Your browser does not support javascript:   Search for gard hereSearch for news-and-events here.

Diseases

Genetic and Rare Diseases Information Center (GARD)

Behr syndrome


Other Names for this Disease
  • Optic atrophy, infantile hereditary, Behr complicated form of
  • Optic atrophy in early childhood, associated with ataxia, spasticity, mental retardation, and posterior column sensory loss
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

Overview

Behr syndrome is a disorder characterized by early-onset optic atrophy along with neurological features, including ataxiaspasticity, and intellectual disability.[1][2] Other signs and symptoms may be present and vary from person to person. This condition is caused by mutations in the OPA1 gene. It is inherited in an autosomal recessive manner.[1] Treatment depends on the specific signs and symptoms seen in the patient.[2]
Last updated: 6/26/2016

References

  1. Behr Syndrome. Online Mendelian Inheritance in Man (OMIM). April 8, 2016; http://www.omim.org/entry/210000.
  2. Orssaud C. Behr syndrome. Orphanet. March 2005; http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=1239.
GARD Video Tutorials
GARD Video Tutorials
Learn how to find information on treatment, research, specialists, and more.
Contact GARD
Contact GARD
Contact a GARD Information Specialist with your questions about this condition.
On this page

In Depth Information

  • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
  • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Behr syndrome. Click on the link to view a sample search on this topic.
Other Names for this Disease
  • Optic atrophy, infantile hereditary, Behr complicated form of
  • Optic atrophy in early childhood, associated with ataxia, spasticity, mental retardation, and posterior column sensory loss
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.