This website provides information on patients with pathogenic variants in the ODC1 gene, including clinical data, molecular data, management, and research options.

The syndrome caused by pathogenic variants in the ornithine decarboxylase 1 (ODC1) gene (Bachmann-Bupp syndrome or BABS, OMIM # 619075) is a neurodevelopmental disorder characterized by a distinctive type of alopecia where hair is typically present at birth, but may be sparse and of an unexpected color with subsequent loss of hair in large clumps within the first few weeks of life, global developmental delay ranging from moderate to severe, hypotonia, nonspecific dysmorphic features, behavioral abnormalities (autism spectrum disorder, attention-deficit/hyperactivity disorder), and feeding difficulties. Rare findings include seizures with onset in later childhood and conductive hearing loss. Not all individuals with a pathogenic variant in the ODC1 gene have these features.

This website was created to share and collect information about clinic, management, and research projects to gather more knowledge and provide better treatment of patients with pathogenic variants in the ODC1 gene. The International Center for Polyamine Disorders (ICPD) at Corewell Health and Michigan State University was established in 2020 in order to facilitate research on polyaminopathies and polyamine-associated conditions and to develop strategies for treatment and prevention.  The ICPD includes a polyaminopathy biobank for patients and their family members, translational research lab core at Michigan State University, and a clinical genetics team at Corewell Health West and Helen DeVos Children’s Hospital.

Caleb Bupp, MD, FACMG, Corewell Health West & Helen DeVos Children’s Hospital, Grand Rapids, MI, USA, caleb.bupp@corewellhealth.org

André S. Bachmann, PhD, Michigan State University, Grand Rapids, MI, USA, bachma26@msu.edu

Useful Links

Terms & Conditions

Read More

Search Gene sites

Read More

Publications & News

Read More