Details of Disease

General Information of Disease (ID: DISMLLJ7)

Disease Name Acrodysostosis 1 with or without hormone resistance
Synonyms ACRDYS1; Acrodysostosis 1; ADOHR; Acrodysostosis 1, with or without hormone resistance; Acrodysostosis 1 with or without hormone resistance
Definition
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.
Disease Hierarchy
DISSV94Z: Acrodysostosis
DISMLLJ7: Acrodysostosis 1 with or without hormone resistance
Disease Identifiers
MONDO ID
MONDO_0007044
MESH ID
C538179
UMLS CUI
C3276228
OMIM ID
101800
MedGen ID
477858

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 4 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
PDE4D TTSKMI8 Strong Biomarker [1]
PRKAR1A TTNAHEX Strong Biomarker [2]
PDE4D TTSKMI8 Definitive Autosomal dominant [3]
PRKAR1A TTNAHEX Definitive Autosomal dominant [4]
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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 Definitive Autosomal dominant [3]
PRKAR1A OT589JA2 Definitive Autosomal dominant [4]
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References

1 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.
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 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.
4 Recurrent PRKAR1A mutation in acrodysostosis with hormone resistance. N Engl J Med. 2011 Jun 9;364(23):2218-26. doi: 10.1056/NEJMoa1012717.