POMC, proopiomelanocortin, 5443

N. diseases: 873; N. variants: 39
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3714796
Disease: Isolated somatotropin deficiency
Isolated somatotropin deficiency
0.140 Biomarker disease BEFREE The prevalence rates of pituitary dysfunction after aSAH varies greatly across studies due to different diagnostic methods, though growth hormone deficiency is generally the most frequently reported followed by adrenocorticotropic hormone, gonadotropin and thyroid stimulating hormone deficiencies. 30637621 2019
CUI: C3714796
Disease: Isolated somatotropin deficiency
Isolated somatotropin deficiency
0.140 GeneticVariation disease BEFREE Mutations in the POMC gene were linked with a clinical phenotype of adrenal insufficiency, red hair pigmentation, early onset and rapidly progressive obesity, early onset type 2 diabetes, hypothyroidism, hypogonadism and growth hormone deficiency. 29858905 2018
CUI: C3714796
Disease: Isolated somatotropin deficiency
Isolated somatotropin deficiency
0.140 GeneticVariation disease BEFREE The patient harboring the c.249-1G>A mutation exhibited isolated growth hormone deficiency at diagnosis and a gradual loss of ACTH, whereas the patient with the p.V75I mutation exhibited multiple pituitary hormone deficiency. 23029363 2012
CUI: C3714796
Disease: Isolated somatotropin deficiency
Isolated somatotropin deficiency
0.140 Biomarker disease BEFREE When ACTH or GH deficiency or both deficiencies are present, hypoglycemia and cortisol deficiency can lead to neonatal and infantile death or increased morbidity. 15728198 2005
CUI: C3714796
Disease: Isolated somatotropin deficiency
Isolated somatotropin deficiency
0.140 Biomarker disease HPO