AR
MCID: AND002
MIFTS: 80

Androgen Insensitivity Syndrome (AR) malady

Genetic diseases, Rare diseases, Endocrine diseases, Reproductive diseases, Fetal diseases categories
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Summaries for Androgen Insensitivity Syndrome

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NIH Rare Diseases:42 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 Syndrome, also known as testicular feminization, is related to partial androgen insensitivity syndrome and sertoli cell tumor, and has symptoms including decreased body hair/axillar/pubic hairlessness, male pseudohermaphrodism/lack of virilisation and uterine/uterus/fallopian tubes anomalies. An important gene associated with Androgen Insensitivity Syndrome is AR (androgen receptor), and among its related pathways are Androgen Signaling and Nongenotropic Androgen signaling. The compounds vorozole and vinclozolin have been mentioned in the context of this disorder. Affiliated tissues include testes, breast and uterus, and related mouse phenotypes are reproductive system and endocrine/exocrine gland.

Disease Ontology:8 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.

Wikipedia:65 Androgen insensitivity syndrome (AIS) is a condition that results in the partial or complete inability... more...

Descriptions from OMIM:46 300068,300274

GeneReviews summary for androgen

Aliases & Classifications for Androgen Insensitivity Syndrome

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Androgen Insensitivity Syndrome, Aliases & Descriptions:

Name: Androgen Insensitivity Syndrome 8 65 19 42 21 10 44
Testicular Feminization 8 19 22 21 62
Dihydrotestosterone Receptor Deficiency 65 42 21 62
Testicular Feminization Syndrome 8 65 42 62
Androgen Receptor Deficiency 42 21 62
Androgen Resistance Syndrome 8 22 21
Androgen Insensitivity 9 20 46
Dhtr Deficiency 65 42 21
Ais 65 42 21
Androgen-Insensitivity Syndrome 8 62
Goldberg-Maxwell Syndrome 8 62
 
Ar Deficiency 65 21
Androgen-Insensitivity Syndrome, Complete 62
Complete Androgen Insensitivity Syndrome 48
Tfm - Testicular Feminization Syndrome 65
Tfm - Testicular Feminisation Syndrome 62
Complete Androgen Resistance Syndrome 48
Goldberg - Maxwell Syndrome 8
Androgen Insensitivity Nos 62
Feminisation - Testicular 8
Cais 48
Ar 38


Classifications:



Characteristics (Orphanet epidemiological data):

48
complete androgen insensitivity syndrome:
Inheritance: X-linked recessive; Age of onset: Variable; Age of death: Normal


External Ids:

Disease Ontology8 DOID:4674
ICD9CM27 259.5, 259.51
ICD10 via Orphanet26 E34.5
ICD1025 E34.5

Related Diseases for Androgen Insensitivity Syndrome

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Diseases related to Androgen Insensitivity Syndrome via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 4440)
idRelated DiseaseScoreTop Affiliating Genes
1partial androgen insensitivity syndrome31.7SHBG, AR, CYP19A1
2sertoli cell tumor31.0CYP19A1, AR
3leydig cell tumor30.9CGA, CYP19A1
4alopecia30.6SHBG, AR
5pseudohermaphroditism30.5CYP19A1, SRD5A2, AR
6male infertility30.5SHBG, AR
7endometriosis30.5CGA, CYP19A1
8osteoporosis30.4SHBG, CYP19A1, NR1H2
9prostate cancer30.4AR, NR1H2, SRD5A2
10ovarian cancer30.4CYP19A1, SRD5A2, NR1H2, AR
11turner syndrome30.3SHBG, CGA
12testicular cancer30.3CGA, SHBG
13polycystic ovary syndrome30.3CYP19A1, AR, CGA, SHBG
14short stature30.3CYP19A1, SHBG
15endometrial carcinoma30.2SHBG, AR, CYP19A1
16pre-eclampsia30.2AR, SHBG, CGA
17breast cancer30.2AR, NR1H2, CYP19A1
18graves' disease30.2SHBG, CGA
19germ cell cancer30.2AR, CGA
20hypopituitarism30.1CGA, SHBG
21prostate disease30.0AR, CYP19A1
22ovarian hyperstimulation syndrome30.0CYP19A1, CGA
23hepatoblastoma30.0SHBG, NR1H2
24hypospadias30.0SRD5A2, CGA, AR
25azoospermia29.9AR, SHBG, CGA
26ovarian disease29.9SHBG, CGA
27uterine fibroid29.9CYP19A1, SHBG
28precocious puberty29.9SHBG, CGA, CYP19A1
29hyperprolactinemia29.9SHBG, CGA
30klinefelter's syndrome29.8SHBG, CYP19A1, CGA, AR
31hypogonadism29.8AR, CGA, SHBG, CYP19A1
32varicocele29.8SHBG, CGA
33hyperthyroidism29.8CGA, SHBG
34obesity29.8NR1H2, AR, SHBG
35hyperinsulinism29.8SHBG, NR1H2
36anovulation29.8SHBG, CYP19A1, CGA
37ovarian cyst29.8CYP19A1, CGA
38hypothyroidism29.7SHBG, CGA
39hyperandrogenism29.7AR, CGA, SHBG, CYP19A1
40cryptorchidism29.7AR, CGA, SHBG, CYP19A1
41androgenetic alopecia29.6CYP19A1, SHBG, SRD5A2, AR
42oligospermia29.6AR, CGA
43hypogonadism, hypergonadotropic29.6CYP19A1, SHBG
44thyroid hormone resistance syndrome29.6NR1H2, SHBG
45liver cancer29.6NR1H2, SHBG, SRD5A2, AR
46embryonal cancer29.5CGA, NR1H2
47infertility29.5SHBG, NR1H2, CGA, CYP19A1, AR
48gynecomastia29.4AR, CGA, SRD5A2, SHBG, CYP19A1
49complete androgen insensitivity syndrome11.3
50alzheimer's disease10.8

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



Diseases related to androgen insensitivity syndrome

Symptoms for Androgen Insensitivity Syndrome

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Symptoms by clinical synopsis from OMIM:

300068

Clinical features from OMIM:

300068,300274

Symptoms:

48 (show all 14)
  • decreased body hair/axillar/pubic hairlessness
  • male pseudohermaphrodism/lack of virilisation
  • uterine/uterus/fallopian tubes anomalies
  • undescended/ectopic testes/cryptorchidia/unfixed testes
  • sterility/hypofertility
  • primary amenorrhea
  • tall stature/gigantism/growth acceleration
  • inguinal/inguinoscrotal/crural hernia
  • osteoporosis/osteopenia/demineralisation/osteomalacia/rickets
  • gynecomastia/breast/mammary gland enlargement/hyperplasia
  • tremor
  • sensitive trouble/deficit
  • contractures/cramps/trismus/tetania/claudication/opisthotonos
  • testicular/seminal neoplasm/tumor/carcinoma/cancer (excl. teratoma/germinoma)

HPO human phenotypes related to Androgen Insensitivity Syndrome:

(show all 31)
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 cryptorchidism hallmark (90%) HP:0000028
7 male pseudohermaphroditism hallmark (90%) HP:0000037
8 tall stature hallmark (90%) HP:0000098
9 decreased fertility hallmark (90%) HP:0000144
10 primary amenorrhea hallmark (90%) HP:0000786
11 abnormal hair quantity hallmark (90%) HP:0011362
12 hernia of the abdominal wall typical (50%) HP:0004299
13 hernia of the abdominal wall typical (50%) HP:0004299
14 reduced bone mineral density typical (50%) HP:0004349
15 testicular neoplasm occasional (7.5%) HP:0010788
16 gynecomastia occasional (7.5%) HP:0000771
17 tremor occasional (7.5%) HP:0001337
18 flexion contracture occasional (7.5%) HP:0001371
19 testicular neoplasm occasional (7.5%) HP:0010788
20 inguinal hernia HP:0000023
21 gynecomastia HP:0000771
22 primary amenorrhea HP:0000786
23 x-linked recessive inheritance HP:0001419
24 growth abnormality HP:0001507
25 abnormality of metabolism/homeostasis HP:0001939
26 sparse axillary hair HP:0002215
27 sparse pubic hair HP:0002225
28 absent facial hair HP:0002550
29 neoplasm HP:0002664
30 elevated follicle stimulating hormone HP:0008232
31 female external genitalia in individual with 46,xy karyotype HP:0008730

Drugs & Therapeutics for Androgen Insensitivity Syndrome

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Drug clinical trials:

Search ClinicalTrials for Androgen Insensitivity Syndrome

Search NIH Clinical Center for Androgen Insensitivity Syndrome

Genetic Tests for Androgen Insensitivity Syndrome

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Genetic tests related to Androgen Insensitivity Syndrome:

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

Anatomical Context for Androgen Insensitivity Syndrome

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MalaCards organs/tissues related to Androgen Insensitivity Syndrome:

32
Testes, Breast, Uterus, Bone, Skin, Prostate, Brain, Kidney, Testis, Pituitary

Animal Models for Androgen Insensitivity Syndrome or affiliated genes

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MGI Mouse Phenotypes related to Androgen Insensitivity Syndrome:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053897.6SRD5A2, NR1H2, CGA, AR, CYP19A1
2MP:00053797.3AR, CGA, NR1H2, SRD5A2, CYP19A1

Publications for Androgen Insensitivity Syndrome

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Articles related to Androgen Insensitivity Syndrome:

(show top 50)    (show all 377)
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
Complete androgen insensitivity syndrome in juveniles and adults with female phenotypes. (25170741)
2014
3
A novel arg616Cys mutation in the DNA-binding domain of complete androgen insensitivity syndrome in a Chinese family. (24229697)
2013
4
Complete androgen insensitivity syndrome: a rare case of disorder of sex development. (23533861)
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
Androgen insensitivity syndrome. (23044881)
2012
9
Community screening leading to the diagnosis of androgen insensitivity syndrome at the age of 65. (24371658)
2012
10
Timing of gonadectomy in adult women with complete androgen insensitivity syndrome (CAIS): patient preferences and clinical evidence. (22211628)
2012
11
A novel nonsense mutation in the N-terminal domain of the androgen receptor gene causes complete androgen insensitivity syndrome. (22943730)
2012
12
Ultrasound findings in a rare case of inguinal testicular torsion in a female with complete androgen insensitivity syndrome. (21998027)
2012
13
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
14
A large advanced seminoma in an older woman with androgen insensitivity syndrome. (22384429)
2011
15
Complete androgen insensitivity syndrome: an anatomic evaluation and sexual function questionnaire pilot study. (20719566)
2011
16
Familial complete androgen insensitivity syndrome with prostatic tissue and seminal vesicles. (20602105)
2010
17
S578N mutation of the androgen receptor in an adolescent with complete androgen insensitivity syndrome. (20819612)
2010
18
Apparent male gender identity in a patient with complete androgen insensitivity syndrome. (19636694)
2009
19
Prenatal diagnosis of androgen insensitivity syndrome. (19844078)
2009
20
Identification of a critical novel mutation in the exon 1 of androgen receptor gene in 2 brothers with complete androgen insensitivity syndrome. (19023143)
2009
21
Novel missense mutation in the P-box of androgen receptor in a patient with androgen insensitivity syndrome. (18270433)
2008
22
In-vitro characterization of androgen receptor mutations associated with complete androgen insensitivity syndrome reveals distinct functional deficits. (18577874)
2008
23
Heterozygous mutation of steroidogenic factor-1 in 46,XY subjects may mimic partial androgen insensitivity syndrome. (17488792)
2007
24
Testicular development in the complete androgen insensitivity syndrome. (16400621)
2006
25
Partial androgen insensitivity syndrome with thermolability in the androgen receptor. (16448442)
2006
26
Complete androgen insensitivity syndrome: report of a case with solitary pelvic kidney. (16604972)
2006
27
Partial androgen insensitivity syndrome with R840H mutation in androgen receptor: report of one case. (16302589)
2005
28
Partial androgen insensitivity syndrome. (23256957)
2005
29
Androgen insensitivity syndrome: somatic mosaicism of the androgen receptor in seven families and consequences for sex assignment and genetic counseling. (15522944)
2005
30
Impaired nuclear translocation, nuclear matrix targeting, and intranuclear mobility of mutant androgen receptors carrying amino acid substitutions in the deoxyribonucleic acid-binding domain derived from androgen insensitivity syndrome patients. (16118342)
2005
31
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
32
Bridging structural biology and genetics by computational methods: an investigation into how the R774C mutation in the AR gene can result in complete androgen insensitivity syndrome. (14635106)
2003
33
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
34
Phenotypic variation in a family with partial androgen insensitivity syndrome explained by differences in 5alpha dihydrotestosterone availability. (11238515)
2001
35
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
36
Novel amino acid substitutional mutation, tyrosine-739-aspartic acid, in the androgen receptor gene in complete androgen insensitivity syndrome. (11380707)
2001
37
Phenotypic features, androgen receptor binding, and mutational analysis in 278 clinical cases reported as androgen insensitivity syndrome. (10690872)
2000
38
A substitutional mutation in the DNA binding domain of the androgen receptor causes complete androgen insensitivity syndrome. (10599549)
1999
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
Laparoscopic gonadectomy in a woman with complete androgen insensitivity syndrome. (9050649)
1996
45
Characterization of mutant androgen receptors causing partial androgen insensitivity syndrome. (8126121)
1994
46
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
47
Complete androgen insensitivity syndrome associated with a de novo mutation of the androgen receptor gene detected by single strand conformation polymorphism. (8096390)
1993
48
Molecular analysis of the androgen receptor gene in 52 patients with complete or partial androgen insensitivity syndrome: a collaborative study. (1356901)
1992
49
Incomplete regression of mA1llerian ducts in the androgen insensitivity syndrome. (2112490)
1990
50
The presence of MA1llerian remnants in the complete androgen insensitivity syndrome: a steroid hormone-mediated defect? (3753943)
1986

Variations for Androgen Insensitivity Syndrome

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

64 (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 Syndrome:

6
id Gene Name 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 Syndrome

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Expression patterns in normal tissues for genes affiliated with Androgen Insensitivity Syndrome

Search GEO for disease gene expression data for Androgen Insensitivity Syndrome.

Pathways for genes affiliated with Androgen Insensitivity Syndrome

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Pathways related to Androgen Insensitivity Syndrome according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
9.6AR, SHBG
29.6AR, SHBG
3
Show member pathways
Nuclear Receptors37
9.5AR, NR1H2
4
Show member pathways
Translation Non genomic rapid action of Androgen Receptor60
9.4AR, SRD5A2
5
Show member pathways
Glucocorticoid andamp; Mineralcorticoid Metabolism37
9.3CYP19A1, SRD5A2
6
Show member pathways
estradiol biosynthesis II37
androgen biosynthesis37
estradiol biosynthesis I37
progesterone biosynthesis37
9.3SRD5A2, CYP19A1
79.1CYP19A1, CGA
89.1CGA, CYP19A1
98.7CYP19A1, CGA, AR
10
Show member pathways
8.5CGA, SRD5A2, CYP19A1

Compounds for genes affiliated with Androgen Insensitivity Syndrome

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Compounds related to Androgen Insensitivity Syndrome according to GeneCards/GeneDecks:

(show top 50)    (show all 118)
idCompoundScoreTop Affiliating Genes
1vorozole449.7SHBG, CYP19A1
2vinclozolin449.7CYP19A1, AR
3ment449.5SHBG, CYP19A1
4androstenediol449.5AR, CYP19A1, SHBG
5nandrolone44 2410.5SHBG, CYP19A1, AR
65alpha-androstane-3alpha,17beta-diol449.4CYP19A1, SHBG, AR
7exemestane44 50 61 1112.4AR, CYP19A1, SHBG
8danazol44 24 1111.4SHBG, CYP19A1, AR
9levonorgestrel44 61 28 1112.4SHBG, CYP19A1, AR
10bisphenol a449.3CYP19A1, AR, NR1H2
11epitestosterone449.3CGA, SHBG
12dutasteride44 1110.3CYP19A1, SRD5A2, AR
13bicalutamide44 61 1111.3NR1H2, AR, CYP19A1
14steroidal449.2NR1H2, AR, CYP19A1
15raloxifene44 50 28 1112.2NR1H2, SHBG, CYP19A1
16hydroxyflutamide44 2810.1CGA, SHBG, AR
17dhea449.1AR, SHBG, CYP19A1
18goserelin44 28 1111.0CGA, SHBG, CYP19A1
19leuprolide acetate449.0SHBG, CYP19A1, CGA
20cyproteroneacetate449.0SHBG, CYP19A1, NR1H2, AR
21anastrozole44 50 1111.0CYP19A1, SHBG, CGA
22clomiphene citrate449.0CYP19A1, CGA, SHBG
23ketoconazole44 28 24 1112.0SHBG, CYP19A1, AR, NR1H2
24progestins449.0CYP19A1, SHBG, NR1H2, AR
2517-hydroxyprogesterone44 249.9CYP19A1, CGA, SHBG
26estrone44 28 24 1111.9NR1H2, AR, CYP19A1, SHBG
27finasteride44 61 24 1111.9SHBG, CYP19A1, AR, SRD5A2
28letrozole44 50 61 1111.7SHBG, AR, CGA, CYP19A1
29diethylstilbestrol44 28 1110.7SHBG, CYP19A1, CGA, AR
30dehydroepiandrosterone sulfate448.7SHBG, CGA, AR, CYP19A1
31genistein44 28 61 2 24 1113.6NR1H2, SHBG, AR, CYP19A1
32metformin44 50 1110.5CYP19A1, NR1H2, SHBG, CGA
333beta-hydroxysteroid448.5AR, CYP19A1, SRD5A2, CGA
3417beta-hydroxysteroid448.5CYP19A1, SRD5A2, AR, CGA
35triiodothyronine448.4CGA, NR1H2, SHBG
36flutamide44 61 1110.2CGA, CYP19A1, SHBG, NR1H2, AR
37progestin448.2NR1H2, SHBG, CYP19A1, CGA, AR
38mifepristone44 28 61 1111.2CGA, SHBG, AR, NR1H2, CYP19A1
39gnrh448.2AR, CGA, NR1H2, CYP19A1, SHBG
40tamoxifen44 50 28 1111.1AR, CGA, NR1H2, SHBG, CYP19A1
41pge2448.1CYP19A1, NR1H2, CGA, AR
42androstenedione44 249.1CYP19A1, SHBG, SRD5A2, AR, CGA
43dihydrotestosterone44 28 24 1110.6SRD5A2, SHBG, AR, CYP19A1, CGA, NR1H2
44vitamin d447.6SHBG, SRD5A2, NR1H2, CYP19A1, AR, CGA
45estradiol44 24 119.6NR1H2, CGA, SHBG, SRD5A2, CYP19A1, AR
46progesterone44 28 61 24 1111.5NR1H2, SHBG, CYP19A1, SRD5A2, CGA, AR
47testosterone44 61 24 1110.5NR1H2, CGA, CYP19A1, AR, SHBG, SRD5A2
48steroid447.5AR, CGA, CYP19A1, SHBG, SRD5A2, NR1H2
49arginine447.5SHBG, CGA, AR, NR1H2, SRD5A2, CYP19A1
50estrogen447.5SHBG, SRD5A2, AR, CYP19A1, NR1H2, CGA

GO Terms for genes affiliated with Androgen Insensitivity Syndrome

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Biological processes related to Androgen Insensitivity Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1androgen metabolic processGO:0082099.3SRD5A2, CYP19A1
2steroid metabolic processGO:0082029.0CYP19A1, SRD5A2
3positive regulation of transcription from RNA polymerase II promoterGO:0459448.7AR, CGA, NR1H2
4cell-cell signalingGO:0072678.5AR, CGA, SRD5A2

Molecular functions related to Androgen Insensitivity Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activityGO:0048799.5AR, NR1H2
2androgen bindingGO:0054979.3AR, SHBG

Products for genes affiliated with Androgen Insensitivity Syndrome

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  • Antibodies
  • Proteins
  • Lysates

Sources for Androgen Insensitivity Syndrome

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet