MCID: AND015
MIFTS: 69

Androgen Insensitivity malady

Genetic diseases, Rare diseases, Endocrine diseases, Reproductive diseases categories

Aliases & Classifications for Androgen Insensitivity

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Androgen Insensitivity, Aliases & Descriptions:

Name: Androgen Insensitivity 45 10
Androgen Insensitivity Syndrome 9 63 19 41 21 11 43
Testicular Feminization 9 19 21 22 60
Androgen Resistance Syndrome 9 41 21 22
Dihydrotestosterone Receptor Deficiency 63 41 21
Testicular Feminization Syndrome 9 63 41
Androgen-Insensitivity Syndrome 9 20 60
Androgen Receptor Deficiency 41 21 60
Dhtr Deficiency 63 41 21
Ais 63 41 21
 
Goldberg-Maxwell Syndrome 9 41
Ar Deficiency 63 21
Tfm - Testicular Feminization Syndrome 63
Goldberg - Maxwell Syndrome 9
Androgen Insensitivity Nos 60
Feminisation - Testicular 9
Androgen Receptor 10
Morris Syndrome 41
Ar 37


Classifications:



External Ids:

OMIM45 300068
Disease Ontology9 DOID:4674
ICD9CM27 259.5, 259.51
ICD1025 E34.5

Summaries for Androgen Insensitivity

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NIH Rare Diseases:41 Androgen insensitivity syndrome is a condition that affects sexual development before birth and during puberty. people with this condition are genetically male, with one x chromosome and one y chromosome in each cell. because their bodies are unable to respond to certain male sex hormones (called androgens), they may have mostly female sex characteristics or signs of both male and female sexual development. androgen insensitivity syndrome is caused by mutations in the ar gene and is inherited in an x-linked recessive pattern. last updated: 3/30/2011

MalaCards based summary: Androgen Insensitivity, also known as androgen insensitivity syndrome, is related to muscular atrophy and androgen insensitivity, partial, with or without breast cancer, and has symptoms including abnormality of female internal genitalia, cryptorchidism and male pseudohermaphroditism. An important gene associated with Androgen Insensitivity is AR (androgen receptor), and among its related pathways are Nongenotropic Androgen signaling and Androgen Signaling. The compounds vinclozolin and vorozole have been mentioned in the context of this disorder. Affiliated tissues include testes, prostate and breast, and related mouse phenotypes are reproductive system and endocrine/exocrine gland.

Disease Ontology:9 A testicular disease and hermaphroditism that is characterized by the partial or complete inability of the cell to respond to androgens in individuals with a karyotype of 46,xy resulting in female physical traits but male genetic makeup.

Genetics Home Reference:21 Androgen insensitivity syndrome is a condition that affects sexual development before birth and during puberty. People with this condition are genetically male, with one X chromosome and one Y chromosome in each cell. Because their bodies are unable to respond to certain male sex hormones (called androgens), they may have mostly female sex characteristics or signs of both male and female sexual development.

OMIM:45 The androgen insensitivity syndrome is an X-linked recessive disorder in which affected males have female external... (300068) more...

Wikipedia:63 Androgen insensitivity syndrome (AIS) is a condition that results in the partial or complete inability... more...

GeneReviews summary for androgen

Related Diseases for Androgen Insensitivity

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Diseases related to Androgen Insensitivity via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50)    (show all 4245)
idRelated DiseaseScoreTop Affiliating Genes
1muscular atrophy31.8AR
2androgen insensitivity, partial, with or without breast cancer31.5CYP19A1, SHBG, AR
3complete androgen insensitivity syndrome31.4CYP19A1, SHBG, NR1H2, AR
4male infertility31.3AR, SHBG
5alopecia31.2AR, SHBG
6sertoli cell tumor31.0CYP19A1, AR
7leydig cell tumor30.9CYP19A1, CGA
8prostatic hypertrophy30.9SHBG, AR
9prostate cancer30.9AR, NR1H2, SRD5A2
10germ cell cancer30.8CGA, AR
11azoospermia30.8SHBG, CGA, AR
12premature ovarian failure30.8SHBG, CYP19A1
13endometrial cancer30.7CYP19A1, SHBG, AR
14breast cancer30.7CYP19A1, SHBG, SRD5A2, NR1H2, AR
15pseudohermaphroditism30.6AR, SRD5A2, CYP19A1
16cryptorchidism30.6CYP19A1, SHBG, CGA, AR
17oligospermia30.6AR, CGA
18varicocele30.6CGA, SHBG
19hypospadias30.4SRD5A2, CGA, AR
20prostate disease30.4CYP19A1, AR
21testicular cancer30.4CGA, SHBG
22hepatocellular carcinoma30.3SHBG, SRD5A2, NR1H2, AR
23hypopituitarism30.3CGA, SHBG
24hyperprolactinemia30.3CGA, SHBG
25turner syndrome30.3CGA, SHBG
26hyperandrogenism30.2AR, CGA, SHBG, CYP19A1
27graves' disease30.2CGA, SHBG
28ovarian hyperstimulation syndrome30.2CGA, CYP19A1
29precocious puberty30.2CGA, SHBG, CYP19A1
30hypogonadism30.2AR, CGA, SHBG, CYP19A1
31osteoporosis30.2CYP19A1, SHBG, NR1H2
32hypothyroidism30.0CGA, SHBG
33anovulation30.0CYP19A1, SHBG, CGA
34ovarian disease30.0CGA, SHBG
35obesity30.0AR, NR1H2, SHBG
36ovarian cyst30.0CYP19A1, CGA
37polycystic ovary syndrome30.0AR, CGA, SHBG, CYP19A1
38klinefelter's syndrome30.0AR, CGA, SHBG, CYP19A1
39hyperthyroidism29.9CGA, SHBG
40uterine fibroid29.9CYP19A1, SHBG
41gynecomastia29.8CYP19A1, SHBG, SRD5A2, CGA, AR
42hepatoblastoma29.8SHBG, NR1H2
43embryonal cancer29.6CGA, NR1H2
44infertility29.4CYP19A1, SHBG, NR1H2, CGA, AR
45thyroid hormone resistance29.4SHBG, NR1H2
46alopecia, androgenetic, 129.0AR, SRD5A2, SHBG, CYP19A1
47ovarian cancer, somatic28.7AR, NR1H2, SRD5A2, CYP19A1
48prostatitis10.8
49neuronitis10.6
50colorectal cancer10.6

Graphical network of the top 20 diseases related to Androgen Insensitivity:



Diseases related to androgen insensitivity

Symptoms for Androgen Insensitivity

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Symptoms by clinical synopsis from OMIM:

300068

Clinical features from OMIM:

300068

HPO human phenotypes related to Androgen Insensitivity:

(show all 19)
id Description Frequency HPO Source Accession
1 abnormality of female internal genitalia hallmark (90%) HP:0000008
2 cryptorchidism hallmark (90%) HP:0000028
3 male pseudohermaphroditism hallmark (90%) HP:0000037
4 decreased fertility hallmark (90%) HP:0000144
5 abnormal hair quantity hallmark (90%) HP:0011362
6 hernia of the abdominal wall typical (50%) HP:0004299
7 testicular neoplasm occasional (7.5%) HP:0010788
8 inguinal hernia HP:0000023
9 gynecomastia HP:0000771
10 primary amenorrhea HP:0000786
11 x-linked recessive inheritance HP:0001419
12 growth abnormality HP:0001507
13 abnormality of metabolism/homeostasis HP:0001939
14 sparse axillary hair HP:0002215
15 sparse pubic hair HP:0002225
16 absent facial hair HP:0002550
17 neoplasm HP:0002664
18 elevated follicle stimulating hormone HP:0008232
19 female external genitalia in individual with 46,xy karyotype HP:0008730

Drugs & Therapeutics for Androgen Insensitivity

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Drug clinical trials:

Search ClinicalTrials for Androgen Insensitivity

Search NIH Clinical Center for Androgen Insensitivity

Genetic Tests for Androgen Insensitivity

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Genetic tests related to Androgen Insensitivity:

id Genetic test Affiliating Genes
1 Androgen Insensitivity Syndrome20 AR
2 Androgen Resistance Syndrome22
3 Testicular Feminization22

Anatomical Context for Androgen Insensitivity

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MalaCards organs/tissues related to Androgen Insensitivity:

31
Testes, Prostate, Breast, Uterus, Skin, Bone, Testis, Brain, Kidney, Ovary, Pituitary

Animal Models for Androgen Insensitivity or affiliated genes

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MGI Mouse Phenotypes related to Androgen Insensitivity:

35
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053897.6SRD5A2, NR1H2, CGA, AR, CYP19A1
2MP:00053797.3AR, CGA, NR1H2, SRD5A2, CYP19A1

Publications for Androgen Insensitivity

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Articles related to Androgen Insensitivity:

(show top 50)    (show all 476)
idTitleAuthorsYear
1
A Novel Mutation (c.2735_2736delTC) in the Androgen Receptor Gene in 46,XY Females with Complete Androgen Insensitivity Syndrome in an Egyptian Family. (25034089)
2014
2
Response to: Comment on "Complete Androgen Insensitivity Syndrome: Optimizing Diagnosis and Management". (25574409)
2014
3
A novel arg616Cys mutation in the DNA-binding domain of complete androgen insensitivity syndrome in a Chinese family. (24229697)
2013
4
Objective use of testosterone reveals androgen insensitivity in patients with proximal hypospadias. (23962431)
2013
5
The in vivo role of androgen receptor SUMOylation as revealed by androgen insensitivity syndrome and prostate cancer mutations targeting the proline/glycine residues of synergy control motifs. (22829593)
2012
6
Male patients with partial androgen insensitivity syndrome: a longitudinal follow-up of growth, reproductive hormones and the development of gynaecomastia. (22412043)
2012
7
Prenatal diagnosis of partial androgen insensitivity syndrome by means of a 4-D ultrasound technique. (22260757)
2012
8
Community screening leading to the diagnosis of androgen insensitivity syndrome at the age of 65. (24371658)
2012
9
A novel Arg615Ser mutation of androgen receptor DNA-binding domain in three 46,XY sisters with complete androgen insensitivity syndrome and bilateral inguinal hernia. (20888558)
2011
10
A large advanced seminoma in an older woman with androgen insensitivity syndrome. (22384429)
2011
11
Complete androgen insensitivity syndrome: an anatomic evaluation and sexual function questionnaire pilot study. (20719566)
2011
12
Familial complete androgen insensitivity syndrome with prostatic tissue and seminal vesicles. (20602105)
2010
13
S578N mutation of the androgen receptor in an adolescent with complete androgen insensitivity syndrome. (20819612)
2010
14
Apparent male gender identity in a patient with complete androgen insensitivity syndrome. (19636694)
2009
15
Prenatal diagnosis of androgen insensitivity syndrome. (19844078)
2009
16
Identification of a critical novel mutation in the exon 1 of androgen receptor gene in 2 brothers with complete androgen insensitivity syndrome. (19023143)
2009
17
Piceatannol, a natural stilbene from grapes, induces G1 cell cycle arrest in androgen-insensitive DU145 human prostate cancer cells via the inhibition of CDK activity. (19487074)
2009
18
Novel missense mutation in the P-box of androgen receptor in a patient with androgen insensitivity syndrome. (18270433)
2008
19
In-vitro characterization of androgen receptor mutations associated with complete androgen insensitivity syndrome reveals distinct functional deficits. (18577874)
2008
20
Complete androgen insensitivity without Wolffian duct development: the AR-A form of the androgen receptor is not sufficient for male genital development. (17408421)
2007
21
Heterozygous mutation of steroidogenic factor-1 in 46,XY subjects may mimic partial androgen insensitivity syndrome. (17488792)
2007
22
Testicular development in the complete androgen insensitivity syndrome. (16400621)
2006
23
Partial androgen insensitivity syndrome with thermolability in the androgen receptor. (16448442)
2006
24
Gene symbol: AR. Disease: androgen insensitivity syndrome. (17128486)
2006
25
Complete androgen insensitivity syndrome: report of a case with solitary pelvic kidney. (16604972)
2006
26
Partial androgen insensitivity syndrome with R840H mutation in androgen receptor: report of one case. (16302589)
2005
27
Partial androgen insensitivity syndrome. (23256957)
2005
28
An examination of how different mutations at arginine 855 of the androgen receptor result in different androgen insensitivity phenotypes. (15118070)
2004
29
Differential gene-expression patterns in genital fibroblasts of normal males and 46,XY females with androgen insensitivity syndrome: evidence for early programming involving the androgen receptor. (12801411)
2003
30
Transition C2718T in the AR gene, resulting in generation of a termination codon and truncated form of the androgen receptor, causes complete androgen insensitivity syndrome. (12084976)
2002
31
Synthetic inhibitors of CDKs induce different responses in androgen sensitive and androgen insensitive prostatic cancer cell lines. (12147712)
2002
32
Phenotypic variation in a family with partial androgen insensitivity syndrome explained by differences in 5alpha dihydrotestosterone availability. (11238515)
2001
33
Novel molecular defects in the androgen receptor gene of Mexican patients with androgen insensitivity. (11260228)
2001
34
Decreased expression of IGF-II and its binding protein, IGF-binding protein-2, in genital skin fibroblasts of patients with complete androgen insensitivity syndrome compared with normally virilized males. (11600534)
2001
35
A substitutional mutation in the DNA binding domain of the androgen receptor causes complete androgen insensitivity syndrome. (10599549)
1999
36
A frame shift mutation in the DNA-binding domain of the androgen receptor gene associated with complete androgen insensitivity, persistent mA1llerian structures, and germ cell tumors in dysgenetic gonads. (10428170)
1999
37
An androgen receptor mutation in the direct vicinity of the proposed C-terminal alpha-helix of the ligand binding domain containing the AF- 2 transcriptional activating function core is associated with complete androgen insensitivity. (10221770)
1999
38
Molecular analysis of the androgen receptor gene in 4 patients with complete androgen insensitivity. (9544375)
1998
39
Wide variation in androgen receptor dysfunction in complete androgen insensitivity syndrome. (9328206)
1997
40
Androgen insensitivity syndrome: a survey of diagnostic procedures and management in the UK. (9389232)
1997
41
Mosaicism due to a somatic mutation of the androgen receptor gene determines phenotype in androgen insensitivity syndrome. (9360511)
1997
42
Sex, lies and androgen insensitivity syndrome. (8653640)
1996
43
Medical ethics and truth telling in the case of androgen insensitivity syndrome. (8630847)
1996
44
Characterization of mutant androgen receptors causing partial androgen insensitivity syndrome. (8126121)
1994
45
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
46
Complete androgen insensitivity syndrome associated with a de novo mutation of the androgen receptor gene detected by single strand conformation polymorphism. (8096390)
1993
47
Single base mutations in the human androgen receptor gene causing complete androgen insensitivity: rapid detection by a modified denaturing gradient gel electrophoresis technique. (1480178)
1992
48
Androgen dependent stimulation of aromatase activity in genital skin fibroblasts from normals and patients with androgen insensitivity. (1769135)
1991
49
Functional characterization of naturally occurring mutant androgen receptors from subjects with complete androgen insensitivity. (2082179)
1990
50
The presence of MA1llerian remnants in the complete androgen insensitivity syndrome: a steroid hormone-mediated defect? (3753943)
1986

Variations for Androgen Insensitivity

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UniProtKB/Swiss-Prot genetic disease variations for Androgen Insensitivity:

62 (show all 111)
id Symbol AA change Variation ID SNP ID
1ARp.Ile664AsnVAR_004687
2ARp.Leu677ProVAR_004688
3ARp.Asp695HisVAR_004690
4ARp.Asp695AsnVAR_004691
5ARp.Asp695ValVAR_004692
6ARp.Ser703GlyVAR_004693
7ARp.Leu707ArgVAR_004694
8ARp.Asp732AsnVAR_004696
9ARp.Asp732TyrVAR_004697
10ARp.Gly743ValVAR_004699
11ARp.Met749ValVAR_004700
12ARp.Gly750AspVAR_004701
13ARp.Arg752GlnVAR_004702
14ARp.Phe754ValVAR_004703
15ARp.Leu762PheVAR_004704
16ARp.Ala765ThrVAR_004707
17ARp.Arg774HisVAR_004708
18ARp.Arg774CysVAR_004709
19ARp.Arg779TrpVAR_004710
20ARp.Met780IleVAR_004711
21ARp.Cys784TyrVAR_004712
22ARp.Met787ValVAR_004713
23ARp.Phe794SerVAR_004714
24ARp.Gln798GluVAR_004715
25ARp.Met807ArgVAR_004716
26ARp.Met807ValVAR_004717
27ARp.Ser814AsnVAR_004718
28ARp.Arg831LeuVAR_004719
29ARp.Arg831GlnVAR_004720
30ARp.Arg840CysVAR_004721
31ARp.Arg840HisVAR_004723
32ARp.Ile842ThrVAR_004724
33ARp.Arg855CysVAR_004725
34ARp.Arg855HisVAR_004726
35ARp.Asp864AsnVAR_004727
36ARp.Val866GluVAR_004728
37ARp.Val866MetVAR_004730
38ARp.Pro892LeuVAR_004733
39ARp.Met895ThrVAR_004734
40ARp.Leu907PheVAR_004735
41ARp.Gln194ArgVAR_009224
42ARp.Leu255ProVAR_009225
43ARp.Pro390ArgVAR_009226
44ARp.Pro390SerVAR_009227
45ARp.Gln443ArgVAR_009228
46ARp.Gly214ArgVAR_009715
47ARp.Gly491SerVAR_009719
48ARp.Pro548SerVAR_009722
49ARp.Cys559TyrVAR_009723
50ARp.Tyr571CysVAR_009727
51ARp.Ala573AspVAR_009728
52ARp.Cys576PheVAR_009731
53ARp.Cys576ArgVAR_009732
54ARp.Cys579PheVAR_009733
55ARp.Cys579TyrVAR_009734
56ARp.Val581PheVAR_009736
57ARp.Arg585LysVAR_009740
58ARp.Ala596ThrVAR_009743
59ARp.Cys601PheVAR_009746
60ARp.Cys611TyrVAR_009749
61ARp.Arg615HisVAR_009751
62ARp.Arg615ProVAR_009752
63ARp.Leu616ProVAR_009753
64ARp.Arg617ProVAR_009755
65ARp.Glu681LysVAR_009764
66ARp.Val684IleVAR_009766
67ARp.Gly688GluVAR_009769
68ARp.Leu700MetVAR_009771
69ARp.Leu701PheVAR_009772
70ARp.Leu701HisVAR_009773
71ARp.Ser702AlaVAR_009774
72ARp.Ser703CysVAR_009775
73ARp.Asn705SerVAR_009776
74ARp.Gly708ValVAR_009778
75ARp.Arg710ThrVAR_009779
76ARp.Leu722PheVAR_009785
77ARp.Pro723SerVAR_009786
78ARp.Gly724AspVAR_009787
79ARp.Asn727LysVAR_009790
80ARp.Trp741ArgVAR_009794
81ARp.Leu744PheVAR_009796
82ARp.Trp751ArgVAR_009804
83ARp.Ser759PheVAR_009810
84ARp.Tyr763HisVAR_009812
85ARp.Phe764LeuVAR_009813
86ARp.Ala765ValVAR_009814
87ARp.Pro766SerVAR_009815
88ARp.Asp767GluVAR_009816
89ARp.Leu768ProVAR_009817
90ARp.Arg788SerVAR_009822
91ARp.Leu790PheVAR_009823
92ARp.Leu812PheVAR_009828
93ARp.Gly820AlaVAR_009829
94ARp.Tyr834CysVAR_009832
95ARp.Phe856LeuVAR_009836
96ARp.Leu863ArgVAR_009837
97ARp.Asp864GlyVAR_009838
98ARp.Ser865ProVAR_009839
99ARp.Arg871GlyVAR_009842
100ARp.Leu881ValVAR_009846
101ARp.Met886ValVAR_009847
102ARp.Val889MetVAR_009848
103ARp.Ile898ThrVAR_009852
104ARp.Pro904HisVAR_009855
105ARp.Pro904SerVAR_009856
106ARp.Phe916LeuVAR_009861
107ARp.His917ArgVAR_009862
108ARp.Asn705TyrVAR_013475
109ARp.Gly743GluVAR_013477
110ARp.His874ArgVAR_013479
111ARp.Asp879TyrVAR_013480

Clinvar genetic disease variations for Androgen Insensitivity:

6
id Gene Variation Type Significance SNP ID Assembly Location
1ARNM_000044.3(AR): c.2571C> G (p.Phe857Leu)single nucleotide variantPathogenicrs137852598GRCh37Chr X, 66942790: 66942790
2ARNM_000044.3(AR): c.2521C> T (p.Arg841Cys)single nucleotide variantPathogenicrs137852577GRCh37Chr X, 66942740: 66942740
3ARNM_000044.3(AR): c.2667C> T (p.Ser889=)single nucleotide variantPathogenicrs137852594GRCh37Chr X, 66943587: 66943587
4ARNM_000044.3(AR): c.2137C> T (p.Leu713Phe)single nucleotide variantPathogenicrs137852595GRCh37Chr X, 66931495: 66931495
5ARNM_000044.3(AR): c.1732G> A (p.Gly578Arg)single nucleotide variantPathogenicrs137852596GRCh37Chr X, 66863213: 66863213
6ARNM_000044.3(AR): c.2596T> C (p.Ser866Pro)single nucleotide variantPathogenicrs137852597GRCh37Chr X, 66942815: 66942815

Expression for genes affiliated with Androgen Insensitivity

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Search GEO for disease gene expression data for Androgen Insensitivity.

Pathways for genes affiliated with Androgen Insensitivity

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Pathways related to Androgen Insensitivity according to GeneCards Suite gene sharing:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.6AR, SHBG
2
Show member pathways
9.6AR, SHBG
3
Show member pathways
Translation Non genomic rapid action of Androgen Receptor58
9.5AR, SRD5A2
49.4CGA, CYP19A1
59.4CYP19A1, CGA
6
Show member pathways
estradiol biosynthesis II36
androgen biosynthesis36
estradiol biosynthesis I36
progesterone biosynthesis36
9.3SRD5A2, CYP19A1
7
Show member pathways
Glucocorticoid andamp; Mineralcorticoid Metabolism36
9.3CYP19A1, SRD5A2
8
Show member pathways
Nuclear Receptors36
9.3AR, NR1H2
99.1CYP19A1, CGA, AR
10
Show member pathways
8.8CGA, SRD5A2, CYP19A1

Compounds for genes affiliated with Androgen Insensitivity

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Compounds related to Androgen Insensitivity according to GeneCards Suite gene sharing:

(show top 50)    (show all 113)
idCompoundScoreTop Affiliating Genes
1vinclozolin439.7CYP19A1, AR
2vorozole439.7CYP19A1, SHBG
3chlormadinone acetate439.6SHBG, AR
4epitestosterone439.6SHBG, CGA
5androstenediol439.5SHBG, CYP19A1, AR
6nandrolone43 2410.5SHBG, CYP19A1, AR
75alpha-androstane-3alpha,17beta-diol439.5SHBG, AR, CYP19A1
8hydroxyflutamide43 2810.5AR, SHBG, CGA
9exemestane43 49 59 1212.4CYP19A1, SHBG, AR
10danazol43 24 1211.4AR, SHBG, CYP19A1
11levonorgestrel43 59 28 1212.4AR, SHBG, CYP19A1
12dutasteride43 1210.3SRD5A2, CYP19A1, AR
13goserelin43 28 1211.3CGA, SHBG, CYP19A1
14leuprolide acetate439.3SHBG, CYP19A1, CGA
15anastrozole43 49 1211.3CGA, SHBG, CYP19A1
16clomiphene citrate439.3CYP19A1, CGA, SHBG
1717-hydroxyprogesterone43 2410.2SHBG, CGA, CYP19A1
18formestane439.2SHBG, CYP19A1
19dhea439.2AR, SHBG, CYP19A1
20bisphenol a439.1AR, CYP19A1, NR1H2
21letrozole43 49 59 1212.0CYP19A1, AR, SHBG, CGA
22diethylstilbestrol43 28 1211.0AR, CGA, CYP19A1, SHBG
23dehydroepiandrosterone sulfate439.0CGA, CYP19A1, SHBG, AR
24steroidal439.0AR, NR1H2, CYP19A1
25finasteride43 59 24 1211.9AR, SRD5A2, SHBG, CYP19A1
26raloxifene43 49 28 1211.9NR1H2, CYP19A1, SHBG
273beta-hydroxysteroid438.8AR, CGA, CYP19A1, SRD5A2
2817beta-hydroxysteroid438.8CYP19A1, AR, SRD5A2, CGA
29bicalutamide43 59 1210.8NR1H2, SACS, CYP19A1, AR
30cyproteroneacetate438.7SHBG, CYP19A1, NR1H2, AR
31ketoconazole43 28 24 1211.7SHBG, NR1H2, CYP19A1, AR
32progestins438.7SHBG, CYP19A1, AR, NR1H2
33estrone43 28 24 1211.6CYP19A1, NR1H2, AR, SHBG
34triiodothyronine438.6SHBG, NR1H2, CGA
35metformin43 49 1210.5CYP19A1, SHBG, NR1H2, CGA
36androstenedione43 249.4SHBG, CYP19A1, CGA, SRD5A2, AR
37genistein43 28 59 2 24 1213.3NR1H2, AR, SHBG, CYP19A1
38progestin438.2SHBG, NR1H2, CGA, AR, CYP19A1
39mifepristone43 28 59 1211.2CGA, AR, NR1H2, SHBG, CYP19A1
40gnrh438.2NR1H2, CYP19A1, SHBG, CGA, AR
41tamoxifen43 49 28 1211.2NR1H2, CYP19A1, SHBG, CGA, AR
42flutamide43 59 129.8AR, SACS, NR1H2, CGA, SHBG, CYP19A1
43dihydrotestosterone43 28 24 1210.6SRD5A2, CYP19A1, NR1H2, CGA, AR, SHBG
44vitamin d437.6NR1H2, AR, CGA, SRD5A2, SHBG, CYP19A1
45estradiol43 24 129.6SRD5A2, NR1H2, CYP19A1, CGA, AR, SHBG
46progesterone43 28 59 24 1211.6SRD5A2, CYP19A1, NR1H2, SHBG, AR, CGA
47steroid437.6SRD5A2, NR1H2, CGA, AR, SHBG, CYP19A1
48arginine437.5CGA, CYP19A1, AR, NR1H2, SHBG, SRD5A2
49estrogen437.5SRD5A2, CYP19A1, AR, NR1H2, CGA, SHBG
50testosterone43 59 24 1210.2CYP19A1, AR, SHBG, CGA, NR1H2, SRD5A2

GO Terms for genes affiliated with Androgen Insensitivity

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Biological processes related to Androgen Insensitivity according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1androgen metabolic processGO:00082099.3SRD5A2, CYP19A1
2steroid metabolic processGO:00082029.0CYP19A1, SRD5A2
3cell-cell signalingGO:00072678.9AR, CGA, SRD5A2
4positive regulation of transcription from RNA polymerase II promoterGO:00459448.8AR, CGA, NR1H2

Molecular functions related to Androgen Insensitivity according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1androgen bindingGO:00054979.3AR, SHBG
2ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activityGO:00048799.3AR, NR1H2

Products for genes affiliated with Androgen Insensitivity

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Sources for Androgen Insensitivity

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet