STAR, steroidogenic acute regulatory protein, 6770

N. diseases: 177; N. variants: 39
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0342474
Disease: Lipoid congenital adrenal hyperplasia
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
CUI: C0342474
Disease: Lipoid congenital adrenal hyperplasia
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
CUI: C0342474
Disease: Lipoid congenital adrenal hyperplasia
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
CUI: C0342474
Disease: Lipoid congenital adrenal hyperplasia
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
CUI: C0342474
Disease: Lipoid congenital adrenal hyperplasia
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
CUI: C0342474
Disease: Lipoid congenital adrenal hyperplasia
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
CUI: C0342474
Disease: Lipoid congenital adrenal hyperplasia
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
CUI: C0342474
Disease: Lipoid congenital adrenal hyperplasia
Lipoid congenital adrenal hyperplasia 		0.800 CausalMutation disease CLINVAR Primary Adrenocortical Insufficiency Case Series: Genetic Etiologies More Common than Expected. 26650942 2016
CUI: C0342474
Disease: Lipoid congenital adrenal hyperplasia
Lipoid congenital adrenal hyperplasia 		0.800 CausalMutation disease CLINVAR Lipoid congenital adrenal hyperplasia due to STAR mutations in a Caucasian patient. 27047663 2016
CUI: C0342474
Disease: Lipoid congenital adrenal hyperplasia
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
CUI: C0342474
Disease: Lipoid congenital adrenal hyperplasia
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
CUI: C0342474
Disease: Lipoid congenital adrenal hyperplasia
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
CUI: C0342474
Disease: Lipoid congenital adrenal hyperplasia
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
CUI: C0342474
Disease: Lipoid congenital adrenal hyperplasia
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
CUI: C0342474
Disease: Lipoid congenital adrenal hyperplasia
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
CUI: C0342474
Disease: Lipoid congenital adrenal hyperplasia
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
CUI: C0342474
Disease: Lipoid congenital adrenal hyperplasia
Lipoid congenital adrenal hyperplasia 		0.800 GeneticVariation disease CLINVAR Phenotypic variability in congenital lipoid adrenal hyperplasia. 24953586 2014
CUI: C0342474
Disease: Lipoid congenital adrenal hyperplasia
Lipoid congenital adrenal hyperplasia 		0.800 GeneticVariation disease BEFREE Inactivating StAR mutations cause lipoid congenital adrenal hyperplasia. 23920000 2013
CUI: C0342474
Disease: Lipoid congenital adrenal hyperplasia
Lipoid congenital adrenal hyperplasia 		0.800 GeneticVariation disease CLINVAR p.R182C mutation in Korean twin with congenital lipoid adrenal hyperplasia. 24904850 2013
CUI: C0342474
Disease: Lipoid congenital adrenal hyperplasia
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
CUI: C0342474
Disease: Lipoid congenital adrenal hyperplasia
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
CUI: C0342474
Disease: Lipoid congenital adrenal hyperplasia
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
CUI: C0342474
Disease: Lipoid congenital adrenal hyperplasia
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
CUI: C0342474
Disease: Lipoid congenital adrenal hyperplasia
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
CUI: C0342474
Disease: Lipoid congenital adrenal hyperplasia
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