The Original Ring Of Special Needs Children Justin s story of menkes syndrome and contacts and links to the experts. Justin Gordon and menkes syndrome Join Date January 02, 2003 http://www.ringsurf.com/netring?ring=spneed;id=71;action=next5
Health Library - Diagnosis and therapy of menkes syndrome, a genetic form of copper deficiency . The failure of parenteral copper therapy in Menkes Kinky hair syndrome. http://yalenewhavenhealth.org/library/healthguide/en-us/Cam/topic.asp?hwid=hn-12
304150 CUTIS LAXA, X-LINKED Possibly it is, like menkes syndrome, a disorder of copper metabolism rather than The possibility that the occipital horn syndrome is allelic to Menkes http://srs.sanger.ac.uk/srsbin/cgi-bin/wgetz?[omim-ID:304150] -e
309400 MENKES DISEASE (1993), represent a new variant of menkes syndrome. Phenotypic overlap betweenmenkes syndrome and the occipital horn syndrome (304150) is to be expected http://srs.sanger.ac.uk/srsbin/cgi-bin/wgetz?[omim-ID:309400] -e
McKenzie-Willamette Medical Center - Article.aspx menkes syndrome causes impaired copper absorption. Babies with menkes syndromehave a genetic disorder that causes copper to build up in excess amounts http://www.mckweb.com/apps/HealthGate/Article.aspx?Chunk=22831
GeneCard For ATP7A ATP7A (ATPase, Cu++ transporting, alpha polypeptide (menkes syndrome)) Disease defects in atp7a are associated with menkes syndrome (md) mim309400; http://bioinfo.cnio.es/cgi-bin/genecards/carddisp?ATP7A
Extractions: Meningomyelocele Incomplete closure vertebral column embryogenesis resulting exposure meninges spinal cord;Always associated constellation findings known Chiari II malformation include: small posterior fossa hindbrain herniation upper cervical spinal canal dysgenesis agenesis corpus callosum neuronal migration disorders varying degree hydrocephalus;Chiari II abnormality associated myelomeningocele anencephaly encephalocele belong a group disorders known neural tube defects serious congenital anomalies nervous system occur first 4 weeks gestation result faulty formation neural tube.;Post neurulation defects develop 25 days intrauterine life ie neurulation complete;Lesions include simple meningocele lipomyelomeningocele diastematomyelia myelocystocele neurenteric cyst intraspinal pelvic meningoceles;Characterized intact skin over underlying lesion Surgical removal part a cartilage disk a joint A crescent-shaped pad cartilage joints helps reduce friction Menkes syndrome inborn error metabolism markedly decreases cells` ability absorb copper disorder causes severe cerebral degeneration arterial changes resulting death infancy disease can often diagnosed looking a victim`s hair appears whitish kinked when viewed under a microscope. Menkes` disease transmitted X-linked recessive trait Sufferers can transport copper needed enzymes involved making bone nerve other structures A number other diseases including type IX Ehlers-Danlos syndrome may result allelic mutations (i.e mutations gene slightly different symptoms) hoped research diseases may prove useful fighting Menkes` disease
Extractions: (Homo sapiens) Function may supply copper to copper-requiring proteins within the secretory pathway, when localized in the trans-golgi network. under conditions of elevated extracellular copper, it relocalized to the plasma membrane where it functions in the efflux of copper from cells. Disease defects in atp7a are associated with menkes syndrome (md) [mim:309400]; also known as kinky hair disease. md is an x-linked recessive disease characterized by progressive neurodegeneration and connective-tissue disturbances: focal cerebral and cerebellar degeneration, early retardation in growth, peculiar hair, hipopigmentation, cutis laxa, vascular complications and death in early childhood. it is due to a defect in absorption and transport of copper. Disease defects in atp7a are associated with occipital horn syndrome (ohs) [mim:304150]; also known as x-linked cutis laxa.
Extractions: Causes, incidence, and risk factors: Menkes syndrome is inherited as an X-linked recessive disorder. The disorder is related to deficient levels of copper in the cells. Symptoms include progressive mental deterioration, kinked, twisted and brittle hair, and skeletal changes. Death usually occurs in the first few years of life. About 1 in 300,000 individuals are affected. Signs and tests: There is often a history of Menkes syndrome in a male relative. Signs include slow growth in the womb, abnormally low body temperature, bleeding in the brain and abnormal appearance of the hair under the microscope. Males will have all of their hairs show abnormal structure but females who are carriers of this trait may show only half the hairs to be abnormal. The following tests may help diagnose the condition: X-ray of the skeleton or x-ray of the skull may show abnormal bone appearance (Wormian bones and metaphyseal widening) Serum copper level may be low Copper level in cultured skin cells (fibroblasts) is elevated up to 5 times normal level
Resource Library Find Information On Menkes Syndrome At MerckSource Find information on menkes syndrome at MerckSource. Learn more about Menkessyndrome, menkes syndrome is an inherited disorder that results in problems in http://www.mercksource.com/pp/us/cns/cns_hc_women_content_adam.jspzQzpgzEzzSzppd
Connexion Occipital horn syndrome and a mild Menkes phenotype associated with splice sitemutations Cloning of a candidate gene for menkes syndrome near the MNK http://www.dsi.univ-paris5.fr/genatlas/tbiblio.php?symbol=MNK&corgd=ATP7A
Guildlines For Citing The Genome Database There are two citations for this cell line Kapur, S, menkes syndrome in a girlwith Xautosome translocation. Am J Med Genet, Vol. 26 503-10, 1987. http://gdb.mirror.edu.cn/gdb/cite.html
Extractions: �Diseases, Conditions and Injuries by Michelle Badash, MS Definition Causes Risk Factors ... Organizations Menkes syndrome is an inherited genetic disorder due to an abnormal gene, ATP7A. Menkes syndrome causes impaired copper absorption. This results in arterial changes and deterioration of the brain. Menkes syndrome is rare. It occurs in 1 out of every 50,000-100,000 births. It affects primarily males. Most children born with Menkes syndrome have a life expectancy of 3-5 years. Copper proteins are necessary for the body to build bone, nerves, and other tissue. Babies with Menkes syndrome have a genetic disorder that causes copper to build up in excess amounts in the kidney, while remaining deficient in the liver and brain. This causes changes in the hair, brain, bones, liver, and arteries. A risk factor is something that increases your chances of getting a disease or condition. Risk factors for Menkes syndrome include:
Www.healthfinder.gov/hg/files/?id=22831 menkes syndrome med Family Medicine for the Familymenkes syndrome is an inborn error of metabolism that markedly decreases thecells ability to menkes syndrome Login/Create an account 0 Comments http://www.healthfinder.gov/hg/files/?id=22831
CMAJ -- Please Take Our Questionnaire Menkes syndrome (also known as kinkyhair syndrome) was diagnosed, menkes syndrome is an X-linked recessive genetic disorder of copper metabolism http://www.cmaj.ca/cgi/content/full/166/11/1442
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Karger Publishers menkes syndrome, and Ehler sDanlos syndrome type V (Royce et al., 1980; oxidase activity in skin fibroblasts from patients with Menkes syndrome. http://content.karger.com/ProdukteDB/produkte.asp?Aktion=ShowFulltext&ProduktNr=
