Details of Disease

General Information of Disease (ID: DIS6N0DS)

Disease Name Acrodysostosis 2 with or without hormone resistance
Synonyms ACRDYS2; acrodysostosis 2, with or without hormone resistance; acrodysostosis caused by mutation in PDE4D; PDE4D acrodysostosis; acrodysostosis 2 with or without hormone resistance
Definition Any acrodysostosis in which the cause of the disease is a mutation in the PDE4D gene.
Disease Hierarchy
DISSV94Z: Acrodysostosis
DIS6N0DS: Acrodysostosis 2 with or without hormone resistance
Disease Identifiers
MONDO ID
MONDO_0013822
MESH ID
C538179
UMLS CUI
C3553250
OMIM ID
614613
MedGen ID
766164

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 3 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
PDE4D TTSKMI8 Limited Genetic Variation [1]
PRKAR1A TTNAHEX Limited Biomarker [2]
PDE4D TTSKMI8 Strong Autosomal dominant [3]
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This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
PDE4D OT1RWFV0 Strong Autosomal dominant [3]
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References

1 Mutations causing acrodysostosis-2 facilitate activation of phosphodiesterase 4D3.Hum Mol Genet. 2017 Oct 15;26(20):3883-3894. doi: 10.1093/hmg/ddx271.
2 Structure of a PKA RI Recurrent Acrodysostosis Mutant Explains Defective cAMP-Dependent Activation.J Mol Biol. 2016 Dec 4;428(24 Pt B):4890-4904. doi: 10.1016/j.jmb.2016.10.033. Epub 2016 Nov 5.
3 Identification of novel mutations confirms PDE4D as a major gene causing acrodysostosis. Hum Mutat. 2013 Jan;34(1):97-102. doi: 10.1002/humu.22222. Epub 2012 Nov 9.