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What is (are) congenital stromal corneal dystrophy ? | Congenital stromal corneal dystrophy is an inherited eye disorder. This condition primarily affects the cornea, which is the clear outer covering of the eye. In people with this condition, the cornea appears cloudy and may have an irregular surface. These corneal changes lead to visual impairment, including blurring, g... | congenital stromal corneal dystrophy |
How many people are affected by congenital stromal corneal dystrophy ? | Congenital stromal corneal dystrophy is probably very rare; only a few affected families have been reported in the medical literature. | congenital stromal corneal dystrophy |
What are the genetic changes related to congenital stromal corneal dystrophy ? | Congenital stromal corneal dystrophy is caused by mutations in the DCN gene. This gene provides instructions for making a protein called decorin, which is involved in the organization of collagens. Collagens are proteins that strengthen and support connective tissues such as skin, bone, tendons, and ligaments. In the c... | congenital stromal corneal dystrophy |
Is congenital stromal corneal dystrophy 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. | congenital stromal corneal dystrophy |
What are the treatments for congenital stromal corneal dystrophy ? | These resources address the diagnosis or management of congenital stromal corneal dystrophy: - Gene Review: Gene Review: Congenital Stromal Corneal Dystrophy - Genetic Testing Registry: Congenital Stromal Corneal Dystrophy - MedlinePlus Encyclopedia: Cloudy Cornea These resources from MedlinePlus offer information... | congenital stromal corneal dystrophy |
What is (are) Sheldon-Hall syndrome ? | Sheldon-Hall syndrome, also known as distal arthrogryposis type 2B, is a disorder characterized by joint deformities (contractures) that restrict movement in the hands and feet. The term "arthrogryposis" comes from the Greek words for joint (arthro-) and crooked or hooked (gryposis). "Distal" refers to areas of the bod... | Sheldon-Hall syndrome |
How many people are affected by Sheldon-Hall syndrome ? | The prevalence of Sheldon-Hall syndrome is unknown; however, it is thought to be the most common type of distal arthrogryposis. About 100 affected individuals have been described in the medical literature. | Sheldon-Hall syndrome |
What are the genetic changes related to Sheldon-Hall syndrome ? | Sheldon-Hall syndrome can be caused by mutations in the MYH3, TNNI2, TNNT3, or TPM2 gene. These genes provide instructions for making proteins that are involved in muscle tensing (contraction). Muscle contraction occurs when thick filaments made of proteins called myosins slide past thin filaments made of proteins cal... | Sheldon-Hall syndrome |
Is Sheldon-Hall 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 about 50 percent of cases, an affected person inherits the mutation from one affected parent. Other cases result from new mutations in the gene and occur in people ... | Sheldon-Hall syndrome |
What are the treatments for Sheldon-Hall syndrome ? | These resources address the diagnosis or management of Sheldon-Hall syndrome: - Gillette Children's Hospital - NYU Langone Medical Center These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitat... | Sheldon-Hall syndrome |
What is (are) choroideremia ? | Choroideremia is a condition characterized by progressive vision loss that mainly affects males. The first symptom of this condition is usually an impairment of night vision (night blindness), which can occur in early childhood. A progressive narrowing of the field of vision (tunnel vision) follows, as well as a decrea... | choroideremia |
How many people are affected by choroideremia ? | The prevalence of choroideremia is estimated to be 1 in 50,000 to 100,000 people. However, it is likely that this condition is underdiagnosed because of its similarities to other eye disorders. Choroideremia is thought to account for approximately 4 percent of all blindness. | choroideremia |
What are the genetic changes related to choroideremia ? | Mutations in the CHM gene cause choroideremia. The CHM gene provides instructions for producing the Rab escort protein-1 (REP-1). As an escort protein, REP-1 attaches to molecules called Rab proteins within the cell and directs them to the membranes of various cell compartments (organelles). Rab proteins are involved i... | choroideremia |
Is choroideremia inherited ? | Choroideremia is inherited in an X-linked recessive pattern. The CHM 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 have two X chromosomes), a mutatio... | choroideremia |
What are the treatments for choroideremia ? | These resources address the diagnosis or management of choroideremia: - Gene Review: Gene Review: Choroideremia - Genetic Testing Registry: Choroideremia - MedlinePlus Encyclopedia: Vision - night blindness - MedlinePlus Encyclopedia: Visual field These resources from MedlinePlus offer information about the diagn... | choroideremia |
What is (are) sensorineural deafness and male infertility ? | Sensorineural deafness and male infertility is a condition characterized by hearing loss and an inability to father children. Affected individuals have moderate to severe sensorineural hearing loss, which is caused by abnormalities in the inner ear. The hearing loss is typically diagnosed in early childhood and does no... | sensorineural deafness and male infertility |
How many people are affected by sensorineural deafness and male infertility ? | The prevalence of sensorineural deafness and male infertility is unknown. | sensorineural deafness and male infertility |
What are the genetic changes related to sensorineural deafness and male infertility ? | Sensorineural deafness and male infertility is caused by a deletion of genetic material on the long (q) arm of chromosome 15. The signs and symptoms of sensorineural deafness and male infertility are related to the loss of multiple genes in this region. The size of the deletion varies among affected individuals. Resear... | sensorineural deafness and male infertility |
Is sensorineural deafness and male infertility inherited ? | Sensorineural deafness and male infertility is inherited in an autosomal recessive pattern, which means both copies of chromosome 15 in each cell have a deletion. The parents of an individual with sensorineural deafness and male infertility each carry one copy of the chromosome 15 deletion, but they do not show symptom... | sensorineural deafness and male infertility |
What are the treatments for sensorineural deafness and male infertility ? | These resources address the diagnosis or management of sensorineural deafness and male infertility: - Cleveland Clinic: Male Infertility - Gene Review: Gene Review: CATSPER-Related Male Infertility - Genetic Testing Registry: Deafness, sensorineural, and male infertility - MedlinePlus Health Topic: Assisted Reprodu... | sensorineural deafness and male infertility |
What is (are) congenital generalized lipodystrophy ? | Congenital generalized lipodystrophy (also called Berardinelli-Seip congenital lipodystrophy) is a rare condition characterized by an almost total lack of fatty (adipose) tissue in the body and a very muscular appearance. Adipose tissue is found in many parts of the body, including beneath the skin and surrounding the ... | congenital generalized lipodystrophy |
How many people are affected by congenital generalized lipodystrophy ? | Congenital generalized lipodystrophy has an estimated prevalence of 1 in 10 million people worldwide. Between 300 and 500 people with the condition have been described in the medical literature. Although this condition has been reported in populations around the world, it appears to be more common in certain regions of... | congenital generalized lipodystrophy |
What are the genetic changes related to congenital generalized lipodystrophy ? | Mutations in the AGPAT2, BSCL2, CAV1, and PTRF genes cause congenital generalized lipodystrophy types 1 through 4, respectively. The proteins produced from these genes play important roles in the development and function of adipocytes, which are the fat-storing cells in adipose tissue. Mutations in any of these genes r... | congenital generalized lipodystrophy |
Is congenital generalized lipodystrophy 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 generalized lipodystrophy |
What are the treatments for congenital generalized lipodystrophy ? | These resources address the diagnosis or management of congenital generalized lipodystrophy: - Gene Review: Gene Review: Berardinelli-Seip Congenital Lipodystrophy - Genetic Testing Registry: Berardinelli-Seip congenital lipodystrophy - MedlinePlus Encyclopedia: Hypertrophic Cardiomypathy - University of Texas Sout... | congenital generalized lipodystrophy |
What is (are) achromatopsia ? | Achromatopsia is a condition characterized by a partial or total absence of color vision. People with complete achromatopsia cannot perceive any colors; they see only black, white, and shades of gray. Incomplete achromatopsia is a milder form of the condition that allows some color discrimination. Achromatopsia also i... | achromatopsia |
How many people are affected by achromatopsia ? | Achromatopsia affects an estimated 1 in 30,000 people worldwide. Complete achromatopsia is more common than incomplete achromatopsia. Complete achromatopsia occurs frequently among Pingelapese islanders, who live on one of the Eastern Caroline Islands of Micronesia. Between 4 and 10 percent of people in this populatio... | achromatopsia |
What are the genetic changes related to achromatopsia ? | Achromatopsia results from changes in one of several genes: CNGA3, CNGB3, GNAT2, PDE6C, or PDE6H. A particular CNGB3 gene mutation underlies the condition in Pingelapese islanders. Achromatopsia is a disorder of the retina, which is the light-sensitive tissue at the back of the eye. The retina contains two types of li... | achromatopsia |
Is achromatopsia 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. | achromatopsia |
What are the treatments for achromatopsia ? | These resources address the diagnosis or management of achromatopsia: - Gene Review: Gene Review: Achromatopsia - Genetic Testing Registry: Achromatopsia - MedlinePlus Encyclopedia: Color Vision Test These resources from MedlinePlus offer information about the diagnosis and management of various health conditions:... | achromatopsia |
What is (are) Nager syndrome ? | Nager syndrome is a rare condition that mainly affects the development of the face, hands, and arms. The severity of this disorder varies among affected individuals. Children with Nager syndrome are born with underdeveloped cheek bones (malar hypoplasia) and a very small lower jaw (micrognathia). They often have an op... | Nager syndrome |
How many people are affected by Nager syndrome ? | Nager syndrome is a rare condition, although its prevalence is unknown. More than 75 cases have been reported in the medical literature. | Nager syndrome |
What are the genetic changes related to Nager syndrome ? | The cause of Nager syndrome is unknown. Although the specific genes involved have not been identified, researchers believe that this condition is caused by changes in a particular region of chromosome 9 in some families. Nager syndrome disrupts the development of structures called the first and second pharyngeal arche... | Nager syndrome |
Is Nager syndrome inherited ? | Most cases of Nager syndrome are sporadic, which means that they occur in people with no history of the disorder in their family. Less commonly, this condition has been found to run in families. When the disorder is familial, it can have an autosomal dominant or an autosomal recessive pattern of inheritance. Autosomal... | Nager syndrome |
What are the treatments for Nager syndrome ? | These resources address the diagnosis or management of Nager syndrome: - Genetic Testing Registry: Nager syndrome - University of California San Francisco Medical Center These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Th... | Nager syndrome |
What is (are) distal hereditary motor neuropathy, type V ? | Distal hereditary motor neuropathy, type V is a progressive disorder that affects nerve cells in the spinal cord. It results in muscle weakness and affects movement of the hands and feet. Symptoms of distal hereditary motor neuropathy, type V usually begin during adolescence, but onset varies from infancy to the mid-t... | distal hereditary motor neuropathy, type V |
How many people are affected by distal hereditary motor neuropathy, type V ? | The incidence of distal hereditary motor neuropathy, type V is unknown. Only a small number of cases have been reported. | distal hereditary motor neuropathy, type V |
What are the genetic changes related to distal hereditary motor neuropathy, type V ? | Mutations in the BSCL2 and GARS genes cause distal hereditary motor neuropathy, type V. The BSCL2 gene provides instructions for making a protein called seipin, whose function is unknown. Mutations in the BSCL2 gene likely alter the structure of seipin, causing it to fold into an incorrect 3-dimensional shape. Researc... | distal hereditary motor neuropathy, type V |
Is distal hereditary motor neuropathy, type V 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. Some people who have the altered gene never develop the condition, a situation known as reduced penetrance. | distal hereditary motor neuropathy, type V |
What are the treatments for distal hereditary motor neuropathy, type V ? | These resources address the diagnosis or management of distal hereditary motor neuropathy, type V: - Gene Review: Gene Review: BSCL2-Related Neurologic Disorders/Seipinopathy - Gene Review: Gene Review: GARS-Associated Axonal Neuropathy - Genetic Testing Registry: Distal hereditary motor neuronopathy type 5 - Genet... | distal hereditary motor neuropathy, type V |
What is (are) adult-onset leukoencephalopathy with axonal spheroids and pigmented glia ? | Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia (ALSP) is a neurological condition characterized by changes to certain areas of the brain. A hallmark of ALSP is leukoencephalopathy, which is the alteration of a type of brain tissue called white matter. White matter consists of nerve fibers (axo... | adult-onset leukoencephalopathy with axonal spheroids and pigmented glia |
How many people are affected by adult-onset leukoencephalopathy with axonal spheroids and pigmented glia ? | ALSP is thought to be a rare disorder, although the prevalence is unknown. Because it can be mistaken for other disorders with similar symptoms, ALSP may be underdiagnosed. | adult-onset leukoencephalopathy with axonal spheroids and pigmented glia |
What are the genetic changes related to adult-onset leukoencephalopathy with axonal spheroids and pigmented glia ? | ALSP is caused by mutations in the CSF1R gene. This gene provides instructions for making a protein called colony stimulating factor 1 receptor (CSF-1 receptor), which is found in the outer membrane of certain types of cells, including glial cells. The CSF-1 receptor triggers signaling pathways that control many import... | adult-onset leukoencephalopathy with axonal spheroids and pigmented glia |
Is adult-onset leukoencephalopathy with axonal spheroids and pigmented glia 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 inherits the mutation from one affected parent. Other cases result from new mutations in the gene and occur in people with no histor... | adult-onset leukoencephalopathy with axonal spheroids and pigmented glia |
What are the treatments for adult-onset leukoencephalopathy with axonal spheroids and pigmented glia ? | These resources address the diagnosis or management of ALSP: - Gene Review: Gene Review: Adult-Onset Leukoencephalopathy with Axonal Spheroids and Pigmented Glia - Genetic Testing Registry: Hereditary diffuse leukoencephalopathy with spheroids - MedlinePlus Encyclopedia: Dementia These resources from MedlinePlus o... | adult-onset leukoencephalopathy with axonal spheroids and pigmented glia |
What is (are) lissencephaly with cerebellar hypoplasia ? | Lissencephaly with cerebellar hypoplasia (LCH) affects brain development, resulting in the brain having a smooth appearance (lissencephaly) instead of its normal folds and grooves. In addition, the part of the brain that coordinates movement is unusually small and underdeveloped (cerebellar hypoplasia). Other parts of ... | lissencephaly with cerebellar hypoplasia |
How many people are affected by lissencephaly with cerebellar hypoplasia ? | LCH is a rare condition, although its prevalence is unknown. | lissencephaly with cerebellar hypoplasia |
What are the genetic changes related to lissencephaly with cerebellar hypoplasia ? | LCH can be caused by mutations in the RELN or TUBA1A gene. The RELN gene provides instructions for making a protein called reelin. In the developing brain, reelin turns on (activates) a signaling pathway that triggers nerve cells (neurons) to migrate to their proper locations. The protein produced from the TUBA1A gene ... | lissencephaly with cerebellar hypoplasia |
Is lissencephaly with cerebellar hypoplasia inherited ? | When LCH is caused by mutations in the RELN gene, the 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 sign... | lissencephaly with cerebellar hypoplasia |
What are the treatments for lissencephaly with cerebellar hypoplasia ? | These resources address the diagnosis or management of lissencephaly with cerebellar hypoplasia: - Genetic Testing Registry: Lissencephaly 2 - Genetic Testing Registry: Lissencephaly 3 These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic T... | lissencephaly with cerebellar hypoplasia |
What is (are) lymphedema-distichiasis syndrome ? | Lymphedema-distichiasis syndrome is a condition that affects the normal function of the lymphatic system, which is a part of the circulatory and immune systems. The lymphatic system produces and transports fluids and immune cells throughout the body. People with lymphedema-distichiasis syndrome develop puffiness or swe... | lymphedema-distichiasis syndrome |
How many people are affected by lymphedema-distichiasis syndrome ? | The prevalence of lymphedema-distichiasis syndrome is unknown. Because the extra eyelashes can be overlooked during a medical examination, researchers believe that some people with this condition may be misdiagnosed as having lymphedema only. | lymphedema-distichiasis syndrome |
What are the genetic changes related to lymphedema-distichiasis syndrome ? | Lymphedema-distichiasis syndrome is caused by mutations in the FOXC2 gene. The FOXC2 gene provides instructions for making a protein that plays a critical role in the formation of many organs and tissues before birth. The FOXC2 protein is a transcription factor, which means that it attaches (binds) to specific regions ... | lymphedema-distichiasis syndrome |
Is lymphedema-distichiasis 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. | lymphedema-distichiasis syndrome |
What are the treatments for lymphedema-distichiasis syndrome ? | These resources address the diagnosis or management of lymphedema-distichiasis syndrome: - Gene Review: Gene Review: Lymphedema-Distichiasis Syndrome - Genetic Testing Registry: Distichiasis-lymphedema syndrome - MedlinePlus Encyclopedia: Lymph System These resources from MedlinePlus offer information about the di... | lymphedema-distichiasis syndrome |
What is (are) autosomal recessive spastic ataxia of Charlevoix-Saguenay ? | Autosomal recessive spastic ataxia of Charlevoix-Saguenay, more commonly known as ARSACS, is a condition affecting muscle movement. People with ARSACS typically have abnormal tensing of the muscles (spasticity), difficulty coordinating movements (ataxia), muscle wasting (amyotrophy), involuntary eye movements (nystagmu... | autosomal recessive spastic ataxia of Charlevoix-Saguenay |
How many people are affected by autosomal recessive spastic ataxia of Charlevoix-Saguenay ? | The incidence of ARSACS in the Charlevoix-Saguenay region of Quebec is estimated to be 1 in 1,500 to 2,000 individuals. Outside of Quebec, ARSACS is rare, but the incidence is unknown. | autosomal recessive spastic ataxia of Charlevoix-Saguenay |
What are the genetic changes related to autosomal recessive spastic ataxia of Charlevoix-Saguenay ? | Mutations in the SACS gene cause ARSACS. The SACS gene provides instructions for producing a protein called sacsin. Sacsin is found in the brain, skin cells, muscles used for movement (skeletal muscles), and at low levels in the pancreas, but the specific function of the protein is unknown. Research suggests that sacsi... | autosomal recessive spastic ataxia of Charlevoix-Saguenay |
Is autosomal recessive spastic ataxia of Charlevoix-Saguenay inherited ? | This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. | autosomal recessive spastic ataxia of Charlevoix-Saguenay |
What are the treatments for autosomal recessive spastic ataxia of Charlevoix-Saguenay ? | These resources address the diagnosis or management of ARSACS: - Gene Review: Gene Review: ARSACS - Genetic Testing Registry: Spastic ataxia Charlevoix-Saguenay type These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therap... | autosomal recessive spastic ataxia of Charlevoix-Saguenay |
What is (are) ataxia-telangiectasia ? | Ataxia-telangiectasia is a rare inherited disorder that affects the nervous system, immune system, and other body systems. This disorder is characterized by progressive difficulty with coordinating movements (ataxia) beginning in early childhood, usually before age 5. Affected children typically develop difficulty walk... | ataxia-telangiectasia |
How many people are affected by ataxia-telangiectasia ? | Ataxia-telangiectasia occurs in 1 in 40,000 to 100,000 people worldwide. | ataxia-telangiectasia |
What are the genetic changes related to ataxia-telangiectasia ? | Mutations in the ATM gene cause ataxia-telangiectasia. The ATM gene provides instructions for making a protein that helps control cell division and is involved in DNA repair. This protein plays an important role in the normal development and activity of several body systems, including the nervous system and immune syst... | ataxia-telangiectasia |
Is ataxia-telangiectasia inherited ? | Ataxia-telangiectasia is inherited in an autosomal recessive pattern, which means both copies of the ATM gene in each cell have mutations. Most often, the parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but do not show signs and symptoms of the condition. About 1... | ataxia-telangiectasia |
What are the treatments for ataxia-telangiectasia ? | These resources address the diagnosis or management of ataxia-telangiectasia: - Gene Review: Gene Review: Ataxia-Telangiectasia - Genetic Testing Registry: Ataxia-telangiectasia syndrome - MedlinePlus Encyclopedia: Ataxia-Telangiectasia These resources from MedlinePlus offer information about the diagnosis and man... | ataxia-telangiectasia |
What is (are) Leber congenital amaurosis ? | Leber congenital amaurosis is an eye disorder that primarily affects the retina, which is the specialized tissue at the back of the eye that detects light and color. People with this disorder typically have severe visual impairment beginning in infancy. The visual impairment tends to be stable, although it may worsen v... | Leber congenital amaurosis |
How many people are affected by Leber congenital amaurosis ? | Leber congenital amaurosis occurs in 2 to 3 per 100,000 newborns. It is one of the most common causes of blindness in children. | Leber congenital amaurosis |
What are the genetic changes related to Leber congenital amaurosis ? | Leber congenital amaurosis can result from mutations in at least 14 genes, all of which are necessary for normal vision. These genes play a variety of roles in the development and function of the retina. For example, some of the genes associated with this disorder are necessary for the normal development of light-detec... | Leber congenital amaurosis |
Is Leber congenital amaurosis inherited ? | Leber congenital amaurosis usually has an autosomal recessive pattern of inheritance. Autosomal recessive inheritance 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 sign... | Leber congenital amaurosis |
What are the treatments for Leber congenital amaurosis ? | These resources address the diagnosis or management of Leber congenital amaurosis: - Gene Review: Gene Review: Leber Congenital Amaurosis - Genetic Testing Registry: Leber congenital amaurosis 1 - Genetic Testing Registry: Leber congenital amaurosis 10 - Genetic Testing Registry: Leber congenital amaurosis 12 - Ge... | Leber congenital amaurosis |
What is (are) tibial muscular dystrophy ? | Tibial muscular dystrophy is a condition that affects the muscles at the front of the lower leg. The signs and symptoms of this condition typically appear after age 35. The first sign is usually weakness and wasting (atrophy) of a muscle in the lower leg called the tibialis anterior. This muscle helps control up-and-do... | tibial muscular dystrophy |
How many people are affected by tibial muscular dystrophy ? | Tibial muscular dystrophy is most common in Finland, where it is estimated to affect at least 10 per 100,000 people. This condition has also been found in people of Finnish descent living in other countries. Additionally, tibial muscular dystrophy has been identified in several European families without Finnish ancest... | tibial muscular dystrophy |
What are the genetic changes related to tibial muscular dystrophy ? | Mutations in the TTN gene cause tibial muscular dystrophy. This gene provides instructions for making a protein called titin. Titin plays an important role in muscles the body uses for movement (skeletal muscles) and in heart (cardiac) muscle. Within muscle cells, titin is an essential component of structures called s... | tibial muscular dystrophy |
Is tibial muscular dystrophy 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. | tibial muscular dystrophy |
What are the treatments for tibial muscular dystrophy ? | These resources address the diagnosis or management of tibial muscular dystrophy: - Gene Review: Gene Review: Udd Distal Myopathy - Genetic Testing Registry: Distal myopathy Markesbery-Griggs type These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - ... | tibial muscular dystrophy |
What is (are) pseudohypoaldosteronism type 1 ? | Pseudohypoaldosteronism type 1 (PHA1) is a condition characterized by problems regulating the amount of sodium in the body. Sodium regulation, which is important for blood pressure and fluid balance, primarily occurs in the kidneys. However, sodium can also be removed from the body through other tissues, such as the sw... | pseudohypoaldosteronism type 1 |
How many people are affected by pseudohypoaldosteronism type 1 ? | PHA1 is a rare condition that has been estimated to affect 1 in 80,000 newborns. | pseudohypoaldosteronism type 1 |
What are the genetic changes related to pseudohypoaldosteronism type 1 ? | Mutations in one of four different genes involved in sodium regulation cause autosomal dominant or autosomal recessive PHA1. Mutations in the NR3C2 gene cause autosomal dominant PHA1. This gene provides instructions for making the mineralocorticoid receptor protein. Mutations in the SCNN1A, SCNN1B, or SCNN1G genes caus... | pseudohypoaldosteronism type 1 |
Is pseudohypoaldosteronism type 1 inherited ? | PHA1 can have different inheritance patterns. When the condition is caused by mutations in the NR3C2 gene, 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. When PHA1 is caused by mutations in the SCNN1A, SCNN1B, or SCNN1G genes,... | pseudohypoaldosteronism type 1 |
What are the treatments for pseudohypoaldosteronism type 1 ? | These resources address the diagnosis or management of pseudohypoaldosteronism type 1: - Genetic Testing Registry: Pseudohypoaldosteronism type 1 autosomal dominant - Genetic Testing Registry: Pseudohypoaldosteronism type 1 autosomal recessive - MedlinePlus Encyclopedia: Hyponatremia - University of Maryland Medica... | pseudohypoaldosteronism type 1 |
What is (are) autosomal recessive congenital stationary night blindness ? | Autosomal recessive congenital stationary night blindness is a disorder of the retina, which is the specialized tissue at the back of the eye that detects light and color. People with this condition typically have difficulty seeing and distinguishing objects in low light (night blindness). For example, they may not be ... | autosomal recessive congenital stationary night blindness |
How many people are affected by autosomal recessive congenital stationary night blindness ? | Autosomal recessive congenital stationary night blindness is likely a rare disease; however, its prevalence is unknown. | autosomal recessive congenital stationary night blindness |
What are the genetic changes related to autosomal recessive congenital stationary night blindness ? | Mutations in several genes can cause autosomal recessive congenital stationary night blindness. Each of these genes provide instructions for making proteins that are found in the retina. These proteins are involved in sending (transmitting) visual signals from cells called rods, which are specialized for vision in low ... | autosomal recessive congenital stationary night blindness |
Is autosomal recessive congenital stationary night blindness inherited ? | This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. | autosomal recessive congenital stationary night blindness |
What are the treatments for autosomal recessive congenital stationary night blindness ? | These resources address the diagnosis or management of autosomal recessive congenital stationary night blindness: - Genetic Testing Registry: Congenital stationary night blindness, type 1B - Genetic Testing Registry: Congenital stationary night blindness, type 1C - Genetic Testing Registry: Congenital stationary nig... | autosomal recessive congenital stationary night blindness |
What is (are) craniometaphyseal dysplasia ? | Craniometaphyseal dysplasia is a rare condition characterized by progressive thickening of bones in the skull (cranium) and abnormalities at the ends of long bones in the limbs (metaphyseal dysplasia). Except in the most severe cases, the lifespan of people with craniometaphyseal dysplasia is normal. Bone overgrowth i... | craniometaphyseal dysplasia |
How many people are affected by craniometaphyseal dysplasia ? | Craniometaphyseal dysplasia is a very rare disorder; its incidence is unknown. | craniometaphyseal dysplasia |
What are the genetic changes related to craniometaphyseal dysplasia ? | Mutations in the ANKH gene cause autosomal dominant craniometaphyseal dysplasia. The ANKH gene provides instructions for making a protein that is present in bone and transports a molecule called pyrophosphate out of cells. Pyrophosphate helps regulate bone formation by preventing mineralization, the process by which mi... | craniometaphyseal dysplasia |
Is craniometaphyseal dysplasia inherited ? | Craniometaphyseal dysplasia can have different inheritance patterns. In most cases this condition is inherited in an autosomal dominant pattern, which means one altered copy of the ANKH gene in each cell is sufficient to cause the disorder. Individuals with autosomal dominant craniometaphyseal dysplasia typically have ... | craniometaphyseal dysplasia |
What are the treatments for craniometaphyseal dysplasia ? | These resources address the diagnosis or management of craniometaphyseal dysplasia: - Gene Review: Gene Review: Craniometaphyseal Dysplasia, Autosomal Dominant - Genetic Testing Registry: Craniometaphyseal dysplasia, autosomal dominant - Genetic Testing Registry: Craniometaphyseal dysplasia, autosomal recessive type... | craniometaphyseal dysplasia |
What is (are) atelosteogenesis type 3 ? | Atelosteogenesis type 3 is a disorder that affects the development of bones throughout the body. Affected individuals are born with inward- and upward-turning feet (clubfeet) and dislocations of the hips, knees, and elbows. Bones in the spine, rib cage, pelvis, and limbs may be underdeveloped or in some cases absent. A... | atelosteogenesis type 3 |
How many people are affected by atelosteogenesis type 3 ? | Atelosteogenesis type 3 is a rare disorder; its exact prevalence is unknown. About two dozen affected individuals have been identified. | atelosteogenesis type 3 |
What are the genetic changes related to atelosteogenesis type 3 ? | Mutations in the FLNB gene cause atelosteogenesis type 3. The FLNB gene provides instructions for making a protein called filamin B. This protein helps build the network of protein filaments (cytoskeleton) that gives structure to cells and allows them to change shape and move. Filamin B attaches (binds) to another prot... | atelosteogenesis type 3 |
Is atelosteogenesis type 3 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. Most cases result from new mutations in the gene and occur in people with no history of the disorder in their family. | atelosteogenesis type 3 |
What are the treatments for atelosteogenesis type 3 ? | These resources address the diagnosis or management of atelosteogenesis type 3: - Gene Review: Gene Review: FLNB-Related Disorders - Genetic Testing Registry: Atelosteogenesis type 3 These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tes... | atelosteogenesis type 3 |
What is (are) hereditary sensory and autonomic neuropathy type V ? | Hereditary sensory and autonomic neuropathy type V (HSAN5) is a condition that primarily affects the sensory nerve cells (sensory neurons), which transmit information about sensations such as pain, temperature, and touch. These sensations are impaired in people with HSAN5. The signs and symptoms of HSAN5 appear early,... | hereditary sensory and autonomic neuropathy type V |
How many people are affected by hereditary sensory and autonomic neuropathy type V ? | HSAN5 is very rare. Only a few people with the condition have been identified. | hereditary sensory and autonomic neuropathy type V |
What are the genetic changes related to hereditary sensory and autonomic neuropathy type V ? | Mutations in the NGF gene cause HSAN5. The NGF gene provides instructions for making a protein called nerve growth factor beta (NGF) that is important in the development and survival of nerve cells (neurons), including sensory neurons. The NGF protein functions by attaching (binding) to its receptors, which are found o... | hereditary sensory and autonomic neuropathy type V |
Is hereditary sensory and autonomic neuropathy 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. | hereditary sensory and autonomic neuropathy type V |
What are the treatments for hereditary sensory and autonomic neuropathy type V ? | These resources address the diagnosis or management of HSAN5: - Genetic Testing Registry: Congenital sensory neuropathy with selective loss of small myelinated fibers These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therap... | hereditary sensory and autonomic neuropathy type V |
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