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 affected gene, known as lamin A (LMNA), makes a protein necessary for holding the cell nucleus 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 cause individuals to age faster than usual, leading to them appearing older than they actually are. People born with progeria typically live until their mid- to late-teens or 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
20.06.2018 – 22:41 CEST