AnatomyDiseasesChemicals and DrugsAnalytical, Diagnostic and Therapeutic Techniques and EquipmentPhenomena and Processes
ProgeriaLamin Type AAutoanalysisAging, PrematureFarnesyltranstransferaseNuclear LaminaSyndromeCell Nucleus ShapeProtein PrecursorsProtein Prenylation
HGPSDefined Werner syndromeSymptoms of progeriaProgeroid syndromeLMNAComplicationsAutosomal recessive disorderOnsetDiseasesCataractsSigns and symptomsMutationDisordersGeneAffectsInsulinGenetic conditionDiseaseTreatmentDisorderChildrenRare conditionConditionMechanismsWebsiteYearsEarlyPeopleHealthNullCellTypesBrain
HGPS2
Defined Werner syndrome1
  • Otto Werner originally defined Werner syndrome (WS) in 1904 on the basis of sclerodermalike, thin, tight skin and bilateral cataracts. (medscape.com)
Symptoms of progeria3
Progeroid syndrome1
LMNA1
Complications3
  • Also see Physical Examination and Complications. (medscape.com)
  • What Are the Complications of Progeria? (icliniq.com)
  • People diagnosed with Hutchinson-Gilford progeria syndrome rarely live beyond 15 years of age, and until now treatments could only target its symptoms and complications. (popsci.com)
Autosomal recessive disorder1
  • Werner syndrome (WS) is an autosomal recessive disorder that affects connective tissue throughout the body. (medscape.com)
Onset1
  • Progeria can also refer to Hutchinson-Gilford syndrome , which is described as a lamin A gene defect and has onset early in life. (medscape.com)
Diseases2
  • Adult progeria is usually diagnosed on the basis of characteristic clinical features and typical concomitant diseases. (medscape.com)
  • Enhancements to NORD's Rare Disease Database and website were made possible through a grant from the Anthem Foundation, the charitable arm of Anthem, Inc.. NORD's Rare Disease Database provides brief introductions for patients and caregivers to specific rare diseases. (celtics.hu)
Cataracts1
  • Hutchinson-Gilford progeria syndrome is a rare disease that, from the first year of life, triggers a degenerative process comparable to accelerated aging, so that those affected usually die in their teens, with bone and heart problems among others, and external signs associated with old age, such as grey hair or baldness, age spots, cataracts, and hearing loss. (bioethicsobservatory.org)
Signs and symptoms1
  • This condition is diagnosed based on the signs and symptoms and physical examination. (icliniq.com)
Mutation3
  • In young adults, mutation in the Werner syndrome (WS) gene is believed to be associated with clinical symptoms typically found in elderly individuals. (medscape.com)
  • Furthermore, the same mutation can also cause different laminopathy syndromes even within the same family. (medscape.com)
  • Progeria is a rare and progressive condition caused by a single genetic mutation. (icliniq.com)
Disorders3
  • WS and several other progeroid syndromes are epigenetically distinct disorders. (medscape.com)
  • 9. Polyglandular autoimmune syndrome: A group of rare autoimmune disorders that affect multiple endocrine glands and lead to hormonal imbalances. (gpnews250.com)
  • 4 They explored various cell types with potentially important roles in neuropsychiatric disorders and were able to pinpoint specific cell types, genes and genetic switches that may contribute to the development of certain traits and disorders, including bipolar disorder, depression and schizophrenia. (nih.gov)
Gene4
  • The Bloom syndrome gene (BLM) encodes a RecQ-like DNA helicase. (lookformedical.com)
  • The data generated from spatial transcriptomics experiments typically consists of gene expression levels associated with specific spatial coordinates. (gatech.edu)
  • InSTAnT was used to discover several novel cell type-specific gene pair co-localizations in the brain, and its promising results demonstrate potential for future research. (gatech.edu)
  • 7 Their comparisons of gene activity at the single-cell level in a specific area of the brain show that humans and other primates have largely the same brain cell types, but genes are activated differently in specific cell types in humans as compared to other primates. (nih.gov)
Affects2
  • 4. Prader-Willi syndrome: A complex genetic disorder that affects various aspects of physical and mental development, including compulsive overeating and obesity. (gpnews250.com)
  • Progeria is an extremely rare condition, as it affects one child in 20 million live births. (icliniq.com)
Insulin1
  • In addition to two novel vaccines released to combat the most deadly pandemic of our time, the world also saw the first-ever drug approved to treat rare progeria, a new insulin formulation that might finally make the life-saving therapy affordable for all, and a malaria vaccine decades in the making. (popsci.com)
Genetic condition2
  • Progeria is a rare genetic condition that produces rapid aging in children. (medlineplus.gov)
  • A WORLD WITHOUT MG . Lily Hall, from Surrey, has Rett syndrome - a rare, life-limiting, genetic condition which has stopped her development in its tracks - meaning she will never be able to walk or talk. (celtics.hu)
Disease6
  • Research in the Bakker Memory Laboratory is focused on understanding the mechanisms and brain n ... etworks underlying human cognition with a specific focus on the mechanisms underlying learning and memory and the changes in memory that occur with aging and disease. (hopkinsmedicine.org)
  • Biomarkers are specific indicators found in blood, tissues, or other biological fluids that can provide information about the presence or progression of a disease. (gpnews250.com)
  • Such a kind of disease was first described in the year 1886 by Jonathan Hutchinson and later by Hastings Gold in the year 1897. (symptoma.com)
  • This disease is therefore also known as the Hutchinson-Gilford progeria syndrome. (symptoma.com)
  • Therefore, if progeria is detected in the child, it is wise to ask the doctor about the treatment plan because of the limited information on this disease. (icliniq.com)
  • We are a 501(c)(3) nonprofit organization that encourages participants from all parts of the country to use physical activity, namely walking and running, to build awareness, educate others, and generate funding to support the rare disease community. (celtics.hu)
Treatment3
Disorder8
  • 1. Hutchinson-Gilford progeria syndrome: This rare genetic disorder causes rapid aging in children, resulting in a variety of health issues. (gpnews250.com)
  • 3. Stiff person syndrome: A neurological disorder characterized by muscle stiffness and spasms that can lead to difficulty moving or walking. (gpnews250.com)
  • 8. Alien hand syndrome: A neurological disorder in which a person's hand shows autonomous, involuntary movements that are sometimes contradictory to their intentions. (gpnews250.com)
  • 10. Cotard's syndrome: Also known as "walking corpse syndrome," this rare psychological disorder causes sufferers to believe that they are dead or do not exist. (gpnews250.com)
  • Progeria is a rare genetic disorder wherein children age rapidly due to genetic defect. (symptoma.com)
  • Progeria is a rare genetic disorder that makes a 2-year-old look like he or she is aging too fast. (icliniq.com)
  • Progeria is a rare genetic disorder that makes a person age prematurely. (icliniq.com)
  • But if one of the children in the family has progeria, the chances of getting this disorder is about two to three percent in the next child. (icliniq.com)
Children2
  • At birth, children with progeria look normal, but within the first two years of their life, they start looking older than is normal for their age. (icliniq.com)
  • 134 children across 46 countries are believed to have progeria. (icliniq.com)
Rare condition3
  • Progeria is a rare condition. (medlineplus.gov)
  • 7. Auto-brewery syndrome: A rare condition in which the body ferments carbohydrates into alcohol, leading to symptoms similar to being intoxicated even without consuming alcoholic beverages. (gpnews250.com)
  • However, as progeria is a very rare condition, the doctor will likely have no experience in treating or diagnosing this condition. (icliniq.com)
Condition1
  • 6. Alice in Wonderland syndrome: A neurological condition characterized by a distorted perception of the body or surrounding objects, often leading to a sense of size distortion and hallucinations. (gpnews250.com)
Mechanisms2
  • This syndrome represents an important model for aging, possibly allowing improved understanding of mechanisms and therapeutics of human aging. (medscape.com)
  • Perhaps there are hundreds of specific cellular and molecular mechanisms that contribute to the intrinsic biology of aging but these can be arranged upon a small number of major theories [6]. (medcraveonline.com)
Website1
  • Find support for a specific problem in the support section of our website. (mdpi.com)
Years2
Early1
People1
  • The findings of this study suggest that the use of Jagged-1 for location-specific bone injury could potentially be developed into a therapy to help people recover from fractures and broken bones. (transhumanist-party.org)
Health1
  • Your health care provider will perform a physical exam and order laboratory tests. (medlineplus.gov)
Null1
  • Re-expression of PLIN5 S155A in the liver of Plin5 liver-specific null mice reduced lipolysis compared with wild-type PLIN5 re-expression, but was not associated with other changes in hepatic lipid metabolism. (uci.edu)
Cell2
  • Beyond this protective role, Mrr can inflict chromosomal DNA damage that elicits the SOS response in the host cell upon heterologous expression of specific methyltransferases such as M.HhaII, or after exposure to high pressure (HP). (uci.edu)
  • Many biological processes, such as tissue development and cell signaling, are regulated in a spatially specific manner. (gatech.edu)
Types1
Brain1
  • Other studies in this collection take a deep dive into more specific brain areas. (nih.gov)