problem stringlengths 16 191 | explanation stringlengths 6 29k ⌀ | type stringlengths 3 136 ⌀ |
|---|---|---|
What is (are) Alpers-Huttenlocher syndrome ? | Alpers-Huttenlocher syndrome is one of the most severe of a group of conditions called the POLG-related disorders. The conditions in this group feature a range of similar signs and symptoms involving muscle-, nerve-, and brain-related functions. Alpers-Huttenlocher syndrome typically becomes apparent in children betwee... | Alpers-Huttenlocher syndrome |
How many people are affected by Alpers-Huttenlocher syndrome ? | The prevalence of Alpers-Huttenlocher syndrome is approximately 1 in 100,000 individuals. | Alpers-Huttenlocher syndrome |
What are the genetic changes related to Alpers-Huttenlocher syndrome ? | Alpers-Huttenlocher syndrome is caused by mutations in the POLG gene. This gene provides instructions for making one part, the alpha subunit, of a protein called polymerase gamma (pol ). Pol functions in mitochondria, which are structures within cells that use oxygen to convert the energy from food into a form cells c... | Alpers-Huttenlocher syndrome |
Is Alpers-Huttenlocher 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. | Alpers-Huttenlocher syndrome |
What are the treatments for Alpers-Huttenlocher syndrome ? | These resources address the diagnosis or management of Alpers-Huttenlocher syndrome: - Gene Review: Gene Review: POLG-Related Disorders - Genetic Testing Registry: Progressive sclerosing poliodystrophy - United Mitochondrial Disease Foundation: Diagnosis of Mitochondrial Disease These resources from MedlinePlus of... | Alpers-Huttenlocher syndrome |
What is (are) juvenile Batten disease ? | Juvenile Batten disease is an inherited disorder that primarily affects the nervous system. After a few years of normal development, children with this condition develop progressive vision loss, intellectual and motor disability, speech difficulties, and seizures. Vision impairment is often the first noticeable sign o... | juvenile Batten disease |
How many people are affected by juvenile Batten disease ? | Juvenile Batten disease is the most common type of NCL, but its exact prevalence is unknown. Collectively, all forms of NCL affect an estimated 1 in 100,000 individuals worldwide. NCLs are more common in Finland, where approximately 1 in 12,500 individuals are affected. | juvenile Batten disease |
What are the genetic changes related to juvenile Batten disease ? | Most cases of juvenile Batten disease are caused by mutations in the CLN3 gene. This gene provides instructions for making a protein whose function is unknown. It is unclear how mutations in the CLN3 gene lead to the characteristic features of juvenile Batten disease. These mutations somehow disrupt the function of ce... | juvenile Batten disease |
Is juvenile Batten 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. | juvenile Batten disease |
What are the treatments for juvenile Batten disease ? | These resources address the diagnosis or management of juvenile Batten disease: - Batten Disease Diagnostic and Clinical Research Center at the University of Rochester Medical Center - Batten Disease Support and Research Association: Centers of Excellence - Gene Review: Gene Review: Neuronal Ceroid-Lipofuscinoses -... | juvenile Batten disease |
What is (are) spinal muscular atrophy with progressive myoclonic epilepsy ? | Spinal muscular atrophy with progressive myoclonic epilepsy (SMA-PME) is a neurological condition that causes muscle weakness and wasting (atrophy) and a combination of seizures and uncontrollable muscle jerks (myoclonic epilepsy). In individuals with SMA-PME, spinal muscular atrophy results from a loss of specialized... | spinal muscular atrophy with progressive myoclonic epilepsy |
How many people are affected by spinal muscular atrophy with progressive myoclonic epilepsy ? | SMA-PME is a rare disorder; approximately a dozen affected families have been described in the scientific literature. | spinal muscular atrophy with progressive myoclonic epilepsy |
What are the genetic changes related to spinal muscular atrophy with progressive myoclonic epilepsy ? | SMA-PME is caused by mutations in the ASAH1 gene. This gene provides instructions for making an enzyme called acid ceramidase. This enzyme is found in lysosomes, which are cell compartments that digest and recycle materials. Within lysosomes, acid ceramidase breaks down fats called ceramides into a fat called sphingosi... | spinal muscular atrophy with progressive myoclonic epilepsy |
Is spinal muscular atrophy with progressive myoclonic epilepsy 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. | spinal muscular atrophy with progressive myoclonic epilepsy |
What are the treatments for spinal muscular atrophy with progressive myoclonic epilepsy ? | These resources address the diagnosis or management of spinal muscular atrophy with progressive myoclonic epilepsy: - Genetic Testing Registry: Jankovic Rivera syndrome - Muscular Dystrophy Association: Spinal Muscular Atrophy Types These resources from MedlinePlus offer information about the diagnosis and manageme... | spinal muscular atrophy with progressive myoclonic epilepsy |
What is (are) epidermolysis bullosa simplex ? | Epidermolysis bullosa simplex is one of a group of genetic conditions called epidermolysis bullosa that cause the skin to be very fragile and to blister easily. Blisters and areas of skin loss (erosions) occur in response to minor injury or friction, such as rubbing or scratching. Epidermolysis bullosa simplex is one o... | epidermolysis bullosa simplex |
How many people are affected by epidermolysis bullosa simplex ? | The exact prevalence of epidermolysis bullosa simplex is unknown, but this condition is estimated to affect 1 in 30,000 to 50,000 people. The localized type is the most common form of the condition. | epidermolysis bullosa simplex |
What are the genetic changes related to epidermolysis bullosa simplex ? | The four major types of epidermolysis bullosa simplex can result from mutations in either the KRT5 or KRT14 gene. These genes provide instructions for making proteins called keratin 5 and keratin 14. These tough, fibrous proteins work together to provide strength and resiliency to the outer layer of the skin (the epide... | epidermolysis bullosa simplex |
Is epidermolysis bullosa simplex inherited ? | Epidermolysis bullosa simplex is usually inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. Some affected people inherit the mutation from one affected parent. Other cases result from new mutations in the gene and occur in people with n... | epidermolysis bullosa simplex |
What are the treatments for epidermolysis bullosa simplex ? | These resources address the diagnosis or management of epidermolysis bullosa simplex: - Dystrophic Epidermolysis Bullosa Research Association (DebRA) of America: Wound Care - Epidermolysis Bullosa Center, Cincinnati Children's Hospital Medical Center - Gene Review: Gene Review: Epidermolysis Bullosa Simplex - Genet... | epidermolysis bullosa simplex |
What is (are) ring chromosome 14 syndrome ? | Ring chromosome 14 syndrome is a condition characterized by seizures and intellectual disability. Recurrent seizures (epilepsy) develop in infancy or early childhood. In many cases, the seizures are resistant to treatment with anti-epileptic drugs. Most people with ring chromosome 14 syndrome also have some degree of i... | ring chromosome 14 syndrome |
How many people are affected by ring chromosome 14 syndrome ? | Ring chromosome 14 syndrome appears to be a rare condition, although its prevalence is unknown. More than 50 affected individuals have been reported in the medical literature. | ring chromosome 14 syndrome |
What are the genetic changes related to ring chromosome 14 syndrome ? | Ring chromosome 14 syndrome is caused by a chromosomal abnormality known as a ring chromosome 14, sometimes written as r(14). A ring chromosome is a circular structure that occurs when a chromosome breaks in two places and its broken ends fuse together. People with ring chromosome 14 syndrome have one copy of this abno... | ring chromosome 14 syndrome |
Is ring chromosome 14 syndrome inherited ? | Ring chromosome 14 syndrome is almost never inherited. A ring chromosome typically occurs as a random event during the formation of reproductive cells (eggs or sperm) or in early embryonic development. In some cases, the ring chromosome is present in only some of a person's cells. This situation is known as mosaicism. ... | ring chromosome 14 syndrome |
What are the treatments for ring chromosome 14 syndrome ? | These resources address the diagnosis or management of ring chromosome 14 syndrome: - Genetic Testing Registry: Ring chromosome 14 - MedlinePlus Encyclopedia: Chromosome These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Th... | ring chromosome 14 syndrome |
What is (are) spondylocarpotarsal synostosis syndrome ? | Spondylocarpotarsal synostosis syndrome is a disorder that affects the development of bones throughout the body. Newborns with this disorder are of approximately normal length, but impaired growth of the trunk results in short stature over time. The bones of the spine (vertebrae) are misshapen and abnormally joined tog... | spondylocarpotarsal synostosis syndrome |
How many people are affected by spondylocarpotarsal synostosis syndrome ? | Spondylocarpotarsal synostosis syndrome is a rare disorder; its prevalence is unknown. At least 25 affected individuals have been identified. | spondylocarpotarsal synostosis syndrome |
What are the genetic changes related to spondylocarpotarsal synostosis syndrome ? | Mutations in the FLNB gene cause spondylocarpotarsal synostosis 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)... | spondylocarpotarsal synostosis syndrome |
Is spondylocarpotarsal synostosis syndrome inherited ? | Spondylocarpotarsal synostosis syndrome caused by FLNB gene mutations 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 sho... | spondylocarpotarsal synostosis syndrome |
What are the treatments for spondylocarpotarsal synostosis syndrome ? | These resources address the diagnosis or management of spondylocarpotarsal synostosis syndrome: - Gene Review: Gene Review: FLNB-Related Disorders - Genetic Testing Registry: Spondylocarpotarsal synostosis syndrome These resources from MedlinePlus offer information about the diagnosis and management of various heal... | spondylocarpotarsal synostosis syndrome |
What is (are) Axenfeld-Rieger syndrome ? | Axenfeld-Rieger syndrome is primarily an eye disorder, although it can also affect other parts of the body. This condition is characterized by abnormalities of the front part of the eye, an area known as the anterior segment. For example, the colored part of the eye (the iris), may be thin or poorly developed. The iris... | Axenfeld-Rieger syndrome |
How many people are affected by Axenfeld-Rieger syndrome ? | Axenfeld-Rieger syndrome has an estimated prevalence of 1 in 200,000 people. | Axenfeld-Rieger syndrome |
What are the genetic changes related to Axenfeld-Rieger syndrome ? | Axenfeld-Rieger syndrome results from mutations in at least two known genes, PITX2 and FOXC1. PITX2 gene mutations cause type 1, and FOXC1 gene mutations cause type 3. The gene associated with type 2 is likely located on chromosome 13, but it has not been identified. The proteins produced from the PITX2 and FOXC1 genes... | Axenfeld-Rieger syndrome |
Is Axenfeld-Rieger 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. | Axenfeld-Rieger syndrome |
What are the treatments for Axenfeld-Rieger syndrome ? | These resources address the diagnosis or management of Axenfeld-Rieger syndrome: - Genetic Testing Registry: Axenfeld-Rieger syndrome type 1 - Genetic Testing Registry: Axenfeld-Rieger syndrome type 2 - Genetic Testing Registry: Axenfeld-Rieger syndrome type 3 - Genetic Testing Registry: Rieger syndrome - Glaucoma... | Axenfeld-Rieger syndrome |
What is (are) cystinosis ? | Cystinosis is a condition characterized by accumulation of the amino acid cystine (a building block of proteins) within cells. Excess cystine damages cells and often forms crystals that can build up and cause problems in many organs and tissues. The kidneys and eyes are especially vulnerable to damage; the muscles, thy... | cystinosis |
How many people are affected by cystinosis ? | Cystinosis affects approximately 1 in 100,000 to 200,000 newborns worldwide. The incidence is higher in the province of Brittany, France, where the disorder affects 1 in 26,000 individuals. | cystinosis |
What are the genetic changes related to cystinosis ? | All three types of cystinosis are caused by mutations in the CTNS gene. Mutations in this gene lead to a deficiency of a transporter protein called cystinosin. Within cells, this protein normally moves cystine out of the lysosomes, which are compartments in the cell that digest and recycle materials. When cystinosin is... | cystinosis |
Is cystinosis 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. | cystinosis |
What are the treatments for cystinosis ? | These resources address the diagnosis or management of cystinosis: - Cystinosis Research Foundation: Treatment - Cystinosis Research Network: Symptoms and Treatment - Gene Review: Gene Review: Cystinosis - Genetic Testing Registry: Cystinosis - Genetic Testing Registry: Cystinosis, ocular nonnephropathic - Geneti... | cystinosis |
What is (are) inclusion body myopathy with early-onset Paget disease and frontotemporal dementia ? | Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia (IBMPFD) is a condition that can affect the muscles, bones, and brain. The first symptom of IBMPFD is often muscle weakness (myopathy), which typically appears in mid-adulthood. Weakness first occurs in muscles of the hips and shoulders... | inclusion body myopathy with early-onset Paget disease and frontotemporal dementia |
How many people are affected by inclusion body myopathy with early-onset Paget disease and frontotemporal dementia ? | Although the prevalence of IBMPFD is unknown, this condition is rare. It has been identified in about 26 families. | inclusion body myopathy with early-onset Paget disease and frontotemporal dementia |
What are the genetic changes related to inclusion body myopathy with early-onset Paget disease and frontotemporal dementia ? | Mutations in the VCP gene cause IBMPFD. The VCP gene provides instructions for making an enzyme called valosin-containing protein, which has a wide variety of functions within cells. One of its most critical jobs is to help break down (degrade) proteins that are abnormal or no longer needed. Mutations in the VCP gene ... | inclusion body myopathy with early-onset Paget disease and frontotemporal dementia |
Is inclusion body myopathy with early-onset Paget disease and frontotemporal dementia 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 histor... | inclusion body myopathy with early-onset Paget disease and frontotemporal dementia |
What are the treatments for inclusion body myopathy with early-onset Paget disease and frontotemporal dementia ? | These resources address the diagnosis or management of IBMPFD: - Gene Review: Gene Review: Inclusion Body Myopathy with Paget Disease of Bone and/or Frontotemporal Dementia - Genetic Testing Registry: Inclusion body myopathy with early-onset paget disease and frontotemporal dementia These resources from MedlinePlus... | inclusion body myopathy with early-onset Paget disease and frontotemporal dementia |
What is (are) tuberous sclerosis complex ? | Tuberous sclerosis complex is a genetic disorder characterized by the growth of numerous noncancerous (benign) tumors in many parts of the body. These tumors can occur in the skin, brain, kidneys, and other organs, in some cases leading to significant health problems. Tuberous sclerosis complex also causes developmenta... | tuberous sclerosis complex |
How many people are affected by tuberous sclerosis complex ? | Tuberous sclerosis complex affects about 1 in 6,000 people. | tuberous sclerosis complex |
What are the genetic changes related to tuberous sclerosis complex ? | Mutations in the TSC1 or TSC2 gene can cause tuberous sclerosis complex. The TSC1 and TSC2 genes provide instructions for making the proteins hamartin and tuberin, respectively. Within cells, these two proteins likely work together to help regulate cell growth and size. The proteins act as tumor suppressors, which norm... | tuberous sclerosis complex |
Is tuberous sclerosis complex inherited ? | Tuberous sclerosis complex has an autosomal dominant pattern of inheritance, which means one copy of the altered gene in each cell is sufficient to increase the risk of developing tumors and other problems with development. In about one-third of cases, an affected person inherits an altered TSC1 or TSC2 gene from a par... | tuberous sclerosis complex |
What are the treatments for tuberous sclerosis complex ? | These resources address the diagnosis or management of tuberous sclerosis complex: - Gene Review: Gene Review: Tuberous Sclerosis Complex - Genetic Testing Registry: Tuberous sclerosis syndrome - MedlinePlus Encyclopedia: Tuberous Sclerosis - Tuberous Sclerosis Alliance: TSC Clinics These resources from MedlinePl... | tuberous sclerosis complex |
What is (are) nonsyndromic aplasia cutis congenita ? | Nonsyndromic aplasia cutis congenita is a condition in which babies are born with localized areas of missing skin (lesions). These areas resemble ulcers or open wounds, although they are sometimes already healed at birth. Lesions most commonly occur on the top of the head (skull vertex), although they can be found on t... | nonsyndromic aplasia cutis congenita |
How many people are affected by nonsyndromic aplasia cutis congenita ? | Aplasia cutis congenita affects approximately 1 in 10,000 newborns. The incidence of the nonsyndromic form is unknown. | nonsyndromic aplasia cutis congenita |
What are the genetic changes related to nonsyndromic aplasia cutis congenita ? | Nonsyndromic aplasia cutis congenita can have different causes, and often the cause is unknown. Because the condition is sometimes found in multiple members of a family, it is thought to have a genetic component; however, the genetic factors are not fully understood. Researchers suggest that genes important for skin gr... | nonsyndromic aplasia cutis congenita |
Is nonsyndromic aplasia cutis congenita inherited ? | Most cases of nonsyndromic aplasia cutis congenita are sporadic, which means they occur in people with no history of the disorder in their family. When the condition runs in families, inheritance usually follows an autosomal dominant pattern, which means one copy of an altered gene in each cell is sufficient to cause t... | nonsyndromic aplasia cutis congenita |
What are the treatments for nonsyndromic aplasia cutis congenita ? | These resources address the diagnosis or management of nonsyndromic aplasia cutis congenita: - Genetic Testing Registry: Aplasia cutis congenita These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehab... | nonsyndromic aplasia cutis congenita |
What is (are) Kearns-Sayre syndrome ? | Kearns-Sayre syndrome is a condition that affects many parts of the body, especially the eyes. The features of Kearns-Sayre syndrome usually appear before age 20, and the condition is diagnosed by a few characteristic signs and symptoms. People with Kearns-Sayre syndrome have progressive external ophthalmoplegia, which... | Kearns-Sayre syndrome |
How many people are affected by Kearns-Sayre syndrome ? | The prevalence of Kearns-Sayre syndrome is approximately 1 to 3 per 100,000 individuals. | Kearns-Sayre syndrome |
What are the genetic changes related to Kearns-Sayre syndrome ? | Kearns-Sayre syndrome is a condition caused by defects in mitochondria, which are structures within cells that use oxygen to convert the energy from food into a form cells can use. This process is called oxidative phosphorylation. Although most DNA is packaged in chromosomes within the nucleus (nuclear DNA), mitochondr... | Kearns-Sayre syndrome |
Is Kearns-Sayre syndrome inherited ? | This condition is generally not inherited but arises from mutations in the body's cells that occur after conception. This alteration is called a somatic mutation and is present only in certain cells. Rarely, this condition is inherited in a mitochondrial pattern, which is also known as maternal inheritance. This patte... | Kearns-Sayre syndrome |
What are the treatments for Kearns-Sayre syndrome ? | These resources address the diagnosis or management of Kearns-Sayre syndrome: - Gene Review: Gene Review: Mitochondrial DNA Deletion Syndromes - Genetic Testing Registry: Kearns Sayre syndrome These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diag... | Kearns-Sayre syndrome |
What is (are) hypohidrotic ectodermal dysplasia ? | Hypohidrotic ectodermal dysplasia is one of about 150 types of ectodermal dysplasia in humans. Before birth, these disorders result in the abnormal development of structures including the skin, hair, nails, teeth, and sweat glands. Most people with hypohidrotic ectodermal dysplasia have a reduced ability to sweat (hyp... | hypohidrotic ectodermal dysplasia |
How many people are affected by hypohidrotic ectodermal dysplasia ? | Hypohidrotic ectodermal dysplasia is the most common form of ectodermal dysplasia in humans. It is estimated to affect at least 1 in 17,000 people worldwide. | hypohidrotic ectodermal dysplasia |
What are the genetic changes related to hypohidrotic ectodermal dysplasia ? | Mutations in the EDA, EDAR, and EDARADD genes cause hypohidrotic ectodermal dysplasia. The EDA, EDAR, and EDARADD genes provide instructions for making proteins that work together during embryonic development. These proteins form part of a signaling pathway that is critical for the interaction between two cell layers,... | hypohidrotic ectodermal dysplasia |
Is hypohidrotic ectodermal dysplasia inherited ? | Hypohidrotic ectodermal dysplasia has several different inheritance patterns. Most cases are caused by mutations in the EDA gene, which are 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 chrom... | hypohidrotic ectodermal dysplasia |
What are the treatments for hypohidrotic ectodermal dysplasia ? | These resources address the diagnosis or management of hypohidrotic ectodermal dysplasia: - Gene Review: Gene Review: Hypohidrotic Ectodermal Dysplasia - Genetic Testing Registry: Autosomal dominant hypohidrotic ectodermal dysplasia - Genetic Testing Registry: Autosomal recessive hypohidrotic ectodermal dysplasia sy... | hypohidrotic ectodermal dysplasia |
What is (are) dermatofibrosarcoma protuberans ? | Dermatofibrosarcoma protuberans is a rare type of cancer that causes a tumor in the deep layers of skin. This condition is a type of soft tissue sarcoma, which are cancers that affect skin, fat, muscle, and similar tissues. In dermatofibrosarcoma protuberans, the tumor most often starts as a small, firm patch of skin,... | dermatofibrosarcoma protuberans |
How many people are affected by dermatofibrosarcoma protuberans ? | Dermatofibrosarcoma protuberans is estimated to occur in 1 in 100,000 to 1 in 1 million people per year. | dermatofibrosarcoma protuberans |
What are the genetic changes related to dermatofibrosarcoma protuberans ? | Dermatofibrosarcoma protuberans is associated with a rearrangement (translocation) of genetic material between chromosomes 17 and 22. This translocation, written as t(17;22), fuses part of the COL1A1 gene from chromosome 17 with part of the PDGFB gene from chromosome 22. The translocation is found on one or more extra ... | dermatofibrosarcoma protuberans |
Is dermatofibrosarcoma protuberans inherited ? | Dermatofibrosarcoma protuberans results from a new mutation that occurs in the body's cells after conception and is found only in the tumor cells. This type of genetic change is called a somatic mutation and is generally not inherited. | dermatofibrosarcoma protuberans |
What are the treatments for dermatofibrosarcoma protuberans ? | These resources address the diagnosis or management of dermatofibrosarcoma protuberans: - American Cancer Society: How are Soft Tissue Sarcomas Diagnosed? - American Cancer Society: Treatment of Soft Tissue Sarcomas - Genetic Testing Registry: Dermatofibrosarcoma protuberans - National Cancer Institute: Adult Soft ... | dermatofibrosarcoma protuberans |
What is (are) Pitt-Hopkins syndrome ? | Pitt-Hopkins syndrome is a condition characterized by intellectual disability and developmental delay, breathing problems, recurrent seizures (epilepsy), and distinctive facial features. People with Pitt-Hopkins syndrome have moderate to severe intellectual disability. Most affected individuals have delayed developmen... | Pitt-Hopkins syndrome |
How many people are affected by Pitt-Hopkins syndrome ? | Pitt-Hopkins syndrome is thought to be a very rare condition. Approximately 500 affected individuals have been reported worldwide. | Pitt-Hopkins syndrome |
What are the genetic changes related to Pitt-Hopkins syndrome ? | Mutations in the TCF4 gene cause Pitt-Hopkins syndrome. This gene provides instructions for making a protein that attaches (binds) to other proteins and then binds to specific regions of DNA to help control the activity of many other genes. On the basis of its DNA binding and gene controlling activities, the TCF4 prote... | Pitt-Hopkins syndrome |
Is Pitt-Hopkins 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. | Pitt-Hopkins syndrome |
What are the treatments for Pitt-Hopkins syndrome ? | These resources address the diagnosis or management of Pitt-Hopkins syndrome: - Gene Review: Gene Review: Pitt-Hopkins Syndrome - Genetic Testing Registry: Pitt-Hopkins syndrome These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests -... | Pitt-Hopkins syndrome |
What is (are) PPM-X syndrome ? | PPM-X syndrome is a condition characterized by psychotic disorders (most commonly bipolar disorder), a pattern of movement abnormalities known as parkinsonism, and mild to severe intellectual disability. Other symptoms include increased muscle tone and exaggerated reflexes. Affected males may have enlarged testes (macr... | PPM-X syndrome |
How many people are affected by PPM-X syndrome ? | The prevalence of PPM-X syndrome is unknown. | PPM-X syndrome |
What are the genetic changes related to PPM-X syndrome ? | Mutations in the MECP2 gene cause PPM-X syndrome. The MECP2 gene provides instructions for making a protein called MeCP2 that is critical for normal brain function. Researchers believe that this protein has several functions, including regulating other genes in the brain by switching them off when they are not needed. ... | PPM-X syndrome |
Is PPM-X syndrome inherited ? | More than 99 percent of PPM-X syndrome cases occur in people with no history of the disorder in their family. Many of these cases result from new mutations in the MECP2 gene. A few families with more than one affected family member have been described. These cases helped researchers determine that PPM-X syndrome has a... | PPM-X syndrome |
What are the treatments for PPM-X syndrome ? | These resources address the diagnosis or management of PPM-X syndrome: - Cincinnati Children's Hospital: MECP2-Related Disorders - Gene Review: Gene Review: MECP2-Related Disorders These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests... | PPM-X syndrome |
What is (are) cardiofaciocutaneous syndrome ? | Cardiofaciocutaneous syndrome is a disorder that affects many parts of the body, particularly the heart (cardio-), facial features (facio-), and the skin and hair (cutaneous). People with this condition also have delayed development and intellectual disability, usually ranging from moderate to severe. Heart defects oc... | cardiofaciocutaneous syndrome |
How many people are affected by cardiofaciocutaneous syndrome ? | Cardiofaciocutaneous syndrome is a very rare condition whose incidence is unknown. Researchers estimate that 200 to 300 people worldwide have this condition. | cardiofaciocutaneous syndrome |
What are the genetic changes related to cardiofaciocutaneous syndrome ? | Cardiofaciocutaneous syndrome can be caused by mutations in several genes. Mutations in the BRAF gene are most common, accounting for 75 to 80 percent of all cases. Another 10 to 15 percent of cases result from mutations in one of two similar genes, MAP2K1 and MAP2K2. Fewer than 5 percent of cases are caused by mutatio... | cardiofaciocutaneous syndrome |
Is cardiofaciocutaneous syndrome inherited ? | Cardiofaciocutaneous syndrome is considered to be an autosomal dominant condition, which means one copy of an altered gene in each cell is sufficient to cause the disorder. Cardiofaciocutaneous syndrome usually results from new gene mutations and occurs in people with no history of the disorder in their family. In a f... | cardiofaciocutaneous syndrome |
What are the treatments for cardiofaciocutaneous syndrome ? | These resources address the diagnosis or management of cardiofaciocutaneous syndrome: - Gene Review: Gene Review: Cardiofaciocutaneous Syndrome - Genetic Testing Registry: Cardiofaciocutaneous syndrome These resources from MedlinePlus offer information about the diagnosis and management of various health conditions... | cardiofaciocutaneous syndrome |
What is (are) Ghosal hematodiaphyseal dysplasia ? | Ghosal hematodiaphyseal dysplasia is a rare inherited condition characterized by abnormally thick bones and a shortage of red blood cells (anemia). Signs and symptoms of the condition become apparent in early childhood. In affected individuals, the long bones in the arms and legs are unusually dense and wide. The bone... | Ghosal hematodiaphyseal dysplasia |
How many people are affected by Ghosal hematodiaphyseal dysplasia ? | Ghosal hematodiaphyseal dysplasia is a rare disorder; only a few cases have been reported in the medical literature. Most affected individuals have been from the Middle East and India. | Ghosal hematodiaphyseal dysplasia |
What are the genetic changes related to Ghosal hematodiaphyseal dysplasia ? | Ghosal hematodiaphyseal dysplasia results from mutations in the TBXAS1 gene. This gene provides instructions for making an enzyme called thromboxane A synthase 1, which acts as part of a chemical signaling pathway involved in normal blood clotting (hemostasis). Based on its role in Ghosal hematodiaphyseal dysplasia, re... | Ghosal hematodiaphyseal dysplasia |
Is Ghosal hematodiaphyseal dysplasia 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. | Ghosal hematodiaphyseal dysplasia |
What are the treatments for Ghosal hematodiaphyseal dysplasia ? | These resources address the diagnosis or management of Ghosal hematodiaphyseal dysplasia: - Genetic Testing Registry: Ghosal syndrome - National Heart, Lung, and Blood Institute: How is Anemia Diagnosed? - National Heart, Lung, and Blood Institute: How is Anemia Treated? These resources from MedlinePlus offer info... | Ghosal hematodiaphyseal dysplasia |
What is (are) Bart-Pumphrey syndrome ? | Bart-Pumphrey syndrome is characterized by nail and skin abnormalities and hearing loss. People with Bart-Pumphrey syndrome typically have a white discoloration of the nails (leukonychia); the nails may also be thick and crumbly. Affected individuals often have wart-like (verrucous) skin growths called knuckle pads on... | Bart-Pumphrey syndrome |
How many people are affected by Bart-Pumphrey syndrome ? | Bart-Pumphrey syndrome is a rare disorder; its exact prevalence is unknown. Only a few affected families and individual cases have been identified. | Bart-Pumphrey syndrome |
What are the genetic changes related to Bart-Pumphrey syndrome ? | Bart-Pumphrey syndrome is caused by mutations in the GJB2 gene. This 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 junctions that permit the transport of n... | Bart-Pumphrey syndrome |
Is Bart-Pumphrey 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 most cases, an affected person has one parent with the condition. Other cases result from new mutations in the gene and occur in people with no history of the disor... | Bart-Pumphrey syndrome |
What are the treatments for Bart-Pumphrey syndrome ? | These resources address the diagnosis or management of Bart-Pumphrey syndrome: - Foundation for Ichthyosis and Related Skin Types: Palmoplantar Keratoderma - Genetic Testing Registry: Knuckle pads, deafness AND leukonychia syndrome These resources from MedlinePlus offer information about the diagnosis and managemen... | Bart-Pumphrey syndrome |
What is (are) coloboma ? | Coloboma is an eye abnormality that occurs before birth. Colobomas are missing pieces of tissue in structures that form the eye. They may appear as notches or gaps in one of several parts of the eye, including the colored part of the eye called the iris; the retina, which is the specialized light-sensitive tissue that ... | coloboma |
How many people are affected by coloboma ? | Coloboma occurs in approximately 1 in 10,000 people. Because coloboma does not always affect vision or the outward appearance of the eye, some people with this condition are likely undiagnosed. | coloboma |
What are the genetic changes related to coloboma ? | Coloboma arises from abnormal development of the eye. During the second month of development before birth, a seam called the optic fissure (also known as the choroidal fissure or embryonic fissure) closes to form the structures of the eye. When the optic fissure does not close completely, the result is a coloboma. The ... | coloboma |
Is coloboma inherited ? | Most often, isolated coloboma is not inherited, and there is only one affected individual in a family. However, the affected individual is still at risk of passing the coloboma on to his or her own children. In cases when it is passed down in families, coloboma can have different inheritance patterns. Isolated colobom... | coloboma |
What are the treatments for coloboma ? | These resources address the diagnosis or management of coloboma: - Genetic Testing Registry: Congenital ocular coloboma - Genetic Testing Registry: Microphthalmia, isolated, with coloboma 1 - Genetic Testing Registry: Microphthalmia, isolated, with coloboma 2 - Genetic Testing Registry: Microphthalmia, isolated, wi... | coloboma |
Subsets and Splits
No community queries yet
The top public SQL queries from the community will appear here once available.