Acrodysostosis 1 with or without hormone resistance

MONDO:0007044

An autosomal dominant skeletal dysplasia caused by mutation(s) in the PRKAR1A gene, encoding cAMP-dependent protein kinase type I-alpha regulatory subunit. It is characterized by short stature, brachydactyly, and characteristic facial features. Resistance to multiple hormones is a common finding.

Also known as: ADOHR, Acrodysostosis 1, Acrodysostosis 1 with or without hormone resistance, Acrodysostosis 1, with or without hormone resistance, ACRDYS1

35 clinical trials for this condition and its sub-types.

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