HGH1, HGH1 homolog, 51236

N. diseases: 6; N. variants: 0
Disease: Isolated somatotropin deficiency ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3714796
Disease: Isolated somatotropin deficiency
Isolated somatotropin deficiency 		0.020 GeneticVariation disease BEFREE Familial isolated growth hormone deficiency (IGHD) type IA is characterized by a complete absence of human growth hormone (hGH) resulting in most cases from either a 6.7 or 7.7 kb deletion of DNA containing the hGH-1 gene. 1424197 1992
CUI: C3714796
Disease: Isolated somatotropin deficiency
Isolated somatotropin deficiency 		0.020 GeneticVariation disease BEFREE These data are important for prenatal diagnosis of at-risk pregnancies and for families at risk for recurrence and underline clearly the fact that the hGH-I gene deletion represents a common cause for growth hormone deficiency associated with severe growth retardation (height less than -4.5 SD score). 1603635 1992