the center of the body (proximal muscles) and muscles that are needed for breathing. The major signs and symptoms of HMERF usually appear in adulthood, on average around age 35. Among t... |
Approximately 100 individuals with SCA36 have been reported in the scientific literature. Almost all of these individuals have been from two regions: western Japan and the Costa de Morte in Galicia, Spain. |
Kernicterus is a rare condition that affects the brain. It refers to a form of brain damage that occurs when neonatal jaundice goes untreated for too long. The severity of the condition and the associated signs and symptoms vary significantly from person to person. People living with kernicterus may experience athetoid... |
How is Warthin tumor diagnosed? A diagnosis of Warthin tumor is often suspected based on the presence of characteristic signs and symptoms. The following tests may then be ordered to confirm the diagnosis and rule out other conditions that cause similar features: X-rays of the salivary gland (called a ptyalogram or sia... |
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 skin helps protect you from germs, but sometimes it can get infected by them. Some common types of skin infections are - Bacterial: Cellulitis and impetigo. Staphylococcal infections can also affect the skin. - Viral: Shingles, warts, and herpes simplex - Fungal: Athlete's foot and yeast infections ... |
Ankylosing spondylitis is part of a group of related diseases known as spondyloarthropathies. In the United States, spondyloarthropathies affect 3.5 to 13 per 1,000 people. |
Hemoglobin E (HbE) disease is an inherited blood disorder characterized by an abnormal form of hemoglobin, called hemoglobin E. People with this condition have red blood cells that are smaller than normal and have an irregular shape. HbE disease is thought to be a benign condition. It is inherited in an autosomal reces... |
Hyperferritinemia-cataract syndrome is a disorder characterized by an excess of an iron storage protein called ferritin in the blood (hyperferritinemia) and tissues of the body. A buildup of this protein begins early in life, leading to clouding of the lenses of the eyes (cataracts). In affected individuals, cataracts ... |
Summary : We all need to drink water. How much you need depends on your size, activity level, and the weather where you live. The water you drink is a combination of surface water and groundwater. Surface water includes rivers, lakes and reservoirs. Groundwater comes from underground. The United States has one of th... |
Here are links to more information about P.A.D. from the National Heart, Lung, and Blood Institute. - What Is Peripheral Arterial Disease? - Atherosclerosis - The DASH Eating Plan - Facts about P.A.D. - Facts about P.A.D. (Spanish) - Facts About P.A.D. for African Americans - Keep the Beat: Heart Healthy Rec... |
Porphyria cutanea tarda (PCT) is a form of porphyria that primarily affects the skin. People affected by this condition generally experience "photosensitivity," which causes painful, blistering lesions to develop on sun-exposed areas of the skin (i.e. the hands and face). Skin in these areas may also be particularly fr... |
A fracture is a break, usually in a bone. If the broken bone punctures the skin, it is called an open or compound fracture. Fractures commonly happen because of car accidents, falls, or sports injuries. Other causes are low bone density and osteoporosis, which cause weakening of the bones. Overuse can cause stress frac... |
The cornea is the clear, dome-shaped outer surface that covers the eye in front of the iris, which is the colored part of the eye. The cornea helps protect the rest of the eye from germs, dust, and other harmful matter. The cornea is a highly organized, clear structure made up of a group of cells and proteins precisely... |
Approximately 17 percent, or 36 million, of American adults say that they have some degree of hearing loss. Hearing loss is a common condition in older adults. Roughly one-third of Americans 65 to 74 years of age and 47 percent of those 75 and older have hearing loss. |
Is von Willebrand disease always inherited from a parent? Most, but not all, cases of von Willebrand disease (VWD) are inherited. The majority of cases of type 1 and type 2A, as well as type 2B and type 2M, are inherited in an autosomal dominant manner. VWD type 2N, type 3, and some cases of type 1 and type 2A are inhe... |
The brachial plexus is a network of nerves that conducts signals from the spine to the shoulder, arm, and hand. Brachial plexus injuries are caused by damage to those nerves. Erb-Duchenne (Erb's) palsy refers to paralysis of the upper brachial plexus. Dejerine-Klumpke (Klumpke's) palsy refers to paralysis of the lower ... |
What causes sialadenitis? Sialadenitis usually occurs after hyposecretion (reduced flow from the salivary glands) or duct obstruction, but may develop without an obvious cause. Saliva flow can be reduced in people who are sick or recovering from surgery, or people who are dehydrated, malnourished, or immunosuppressed. ... |
Achondrogenesis is a group of severe disorders that are present from birth and affect the development of cartilage and bone. Infants with achondrogenesis usually have a small body, short arms and legs, and other skeletal abnormalities that cause life-threatening complications. There are at least three forms of achondr... |
These resources address the diagnosis or management of essential tremor: - Genetic Testing Registry: Hereditary essential tremor 1 - Johns Hopkins Movement Disorders Center - MedlinePlus Encyclopedia: Essential Tremor These resources from MedlinePlus offer information about the diagnosis and management of various ... |
The brachial plexus is a network of nerves that conducts signals from the spine to the shoulder, arm, and hand. Brachial plexus injuries are caused by damage to those nerves. Symptoms may include a limp or paralyzed arm; lack of muscle control in the arm, hand, or wrist; and a lack of feeling or sensation in the arm or... |
The disease tends to advance rapidly over the course of 5 to 10 years, with progressive loss of motor skills, eventual confinement to bed, and death. There is no remission from the disease. There is currently no cure. |
Polycystic kidney disease is a genetic disorder that causes numerous cysts to grow in the kidneys. A kidney cyst is an abnormal sac filled with fluid. PKD cysts can greatly enlarge the kidneys while replacing much of their normal structure, resulting in chronic kidney disease (CKD), which causes reduced kidney function... |
Tranebjaerg Svejgaard syndrome is a rare condition that is characterized by intellectual disability, seizures and psoriasis. It has been reported in four male cousins. The underlying genetic cause of the condition is currently unknown; however, it is thought to be inherited in an X-linked manner. Treatment is based on ... |
How is SHORT syndrome inherited? SHORT syndrome is inherited in an autosomal dominant pattern. For conditions with autosomal dominant inheritance, one abnormal copy of the causative gene in each cell is sufficient to cause signs and symptoms of the condition. The abnormal copy of the gene may be inherited from an affe... |
Being exposed to certain chemicals or dust in the workplace can increase the risk of paranasal sinus and nasal cavity 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 n... |
Premature ovarian failure (POF) is when a woman's ovaries stop working before she is 40. POF is different from premature menopause. With premature menopause, your periods stop before age 40. You can no longer get pregnant. The cause can be natural or it can be a disease, surgery, chemotherapy, or radiation. With POF... |
How might hemiplegic migraine be treated? Treatment of hemiplegic migraine varies depending on severity and which symptoms are most problematic for the patient. In general, treatments aim to manage symptoms. Drugs that are effective in the prevention of common migraines may be used in hemiplegic migraine. Prophylactic ... |
Enthesitis-related juvenile idiopathic arthritis is a subtype of juvenile idiopathic arthritis that is characterized by both arthritis and inflammation of an enthesitis site (the point at which a ligament, tendon, or joint capsule attaches to the bone). Signs and symptoms generally develop in late childhood or early ad... |
The prevalence of X-linked chondrodysplasia punctata 1 is unknown. Several dozen affected males have been reported in the scientific literature. |
What causes prune belly syndrome? The underlying cause of prune belly syndrome is unknown. The condition may occur if there is a blockage preventing the flow of urine through the urinary tract. The blockage can cause the urine to flow back into the bladder, enlarging it. |
Complete LCAT deficiency is a rare disorder. Approximately 70 cases have been reported in the medical literature. |
Eosinophilic fasciitis is a very rare condition in which muscle tissue underneath the skin, called fascia, becomes swollen and thick. Rapid swelling can occur in the hands, arms, legs, and feet. People with this condition have a buildup of eosinophils, a type of white blood cell, in the affected fascia and muscles. The... |
The dystonias are movement disorders in which sustained muscle contractions cause twisting and repetitive movements or abnormal postures. The movements, which are involuntary and sometimes painful, may affect a single muscle; a group of muscles such as those in the arms, legs, or neck; or the entire body. Early symptom... |
These resources address the diagnosis or management of FXPOI: - Gene Review: Gene Review: FMR1-Related Disorders - Genetic Testing Registry: Premature ovarian failure 1 These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug The... |
Mutations in the KCNE1 and KCNQ1 genes cause Jervell and Lange-Nielsen syndrome. The KCNE1 and KCNQ1 genes provide instructions for making proteins that work together to form a channel across cell membranes. These channels transport positively charged potassium atoms (ions) out of cells. The movement of potassium ions... |
Most heart attacks involve discomfort in the center of the chest that lasts more than a few minutes or goes away and comes back. The discomfort can feel like uncomfortable pressure, squeezing, fullness, or pain. It can include pain or numbness in one or both arms, the back, neck, jaw, or stomach. Heart attack pain can ... |
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. Only people who... |
L1 syndrome is a mild to severe congenital disorder with hydrocephalus of varying degrees of severity, intellectual disability, spasticity of the legs, and adducted thumbs. It includes several conditions, some more severe than others: X-linked hydrocephalus with stenosis of the aqueduct of Sylvius (HSAS) - the most sev... |
Joubert syndrome typically has an autosomal recessive pattern of inheritance, which means both copies of a 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 usually do not show signs and symptoms of the condition. Rare... |
A sign of adult soft tissue sarcoma is a lump or swelling in soft tissue of the body. A sarcoma may appear as a painless lump under the skin, often on an arm or a leg. Sarcomas that begin in the abdomen may not cause signs or symptoms until they get very big. As the sarcoma grows bigger and presses on nearby organs, ne... |
un exposure and having a weak immune system can affect the risk of Merkel cell carcinoma. 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 with your doctor ... |
Most individuals will have only one episode of transverse myelitis. Recovery usually begins within 2 to 12 weeks of the onset of symptoms and may continue for up to 2 years and in some cases longer--requiring aggressive physical therapy and rehabilitation. However, if there is no improvement within the first 3 to 6 mon... |
There is no cure for DLB. Treatments are aimed at controlling the cognitive, psychiatric, and motor symptoms of the disorder. Acetylcholinesterase inhibitors, such as donepezil and rivastigmine, are primarily used to treat the cognitive symptoms of DLB, but they may also be of some benefit in reducing the psychiatric a... |
These resources address the diagnosis or management of CM-AVM: - Gene Review: Gene Review: RASA1-Related Disorders - Genetic Testing Registry: Capillary malformation-arteriovenous malformation These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diag... |
High PTH levels trigger the bones to release increased amounts of calcium into the blood, causing blood calcium levels to rise above normal. The loss of calcium from bones may weaken the bones. Also, the small intestine may absorb more calcium from food, adding to the excess calcium in the blood. In response to high bl... |
Mutations in the TCOF1, POLR1C, or POLR1D gene can cause Treacher Collins syndrome. TCOF1 gene mutations are the most common cause of the disorder, accounting for 81 to 93 percent of all cases. POLR1C and POLR1D gene mutations cause an additional 2 percent of cases. In individuals without an identified mutation in one ... |
How might Bethlem myopathy be treated? The treatment for Behtlem myopathy is symptomatic and supportive. This means that treatment is directed at the individual symptoms that are present in each case. There is no cure. In most cases, physical therapy, stretching exercises, splinting, and/or mobility aids are employed. ... |
Cartilage-hair hypoplasia occurs most often in the Old Order Amish population, where it affects about 1 in 1,300 newborns. In people of Finnish descent, its incidence is approximately 1 in 20,000. Outside of these populations, the condition is rare, and its specific incidence is not known. It has been reported in indiv... |
These resources address the diagnosis or management of Nijmegen breakage syndrome: - Boston Children's Hospital: Pneumonia in Children - Boston Children's Hospital: Sinusitis in Children - Cleveland Clinic: Bronchitis - Gene Review: Gene Review: Nijmegen Breakage Syndrome - Genetic Testing Registry: Microcephaly, ... |
This condition is rare, affecting an estimated 1 in 500,000 to 1 in 1 million newborns. In most parts of the world, tetrahydrobiopterin deficiency accounts for 1 to 3 percent of all cases of elevated phenylalanine levels. The remaining cases are caused by a similar condition called phenylketonuria (PKU). In certain cou... |
Does your child seem much shorter - or much taller - than other kids his or her age? It could be normal. Some children may be small for their age but still be developing normally. Some children are short or tall because their parents are. But some children have growth disorders. Growth disorders are problems that pr... |
Usher syndrome is a genetic condition characterized by hearing loss or deafness, and progressive vision loss due to retinitis pigmentosa. Three major types of Usher syndrome have been described - types I, II, and III. The different types are distinguished by their severity and the age when signs and symptoms appear. A... |
Your hip is the joint where your thigh bone meets your pelvis bone. Hips are called ball-and-socket joints because the ball-like top of your thigh bone moves within a cup-like space in your pelvis. Your hips are very stable. When they are healthy, it takes great force to hurt them. However, playing sports, running, ove... |
Permanent neonatal diabetes mellitus is a type of diabetes that first appears within the first 6 months of life and persists throughout the lifespan. This form of diabetes is characterized by high blood sugar levels (hyperglycemia) resulting from a shortage of the hormone insulin. Insulin controls how much glucose (a t... |
Dopamine transporter deficiency syndrome appears to be a rare disease; only about 20 affected individuals have been described in the medical literature. Researchers believe that the condition is probably underdiagnosed because its signs and symptoms overlap with cerebral palsy and other movement disorders. |
Is it hard for your child to sit still? Does your child act without thinking first? Does your child start but not finish things? If so, your child may have attention deficit hyperactivity disorder (ADHD). Nearly everyone shows some of these behaviors at times, but ADHD lasts more than 6 months and causes problems in sc... |
SJS/TEN is a rare disease, affecting 1 to 2 per million people each year. Stevens-Johnson syndrome (the less severe form of the condition) is more common than toxic epidermal necrolysis. People who are HIV-positive and those with a chronic inflammatory disease called systemic lupus erythematosus are more likely to dev... |
How might florid cemento-osseous dysplasia be treated? In many cases florid cemento-osseous dysplasia does not require treatment, however careful follow-up may be warranted. When the condition causes discomfort, pain, or disfigurement, the treatment plan is tailored to the patient. The following article describes the t... |
How is Pendred syndrome inherited? Pendred syndrome is inherited in an autosomal recessive manner. For most autosomal recessive conditions, a person must have 2 changed (mutated) copies of the responsible gene in each cell in order to have the condition. One changed copy of the responsible gene is usually inherited fro... |
There is no specific course of treatment for Moebius syndrome. Treatment is supportive and in accordance with symptoms. Infants may require feeding tubes or special bottles to maintain sufficient nutrition. Surgery may correct crossed eyes and improve limb and jaw deformities. Physical and speech therapy often improves... |
Familial hypertrophic cardiomyopathy affects an estimated 1 in 500 people worldwide. It is the most common genetic heart disease in the United States. |
Mutations in the PLP1 gene cause spastic paraplegia 2. The PLP1 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 brain and spinal cord (central nervous system) and are the ma... |
What causes pars planitis? The exact underlying cause of pars planitis is unknown. Scientists suspect that it is an autoimmune condition in which the body's immune system mistakenly attacks healthy tissues (certain parts of the eyes, in this case). This is further supported by the fact that pars planitis is sometimes a... |
Mutations in the MECP2 gene cause MECP2-related severe neonatal encephalopathy. The MECP2 gene provides instructions for making a protein called MeCP2 that is critical for normal brain function. Researchers believe that this protein has several functions, including regulating other genes in the brain by switching them ... |
Unverricht-Lundborg disease is a rare inherited form of epilepsy. Affected individuals usually begin showing signs and symptoms of the disorder between the ages of 6 and 15. Unverricht-Lundborg disease is classified as a type of progressive myoclonus epilepsy. People with this disorder experience episodes of involunta... |
When fibronectin glomerulopathy is caused by mutations in the FN1 gene, it 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 of these cases, an affected person inherits the mutation from one affected parent. Other cases resu... |
Marden-Walker syndrome is a connective tissue disorder characterized by a mask-like face with blepharophimosis (a narrowing of the eye opening), micrognathia, cleft or high-arched palate, low-set ears, congenital joint contractures, decreased muscular mass, failure to thrive and psychomotor retardation (a generalized s... |
Primary central nervous system lymphoma (primary CNS lymphoma) is a rare form of non-Hodgkin lymphoma in which cancerous cells develop in the lymph tissue of the brain and/or spinal cord. Because the eye is so close to the brain, primary CNS lymphoma can also start in the eye (called ocular lymphoma). The signs and sym... |
Mutations in the COL11A2 gene cause OSMED. The COL11A2 gene is one of several genes that provide instructions for the production of type XI collagen. This type of collagen is important for the normal development of bones and other connective tissues that form the body's supportive framework. Mutations in the COL11A2 ge... |
There is no cure for central cord syndrome although some people recover near-normal function. There is no standard course of treatment, although drug therapy, surgery, and rest are often part of the program. Magnetic resonance imaging (MRI) is used to indicate the degree of spinal cord compression and vertebral instabi... |
What causes lymphocytic vasculitis? Lymphocytic vasculitis is thought to be caused by a number of different factors, such as infection, trauma, drug reaction, or an underlying condition such as arthritis. Because this condition is rare and not yet well understood, it is believed that a full list of possible causes has... |
Medicare Part A is hospital insurance that helps cover inpatient care in hospitals. Part A also helps cover skilled nursing facility care for a limited period of time, hospice care, and home health care, if you meet certain conditions. Most people don't have to pay a monthly premium for Medicare Part A when they turn a... |
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. |
LAMM syndrome is a rare condition, although its prevalence is unknown. Approximately a dozen affected families have been identified. |
Horizontal gaze palsy with progressive scoliosis (HGPPS) is a rare disorder that affects vision and also causes an abnormal curvature of the spine (scoliosis). People with this condition are unable to move their eyes side-to-side (horizontally) and must turn their head instead of moving their eyes to track moving objec... |
Atypical hemolytic-uremic syndrome (aHUS) is a disease that causes abnormal blood clots to form in small blood vessels in the kidneys. These clots can cause serious medical problems if they restrict or block blood flow, including hemolytic anemia, thrombocytopenia, and kidney failure. It can occur at any age and is oft... |
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