loading...| Preferred Name |
Androgen-Insensitivity Syndrome |
|
| Synonyms |
Reifensteins Syndrome |
|
| Definitions |
A disorder of sexual development transmitted as an X-linked recessive trait. These patients have a karyotype of 46,XY with end-organ resistance to androgen due to mutations in the androgen receptor (RECEPTORS, ANDROGEN) gene. Severity of the defect in receptor quantity or quality correlates with their phenotypes. In these genetic males, the phenotypic spectrum ranges from those with normal female external genitalia, through those with genital ambiguity as in Reifenstein Syndrome, to that of a normal male with INFERTILITY. |
|
| ID |
http://purl.bioontology.org/ontology/MESH/D013734 |
|
| altLabel |
Reifensteins Syndrome Receptor Deficiency, Dihydrotestosterone Insensitivity Syndrome, Androgen Deficiencies, AR Partial Androgen Insensitivities Insensitivity Syndromes, Androgen Resistance Syndromes, Androgen Deficiencies, Androgen Receptor Reifenstein's Syndrome Deficiencies, Dihydrotestosterone Receptor Testicular Feminizations Resistance Syndrome, Androgen Androgen-Insensitivity Syndrome, Complete Deficiency, Dihydrotestosterone Receptor Androgen-Insensitivity Syndromes, Complete Insensitivity, Partial Androgen Complete Androgen-Insensitivity Syndromes Androgen Insensitivity Syndrome Testicular Feminization Syndromes Androgen Insensitivities, Partial Insensitivities, Partial Androgen Testicular Feminization Androgen Resistance Syndrome Feminizations, Testicular DHTR Deficiency Deficiency, AR Androgen Insensitivity Syndromes Dihydrotestosterone Receptor Deficiency Reifenstein Syndrome Androgen Insensitivity, Partial Partial Androgen-Insensitivity Syndromes Feminization, Testicular Feminization Syndrome, Testicular Androgen-Insensitivity Syndromes, Partial Androgen Resistance Syndromes Androgen Insensitivity Syndrome, Partial Androgen-Insensitivity Syndrome, Partial Complete Androgen-Insensitivity Syndrome Deficiency, Androgen Receptor Deficiency, DHTR Dihydrotestosterone Receptor Deficiencies Receptor Deficiencies, Dihydrotestosterone Feminization Syndromes, Testicular Receptor Deficiency, Androgen Receptor Deficiencies, Androgen Partial Androgen-Insensitivity Syndrome Androgen Insensitivity Syndrome, Complete Testicular Feminization Syndrome Partial Androgen Insensitivity DHTR Deficiencies Androgen Receptor Deficiency AR Deficiency Male Pseudohermaphroditism Due to Androgen Insensitivity Androgen Receptor Deficiencies Deficiencies, DHTR AR Deficiencies Androgen-Insensitivity Syndromes |
|
| AN |
check the tag MALE |
|
| AQL |
BL CF CI CL CO DG DH DI DT EC EH EM EN EP ET GE HI IM ME MI MO NU PA PC PP PS PX RH RT SU TH UR VE VI |
|
| cui |
C2713546 C0039585 C0268301 C0936016 |
|
| DC |
1 |
|
| definition |
A disorder of sexual development transmitted as an X-linked recessive trait. These patients have a karyotype of 46,XY with end-organ resistance to androgen due to mutations in the androgen receptor (RECEPTORS, ANDROGEN) gene. Severity of the defect in receptor quantity or quality correlates with their phenotypes. In these genetic males, the phenotypic spectrum ranges from those with normal female external genitalia, through those with genital ambiguity as in Reifenstein Syndrome, to that of a normal male with INFERTILITY. A disorder also known as partial androgen insensitivity syndrome (PAIS). These patients exhibit partial resistance to androgenic and metabolic effects of TESTOSTERONE. A disorder also known as complete androgen insensitivity syndrome (CAIS). The 46,XY genetic male totally lacks androgen responsiveness in the target organs thus exhibits a female phenotype. |
|
| DX |
19700101 |
|
| HN |
2002(1968) |
|
| Inverse of AQ |
http://purl.bioontology.org/ontology/MESH/Q000097 http://purl.bioontology.org/ontology/MESH/Q000178 http://purl.bioontology.org/ontology/MESH/Q000175 http://purl.bioontology.org/ontology/MESH/Q000628 http://purl.bioontology.org/ontology/MESH/Q000276 http://purl.bioontology.org/ontology/MESH/Q000134 http://purl.bioontology.org/ontology/MESH/Q000139 http://purl.bioontology.org/ontology/MESH/Q000266 http://purl.bioontology.org/ontology/MESH/Q000378 http://purl.bioontology.org/ontology/MESH/Q000517 http://purl.bioontology.org/ontology/MESH/Q000662 http://purl.bioontology.org/ontology/MESH/Q000469 http://purl.bioontology.org/ontology/MESH/Q000150 http://purl.bioontology.org/ontology/MESH/Q000821 http://purl.bioontology.org/ontology/MESH/Q000191 http://purl.bioontology.org/ontology/MESH/Q000196 http://purl.bioontology.org/ontology/MESH/Q000473 http://purl.bioontology.org/ontology/MESH/Q000145 http://purl.bioontology.org/ontology/MESH/Q000382 http://purl.bioontology.org/ontology/MESH/Q000451 http://purl.bioontology.org/ontology/MESH/Q000453 http://purl.bioontology.org/ontology/MESH/Q000534 http://purl.bioontology.org/ontology/MESH/Q000532 http://purl.bioontology.org/ontology/MESH/Q000503 http://purl.bioontology.org/ontology/MESH/Q000188 http://purl.bioontology.org/ontology/MESH/Q000235 http://purl.bioontology.org/ontology/MESH/Q000201 http://purl.bioontology.org/ontology/MESH/Q000209 http://purl.bioontology.org/ontology/MESH/Q000208 http://purl.bioontology.org/ontology/MESH/Q000601 http://purl.bioontology.org/ontology/MESH/Q000000981 http://purl.bioontology.org/ontology/MESH/Q000652 |
|
| Machine permutation |
2002; see TESTICULAR FEMINIZATION (1970-2001) |
|
| Mapped from | ||
| MDA |
19990101 |
|
| MMR |
20210630 |
|
| MN |
C12.050.351.875.253.096.500 C12.200.706.316.096.500 C12.800.316.096.500 C19.391.119.096.500 C16.131.939.316.096.500 C16.320.322.061 |
|
| notation |
D013734 |
|
| prefLabel |
Androgen-Insensitivity Syndrome |
|
| TERMUI |
T426480 T811924 T426481 T839576 T839575 T812205 T040334 T750927 T040333 T424067 T781892 T424068 T750926 T781893 T811923 |
|
| TH |
OMIM (2013) NLM (2002) NLM (1968) NLM (2012) NLM (2010) GHR (2014) NLM (1998) ORD (2010) |
|
| tui |
T047 |
|
| subClassOf |