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What is (are) 18q deletion syndrome ? | 18q deletion syndrome is a chromosomal condition that results when a piece of chromosome 18 is missing. The condition can lead to a wide variety of signs and symptoms among affected individuals. Most people with 18q deletion syndrome have intellectual disability and delayed development that can range from mild to seve... | 18q deletion syndrome |
How many people are affected by 18q deletion syndrome ? | 18q deletion syndrome occurs in an estimated 1 in 40,000 newborns. This condition is found in people of all ethnic backgrounds. | 18q deletion syndrome |
What are the genetic changes related to 18q deletion syndrome ? | 18q deletion syndrome is caused by a deletion of genetic material from the long (q) arm of chromosome 18. This chromosomal change is written as 18q-. The size of the deletion and its location on the chromosome vary among affected individuals. The signs and symptoms of 18q deletion syndrome, including the leukodystroph... | 18q deletion syndrome |
Is 18q deletion syndrome inherited ? | Most cases of 18q deletion syndrome are not inherited. The deletion occurs most often as a random event during the formation of reproductive cells (eggs or sperm) or in early fetal development. Affected people typically have no history of the disorder in their family. In some cases, 18q deletion syndrome is inherited,... | 18q deletion syndrome |
What are the treatments for 18q deletion syndrome ? | These resources address the diagnosis or management of 18q deletion syndrome: - Gene Review: Gene Review: Leukodystrophy Overview - University of Texas Chromosome 18 Clinical Research Center These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagno... | 18q deletion syndrome |
What is (are) CHST3-related skeletal dysplasia ? | CHST3-related skeletal dysplasia is a genetic condition characterized by bone and joint abnormalities that worsen over time. Affected individuals have short stature throughout life, with an adult height under 4 and a half feet. Joint dislocations, most often affecting the knees, hips, and elbows, are present at birth (... | CHST3-related skeletal dysplasia |
How many people are affected by CHST3-related skeletal dysplasia ? | The prevalence of CHST3-related skeletal dysplasia is unknown. More than 30 affected individuals have been reported. | CHST3-related skeletal dysplasia |
What are the genetic changes related to CHST3-related skeletal dysplasia ? | As its name suggests, CHST3-related skeletal dysplasia results from mutations in the CHST3 gene. This gene provides instructions for making an enzyme called C6ST-1, which is essential for the normal development of cartilage. Cartilage is a tough, flexible tissue that makes up much of the skeleton during early developme... | CHST3-related skeletal dysplasia |
Is CHST3-related skeletal 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. | CHST3-related skeletal dysplasia |
What are the treatments for CHST3-related skeletal dysplasia ? | These resources address the diagnosis or management of CHST3-related skeletal dysplasia: - Gene Review: Gene Review: CHST3-Related Skeletal Dysplasia - Genetic Testing Registry: Spondyloepiphyseal dysplasia with congenital joint dislocations These resources from MedlinePlus offer information about the diagnosis and... | CHST3-related skeletal dysplasia |
What is (are) X-linked spondyloepiphyseal dysplasia tarda ? | X-linked spondyloepiphyseal dysplasia tarda is a condition that impairs bone growth and occurs almost exclusively in males. The name of the condition indicates that it affects the bones of the spine (spondylo-) and the ends (epiphyses) of long bones in the arms and legs. "Tarda" indicates that signs and symptoms of thi... | X-linked spondyloepiphyseal dysplasia tarda |
How many people are affected by X-linked spondyloepiphyseal dysplasia tarda ? | The prevalence of X-linked spondyloepiphyseal dysplasia tarda is estimated to be 1 in 150,000 to 200,000 people worldwide. | X-linked spondyloepiphyseal dysplasia tarda |
What are the genetic changes related to X-linked spondyloepiphyseal dysplasia tarda ? | Mutations in the TRAPPC2 gene (often called the SEDL gene) cause X-linked spondyloepiphyseal dysplasia tarda. The TRAPPC2 gene provides instructions for producing the protein sedlin. The function of sedlin is unclear. Researchers believe that sedlin is part of a large molecule called the trafficking protein particle (T... | X-linked spondyloepiphyseal dysplasia tarda |
Is X-linked spondyloepiphyseal dysplasia tarda inherited ? | X-linked spondyloepiphyseal dysplasia tarda is inherited in an X-linked recessive pattern. The TRAPPC2 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 copy of the gene in each cell is sufficient to cause the condition. In females (who ... | X-linked spondyloepiphyseal dysplasia tarda |
What are the treatments for X-linked spondyloepiphyseal dysplasia tarda ? | These resources address the diagnosis or management of X-linked spondyloepiphyseal dysplasia tarda: - Gene Review: Gene Review: X-Linked Spondyloepiphyseal Dysplasia Tarda - Genetic Testing Registry: Spondyloepiphyseal dysplasia tarda These resources from MedlinePlus offer information about the diagnosis and manage... | X-linked spondyloepiphyseal dysplasia tarda |
What is (are) thiopurine S-methyltransferase deficiency ? | Thiopurine S-methyltransferase (TPMT) deficiency is a condition characterized by significantly reduced activity of an enzyme that helps the body process drugs called thiopurines. These drugs, which include 6-thioguanine, 6-mercaptopurine, and azathioprine, inhibit (suppress) the body's immune system. Thiopurine drugs a... | thiopurine S-methyltransferase deficiency |
How many people are affected by thiopurine S-methyltransferase deficiency ? | Studies suggest that less than 1 percent of individuals in the general population have TPMT deficiency. Another 11 percent have moderately reduced levels of TPMT activity that increase their risk of hematopoietic toxicity with thiopurine drug treatment. | thiopurine S-methyltransferase deficiency |
What are the genetic changes related to thiopurine S-methyltransferase deficiency ? | TPMT deficiency results from changes in the TPMT gene. This gene provides instructions for making the TPMT enzyme, which plays a critical role in breaking down (metabolizing) thiopurine drugs. Once inside the body, these drugs are converted to toxic compounds that kill immune system cells in the bone marrow. The TPMT e... | thiopurine S-methyltransferase deficiency |
Is thiopurine S-methyltransferase deficiency inherited ? | The activity of the TPMT enzyme is inherited in a pattern described as autosomal codominant. Codominance means that two different versions of the gene are active (expressed), and both versions influence the genetic trait. The TPMT gene can be classified as either low-activity or high-activity. When the gene is altered... | thiopurine S-methyltransferase deficiency |
What are the treatments for thiopurine S-methyltransferase deficiency ? | These resources address the diagnosis or management of thiopurine S-methyltransferase deficiency: - MedlinePlus Drug: Azathioprine - MedlinePlus Drug: Mercaptopurine - MedlinePlus Drug: Thioguanine These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: ... | thiopurine S-methyltransferase deficiency |
What is (are) 7q11.23 duplication syndrome ? | 7q11.23 duplication syndrome is a condition that can cause a variety of neurological and behavioral problems as well as other abnormalities. People with 7q11.23 duplication syndrome typically have delayed development of speech and delayed motor skills such as crawling and walking. Speech problems and abnormalities in ... | 7q11.23 duplication syndrome |
How many people are affected by 7q11.23 duplication syndrome ? | The prevalence of this disorder is estimated to be 1 in 7,500 to 20,000 people. | 7q11.23 duplication syndrome |
What are the genetic changes related to 7q11.23 duplication syndrome ? | 7q11.23 duplication syndrome results from an extra copy of a region on the long (q) arm of chromosome 7 in each cell. This region is called the Williams-Beuren syndrome critical region (WBSCR) because its deletion causes a different disorder called Williams syndrome, also known as Williams-Beuren syndrome. The region, ... | 7q11.23 duplication syndrome |
Is 7q11.23 duplication syndrome inherited ? | 7q11.23 duplication syndrome is considered to be an autosomal dominant condition, which means one copy of chromosome 7 with the duplication in each cell is sufficient to cause the disorder. Most cases result from a duplication that occurs during the formation of reproductive cells (eggs and sperm) or in early fetal dev... | 7q11.23 duplication syndrome |
What are the treatments for 7q11.23 duplication syndrome ? | These resources address the diagnosis or management of 7q11.23 duplication syndrome: - Cardiff University (United Kingdom): Copy Number Variant Research - Gene Review: Gene Review: 7q11.23 Duplication Syndrome - Genetic Testing Registry: Williams-Beuren region duplication syndrome - University of Antwerp (Belgium):... | 7q11.23 duplication syndrome |
What is (are) 22q11.2 deletion syndrome ? | 22q11.2 deletion syndrome (which is also known by several other names, listed below) is a disorder caused by the deletion of a small piece of chromosome 22. The deletion occurs near the middle of the chromosome at a location designated q11.2. 22q11.2 deletion syndrome has many possible signs and symptoms that can affe... | 22q11.2 deletion syndrome |
How many people are affected by 22q11.2 deletion syndrome ? | 22q11.2 deletion syndrome affects an estimated 1 in 4,000 people. However, the condition may actually be more common than this estimate because doctors and researchers suspect it is underdiagnosed due to its variable features. The condition may not be identified in people with mild signs and symptoms, or it may be mist... | 22q11.2 deletion syndrome |
What are the genetic changes related to 22q11.2 deletion syndrome ? | Most people with 22q11.2 deletion syndrome are missing a sequence of about 3 million DNA building blocks (base pairs) on one copy of chromosome 22 in each cell. This region contains 30 to 40 genes, many of which have not been well characterized. A small percentage of affected individuals have shorter deletions in the s... | 22q11.2 deletion syndrome |
Is 22q11.2 deletion syndrome inherited ? | The inheritance of 22q11.2 deletion syndrome is considered autosomal dominant because a deletion in one copy of chromosome 22 in each cell is sufficient to cause the condition. Most cases of 22q11.2 deletion syndrome are not inherited, however. The deletion occurs most often as a random event during the formation of re... | 22q11.2 deletion syndrome |
What are the treatments for 22q11.2 deletion syndrome ? | These resources address the diagnosis or management of 22q11.2 deletion syndrome: - Gene Review: Gene Review: 22q11.2 Deletion Syndrome - Genetic Testing Registry: Asymmetric crying face association - Genetic Testing Registry: DiGeorge sequence - Genetic Testing Registry: Opitz G/BBB syndrome - Genetic Testing Reg... | 22q11.2 deletion syndrome |
What is (are) diastrophic dysplasia ? | Diastrophic dysplasia is a disorder of cartilage and bone development. Affected individuals have short stature with very short arms and legs. Most also have early-onset joint pain (osteoarthritis) and joint deformities called contractures, which restrict movement. These joint problems often make it difficult to walk an... | diastrophic dysplasia |
How many people are affected by diastrophic dysplasia ? | Although the exact incidence of this condition is unknown, researchers estimate that it affects about 1 in 100,000 newborns. Diastrophic dysplasia occurs in all populations but appears to be particularly common in Finland. | diastrophic dysplasia |
What are the genetic changes related to diastrophic dysplasia ? | Diastrophic dysplasia is one of several skeletal disorders caused by mutations in the SLC26A2 gene. This gene provides instructions for making a protein that is essential for the normal development of cartilage and for its conversion to bone. Cartilage is a tough, flexible tissue that makes up much of the skeleton duri... | diastrophic dysplasia |
Is diastrophic 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. | diastrophic dysplasia |
What are the treatments for diastrophic dysplasia ? | These resources address the diagnosis or management of diastrophic dysplasia: - Gene Review: Gene Review: Diastrophic Dysplasia - Genetic Testing Registry: Diastrophic dysplasia These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests -... | diastrophic dysplasia |
What is (are) congenital cataracts, facial dysmorphism, and neuropathy ? | Congenital cataracts, facial dysmorphism, and neuropathy (CCFDN) is a rare disorder that affects several parts of the body. It is characterized by a clouding of the lens of the eyes at birth (congenital cataracts) and other eye abnormalities, such as small or poorly developed eyes (microphthalmia) and abnormal eye move... | congenital cataracts, facial dysmorphism, and neuropathy |
How many people are affected by congenital cataracts, facial dysmorphism, and neuropathy ? | The prevalence of CCFDN is unknown. The disorder has been identified in about 150 individuals of Romani ethnicity. Thus far, no affected individuals have been observed outside this community. | congenital cataracts, facial dysmorphism, and neuropathy |
What are the genetic changes related to congenital cataracts, facial dysmorphism, and neuropathy ? | A mutation in the CTDP1 gene causes CCFDN. The CTDP1 gene provides instructions for making a protein called carboxy-terminal domain phosphatase 1. This protein helps regulate the process of transcription, which is a key step in using the information carried by genes to direct the production (synthesis) of proteins. Al... | congenital cataracts, facial dysmorphism, and neuropathy |
Is congenital cataracts, facial dysmorphism, and neuropathy 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. | congenital cataracts, facial dysmorphism, and neuropathy |
What are the treatments for congenital cataracts, facial dysmorphism, and neuropathy ? | These resources address the diagnosis or management of CCFDN: - Gene Review: Gene Review: Congenital Cataracts, Facial Dysmorphism, and Neuropathy - Genetic Testing Registry: Congenital Cataracts, Facial Dysmorphism, and Neuropathy - MedlinePlus Encyclopedia: Congenital Cataract - MedlinePlus Encyclopedia: Peripher... | congenital cataracts, facial dysmorphism, and neuropathy |
What is (are) multiple mitochondrial dysfunctions syndrome ? | Multiple mitochondrial dysfunctions syndrome is characterized by impairment of cellular structures called mitochondria, which are the energy-producing centers of cells. While certain mitochondrial disorders are caused by impairment of a single stage of energy production, individuals with multiple mitochondrial dysfunct... | multiple mitochondrial dysfunctions syndrome |
How many people are affected by multiple mitochondrial dysfunctions syndrome ? | Multiple mitochondrial dysfunctions syndrome is a rare condition; its prevalence is unknown. It is one of several conditions classified as mitochondrial disorders, which affect an estimated 1 in 5,000 people worldwide. | multiple mitochondrial dysfunctions syndrome |
What are the genetic changes related to multiple mitochondrial dysfunctions syndrome ? | Multiple mitochondrial dysfunctions syndrome can be caused by mutations in the NFU1 or BOLA3 gene. The proteins produced from each of these genes appear to be involved in the formation of molecules called iron-sulfur (Fe-S) clusters or in the attachment of these clusters to other proteins. Certain proteins require atta... | multiple mitochondrial dysfunctions syndrome |
Is multiple mitochondrial dysfunctions 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. | multiple mitochondrial dysfunctions syndrome |
What are the treatments for multiple mitochondrial dysfunctions syndrome ? | These resources address the diagnosis or management of multiple mitochondrial dysfunctions syndrome: - Gene Review: Gene Review: Mitochondrial Disorders Overview - Genetic Testing Registry: Multiple mitochondrial dysfunctions syndrome 1 - Genetic Testing Registry: Multiple mitochondrial dysfunctions syndrome 2 - Ge... | multiple mitochondrial dysfunctions syndrome |
What is (are) Dowling-Degos disease ? | Dowling-Degos disease is a skin condition characterized by a lacy or net-like (reticulate) pattern of abnormally dark skin coloring (hyperpigmentation), particularly in the body's folds and creases. These skin changes typically first appear in the armpits and groin area and can later spread to other skin folds such as ... | Dowling-Degos disease |
How many people are affected by Dowling-Degos disease ? | Dowling-Degos disease appears to be a rare condition, although its prevalence is unknown. | Dowling-Degos disease |
What are the genetic changes related to Dowling-Degos disease ? | Mutations in the KRT5 gene cause Dowling-Degos disease. The KRT5 gene provides instructions for making a protein called keratin 5. Keratins are a family of proteins that form the structural framework of certain cells, particularly cells that make up the skin, hair, and nails. Keratin 5 is produced in cells called kerat... | Dowling-Degos disease |
Is Dowling-Degos disease 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. | Dowling-Degos disease |
What are the treatments for Dowling-Degos disease ? | These resources address the diagnosis or management of Dowling-Degos disease: - Cleveland Clinic: Skin Care Concerns - Genetic Testing Registry: Reticulate acropigmentation of Kitamura These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic T... | Dowling-Degos disease |
What is (are) Sandhoff disease ? | Sandhoff disease is a rare inherited disorder that progressively destroys nerve cells (neurons) in the brain and spinal cord. The most common and severe form of Sandhoff disease becomes apparent in infancy. Infants with this disorder typically appear normal until the age of 3 to 6 months, when their development slows ... | Sandhoff disease |
How many people are affected by Sandhoff disease ? | Sandhoff disease is a rare disorder; its frequency varies among populations. This condition appears to be more common in the Creole population of northern Argentina; the Metis Indians in Saskatchewan, Canada; and people from Lebanon. | Sandhoff disease |
What are the genetic changes related to Sandhoff disease ? | Mutations in the HEXB gene cause Sandhoff disease. The HEXB gene provides instructions for making a protein that is part of two critical enzymes in the nervous system, beta-hexosaminidase A and beta-hexosaminidase B. These enzymes are located in lysosomes, which are structures in cells that break down toxic substances ... | Sandhoff disease |
Is Sandhoff 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. | Sandhoff disease |
What are the treatments for Sandhoff disease ? | These resources address the diagnosis or management of Sandhoff disease: - Genetic Testing Registry: Sandhoff disease These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counse... | Sandhoff disease |
What is (are) dihydrolipoamide dehydrogenase deficiency ? | Dihydrolipoamide dehydrogenase deficiency is a severe condition that can affect several body systems. Signs and symptoms of this condition usually appear shortly after birth, and they can vary widely among affected individuals. A common feature of dihydrolipoamide dehydrogenase deficiency is a potentially life-threate... | dihydrolipoamide dehydrogenase deficiency |
How many people are affected by dihydrolipoamide dehydrogenase deficiency ? | Dihydrolipoamide dehydrogenase deficiency occurs in an estimated 1 in 35,000 to 48,000 individuals of Ashkenazi Jewish descent. This population typically has liver disease as the primary symptom. In other populations, the prevalence of dihydrolipoamide dehydrogenase deficiency is unknown, but the condition is likely ra... | dihydrolipoamide dehydrogenase deficiency |
What are the genetic changes related to dihydrolipoamide dehydrogenase deficiency ? | Mutations in the DLD gene cause dihydrolipoamide dehydrogenase deficiency. This gene provides instructions for making an enzyme called dihydrolipoamide dehydrogenase (DLD). DLD is one component of three different groups of enzymes that work together (enzyme complexes): branched-chain alpha-keto acid dehydrogenase (BCKD... | dihydrolipoamide dehydrogenase deficiency |
Is dihydrolipoamide dehydrogenase 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. | dihydrolipoamide dehydrogenase deficiency |
What are the treatments for dihydrolipoamide dehydrogenase deficiency ? | These resources address the diagnosis or management of dihydrolipoamide dehydrogenase deficiency: - Gene Review: Gene Review: Dihydrolipoamide Dehydrogenase Deficiency - Genetic Testing Registry: Maple syrup urine disease, type 3 These resources from MedlinePlus offer information about the diagnosis and management ... | dihydrolipoamide dehydrogenase deficiency |
What is (are) spondyloperipheral dysplasia ? | Spondyloperipheral dysplasia is a disorder that impairs bone growth. This condition is characterized by flattened bones of the spine (platyspondyly) and unusually short fingers and toes (brachydactyly), with the exception of the first (big) toes. Other skeletal abnormalities associated with spondyloperipheral dysplasia... | spondyloperipheral dysplasia |
How many people are affected by spondyloperipheral dysplasia ? | This condition is rare; only a few affected individuals have been reported worldwide. | spondyloperipheral dysplasia |
What are the genetic changes related to spondyloperipheral dysplasia ? | Spondyloperipheral dysplasia is one of a spectrum of skeletal disorders caused by mutations in the COL2A1 gene. This gene provides instructions for making a protein that forms type II collagen. This type of collagen is found mostly in the clear gel that fills the eyeball (the vitreous) and in cartilage. Cartilage is a ... | spondyloperipheral dysplasia |
Is spondyloperipheral dysplasia inherited ? | This condition is probably inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. | spondyloperipheral dysplasia |
What are the treatments for spondyloperipheral dysplasia ? | These resources address the diagnosis or management of spondyloperipheral dysplasia: - Genetic Testing Registry: Spondyloperipheral dysplasia - MedlinePlus Encyclopedia: Nearsightedness These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic ... | spondyloperipheral dysplasia |
What is (are) intrauterine growth restriction, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies ? | The combination of intrauterine growth restriction, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies is commonly known by the acronym IMAGe. This rare syndrome has signs and symptoms that affect many parts of the body. Most affected individuals grow slowly before birth (intrauterine growth re... | intrauterine growth restriction, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies |
How many people are affected by intrauterine growth restriction, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies ? | IMAGe syndrome is very rare, with only about 20 cases reported in the medical literature. The condition has been diagnosed more often in males than in females, probably because females do not have associated genital abnormalities. | intrauterine growth restriction, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies |
What are the genetic changes related to intrauterine growth restriction, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies ? | IMAGe syndrome is caused by mutations in the CDKN1C gene. This gene provides instructions for making a protein that helps control growth before birth. The mutations that cause IMAGe syndrome alter the structure and function of the CDKN1C protein, which inhibits normal growth starting in the early stages of development ... | intrauterine growth restriction, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies |
Is intrauterine growth restriction, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies inherited ? | The inheritance of IMAGe syndrome is complex. The condition is described as having an autosomal dominant inheritance pattern because one copy of the altered CDKN1C gene in each cell is sufficient to cause the disorder. However, because this gene is paternally imprinted, IMAGe syndrome results only when the mutation is ... | intrauterine growth restriction, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies |
What are the treatments for intrauterine growth restriction, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies ? | These resources address the diagnosis or management of IMAGe syndrome: - Gene Review: Gene Review: IMAGe Syndrome - Genetic Testing Registry: Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies - National Institutes of Health Clinical Center: Managing Adrenal I... | intrauterine growth restriction, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies |
What is (are) SOST-related sclerosing bone dysplasia ? | SOST-related sclerosing bone dysplasia is a disorder of bone development characterized by excessive bone formation (hyperostosis). As a result of hyperostosis, bones throughout the body are denser and wider than normal, particularly the bones of the skull. Affected individuals typically have an enlarged jaw with misali... | SOST-related sclerosing bone dysplasia |
How many people are affected by SOST-related sclerosing bone dysplasia ? | SOST-related sclerosing bone dysplasia is a rare condition; its exact prevalence is unknown. Approximately 100 individuals with sclerosteosis have been reported in the scientific literature. Sclerosteosis is most common in the Afrikaner population of South Africa. Van Buchem disease has been reported in approximately... | SOST-related sclerosing bone dysplasia |
What are the genetic changes related to SOST-related sclerosing bone dysplasia ? | SOST-related sclerosing bone dysplasia is caused by mutations in or near the SOST gene. The SOST gene provides instructions for making the protein sclerostin. Sclerostin is produced in osteocytes, which are a type of bone cell. The main function of sclerostin is to stop (inhibit) bone formation. Mutations in the SOST ... | SOST-related sclerosing bone dysplasia |
Is SOST-related sclerosing bone 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. | SOST-related sclerosing bone dysplasia |
What are the treatments for SOST-related sclerosing bone dysplasia ? | These resources address the diagnosis or management of SOST-related sclerosing bone dysplasia: - Gene Review: Gene Review: SOST-Related Sclerosing Bone Dysplasias - Genetic Testing Registry: Hyperphosphatasemia tarda - Genetic Testing Registry: Sclerosteosis - MedlinePlus Encyclopedia: Facial Paralysis - MedlinePl... | SOST-related sclerosing bone dysplasia |
What is (are) spondyloenchondrodysplasia with immune dysregulation ? | Spondyloenchondrodysplasia with immune dysregulation (SPENCDI) is an inherited condition that primarily affects bone growth and immune system function. The signs and symptoms of SPENCDI can become apparent anytime from infancy to adolescence. Bone abnormalities in individuals with SPENCDI include flattened spinal bone... | spondyloenchondrodysplasia with immune dysregulation |
How many people are affected by spondyloenchondrodysplasia with immune dysregulation ? | SPENCDI appears to be a rare condition, although its prevalence is unknown. | spondyloenchondrodysplasia with immune dysregulation |
What are the genetic changes related to spondyloenchondrodysplasia with immune dysregulation ? | Mutations in the ACP5 gene cause SPENCDI. This gene provides instructions for making an enzyme called tartrate-resistant acid phosphatase type 5 (TRAP). The TRAP enzyme primarily regulates the activity of a protein called osteopontin, which is produced in bone cells called osteoclasts and in immune cells. Osteopontin p... | spondyloenchondrodysplasia with immune dysregulation |
Is spondyloenchondrodysplasia with immune dysregulation 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. | spondyloenchondrodysplasia with immune dysregulation |
What are the treatments for spondyloenchondrodysplasia with immune dysregulation ? | These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care | spondyloenchondrodysplasia with immune dysregulation |
What is (are) Kniest dysplasia ? | Kniest dysplasia is a disorder of bone growth characterized by short stature (dwarfism) with other skeletal abnormalities and problems with vision and hearing. People with Kniest dysplasia are born with a short trunk and shortened arms and legs. Adult height ranges from 42 inches to 58 inches. Affected individuals hav... | Kniest dysplasia |
How many people are affected by Kniest dysplasia ? | Kniest dysplasia is a rare condition; the exact incidence is unknown. | Kniest dysplasia |
What are the genetic changes related to Kniest dysplasia ? | Kniest dysplasia is one of a spectrum of skeletal disorders caused by mutations in the COL2A1 gene. This gene provides instructions for making a protein that forms type II collagen. This type of collagen is found mostly in the clear gel that fills the eyeball (the vitreous) and in cartilage. Cartilage is a tough, flexi... | Kniest dysplasia |
Is Kniest dysplasia 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. | Kniest dysplasia |
What are the treatments for Kniest dysplasia ? | These resources address the diagnosis or management of Kniest dysplasia: - Genetic Testing Registry: Kniest dysplasia - MedlinePlus Encyclopedia: Clubfoot - MedlinePlus Encyclopedia: Retinal Detachment - MedlinePlus Encyclopedia: Scoliosis These resources from MedlinePlus offer information about the diagnosis and... | Kniest dysplasia |
What is (are) hypochromic microcytic anemia with iron overload ? | Hypochromic microcytic anemia with iron overload is a condition that impairs the normal transport of iron in cells. Iron is an essential component of hemoglobin, which is the substance that red blood cells use to carry oxygen to cells and tissues throughout the body. In this condition, red blood cells cannot access iro... | hypochromic microcytic anemia with iron overload |
How many people are affected by hypochromic microcytic anemia with iron overload ? | Hypochromic microcytic anemia with iron overload is likely a rare disorder; at least five affected families have been reported in the scientific literature. | hypochromic microcytic anemia with iron overload |
What are the genetic changes related to hypochromic microcytic anemia with iron overload ? | Mutations in the SLC11A2 gene cause hypochromic microcytic anemia with iron overload. The SLC11A2 gene provides instructions for making a protein called divalent metal transporter 1 (DMT1). The DMT1 protein is found in all tissues, where its primary role is to transport positively charged iron atoms (ions) within cells... | hypochromic microcytic anemia with iron overload |
Is hypochromic microcytic anemia with iron overload 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. | hypochromic microcytic anemia with iron overload |
What are the treatments for hypochromic microcytic anemia with iron overload ? | These resources address the diagnosis or management of hypochromic microcytic anemia with iron overload: - Genetic Testing Registry: Hypochromic microcytic anemia with iron overload These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests... | hypochromic microcytic anemia with iron overload |
What is (are) erythrokeratodermia variabilis et progressiva ? | Erythrokeratodermia variabilis et progressiva (EKVP) is a skin disorder that is present at birth or becomes apparent in infancy. Although its signs and symptoms vary, the condition is characterized by two major features. The first is areas of hyperkeratosis, which is rough, thickened skin. These thickened patches are u... | erythrokeratodermia variabilis et progressiva |
How many people are affected by erythrokeratodermia variabilis et progressiva ? | EKVP is a rare disorder; its prevalence is unknown. | erythrokeratodermia variabilis et progressiva |
What are the genetic changes related to erythrokeratodermia variabilis et progressiva ? | EKVP can be caused by mutations in the GJB3 or GJB4 gene. These genes provide instructions for making proteins called connexin 31 and connexin 30.3, respectively. These proteins are part of the connexin family, a group of proteins that form channels called gap junctions on the surface of cells. Gap junctions open and c... | erythrokeratodermia variabilis et progressiva |
Is erythrokeratodermia variabilis et progressiva inherited ? | EKVP is most often inherited in an autosomal dominant pattern, which means one copy of an altered gene in each cell is sufficient to cause the disorder. In most cases, an affected person inherits the mutation from one affected parent. Other cases result from new gene mutations and occur in people with no history of the... | erythrokeratodermia variabilis et progressiva |
What are the treatments for erythrokeratodermia variabilis et progressiva ? | These resources address the diagnosis or management of EKVP: - Genetic Testing Registry: Erythrokeratodermia variabilis These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Coun... | erythrokeratodermia variabilis et progressiva |
What is (are) Moebius syndrome ? | Moebius syndrome is a rare neurological condition that primarily affects the muscles that control facial expression and eye movement. The signs and symptoms of this condition are present from birth. Weakness or paralysis of the facial muscles is one of the most common features of Moebius syndrome. Affected individuals... | Moebius syndrome |
How many people are affected by Moebius syndrome ? | The exact incidence of Moebius syndrome is unknown. Researchers estimate that the condition affects 1 in 50,000 to 1 in 500,000 newborns. | Moebius syndrome |
What are the genetic changes related to Moebius syndrome ? | The causes of Moebius syndrome are unknown, although the condition probably results from a combination of environmental and genetic factors. Researchers are working to identify and describe specific genes related to this condition. The disorder appears to be associated with changes in particular regions of chromosomes ... | Moebius syndrome |
Is Moebius syndrome inherited ? | Most cases of Moebius syndrome are sporadic, which means they occur in people with no history of the disorder in their family. A small percentage of all cases have been reported to run in families; however, the condition does not have a single clear pattern of inheritance. | Moebius syndrome |
What are the treatments for Moebius syndrome ? | These resources address the diagnosis or management of Moebius syndrome: - Boston Children's Hospital - Cleveland Clinic - Genetic Testing Registry: Oromandibular-limb hypogenesis spectrum - Swedish Information Centre for Rare Diseases: Diagnosis and Treatment These resources from MedlinePlus offer information ab... | Moebius syndrome |
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