Bloom&’s syndrome
Rare human autosomal recessive defect associated with genomic instability causing short stature, immunodeficiency and increased risk of all types of cancer. Caused by mutation of BLM locus on chromosome 15q. BLM protein has homology to helicases.

Dictionary of molecular biology. 2004.

Look at other dictionaries:

  • Bloom's syndrome — a specific abnormality of chromosome 15 in which the individual suffers from recurrent infections, blistering areas of the hands and lips, and poor growth. Such children have a much higher than normal risk of developing cancer. D. Bloom (20th… …   Medical dictionary

  • Bloom's syndrome — a specific abnormality of chromosome 15 in which the individual suffers from recurrent infections, blistering areas of the hands and lips, and poor growth. Such children have a much higher than normal risk of developing cancer. [D. Bloom (20th… …   The new mediacal dictionary

  • Bloom's syndrome — noun A particular genetic disease; its most apparent symptom is stunted growth …   Wiktionary

  • Werner's syndrome — Rare human genetic disorder characterized by genomic instability and predisposition to cancer. Defect is in protein that has a central domain with homology to helicase and yeast Sgs1 protein but defect does not seem to be due to altered helicase… …   Dictionary of molecular biology

  • Bloom syndrome protein — Bloom syndrome, also known as BLM, is a human gene. PBB Summary section title = summary text = The Bloom syndrome gene product is related to the RecQ subset of DExH box containing DNA helicases and has both DNA stimulated ATPase and ATP dependent …   Wikipedia

  • Syndrome de bloom — Référence MIM 210900 Transmission …   Wikipédia en Français

  • Syndrome de Bloom — Référence MIM 210900 Transmission Récessive Chromosome 15q26.1 Gène BLM Mutation Ponctuelle …   Wikipédia en Français

  • Bloom syndrome — Infobox Disease Name = PAGENAME Caption = DiseasesDB = 1505 ICD10 = ICD9 = ICD9|757.39 ICDO = OMIM = 210900 MedlinePlus = eMedicineSubj = derm eMedicineTopic = 54 MeshID = D001816 Bloom syndrome (BLM) [OMIM|210900] is a rare autosomal recessive… …   Wikipedia

  • syndrome — The aggregate of symptoms and signs associated with any morbid process, and constituting together the picture of the disease. SEE ALSO: disease. [G. s., a running together, tumultuous concourse; (in med.) a concurrence of symptoms, fr. syn,… …   Medical dictionary

  • Syndrome, Werner — A premature aging disease that begins in adolescence or early in adulthood and results in apparent old age by 30 40 years of age. The characteristic features of Werner syndrome include short stature, premature graying and balding, wizened face,… …   Medical dictionary

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