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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.
 
Orphanet: ORPHA280651

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVAcrodysostosis with multiple hormone resistance

Recent clinical studies

Etiology

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: 30006632Free PMC Article
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
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: 25075981Free PMC Article

Diagnosis

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
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
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
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
Lee H, Graham JM Jr, Rimoin DL, Lachman RS, Krejci P, Tompson SW, Nelson SF, Krakow D, Cohn DH
Am J Hum Genet 2012 Apr 6;90(4):746-51. Epub 2012 Mar 29 doi: 10.1016/j.ajhg.2012.03.004. PMID: 22464252Free PMC Article

Therapy

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

Clinical prediction guides

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: 30006632Free PMC Article
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: 26405036Free PMC Article
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: 22464250Free PMC Article
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

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