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GTR Home > Conditions/Phenotypes > Acrodysostosis 1 with or without hormone resistance

Acrodysostosis 1 with or without hormone resistance

Synonyms
ACRODYSOSTOSIS 1 WITH HORMONE RESISTANCE; ACRODYSOSTOSIS 1 WITHOUT HORMONE RESISTANCE; ACRODYSOSTOSIS WITH HORMONE RESISTANCE; Acrodysplasia; Nasal hypoplasia-peripheral dysostosis-mental retardation syndrome; Peripheral dysostosis-nasal hypoplasia-mental retardation (PNM) syndrome

Summary

Acrodysostosis-1 (ACRDYS1) is a form of skeletal dysplasia characterized by short stature, severe brachydactyly, facial dysostosis, and nasal hypoplasia. Affected individuals often have advanced bone age and obesity. Laboratory studies show resistance to multiple hormones, including parathyroid, thyrotropin, calcitonin, growth hormone-releasing hormone, and gonadotropin (summary by Linglart et al., 2011). However, not all patients show endocrine abnormalities (Lee et al., 2012). Genetic Heterogeneity of Acrodysostosis See also ACRDYS2 (614613), caused by mutation in the PDE4D gene (600129) on chromosome 5q12. [from OMIM]

Available tests

49 tests are in the database for this condition.

Clinical tests (49 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: ACRDYS1, ADOHR, CAR, CNC, CNC1, PKR1, PPNAD1, PRKAR1, TSE1, PRKAR1A
    Summary: protein kinase cAMP-dependent type I regulatory subunit alpha

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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