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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
Aromatase deficiency
|
0.800 |
GeneticVariation
|
disease |
UNIPROT |
Effect of testosterone and estradiol in a man with aromatase deficiency.
|
9211678 |
1997 |
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 |
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 |
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 |
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 |
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 |
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 |
Aromatase deficiency
|
0.800 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
Aromatase deficiency
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
Aromatase deficiency
|
0.800 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|