POU1F1, POU class 1 homeobox 1, 5449

N. diseases: 155; N. variants: 21
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0020676
Disease: Hypothyroidism
Hypothyroidism
0.180 GeneticVariation disease BEFREE POU1F1 (Pit-1; Gene ID 5449) is an anterior pituitary transcriptional factor, and POU1F1 mutation is known to cause anterior pituitary hypoplasia, growth hormone and prolactin deficiency and various degree of hypothyroidism. 21316014 2011
CUI: C0020676
Disease: Hypothyroidism
Hypothyroidism
0.180 GeneticVariation disease BEFREE Mutations within POU1F1 are associated with GH, TSH and PRL deficiencies, with the TSH deficiency being highly variable. 18174732 2007
CUI: C0020676
Disease: Hypothyroidism
Hypothyroidism
0.180 GeneticVariation disease BEFREE One of the symptoms of patients with POU1F1 mutations is hypothyroidism and abnormalities of the nervous system early in the period after birth. 16505001 2006
CUI: C0020676
Disease: Hypothyroidism
Hypothyroidism
0.180 GeneticVariation 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: C0020676
Disease: Hypothyroidism
Hypothyroidism
0.180 GeneticVariation disease LHGDN We describe a newborn with clinical signs of severe hypothyroidism and combined pituitary hormone deficiency due to a new mutation in the PIT-1 gene. 11847467 2001
CUI: C0020676
Disease: Hypothyroidism
Hypothyroidism
0.180 GeneticVariation disease BEFREE However, as the involvement of PIT1 mutation is rare in Russia, the other negative cases need to be analyzed for another candidate gene responsible for combined GH/Pr/TSH deficiency. 9632165 1998
CUI: C0020676
Disease: Hypothyroidism
Hypothyroidism
0.180 GeneticVariation disease BEFREE Children with Pit 1 mutations and delayed onset of hypothyroidism may be initially diagnosed as isolated GH deficiency. 9588494 1998
CUI: C0020676
Disease: Hypothyroidism
Hypothyroidism
0.180 Biomarker disease BEFREE Fetomaternal Pit-1 deficiency resulted in unmitigated fetal hypothyroidism that unmasked thyroid hormone as a potent endogenous drive of fetal maturation and revealed placental transfer of maternal T4 as a rescue mechanism for infants with congenital hypothyroidism, preventing fetal and neonatal symptoms of thyroid deficiency and safeguarding developmental potential. 7593413 1995
CUI: C0020676
Disease: Hypothyroidism
Hypothyroidism
0.180 Biomarker disease HPO