Disease: Aromatase deficiency ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1960539
Disease: Aromatase deficiency
Aromatase deficiency 		0.800 GeneticVariation disease BEFREE Notably, mutations in AR, SRD5A2, MAMLD1, WT1, and MAP3K1 have led to hypospadias and only one CYP19A1 mutation caused aromatase deficiency was reported to date. 30550360 2019
CUI: C1960539
Disease: Aromatase deficiency
Aromatase deficiency 		0.800 Biomarker disease BEFREE Aromatase deficiency causes obesity and insulin resistance in aromatase knockout mice and humans with rare mutations of the aromatase gene (CYP19). 30920624 2019
CUI: C1960539
Disease: Aromatase deficiency
Aromatase deficiency 		0.800 GeneticVariation disease BEFREE Aromatase Deficiency due to a Homozygous CYP19A1 Mutation in a 46,XX Egyptian Patient with Ambiguous Genitalia. 29324451 2017
CUI: C1960539
Disease: Aromatase deficiency
Aromatase deficiency 		0.800 GeneticVariation disease BEFREE Since 1991, several molecular CYP19A1 gene alterations associated with aromatase deficiency have been described in both sexes. 25415177 2015
CUI: C1960539
Disease: Aromatase deficiency
Aromatase deficiency 		0.800 GeneticVariation disease BEFREE Splicing CYP19 gene variants causing aromatase deficiency in 46,XX disorder of sexual development (DSD) patients have been reported in a few cases. 26279340 2015
CUI: C1960539
Disease: Aromatase deficiency
Aromatase deficiency 		0.800 GeneticVariation disease BEFREE The man with clinical features of aromatase deficiency had novel compound heterozygous CYP19A1 mutations (Y81C and L451P) that were not found in 50 unrelated persons. 25301327 2015
CUI: C1960539
Disease: Aromatase deficiency
Aromatase deficiency 		0.800 AlteredExpression disease BEFREE To date over 20 subjects have been reported with aromatase deficiency which may manifest during fetal life with maternal virilization and virilization of the external genitalia of a female fetus due to low aromatase activity in the steroid metabolizing fetal-placental unit and thus high androgen levels. 24705274 2014
CUI: C1960539
Disease: Aromatase deficiency
Aromatase deficiency 		0.800 GeneticVariation disease UNIPROT To date over 20 subjects have been reported with aromatase deficiency which may manifest during fetal life with maternal virilization and virilization of the external genitalia of a female fetus due to low aromatase activity in the steroid metabolizing fetal-placental unit and thus high androgen levels. 24705274 2014
CUI: C1960539
Disease: Aromatase deficiency
Aromatase deficiency 		0.800 GermlineCausalMutation disease ORPHANET Aromatase deficiency owing to a functional variant in the placenta promoter and a novel missense mutation in the CYP19A1 gene. 21521281 2011
CUI: C1960539
Disease: Aromatase deficiency
Aromatase deficiency 		0.800 GeneticVariation disease BEFREE Aromatase deficiency owing to a functional variant in the placenta promoter and a novel missense mutation in the CYP19A1 gene. 21521281 2011
CUI: C1960539
Disease: Aromatase deficiency
Aromatase deficiency 		0.800 GeneticVariation disease BEFREE This new case of aromatase deficiency sheds new light on the heterogeneity of mutations in the CYP19A1 gene causing loss of function of the aromatase enzyme. 17547681 2007
CUI: C1960539
Disease: Aromatase deficiency
Aromatase deficiency 		0.800 Biomarker disease BEFREE This new case of aromatase deficiency confirms previous data on bone maturation and mineralization, and it reveals a high risk for the precocious development of cardiovascular disease in young aromatase-deficient men. 14715828 2004
CUI: C1960539
Disease: Aromatase deficiency
Aromatase deficiency 		0.800 Biomarker disease CTD_human Aromatase deficiency caused by a novel P450arom gene mutation: impact of absent estrogen production on serum gonadotropin concentration in a boy. 10566648 1999
CUI: C1960539
Disease: Aromatase deficiency
Aromatase deficiency 		0.800 GeneticVariation disease UNIPROT Effect of testosterone and estradiol in a man with aromatase deficiency. 9211678 1997
CUI: C1960539
Disease: Aromatase deficiency
Aromatase deficiency 		0.800 Biomarker disease CTD_human Aromatase deficiency in a female who is compound heterozygote for two new point mutations in the P450arom gene: impact of estrogens on hypergonadotropic hypogonadism, multicystic ovaries, and bone densitometry in childhood. 9177373 1997
CUI: C1960539
Disease: Aromatase deficiency
Aromatase deficiency 		0.800 GeneticVariation disease UNIPROT Aromatase deficiency in male and female siblings caused by a novel mutation and the physiological role of estrogens. 8530621 1995
CUI: C1960539
Disease: Aromatase deficiency
Aromatase deficiency 		0.800 GeneticVariation disease BEFREE We report the features of a new syndrome of aromatase deficiency due to molecular defects in the CYP19 (P450arom) gene in a 46,XX female. 8200927 1994
CUI: C1960539
Disease: Aromatase deficiency
Aromatase deficiency 		0.800 GeneticVariation disease UNIPROT We identified two mutations in the CYP19 gene responsible for aromatase deficiency in an 18-year-old 46,XX female with ambiguous external genitalia at birth, primary amenorrhea and sexual infantilism, and polycystic ovaries. 8265607 1993
CUI: C1960539
Disease: Aromatase deficiency
Aromatase deficiency 		0.800 GeneticVariation disease BEFREE We identified two mutations in the CYP19 gene responsible for aromatase deficiency in an 18-year-old 46,XX female with ambiguous external genitalia at birth, primary amenorrhea and sexual infantilism, and polycystic ovaries. 8265607 1993
CUI: C1960539
Disease: Aromatase deficiency
Aromatase deficiency 		0.800 Biomarker disease CTD_human We identified two mutations in the CYP19 gene responsible for aromatase deficiency in an 18-year-old 46,XX female with ambiguous external genitalia at birth, primary amenorrhea and sexual infantilism, and polycystic ovaries. 8265607 1993
CUI: C1960539
Disease: Aromatase deficiency
Aromatase deficiency 		0.800 Biomarker disease GENOMICS_ENGLAND
CUI: C1960539
Disease: Aromatase deficiency
Aromatase deficiency 		0.800 CausalMutation disease CLINVAR
CUI: C1960539
Disease: Aromatase deficiency
Aromatase deficiency 		0.800 Biomarker disease GENOMICS_ENGLAND