Bloom syndrome

Bloom syndrome is an inherited disorder characterized by short stature, a skin rash that develops after exposure to the sun, and a greatly increased risk of cancer. People with Bloom syndrome are usually smaller than 97 percent of the population ...1

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Symptoms of Bloom syndrome

Symptoms: The Human Phenotype Ontology (HPO) provides the following list of features that have been reported in people with this condition. Much of the information in the HPO comes from Orphanet, a European rare disease database. Signs and Symptoms

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Complications of Bloom syndrome

In the two helicase deficiencies discussed, Bloom's and Werner's syndromes, patients have an increased cancer predisposition but no neurologic disease is evident. ...Source: NINDS (NIH)2 ...

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Diagnosis of Bloom syndrome

Diagnosis: Bloom syndrome is diagnosed by either cytogenetic analysis or mutation testing. Cytogenetic analysis is used to detect if there is an increased amount of sister chromatid exchange in cells. Genetic testing can reveal if a person has mutations in ...3

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Genetics of Bloom syndrome

Genetic Changes: Mutations in the BLM gene cause Bloom syndrome . The BLM gene provides instructions for making a member of a protein family called RecQ helicases. Helicases are enzymes that attach (bind) to DNA and unwind the two spiral strands ...4

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Treatments: Bloom syndrome

Treatment: There is currently no cure for Bloom syndrome, so treatment is generally symptomatic and supportive. Because affected individuals are hypersensitive to DNA-damaging chemicals and ionizing radiation, standard cancer treatment plans often need to be adjusted for affected individuals ...5

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Names and Terminology

Other Names for This Condition

Source: GHR (NLM/NIH)6 ...

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References

  1. Source: GHR (NLM/NIH): ghr.nlm.nih.gov/ condition/ bloom-syndrome
  2. Source: NINDS (NIH): ninds.nih.gov/ news_and_events/ proceedings/ dna_meeting_2001.htm
  3. Source: GARD (NIH): rarediseases.info.nih.gov/ diseases/ 915/ bloom-syndrome
  4. Source: GHR (NLM/NIH): ghr.nlm.nih.gov/ condition/ bloom-syndrome
  5. Source: GARD (NIH): rarediseases.info.nih.gov/ diseases/ 915/ bloom-syndrome
  6. Source: GHR (NLM/NIH): ghr.nlm.nih.gov/ condition/ bloom-syndrome

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Note: This site is for informational purposes only and is not medical advice. See your doctor or other qualified medical professional for all your medical needs.