problem stringlengths 16 191 | explanation stringlengths 6 29k ⌀ | type stringlengths 3 136 ⌀ |
|---|---|---|
What is (are) Usher syndrome ? | Usher syndrome is a condition characterized by hearing loss or deafness and progressive vision loss. The loss of vision is caused by an eye disease called retinitis pigmentosa (RP), which affects the layer of light-sensitive tissue at the back of the eye (the retina). Vision loss occurs as the light-sensing cells of th... | Usher syndrome |
How many people are affected by Usher syndrome ? | Usher syndrome is thought to be responsible for 3 percent to 6 percent of all childhood deafness and about 50 percent of deaf-blindness in adults. Usher syndrome type I is estimated to occur in at least 4 per 100,000 people. It may be more common in certain ethnic populations, such as people with Ashkenazi (central and... | Usher syndrome |
What are the genetic changes related to Usher syndrome ? | Mutations in the ADGRV1, CDH23, CLRN1, MYO7A, PCDH15, USH1C, USH1G, and USH2A genes can cause Usher syndrome. The genes related to Usher syndrome provide instructions for making proteins that play important roles in normal hearing, balance, and vision. They function in the development and maintenance of hair cells, wh... | Usher syndrome |
Is Usher 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. | Usher syndrome |
What are the treatments for Usher syndrome ? | These resources address the diagnosis or management of Usher syndrome: - Gene Review: Gene Review: Usher Syndrome Type I - Gene Review: Gene Review: Usher Syndrome Type II - Genetic Testing Registry: Usher syndrome type 2 - Genetic Testing Registry: Usher syndrome, type 1 - Genetic Testing Registry: Usher syndrome... | Usher syndrome |
What is (are) mal de Meleda ? | Mal de Meleda is a rare skin disorder that begins in early infancy. Affected individuals have a condition known as palmoplantar keratoderma, in which the skin of the palms of the hands and soles of the feet becomes thick, hard, and callused. In mal de Meleda, the thickened skin is also found on the back of the hands an... | mal de Meleda |
How many people are affected by mal de Meleda ? | Mal de Meleda is a rare disorder; its prevalence is unknown. The disorder was first identified on the Croatian island of Mjlet (called Meleda in Italian) and has since been found in populations worldwide. | mal de Meleda |
What are the genetic changes related to mal de Meleda ? | Mal de Meleda is caused by mutations in the SLURP1 gene. This gene provides instructions for making a protein that interacts with other proteins, called receptors, and is likely involved in signaling within cells. Studies show that the SLURP-1 protein can attach (bind) to nicotinic acetylcholine receptors (nAChRs) in t... | mal de Meleda |
Is mal de Meleda 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. | mal de Meleda |
What are the treatments for mal de Meleda ? | These resources address the diagnosis or management of mal de Meleda: - Foundation for Ichthyosis and Related Skin Types: Palmoplantar Keratodermas - Genetic Testing Registry: Acroerythrokeratoderma These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: ... | mal de Meleda |
What is (are) Salih myopathy ? | Salih myopathy is an inherited muscle disease that affects the skeletal muscles, which are used for movement, and the heart (cardiac) muscle. This condition is characterized by skeletal muscle weakness that becomes apparent in early infancy. Affected individuals have delayed development of motor skills, such as sitting... | Salih myopathy |
How many people are affected by Salih myopathy ? | Salih myopathy appears to be a rare disorder, although its prevalence is unknown. It has been reported in a small number of families of Moroccan and Sudanese descent. | Salih myopathy |
What are the genetic changes related to Salih myopathy ? | Salih myopathy is caused by mutations in the TTN gene. This gene provides instructions for making a protein called titin, which plays an important role in skeletal and cardiac muscle function. Within muscle cells, titin is an essential component of structures called sarcomeres. Sarcomeres are the basic units of muscle... | Salih myopathy |
Is Salih myopathy 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. | Salih myopathy |
What are the treatments for Salih myopathy ? | These resources address the diagnosis or management of Salih myopathy: - Gene Review: Gene Review: Salih Myopathy - Genetic Testing Registry: Myopathy, early-onset, with fatal cardiomyopathy These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagno... | Salih myopathy |
What is (are) hereditary antithrombin deficiency ? | Hereditary antithrombin deficiency is a disorder of blood clotting. People with this condition are at higher than average risk for developing abnormal blood clots, particularly a type of clot that occurs in the deep veins of the legs. This type of clot is called a deep vein thrombosis (DVT). Affected individuals also h... | hereditary antithrombin deficiency |
How many people are affected by hereditary antithrombin deficiency ? | Hereditary antithrombin deficiency is estimated to occur in about 1 in 2,000 to 3,000 individuals. Of people who have experienced an abnormal blood clot, about 1 in 20 to 200 have hereditary antithrombin deficiency. | hereditary antithrombin deficiency |
What are the genetic changes related to hereditary antithrombin deficiency ? | Hereditary antithrombin deficiency is caused by mutations in the SERPINC1 gene. This gene provides instructions for producing a protein called antithrombin (previously known as antithrombin III). This protein is found in the bloodstream and is important for controlling blood clotting. Antithrombin blocks the activity o... | hereditary antithrombin deficiency |
Is hereditary antithrombin deficiency inherited ? | Hereditary antithrombin deficiency is typically inherited in an autosomal dominant pattern, which means one altered copy of the SERPINC1 gene in each cell is sufficient to cause the disorder. Inheriting two altered copies of this gene in each cell is usually incompatible with life; however, a few severely affected indi... | hereditary antithrombin deficiency |
What are the treatments for hereditary antithrombin deficiency ? | These resources address the diagnosis or management of hereditary antithrombin deficiency: - Genetic Testing Registry: Antithrombin III deficiency - MedlinePlus Encyclopedia: Blood Clots - MedlinePlus Encyclopedia: Congenital Antithrombin III Deficiency These resources from MedlinePlus offer information about the ... | hereditary antithrombin deficiency |
What is (are) glutathione synthetase deficiency ? | Glutathione synthetase deficiency is a disorder that prevents the production of an important molecule called glutathione. Glutathione helps prevent damage to cells by neutralizing harmful molecules generated during energy production. Glutathione also plays a role in processing medications and cancer-causing compounds (... | glutathione synthetase deficiency |
How many people are affected by glutathione synthetase deficiency ? | Glutathione synthetase deficiency is very rare. This disorder has been described in more than 70 people worldwide. | glutathione synthetase deficiency |
What are the genetic changes related to glutathione synthetase deficiency ? | Mutations in the GSS gene cause glutathione synthetase deficiency. The GSS gene provides instructions for making an enzyme called glutathione synthetase. This enzyme is involved in a process called the gamma-glutamyl cycle, which takes place in most of the body's cells. This cycle is necessary for producing a molecule ... | glutathione synthetase deficiency |
Is glutathione synthetase 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. | glutathione synthetase deficiency |
What are the treatments for glutathione synthetase deficiency ? | These resources address the diagnosis or management of glutathione synthetase deficiency: - Baby's First Test - Genetic Testing Registry: Glutathione synthetase deficiency of erythrocytes, hemolytic anemia due to - Genetic Testing Registry: Gluthathione synthetase deficiency These resources from MedlinePlus offer ... | glutathione synthetase deficiency |
What is (are) palmoplantar keratoderma with deafness ? | Palmoplantar keratoderma with deafness is a disorder characterized by skin abnormalities and hearing loss. Affected individuals develop unusually thick skin on the palms of the hands and soles of the feet (palmoplantar keratoderma) beginning in childhood. Hearing loss ranges from mild to profound. It begins in early ch... | palmoplantar keratoderma with deafness |
How many people are affected by palmoplantar keratoderma with deafness ? | Palmoplantar keratoderma with deafness is a rare disorder; its prevalence is unknown. At least 10 affected families have been identified. | palmoplantar keratoderma with deafness |
What are the genetic changes related to palmoplantar keratoderma with deafness ? | Palmoplantar keratoderma with deafness can be caused by mutations in the GJB2 or MT-TS1 genes. The GJB2 gene provides instructions for making a protein called gap junction beta 2, more commonly known as connexin 26. Connexin 26 is a member of the connexin protein family. Connexin proteins form channels called gap junc... | palmoplantar keratoderma with deafness |
Is palmoplantar keratoderma with deafness inherited ? | Palmoplantar keratoderma with deafness can have different inheritance patterns. When this disorder is caused by GJB2 gene mutations, 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 most cases, an affected person inherits the... | palmoplantar keratoderma with deafness |
What are the treatments for palmoplantar keratoderma with deafness ? | These resources address the diagnosis or management of palmoplantar keratoderma with deafness: - Foundation for Ichthyosis and Related Skin Types: Palmoplantar Keratodermas - Genetic Testing Registry: Keratoderma palmoplantar deafness These resources from MedlinePlus offer information about the diagnosis and manage... | palmoplantar keratoderma with deafness |
What is (are) Crohn disease ? | Crohn disease is a complex, chronic disorder that primarily affects the digestive system. This condition typically involves abnormal inflammation of the intestinal walls, particularly in the lower part of the small intestine (the ileum) and portions of the large intestine (the colon). Inflammation can occur in any part... | Crohn disease |
How many people are affected by Crohn disease ? | Crohn disease is most common in western Europe and North America, where it affects 100 to 150 in 100,000 people. About one million Americans are currently affected by this disorder. Crohn disease occurs more often in whites and people of eastern and central European (Ashkenazi) Jewish descent than among people of other... | Crohn disease |
What are the genetic changes related to Crohn disease ? | Crohn disease is related to chromosomes 5 and 10. Variations of the ATG16L1, IRGM, and NOD2 genes increase the risk of developing Crohn disease. The IL23R gene is associated with Crohn disease. A variety of genetic and environmental factors likely play a role in causing Crohn disease. Although researchers are studyi... | Crohn disease |
Is Crohn disease inherited ? | The inheritance pattern of Crohn disease is unclear because many genetic and environmental factors are likely to be involved. This condition tends to cluster in families, however, and having an affected family member is a significant risk factor for the disease. | Crohn disease |
What are the treatments for Crohn disease ? | These resources address the diagnosis or management of Crohn disease: - Genetic Testing Registry: Inflammatory bowel disease 1 - MedlinePlus Encyclopedia: Crohn's disease These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug T... | Crohn disease |
What is (are) frontometaphyseal dysplasia ? | Frontometaphyseal dysplasia is a disorder involving abnormalities in skeletal development and other health problems. It is a member of a group of related conditions called otopalatodigital spectrum disorders, which also includes otopalatodigital syndrome type 1, otopalatodigital syndrome type 2, and Melnick-Needles syn... | frontometaphyseal dysplasia |
How many people are affected by frontometaphyseal dysplasia ? | Frontometaphyseal dysplasia is a rare disorder; only a few dozen cases have been reported worldwide. | frontometaphyseal dysplasia |
What are the genetic changes related to frontometaphyseal dysplasia ? | Mutations in the FLNA gene cause frontometaphyseal dysplasia. The FLNA gene provides instructions for producing the protein filamin A, which helps build the network of protein filaments (cytoskeleton) that gives structure to cells and allows them to change shape and move. Filamin A binds to another protein called acti... | frontometaphyseal dysplasia |
Is frontometaphyseal dysplasia inherited ? | This condition is inherited in an X-linked dominant pattern. The gene associated with this condition is located on the X chromosome, which is one of the two sex chromosomes. In females (who have two X chromosomes), a mutation in one of the two copies of the gene in each cell is sufficient to cause the disorder. In male... | frontometaphyseal dysplasia |
What are the treatments for frontometaphyseal dysplasia ? | 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... | frontometaphyseal dysplasia |
What is (are) recombinant 8 syndrome ? | Recombinant 8 syndrome is a condition that involves heart and urinary tract abnormalities, moderate to severe intellectual disability, and a distinctive facial appearance. The characteristic facial features include a wide, square face; a thin upper lip; a downturned mouth; a small chin (micrognathia); wide-set eyes (hy... | recombinant 8 syndrome |
How many people are affected by recombinant 8 syndrome ? | Recombinant 8 syndrome is a rare condition; its exact incidence is unknown. Most people with this condition are descended from a Hispanic population originating in the San Luis Valley area of southern Colorado and northern New Mexico. Recombinant 8 syndrome is also called San Luis Valley syndrome. Only a few cases outs... | recombinant 8 syndrome |
What are the genetic changes related to recombinant 8 syndrome ? | Recombinant 8 syndrome is caused by a rearrangement of chromosome 8 that results in a deletion of a piece of the short (p) arm and a duplication of a piece of the long (q) arm. The deletion and duplication result in the recombinant 8 chromosome. The signs and symptoms of recombinant 8 syndrome are related to the loss a... | recombinant 8 syndrome |
Is recombinant 8 syndrome inherited ? | This condition is inherited in an autosomal dominant pattern, which means one copy of the recombinant chromosome 8 in each cell is sufficient to cause the disorder. Most people with recombinant 8 syndrome have at least one parent with a change in chromosome 8 called an inversion. An inversion involves the breakage of ... | recombinant 8 syndrome |
What are the treatments for recombinant 8 syndrome ? | These resources address the diagnosis or management of recombinant 8 syndrome: - Genetic Testing Registry: Recombinant chromosome 8 syndrome These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilit... | recombinant 8 syndrome |
What is (are) biotin-thiamine-responsive basal ganglia disease ? | Biotin-thiamine-responsive basal ganglia disease is a disorder that affects the nervous system, including a group of structures in the brain called the basal ganglia, which help control movement. As its name suggests, the condition may improve if the vitamins biotin and thiamine are given as treatment. Without early an... | biotin-thiamine-responsive basal ganglia disease |
How many people are affected by biotin-thiamine-responsive basal ganglia disease ? | Biotin-thiamine-responsive basal ganglia disease is a rare disorder; its prevalence is unknown. Approximately 48 cases have been reported in the medical literature; most of these are individuals from Arab populations. | biotin-thiamine-responsive basal ganglia disease |
What are the genetic changes related to biotin-thiamine-responsive basal ganglia disease ? | Biotin-thiamine-responsive basal ganglia disease is caused by mutations in the SLC19A3 gene. This gene provides instructions for making a protein called a thiamine transporter, which moves thiamine into cells. Thiamine, also known as vitamin B1, is obtained from the diet and is necessary for proper functioning of the n... | biotin-thiamine-responsive basal ganglia disease |
Is biotin-thiamine-responsive basal ganglia disease 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. | biotin-thiamine-responsive basal ganglia disease |
What are the treatments for biotin-thiamine-responsive basal ganglia disease ? | These resources address the diagnosis or management of biotin-thiamine-responsive basal ganglia disease: - Gene Review: Gene Review: Biotin-Thiamine-Responsive Basal Ganglia Disease These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests... | biotin-thiamine-responsive basal ganglia disease |
What is (are) congenital myasthenic syndrome ? | Congenital myasthenic syndrome is a group of conditions characterized by muscle weakness (myasthenia) that worsens with physical exertion. The muscle weakness typically begins in early childhood but can also appear in adolescence or adulthood. Facial muscles, including muscles that control the eyelids, muscles that mov... | congenital myasthenic syndrome |
How many people are affected by congenital myasthenic syndrome ? | The prevalence of congenital myasthenic syndrome is unknown. At least 600 families with affected individuals have been described in the scientific literature. | congenital myasthenic syndrome |
What are the genetic changes related to congenital myasthenic syndrome ? | Mutations in many genes can cause congenital myasthenic syndrome. Mutations in the CHRNE gene are responsible for more than half of all cases. A large number of cases are also caused by mutations in the RAPSN, CHAT, COLQ, and DOK7 genes. All of these genes provide instructions for producing proteins that are involved i... | congenital myasthenic syndrome |
Is congenital myasthenic syndrome inherited ? | This condition is most commonly 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. R... | congenital myasthenic syndrome |
What are the treatments for congenital myasthenic syndrome ? | These resources address the diagnosis or management of congenital myasthenic syndrome: - Gene Review: Gene Review: Congenital Myasthenic Syndromes - Genetic Testing Registry: CHRNA1-Related Congenital Myasthenic Syndrome - Genetic Testing Registry: Congenital myasthenic syndrome - Genetic Testing Registry: Congenit... | congenital myasthenic syndrome |
What is (are) tetrahydrobiopterin deficiency ? | Tetrahydrobiopterin deficiency is a rare disorder characterized by a shortage (deficiency) of a molecule called tetrahydrobiopterin or BH4. This condition alters the levels of several substances in the body, including phenylalanine. Phenylalanine is a building block of proteins (an amino acid) that is obtained through ... | tetrahydrobiopterin deficiency |
How many people are affected by tetrahydrobiopterin deficiency ? | 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... | tetrahydrobiopterin deficiency |
What are the genetic changes related to tetrahydrobiopterin deficiency ? | Tetrahydrobiopterin deficiency can be caused by mutations in one of several genes, including GCH1, PCBD1, PTS, and QDPR. These genes provide instructions for making enzymes that help produce and recycle tetrahydrobiopterin in the body. Tetrahydrobiopterin normally helps process several amino acids, including phenylalan... | tetrahydrobiopterin deficiency |
Is tetrahydrobiopterin 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. | tetrahydrobiopterin deficiency |
What are the treatments for tetrahydrobiopterin deficiency ? | These resources address the diagnosis or management of tetrahydrobiopterin deficiency: - Baby's First Test: Biopterin Defect in Cofactor Biosynthesis - Baby's First Test: Biopterin Defect in Cofactor Regeneration - Genetic Testing Registry: 6-pyruvoyl-tetrahydropterin synthase deficiency - Genetic Testing Registry:... | tetrahydrobiopterin deficiency |
What is (are) glycogen storage disease type V ? | Glycogen storage disease type V (also known as GSDV or McArdle disease) is an inherited disorder caused by an inability to break down a complex sugar called glycogen in muscle cells. A lack of glycogen breakdown interferes with the function of muscle cells. People with GSDV typically experience fatigue, muscle pain, a... | glycogen storage disease type V |
How many people are affected by glycogen storage disease type V ? | GSDV is a rare disorder; however, its prevalence is unknown. In the Dallas-Fort Worth area of Texas, where the prevalence of GSDV has been studied, the condition is estimated to affect 1 in 100,000 individuals. | glycogen storage disease type V |
What are the genetic changes related to glycogen storage disease type V ? | Mutations in the PYGM gene cause GSDV. The PYGM gene provides instructions for making an enzyme called myophosphorylase. This enzyme is found only in muscle cells, where it breaks down glycogen into a simpler sugar called glucose-1-phosphate. Additional steps convert glucose-1-phosphate into glucose, a simple sugar tha... | glycogen storage disease type V |
Is glycogen storage disease type V 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. | glycogen storage disease type V |
What are the treatments for glycogen storage disease type V ? | These resources address the diagnosis or management of glycogen storage disease type V: - Gene Review: Gene Review: Glycogen Storage Disease Type V - Genetic Testing Registry: Glycogen storage disease, type V - MedlinePlus Encyclopedia: McArdle syndrome These resources from MedlinePlus offer information about the ... | glycogen storage disease type V |
What is (are) dyskeratosis congenita ? | Dyskeratosis congenita is a disorder that can affect many parts of the body. There are three features that are characteristic of this disorder: fingernails and toenails that grow poorly or are abnormally shaped (nail dystrophy); changes in skin coloring (pigmentation), especially on the neck and chest, in a pattern oft... | dyskeratosis congenita |
How many people are affected by dyskeratosis congenita ? | The exact prevalence of dyskeratosis congenita is unknown. It is estimated to occur in approximately 1 in 1 million people. | dyskeratosis congenita |
What are the genetic changes related to dyskeratosis congenita ? | In about half of people with dyskeratosis congenita, the disorder is caused by mutations in the TERT, TERC, DKC1, or TINF2 gene. These genes provide instructions for making proteins that help maintain structures known as telomeres, which are found at the ends of chromosomes. In a small number of individuals with dysker... | dyskeratosis congenita |
Is dyskeratosis congenita inherited ? | Dyskeratosis congenita can have different inheritance patterns. When dyskeratosis congenita is caused by DKC1 gene mutations, it is inherited in an X-linked recessive pattern. The DKC1 gene is located on the X chromosome, which is one of the two sex chromosomes. In males (who have only one X chromosome), one altered c... | dyskeratosis congenita |
What are the treatments for dyskeratosis congenita ? | These resources address the diagnosis or management of dyskeratosis congenita: - Gene Review: Gene Review: Dyskeratosis Congenita - Genetic Testing Registry: Dyskeratosis congenita - Genetic Testing Registry: Dyskeratosis congenita X-linked - Genetic Testing Registry: Dyskeratosis congenita autosomal dominant - Ge... | dyskeratosis congenita |
What is (are) familial encephalopathy with neuroserpin inclusion bodies ? | Familial encephalopathy with neuroserpin inclusion bodies (FENIB) is a disorder that causes progressive dysfunction of the brain (encephalopathy). It is characterized by a loss of intellectual functioning (dementia) and seizures. At first, affected individuals may have difficulty sustaining attention and concentrating.... | familial encephalopathy with neuroserpin inclusion bodies |
How many people are affected by familial encephalopathy with neuroserpin inclusion bodies ? | This condition appears to be rare; only a few affected individuals have been reported worldwide. | familial encephalopathy with neuroserpin inclusion bodies |
What are the genetic changes related to familial encephalopathy with neuroserpin inclusion bodies ? | FENIB results from mutations in the SERPINI1 gene. This gene provides instructions for making a protein called neuroserpin, which is found in nerve cells (neurons). Neuroserpin plays a role in the development and function of the nervous system. This protein helps control the growth of neurons and their connections with... | familial encephalopathy with neuroserpin inclusion bodies |
Is familial encephalopathy with neuroserpin inclusion bodies inherited ? | FENIB is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In many cases, an affected person has a parent with the condition. | familial encephalopathy with neuroserpin inclusion bodies |
What are the treatments for familial encephalopathy with neuroserpin inclusion bodies ? | These resources address the diagnosis or management of FENIB: - Genetic Testing Registry: Familial encephalopathy with neuroserpin inclusion bodies - MedlinePlus Encyclopedia: Dementia - MedlinePlus Encyclopedia: Seizures These resources from MedlinePlus offer information about the diagnosis and management of vari... | familial encephalopathy with neuroserpin inclusion bodies |
What is (are) craniofacial-deafness-hand syndrome ? | Craniofacial-deafness-hand syndrome is characterized by distinctive facial features, profound hearing loss, and hand abnormalities. The distinctive facial features of people with craniofacial-deafness-hand syndrome result from a variety of developmental abnormalities involving the skull (cranium) and face. Affected in... | craniofacial-deafness-hand syndrome |
How many people are affected by craniofacial-deafness-hand syndrome ? | Craniofacial-deafness-hand syndrome is an extremely rare condition. Only a few cases have been reported in the scientific literature. | craniofacial-deafness-hand syndrome |
What are the genetic changes related to craniofacial-deafness-hand syndrome ? | Craniofacial-deafness-hand syndrome is caused by mutations in the PAX3 gene. The PAX3 gene plays a critical role in the formation of tissues and organs during embryonic development. To perform this function, the gene provides instructions for making a protein that attaches (binds) to specific areas of DNA to help contr... | craniofacial-deafness-hand syndrome |
Is craniofacial-deafness-hand 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. | craniofacial-deafness-hand syndrome |
What are the treatments for craniofacial-deafness-hand syndrome ? | These resources address the diagnosis or management of craniofacial-deafness-hand syndrome: - Genetic Testing Registry: Craniofacial deafness hand syndrome - Johns Hopkins Children's Center: Hearing Loss These resources from MedlinePlus offer information about the diagnosis and management of various health conditio... | craniofacial-deafness-hand syndrome |
What is (are) Apert syndrome ? | Apert syndrome is a genetic disorder characterized by the premature fusion of certain skull bones (craniosynostosis). This early fusion prevents the skull from growing normally and affects the shape of the head and face. In addition, a varied number of fingers and toes are fused together (syndactyly). Many of the char... | Apert syndrome |
How many people are affected by Apert syndrome ? | Apert syndrome affects an estimated 1 in 65,000 to 88,000 newborns. | Apert syndrome |
What are the genetic changes related to Apert syndrome ? | Mutations in the FGFR2 gene cause Apert syndrome. This gene produces a protein called fibroblast growth factor receptor 2. Among its multiple functions, this protein signals immature cells to become bone cells during embryonic development. A mutation in a specific part of the FGFR2 gene alters the protein and causes pr... | Apert syndrome |
Is Apert syndrome inherited ? | Apert 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. Almost all cases of Apert syndrome result from new mutations in the gene, and occur in people with no history of the disorder in their family. Individuals with Apert s... | Apert syndrome |
What are the treatments for Apert syndrome ? | These resources address the diagnosis or management of Apert syndrome: - Gene Review: Gene Review: FGFR-Related Craniosynostosis Syndromes - Genetic Testing Registry: Acrocephalosyndactyly type I - MedlinePlus Encyclopedia: Apert syndrome - MedlinePlus Encyclopedia: Webbing of the fingers or toes These resources ... | Apert syndrome |
What is (are) adult polyglucosan body disease ? | Adult polyglucosan body disease is a condition that affects the nervous system. People with this condition have problems walking due to reduced sensation in their legs (peripheral neuropathy) and progressive muscle weakness and stiffness (spasticity). Damage to the nerves that control bladder function, a condition call... | adult polyglucosan body disease |
How many people are affected by adult polyglucosan body disease ? | Adult polyglucosan body disease is a rare condition; although its exact prevalence is unknown, at least 50 affected individuals have been described in the medical literature. | adult polyglucosan body disease |
What are the genetic changes related to adult polyglucosan body disease ? | Mutations in the GBE1 gene cause adult polyglucosan body disease. The GBE1 gene provides instructions for making the glycogen branching enzyme. This enzyme is involved in the production of a complex sugar called glycogen, which is a major source of stored energy in the body. Most GBE1 gene mutations result in a shortag... | adult polyglucosan body disease |
Is adult polyglucosan body disease 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. | adult polyglucosan body disease |
What are the treatments for adult polyglucosan body disease ? | These resources address the diagnosis or management of adult polyglucosan body disease: - Gene Review: Gene Review: Adult Polyglucosan Body Disease - Genetic Testing Registry: Polyglucosan body disease, adult - MedlinePlus Encyclopedia: Neurogenic Bladder - MedlinePlus Encyclopedia: Spasticity These resources fro... | adult polyglucosan body disease |
What is (are) X-linked chondrodysplasia punctata 2 ? | X-linked chondrodysplasia punctata 2 is a disorder characterized by bone, skin, and eye abnormalities. It occurs almost exclusively in females. Although the signs and symptoms of this condition vary widely, almost all affected individuals have chondrodysplasia punctata, an abnormality that appears on x-rays as spots (... | X-linked chondrodysplasia punctata 2 |
How many people are affected by X-linked chondrodysplasia punctata 2 ? | X-linked chondrodysplasia punctata 2 has been estimated to affect fewer than 1 in 400,000 newborns. However, the disorder may actually be more common than this estimate because it is likely underdiagnosed, particularly in females with mild signs and symptoms. More than 95 percent of cases of X-linked chondrodysplasia ... | X-linked chondrodysplasia punctata 2 |
What are the genetic changes related to X-linked chondrodysplasia punctata 2 ? | X-linked chondrodysplasia punctata 2 is caused by mutations in the EBP gene. This gene provides instructions for making an enzyme called 3-hydroxysteroid-8,7-isomerase, which is responsible for one of the final steps in the production of cholesterol. Cholesterol is a waxy, fat-like substance that is produced in the bod... | X-linked chondrodysplasia punctata 2 |
Is X-linked chondrodysplasia punctata 2 inherited ? | This condition is inherited in an X-linked dominant pattern. The gene associated with this condition is located on the X chromosome, which is one of the two sex chromosomes. In females (who have two X chromosomes), a mutation in one of the two copies of the EBP gene in each cell is sufficient to cause the disorder. Som... | X-linked chondrodysplasia punctata 2 |
What are the treatments for X-linked chondrodysplasia punctata 2 ? | These resources address the diagnosis or management of X-linked chondrodysplasia punctata 2: - Gene Review: Gene Review: Chondrodysplasia Punctata 2, X-Linked - Genetic Testing Registry: Chondrodysplasia punctata 2 X-linked dominant These resources from MedlinePlus offer information about the diagnosis and manageme... | X-linked chondrodysplasia punctata 2 |
What is (are) fragile X-associated primary ovarian insufficiency ? | Fragile X-associated primary ovarian insufficiency (FXPOI) is a condition that affects women and is characterized by reduced function of the ovaries. The ovaries are the female reproductive organs in which egg cells are produced. As a form of primary ovarian insufficiency, FXPOI can cause irregular menstrual cycles, ea... | fragile X-associated primary ovarian insufficiency |
How many people are affected by fragile X-associated primary ovarian insufficiency ? | An estimated 1 in 200 females has the genetic change that leads to FXPOI, although only about a quarter of them develop the condition. FXPOI accounts for about 4 to 6 percent of all cases of primary ovarian insufficiency in women. | fragile X-associated primary ovarian insufficiency |
What are the genetic changes related to fragile X-associated primary ovarian insufficiency ? | Mutations in the FMR1 gene increase a woman's risk of developing FXPOI. The FMR1 gene provides instructions for making a protein called FMRP, which helps regulate the production of other proteins. This protein plays a role in the functioning of nerve cells. It is also important for normal ovarian function, although the... | fragile X-associated primary ovarian insufficiency |
Is fragile X-associated primary ovarian insufficiency inherited ? | An increased risk of developing FXPOI is inherited in an X-linked dominant pattern. The FMR1 gene is located on the X chromosome, which is one of the two sex chromosomes. (The Y chromosome is the other sex chromosome.) The inheritance is dominant because one copy of the altered gene in each cell is sufficient to elevat... | fragile X-associated primary ovarian insufficiency |
What are the treatments for fragile X-associated primary ovarian insufficiency ? | 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... | fragile X-associated primary ovarian insufficiency |
Subsets and Splits
No community queries yet
The top public SQL queries from the community will appear here once available.