EDAR associated via death domain
עודכן לאחרונה 1 בפברואר 2023
עומד בהנחיות העריכה של Patient
- הורדהורד
- שתף
- Language
- דיון
- גרסת שמע
- הוסף למקורות מועדפים בגוגל
The EDARADD gene provides instructions for making a protein called the EDAR-associated via death domain (EDARADD) protein. This protein is part of a signaling pathway that plays an important role in development before birth. Specifically, it is critical for interactions between two embryonic cell layers called the ectoderm and the mesoderm. In the early embryo, these cell layers form the basis for many of the body's organs and tissues. Ectoderm-mesoderm interactions are essential for the formation of several structures that arise from the ectoderm, including the skin, hair, nails, teeth, and sweat glands.
Normal function
The EDARADD gene provides instructions for making a protein called the EDAR-associated via death domain (EDARADD) protein. This protein is part of a signaling pathway that plays an important role in development before birth. Specifically, it is critical for interactions between two embryonic cell layers called the ectoderm and the mesoderm. In the early embryo, these cell layers form the basis for many of the body's organs and tissues. Ectoderm-mesoderm interactions are essential for the formation of several structures that arise from the ectoderm, including the skin, hair, nails, teeth, and sweat glands.
The EDARADD protein interacts with another protein, called the ectodysplasin A receptor, which is produced from the EDAR gene. This interaction occurs at a region called the death domain that is present in both proteins. The EDARADD protein acts as an adapter, which means it assists the ectodysplasin A receptor in triggering chemical signals within cells. These signals affect cell activities such as division, growth, and maturation. Starting before birth, this signaling pathway controls the formation of ectodermal structures such as hair follicles, sweat glands, and teeth.
Conditions referring to this gene or chromosome
Other names
ectodysplasia A receptor associated death domain
ectodysplasin A receptor associated adapter protein
EDAD_HUMAN
EDAR-associated death domain
Related patient information and medicines
Patient information leaflet
תסמונת אנטיפוספוליפיד
תסמונת אנטיפוספוליפיד is sometimes called Hughes' syndrome. It is a disease that affects the blood and makes it more likely to clot than normal - a thrombophilia. What is antiphospholipid syndrome. Antiphospholipid syndrome (APS) - also called Hughes' syndrome - makes דם more likely than normal to clot (a thrombophilia ). This increases the.
Patient information leaflet
כשל נשימתי
Respiratory failure occurs when the breathing system fails to keep adequate blood oxygen levels. There may also be difficulties in removing waste gases, mainly blood carbon dioxide. Why does respiratory failure occur. Every time we take a breath in we are taking oxygen from the air down to the lungs. This crosses over into the blood and is then.
Patient information leaflet
אובדן שמיעה
Everyone's hearing gets worse as they get older. However, there are many types of hearing loss and not all are restricted to older people. Structure of the ear The ear is roughly divided into three parts. The outer (external) ear includes the part you can see (called the pinna) and the narrow tube-like structure (the ear canal), which your health.
Patient information leaflet
COVID-19
COVID-19 הוא infectious disease caused by a virus that was first identified in December 2019 in Wuhan, China. This leaflet deals with the symptoms, causes and טיפול of COVID-19. What is COVID-19. COVID-19 is an infectious disease caused by a virus (SARS CoV-2). COVID-19 is short for "coronavirus disease 2019", because the disease was first.
Patient information leaflet
האם אני יכול לקחת קווטיאפין וויאגרה יחד?
Diabetes and blood sugar control Qu... If you have diabetes, you must monitor your blood sugar more closely as your medication dose may need adjusting. Dementia in elderly patients There is an increased risk of stroke and death when quetiapine used to treat dementia-related psychosis in elderly patients. Food and drink warnings Alcohol It is best.
Patient information leaflet
תסמונת אוסלר-וובר-רנדו
תסמונת אוסלר-וובר-רנדו is a disorder of the blood vessels that can cause excessive bleeding. Osler-Weber-Rendu syndrome is also called hereditary haemorrhagic telangiectasia. The abnormal blood vessels can cause bleeding both into the skin and inside your body. What is Osler-Weber-Rendu syndrome. People with Osler-Weber-Rendu syndrome can.
קריאה נוספת והפניות
- EDAR associated via death domain; MedlinePlus, National Library of Medicine.
- Chassaing N, Cluzeau C, Bal E, Guigue P, Vincent MC, Viot G, Ginisty D, Munnich A, Smahi A, Calvas P. Mutations in EDARADD account for a small proportion of hypohidrotic ectodermal dysplasia cases. Br J Dermatol. 2010 May;162(5):1044-8. doi: 10.1111/j.1365-2133.2010.09670.x. Epub 2010 Mar 5.
- Chaudhary AK, Girisha KM, Bashyam MD. A novel EDARADD 5'-splice site mutation resulting in activation of two alternate cryptic 5'-splice sites causes autosomal recessive Hypohidrotic Ectodermal Dysplasia. Am J Med Genet A. 2016 Jun;170(6):1639-41. doi: 10.1002/ajmg.a.37607. Epub 2016 Mar 15. No abstract available.
- Cluzeau C, Hadj-Rabia S, Jambou M, Mansour S, Guigue P, Masmoudi S, Bal E, Chassaing N, Vincent MC, Viot G, Clauss F, Maniere MC, Toupenay S, Le Merrer M, Lyonnet S, Cormier-Daire V, Amiel J, Faivre L, de Prost Y, Munnich A, Bonnefont JP, Bodemer C, Smahi A. Only four genes (EDA1, EDAR, EDARADD, and WNT10A) account for 90% of hypohidrotic/anhidrotic ectodermal dysplasia cases. Hum Mutat. 2011 Jan;32(1):70-2. doi: 10.1002/humu.21384.
- Headon DJ, Emmal SA, Ferguson BM, Tucker AS, Justice MJ, Sharpe PT, Zonana J, Overbeek PA. Gene defect in ectodermal dysplasia implicates a death domain adapter in development. Nature. 2001 Dec 20-27;414(6866):913-6. doi: 10.1038/414913a.
- Wohlfart S, Hammersen J, Schneider H. Mutational spectrum in 101 patients with hypohidrotic ectodermal dysplasia and breakpoint mapping in independent cases of rare genomic rearrangements. J Hum Genet. 2016 Oct;61(10):891-897. doi: 10.1038/jhg.2016.75. Epub 2016 Jun 16.
- Wohlfart S, Soder S, Smahi A, Schneider H. A novel missense mutation in the gene EDARADD associated with an unusual phenotype of hypohidrotic ectodermal dysplasia. Am J Med Genet A. 2016 Jan;170A(1):249-53. doi: 10.1002/ajmg.a.37412. Epub 2015 Oct 5.
- Wright JT, Grange DK, Fete M. Hypohidrotic Ectodermal Dysplasia. 2003 Apr 28 [updated 2025 Mar 20]. In: Adam MP, Bick S, Mirzaa GM, Wallace SE, Amemiya A, editors. GeneReviews(R) [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2026. Available from http://www.ncbi.nlm.nih.gov/books/NBK1112/
הצטרפו לשיחה
שתפו את מחשבותיכם או חוויותיכם עם אחרים ב קהילות המטופלים שלנו.
שאלו, שתפו, התחברו.
עיין בדיונים, שאל שאלות ושתף חוויות במאות נושאים בריאותיים.
הירשמו לניוזלטר של פיישנט
המנה השבועית שלך של עצות בריאות ברורות ואמינות - נכתבה כדי לעזור לך להרגיש מעודכן, בטוח ובשליטה.
על ידי הרשמה אתה מקבל את שלנו מדיניות הפרטיות שלנו. באפשרותך לבטל את המנוי בכל עת. לעולם לא נמכור את הנתונים שלך.