MC2R, melanocortin 2 receptor, 4158

N. diseases: 109; N. variants: 24
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4049650
Disease: Familial Glucocorticoid Deficiency Type 1
Familial Glucocorticoid Deficiency Type 1 		0.700 GeneticVariation disease BEFREE Here we report on a Chinese patient with FGD1 having a novel MC2R gene variant, a mild transverse palm crease, hypertelorism, and subtle/transient endocrine abnormalities relating to all three zones of the adrenal cortex and thyroid gland. 31244773 2019
CUI: C4049650
Disease: Familial Glucocorticoid Deficiency Type 1
Familial Glucocorticoid Deficiency Type 1 		0.700 Biomarker disease BEFREE Familial glucocorticoid deficiency type 1 (FGD1) is a rare autosomal-recessive disorder resulting from defective ACTH receptor (melanocortin receptor type 2, MC2R). 21778684 2011
CUI: C4049650
Disease: Familial Glucocorticoid Deficiency Type 1
Familial Glucocorticoid Deficiency Type 1 		0.700 GeneticVariation disease BEFREE A novel mutation in the MC2R gene causing familial glucocorticoid deficiency type 1. 21701219 2011
CUI: C4049650
Disease: Familial Glucocorticoid Deficiency Type 1
Familial Glucocorticoid Deficiency Type 1 		0.700 GeneticVariation disease BEFREE This would be similar to the clinical findings in familial glucocorticoid deficiency type 1, an autosomal recessive condition due to inactivating mutations of the adrenal receptor for ACTH, also known as the melanocortin 2 receptor (MC2R). 19931309 2010
CUI: C4049650
Disease: Familial Glucocorticoid Deficiency Type 1
Familial Glucocorticoid Deficiency Type 1 		0.700 GeneticVariation disease BEFREE The elucidation of the genetic basis of the ACTH resistance syndrome has contributed to the better understanding of MC2R function. 20374727 2009
CUI: C4049650
Disease: Familial Glucocorticoid Deficiency Type 1
Familial Glucocorticoid Deficiency Type 1 		0.700 GermlineCausalMutation disease ORPHANET A novel adrenocorticotropin receptor mutation alters its structure and function, causing familial glucocorticoid deficiency. 18492762 2008
CUI: C4049650
Disease: Familial Glucocorticoid Deficiency Type 1
Familial Glucocorticoid Deficiency Type 1 		0.700 GeneticVariation disease BEFREE In conclusion, the molecular basis of ACTH resistance syndrome is heterogeneous, segregating with genes coding for proteins involved with ACTH receptor signaling/expression or adrenal gland development and other unknown genes. 18426811 2008
CUI: C4049650
Disease: Familial Glucocorticoid Deficiency Type 1
Familial Glucocorticoid Deficiency Type 1 		0.700 GeneticVariation disease BEFREE Familial glucocorticoid deficiency type 1 due to a novel compound heterozygous MC2R mutation. 18504396 2008
CUI: C4049650
Disease: Familial Glucocorticoid Deficiency Type 1
Familial Glucocorticoid Deficiency Type 1 		0.700 GermlineCausalMutation disease ORPHANET In conclusion, we provide evidence that the IGD in this previously unreported family with ACTH resistance appears to be secondary to compound heterozygosity of a coding region and a promoter mutation in the MC2R gene. 17128564 2006
CUI: C4049650
Disease: Familial Glucocorticoid Deficiency Type 1
Familial Glucocorticoid Deficiency Type 1 		0.700 GeneticVariation disease BEFREE In conclusion, we provide evidence that the IGD in this previously unreported family with ACTH resistance appears to be secondary to compound heterozygosity of a coding region and a promoter mutation in the MC2R gene. 17128564 2006
CUI: C4049650
Disease: Familial Glucocorticoid Deficiency Type 1
Familial Glucocorticoid Deficiency Type 1 		0.700 GeneticVariation disease UNIPROT Clinical, genetic, and functional characterization of adrenocorticotropin receptor mutations using a novel receptor assay. 12213892 2002
CUI: C4049650
Disease: Familial Glucocorticoid Deficiency Type 1
Familial Glucocorticoid Deficiency Type 1 		0.700 GeneticVariation disease BEFREE Novel mutations of the ACTH receptor gene in a female adult patient with adrenal unresponsiveness to ACTH. 10971458 2000
CUI: C4049650
Disease: Familial Glucocorticoid Deficiency Type 1
Familial Glucocorticoid Deficiency Type 1 		0.700 Biomarker disease BEFREE These findings indicate that ACTH resistance resulting from a defective ACTH receptor may be associated with abnormalities of cartilage and/or bone growth independently of the GH-IGF-I axis, but probably dependent on ACTH actions through other melanocortin receptors. 11012566 2000
CUI: C4049650
Disease: Familial Glucocorticoid Deficiency Type 1
Familial Glucocorticoid Deficiency Type 1 		0.700 GeneticVariation disease UNIPROT Novel mutations of the ACTH receptor gene in a female adult patient with adrenal unresponsiveness to ACTH. 10971458 2000
CUI: C4049650
Disease: Familial Glucocorticoid Deficiency Type 1
Familial Glucocorticoid Deficiency Type 1 		0.700 GeneticVariation disease BEFREE Interestingly, ACTH receptor mutations are not present in all patients with FGD and also not in the closely related "triple A' syndrome indicating that other mechanisms of ACTH resistance are still to be elucidated. 9167964 1997
CUI: C4049650
Disease: Familial Glucocorticoid Deficiency Type 1
Familial Glucocorticoid Deficiency Type 1 		0.700 GeneticVariation disease BEFREE In 6, mutations, in the coding region of the ACTH receptor are the cause of their ACTH resistance. 9196605 1997
CUI: C4049650
Disease: Familial Glucocorticoid Deficiency Type 1
Familial Glucocorticoid Deficiency Type 1 		0.700 GeneticVariation disease UNIPROT Demonstration by transfection studies that mutations in the adrenocorticotropin receptor gene are one cause of the hereditary syndrome of glucocorticoid deficiency. 8636348 1996
CUI: C4049650
Disease: Familial Glucocorticoid Deficiency Type 1
Familial Glucocorticoid Deficiency Type 1 		0.700 GermlineCausalMutation disease ORPHANET Mutations of the ACTH receptor gene are only one cause of familial glucocorticoid deficiency. 8069303 1994
CUI: C4049650
Disease: Familial Glucocorticoid Deficiency Type 1
Familial Glucocorticoid Deficiency Type 1 		0.700 GeneticVariation disease UNIPROT Familial glucocorticoid deficiency associated with point mutation in the adrenocorticotropin receptor. 8094489 1993
CUI: C4049650
Disease: Familial Glucocorticoid Deficiency Type 1
Familial Glucocorticoid Deficiency Type 1 		0.700 Biomarker disease GENOMICS_ENGLAND Familial glucocorticoid deficiency associated with point mutation in the adrenocorticotropin receptor. 8094489 1993
CUI: C4049650
Disease: Familial Glucocorticoid Deficiency Type 1
Familial Glucocorticoid Deficiency Type 1 		0.700 GeneticVariation disease UNIPROT Hereditary isolated glucocorticoid deficiency is associated with abnormalities of the adrenocorticotropin receptor gene. 8227361 1993
CUI: C4049650
Disease: Familial Glucocorticoid Deficiency Type 1
Familial Glucocorticoid Deficiency Type 1 		0.700 Biomarker disease GENOMICS_ENGLAND
CUI: C4049650
Disease: Familial Glucocorticoid Deficiency Type 1
Familial Glucocorticoid Deficiency Type 1 		0.700 Biomarker disease GENOMICS_ENGLAND
CUI: C4049650
Disease: Familial Glucocorticoid Deficiency Type 1
Familial Glucocorticoid Deficiency Type 1 		0.700 Biomarker disease CTD_human
CUI: C0005586
Disease: Bipolar Disorder
Bipolar Disorder 		0.320 Biomarker disease PSYGENET Investigation of the candidate genes ACTHR and golf for bipolar illness by the transmission/disequilibrium test. 9433545 1997