PRL, prolactin, 5617

N. diseases: 506; N. variants: 3
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3665349
Disease: Secondary hypothyroidism
Secondary hypothyroidism
0.100 GeneticVariation disease BEFREE Anti-PIT-1 antibody syndrome, firstly reported in 2011, is characterized by acquired GH, PRL, and TSH deficiencies without PIT-1 mutation and is associated with the presence of the circulating antibody against PIT-1 protein as a marker. 28245453 2017
CUI: C3665349
Disease: Secondary hypothyroidism
Secondary hypothyroidism
0.100 Biomarker disease BEFREE LHX3 mutations are associated with growth hormone, prolactin, gonadotropin, and TSH deficiency; abnormal pituitary morphology; and may be accompanied with limited neck rotation and sensorineural hearing loss. 21249393 2011
CUI: C3665349
Disease: Secondary hypothyroidism
Secondary hypothyroidism
0.100 GeneticVariation disease BEFREE Mutations within POU1F1 are associated with GH, TSH and PRL deficiencies, with the TSH deficiency being highly variable. 18174732 2007
CUI: C3665349
Disease: Secondary hypothyroidism
Secondary hypothyroidism
0.100 Biomarker disease BEFREE Studies on Snell and Jackson mice known to have growth hormone, prolactin and thyroid-stimulating hormone deficiencies involving the hypoplastic pituitary gland have led to identifying alterations of the pituitary specific POU homeodomain Pit-1 transcription factor gene. 16879162 2006
CUI: C3665349
Disease: Secondary hypothyroidism
Secondary hypothyroidism
0.100 Biomarker disease BEFREE Most of the affected individuals manifest GH, prolactin, and TSH deficiency. 15928241 2005
CUI: C3665349
Disease: Secondary hypothyroidism
Secondary hypothyroidism
0.100 Biomarker disease BEFREE The genetic abnormalities include mutations within: (1) Hesx1 (IGHD, SOD or CPHD); (2) Lhx3 (CPHD with preservation of cortisol secretion and a short stiff neck); (3) Lhx4 (GH, TSH and ACTH deficiency with cerebellar hypoplasia); (4) Prop1 (variable CPHD often associated with pituitary masses); (5) POU1F1 (GH, prolactin and TSH deficiency); (6) GHRHR (IGHD) and (7) GH1 (IGHD). 12914740 2003
CUI: C3665349
Disease: Secondary hypothyroidism
Secondary hypothyroidism
0.100 Biomarker disease BEFREE Genetic abnormalities of the pituitary specific transcription factor, Pit-1, have been reported in several patients with GH, prolactin (PRL) and TSH deficiencies. 12773133 2003
CUI: C3665349
Disease: Secondary hypothyroidism
Secondary hypothyroidism
0.100 Biomarker disease BEFREE We report a child whose hypothyroidism was recognized clinically at age 6 weeks, and subsequently found to have GH and Prl as well as TSH deficiency. 9485179 1998
CUI: C3665349
Disease: Secondary hypothyroidism
Secondary hypothyroidism
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: C3665349
Disease: Secondary hypothyroidism
Secondary hypothyroidism
0.100 Biomarker disease BEFREE These patients present extreme short stature, GH, PRL and TSH deficiency but intact ACTH, LH and FSH secretion.The pituitary is usually hypoplastic. 9699131 1998
CUI: C3665349
Disease: Secondary hypothyroidism
Secondary hypothyroidism
0.100 Biomarker disease BEFREE All had complete GH deficiency and complete or partial Prl and TSH deficiency. 9632165 1998
CUI: C3665349
Disease: Secondary hypothyroidism
Secondary hypothyroidism
0.100 Biomarker disease BEFREE These patients present extreme short stature, GH, PRL and TSH deficiency but intact ACTH, LH and FSH secretion.The pituitary is usually hypoplastic. 9438923 1997
CUI: C3665349
Disease: Secondary hypothyroidism
Secondary hypothyroidism
0.100 Biomarker disease BEFREE Interestingly, both recessive and dominant mutations at the gene encoding for the pituitary transcription factor Pit-1 have been found in a specific subtype of PD that combines GH, prolactin and TSH deficiencies. 7868072 1994
CUI: C3665349
Disease: Secondary hypothyroidism
Secondary hypothyroidism
0.100 Biomarker disease BEFREE Studies of kindreds with GH, Prl and TSH deficiency have disclosed a variety of mutations in the Pit-1 gene. 8300051 1993
CUI: C3665349
Disease: Secondary hypothyroidism
Secondary hypothyroidism
0.100 Biomarker disease BEFREE Four out of 10 children in two unrelated families presented with a total pituitary growth hormone (GH) and prolactin deficiency and a partial thyrotropin (TSH) deficiency.The GH gene was intact in family I. 2634610 1989