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: 933
- Congenital Abnormalities: 25723
  - Multiple Abnormalities: 211
    - Bloom Syndrome: 534
- Inborn Genetic Diseases: 11939
  - Primary Immunodeficiency Diseases: 1189
    - Bloom Syndrome: 534
Nutritional and Metabolic Diseases: 15
- Metabolic Diseases: 10142
  - DNA Repair-Deficiency Disorders: 538
    - Bloom Syndrome: 534
Immune System Diseases: 4321
- Immunologic Deficiency Syndromes: 91
  - Primary Immunodeficiency Diseases: 1189
    - Bloom Syndrome: 534

S S Kharat Selected Research

S S Kharat Research Topics

Disease

Drug/Important Bio-Agent (IBA)