Hutchinson-Gilford progeria
Hutchinson Gilford


We were unfortunately unable to download the information for this disease from OMIM.

Prevalence of clinical parameters (%)

List of symptoms

Symptom/sign Organ system Percent affected Pubmed id Added on(yyyy-mm-dd)
Alopecia integumentary 100 % 18256394 2011-10-19
Failure to thrive multi 100 % 18256394 2011-10-13
Micrognathia skeletal 100 % 18256394 2012-01-19
Short stature multi 100 % 18256394 2012-01-19
Weight loss multi 100 % 18256394 2014-04-14
Arteriosclerosis circulatory 100 % 11485857 2014-06-04
Skin pigmentation changes integumentary 93 % 18256394 2011-10-13
Scleroderma integumentary 80 % 18256394 2011-10-13
Osteoporosis skeletal 73 % 18256394 2011-10-13
Sleeping with eyes open nervous 73 % 18256394 2014-04-14
Circumoral cyanosis circulatory 60 % 18256394 2014-04-14
Stroke nervous 60 % 23179651 2014-06-04
Prominent scalp veins circulatory 53 % 18256394 2014-04-14
Hypertension circulatory 47 % 18256394 2011-10-13
Contracture skeletal 47 % 18256394 2012-01-19
Xerophthalmus integumentary 33 % 18256394 2011-10-13
Cardiac conduction defect circulatory 33 % 18256394 2011-10-13
Long QT circulatory 33 % 18256394 2014-04-14
Kyphosis skeletal 20 % 18256394 2011-10-13

List of references:

Phenotype and course of Hutchinson-Gilford progeria syndrome.
Melissa A Merideth, Leslie B Gordon, Sarah Clauss, Vandana Sachdev, Ann C M Smith, Monique B Perry, Carmen C Brewer, Christopher Zalewski, H Jeffrey Kim, Beth Solomon, Brian P Brooks, Lynn H Gerber, Maria L Turner, Demetrio L Domingo, Thomas C Hart, Jennifer Graf, James C Reynolds, Andrea Gropman, Jack A Yanovski, Marie Gerhard-Herman, Francis S Collins, Elizabeth G Nabel, Richard O Cannon, William A Gahl, Wendy J Introne,

Hutchinson-Gilford progeria syndrome is a rare, sporadic, autosomal dominant syndrome that involves premature aging, generally leading to death at approximately 13 years of age due to myocardial infarction or stroke. The genetic basis of most cases of this syndrome is a change from glycine GGC to glycine GGT in codon 608 of the lamin A (LMNA) gene, which activates a cryptic splice donor site to produce abnormal lamin A; this disrupts the nuclear membrane and alters transcription.

The New England journal of medicine - Feb 2008

Smooth muscle cell depletion and collagen types in progeric arteries.
W E Stehbens, B Delahunt, T Shozawa, E Gilbert-Barness,

Review of two autopsy cases of progeria confirms severe smooth muscle cell (SMC) depletion in the atherosclerotic aortic media and the presence of collagen types I, III, IV, V, and VI in the aorta and renal vessels as is consistent with atherosclerotic disease.

Cardiovascular pathology : the official journal of the Society for Cardiovascular Pathology -

Imaging characteristics of cerebrovascular arteriopathy and stroke in Hutchinson-Gilford progeria syndrome.
V M Silvera, L B Gordon, D B Orbach, S E Campbell, J T Machan, N J Ullrich,

HGPS is a rare disorder of segmental aging, with early morbidity from cardiovascular and cerebrovascular disease. The goal of this study was to identify the neurovascular features, infarct type, topography, and natural history of stroke in the only neurovascular imaging cohort study of HGPS.

AJNR. American journal of neuroradiology - May 2013