General Information of Disease (ID: DIS6U70H)

Disease Name Obsolete acrodysostosis with multiple hormone resistance
Disease Hierarchy
DIS01GPL: Grass pollen hypersensitivity
DIS6U70H: Obsolete acrodysostosis with multiple hormone resistance

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 2 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
PDE4D TTSKMI8 Supportive Autosomal dominant [1]
PRKAR1A TTNAHEX Definitive Autosomal dominant [2]
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This Disease Is Related to 2 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
PDE4D OT1RWFV0 Supportive Autosomal dominant [1]
PRKAR1A OT589JA2 Definitive Autosomal dominant [2]
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References

1 Exome sequencing identifies PDE4D mutations as another cause of acrodysostosis. Am J Hum Genet. 2012 Apr 6;90(4):740-5. doi: 10.1016/j.ajhg.2012.03.003. Epub 2012 Mar 29.
2 Recurrent PRKAR1A mutation in acrodysostosis with hormone resistance. N Engl J Med. 2011 Jun 9;364(23):2218-26. doi: 10.1056/NEJMoa1012717.