PRL, prolactin, 5617

N. diseases: 506; N. variants: 3
Disease: Panhypopituitarism ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0242343
Disease: Panhypopituitarism
Panhypopituitarism 		0.100 GeneticVariation disease BEFREE In vitro studies showed that the <i>POU1F1</i> c.605delC mutation codes for a truncated protein with reduced transactivation capacity on its downstream effectors, viz., growth hormone (<i>GH</i>) and prolactin (<i>PRL</i>) causing severe CPHD. 31022740 2019
CUI: C0242343
Disease: Panhypopituitarism
Panhypopituitarism 		0.100 GeneticVariation disease BEFREE The proband, born to consanguineous parents, presented with proportional growth failure (height 108.8 cm, -3.48 SDS), combined pituitary hormone deficiency (GH, TSH, PRL and gonadotropins) and a suprasellar mass with optic chiasm invasion, compatible with a diagnosis of chiasmatic hypothalamic glioma, as revealed by MRI. 23831233 2013
CUI: C0242343
Disease: Panhypopituitarism
Panhypopituitarism 		0.100 GeneticVariation disease BEFREE We identified a de novo heterozygous 522,009-bp deletion involving LHX4 in a patient with CPHD (GH, TSH, PRL, LH, and FSH deficiencies), anterior pituitary hypoplasia, ectopic posterior pituitary, and underdeveloped sella turcica. 20534763 2010
CUI: C0242343
Disease: Panhypopituitarism
Panhypopituitarism 		0.100 Biomarker disease BEFREE Therefore, abnormalities of the POU1F1 gene are known to be responsible for a phenotype causing combined pituitary hormone deficiency (CPHD) involving growth hormone, prolactin and thyrotropin. 18059085 2008
CUI: C0242343
Disease: Panhypopituitarism
Panhypopituitarism 		0.100 GeneticVariation disease BEFREE PROP1 and POU1F: Recessive mutations within the pituitary-specific transcription factor Prophet of Pit1, or PROP1, are associated with CPHD (GH, prolactin [PRL] and TSH deficiency with additional LH and FSH deficiency). 18174732 2007
CUI: C0242343
Disease: Panhypopituitarism
Panhypopituitarism 		0.100 GeneticVariation disease BEFREE Mutations of the PROP1 gene lead to combined pituitary hormone deficiency (CPHD), which is characterized by a deficiency of GH, TSH, LH/FSH, PRL and, less frequently, ACTH. 16984240 2006
CUI: C0242343
Disease: Panhypopituitarism
Panhypopituitarism 		0.100 Biomarker disease BEFREE Two patients with childhood onset of CPHD (GH, PRL, TSH, LH, FSH) caused by a genetic defect (GA296del mutation) of the Prop1 gene. 15302300 2004
CUI: C0242343
Disease: Panhypopituitarism
Panhypopituitarism 		0.100 Biomarker disease BEFREE The pituitary transcription factor Pit-1 is expressed during the later differentiation stages of anterior pituitary development and Pit-1 mutations have been identified as the cause of a combined pituitary hormone deficiency (CPHD) for GH, prolactin and TSH. 10698595 1999
CUI: C0242343
Disease: Panhypopituitarism
Panhypopituitarism 		0.100 Biomarker disease BEFREE Pit-1 gene mutations result in complete growth hormone (GH) and PRL deficiencies and variable degrees of TSH deficiency, producing the clinical syndrome of combined pituitary hormone deficiency (CPHD). 9588494 1998
CUI: C0242343
Disease: Panhypopituitarism
Panhypopituitarism 		0.100 GeneticVariation disease BEFREE Mutations in the Pit-1 gene account for a form of combined pituitary hormone deficiency for GH, Prolactin (Prl) and TSH (CPHD). 9439906 1997
CUI: C0242343
Disease: Panhypopituitarism
Panhypopituitarism 		0.100 Biomarker disease BEFREE Mutations in the Pit-1 gene result in insufficient expression of this factor, accounting for a form of combined pituitary hormone deficiency for growth hormone (GH), prolactin, and thyroid-stimulating hormone. 8805025 1996