Problem
Progeria
Nature:
Progeria is a specific type of progeroid syndrome, also known as Hutchinson–Gilford syndrome or Hutchinson–Gilford progeroid syndrome (HGPS). A single gene mutation is responsible for causing progeria. The gene, known as lamin A (LMNA), makes a protein necessary for holding the nucleus of the cell together. When this gene gets mutated, an abnormal form of lamin A protein called progerin is produced. Progeroid syndromes are a group of diseases that causes individuals to age faster than usual, leading to them appearing older than they actually are. Patients born with progeria typically live to an age of mid-teens to early twenties.
Severe cardiovascular complications usually develop by puberty, later on resulting in death.
Related Problems:
Cockayne's syndrome Organizations:
International Progeria Registry Problem Type:
G: Very specific problems Date of last update
04.10.2020 – 22:48 CEST