Full Report

Format

Full Report
Summary (Text)
Summary (XML)

Send to:

Choose Destination

File
Clipboard
Collections

Acrodysostosis with multiple hormone resistance

MedGen UID:: 957516
•Concept ID:: CN274488
•: Disease or Syndrome

Modes of inheritance:	Autosomal dominant inheritance MedGen UID: 141047 •Concept ID: C0443147 • Intellectual Product Source: Orphanet A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele. Autosomal dominant inheritance (Orphanet)

Orphanet:	ORPHA280651

Term Hierarchy

GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVAcrodysostosis with multiple hormone resistance

Connective and Soft Tissue Disorder
- Musculoskeletal system disorder
  - Disorder of bone
    - Bone development disease
      - Dysostosis
        Acrofacial dysostosis
        Acrodysostosis with multiple hormone resistance

Recent clinical studies

Etiology

Expanding the phenotypic spectrum of variants in PDE4D/PRKAR1A: from acrodysostosis to acroscyphodysplasia.

Michot C, Le Goff C, Blair E, Blanchet P, Capri Y, Gilbert-Dussardier B, Goldenberg A, Henderson A, Isidor B, Kayserili H, Kinning E, Le Merrer M, Lyonnet S, Odent S, Simsek-Kiper PO, Quelin C, Savarirayan R, Simon M, Splitt M, Verhagen JMA, Verloes A, Munnich A, Baujat G, Cormier-Daire V
Eur J Hum Genet 2018 Nov;26(11):1611-1622. Epub 2018 Jul 13 doi: 10.1038/s41431-018-0135-1. PMID: 30006632 Free PMC Article

Multiple hormone resistance and alterations of G-protein-coupled receptors signaling.

Mantovani G, Elli FM
Best Pract Res Clin Endocrinol Metab 2018 Apr;32(2):141-154. Epub 2018 Jan 31 doi: 10.1016/j.beem.2018.01.002. PMID: 29678282

The first mutation identified in a Chinese acrodysostosis patient confirms a p.G289E variation of PRKAR1A causes acrodysostosis.

Li N, Nie M, Li M, Jiang Y, Xing X, Wang O, Li C, Xia W
Int J Mol Sci 2014 Jul 29;15(8):13267-74. doi: 10.3390/ijms150813267. PMID: 25075981 Free PMC Article

See all (3)

Diagnosis

KBG syndrome presenting with brachydactyly type E.

Libianto R, Wu KH, Devery S, Eisman JA, Center JR
Bone 2019 Jun;123:18-22. Epub 2019 Mar 12 doi: 10.1016/j.bone.2019.03.012. PMID: 30877071

Multiple hormone resistance and alterations of G-protein-coupled receptors signaling.

Mantovani G, Elli FM
Best Pract Res Clin Endocrinol Metab 2018 Apr;32(2):141-154. Epub 2018 Jan 31 doi: 10.1016/j.beem.2018.01.002. PMID: 29678282

Phenotypic Variability in a Family with Acrodysostosis Type 2 Caused by a Novel PDE4D Mutation Affecting the Serine Target of Protein Kinase-A Phosphorylation.

Hoppmann J, Gesing J, Silve C, Leroy C, Bertsche A, Hirsch FW, Kiess W, Pfäffle R, Schuster V
J Clin Res Pediatr Endocrinol 2017 Dec 15;9(4):360-365. Epub 2017 May 17 doi: 10.4274/jcrpe.4488. PMID: 28515031 Free PMC Article

Multiple hormonal resistances: Diagnosis, evaluation and therapy.

Linglart A, Silve C, Rothenbuhler A
Ann Endocrinol (Paris) 2015 May;76(2):98-100. Epub 2015 Apr 23 doi: 10.1016/j.ando.2015.03.029. PMID: 25913526

PRKAR1A and PDE4D mutations cause acrodysostosis but two distinct syndromes with or without GPCR-signaling hormone resistance.

Linglart A, Fryssira H, Hiort O, Holterhus PM, Perez de Nanclares G, Argente J, Heinrichs C, Kuechler A, Mantovani G, Leheup B, Wicart P, Chassot V, Schmidt D, Rubio-Cabezas Ó, Richter-Unruh A, Berrade S, Pereda A, Boros E, Muñoz-Calvo MT, Castori M, Gunes Y, Bertrand G, Bougnères P, Clauser E, Silve C
J Clin Endocrinol Metab 2012 Dec;97(12):E2328-38. Epub 2012 Oct 5 doi: 10.1210/jc.2012-2326. PMID: 23043190

See all (7)

Therapy

PRKAR1A and PDE4D mutations cause acrodysostosis but two distinct syndromes with or without GPCR-signaling hormone resistance.

See all (1)

Clinical prediction guides

Expanding the phenotypic spectrum of variants in PDE4D/PRKAR1A: from acrodysostosis to acroscyphodysplasia.

Functional Characterization of PRKAR1A Mutations Reveals a Unique Molecular Mechanism Causing Acrodysostosis but Multiple Mechanisms Causing Carney Complex.

Rhayem Y, Le Stunff C, Abdel Khalek W, Auzan C, Bertherat J, Linglart A, Couvineau A, Silve C, Clauser E
J Biol Chem 2015 Nov 13;290(46):27816-28. Epub 2015 Sep 24 doi: 10.1074/jbc.M115.656553. PMID: 26405036 Free PMC Article

Exome sequencing identifies PDE4D mutations as another cause of acrodysostosis.

Michot C, Le Goff C, Goldenberg A, Abhyankar A, Klein C, Kinning E, Guerrot AM, Flahaut P, Duncombe A, Baujat G, Lyonnet S, Thalassinos C, Nitschke P, Casanova JL, Le Merrer M, Munnich A, Cormier-Daire V
Am J Hum Genet 2012 Apr 6;90(4):740-5. Epub 2012 Mar 29 doi: 10.1016/j.ajhg.2012.03.003. PMID: 22464250 Free PMC Article

Recurrent PRKAR1A mutation in acrodysostosis with hormone resistance.

Linglart A, Menguy C, Couvineau A, Auzan C, Gunes Y, Cancel M, Motte E, Pinto G, Chanson P, Bougnères P, Clauser E, Silve C
N Engl J Med 2011 Jun 9;364(23):2218-26. doi: 10.1056/NEJMoa1012717. PMID: 21651393

See all (4)

MedGen

National Center for Biotechnology Information

Send to:

Acrodysostosis with multiple hormone resistance

Term Hierarchy

Recent clinical studies

Etiology

Diagnosis

Therapy

Clinical prediction guides

Supplemental Content

Table of contents

Genetic Testing Registry

Clinical resources

Consumer resources

Reviews

Related information

Recent activity