Bloom Syndrome

Common Name(s)

Bloom Syndrome

Bloom syndrome is a disorder characterized by a significantly increased risk of cancer and various other features. Signs and symptoms include short stature; sun-sensitive skin changes on the face, hands and/or arms; a high-pitched voice; and distinctive facial features including a long, narrow face, small lower jaw, large nose and prominent ears. Some affected individuals may also have learning disabilities; an increased risk of diabetes; chronic obstructive pulmonary disease (COPD); and recurrent infections of the upper respiratory tract, ears, and lungs during infancy. Cancers may include any of those found in the general population, but develop much earlier in life in affected individuals. It is caused by mutations in the BLM gene and is inherited in an autosomal recessive manner. Treatment is generally symptomatic and supportive.
 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Bloom Syndrome" for support, advocacy or research.

Bloom's Syndrome Association, Inc.

The mission of the Association is to foster interactions among its members, so that they might learn from and support one another; to raise funds for research to advance treatments and a cure for Bloom’s syndrome; and to raise public awareness about the syndrome and its importance to worldwide cancer research.

Last Updated: 25 Sep 2015

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Center for Jewish Genetics

The Center is dedicated to gathering and disseminating knowledge about Jewish genetic disorders and hereditary cancers. Its mission is to educate and serve health care professionals, clergy and the Jewish community.

Last Updated: 26 Dec 2012

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General Support Organizations

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How do you compare to others with this condition?

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Bloom Syndrome" for support, advocacy or research.

Bloom's Syndrome Association, Inc.

The mission of the Association is to foster interactions among its members, so that they might learn from and support one another; to raise funds for research to advance treatments and a cure for Bloom’s syndrome; and to raise public awareness about the syndrome and its importance to worldwide cancer research.

http://www.bloomssyndromeassociation.org/

Last Updated: 25 Sep 2015

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Center for Jewish Genetics

The Center is dedicated to gathering and disseminating knowledge about Jewish genetic disorders and hereditary cancers. Its mission is to educate and serve health care professionals, clergy and the Jewish community.

http://www.jewishgenetics.org

Last Updated: 26 Dec 2012

View Details

 

General Support Organizations

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Bloom Syndrome" returned 79 free, full-text research articles on human participants. First 3 results:

Bloom syndrome radials are predominantly non-homologous and are suppressed by phosphorylated BLM.
 

Author(s): Nichole Owen, James Hejna, Scott Rennie, Asia Mitchell, Amy Hanlon Newell, Navid Ziaie, Robb E Moses, Susan B Olson

Journal: Cytogenet. Genome Res.. 2014 ;144(4):255-63.

 

Biallelic mutations in BLM cause Bloom syndrome (BS), a genome instability disorder characterized by growth retardation, sun sensitivity and a predisposition to cancer. As evidence of decreased genome stability, BS cells demonstrate not only elevated levels of spontaneous sister chromatid ...

Last Updated: 21 Apr 2015

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Transcriptomic and Protein Expression Analysis Reveals Clinicopathological Significance of Bloom Syndrome Helicase (BLM) in Breast Cancer.
 

Author(s): Arvind Arora, Tarek M A Abdel-Fatah, Devika Agarwal, Rachel Doherty, Paul M Moseley, Mohammed A Aleskandarany, Andrew R Green, Graham Ball, Alaa T Alshareeda, Emad A Rakha, Stephen Y T Chan, Ian O Ellis, Srinivasan Madhusudan

Journal: Mol. Cancer Ther.. 2015 Apr;14(4):1057-65.

 

Bloom syndrome helicase (BLM) has key roles in homologous recombination repair, telomere maintenance, and DNA replication. Germ-line mutations in the BLM gene causes Bloom syndrome, a rare disorder characterized by premature aging and predisposition to multiple cancers, including ...

Last Updated: 11 Apr 2015

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The X chromosome: does it have a role in Bloom syndrome, a genomic instability disorder?
 

Author(s): Deniz Aslan

Journal: Turk. J. Pediatr.. ;56(3):327-9.

 

The Bloom syndrome, caused by mutations in a single gene [BLM (15q26.1)], is a rare genomic instability syndrome. Despite its autosomal recessive transmission, it shows a male dominance, suggesting the possibility of a subgroup with X-linked recessive inheritance. In view of the latest ...

Last Updated: 24 Oct 2014

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Bloom Syndrome" returned 1 free, full-text review articles on human participants. First 3 results:

Identification and analysis of new proteins involved in the DNA damage response network of Fanconi anemia and Bloom syndrome.
 

Author(s): Rong Guo, Dongyi Xu, Weidong Wang

Journal: Methods. 2009 May;48(1):72-9.

 

The use of co-immunoprecipitation (co-IP) to purify multi-protein complexes has contributed greatly to our understanding of the DNA damage response network associated with Fanconi anemia (FA), Bloom syndrome (BS) and breast cancer. Four new FA genes and two new protein partners for ...

Last Updated: 27 May 2009

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Symptoms, Diagnosis, and Treatment

There are currently no related results available in Genetics Home Reference.

 
 
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Clinical Trial Information This information is provided by ClinicalTrials.gov

There are currently no open clinical trials for this condition.