Bloom Syndrome

An autosomal recessive disorder characterized by telangiectatic ERYTHEMA of the face, photosensitivity, DWARFISM and other abnormalities, and a predisposition toward developing cancer. The Bloom syndrome gene (BLM) encodes a RecQ-like DNA helicase.

Year introduced: 1982

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Tree Number(s): C16.131.077.137, C16.320.798.313, C18.452.284.100, C20.673.795.313

MeSH Unique ID: D001816

Entry Terms:

• Bloom-Torre-Machacek Syndrome
• Bloom Torre Machacek Syndrome
• Bloom's Syndrome
• Bloom's Syndromes
• Congenital Telangiectatic Erythema
• Congenital Telangiectatic Erythemas
• Erythema, Congenital Telangiectatic
• Telangiectatic Erythema, Congenital

Previous Indexing:

• Abnormalities, Multiple (1968-1981)
• Dwarfism (1966-1981)
• Facial Dermatoses (1966-1981)
• Telangiectasis (1966-1981)

All MeSH Categories
Diseases Category
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
Congenital Abnormalities
Abnormalities, Multiple
Bloom Syndrome

All MeSH Categories
Diseases Category
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
Genetic Diseases, Inborn
Primary Immunodeficiency Diseases
Bloom Syndrome

All MeSH Categories
Diseases Category
Nutritional and Metabolic Diseases
Metabolic Diseases
DNA Repair-Deficiency Disorders
Bloom Syndrome

All MeSH Categories
Diseases Category
Immune System Diseases
Immunologic Deficiency Syndromes
Primary Immunodeficiency Diseases
Bloom Syndrome