Bloom Syndrome (BLM)

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Disease Ontology 12 DOID:2717 OMIM 56 210900 OMIM Phenotypic Series 56 PS210900 KEGG 36 H01346 MeSH 43 D001816 NCIt 49 C2903 SNOMED-CT 67 4434006

MESH via Orphanet 44 D001816 ICD10 via Orphanet 33 Q82.2 UMLS via Orphanet 72 C0005859 Orphanet 58 ORPHA125 MedGen 41 C0005859 SNOMED-CT via HPO 68 115244002 118600007 12295008 123785006 123983008 126768004 129154003 161857006 188676008 190981001 199612005 201281002 20255002 204878001 21964009 22033007 237836003 238810007 24072005 247441003 249310005 249311009 249729002 249769001 258211005 267060006 268251006 269475001 271607001 271611007 271811009 275478007 28899001 29260007 29966009 311897005 312230002 34048007 364538006 36971009 373413006 402815007 413839001 415690000 415691001 425558002 44054006 444827008 48188009 51089004 51406002 52613005 62315008 70819003 72239002 7393007 81793007 86735004 86765009 87163000 90128006 91855006 93143009 more UMLS 71 C0005859

Genetics Home Reference : ²⁵ 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 in both height and weight from birth, and they rarely exceed 5 feet tall in adulthood. Affected individuals have skin that is sensitive to sun exposure, and they usually develop a butterfly-shaped patch of reddened skin across the nose and cheeks. A skin rash can also appear on other areas that are typically exposed to the sun, such as the back of the hands and the forearms. Small clusters of enlarged blood vessels (telangiectases) often appear in the rash; telangiectases can also occur in the eyes. Other skin features include patches of skin that are lighter or darker than the surrounding areas (hypopigmentation or hyperpigmentation respectively). These patches appear on areas of the skin that are not exposed to the sun, and their development is not related to the rashes. People with Bloom syndrome have an increased risk of cancer. They can develop any type of cancer, but the cancers arise earlier in life than they do in the general population, and affected individuals often develop more than one type of cancer. Individuals with Bloom syndrome have a high-pitched voice and distinctive facial features including a long, narrow face; a small lower jaw; and prominent nose and ears. Other features can include learning disabilities, an increased risk of diabetes, chronic obstructive pulmonary disease (COPD), and mild immune system abnormalities leading to recurrent infections of the upper respiratory tract, ears, and lungs during infancy. Men with Bloom syndrome usually do not produce sperm and as a result are unable to father children (infertile). Women with the disorder generally have reduced fertility and experience menopause at an earlier age than usual.

MalaCards based summary : Bloom Syndrome, also known as bloom-torre-machacek syndrome, is related to adermatoglyphia and pelvic lipomatosis. An important gene associated with Bloom Syndrome is BLM (BLM RecQ Like Helicase), and among its related pathways/superpathways are Homologous recombination and Fanconi anemia pathway. The drug Cola has been mentioned in the context of this disorder. Affiliated tissues include skin, lung and breast, and related phenotypes are malar flattening and delayed skeletal maturation

Disease Ontology : ¹² An autosomal recessive disease characterized by sun sensitivity, short stature, predisposition to the development of cancer and genomic instability.

NIH Rare Diseases : ⁵² 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.

OMIM : ⁵⁶ Bloom syndrome is an autosomal recessive disorder characterized by proportionate pre- and postnatal growth deficiency; sun-sensitive, telangiectatic, hypo- and hyperpigmented skin; predisposition to malignancy; and chromosomal instability. (210900)

KEGG : ³⁶ Bloom syndrome is a rare autosomal recessive genetic disorder due to mutation in BLM (RecQ protein-like 3). This disease is characterized by dwarfism, photosensitivity, immunodeficiency and a high predisposition to various types of cancer. The function of BLM as a helicase and its role during the regulation of homologous recombination (HR) is well characterized. Recently, the role of BLM as a DNA damage sensor has been revealed.

UniProtKB/Swiss-Prot : ⁷³ Bloom syndrome: An autosomal recessive disorder. It is characterized by proportionate pre- and postnatal growth deficiency, sun-sensitive telangiectatic hypo- and hyperpigmented skin, predisposition to malignancy, and chromosomal instability.

Wikipedia : ⁷⁴ Bloom syndrome (often abbreviated as BS in literature), is a rare autosomal recessive disorder... more...

GeneReviews: NBK1398

Clinical features from OMIM:

210900

#	Description	GenomeRNAi Source Accession	Score	Top Affiliating Genes
1	Increased viability with MLN4924 (a NAE inhibitor)	GR00250-A-3	10.06	ATM BLM BRCA1 BRCA2 FANCM FEN1
2	Decreased homologous recombination repair frequency	GR00151-A-1	9.97	BRCA1 RAD51 RECQL4
3	Decreased homologous recombination repair frequency	GR00151-A-2	9.97	BRCA1 RAD51 RECQL4
4	Decreased homologous recombination repair frequency	GR00236-A-3	9.97	BRCA1 RAD51
5	Synthetic lethal with MLN4924 (a NAE inhibitor)	GR00250-A-1	9.89	ATM BLM BRCA1 BRCA2 FANCM FEN1
6	Synthetic lethal with MLN4924 (a NAE inhibitor)	GR00250-A-2	9.89	ATM BLM BRCA1 BRCA2 FANCM FEN1
7	Decreased viability after ionizing radiation	GR00232-A-2	9.5	ATM BRCA1 BRCA2
8	Decreased viability with cisplatin	GR00101-A-4	9.43	BRCA1 BRCA2 RAD51
9	Synthetic lethal with cisplatin	GR00101-A-1	9.13	BRCA1 BRCA2 RAD51

Search NIH Clinical Center for Bloom Syndrome

Search GEO for disease gene expression data for Bloom Syndrome.