AR, androgen receptor, 367

N. diseases: 854; N. variants: 163
Disease: Reifenstein Syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0268301
Disease: Reifenstein Syndrome
Reifenstein Syndrome 		0.800 GeneticVariation disease BEFREE In the present study, we performed microarray analysis for genital skin fibroblasts obtained from four boys with buried penis (the control individuals) and a patient with partial androgen insensitivity syndrome (PAIS) due to a hypomorphic mutation in AR (the PAIS patient). 30787207 2019
CUI: C0268301
Disease: Reifenstein Syndrome
Reifenstein Syndrome 		0.800 GeneticVariation disease BEFREE Although partial androgen insensitivity syndrome (PAIS) is caused by attenuated responsiveness to androgens, androgen receptor gene (AR) mutations on the coding regions and their splice sites have been identified only in <25% of patients with a diagnosis of PAIS. 29396419 2018
CUI: C0268301
Disease: Reifenstein Syndrome
Reifenstein Syndrome 		0.800 Biomarker disease BEFREE Predicting puberty in partial androgen insensitivity syndrome: Use of clinical and functional androgen receptor indices. 30316867 2018
CUI: C0268301
Disease: Reifenstein Syndrome
Reifenstein Syndrome 		0.800 GeneticVariation disease BEFREE In this study, we report two patients with AR allelic variants in heterozygous (c.382G>T and c.1769-1G>C) causing a partial AIS (PAIS) phenotype. 29267169 2018
CUI: C0268301
Disease: Reifenstein Syndrome
Reifenstein Syndrome 		0.800 GeneticVariation disease BEFREE Partial androgen insensitivity syndrome (PAIS) developed in this case, probably because of the presence of the heterozygous AR mutation and random X- inactivation of the healthy allele. 28456808 2017
CUI: C0268301
Disease: Reifenstein Syndrome
Reifenstein Syndrome 		0.800 GeneticVariation disease BEFREE Three patients presented Klinefelter syndrome and three a partial androgen insensitivity syndrome (PAIS) as a result of p.Ala646Asp and p.Ala45Gly mutations of the androgen receptor gene. 26845730 2016
CUI: C0268301
Disease: Reifenstein Syndrome
Reifenstein Syndrome 		0.800 GeneticVariation disease BEFREE In boys with suspected partial androgen insensitivity syndrome (PAIS), systematic evidence that supports the long-term prognostic value of identifying a mutation in the androgen receptor gene (AR) is lacking. 27403927 2016
CUI: C0268301
Disease: Reifenstein Syndrome
Reifenstein Syndrome 		0.800 GeneticVariation disease BEFREE Only approximately 85% of patients with a clinical diagnosis complete androgen insensitivity syndrome and less than 30% with partial androgen insensitivity syndrome can be explained by inactivating mutations in the androgen receptor (AR) gene. 27583472 2016
CUI: C0268301
Disease: Reifenstein Syndrome
Reifenstein Syndrome 		0.800 GeneticVariation disease BEFREE However, AR gene mutations are found in less than a third of PAIS cases. 27087292 2016
CUI: C0268301
Disease: Reifenstein Syndrome
Reifenstein Syndrome 		0.800 GeneticVariation disease BEFREE The diagnosis of partial androgen insensitivity syndrome (PAIS) should be reserved for infants with a pathogenic androgen receptor gene (AR) mutation. 24366239 2014
CUI: C0268301
Disease: Reifenstein Syndrome
Reifenstein Syndrome 		0.800 GeneticVariation disease BEFREE Androgen receptor (AR) gene mutations are the most frequent cause of 46,XY disorders of sex development (DSD), and are associated with a variety of phenotypes ranging from phenotypic women (Complete Androgen Insensitivity Syndrome or CAIS) to milder degrees of undervirilisation (Partial Androgen Insensitivity Syndrome or PAIS) or men with infertility only (Mild Androgen Insensitivity Syndrome or MAIS). 24186597 2013
CUI: C0268301
Disease: Reifenstein Syndrome
Reifenstein Syndrome 		0.800 GeneticVariation disease BEFREE Retrospective evaluation of 14 male patients with partial androgen insensitivity syndrome (PAIS) with verified androgen receptor (AR) mutations. 22412043 2012
CUI: C0268301
Disease: Reifenstein Syndrome
Reifenstein Syndrome 		0.800 GeneticVariation disease BEFREE The patient presented neonatally with 46,XY DSD and was diagnosed as partial androgen insensitivity syndrome carrying a disease causing AR mutation (p.Q798E). 20410220 2010
CUI: C0268301
Disease: Reifenstein Syndrome
Reifenstein Syndrome 		0.800 GeneticVariation disease BEFREE Mutations in the AR gene can be associated with isolated micropenis without other features of PAIS, such as hypospadias or gynecomastia. 20305676 2010
CUI: C0268301
Disease: Reifenstein Syndrome
Reifenstein Syndrome 		0.800 Biomarker disease BEFREE In XY newborns with normal/high plasma testosterone (T), partial androgen insensitivity syndrome (PAIS) is usually the first diagnosis evoked, which implies an androgen receptor (AR) defect. 20132346 2010
CUI: C0268301
Disease: Reifenstein Syndrome
Reifenstein Syndrome 		0.800 GeneticVariation disease BEFREE The patient with AR-I603N displays a partial androgen insensitivity syndrome phenotype, which is explained by somatic mosaicism. 19851057 2009
CUI: C0268301
Disease: Reifenstein Syndrome
Reifenstein Syndrome 		0.800 GeneticVariation disease BEFREE Mutational analysis of the androgen receptor gene in two Indian families with partial androgen insensitivity syndrome. 20333878 2009
CUI: C0268301
Disease: Reifenstein Syndrome
Reifenstein Syndrome 		0.800 GeneticVariation disease BEFREE There is little information on the molecular basis of intrafamilial and inter-familial phenotypic heterogeneity with the same androgen receptor (AR) mutation in patients with partial androgen insensitivity syndrome. 19601939 2009
CUI: C0268301
Disease: Reifenstein Syndrome
Reifenstein Syndrome 		0.800 GeneticVariation disease BEFREE A novel mutation F826L in the human androgen receptor in partial androgen insensitivity syndrome; increased NH2-/COOH-terminal domain interaction and TIF2 co-activation. 18656523 2008
CUI: C0268301
Disease: Reifenstein Syndrome
Reifenstein Syndrome 		0.800 GeneticVariation disease BEFREE PAIS patient P4 has a novel amino acid substitution (Arg760Ser) in the AR ligand binding domain, which may impair ligand binding. 17937062 2007
CUI: C0268301
Disease: Reifenstein Syndrome
Reifenstein Syndrome 		0.800 GeneticVariation disease BEFREE Screening for SF-1 mutation should be performed in subjects with apparent partial androgen insensitivity syndrome and no mutation in the AR gene. 17488792 2007
CUI: C0268301
Disease: Reifenstein Syndrome
Reifenstein Syndrome 		0.800 GeneticVariation disease BEFREE Partial androgen insensitivity syndrome with thermolability in the androgen receptor. 16448442 2006
CUI: C0268301
Disease: Reifenstein Syndrome
Reifenstein Syndrome 		0.800 AlteredExpression disease BEFREE Transient transfections of an AR expression plasmid carrying the S432 F mutation using Chinese Hamster Ovary (CHO) cells revealed a significant partial reduction in transactivation of the co-transfected androgen responsive (ARE) (2)TATA luciferase reporter gene thus confirming PAIS. 16151980 2005
CUI: C0268301
Disease: Reifenstein Syndrome
Reifenstein Syndrome 		0.800 GeneticVariation disease BEFREE Various mutations in the androgen receptor (AR) are known to cause PAIS. 15963062 2005
CUI: C0268301
Disease: Reifenstein Syndrome
Reifenstein Syndrome 		0.800 GeneticVariation disease UNIPROT Concordance of phenotypic expression and gender identity in a large kindred with a mutation in the androgen receptor. 14756668 2004