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

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Broader categories

Disease (717) Musculoskeletal system disorder (214) Hereditary disease (188) Bone disorder (51) Human disease (15) Skeletal system disorder (4) Bone development disease (2) Disease of genetic or genomic mechanism (2) Skeletal dysplasia (1) Acrodysostosis (0)

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