Disease: Congenital hypoplasia of adrenal gland ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs387907373
rs387907373
Entrez Id: 190
Gene Symbol: NR0B1
NR0B1
CUI: C0220766
Disease:
Congenital hypoplasia of adrenal gland 		0.010 GeneticVariation 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