Progeria

An abnormal congenital condition, associated with defects in the LAMIN TYPE A gene, which is characterized by premature aging in children, where all the changes of cell senescence occur. It is manifested by premature graying; hair loss; hearing loss (DEAFNESS); cataracts (CATARACT); ARTHRITIS; OSTEOPOROSIS; DIABETES MELLITUS; atrophy of subcutaneous fat; skeletal hypoplasia; elevated urinary HYALURONIC ACID; and accelerated ATHEROSCLEROSIS. Many affected individuals develop malignant tumors, especially SARCOMA.

Also Known As:

Hutchinson Gilford Syndrome; Hutchinson Gilford Progeria Syndrome; Hutchinson-Gilford Progeria Syndrome; Hutchinson-Gilford Progeria Syndromes; Progeria Syndrome, Hutchinson-Gilford; Progeria Syndromes, Hutchinson-Gilford; Hutchinson-Gilford Syndrome

Congenital, Hereditary, and Neonatal Diseases and Abnormalities: 933
- Inborn Genetic Diseases: 11939
  - Inborn Errors Metabolism: 1162
    - Progeria: 747
  - Laminopathies: 484
    - Progeria: 747
Nutritional and Metabolic Diseases: 15
- Metabolic Diseases: 10142
  - Inborn Errors Metabolism: 1162
    - Progeria: 747

Aizenbud D Dror Selected Research

Aizenbud D Dror Research Topics

Disease

Therapy/Procedure