problem stringlengths 16 191 | explanation stringlengths 6 29k ⌀ | type stringlengths 3 136 ⌀ |
|---|---|---|
What is (are) spastic paraplegia type 7 ? | Spastic paraplegia type 7 is part of a group of genetic disorders known as hereditary spastic paraplegias. These disorders are characterized by progressive muscle stiffness (spasticity) and the development of paralysis of the lower limbs (paraplegia). Hereditary spastic paraplegias are divided into two types: pure and ... | spastic paraplegia type 7 |
How many people are affected by spastic paraplegia type 7 ? | The prevalence of all hereditary spastic paraplegias combined is estimated to be 2 to 6 in 100,000 people worldwide. Spastic paraplegia type 7 likely accounts for only a small percentage of all spastic paraplegia cases. | spastic paraplegia type 7 |
What are the genetic changes related to spastic paraplegia type 7 ? | Mutations in the SPG7 gene cause spastic paraplegia type 7. The SPG7 gene provides instructions for producing a protein called paraplegin. Located within the inner membrane of the energy-producing centers of cells (mitochondria), paraplegin is one of the proteins that form a complex called the m-AAA protease. The m-AAA... | spastic paraplegia type 7 |
Is spastic paraplegia type 7 inherited ? | 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. | spastic paraplegia type 7 |
What are the treatments for spastic paraplegia type 7 ? | These resources address the diagnosis or management of spastic paraplegia type 7: - Gene Review: Gene Review: Hereditary Spastic Paraplegia Overview - Gene Review: Gene Review: Spastic Paraplegia 7 - Genetic Testing Registry: Spastic paraplegia 7 - Spastic Paraplegia Foundation, Inc.: Treatments and Therapies The... | spastic paraplegia type 7 |
What is (are) Hajdu-Cheney syndrome ? | Hajdu-Cheney syndrome is a rare disorder that can affect many parts of the body, particularly the bones. Loss of bone tissue from the hands and feet (acro-osteolysis) is a characteristic feature of the condition. The fingers and toes are short and broad, and they may become shorter over time as bone at the tips continu... | Hajdu-Cheney syndrome |
How many people are affected by Hajdu-Cheney syndrome ? | Hajdu-Cheney syndrome is a rare disease; its prevalence is unknown. Fewer than 100 affected individuals have been described in the medical literature. | Hajdu-Cheney syndrome |
What are the genetic changes related to Hajdu-Cheney syndrome ? | Hajdu-Cheney syndrome is associated with mutations in the NOTCH2 gene. This gene provides instructions for making a receptor called Notch2. Receptor proteins have specific sites into which certain other proteins, called ligands, fit like keys into locks. When a ligand binds to the Notch2 receptor, it triggers signals t... | Hajdu-Cheney syndrome |
Is Hajdu-Cheney syndrome inherited ? | This condition is inherited in an autosomal dominant pattern, which means one copy of the altered NOTCH2 gene in each cell is sufficient to cause the disorder. Most cases result from new mutations in the gene and occur in people with no history of the disorder in their family. Less commonly, an affected person inherits... | Hajdu-Cheney syndrome |
What are the treatments for Hajdu-Cheney syndrome ? | These resources address the diagnosis or management of Hajdu-Cheney syndrome: - Genetic Testing Registry: Hajdu-Cheney syndrome These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Gene... | Hajdu-Cheney syndrome |
What is (are) triple X syndrome ? | Triple X syndrome, also called trisomy X or 47,XXX, is characterized by the presence of an additional X chromosome in each of a female's cells. Although females with this condition may be taller than average, this chromosomal change typically causes no unusual physical features. Most females with triple X syndrome have... | triple X syndrome |
How many people are affected by triple X syndrome ? | This condition occurs in about 1 in 1,000 newborn girls. Five to 10 girls with triple X syndrome are born in the United States each day. | triple X syndrome |
What are the genetic changes related to triple X syndrome ? | People normally have 46 chromosomes in each cell. Two of the 46 chromosomes, known as X and Y, are called sex chromosomes because they help determine whether a person will develop male or female sex characteristics. Females typically have two X chromosomes (46,XX), and males have one X chromosome and one Y chromosome (... | triple X syndrome |
Is triple X syndrome inherited ? | Most cases of triple X syndrome are not inherited. The chromosomal change usually occurs as a random event during the formation of reproductive cells (eggs and sperm). An error in cell division called nondisjunction can result in reproductive cells with an abnormal number of chromosomes. For example, an egg or sperm ce... | triple X syndrome |
What are the treatments for triple X syndrome ? | These resources address the diagnosis or management of triple X syndrome: - Association for X and Y Chromosome Variations (AXYS): Trisomy X Syndrome - Genetic Testing Registry: Trisomy X syndrome These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - D... | triple X syndrome |
What is (are) cerebral cavernous malformation ? | Cerebral cavernous malformations are collections of small blood vessels (capillaries) in the brain that are enlarged and irregular in structure. These capillaries have abnormally thin walls, and they lack other support tissues, such as elastic fibers, which normally make them stretchy. As a result, the blood vessels ar... | cerebral cavernous malformation |
How many people are affected by cerebral cavernous malformation ? | Cerebral cavernous malformations affect about 0.5 percent of the population worldwide. | cerebral cavernous malformation |
What are the genetic changes related to cerebral cavernous malformation ? | Mutations in at least three genes, KRIT1 (also known as CCM1), CCM2, and PDCD10 (also known as CCM3), cause familial cerebral cavernous malformations. The precise functions of these genes are not fully understood. Studies show that the proteins produced from these genes are found in the junctions connecting neighborin... | cerebral cavernous malformation |
Is cerebral cavernous malformation inherited ? | This condition has an autosomal dominant pattern of inheritance, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In the familial form, an affected person inherits the mutation from one affected parent. Most people with cerebral cavernous malformations have the sporadic form o... | cerebral cavernous malformation |
What are the treatments for cerebral cavernous malformation ? | These resources address the diagnosis or management of cerebral cavernous malformation: - Angioma Alliance: Imaging and Diagnostics - Gene Review: Gene Review: Familial Cerebral Cavernous Malformation - Genetic Testing Registry: Cerebral cavernous malformation - Genetic Testing Registry: Cerebral cavernous malforma... | cerebral cavernous malformation |
What is (are) complement component 2 deficiency ? | Complement component 2 deficiency is a disorder that causes the immune system to malfunction, resulting in a form of immunodeficiency. Immunodeficiencies are conditions in which the immune system is not able to protect the body effectively from foreign invaders such as bacteria and viruses. People with complement compo... | complement component 2 deficiency |
How many people are affected by complement component 2 deficiency ? | In Western countries, complement component 2 deficiency is estimated to affect 1 in 20,000 individuals; its prevalence in other areas of the world is unknown. | complement component 2 deficiency |
What are the genetic changes related to complement component 2 deficiency ? | Complement component 2 deficiency is caused by mutations in the C2 gene. This gene provides instructions for making the complement component 2 protein, which helps regulate a part of the body's immune response known as the complement system. The complement system is a group of proteins that work together to destroy for... | complement component 2 deficiency |
Is complement component 2 deficiency inherited ? | 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. | complement component 2 deficiency |
What are the treatments for complement component 2 deficiency ? | These resources address the diagnosis or management of complement component 2 deficiency: - Genetic Testing Registry: Complement component 2 deficiency - MedlinePlus Encyclopedia: Complement - MedlinePlus Encyclopedia: Immunodeficiency Disorders - Primary Immune Deficiency Treatment Consortium These resources fro... | complement component 2 deficiency |
What is (are) aromatic l-amino acid decarboxylase deficiency ? | Aromatic l-amino acid decarboxylase (AADC) deficiency is an inherited disorder that affects the way signals are passed between certain cells in the nervous system. Signs and symptoms of AADC deficiency generally appear in the first year of life. Affected infants may have severe developmental delay, weak muscle tone (h... | aromatic l-amino acid decarboxylase deficiency |
How many people are affected by aromatic l-amino acid decarboxylase deficiency ? | AADC deficiency is a rare disorder. Only about 100 people with this condition have been described in the medical literature worldwide; about 20 percent of these individuals are from Taiwan. | aromatic l-amino acid decarboxylase deficiency |
What are the genetic changes related to aromatic l-amino acid decarboxylase deficiency ? | Mutations in the DDC gene cause AADC deficiency. The DDC gene provides instructions for making the AADC enzyme, which is important in the nervous system. This enzyme helps produce dopamine and serotonin from other molecules. Dopamine and serotonin are neurotransmitters, which are chemical messengers that transmit signa... | aromatic l-amino acid decarboxylase deficiency |
Is aromatic l-amino acid decarboxylase deficiency inherited ? | 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. | aromatic l-amino acid decarboxylase deficiency |
What are the treatments for aromatic l-amino acid decarboxylase deficiency ? | These resources address the diagnosis or management of aromatic l-amino acid decarboxylase deficiency: - Genetic Testing Registry: Deficiency of aromatic-L-amino-acid decarboxylase These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests ... | aromatic l-amino acid decarboxylase deficiency |
What is (are) Stormorken syndrome ? | Stormorken syndrome is a rare condition that affects many body systems. Affected individuals usually have thrombocytopenia, in which there are abnormally low numbers of blood cells called platelets. Platelets are involved in normal blood clotting; a shortage of platelets typically results in easy bruising and abnormal ... | Stormorken syndrome |
How many people are affected by Stormorken syndrome ? | Stormorken syndrome is a rare disorder. Approximately a dozen cases have been reported in the medical literature. | Stormorken syndrome |
What are the genetic changes related to Stormorken syndrome ? | Stormorken syndrome is caused by a mutation in the STIM1 gene. The protein produced from this gene is involved in controlling the entry of positively charged calcium atoms (calcium ions) into cells. The STIM1 protein recognizes when calcium ion levels are low and stimulates the flow of ions into the cell through specia... | Stormorken syndrome |
Is Stormorken syndrome inherited ? | 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 some 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 history... | Stormorken syndrome |
What are the treatments for Stormorken syndrome ? | These resources address the diagnosis or management of Stormorken syndrome: - Genetic Testing Registry: Stormorken syndrome These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic ... | Stormorken syndrome |
What is (are) Naegeli-Franceschetti-Jadassohn syndrome/dermatopathia pigmentosa reticularis ? | Naegeli-Franceschetti-Jadassohn syndrome/dermatopathia pigmentosa reticularis (NFJS/DPR) represents a rare type of ectodermal dysplasia, a group of about 150 conditions characterized by abnormal development of ectodermal tissues including the skin, hair, nails, teeth, and sweat glands. NFJS and DPR were originally desc... | Naegeli-Franceschetti-Jadassohn syndrome/dermatopathia pigmentosa reticularis |
How many people are affected by Naegeli-Franceschetti-Jadassohn syndrome/dermatopathia pigmentosa reticularis ? | NFJS/DPR is a rare condition; its prevalence is unknown. Only a few affected families have been reported in the medical literature. | Naegeli-Franceschetti-Jadassohn syndrome/dermatopathia pigmentosa reticularis |
What are the genetic changes related to Naegeli-Franceschetti-Jadassohn syndrome/dermatopathia pigmentosa reticularis ? | NFJS/DPR results from mutations in the KRT14 gene. This gene provides instructions for making a protein called keratin 14. Keratins are tough, fibrous proteins that provide strength and resiliency to the outer layer of the skin (the epidermis). Researchers believe that keratin 14 may also play a role in the formation o... | Naegeli-Franceschetti-Jadassohn syndrome/dermatopathia pigmentosa reticularis |
Is Naegeli-Franceschetti-Jadassohn syndrome/dermatopathia pigmentosa reticularis inherited ? | 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. | Naegeli-Franceschetti-Jadassohn syndrome/dermatopathia pigmentosa reticularis |
What are the treatments for Naegeli-Franceschetti-Jadassohn syndrome/dermatopathia pigmentosa reticularis ? | These resources address the diagnosis or management of NFJS/DPR: - Foundation for Ichthyosis and Related Skin Types (FIRST): Palmoplantar Keratodermas - Genetic Testing Registry: Dermatopathia pigmentosa reticularis - Genetic Testing Registry: Naegeli-Franceschetti-Jadassohn syndrome - MedlinePlus Encyclopedia: Ect... | Naegeli-Franceschetti-Jadassohn syndrome/dermatopathia pigmentosa reticularis |
What is (are) trisomy 18 ? | Trisomy 18, also called Edwards syndrome, is a chromosomal condition associated with abnormalities in many parts of the body. Individuals with trisomy 18 often have slow growth before birth (intrauterine growth retardation) and a low birth weight. Affected individuals may have heart defects and abnormalities of other o... | trisomy 18 |
How many people are affected by trisomy 18 ? | Trisomy 18 occurs in about 1 in 5,000 live-born infants; it is more common in pregnancy, but many affected fetuses do not survive to term. Although women of all ages can have a child with trisomy 18, the chance of having a child with this condition increases as a woman gets older. | trisomy 18 |
What are the genetic changes related to trisomy 18 ? | Most cases of trisomy 18 result from having three copies of chromosome 18 in each cell in the body instead of the usual two copies. The extra genetic material disrupts the normal course of development, causing the characteristic features of trisomy 18. Approximately 5 percent of people with trisomy 18 have an extra co... | trisomy 18 |
Is trisomy 18 inherited ? | Most cases of trisomy 18 are not inherited, but occur as random events during the formation of eggs and sperm. An error in cell division called nondisjunction results in a reproductive cell with an abnormal number of chromosomes. For example, an egg or sperm cell may gain an extra copy of chromosome 18. If one of these... | trisomy 18 |
What are the treatments for trisomy 18 ? | These resources address the diagnosis or management of trisomy 18: - Genetic Testing Registry: Complete trisomy 18 syndrome - MedlinePlus Encyclopedia: Trisomy 18 These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy ... | trisomy 18 |
What is (are) sick sinus syndrome ? | Sick sinus syndrome (also known as sinus node dysfunction) is a group of related heart conditions that can affect how the heart beats. "Sick sinus" refers to the sino-atrial (SA) node, which is an area of specialized cells in the heart that functions as a natural pacemaker. The SA node generates electrical impulses tha... | sick sinus syndrome |
How many people are affected by sick sinus syndrome ? | Sick sinus syndrome accounts for 1 in 600 patients with heart disease who are over age 65. The incidence of this condition increases with age. | sick sinus syndrome |
What are the genetic changes related to sick sinus syndrome ? | Sick sinus syndrome can result from genetic or environmental factors. In many cases, the cause of the condition is unknown. Genetic changes are an uncommon cause of sick sinus syndrome. Mutations in two genes, SCN5A and HCN4, have been found to cause the condition in a small number of families. These genes provide ins... | sick sinus syndrome |
Is sick sinus syndrome inherited ? | Most cases of sick sinus syndrome are not inherited. They are described as sporadic, which means they occur in people with no history of the disorder in their family. When sick sinus syndrome results from mutations in the HCN4 gene, it has an autosomal dominant pattern of inheritance. Autosomal dominant inheritance me... | sick sinus syndrome |
What are the treatments for sick sinus syndrome ? | These resources address the diagnosis or management of sick sinus syndrome: - Cleveland Clinic: Management of Arrhythmias - Genetic Testing Registry: Sick sinus syndrome 1, autosomal recessive - Genetic Testing Registry: Sick sinus syndrome 2, autosomal dominant - Genetic Testing Registry: Sick sinus syndrome 3, su... | sick sinus syndrome |
What is (are) infantile systemic hyalinosis ? | Infantile systemic hyalinosis is a disorder that severely affects many areas of the body, including the skin, joints, bones, and internal organs. Hyalinosis refers to the abnormal accumulation of a clear (hyaline) substance in body tissues. The signs and symptoms of this condition are present at birth or develop within... | infantile systemic hyalinosis |
How many people are affected by infantile systemic hyalinosis ? | The prevalence of infantile systemic hyalinosis is unknown. Fewer than 20 people with this disorder have been reported. | infantile systemic hyalinosis |
What are the genetic changes related to infantile systemic hyalinosis ? | Mutations in the ANTXR2 gene (also known as the CMG2 gene) cause infantile systemic hyalinosis. The ANTXR2 gene provides instructions for making a protein involved in the formation of tiny blood vessels (capillaries). Researchers believe that the ANTXR2 protein is also important for maintaining the structure of basemen... | infantile systemic hyalinosis |
Is infantile systemic hyalinosis inherited ? | 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. | infantile systemic hyalinosis |
What are the treatments for infantile systemic hyalinosis ? | These resources address the diagnosis or management of infantile systemic hyalinosis: - Gene Review: Gene Review: Hyalinosis, Inherited Systemic - Genetic Testing Registry: Hyaline fibromatosis syndrome - MedlinePlus Encyclopedia: Protein-losing enteropathy These resources from MedlinePlus offer information about ... | infantile systemic hyalinosis |
What is (are) autosomal recessive congenital methemoglobinemia ? | Autosomal recessive congenital methemoglobinemia is an inherited condition that mainly affects the function of red blood cells. Specifically, it alters a molecule within these cells called hemoglobin. Hemoglobin carries oxygen to cells and tissues throughout the body. In people with autosomal recessive congenital methe... | autosomal recessive congenital methemoglobinemia |
How many people are affected by autosomal recessive congenital methemoglobinemia ? | The incidence of autosomal recessive congenital methemoglobinemia is unknown. | autosomal recessive congenital methemoglobinemia |
What are the genetic changes related to autosomal recessive congenital methemoglobinemia ? | Autosomal recessive congenital methemoglobinemia is caused by mutations in the CYB5R3 gene. This gene provides instruction for making an enzyme called cytochrome b5 reductase 3. This enzyme is involved in transferring negatively charged particles called electrons from one molecule to another. Two versions (isoforms) of... | autosomal recessive congenital methemoglobinemia |
Is autosomal recessive congenital methemoglobinemia inherited ? | 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. | autosomal recessive congenital methemoglobinemia |
What are the treatments for autosomal recessive congenital methemoglobinemia ? | These resources address the diagnosis or management of autosomal recessive congenital methemoglobinemia: - Genetic Testing Registry: METHEMOGLOBINEMIA, TYPE I - Genetic Testing Registry: Methemoglobinemia type 2 - KidsHealth from Nemours: Blood Test: Hemoglobin - MedlinePlus Encyclopedia: Hemoglobin - MedlinePlus ... | autosomal recessive congenital methemoglobinemia |
What is (are) periventricular heterotopia ? | Periventricular heterotopia is a condition in which nerve cells (neurons) do not migrate properly during the early development of the fetal brain, from about the 6th week to the 24th week of pregnancy. Heterotopia means "out of place." In normal brain development, neurons form in the periventricular region, located aro... | periventricular heterotopia |
How many people are affected by periventricular heterotopia ? | Periventricular heterotopia is a rare condition. Its incidence is unknown. | periventricular heterotopia |
What are the genetic changes related to periventricular heterotopia ? | Periventricular heterotopia is related to chromosome 5. Mutations in the ARFGEF2 and FLNA genes cause periventricular heterotopia. In most cases, periventricular heterotopia is caused by mutations in the FLNA gene. This gene provides instructions for producing the protein filamin A, which helps build the network of p... | periventricular heterotopia |
Is periventricular heterotopia inherited ? | Periventricular heterotopia can have different inheritance patterns. When this condition is caused by mutations in the FLNA gene, it is inherited in an X-linked dominant 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 chromosom... | periventricular heterotopia |
What are the treatments for periventricular heterotopia ? | These resources address the diagnosis or management of periventricular heterotopia: - Gene Review: Gene Review: FLNA-Related Periventricular Nodular Heterotopia - Genetic Testing Registry: Heterotopia, periventricular, associated with chromosome 5p anomalies - Genetic Testing Registry: Heterotopia, periventricular, ... | periventricular heterotopia |
What is (are) Chanarin-Dorfman syndrome ? | Chanarin-Dorfman syndrome is a condition in which fats (lipids) are stored abnormally in the body. Affected individuals cannot break down certain fats called triglycerides, and these fats accumulate in organs and tissues, including skin, liver, muscles, intestine, eyes, and ears. People with this condition also have dr... | Chanarin-Dorfman syndrome |
How many people are affected by Chanarin-Dorfman syndrome ? | Chanarin-Dorfman syndrome is a rare condition; its incidence is unknown. | Chanarin-Dorfman syndrome |
What are the genetic changes related to Chanarin-Dorfman syndrome ? | Mutations in the ABHD5 gene cause Chanarin-Dorfman syndrome. The ABHD5 gene provides instructions for making a protein that turns on (activates) the ATGL enzyme, which breaks down triglycerides. Triglycerides are the main source of stored energy in cells. These fats must be broken down into simpler molecules called fat... | Chanarin-Dorfman syndrome |
Is Chanarin-Dorfman syndrome inherited ? | 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. | Chanarin-Dorfman syndrome |
What are the treatments for Chanarin-Dorfman syndrome ? | These resources address the diagnosis or management of Chanarin-Dorfman syndrome: - Genetic Testing Registry: Triglyceride storage disease with ichthyosis - MedlinePlus Encyclopedia: Ichthyosis vulgaris These resources from MedlinePlus offer information about the diagnosis and management of various health condition... | Chanarin-Dorfman syndrome |
What is (are) Larsen syndrome ? | Larsen syndrome is a disorder that affects the development of bones throughout the body. The signs and symptoms of Larsen syndrome vary widely even within the same family. Affected individuals are usually born with inward- and upward-turning feet (clubfeet) and dislocations of the hips, knees, and elbows. They generall... | Larsen syndrome |
How many people are affected by Larsen syndrome ? | Larsen syndrome occurs in approximately 1 in 100,000 newborns. | Larsen syndrome |
What are the genetic changes related to Larsen syndrome ? | Mutations in the FLNB gene cause Larsen syndrome. The FLNB gene provides instructions for making a protein called filamin B. This protein helps build the network of protein filaments (cytoskeleton) that gives structure to cells and allows them to change shape and move. Filamin B attaches (binds) to another protein call... | Larsen syndrome |
Is Larsen syndrome inherited ? | 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 some 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 history... | Larsen syndrome |
What are the treatments for Larsen syndrome ? | These resources address the diagnosis or management of Larsen syndrome: - Gene Review: Gene Review: FLNB-Related Disorders - Genetic Testing Registry: Larsen syndrome - Genetic Testing Registry: Larsen syndrome, dominant type These resources from MedlinePlus offer information about the diagnosis and management of ... | Larsen syndrome |
What is (are) carnitine palmitoyltransferase II deficiency ? | Carnitine palmitoyltransferase II (CPT II) deficiency is a condition that prevents the body from using certain fats for energy, particularly during periods without food (fasting). There are three main types of CPT II deficiency: a lethal neonatal form, a severe infantile hepatocardiomuscular form, and a myopathic form.... | carnitine palmitoyltransferase II deficiency |
How many people are affected by carnitine palmitoyltransferase II deficiency ? | CPT II deficiency is a rare disorder. The lethal neonatal form has been described in at least 18 families, while the severe infantile hepatocardiomuscular form has been identified in approximately 30 families. The myopathic form occurs most frequently, with more than 300 reported cases. | carnitine palmitoyltransferase II deficiency |
What are the genetic changes related to carnitine palmitoyltransferase II deficiency ? | Mutations in the CPT2 gene cause CPT II deficiency. This gene provides instructions for making an enzyme called carnitine palmitoyltransferase 2. This enzyme is essential for fatty acid oxidation, which is the multistep process that breaks down (metabolizes) fats and converts them into energy. Fatty acid oxidation take... | carnitine palmitoyltransferase II deficiency |
Is carnitine palmitoyltransferase II deficiency inherited ? | 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. | carnitine palmitoyltransferase II deficiency |
What are the treatments for carnitine palmitoyltransferase II deficiency ? | These resources address the diagnosis or management of CPT II deficiency: - Baby's First Test - FOD (Fatty Oxidation Disorders) Family Support Group: Diagnostic Approach to Disorders of Fat Oxidation - Information for Clinicians - Gene Review: Gene Review: Carnitine Palmitoyltransferase II Deficiency - Genetic Test... | carnitine palmitoyltransferase II deficiency |
What is (are) Bietti crystalline dystrophy ? | Bietti crystalline dystrophy is a disorder in which numerous small, yellow or white crystal-like deposits of fatty (lipid) compounds accumulate in the light-sensitive tissue that lines the back of the eye (the retina). The deposits damage the retina, resulting in progressive vision loss. People with Bietti crystalline... | Bietti crystalline dystrophy |
How many people are affected by Bietti crystalline dystrophy ? | Bietti crystalline dystrophy has been estimated to occur in 1 in 67,000 people. It is more common in people of East Asian descent, especially those of Chinese and Japanese background. Researchers suggest that Bietti crystalline dystrophy may be underdiagnosed because its symptoms are similar to those of other eye disor... | Bietti crystalline dystrophy |
What are the genetic changes related to Bietti crystalline dystrophy ? | Bietti crystalline dystrophy is caused by mutations in the CYP4V2 gene. This gene provides instructions for making a member of the cytochrome P450 family of enzymes. These enzymes are involved in the formation and breakdown of various molecules and chemicals within cells. The CYP4V2 enzyme is involved in a multi-step p... | Bietti crystalline dystrophy |
Is Bietti crystalline dystrophy inherited ? | 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. | Bietti crystalline dystrophy |
What are the treatments for Bietti crystalline dystrophy ? | These resources address the diagnosis or management of Bietti crystalline dystrophy: - Gene Review: Gene Review: Bietti Crystalline Dystrophy - Genetic Testing Registry: Bietti crystalline corneoretinal dystrophy These resources from MedlinePlus offer information about the diagnosis and management of various health... | Bietti crystalline dystrophy |
What is (are) cold-induced sweating syndrome ? | Cold-induced sweating syndrome is characterized by problems with regulating body temperature and other abnormalities affecting many parts of the body. In infancy, the features of this condition are often known as Crisponi syndrome. Researchers originally thought that cold-induced sweating syndrome and Crisponi syndrome... | cold-induced sweating syndrome |
How many people are affected by cold-induced sweating syndrome ? | Cold-induced sweating syndrome is a rare condition; its prevalence is unknown. The condition was first identified in the Sardinian population, but it has since been reported in regions worldwide. | cold-induced sweating syndrome |
What are the genetic changes related to cold-induced sweating syndrome ? | About 90 percent of cases of cold-induced sweating syndrome and Crisponi syndrome result from mutations in the CRLF1 gene. These cases are designated as CISS1. The remaining 10 percent of cases are caused by mutations in the CLCF1 gene and are designated as CISS2. The proteins produced from the CRLF1 and CLCF1 genes w... | cold-induced sweating syndrome |
Is cold-induced sweating syndrome inherited ? | Cold-induced sweating syndrome is inherited in anautosomal recessive pattern, which means both copies of the CRLF1 or CLCF1 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 t... | cold-induced sweating syndrome |
What are the treatments for cold-induced sweating syndrome ? | These resources address the diagnosis or management of cold-induced sweating syndrome: - Gene Review: Gene Review: Cold-Induced Sweating Syndrome including Crisponi Syndrome - Genetic Testing Registry: Cold-induced sweating syndrome 1 - Genetic Testing Registry: Cold-induced sweating syndrome 2 - Merck Manual Consu... | cold-induced sweating syndrome |
What is (are) spinal and bulbar muscular atrophy ? | Spinal and bulbar muscular atrophy, also known as Kennedy disease, is a disorder of specialized nerve cells that control muscle movement (motor neurons). These nerve cells originate in the spinal cord and the part of the brain that is connected to the spinal cord (the brainstem). Spinal and bulbar muscular atrophy mai... | spinal and bulbar muscular atrophy |
How many people are affected by spinal and bulbar muscular atrophy ? | This condition affects fewer than 1 in 150,000 males and is very rare in females. | spinal and bulbar muscular atrophy |
What are the genetic changes related to spinal and bulbar muscular atrophy ? | Spinal and bulbar muscular atrophy results from a particular type of mutation in the AR gene. This gene provides instructions for making a protein called an androgen receptor. This receptor attaches (binds) to a class of hormones called androgens, which are involved in male sexual development. Androgens and androgen re... | spinal and bulbar muscular atrophy |
Is spinal and bulbar muscular atrophy inherited ? | This condition is inherited in an X-linked 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), a mutation in the only copy of the gene in each cell causes the disorder. In most... | spinal and bulbar muscular atrophy |
What are the treatments for spinal and bulbar muscular atrophy ? | These resources address the diagnosis or management of spinal and bulbar muscular atrophy: - Gene Review: Gene Review: Spinal and Bulbar Muscular Atrophy - Genetic Testing Registry: Bulbo-spinal atrophy X-linked - MedlinePlus Encyclopedia: Muscle Atrophy These resources from MedlinePlus offer information about the... | spinal and bulbar muscular atrophy |
What is (are) Cowden syndrome ? | Cowden syndrome is a disorder characterized by multiple noncancerous, tumor-like growths called hamartomas and an increased risk of developing certain cancers. Almost everyone with Cowden syndrome develops hamartomas. These growths are most commonly found on the skin and mucous membranes (such as the lining of the mou... | Cowden syndrome |
How many people are affected by Cowden syndrome ? | Although the exact prevalence of Cowden syndrome is unknown, researchers estimate that it affects about 1 in 200,000 people. | Cowden syndrome |
What are the genetic changes related to Cowden syndrome ? | Changes involving at least four genes, PTEN, SDHB, SDHD, and KLLN, have been identified in people with Cowden syndrome or Cowden-like syndrome. Most cases of Cowden syndrome and a small percentage of cases of Cowden-like syndrome result from mutations in the PTEN gene. The protein produced from the PTEN gene is a tumo... | Cowden syndrome |
Is Cowden syndrome inherited ? | Cowden syndrome and Cowden-like syndrome are inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the condition and increase the risk of developing cancer. In some cases, an affected person inherits the mutation from one affected parent. Other cases ma... | Cowden syndrome |
What are the treatments for Cowden syndrome ? | These resources address the diagnosis or management of Cowden syndrome: - Gene Review: Gene Review: PTEN Hamartoma Tumor Syndrome (PHTS) - Genetic Testing Registry: Cowden syndrome - Genetic Testing Registry: Cowden syndrome 1 - Genetic Testing Registry: Cowden syndrome 2 - National Cancer Institute: Genetic Testi... | Cowden syndrome |
Subsets and Splits
No community queries yet
The top public SQL queries from the community will appear here once available.