PROP1, PROP paired-like homeobox 1, 5626

N. diseases: 117; N. variants: 30
Disease: Dwarfism ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0013336
Disease: Dwarfism
Dwarfism 		0.200 GeneticVariation disease BEFREE In mammals, this is exemplified in Ames dwarf (Prop1<sup>df/df</sup>) mice, which have a 40%-60% increase in longevity (males and females, respectively) due to their recessive Prop1 loss-of-function mutation that results in lack of growth hormone (GH), thyroid-stimulating hormone and prolactin. 28452585 2017
CUI: C0013336
Disease: Dwarfism
Dwarfism 		0.200 GeneticVariation disease BEFREE Endocrine control of mammalian longevity was first reported in Ames dwarf (Prop1<sup>df</sup>) mice, which are long-lived due to a recessive Prop1 loss-of-function mutation resulting in deficiency of growth hormone (GH), thyroid-stimulating hormone, and prolactin. 28425851 2017
CUI: C0013336
Disease: Dwarfism
Dwarfism 		0.200 GeneticVariation disease BEFREE Ames dwarf (Prop1 (df/df) ) mice are remarkably long-lived and exhibit many characteristics of delayed aging and extended healthspan. 24155868 2013
CUI: C0013336
Disease: Dwarfism
Dwarfism 		0.200 GeneticVariation disease BEFREE We report on the clinical and molecular characterization of the fourth complete PROP1 deletion in a girl with proportional short stature, combined pituitary hormone deficiency and a suprasellar mass mimicking a hypothalamic glioma. 23831233 2013
CUI: C0013336
Disease: Dwarfism
Dwarfism 		0.200 GeneticVariation disease BEFREE In 1988 we were able to prove that the etiology of the hereditary multiple pituitary deficiencies (MPHD) causing the dwarfism is due to a PROP-1 gene mutation, a pituitary transcription factor. 20679996 2010
CUI: C0013336
Disease: Dwarfism
Dwarfism 		0.200 GeneticVariation disease BEFREE In 1996, the mutation producing the Ames dwarf mouse (Prop-1(-/-)) was reported to increase lifespan. 19690401 2010
CUI: C0013336
Disease: Dwarfism
Dwarfism 		0.200 Biomarker disease BEFREE To determine the basis for this, we performed histological analysis of Pit1- and Prop1-deficient dwarf mouse pituitaries throughout fetal and postnatal development. 16556738 2006
CUI: C0013336
Disease: Dwarfism
Dwarfism 		0.200 Biomarker disease BEFREE Data derived from PROP1 deficient mice (Ames dwarfs) have revealed some of the underlying cellular mechanisms. 16794371 2006
CUI: C0013336
Disease: Dwarfism
Dwarfism 		0.200 GeneticVariation disease BEFREE The genetic etiology of dwarfism on the island of Krk is explained by a mutation in the PROP1 gene, responsible for the short stature. 16909451 2006
CUI: C0013336
Disease: Dwarfism
Dwarfism 		0.200 GeneticVariation disease BEFREE This report showed the deleterious effect of the recessive R73C mutation that affects a hot spot of the PROP1 gene and was associated with severe dwarfism, a lack of spontaneous puberty, and a high incidence of early onset of corticotroph deficiency. 15531542 2004
CUI: C0013336
Disease: Dwarfism
Dwarfism 		0.200 GeneticVariation disease BEFREE We performed molecular analyses of the PROP-1 gene in two siblings, born to consanguineous parents, who presented with short stature. 12519826 2003
CUI: C0013336
Disease: Dwarfism
Dwarfism 		0.200 GeneticVariation disease BEFREE Analysis of mZn-16 expression by RT-PCR showed that the mRNA is, produced at similar levels in normal and GH-deficient Ames dwarf (Prop-1 <df-/->) mouse pituitaries at postnatal day 1. 10687855 2000
CUI: C0013336
Disease: Dwarfism
Dwarfism 		0.200 Biomarker disease HPO