AR
MCID: AND002
MIFTS: 80

Androgen Insensitivity Syndrome (AR) malady

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

Summaries for Androgen Insensitivity Syndrome

About this section
Sources:
9Disease Ontology, 22Genetics Home Reference, 44NIH Rare Diseases, 66Wikipedia, 48OMIM, 20GeneReviews, 34MalaCards
See all sources

Fully expand this MalaCard

Download this MalaCard
NIH Rare Diseases:44 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.Ā androgen insensitivity syndrome is caused by mutations in the ar gene and is inherited in an x-linked recessiveĀ pattern. last updated: 3/30/2011

MalaCards: Androgen Insensitivity Syndrome, also known as testicular feminization, is related to complete androgen insensitivity syndrome and partial androgen insensitivity syndrome, and has symptoms including testicular/seminal neoplasm/tumor/carcinoma/cancer (excl. teratoma/germinoma), contractures/cramps/trismus/tetania/claudication/opisthotonos and sensitive trouble/deficit. 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: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:22 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:66 Androgen insensitivity syndrome (AIS) is a condition that results in the partial or complete inability... more...

Description from OMIM:48 300068,300274

GeneReviews summary for androgen

Aliases & Classifications for Androgen Insensitivity Syndrome

About this section
Sources:
9Disease Ontology, 66Wikipedia, 20GeneReviews, 44NIH Rare Diseases, 22Genetics Home Reference, 11DISEASES, 46Novoseek, 50Orphanet, 63UMLS, 23GTR, 10diseasecard, 21GeneTests, 48OMIM, 40NCBI Bookshelf, 59SNOMED-CT, 28ICD9CM, 36MeSH, 37MESH via Orphanet, 27ICD10 via Orphanet, 60SNOMED-CT via Orphanet, 64UMLS via Orphanet, 26ICD10
See all sources

Classifications:



Characteristics (Orphanet epidemiological data):

50
androgen insensitivity syndrome:
Inheritance: X-linked recessive; Age of onset: Neonatal/infancy
complete androgen insensitivity syndrome:
Inheritance: X-linked recessive; Age of onset: Variable; Age of death: Normal


Aliases & Descriptions:

androgen insensitivity syndrome 9 66 20 44 22 11 46 50
testicular feminization 9 20 23 22 63
testicular feminization syndrome 9 66 44 50
androgen resistance syndrome 9 23 22 50
ais 66 44 22 50
dihydrotestosterone receptor deficiency 66 44 22
androgen receptor deficiency 44 22 63
androgen insensitivity 10 21 48
dhtr deficiency 66 44 22
androgen-insensitivity syndrome 9 63
goldberg-maxwell syndrome 9 50
ar deficiency 66 22
complete androgen insensitivity syndrome 50
tfm - testicular feminization syndrome 66
complete androgen resistance syndrome 50
goldberg - maxwell syndrome 9
feminisation - testicular 9
reifenstein syndrome 63
morris syndrome 50
cais 50
ar 40


External Ids:

Disease Ontology9 DOID:4674
ICD9CM28 259.5, 259.51
MESH via Orphanet37 D013734
ICD10 via Orphanet27 E34.5
SNOMED-CT via Orphanet60 12313004, 52832001
UMLS via Orphanet64 C0039585, C0936016
ICD1026 E34.5

Related Diseases for Androgen Insensitivity Syndrome

About this section
Sources:
18GeneCards, 19GeneDecks
See all sources

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

(show top 50)    (show all 4201)
idRelated DiseaseScoreTop Affiliating Genes
1complete androgen insensitivity syndrome31.8CYP19A1, SHBG, AR, NR1H2
2partial androgen insensitivity syndrome31.6SHBG, AR, CYP19A1
3leydig cell tumor30.8CGA, CYP19A1
4sertoli cell tumor30.7CYP19A1, AR
5pseudohermaphroditism30.7CYP19A1, SRD5A2, AR
6ovarian cancer30.6CYP19A1, SRD5A2, NR1H2, AR
7hepatocellular carcinoma30.6NR1H2, SHBG, SRD5A2, AR
8polycystic ovary syndrome30.6CYP19A1, AR, CGA, SHBG
9endometriosis30.6CGA, CYP19A1
10prostate cancer30.5AR, NR1H2, SRD5A2
11osteoporosis30.4SHBG, CYP19A1, NR1H2
12alopecia30.4SHBG, AR
13pre-eclampsia30.3AR, SHBG, CGA
14graves' disease30.3SHBG, CGA
15testicular cancer30.3CGA, SHBG
16male infertility30.3SHBG, AR
17hypospadias30.2SRD5A2, CGA, AR
18turner syndrome30.2SHBG, CGA
19endometrial carcinoma30.2SHBG, AR, CYP19A1
20breast cancer30.2AR, NR1H2, CYP19A1
21klinefelter's syndrome30.2SHBG, CYP19A1, CGA, AR
22hypogonadism30.2AR, CGA, SHBG, CYP19A1
23short stature30.1CYP19A1, SHBG
24infertility30.1SHBG, NR1H2, CGA, CYP19A1, AR
25hypopituitarism30.0CGA, SHBG
26hyperandrogenism30.0AR, CGA, SHBG, CYP19A1
27ovarian hyperstimulation syndrome30.0CYP19A1, CGA
28cryptorchidism30.0AR, CGA, SHBG, CYP19A1
29precocious puberty30.0SHBG, CGA, CYP19A1
30azoospermia30.0AR, SHBG, CGA
31gynecomastia29.9AR, CGA, SRD5A2, SHBG, CYP19A1
32germ cell cancer29.9AR, CGA
33anovulation29.9SHBG, CYP19A1, CGA
34hepatoblastoma29.9SHBG, NR1H2
35ovarian disease29.8SHBG, CGA
36hyperinsulinism29.8SHBG, NR1H2
37hyperthyroidism29.8CGA, SHBG
38obesity29.8NR1H2, AR, SHBG
39adrenal adenoma29.8CYP19A1, NR1H2
40hypothyroidism29.8SHBG, CGA
41hyperprolactinemia29.8SHBG, CGA
42prostate disease29.8AR, CYP19A1
43uterine fibroid29.7CYP19A1, SHBG
44ovarian cyst29.7CYP19A1, CGA
45embryonal cancer29.7CGA, NR1H2
46varicocele29.6SHBG, CGA
47oligospermia29.5AR, CGA
48hypogonadism, hypergonadotropic29.3CYP19A1, SHBG
49thyroid hormone resistance syndrome29.3NR1H2, SHBG
50androgenic alopecia29.2CYP19A1, SHBG, SRD5A2, AR

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



Diseases related to androgen insensitivity syndrome

Symptoms for Androgen Insensitivity Syndrome

About this section
Sources:
48OMIM, 50Orphanet
See all sources

Symptoms by clinical synopsis from OMIM:

300068

Clinical features from OMIM:

300068,300274

Symptoms:

50 (show all 15)
  • testicular/seminal neoplasm/tumor/carcinoma/cancer (excl. teratoma/germinoma)
  • contractures/cramps/trismus/tetania/claudication/opisthotonos
  • sensitive trouble/deficit
  • tremor
  • gynecomastia/breast/mammary gland enlargement/hyperplasia
  • osteoporosis/osteopenia/demineralisation/osteomalacia/rickets
  • inguinal/inguinoscrotal/crural hernia
  • tall stature/gigantism/growth acceleration
  • male pseudohermaphrodism/lack of virilisation
  • uterine/uterus/fallopian tubes anomalies
  • undescended/ectopic testes/cryptorchidia/unfixed testes
  • sterility/hypofertility
  • late puberty/hypogonadism/hypogenitalism
  • decreased body hair/axillar/pubic hairlessness
  • primary amenorrhea

Drugs & Therapeutics for Androgen Insensitivity Syndrome

About this section
Sources:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials, 63UMLS, 42NDF-RT
See all sources

Approved drugs:

Search CenterWatch for Androgen Insensitivity Syndrome

Drug clinical trials:

Search ClinicalTrials for Androgen Insensitivity Syndrome

Search NIH Clinical Center for Androgen Insensitivity Syndrome

Search CenterWatch for Androgen Insensitivity Syndrome

Genetic Tests for Androgen Insensitivity Syndrome

About this section
Sources:
21GeneTests, 23GTR
See all sources

Genetic tests related to Androgen Insensitivity Syndrome:

id Genetic test Affiliating Genes
1 Androgen Insensitivity Syndrome21 AR
2 Androgen Resistance Syndrome23
3 Testicular Feminization23

Anatomical Context for Androgen Insensitivity Syndrome

About this section
Sources:
34MalaCards
See all sources

MalaCards organs/tissues related to Androgen Insensitivity Syndrome:

34
Testes, Breast, Uterus, Bone, Skin, Prostate, Pituitary, Kidney, Testis

Animal Models for Androgen Insensitivity Syndrome or affiliated genes

About this section
Sources:
38MGI
See all sources

MGI Mouse Phenotypes related to Androgen Insensitivity Syndrome:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053897.6SRD5A2, NR1H2, CGA, AR, CYP19A1
2MP:00053797.3AR, CGA, NR1H2, SRD5A2, CYP19A1

Publications for Androgen Insensitivity Syndrome

About this section
Sources:
53PubMed
See all sources

Articles related to Androgen Insensitivity Syndrome:

(show top 50)    (show all 363)
idTitleAuthorsYear
1
A novel arg616Cys mutation in the DNA-binding domain of complete androgen insensitivity syndrome in a Chinese family. (24229697)
2013
2
Complete androgen insensitivity syndrome: a rare case of disorder of sex development. (23533861)
2013
3
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
4
Male patients with partial androgen insensitivity syndrome: a longitudinal follow-up of growth, reproductive hormones and the development of gynaecomastia. (22412043)
2012
5
Prenatal diagnosis of partial androgen insensitivity syndrome by means of a 4-D ultrasound technique. (22260757)
2012
6
Androgen insensitivity syndrome. (23044881)
2012
7
Community screening leading to the diagnosis of androgen insensitivity syndrome at the age of 65. (24371658)
2012
8
Timing of gonadectomy in adult women with complete androgen insensitivity syndrome (CAIS): patient preferences and clinical evidence. (22211628)
2012
9
A novel nonsense mutation in the N-terminal domain of the androgen receptor gene causes complete androgen insensitivity syndrome. (22943730)
2012
10
Ultrasound findings in a rare case of inguinal testicular torsion in a female with complete androgen insensitivity syndrome. (21998027)
2012
11
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
12
A large advanced seminoma in an older woman with androgen insensitivity syndrome. (22384429)
2011
13
Complete androgen insensitivity syndrome: an anatomic evaluation and sexual function questionnaire pilot study. (20719566)
2011
14
Familial complete androgen insensitivity syndrome with prostatic tissue and seminal vesicles. (20602105)
2010
15
S578N mutation of the androgen receptor in an adolescent with complete androgen insensitivity syndrome. (20819612)
2010
16
Apparent male gender identity in a patient with complete androgen insensitivity syndrome. (19636694)
2009
17
Prenatal diagnosis of androgen insensitivity syndrome. (19844078)
2009
18
Identification of a critical novel mutation in the exon 1 of androgen receptor gene in 2 brothers with complete androgen insensitivity syndrome. (19023143)
2009
19
Novel missense mutation in the P-box of androgen receptor in a patient with androgen insensitivity syndrome. (18270433)
2008
20
In-vitro characterization of androgen receptor mutations associated with complete androgen insensitivity syndrome reveals distinct functional deficits. (18577874)
2008
21
Testicular development in the complete androgen insensitivity syndrome. (16400621)
2006
22
Partial androgen insensitivity syndrome with thermolability in the androgen receptor. (16448442)
2006
23
Gene symbol: AR. Disease: androgen insensitivity syndrome. (17128486)
2006
24
Complete androgen insensitivity syndrome: report of a case with solitary pelvic kidney. (16604972)
2006
25
Partial androgen insensitivity syndrome with R840H mutation in androgen receptor: report of one case. (16302589)
2005
26
Partial androgen insensitivity syndrome. (23256957)
2005
27
Androgen insensitivity syndrome: somatic mosaicism of the androgen receptor in seven families and consequences for sex assignment and genetic counseling. (15522944)
2005
28
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
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
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
31
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
32
Phenotypic variation in a family with partial androgen insensitivity syndrome explained by differences in 5alpha dihydrotestosterone availability. (11238515)
2001
33
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
34
Novel amino acid substitutional mutation, tyrosine-739-aspartic acid, in the androgen receptor gene in complete androgen insensitivity syndrome. (11380707)
2001
35
Phenotypic features, androgen receptor binding, and mutational analysis in 278 clinical cases reported as androgen insensitivity syndrome. (10690872)
2000
36
A substitutional mutation in the DNA binding domain of the androgen receptor causes complete androgen insensitivity syndrome. (10599549)
1999
37
Wide variation in androgen receptor dysfunction in complete androgen insensitivity syndrome. (9328206)
1997
38
Androgen insensitivity syndrome: a survey of diagnostic procedures and management in the UK. (9389232)
1997
39
Mosaicism due to a somatic mutation of the androgen receptor gene determines phenotype in androgen insensitivity syndrome. (9360511)
1997
40
Sex, lies and androgen insensitivity syndrome. (8653640)
1996
41
Medical ethics and truth telling in the case of androgen insensitivity syndrome. (8630847)
1996
42
Laparoscopic gonadectomy in a woman with complete androgen insensitivity syndrome. (9050649)
1996
43
Corpus albicans-like structures in the gonads in androgen insensitivity syndrome. (8786209)
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
Molecular analysis of the androgen receptor gene in 52 patients with complete or partial androgen insensitivity syndrome: a collaborative study. (1356901)
1992
48
Development of male gender identity/role and a sexual orientation towards women in a 46,XY subject with an incomplete form of the androgen insensitivity syndrome. (1747041)
1991
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

About this section
Sources:
65UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar)
See all sources

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

65 (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:

1 (show all 19)
id Gene Name Type Significance SNP ID Assembly Location
1ARNM_000044.3(AR): c.2291A> G (p.Tyr764Cys)single nucleotide variantPathogenicrs137852567GRCh37Chr X, 66937437: 66937437
2ARNM_000044.3(AR): c.1789G> A (p.Ala597Thr)single nucleotide variantPathogenicrs137852569GRCh37Chr X, 66905872: 66905872
3ARNM_000044.3(AR): c.2571C> G (p.Phe857Leu)single nucleotide variantPathogenicrs137852598GRCh37Chr X, 66942790: 66942790
4ARNM_000044.3(AR): c.1823G> A (p.Arg608Gln)single nucleotide variantPathogenicrs137852573GRCh37Chr X, 66905906: 66905906
5ARNM_000044.3(AR): c.2599G> T (p.Val867Leu)single nucleotide variantPathogenicrs137852564GRCh37Chr X, 66942818: 66942818
6ARNM_000044.3(AR): c.2567G> A (p.Arg856His)single nucleotide variantPathogenicrs9332971GRCh37Chr X, 66942786: 66942786
7ARNM_000044.3(AR): c.2522G> A (p.Arg841His)single nucleotide variantPathogenicrs9332969GRCh37Chr X, 66942741: 66942741
8ARNM_000044.3(AR): c.2521C> T (p.Arg841Cys)single nucleotide variantPathogenicrs137852577GRCh37Chr X, 66942740: 66942740
9ARNM_000044.3(AR): c.4G> A (p.Glu2Lys)single nucleotide variantPathogenicrs104894742GRCh37Chr X, 66764992: 66764992
10ARNM_000044.3(AR): c.521T> G (p.Leu174Ter)single nucleotide variantPathogenicrs137852590GRCh37Chr X, 66765509: 66765509
11ARNM_000044.3(AR): c.2395C> G (p.Gln799Glu)single nucleotide variantPathogenicrs137852591GRCh37Chr X, 66941751: 66941751
12ARNM_000044.3(AR): c.2423T> C (p.Met808Thr)single nucleotide variantPathogenicrs137852592GRCh37Chr X, 66941779: 66941779
13ARNM_000044.3(AR): c.2667C> T (p.Ser889=)single nucleotide variantPathogenicrs137852594GRCh37Chr X, 66943587: 66943587
14ARNM_000044.3(AR): c.2137C> T (p.Leu713Phe)single nucleotide variantPathogenicrs137852595GRCh37Chr X, 66931495: 66931495
15ARNM_000044.3(AR): c.1732G> A (p.Gly578Arg)single nucleotide variantPathogenicrs137852596GRCh37Chr X, 66863213: 66863213
16ARNM_000044.3(AR): c.2596T> C (p.Ser866Pro)single nucleotide variantPathogenicrs137852597GRCh37Chr X, 66942815: 66942815
17ARNM_000044.3(AR): c.2231G> T (p.Gly744Val)single nucleotide variantPathogenicrs137852600GRCh37Chr X, 66937377: 66937377
18ARNM_000044.3(AR): c.2222C> G (p.Ser741Cys)single nucleotide variantPathogenicrs137852601GRCh37Chr X, 66937368: 66937368
19ARNM_000044.3(AR): c.1937C> A (p.Ala646Asp)single nucleotide variantPathogenicrs1800053GRCh37Chr X, 66931295: 66931295

Expression for genes affiliated with Androgen Insensitivity Syndrome

About this section
Sources:
2BioGPS, 16Gene Expression Omnibus DataSets
See all sources
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

About this section
Sources:
51PathCards, 54QIAGEN, 39NCBI BioSystems Database, 56Reactome, 61Thomson Reuters, 31KEGG
See all sources

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 Receptors39
9.5AR, NR1H2
4
Show member pathways
Translation Non genomic rapid action of Androgen Receptor61
9.4AR, SRD5A2
5
Show member pathways
Glucocorticoid andamp; Mineralcorticoid Metabolism39
9.3CYP19A1, SRD5A2
6
Show member pathways
estradiol biosynthesis II39
androgen biosynthesis39
estradiol biosynthesis I39
progesterone biosynthesis39
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

About this section
Sources:
46Novoseek, 25HMDB, 52PharmGKB, 62Tocris Bioscience, 12DrugBank, 30IUPHAR, 3BitterDB
See all sources

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

(show top 50)    (show all 118)
idCompoundScoreTop Affiliating Genes
1vorozole469.7SHBG, CYP19A1
2vinclozolin469.7CYP19A1, AR
3ment469.5SHBG, CYP19A1
4androstenediol469.5AR, CYP19A1, SHBG
5nandrolone46 2510.5SHBG, CYP19A1, AR
65alpha-androstane-3alpha,17beta-diol469.4CYP19A1, SHBG, AR
7exemestane46 52 62 1212.4AR, CYP19A1, SHBG
8danazol46 25 1211.4SHBG, CYP19A1, AR
9levonorgestrel46 62 30 1212.4SHBG, CYP19A1, AR
10bisphenol a469.3CYP19A1, AR, NR1H2
11epitestosterone469.3CGA, SHBG
12dutasteride46 1210.3CYP19A1, SRD5A2, AR
13bicalutamide46 62 1211.3NR1H2, AR, CYP19A1
14steroidal469.2NR1H2, AR, CYP19A1
15raloxifene46 52 30 1212.2NR1H2, SHBG, CYP19A1
16hydroxyflutamide46 3010.1CGA, SHBG, AR
17dhea469.1AR, SHBG, CYP19A1
18goserelin46 30 1211.0CGA, SHBG, CYP19A1
19leuprolide acetate469.0SHBG, CYP19A1, CGA
20cyproteroneacetate469.0SHBG, CYP19A1, NR1H2, AR
21anastrozole46 52 1211.0CYP19A1, SHBG, CGA
22clomiphene citrate469.0CYP19A1, CGA, SHBG
23ketoconazole46 30 25 1212.0SHBG, CYP19A1, AR, NR1H2
24progestins469.0CYP19A1, SHBG, NR1H2, AR
2517-hydroxyprogesterone46 259.9CYP19A1, CGA, SHBG
26estrone46 30 25 1211.9NR1H2, AR, CYP19A1, SHBG
27finasteride46 62 25 1211.9SHBG, CYP19A1, AR, SRD5A2
28letrozole46 52 62 1211.7SHBG, AR, CGA, CYP19A1
29diethylstilbestrol46 30 1210.7SHBG, CYP19A1, CGA, AR
30dehydroepiandrosterone sulfate468.7SHBG, CGA, AR, CYP19A1
31genistein46 30 62 3 25 1213.6NR1H2, SHBG, AR, CYP19A1
32metformin46 52 1210.5CYP19A1, NR1H2, SHBG, CGA
333beta-hydroxysteroid468.5AR, CYP19A1, SRD5A2, CGA
3417beta-hydroxysteroid468.5CYP19A1, SRD5A2, AR, CGA
35triiodothyronine468.4CGA, NR1H2, SHBG
36flutamide46 62 1210.2CGA, CYP19A1, SHBG, NR1H2, AR
37progestin468.2NR1H2, SHBG, CYP19A1, CGA, AR
38mifepristone46 30 62 1211.2CGA, SHBG, AR, NR1H2, CYP19A1
39gnrh468.2AR, CGA, NR1H2, CYP19A1, SHBG
40tamoxifen46 52 30 1211.1AR, CGA, NR1H2, SHBG, CYP19A1
41pge2468.1CYP19A1, NR1H2, CGA, AR
42androstenedione46 259.1CYP19A1, SHBG, SRD5A2, AR, CGA
43dihydrotestosterone46 30 25 1210.6SRD5A2, SHBG, AR, CYP19A1, CGA, NR1H2
44vitamin d467.6SHBG, SRD5A2, NR1H2, CYP19A1, AR, CGA
45estradiol46 25 129.6NR1H2, CGA, SHBG, SRD5A2, CYP19A1, AR
46progesterone46 30 62 25 1211.5NR1H2, SHBG, CYP19A1, SRD5A2, CGA, AR
47testosterone46 62 25 1210.5NR1H2, CGA, CYP19A1, AR, SHBG, SRD5A2
48steroid467.5AR, CGA, CYP19A1, SHBG, SRD5A2, NR1H2
49arginine467.5SHBG, CGA, AR, NR1H2, SRD5A2, CYP19A1
50estrogen467.5SHBG, SRD5A2, AR, CYP19A1, NR1H2, CGA

GO Terms for genes affiliated with Androgen Insensitivity Syndrome

About this section
Sources:
17Gene Ontology
See all sources

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

About this section
  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Androgen Insensitivity Syndrome

About this section
4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet