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Simple kidney cysts are abnormal, fluid-filled sacs that form in the kidneys. Simple kidney cysts are different from the cysts that develop when a person has polycystic kidney disease (PKD), which is a genetic disorder. Simple kidney cysts do not enlarge the kidneys, replace their normal structure, or cause reduced kid...
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 ATXN3 gene is passed down from one generation to the next, the length of the CAG t...
X-linked dominant chondrodysplasia punctata (CDPX2), also known as Conradi-Hnermann-Happle syndrome, is a rare form of skeletal dysplasia characterized by skeletal malformations, skin abnormalities, cataracts and short stature. The specific symptoms and severity of the disorder may vary greatly from one individual to a...
Spondyloperipheral dysplasia is one of a spectrum of skeletal disorders caused by mutations in the COL2A1 gene. This 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 ...
The infection is usually diagnosed by identification of Paragonimus eggs in sputum. The eggs are sometimes found in stool samples (coughed-up eggs are swallowed). A tissue biopsy is sometimes performed to look for eggs in a tissue specimen. Specific and sensitive antibody tests based on P. westermani antigens are ...
Mutations in the AMT and GLDC genes cause glycine encephalopathy. About 80 percent of cases of glycine encephalopathy result from mutations in the GLDC gene, while AMT mutations cause 10 percent to 15 percent of all cases. In a small percentage of affected individuals, the cause of this condition is unknown. The AMT ...
X-linked infantile spasm syndrome is a seizure disorder characterized by a type of seizure known as infantile spasms. The spasms usually appear before the age of 1. Several types of spasms have been described, but the most commonly reported involves bending at the waist and neck with extension of the arms and legs (som...
Granuloma annulare is a long-term (chronic) skin disease consisting of a rash with reddish bumps arranged in a circle or ring. The most commonly affected areas are the forearms, hands and feet. The lesions associated with granuloma annulare usually resolve without treatment. Strong steroids (applied as a cream or injec...
What causes esthestioneuroblastoma? The cause of esthesioneuroblastoma is currently unknown.
Yes. A number of medications may put people at risk for developing hyperuricemia and gout. They include - diuretics, which are taken to eliminate excess fluid from the body in conditions like hypertension, edema, and heart disease, and which decrease the amount of uric acid passed in the urine. (High levels of uric aci...
This condition is inherited in an X-linked recessive pattern. A condition is considered X-linked if the mutated gene that causes the disorder is located on the X chromosome, 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 co...
Osteoporosis-pseudoglioma syndrome is inherited in an autosomal recessive pattern, which means both copies of the LRP5 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 co...
These resources address the diagnosis or management of recurrent hydatidiform mole: - American Cancer Society: Signs and Symptoms of Gestational Trophoblastic Disease - Genetic Testing Registry: Hydatidiform mole - Genetic Testing Registry: Hydatidiform mole, recurrent, 2 - MedlinePlus Encyclopedia: Choriocarcinoma...
Phosphoglycerate mutase deficiency is caused by mutations in the PGAM2 gene. This gene provides instructions for making an enzyme called phosphoglycerate mutase, which is involved in a critical energy-producing process in cells known as glycolysis. During glycolysis, the simple sugar glucose is broken down to produce e...
How might congenital anosmia be treated? Unfortunately, there is currently no known cure or treatment for congenital anosmia.
Fucosidosis is a rare condition; approximately 100 cases have been reported worldwide. This condition appears to be most prevalent in Italy, Cuba, and the southwestern United States.
Humans can become infected through tick bites or through contact with the blood, feces, or urine of an infected, sick, or dead animal – most commonly, rodents. Occupational and recreational activities such as hunting or trapping may increase human risk of infection. Transmission may also occur with no direct tick or...
Although the exact prevalence of succinate-CoA ligase deficiency is unknown, it appears to be very rare. This condition occurs more frequently among people from the Faroe Islands in the North Atlantic Ocean.
How might multicentric Castleman disease be treated? The treatment of multicentric Castleman disease (MCD) varies based on the severity of the condition and whether or not the patient has an HIV and/or human herpes virus type 8 (HHV-8) infection. Possible treatment options include: Immunotherapy can be used to block th...
GPA is a rare disorder that affects an estimated 3 in 100,000 people in the United States.
Cancer begins in cells, which make up the blood and other tissues. Normally, cells grow, divide, and produce more cells as needed to keep the body healthy and functioning properly. Sometimes, however, the process of creating a new cell goes wrong -- cells become abnormal and form more cells in an uncontrolled way.
The prevalence of myofibrillar myopathy is unknown.
Miyoshi myopathy is a muscle disorder that primarily affects muscles away from the center of the body (distal muscles), such as those in the legs. During early to mid-adulthood, affected individuals typically begin to experience muscle weakness and wasting (atrophy) in one or both calves. If only one leg is affected, t...
The prevalence of Alpers-Huttenlocher syndrome is approximately 1 in 100,000 individuals.
Beare-Stevenson cutis gyrata syndrome is a rare genetic disorder; its incidence is unknown. Fewer than 20 people with this condition have been reported worldwide.
Spinocerebellar ataxia 2 (SCA2) is a progressive disorder that causes symptoms including uncoordinated movement (ataxia), speech and swallowing difficulties, muscle wasting, slow eye movement, and sometimes dementia. Signs and symptoms usually begin in mid-adulthood but can appear any time from childhood to late-adulth...
How might malignant eccrine spiradenoma be treated? Surgery to remove as much of the tumor as possible is usually the first step of treatment for malignant eccrine spiradenoma. Both a traditional surgical technique known as wide local excision and the newer Mohs micrographic surgery are thought to be effective for tre...
The prevalence of distal hereditary motor neuropathy, type II is unknown. At least 25 affected families have been identified worldwide.
Stiff-person syndrome (SPS) is a rare neurological disorder with features of an autoimmune disease. SPS is characterized by fluctuating muscle rigidity in the trunk and limbs and a heightened sensitivity to stimuli such as noise, touch, and emotional distress, which can set off muscle spasms. Abnormal postures, often h...
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.
16p11.2 deletion syndrome is considered to have an autosomal dominant inheritance pattern because a deletion in one copy of chromosome 16 in each cell is sufficient to cause the condition. However, most cases of 16p11.2 deletion syndrome are not inherited. The deletion occurs most often as a random event during the for...
IRAK-4 deficiency is caused by mutations in the IRAK4 gene, which provides instructions for making a protein that plays an important role in stimulating the immune system to respond to infection. The IRAK-4 protein is part of a signaling pathway that is involved in early recognition of foreign invaders (pathogens) and ...
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. At least 25 percent of Marfan syndrome cases result from a new mutation in the FBN1 gene. These cases occur in people with no history of the disorder in their family.
Vitiligo causes white patches on your skin. It can also affect your eyes, mouth, and nose. It occurs when the cells that give your skin its color are destroyed. No one knows what destroys them. It is more common in people with autoimmune diseases, and it might run in families. It usually starts before age 40. The w...
Multiple epiphyseal dysplasia (MED) is a group of disorders of cartilage and bone development, primarily affecting the ends of the long bones in the arms and legs (epiphyses). There are two types of MED, which are distinguished by their patterns of inheritance - autosomal dominant and autosomal recessive. Signs and sym...
The NINDS conducts and supports a wide range of studies that explore the complex systems of normal brain development, including neuronal migration. Recent studies have identified genes that are responsible for lissencephaly. The knowledge gained from these studies provides the foundation for developing treatments and p...
Your backbone, or spine, is made up of 26 bones called vertebrae. In between them are soft disks filled with a jelly-like substance. These disks cushion the vertebrae and keep them in place. As you age, the disks break down or degenerate. As they do, they lose their cushioning ability. This can lead to pain if the back...
Inguinal hernias can cause the following complications: - Incarceration. An incarcerated hernia happens when part of the fat or small intestine from inside the abdomen becomes stuck in the groin or scrotum and cannot go back into the abdomen. A health care provider is unable to massage the hernia back ...
The two kidneys are bean-shaped organs located just below the rib cage, one on each side of the spine. Everyday, the two kidneys filter about 120 to 150 quarts of blood to produce about 1 to 2 quarts of urine, composed of wastes and extra fluid. Blood enters the kidneys through arteries that branch ins...
Treatments your doctor will likely recommend before knee replacement include - exercises to strengthen the muscles around the knee and improve flexibility - weight loss, if needed, to reduce the load the knee must bear - walking aids such as canes to reduce stress on the joint - shoe inserts to improve the knees a...
Here are some ways you can learn more about Alzheimers disease. - Talk with a doctor or other healthcare provider who specializes in Alzheimers disease. - Check out books or videos about Alzheimers from the library. - Go to educational programs about the disease. - Visit the website of the National Institute on Agi...
What are the signs and symptoms of Tiglic acidemia? The Human Phenotype Ontology provides the following list of signs and symptoms for Tiglic acidemia. 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...
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 purpose of treatment for polycythemia vera is to reduce the number of extra blood cells. Treatment of polycythemia vera may include the following: - Phlebotomy. - Chemotherapy with or without phlebotomy. - Biologic therapy using interferon alfa or pegylated interferon alpha. - Low-dose as...
The incidence of Legg-Calv-Perthes disease varies by population. The condition is most common in white populations, in which it affects an estimated 1 to 3 in 20,000 children under age 15.
Throughout childhood, the risk of having a UTI is 2 percent for boys and 8 percent for girls. Having an anomaly of the urinary tract, such as urine reflux from the bladder back into the ureters, increases the risk of a UTI. Boys who are younger than 6 months old who are not circumcised are at greater risk for a UTI tha...
The prevalence of cytochrome P450 oxidoreductase deficiency is unknown. About 65 cases have been reported worldwide. Researchers suspect that cytochrome P450 oxidoreductase deficiency is underdiagnosed and that mild cases of this disorder may be relatively common. Because the signs and symptoms can be difficult to det...
Mutations in the ESCO2 gene cause Roberts syndrome. This gene provides instructions for making a protein that is important for proper chromosome separation during cell division. Before cells divide, they must copy all of their chromosomes. The copied DNA from each chromosome is arranged into two identical structures, c...
Hypothalamic dysfunction refers to a condition in which the hypothalamus is not working properly. The hypothalamus produces hormones that control body temperature, hunger, moods, release of hormones from many glands such as the pituitary gland, sex drive, sleep, and thirst. The signs and symptoms patients have vary dep...
Insulin resistance is a condition in which the body produces insulin but does not use it effectively. When people have insulin resistance, glucose builds up in the blood instead of being absorbed by the cells, leading to type 2 diabetes or prediabetes. Most people with insulin resistance don't know the...
How is Bartter syndrome inherited? Bartter syndrome is inherited in an autosomal recessive manner, which means that both copies of the disease-causing gene (one inherited from each parent) have a mutation in an affected individual. Parents who each carry one mutated copy of the gene are referred to as carriers and typi...
These resources address the diagnosis or management of cyclic neutropenia: - Gene Review: Gene Review: ELANE-Related Neutropenia - Genetic Testing Registry: Cyclical neutropenia - Seattle Children's Hospital These resources from MedlinePlus offer information about the diagnosis and management of various health con...
The incidence of von Hippel-Lindau syndrome is estimated to be 1 in 36,000 individuals.
Fibrochondrogenesis is generally 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 usually do not show signs and symptoms of the condition. In ...
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 inherits the mutation from one affected parent. Other cases result from new mutations in the gene and occur in people with no histor...
Beta-ketothiolase deficiency appears to be very rare. It is estimated to affect fewer than 1 in 1 million newborns.
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.
Klinefelter syndrome (KS) is a condition that occurs in males when they have an extra X chromosome. Some males with KS have no obvious signs or symptoms while others may have varying degrees of cognitive, social, behavioral, and learning difficulties. Adults with Klinefelter syndrome may also experience primary hypogon...
Isovaleric acidemia is estimated to affect at least 1 in 250,000 people in the United States.
What causes inflammatory myofibroblastic tumors? The underlying cause of inflammatory myofibroblastic tumors (IMTs) remains unknown. While some researchers believe it is a true neoplasm, others believe that it represents an immunologic response to an infectious or noninfectious agent. Several associations have been rep...
These resources address the diagnosis or management of Langerhans cell histiocytosis: - Cincinnati Children's Hospital Medical Center - Cleveland Clinic - Genetic Testing Registry: Langerhans cell histiocytosis, multifocal - National Cancer Institute: Langerhans Cell Histiocytosis Treatment - Seattle Children's Ho...
These resources address the diagnosis or management of infantile neuronal ceroid lipofuscinosis: - Genetic Testing Registry: Ceroid lipofuscinosis neuronal 1 - Genetic Testing Registry: Infantile neuronal ceroid lipofuscinosis These resources from MedlinePlus offer information about the diagnosis and management of ...
Summary : A urinalysis is a test of your urine. It is often done to check for a urinary tract infections, kidney problems, or diabetes. You may also have one during a checkup, if you are admitted to the hospital, before you have surgery, or if you are pregnant. It can also monitor some medical conditions and treatments...
Autosomal recessive optic atrophy, hearing loss, and peripheral neuropathy is a neurological condition described by Iwashita et al. in 1969 in a Korean brother and sister. This condition is characterized by variable degrees of hearing loss, distal weakness and loss of muscle tissue (atrophy) in the upper limbs, variabl...
The main symptom of short bowel syndrome is diarrhealoose, watery stools. Diarrhea can lead to dehydration, malnutrition, and weight loss. Dehydration means the body lacks enough fluid and electrolyteschemicals in salts, including sodium, potassium, and chlorideto work properly. Malnutrition is a condition that develop...
How is Coffin-Siris syndrome diagnosed? Diagnosis of Coffin-Siris syndrome is largely based upon the presence or absence of common signs and symptoms in the individual. While formal diagnostic criteria have not been established, most individuals with a clinical diagnosis of Coffin-Siris syndrome have certain features i...
SADDAN (severe achondroplasia with developmental delay and acanthosis nigricans) is a rare disorder of bone growth characterized by skeletal, brain, and skin abnormalities. All people with this condition have extremely short stature with particularly short arms and legs. Other features include unusual bowing of the le...
Joubert syndrome and related disorders can be caused by mutations in at least 10 genes. The proteins produced from these genes are known or suspected to play roles in cell structures called cilia. Cilia are microscopic, finger-like projections that stick out from the surface of cells and are involved in chemical signal...
Most cases of lung cancer are not related to inherited gene changes. These cancers are associated with somatic mutations that occur only in certain cells in the lung. When lung cancer is related to inherited gene changes, the cancer risk is inherited in an autosomal dominant pattern, which means one copy of the altere...
Charcot-Marie-Tooth disease type 1A (CMT1A) is a type of inherited neurological disorder that affects the peripheral nerves. Affected individuals experience weakness and wasting (atrophy) of the muscles of the lower legs beginning in adolescence; later they experience hand weakness and sensory loss. CMT1A is caused by ...
More detailed information on heart failure is available at http://www.nhlbi.nih.gov/health/dci
These resources address the diagnosis or management of retroperitoneal fibrosis: - Johns Hopkins Medicine These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Pal...
What causes laryngeal cleft? During fetal development, the trachea and esophagus begin as one tube. They later separate when a wall of tissue known as the tracheoesophageal septum forms, dividing the original tube into the trachea and esophagus. If the tracheoesophageal septum fails to form, the trachea and esophagus...
ADCY5-related dyskinesia is a movement disorder that is characterized by several different types of involuntary movements. Affected people generally develop sudden jerks, twitches, tremors, muscle tensing, and/or writhing movements between infancy and late adolescence. The arms, legs, neck and face are most commonly in...
Mutations in the CATSPER1 gene cause CATSPER1-related nonsyndromic male infertility. The CATSPER1 gene provides instructions for producing a protein that is found in the tail of sperm cells. The CATSPER1 protein is involved in the movement of the sperm tail, which propels the sperm forward and is required for sperm cel...
DRPLA is caused by a mutation in the ATN1 gene. This gene provides instructions for making a protein called atrophin 1. Although the function of atrophin 1 is unclear, it likely plays an important role in nerve cells (neurons) in many areas of the brain. The ATN1 mutation that underlies DRPLA involves a DNA segment kn...
These resources address the diagnosis or management of MCHS: - Gene Review: Gene Review: POLG-Related Disorders - United Mitochondrial Disease Foundation: Diagnosis of Mitochondrial Disease These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnos...
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. Most cases of Floating-Harbor syndrome result from new mutations in the gene and occur in people with no history of the disorder in their family. However, in some cas...
Isolated congenital diaphragmatic hernia is rarely inherited. In almost all cases, there is only one affected individual in a family. When congenital diaphragmatic hernia occurs as a feature of a genetic syndrome or chromosomal abnormality, it may cluster in families according to the inheritance pattern for that condi...
These resources address the diagnosis or management of frontometaphyseal dysplasia: - Gene Review: Gene Review: Otopalatodigital Spectrum Disorders - Genetic Testing Registry: Frontometaphyseal dysplasia These resources from MedlinePlus offer information about the diagnosis and management of various health conditio...
What are the signs and symptoms of Pulmonic stenosis? The Human Phenotype Ontology provides the following list of signs and symptoms for Pulmonic stenosis. 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 Dictionar...
Protein C deficiency is a disorder that increases a person's risk to develop abnormal blood clots. The condition can be mild or severe. People with mild protein C deficiency are at risk for a type of clot called deep vein thrombosis (DVT). A DVT can travel through the bloodstream and become stuck in the lung, which can...
Buerger disease is a disease of the arteries and veins in the arms and legs. The arteries and veins become inflamed which can lead to narrowed and blocked vessels. This reduces blood flow resulting in pain and eventually damage to affected tissues. Buerger disease nearly always occurs in association with cigarette or o...
How is Coats disease inherited? In most cases, Coats disease is not inherited. Eighty to 90% of affected people have no evidence of a genetic predisposition to the condition and no affected family members. Rarely, Coats disease can be inherited as a feature of several different genetic syndromes. For example, Coats dis...
All forms of adenylosuccinate lyase deficiency are caused by mutations in the ADSL gene. This gene provides instructions for making an enzyme called adenylosuccinate lyase, which performs two steps in the process that produces purine nucleotides. These nucleotides are building blocks of DNA, its chemical cousin RNA, an...
Much of the research on RS focuses on answering fundamental questions about the disorder such as how problems in the body's metabolism may trigger the nervous system damage characteristic of RS and what role aspirin plays in this life-threatening disorder. The ultimate goal of this research is to improve scientific und...
2-hydroxyglutaric aciduria is a rare disorder. D-2-HGA and L-2-HGA have each been reported to affect fewer than 150 individuals worldwide. Combined D,L-2-HGA appears to be even rarer, with only about a dozen reported cases.
The National Institute of Neurological Disorders and Stroke (NINDS) and other institutes of the National Institutes of Health (NIH) conduct research related to HAM/TSP in laboratories at the NIH, and support additional research through grants to major medical institutions across the country. Much of this research focus...
Congenital deafness with vitiligo and achalasia is a syndrome characterized by deafness present from birth (congenital), associated with short stature, vitiligo, muscle wasting and achalasia (swallowing difficulties). The condition was described in a brother and sister born to first cousin parents. It is believed to be...
Kienbock's disease is a condition characterized by interruption of blood supply to one of the small bones of the hand near the wrist (the lunate). If blood supply to a bone stops, the bone can die; this is known as osteonecrosis. Affected people may first think they have a sprained wrist and may have experienced trauma...
Is Denys-Drash syndrome inherited? Denys-Drash syndrome 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 cases of Denys-Drash syndrome result from new (de novo) mutations in the gene that occur during the formation of reproduc...
These resources address the diagnosis or management of Jackson-Weiss syndrome: - Gene Review: Gene Review: FGFR-Related Craniosynostosis Syndromes - Genetic Testing Registry: Jackson-Weiss syndrome - MedlinePlus Encyclopedia: Craniosynostosis These resources from MedlinePlus offer information about the diagnosis a...
Cyclic neutropenia 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 inherits the mutation from one affected parent. Other cases result from new mutations in the gene and occur in people with no hi...
What are the signs and symptoms of Spermatogenesis arrest? The Human Phenotype Ontology provides the following list of signs and symptoms for Spermatogenesis arrest. 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...
Platelet storage pool deficiency refers to a group of conditions that are caused by problems with the platelet granules. Platelet granules are tiny storage sacs found within the platelets which release various substances to help stop bleeding. Platelet storage pool deficiencies occur when platelet granules are absent, ...
This condition is inherited in an X-linked recessive pattern. The gene associated with this condition is located on the X chromosome, which is one of the two sex chromosomes. In males (who have only one X chromosome), one altered copy of the gene in each cell is sufficient to cause the condition. In females (who have t...
Familial paroxysmal kinesigenic dyskinesia can be caused by mutations in the PRRT2 gene. The function of the protein produced from this gene is unknown, although it is thought to be involved in the development and function of the brain. Studies suggest that the PRRT2 protein interacts with a protein that helps control ...
In many cases, the cause of pericarditis (both acute and chronic) is unknown. Viral infections are likely a common cause of pericarditis, although the virus may never be found. Pericarditis often occurs after a respiratory infection. Bacterial, fungal, and other infections also can cause pericarditis. ...
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.
Pulmonary arterial hypertension is a progressive disorder characterized by abnormally high blood pressure (hypertension) in the pulmonary artery, the blood vessel that carries blood from the heart to the lungs. Pulmonary arterial hypertension is one form of a broader condition known as pulmonary hypertension. Pulmonary...