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 Partial androgen insensitivity and correlations with the predicted three dimensional structure of the androgen receptor ligand-binding domain. 9607727 1998
CUI: C0268301
Disease: Reifenstein Syndrome
Reifenstein Syndrome 		0.800 GeneticVariation disease BEFREE We conclude that the novel R840 mutation in the androgen receptor is the cause of partial androgen insensitivity syndrome in this Brazilian family. 10502786 1999
CUI: C0268301
Disease: Reifenstein Syndrome
Reifenstein Syndrome 		0.800 GeneticVariation disease UNIPROT Detection of point mutations in the androgen receptor gene using non-isotopic single strand conformation polymorphism analysis. German Collaborative Intersex Study Group. 7981687 1994
CUI: C0268301
Disease: Reifenstein Syndrome
Reifenstein Syndrome 		0.800 GeneticVariation disease BEFREE Point mutations detected in the androgen receptor gene of three men with partial androgen insensitivity syndrome. 1424203 1992
CUI: C0268301
Disease: Reifenstein Syndrome
Reifenstein Syndrome 		0.800 GeneticVariation disease UNIPROT Molecular characterization of the androgen receptor gene in boys with hypospadias. 8033918 1994
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 Thus a more complete understanding of the functional consequences of androgen receptor mutations may provide a more rational basis for gender assignment in PAIS. 8824883 1996
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 In the androgen receptor from the patients with Reifenstein syndrome, in which this alanine is converted to a threonine, wild-type receptor properties can be restored by exchanging an additional threonine at position 602 to an alanine. 8246999 1993
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 To our knowledge this is the first documentation of successful treatment in a patient with PAIS and a point mutation in the DNA-binding domain of the androgen receptor. 9543136 1998
CUI: C0268301
Disease: Reifenstein Syndrome
Reifenstein Syndrome 		0.800 GeneticVariation disease BEFREE Using engineered or naturally occurring androgen receptor mutants that are responsible for complete or partial androgen insensitivity syndromes, we defined the subregions involved in the cross-talk of the androgen receptor with the AP-1 factors. 9886845 1999
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 GeneticVariation disease UNIPROT Androgen receptor defects: historical, clinical, and molecular perspectives. 7671849 1995
CUI: C0268301
Disease: Reifenstein Syndrome
Reifenstein Syndrome 		0.800 GeneticVariation disease UNIPROT Single strand conformation polymorphism analysis of androgen receptor gene mutations in patients with androgen insensitivity syndromes: application for diagnosis, genetic counseling, and therapy. 8325950 1993
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 UNIPROT Mutations in the ligand-binding domain of the androgen receptor gene cluster in two regions of the gene. 1430233 1992
CUI: C0268301
Disease: Reifenstein Syndrome
Reifenstein Syndrome 		0.800 GeneticVariation disease BEFREE Molecular prenatal diagnosis of partial androgen insensitivity syndrome based on the Hind III polymorphism of the androgen receptor gene. 7910529 1994
CUI: C0268301
Disease: Reifenstein Syndrome
Reifenstein Syndrome 		0.800 GeneticVariation disease UNIPROT To our knowledge this is the first documentation of successful treatment in a patient with PAIS and a point mutation in the DNA-binding domain of the androgen receptor. 9543136 1998
CUI: C0268301
Disease: Reifenstein Syndrome
Reifenstein Syndrome 		0.800 GeneticVariation disease UNIPROT Single amino acid substitution (840Arg-->His) in the hormone-binding domain of the androgen receptor leads to incomplete androgen insensitivity syndrome associated with a thermolabile androgen receptor. 8205256 1994
CUI: C0268301
Disease: Reifenstein Syndrome
Reifenstein Syndrome 		0.800 GeneticVariation disease BEFREE Schizophrenia and the androgen receptor gene: report of a sibship showing co-segregation with Reifenstein syndrome but no evidence for linkage in 23 multiply affected families. 8546149 1995
CUI: C0268301
Disease: Reifenstein Syndrome
Reifenstein Syndrome 		0.800 GeneticVariation disease UNIPROT Functional characterisation of mutations in the ligand-binding domain of the androgen receptor gene in patients with androgen insensitivity syndrome. 9856504 1998
CUI: C0268301
Disease: Reifenstein Syndrome
Reifenstein Syndrome 		0.800 GeneticVariation disease UNIPROT Eight novel mutations of the androgen receptor gene in patients with androgen insensitivity syndrome. 11587068 2001
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 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