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Diseases

Genetic and Rare Diseases Information Center (GARD)

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Myhre syndrome


Other Names for this Disease

  • Facial dysmorphism - intellectual deficit - short stature - hearing loss
  • Growth mental deficiency syndrome of Myhre
  • LAPS syndrome
  • Laryngotracheal stenosis, arthropathy, prognathism, and short stature
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Cause

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What causes Myhre syndrome?

Myhre syndrome is caused by mutations in the SMAD4 gene. This gene provides instructions for making a protein involved in transmitting chemical signals from the cell surface to the nucleus. This signaling pathway, called the transforming growth factor beta (TGF-β) pathway, allows the environment outside the cell to affect how the cell produces other proteins. As part of this pathway, the SMAD4 protein interacts with other proteins to control the activity of particular genes. These genes influence many areas of development.[1]

Some researchers believe that the SMAD4 gene mutations that cause Myhre syndrome impair the ability of the SMAD4 protein to attach (bind) properly with the other proteins involved in the signaling pathway. Other studies have suggested that these mutations result in an abnormally stable SMAD4 protein that remains active in the cell longer. Changes in SMAD4 binding or availability may result in abnormal signaling in many cell types, which affects development of several body systems and leads to the signs and symptoms of Myhre syndrome.[1]

Last updated: 3/17/2014

References
  1. Myhre syndrome. Genetics Home Reference (GHR). Januray 2013; http://ghr.nlm.nih.gov/condition/myhre-syndrome. Accessed 3/17/2014.


Other Names for this Disease
  • Facial dysmorphism - intellectual deficit - short stature - hearing loss
  • Growth mental deficiency syndrome of Myhre
  • LAPS syndrome
  • Laryngotracheal stenosis, arthropathy, prognathism, and short stature
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.