Mutations in MRAP, encoding a new interacting partner of the ACTH receptor, cause familial glucocorticoid deficiency type 2

2005 ◽  
Vol 37 (2) ◽  
pp. 166-170 ◽  
Author(s):  
Louise A Metherell ◽  
J Paul Chapple ◽  
Sadani Cooray ◽  
Alessia David ◽  
Christian Becker ◽  
...  
Keyword(s):  
Acth Receptor ◽  
Glucocorticoid Deficiency ◽  
Deficiency Type

scholarly journals Clinical and biological phenotype of a patient with familial glucocorticoid deficiency type 2 caused by a mutation of melanocortin 2 receptor accessory protein

2007 ◽  
Vol 157 (4) ◽  
pp. 539-542 ◽  
Author(s):  
H Rumié ◽  
L A Metherell ◽  
A J L Clark ◽  
V Beauloye ◽  
M Maes
Keyword(s):  
Case History ◽  
Accessory Protein ◽  
Acth Receptor ◽  
Biological Phenotype ◽  
History Of ◽  
Glucocorticoid Deficiency ◽  
Deficiency Type ◽  
Receptor Accessory Protein

Familial glucocorticoid deficiency (FGD) is a rare inherited disorder which may be caused by mutations in the ACTH receptor (melanocortin 2 receptor, MC2R) named FGD type 1 or by mutations in the MC2R accessory protein (MRAP) named FGD type 2. We report the case history of a male patient from birth until adulthood with FGD type 2, confirmed by a mutation of the MRAP gene.

Linkage of one gene for familial glucocorticoid deficiency type 2 (FGD2) to chromosome 8q and further evidence of heterogeneity

2002 ◽  
Vol 111 (4-5) ◽  
pp. 428-434 ◽  
Author(s):  
Emmanuelle Génin ◽  
Angela Huebner ◽  
Christine Jaillard ◽  
Armelle Faure ◽  
Georges Halaby ◽  
...  
Keyword(s):  
Glucocorticoid Deficiency ◽  
Deficiency Type

Mutations in a Novel Gene, Encoding a Single Transmembrane Domain Protein Are Associated with Familial Glucocorticoid Deficiency Type 2

2004 ◽  
Vol 30 (4) ◽  
pp. 889-890 ◽  
Author(s):  
Louise A. Metherell ◽  
Sadani Cooray ◽  
Angela Huebner ◽  
Franz Ruschendorf ◽  
Danielle Naville ◽  
...  
Keyword(s):  
Transmembrane Domain ◽  
Gene Encoding ◽  
Novel Gene ◽  
Domain Protein ◽  
Glucocorticoid Deficiency ◽  
Deficiency Type

scholarly journals Familial Glucocorticoid Deficiency Type 2 in Two Neonates

2003 ◽  
Vol 23 (1) ◽  
pp. 62-66 ◽  
Author(s):  
Pallath Ramachandran ◽  
Armelle Penhoat ◽  
Danielle Naville ◽  
Martine Begeot ◽  
Laila Osama Abdel-Wareth ◽  
...  
Keyword(s):  
Glucocorticoid Deficiency ◽  
Deficiency Type

scholarly journals Familial Glucocorticoid Deficiency Type 2: A Case Report - Case Report

2010 ◽  
Vol 2 (3) ◽  
pp. 122-125 ◽  
Author(s):  
Leyla Akın ◽  
Selim Kurtoğlu ◽  
Mustafa Kendirci ◽  
Mustafa Ali Akın
Keyword(s):  
Case Report ◽  
Glucocorticoid Deficiency ◽  
Deficiency Type

scholarly journals Missense Mutations in the Melanocortin 2 Receptor Accessory Protein That Lead to Late Onset Familial Glucocorticoid Deficiency Type 2

Endocrinology ◽  
2010 ◽  
Vol 151 (6) ◽  
pp. 2957-2958
Author(s):  
C. R. Hughes ◽  
T. T. Chung ◽  
A. M. Habeb ◽  
F. Kelestimur ◽  
A. J. L. Clark ◽  
...  
Keyword(s):  
Late Onset ◽  
Accessory Protein ◽  
Missense Mutations ◽  
Glucocorticoid Deficiency ◽  
Deficiency Type ◽  
Receptor Accessory Protein
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