Disease

Ghosal hematodiaphyseal dysplasia1, 2, 3

Gene

TBXAS1

Inheritance AR
Current Treatments NSAIDs, corticosteroids, tocilizumab
Evidence for Treatment Expert opinion
Non-Molecular Testing Availability Yes
Non-Molecular Test IL-6 level after 3 weeks of age3
Genes Included in Disease Frequency TBXAS1
Experimental / Investigational Therapies https://clinicaltrials.gov/search?cond=tbxas1&viewType=Card
Last Updated: July 29, 2026
RX Genes
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