Lipoid congenital adrenal hyperplasia
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
We report a case of CLAH caused by mutations in the steroidogenic acute regulatory protein (StAR) gene.
|
30400872 |
2018 |
Lipoid congenital adrenal hyperplasia
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
A case report of pedigree of a homozygous mutation of the steroidogenic acute regulatory protein causing lipoid congenital adrenal hyperplasia.
|
28538409 |
2017 |
Lipoid congenital adrenal hyperplasia
|
0.800 |
GeneticVariation
|
disease |
CLINVAR |
Mutation Spectrum of STAR and a Founder Effect of the p.Q258* in Korean Patients with Congenital Lipoid Adrenal Hyperplasia.
|
28467518 |
2017 |
Lipoid congenital adrenal hyperplasia
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Severe StAR mutations cause classic congenital lipoid adrenal hyperplasia, characterized by lipid accumulation in the adrenal, adrenal insufficiency, and disordered sexual development in 46,XY individuals.
|
26960203 |
2017 |
Lipoid congenital adrenal hyperplasia
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
STAR mutations resulting in lipoid congenital adrenal hyperplasia should be considered all over the world in the differential diagnosis of newborn babies and infants with primary adrenal insufficiency.
|
28637490 |
2017 |
Lipoid congenital adrenal hyperplasia
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
The <i>STAR</i> p.Q258* mutation is the most common in Korean patients with CLAH, suggesting a founder effect.
|
28467518 |
2017 |
Lipoid congenital adrenal hyperplasia
|
0.800 |
GeneticVariation
|
disease |
CLINVAR |
Identification of five novel STAR variants in ten Chinese patients with congenital lipoid adrenal hyperplasia.
|
26827627 |
2016 |
Lipoid congenital adrenal hyperplasia
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Primary Adrenocortical Insufficiency Case Series: Genetic Etiologies More Common than Expected.
|
26650942 |
2016 |
Lipoid congenital adrenal hyperplasia
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Lipoid congenital adrenal hyperplasia due to STAR mutations in a Caucasian patient.
|
27047663 |
2016 |
Lipoid congenital adrenal hyperplasia
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Five were homozygous for the previously reported p.R188C STAR mutation causing nonclassic lipoid congenital adrenal hyperplasia, representing the largest cohort of such patients from a single geographic area.
|
26650942 |
2016 |
Lipoid congenital adrenal hyperplasia
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Steroidogenic acute regulatory protein (StAR) mutations are the most frequent aetiologies of congenital lipoid adrenal hyperplasia (CLAH).
|
27698074 |
2016 |
Lipoid congenital adrenal hyperplasia
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
We performed clinical retrospective review and genetic analysis of the STAR gene in ten unrelated Chinese phenotypic female patients who were clinically diagnosed with CLAH and followed up in our hospital from 2006 to 2015.
|
26827627 |
2016 |
Lipoid congenital adrenal hyperplasia
|
0.800 |
GeneticVariation
|
disease |
CLINVAR |
Rare Causes of Primary Adrenal Insufficiency: Genetic and Clinical Characterization of a Large Nationwide Cohort.
|
26523528 |
2016 |
Lipoid congenital adrenal hyperplasia
|
0.800 |
GeneticVariation
|
disease |
CLINVAR |
RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease.
|
25525159 |
2015 |
Lipoid congenital adrenal hyperplasia
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
STAR splicing mutations cause the severe phenotype of lipoid congenital adrenal hyperplasia: insights from a novel splice mutation and review of reported cases.
|
23859637 |
2014 |
Lipoid congenital adrenal hyperplasia
|
0.800 |
Biomarker
|
disease |
BEFREE |
Loss of StAR function causes lipoid congenital adrenal hyperplasia (LCAH) which is characterized by impaired synthesis of adrenal and gonadal steroids causing adrenal insufficiency, 46,XY disorder of sex development (DSD) and failure of pubertal development.
|
23859637 |
2014 |
Lipoid congenital adrenal hyperplasia
|
0.800 |
GeneticVariation
|
disease |
CLINVAR |
Phenotypic variability in congenital lipoid adrenal hyperplasia.
|
24953586 |
2014 |
Lipoid congenital adrenal hyperplasia
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Inactivating StAR mutations cause lipoid congenital adrenal hyperplasia.
|
23920000 |
2013 |
Lipoid congenital adrenal hyperplasia
|
0.800 |
GeneticVariation
|
disease |
CLINVAR |
p.R182C mutation in Korean twin with congenital lipoid adrenal hyperplasia.
|
24904850 |
2013 |
Lipoid congenital adrenal hyperplasia
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Identification of novel mutations in STAR gene in patients with lipoid congenital adrenal hyperplasia: a first report from India.
|
23748066 |
2013 |
Lipoid congenital adrenal hyperplasia
|
0.800 |
GeneticVariation
|
disease |
CLINVAR |
The novel mutation p.Trp147Arg of the steroidogenic acute regulatory protein causes classic lipoid congenital adrenal hyperplasia with adrenal insufficiency and 46,XY disorder of sex development.
|
23920000 |
2013 |
Lipoid congenital adrenal hyperplasia
|
0.800 |
GeneticVariation
|
disease |
CLINVAR |
Congenital lipoid adrenal hyperplasia (a rare form of adrenal insufficiency and ambiguous genitalia) caused by a novel mutation of the steroidogenic acute regulatory protein gene.
|
22083155 |
2012 |
Lipoid congenital adrenal hyperplasia
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Alu Sx repeat-induced homozygous deletion of the StAR gene causes lipoid congenital adrenal hyperplasia.
|
22249004 |
2012 |
Lipoid congenital adrenal hyperplasia
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Congenital lipoid adrenal hyperplasia (a rare form of adrenal insufficiency and ambiguous genitalia) caused by a novel mutation of the steroidogenic acute regulatory protein gene.
|
22083155 |
2012 |
Lipoid congenital adrenal hyperplasia
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Now genetic and phenotypic variations have been elucidated in pregnenolone synthesis defects; mutations in the CYP11A1 gene encoding cholesterol side-chain cleavage enzyme (SCC) also cause disordered pregnenolone synthesis, and STAR mutations do not necessarily results in typical CLAH.
|
23330251 |
2012 |