Acrodysostosis

Alias:

Acrodysplasia

Maroteaux-Malamut Syndrome

Arkless-Graham Syndrome

Acrodysostosis with or Without Multiple Hormonal Resistance

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Acrodysostosis, also known as acrodysplasia, is related to osteochondrodysplasia and pseudohypoparathyroidism. An important gene associated with Acrodysostosis is PRKAR1A (Protein Kinase CAMP-Dependent Type I Regulatory Subunit Alpha), and among its related pathways/superpathways are Signal Transduction and Activation of cAMP-Dependent PKA. Affiliated tissues include bone and skin, and related phenotypes are intellectual disability and depressed nasal bridge

Related ID：

MALACARDS：ACR013

MESH：C538179