Details of Disease

General Information of Disease (ID: DISSV94Z)

Disease Name Acrodysostosis
Synonyms
nasal hypoplasia-peripheral dysostosis-intellectual disability syndrome; peripheral dysostosis-nasal hypoplasia-intellectual disability (PNM) syndrome; Maroteaux-Malamut syndrome; acrodysplasia; Arkless-Graham syndrome
Definition Acrodysostosis (ACRDYS) is a rare primary bone dysplasia characterized by severe brachydactyly, peripheral dysostosis with facial dysostosis, nasal hypoplasia, and developmental delay.
Disease Hierarchy
DISUEW2W: Hereditary otorhinolaryngologic disease
DISEGMSH: Mandibulofacial dysostosis
DISMZUIT: Acromelic dysplasia
DISHPNVX: Dysplasia
DISSV94Z: Acrodysostosis
Disease Identifiers
MONDO ID
MONDO_0019797
MESH ID
C538179
UMLS CUI
C0220659
MedGen ID
113097
Orphanet ID
950
SNOMED CT ID
66758006

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 5 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
PDE4D TTSKMI8 Supportive Autosomal dominant [1]
PRKAR1A TTNAHEX Supportive Autosomal dominant [2]
PDE3A TT06AWU Strong Genetic Variation [3]
PDE4A TTZ97H5 Strong Biomarker [4]
PRKAR1A TTNAHEX Strong Biomarker [5]
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This Disease Is Related to 3 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
PDE4D OT1RWFV0 Supportive Autosomal dominant [1]
PRKAR1A OT589JA2 Supportive Autosomal dominant [2]
PREX1 OTUTPVA9 Strong Biomarker [6]
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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.
3 Current Nomenclature of Pseudohypoparathyroidism: Inactivating Parathyroid Hormone/Parathyroid Hormone-Related Protein Signaling Disorder.J Clin Res Pediatr Endocrinol. 2017 Dec 30;9(Suppl 2):58-68. doi: 10.4274/jcrpe.2017.S006. Epub 2017 Dec 27.
4 Modulation of signaling through GPCR-cAMP-PKA pathways by PDE4 depends on stimulus intensity: Possible implications for the pathogenesis of acrodysostosis without hormone resistance.Mol Cell Endocrinol. 2017 Feb 15;442:1-11. doi: 10.1016/j.mce.2016.11.026. Epub 2016 Nov 28.
5 Identification of novel pathogenic variants and features in patients with pseudohypoparathyroidism and acrodysostosis, subtypes of the newly classified inactivating PTH/PTHrP signaling disorders.Am J Med Genet A. 2019 Jul;179(7):1330-1337. doi: 10.1002/ajmg.a.61163. Epub 2019 May 1.
6 cAMP-dependent activation of the Rac guanine exchange factor P-REX1 by type I protein kinase A (PKA) regulatory subunits.J Biol Chem. 2019 Feb 15;294(7):2232-2246. doi: 10.1074/jbc.RA118.006691. Epub 2018 Dec 10.