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.

Also Known As:

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

Congenital, Hereditary, and Neonatal Diseases and Abnormalities: 960
- Congenital Abnormalities: 26404
  - Multiple Abnormalities: 213
    - Bloom Syndrome: 535
- Inborn Genetic Diseases: 12342
  - Primary Immunodeficiency Diseases: 1211
    - Bloom Syndrome: 535
Nutritional and Metabolic Diseases: 15
- Metabolic Diseases: 10634
  - DNA Repair-Deficiency Disorders: 544
    - Bloom Syndrome: 535
Immune System Diseases: 4430
- Immunologic Deficiency Syndromes: 91
  - Primary Immunodeficiency Diseases: 1211
    - Bloom Syndrome: 535

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Disease

Drug/Important Bio-Agent (IBA)