Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 5443
Gene Symbol: POMC
POMC
0.200 Biomarker phenotype BEFREE Adrenal insufficiency is characterised by inadequate -glucocorticoid production owing to destruction of the adrenal cortex or lack of adrenocorticotropic hormone stimulation. 28572228 2017
Entrez Id: 5443
Gene Symbol: POMC
POMC
0.200 Biomarker phenotype BEFREE Allgrove syndrome (or triple A syndrome) is a rare autosomal recessive disorder characterized by alacrima, achalasia, ACTH-resistant adrenal insufficiency and autonomic/neurological abnormalities. 20051279 2010
Entrez Id: 5443
Gene Symbol: POMC
POMC
0.200 Biomarker phenotype BEFREE Adrenocorticotropic hormone (ACTH) stimulation test revealed 87 patients (24.23%) to have AI. 29806602 2018
Entrez Id: 5443
Gene Symbol: POMC
POMC
0.200 Biomarker phenotype BEFREE Postoperative ACTH stimulation testing to identify patients with AI. 31225874 2019
Entrez Id: 5443
Gene Symbol: POMC
POMC
0.200 Biomarker phenotype BEFREE By using the 250-μg ACTH stimulation test, at least 39% and 23·5% were diagnosed with adrenal gland hypofunction in TD and NTD children, respectively. 23634994 2013
Entrez Id: 5443
Gene Symbol: POMC
POMC
0.200 Biomarker phenotype BEFREE The triple A syndrome (MIM*231550) is a rare autosomal recessive disorder characterized by adrenocorticotropic hormone (ACTH) resistant adrenal failure, achalasia, alacrima and a variety of neurological and dermatological features. 12530689 2002
Entrez Id: 5443
Gene Symbol: POMC
POMC
0.200 Biomarker phenotype BEFREE Triple A syndrome (AAAS) is a rare autosomal recessive disorder characterized by alacrima, achalasia, ACTH-resistant adrenal insufficiency, autonomic dysfunction, and progressive neurodegeneration. 28395280 2017
Entrez Id: 5443
Gene Symbol: POMC
POMC
0.200 Biomarker phenotype BEFREE By protocol, the first group received steroids in step 3 of the treatment according to the current international guidelines (group A), and the second group was managed as group A and was tested for AI by adrenal stimulation test using intramuscular adrenocorticotropic hormone (cosyntropin) (group B). 27798546 2017
Entrez Id: 5443
Gene Symbol: POMC
POMC
0.200 Biomarker phenotype BEFREE The triple A syndrome (MIM#231550) is a rare autosomal recessive disorder characterized by adrenocorticotropic hormone (ACTH) resistant adrenal failure, achalasia, alacrima, and a variety of neurological and dermatological features. 15666842 2004
Entrez Id: 5443
Gene Symbol: POMC
POMC
0.200 Biomarker phenotype BEFREE Clinical picture is characterized by achalasia, alacrimia and ACTH-resistant adrenal failure. 23800107 2013
Entrez Id: 5443
Gene Symbol: POMC
POMC
0.200 Biomarker phenotype BEFREE The triple A syndrome or Allgrove syndrome (MIM*231550) is characterized by adrenocorticotropic hormone (ACTH) resistant Adrenal insufficiency, Achalasia of the cardia and Alacrima. 11196451 2000
Entrez Id: 5443
Gene Symbol: POMC
POMC
0.200 Biomarker phenotype BEFREE The subsequent evidence of low plasmatic and urinary cortisol and increased ACTH required the start of Hydrocortisone replacement therapy and it defined a clinical picture of adrenal insufficiency. 31164167 2019
Entrez Id: 5443
Gene Symbol: POMC
POMC
0.200 AlteredExpression phenotype BEFREE Progression of hyperpigmentation prompted further investigations and the diagnosis of adrenal insufficiency was established at 2 years with raised ACTH, normal renin activity, and failure of cortisol to respond to short synacthen test.Genetic analyses were performed. 22968487 2012
Entrez Id: 5443
Gene Symbol: POMC
POMC
0.200 AlteredExpression phenotype BEFREE It is important to recognize that relative adrenal insufficiency (AI) is the most common cause of low cortisol levels and failed ACTH challenge in ill patients. 31567142 2019
Entrez Id: 5443
Gene Symbol: POMC
POMC
0.200 AlteredExpression phenotype BEFREE However, basal morning plasma adrenocorticotropic hormone (ACTH) levels were markedly elevated in the two males with ALD and AMN, despite the fact that they had no clinical signs of adrenal insufficiency and that morning plasma cortisol levels and their response to maximal exogenous ACTH stimulation appeared to be normal. 218453 1979
Entrez Id: 5443
Gene Symbol: POMC
POMC
0.200 AlteredExpression phenotype BEFREE On an outpatient visit, serum ACTH and cortisol levels were normal despite the discontinuation of fludrocortisone and so the patient had been evaluated as partial adrenal insufficiency secondary to PD-related peritonitis. 31291617 2019
Entrez Id: 5443
Gene Symbol: POMC
POMC
0.200 AlteredExpression phenotype BEFREE Patients were divided into 3 groups according to the serum cortisol response to the rapid ACTH test; those with a peak serum cortisol level of <15 μg/dL were defined as the adrenal insufficiency (AI) probable group, ≥15 μg/dL and <18 μg/dL as the AI suspected group, and ≥18 μg/dL as the non-AI group. 31597820 2020
Entrez Id: 5443
Gene Symbol: POMC
POMC
0.200 AlteredExpression phenotype BEFREE Lipid depletion and reduced ACTH-regulated gene expression in prolonged critical illness suggest that sustained lack of ACTH may contribute to the risk of adrenal insufficiency in long-stay ICU patients. 25062464 2014