progeria
Sign in to saveProgeria (also Hutchinson–Gilford syndrome or Hutchinson–Gilford progeroid syndrome; HGPS) is a type of progeroid syndrome. 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 mutates, 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. People born with progeria typically live until their mid- to late-teens or early twenties. Severe cardiovascular complication
AI overview
Progeria is a rare genetic disorder caused by a mutation in the lamin A gene, which produces an abnormal protein that disrupts the structure of cell nuclei and causes rapid aging in the body. People born with this condition age much faster than normal and typically live only into their late teens or early twenties, often due to severe heart complications.
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Key facts
- Medical condition (new).name
- Progeria
- Medical condition (new).image
- Hutchinson-Gilford Progeria Syndrome.png
- Medical condition (new).caption
- A young girl with progeria (left). A healthy cell nucleus (right, top) and a progeric cell nucleus (right, bottom).
- Medical condition (new).synonyms
- Hutchinson–Gilford progeria syndrome (HGPS), progeria syndrome, Joseph syndrome
- Medical condition (new).field
- Medical genetics
- Medical condition (new).symptoms
- Growth delay, short height, small face, hair loss
- Medical condition (new).complications
- Heart disease, stroke, hip dislocations
- Medical condition (new).onset
- 9–24 months
- Medical condition (new).causes
- Genetic
- Medical condition (new).diagnosis
- Based on symptoms, genetic tests
- Medical condition (new).differential
Article
21 sectionsContents
- Signs and symptoms
- Pathophysiology
- Lamin A
- Mitochondria
- Diagnosis
- Differential diagnosis
- Treatment
- Prognosis
- Epidemiology
- Research
- Mouse model
- DNA repair
- Epigenetic clock analysis of human HGPS
- History
- Etymology
- Society and culture
- Notable cases
- Fiction
- See also
- References
- Sources
Progeria (also Hutchinson–Gilford syndrome or Hutchinson–Gilford progeroid syndrome; HGPS) is a type of progeroid syndrome. 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 mutates, 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. 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.
==Signs and symptoms== thumb|Progeria in a 19-year-old male (left), compared to male of the same age without progeria (right) Most children with progeria appear normal at birth and during early infancy. Children with progeria usually develop the first symptoms during their first few months of life. The earliest symptoms may include a failure to thrive and a localized scleroderma-like skin condition. As a child ages past infancy, additional conditions become apparent, usually around 18–24 months. Limited growth, full-body alopecia (hair loss), and a distinctive appearance (a small face with a shallow, recessed jaw and a pinched nose) are all characteristics of progeria.