Disease: Congenital hypoplasia of adrenal gland ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0220766
Disease: Congenital hypoplasia of adrenal gland
Congenital hypoplasia of adrenal gland 		0.400 GeneticVariation disease BEFREE In humans the DAX1 mutations cause congenital adrenal hypoplasia (AHC) and hypogonadotropic hypogonadism (HHG) in boys. 31280422 2019
CUI: C0220766
Disease: Congenital hypoplasia of adrenal gland
Congenital hypoplasia of adrenal gland 		0.400 Biomarker disease BEFREE <i>NR0B1-</i>related adrenal hypoplasia congenita is inherited in an X-linked manner. 29361664 2018
CUI: C0220766
Disease: Congenital hypoplasia of adrenal gland
Congenital hypoplasia of adrenal gland 		0.400 GeneticVariation disease BEFREE A novel de novo frameshift mutation in NR0B1 and low prenatal estriol in adrenal hypoplasia congenita. 30129976 2018
CUI: C0220766
Disease: Congenital hypoplasia of adrenal gland
Congenital hypoplasia of adrenal gland 		0.400 GeneticVariation disease BEFREE Mutations in NR0B1 lead to adrenal hypoplasia congenita (AHC), hypogonadotropic hypogonadism (HH) and azoospermia in men. 28741070 2017
CUI: C0220766
Disease: Congenital hypoplasia of adrenal gland
Congenital hypoplasia of adrenal gland 		0.400 GeneticVariation disease BEFREE A novel mutation in the NR0B1 gene in a family with monozygotic twin sisters and congenital adrenal hypoplasia affected children. 25402384 2016
CUI: C0220766
Disease: Congenital hypoplasia of adrenal gland
Congenital hypoplasia of adrenal gland 		0.400 Biomarker disease BEFREE CRISPR/Cas9-mediated Dax1 knockout in the monkey recapitulates human AHC-HH. 26464492 2015
CUI: C0220766
Disease: Congenital hypoplasia of adrenal gland
Congenital hypoplasia of adrenal gland 		0.400 Biomarker disease BEFREE To analyze the DAX1 (NR0B1) (dosage-sensitive sex reversal-adrenal hypoplasia congenita (AHC) critical region on the X chromosome gene 1) gene in two Chinese families with AHC and hypogonadotrophic hypogonadism (HHG). 25968435 2015
CUI: C0220766
Disease: Congenital hypoplasia of adrenal gland
Congenital hypoplasia of adrenal gland 		0.400 GeneticVariation disease BEFREE A novel mutation in the NR0B1 (DAX1) gene in a large family with two boys affected by congenital adrenal hypoplasia. 25079468 2015
CUI: C0220766
Disease: Congenital hypoplasia of adrenal gland
Congenital hypoplasia of adrenal gland 		0.400 GeneticVariation disease BEFREE This report describes the familial transmission of AHC over several generations and further expands the number of DAX1 mutations reported in the literature. 23512386 2014
CUI: C0220766
Disease: Congenital hypoplasia of adrenal gland
Congenital hypoplasia of adrenal gland 		0.400 GeneticVariation disease BEFREE We proposed the diagnosis of congenital adrenal hypoplasia in this patient and identified a hemizygous mutation (c.999_1000insCTCA, p.Leu335ThrfsX389) in exon 1 of the DAX1 gene. 24197767 2014
CUI: C0220766
Disease: Congenital hypoplasia of adrenal gland
Congenital hypoplasia of adrenal gland 		0.400 GeneticVariation disease BEFREE Patients with DAX-1 gene mutations on chromosome Xp21 usually present with adrenal hypoplasia congenita and hypogonadotropic hypogonadism. 23585174 2013
CUI: C0220766
Disease: Congenital hypoplasia of adrenal gland
Congenital hypoplasia of adrenal gland 		0.400 GeneticVariation disease BEFREE Entire DAX1 gene deletion in an Indian boy with adrenal hypoplasia congenita. 23263975 2013
CUI: C0220766
Disease: Congenital hypoplasia of adrenal gland
Congenital hypoplasia of adrenal gland 		0.400 GeneticVariation disease BEFREE We hypothesize that the novel (p.Asp372del) DAX1 mutation might be able to cause a disruption of DAX1 function, and is probably involved in the development of AHC and HH in this patient. 23295288 2012
CUI: C0220766
Disease: Congenital hypoplasia of adrenal gland
Congenital hypoplasia of adrenal gland 		0.400 GeneticVariation disease BEFREE We analysed the evolution of hypothalamic-pituitary-testicular function of 8 boys with AHC due to NR0B1 mutations. 22761912 2012
CUI: C0220766
Disease: Congenital hypoplasia of adrenal gland
Congenital hypoplasia of adrenal gland 		0.400 GeneticVariation disease BEFREE A careful analysis of the pedigree of this family lead to the recognition of an X-linked inheritance pattern, with subsequent confirmation in a female heterozygous carrier of a DAX1 missense mutation c.1274G>T, (p.Arg425Ile).The diagnosis of this condition remains challenging in a developing country, since the manifestations of AHC overlap with those of the much more frequently occurring infections; darkening of the skin is difficult to evaluate and there is a lack of access to routine endocrinological testing. 21739173 2012
CUI: C0220766
Disease: Congenital hypoplasia of adrenal gland
Congenital hypoplasia of adrenal gland 		0.400 Biomarker disease BEFREE Genetic analysis of NR0B1 in congenital adrenal hypoplasia patients: identification of a rare regulatory variant resulting in congenital adrenal hypoplasia and hypogonadal hypogonadism without testicular carcinoma in situ. 23018754 2012
CUI: C0220766
Disease: Congenital hypoplasia of adrenal gland
Congenital hypoplasia of adrenal gland 		0.400 GeneticVariation disease BEFREE We proposed the diagnosis of adrenal hypoplasia congenita (AHC) in this patient and identified a hemizygous mutation (c.1130delAinsGT, p.E377GfsX12) in exon 1 of the NR0B1 gene. 22570964 2012
CUI: C0220766
Disease: Congenital hypoplasia of adrenal gland
Congenital hypoplasia of adrenal gland 		0.400 GeneticVariation disease BEFREE Birth after TESE-ICSI in a man with hypogonadotropic hypogonadism and congenital adrenal hypoplasia linked to a DAX-1 (NR0B1) mutation. 21227944 2011
CUI: C0220766
Disease: Congenital hypoplasia of adrenal gland
Congenital hypoplasia of adrenal gland 		0.400 GeneticVariation disease BEFREE Array CGH study confirmed the existence of a deletion in Xp21 of the genes responsible for DMD, GKD and the congenital adrenal hypoplasia (gene DAX1 or NROB1 gene: Xp21.3-21.2). 22308874 2011
CUI: C0220766
Disease: Congenital hypoplasia of adrenal gland
Congenital hypoplasia of adrenal gland 		0.400 GeneticVariation disease BEFREE In this study, we investigated the functional defects of DAX-1 caused by mutations identified in 3 unrelated Korean patients with adrenal hypoplasia congenita. 21632081 2011
CUI: C0220766
Disease: Congenital hypoplasia of adrenal gland
Congenital hypoplasia of adrenal gland 		0.400 GeneticVariation disease BEFREE Humans with DAX1 mutations develop an X-linked syndrome referred to as adrenal hypoplasia congenita (AHC). 21672607 2011
CUI: C0220766
Disease: Congenital hypoplasia of adrenal gland
Congenital hypoplasia of adrenal gland 		0.400 GeneticVariation disease BEFREE These findings provide insight into the molecular events by which DAX1 mutations influence the hypothalamus-pituitary-gonadal and hypothalamus-pituitary-adrenal axis and lead to AHC and hypogonadotropic hypogonadism. 20573681 2010
CUI: C0220766
Disease: Congenital hypoplasia of adrenal gland
Congenital hypoplasia of adrenal gland 		0.400 GeneticVariation disease BEFREE Clinical and genetic heterogeneity of congenital adrenal hypoplasia due to NR0B1 gene mutations. 19508677 2010
CUI: C0220766
Disease: Congenital hypoplasia of adrenal gland
Congenital hypoplasia of adrenal gland 		0.400 GeneticVariation disease BEFREE A mutation in the DAX1 gene was found (Trp291Arg) and a diagnosis of AHC was made. 18414894 2009
CUI: C0220766
Disease: Congenital hypoplasia of adrenal gland
Congenital hypoplasia of adrenal gland 		0.400 Biomarker disease BEFREE DAX-1 (dosage-sensitive sex reversal adrenal hypoplasia congenital critical region on X chromosome, gene 1) is an atypical member of the nuclear receptor family and acts as a corepressor of a number of nuclear receptors. 19651776 2009