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: C0043346
Disease: Xeroderma Pigmentosum
Xeroderma Pigmentosum
0.010 AlteredExpression disease BEFREE Both factors activate the two DNA damage sensors ataxia telangiectasia and Rad3-related and ataxia telangiectasia mutated, enhance DNA damage recognition by reducing soluble nuclear and chromatin-bound DNA damage binding protein 2, and increase total and chromatin-bound xeroderma pigmentosum (XP) C. Additionally, α-MSH and End-1 increase total levels and chromatin localization of the damage verification protein XPA, and the levels of γH2AX, which facilitates recruitment of DNA repair proteins to DNA lesions. 31505093 2020
CUI: C0085207
Disease: Gestational Diabetes
Gestational Diabetes
0.010 Biomarker phenotype BEFREE On multiple logistic regression, novel factors associated with development of BPD-LPH included presence of maternal diabetes, EPH, tracheostomy, tracheitis, intraventricular hemorrhage (IVH, grade ≥3) and systemic steroid use. 31723236 2020
CUI: C0162810
Disease: Cicatrix, Hypertrophic
Cicatrix, Hypertrophic
0.010 GeneticVariation disease BEFREE Promoter methylation status in pro-opiomelanocortin (POMC) does not contribute to dyspigmentation in hypertrophic scar. 31541238 2020
CUI: C1265996
Disease: Large cell neuroendocrine carcinoma
Large cell neuroendocrine carcinoma
0.010 AlteredExpression disease BEFREE A recently described case of isolated ACTH deficiency with large cell neuroendocrine carcinoma (LCNEC) showed ectopically expressed proopiomelanocortin (POMC), and circulating anti-POMC antibody and POMC-reactive CTLs were also detected. 31513261 2020
CUI: C1274651
Disease: Hypopigmented scar
Hypopigmented scar
0.010 AlteredExpression disease BEFREE POMC protein expression is upregulated in hyperpigmented scar compared to hypopigmented scar by an unknown mechanism in a Duroc pig model of HTS. 31541238 2020
CUI: C1704421
Disease: Skin Pigmentation Disorder
Skin Pigmentation Disorder
0.010 Biomarker group BEFREE Our results highlight the involvement of ACTH and cAMP in the control of light emission in sharks and suggest a functional similarity between skin pigment migration and luminescence control, this latter being mediated by pigment movements in the light organ-associated iris-like structure cells. 31441051 2020
CUI: C1827396
Disease: Refractory infantile spasms
Refractory infantile spasms
0.010 GeneticVariation disease BEFREE Children six to 36 months of age with IS that failed treatment with both adrenocorticotropic hormone (ACTH) and vigabatrin (VGB) were eligible for enrollment. 31816477 2020
CUI: C3824685
Disease: Harmful use of ketamine
Harmful use of ketamine
0.010 Biomarker disease BEFREE Chronic ketamine abuse is associated with orexin-A reduction and ACTH elevation. 31377886 2020
CUI: C4237343
Disease: Overweight or obesity
Overweight or obesity
0.010 Biomarker phenotype BEFREE A systematic review and meta-analysis was conducted to determine the effects of prebiotics or synbiotics on blood biomarkers of obesity, depression, and anxiety (including: ACTH [adrenocorticotropic hormone], cortisol, leptin, ghrelin, TSH [thyroid-stimulating hormone], PTH [parathyroid hormone], vitamin D, BDNF [brain-derived neurotrophic factor], and PCR [polymerase chain reaction]) in individuals with overweight or obesity. 31504857 2020
CUI: C0001418
Disease: Adenocarcinoma
Adenocarcinoma
0.010 Biomarker group BEFREE Cushing syndrome associated with ectopic ACTH from tumors of colonic origin is a rare phenomenon with poor outcomes and can be associated with pure NETs, adenocarcinomas, and mixed-phenotype tumors, including mixed adenocarcinoma-neuroendocrine carcinoma. 30314823 2019
CUI: C0001621
Disease: Adrenal Gland Diseases
Adrenal Gland Diseases
0.010 Biomarker group BEFREE Measurement of plasma adrenocorticotropic hormone (ACTH) is key in the differential diagnosis of hypothalamic-pituitary-adrenal disorders. 31570632 2019
CUI: C0004943
Disease: Behcet Syndrome
Behcet Syndrome
0.010 Biomarker disease BEFREE When BD and HC were compared the MAF and PSQI scores as well as the serum concentrations of α-MSH, VIP, and IL-6 were significantly higher in BD (p values were: 0.001, 0.001, 0.001, 0.004 and 0.036, respectively). 30299243 2019
CUI: C0010346
Disease: Crohn Disease
Crohn Disease
0.010 Biomarker disease BEFREE The difference is most evident for the rate of Met-enkephalin degradation between men (mean T<sub>1/2</sub> = 13.61 min) and women (mean T<sub>1/2</sub>  = 21.84 min) with Crohn's disease (CD). 30391790 2019
CUI: C0018099
Disease: Gout
Gout
0.010 Biomarker disease BEFREE Furthermore, the average number of days needed to achieve 100% resolution of gout symptoms in patients treated with ACTH was similar to those of the corticosteroid triamcinolone. 30183601 2019
CUI: C0018378
Disease: Guillain-Barre Syndrome
Guillain-Barre Syndrome
0.010 Biomarker disease BEFREE Isolated adrenocorticotropic hormone (ACTH) deficiency and Guillain-Barré syndrome occurring in a patient treated with nivolumab. 31439558 2019
CUI: C0018979
Disease: Hemianopsia
Hemianopsia
0.010 Biomarker disease BEFREE In addition to confirming adrenocorticotropic hormone (ACTH)-dependent Cushing's syndrome, we found left temporal hemianopsia, massively increased prolactin, increased growth hormone/insulin-like growth factor 1 values, hypogonadotropic hypogonadism and central hypothyroidism. 30765454 2019
CUI: C0021141
Disease: Inappropriate ADH Syndrome
Inappropriate ADH Syndrome
0.010 Biomarker phenotype BEFREE Acute adrenocorticotropic hormone (ACTH)/cortisol deficiency occurs in 10-15% of TBI patients and can present with a biochemical picture identical to SIAD. 30334138 2019
CUI: C0021364
Disease: Male infertility
Male infertility
0.010 Biomarker phenotype BEFREE The current result showed that β-EP was a key factor to PS-induced male infertility. 31623282 2019
CUI: C0021841
Disease: Intestinal Neoplasms
Intestinal Neoplasms
0.010 Biomarker group BEFREE We report the challenging case of a rapidly cycling CS secondary to ACTH-secreting neuroendocrine intestinal tumor of unknown primary. 31640675 2019
CUI: C0023890
Disease: Liver Cirrhosis
Liver Cirrhosis
0.010 GeneticVariation disease BEFREE Salivary Cortisol Determination in ACTH Stimulation Test to Diagnose Adrenal Insufficiency in Patients with Liver Cirrhosis. 31320899 2019
CUI: C0024003
Disease: Lordosis
Lordosis
0.010 Biomarker phenotype BEFREE Estradiol priming activates ARH β-endorphin (β-END) neurons that then activate medial preoptic (MPN) μ-opioid receptors (MOP) to inhibit lordosis. 30981690 2019
CUI: C0026838
Disease: Muscle Spasticity
Muscle Spasticity
0.010 AlteredExpression phenotype BEFREE Physical examination, laboratory tests, and MRI showed that he had adult-onset AMN manifestations, including spasticity and hyperactive tendon reflexes with Hoffman and Babinski signs in the limbs, difficulty in performing the heel-to-shin test, hyperpigmentation, increased levels of adrenocorticotropic hormone and very long-chain fatty acids, decreased levels of corticosteroid and serum gesterol, and salient atrophy of the cervical and thoracic spinal cord. 31557422 2019
CUI: C0027765
Disease: nervous system disorder
nervous system disorder
0.010 Biomarker group BEFREE The aims are to determine autoantibody levels against nine candidate autoantigens representing (1) proteins of the hypocretin transmitter system; Preprohypocretin (ppHypocretin), Hypocretin peptides 1 and 2 (HCRT1 and HCRT2) and Hypocretin receptor 2 (HCRTR2); (2) proteins previously associated with NT1; Tribbles homologue 2 (TRIB2), Pro-opiomelanocortin/alpha-melanocyte-stimulating-hormone (POMC/α-MSH) and Prostaglandin D2 Receptor DP1 (DP1); (3) proteins suggested as autoantigens for multiple sclerosis (another <i>HLA DQB1*06:02</i>-associated neurological disease); ATP-dependent Inwardly Rectifying Potassium Channel Kir4.1 (KIR4.1) and Calcium-activated chloride channel Anoctamin 2 (ANO2). 31328572 2019
CUI: C0032326
Disease: Pneumothorax
Pneumothorax
0.010 Biomarker phenotype BEFREE Based on case series of our daily routine clinical work, in combining with the latest literatures, we introducing the new using field of POC-LUS in guiding the treatment of uninflated lung disease by bronchoalveolar lavage (BAL), guiding the treatment of severe pleural effusion and pneumothorax, guide the use of and weaning from mechanical ventilation, and in assessing the efficacy of exogenous pulmonary surfactant (PS) therapy. 30835592 2019
CUI: C0033802
Disease: Pseudogout
Pseudogout
0.010 Biomarker disease BEFREE A search was performed up to June 2017.We included clinical trials or case studies/series where ACTH had been administered in human subjects as a treatment for acute gout or pseudogout. 30183601 2019