Human HOXA1 Syndromes

National Organization for Rare Disorders, Inc.

Important
It is possible that the main title of the report Human HOXA1 Syndromes is not the name you expected. Please check the synonyms listing to find the alternate name(s) and disorder subdivision(s) covered by this report.

Synonyms

  • Athabaskan Brainstem Dysgenesis Syndrome (ABDS)
  • Bosley-Salih-Alorainy Syndrome (BSAS)
  • Navaho Brainstem Syndrome

Disorder Subdivisions

  • None

General Discussion

Human HOXA1 syndromes are very rare disorders with complex neurological and systemic symptoms, and complex geographical distribution in the United States and worldwide. These syndromes are found among a few American Indian tribes such as the Navaho and Apaches, who are related to Athabaskan Indians of northern Canada.

Recently, a very similar disease was recognized among groups of four related Saudi Arabian families and one Turkish family . Various names have been applied (see the synonyms above), but the name human HOXA1 syndromes is used here because it is not linked to a specific geographic location.

In each of the clusters of cases, the identity of the disorder was determined by genetic studies of the parents and affected children. Apparently, each affected child acquires a copy of the same mutated gene from each of the parents (homozygosity). The abnormal gene has been identified and its location on chromosome 7 has been determined.

Resources

Genetic and Rare Diseases (GARD) Information Center
PO Box 8126
Gaithersburg, MD 20898-8126
Tel: (301)251-4925
Fax: (301)251-4911
Tel: (888)205-2311
TDD: (888)205-3223
Email: ordr@od.nih.gov
Internet: http://rarediseases.info.nih.gov/Default.aspx

For a Complete Report

For a Complete Report

This is an abstract of a report from the National Organization for Rare Disorders, Inc. ® (NORD). A copy of the complete report can be obtained for a small fee by visiting the NORD website. The complete report contains additional information including symptoms, causes, affected population, related disorders, standard and investigational treatments (if available), and references from medical literature. For a full-text version of this topic, see http://www.rarediseases.org/search/rdblist.html

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