AR
MCID: AND002
MIFTS: 88

Androgen Insensitivity Syndrome (AR) malady

Endocrine diseases, Reproductive diseases, Fetal diseases categories

Summaries for Androgen Insensitivity Syndrome

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8Disease Ontology, 21Genetics Home Reference, 42NIH Rare Diseases, 63Wikipedia, 46OMIM, 19GeneReviews, 32MalaCards
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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: Androgen Insensitivity Syndrome, also known as androgen resistance syndrome, is related to partial androgen insensitivity syndrome and pancreatitis, 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 Nongenotropic Androgen signaling and Androgen biosynthesis. The compounds estrogen and Drostanolone 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 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:63 Androgen insensitivity syndrome (AIS) is a condition that results in the partial or complete inability... more...

Description from OMIM:46 300068,300274

GeneReviews summary for androgen

Aliases & Classifications for Androgen Insensitivity Syndrome

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8Disease Ontology, 63Wikipedia, 19GeneReviews, 42NIH Rare Diseases, 21Genetics Home Reference, 10DISEASES, 44Novoseek, 48Orphanet, 60UMLS, 22GTR, 9diseasecard, 20GeneTests, 46OMIM, 38NCBI Bookshelf, 56SNOMED-CT, 34MeSH, 27ICD9CM, 35MESH via Orphanet, 26ICD10 via Orphanet, 57SNOMED-CT via Orphanet, 61UMLS via Orphanet, 25ICD10
See all sources

Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Fetal diseases
Anatomical: Endocrine diseases, Reproductive diseases


Characteristics (Orphanet epidemiological data):

48
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 8 63 19 42 21 10 44 48
androgen resistance syndrome 8 19 22 21 48
testicular feminization 8 19 22 21 60
testicular feminization syndrome 8 63 42 48
ais 63 42 21 48
dihydrotestosterone receptor deficiency 63 42 21
androgen receptor deficiency 42 21 60
androgen insensitivity 9 20 46
dhtr deficiency 63 42 21
androgen-insensitivity syndrome 8 60
goldberg-maxwell syndrome 8 48
ar deficiency 63 21
complete androgen insensitivity syndrome 48
tfm - testicular feminization syndrome 63
complete androgen resistance syndrome 48
goldberg - maxwell syndrome 8
feminisation - testicular 8
reifenstein syndrome 60
morris syndrome 48
cais 48
ar 38


External Ids:

Disease Ontology8 DOID:4674
ICD9CM27 259.5, 259.51
MESH via Orphanet35 D013734
ICD10 via Orphanet26 E34.5
SNOMED-CT via Orphanet57 12313004, 52832001
UMLS via Orphanet61 C0039585, C0936016
ICD1025 E34.5

Related Diseases for Androgen Insensitivity Syndrome

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17GeneCards, 18GeneDecks
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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 4100)
idRelated DiseaseScoreTop Affiliating Genes
1partial androgen insensitivity syndrome31.0AR, SHBG, CYP19A1, SRD5A1, LYVE1
2pancreatitis30.9ALPPL2
3complete androgen insensitivity syndrome30.9AR, SHBG, NR1H2, CYP19A1, LYVE1
4colorectal cancer30.8AREGB, AREG, FDXR, ALPPL2, LYVE1
5sertoli cell tumor30.8CYP19A1, AR
6leydig cell tumor30.7SRD5A1, CYP19A1, NR5A1, CGA
7ovarian cancer30.7AREG, AR, NR1H2, CYP19A1, LNPEP, SRD5A2
8hepatocellular carcinoma30.6AREG, AR, SHBG, NR1H2, SRD5A2, ALPPL2
9polycystic ovary syndrome30.6SRD5A1, CYP19A1, SHBG, CGA, AR
10pseudohermaphroditism30.6HSD17B1P1, AR, CYP19A1, SRY, SRD5A2
11atherosclerosis30.6SHBG, NR1H2, LYVE1
12prostatitis30.5SRD5A1
13gonadal dysgenesis30.5NR5A1, SRY
14adenoma30.5AREG, CGA, SHBG, NR5A1, SRD5A1
15colon cancer30.5AREG, NR1H2, FDXR, ALDH1A1, ALPPL2
16endometriosis30.5HSD17B1P1, CGA, NR5A1, CYP19A1
17leiomyoma30.4ALDH1A1, CYP19A1
18prostate cancer30.4AR, SRD5A1
19diabetes mellitus30.4ALPPL2, SHBG
20osteoporosis30.3ALPPL2, CYP19A1, NR1H2, SHBG
21pre-eclampsia30.3LNPEP
22alopecia30.2SHBG, AR
23male infertility30.2SHBG, AR
24hermaphroditism30.2SRY
25amenorrhea30.2SRY, SHBG
26testicular cancer30.2ALPPL2, SHBG, CGA
27congenital adrenal hyperplasia30.2NR5A1, CYP19A1, SRY, SRD5A1
28hypogonadism30.2AR, CGA, SHBG, NR5A1, CYP19A1
29klinefelter's syndrome30.2AR, CGA, SHBG, NR5A1, CYP19A1, SRD5A1
30hypospadias30.2AR, CGA, NR5A1, SRY, SRD5A1, SRD5A2
31endometrial carcinoma30.2HSD17B1P1, AREG, AR, SHBG, CYP19A1
32infertility30.2AR, CGA, SHBG, NR5A1, NR1H2, CYP19A1
33turner syndrome30.2SRY, SHBG, CGA
34adenocarcinoma30.1AREG, AR, NR5A1, LNPEP, SRD5A1
35mixed gonadal dysgenesis30.1HSD17B1P1
36acne30.1SHBG
37hyperandrogenism30.1AR, CGA, SHBG, CYP19A1, SRD5A1
38breast cancer30.1AREG, AR, SHBG, NR1H2, CYP19A1, SRD5A1
39prostate disease30.1SRD5A1, CYP19A1, AR
40melanoma30.1SRD5A1, NR1H2, AREG
41gynecomastia30.1SRD5A2, SRD5A1, SRY, CYP19A1, SHBG, CGA
42pituitary adenoma30.0NR5A1, CGA
43conduct disorder30.0CGA
44azoospermia30.0AR, CGA, SHBG, SRY, SRD5A1, PTGDS
45cryptorchidism30.0AR, CGA, SHBG, NR5A1, CYP19A1, SRY
46skin disease30.0ALPPL2
47thyroiditis29.9CGA
48papilloma29.9NR1H2, AREG
49adrenoleukodystrophy29.9NR5A1
50hypopituitarism29.9SHBG, CGA

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



Diseases related to androgen insensitivity syndrome

Clinical Features for Androgen Insensitivity Syndrome

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46OMIM, 48Orphanet
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Clinical features from OMIM:

300068,300274

Clinical synopsis from OMIM:

300068

Symptoms:

48 (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

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
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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

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20GeneTests, 22GTR
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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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32MalaCards
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MalaCards organs/tissues related to Androgen Insensitivity Syndrome:

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

Animal Models for Androgen Insensitivity Syndrome or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Androgen Insensitivity Syndrome:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053899.1AR, CGA, NR5A1, NR1H2, CYP19A1, SRY
2MP:00053798.6ALDH1A1, AREG, AR, CGA, NR5A1, NR1H2

Publications for Androgen Insensitivity Syndrome

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50PubMed
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Articles related to Androgen Insensitivity Syndrome:

(show top 50)    (show all 370)
idTitleAuthorsYear
1
Complete androgen insensitivity syndrome: a rare case of disorder of sex development. (23533861)
2013
2
Variable loss of functional activities of androgen receptor mutants in patients with androgen insensitivity syndrome. (23774508)
2013
3
Male patients with partial androgen insensitivity syndrome: a longitudinal follow-up of growth, reproductive hormones and the development of gynaecomastia. (22412043)
2012
4
Prenatal diagnosis of partial androgen insensitivity syndrome by means of a 4-D ultrasound technique. (22260757)
2012
5
A novel nonsense mutation in the androgen receptor gene causes the complete androgen insensitivity syndrome. (21757511)
2012
6
The use of mouth brushings for screening girls who present with inguinal hernia for complete androgen insensitivity syndrome. (22517520)
2012
7
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
8
Androgen insensitivity syndrome: risk of malignancy and timing of surgery in a paediatric and adolescent population. (22005364)
2011
9
A double nucleotide insertion-induced frame-shift mutation of the androgen receptor gene in a familial complete androgen insensitivity syndrome. (19815331)
2010
10
Gender outcome in 46,XY complete androgen insensitivity syndrome: comment on T'Sjoen et al. (2010). (20552263)
2010
11
Torsion of the testicle in a patient with complete androgen insensitivity syndrome. (20701524)
2010
12
Phenotype, hormonal profile and genotype of subjects with partial androgen insensitivity syndrome: report of a family with four adult males and one child with disorder of sexual differentiation. (19601939)
2009
13
Clinical findings in prepubertal girls with inguinal hernia with special reference to the diagnosis of androgen insensitivity syndrome. (18752152)
2009
14
Concerns regarding gender change to male in a 46,XY child with complete androgen insensitivity syndrome: comment on Kulshreshtha et al. (2009). (19705270)
2009
15
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
16
A chemiluminescence-based assessment of androgen-binding activity in a large pedigree affected with androgen insensitivity syndrome. (17538927)
2007
17
Five novel androgen receptor gene mutations associated with complete androgen insensitivity syndrome. (16470553)
2006
18
Gene symbol: AR. Disease: androgen insensitivity syndrome. (17128485)
2006
19
Gene symbol: AR. Disease: androgen insensitivity syndrome. (17128455)
2006
20
Gene symbol: AR. Disease: androgen insensitivity syndrome. (17128457)
2006
21
Androgen insensitivity syndrome: somatic mosaicism of the androgen receptor in seven families and consequences for sex assignment and genetic counseling. (15522944)
2005
22
Complete form of androgen insensitivity syndrome in Brazilian patients due to P766A mutation in the androgen receptor]. (16544040)
2005
23
Androgen insensitivity syndrome in a thoroughbred mare (64, XY--testicular feminization). (15283519)
2004
24
Androgen insensitivity syndrome and Klinefelter's syndrome: sex and gender considerations. (15183377)
2004
25
Complete androgen insensitivity syndrome: effect on human meibomian gland secretions. (12470144)
2002
26
Characterization of a novel receptor mutation A->T at exon 4 in complete androgen insensitivity syndrome and a carrier sibling via bidirectional polymorphism sequence analysis. (11744994)
2002
27
Novel amino acid substitutional mutation, tyrosine-739-aspartic acid, in the androgen receptor gene in complete androgen insensitivity syndrome. (11380707)
2001
28
Sertoli cell tumor in androgen insensitivity syndrome--a case report. (10600312)
1999
29
Bilateral MA1llerian duct remnants. A scanning electron microscope study in a case of complete androgen insensitivity syndrome. (15512392)
1999
30
Shortage of glutamine (CAG) homopolymeric repeats suppresses the expression of the androgen receptor in familial cases with complete androgen insensitivity syndrome. (9526703)
1998
31
Wide variation in androgen receptor dysfunction in complete androgen insensitivity syndrome. (9328206)
1997
32
Mosaicism due to a somatic mutation of the androgen receptor gene determines phenotype in androgen insensitivity syndrome. (9360511)
1997
33
Complete androgen insensitivity syndrome. Molecular characterization in two Chinese women. (9252933)
1997
34
Androgen insensitivity with mental retardation: a contiguous gene syndrome? (9039995)
1997
35
Removal of gonads in Y-chromosome-bearing gonadal dysgenesis and in androgen insensitivity syndrome by laparoscopic surgery. (8661793)
1996
36
Genetic counselling in complete androgen insensitivity syndrome: trinucleotide repeat polymorphisms, single-strand conformation polymorphism and direct detection of two novel mutations in the androgen receptor gene. (7641413)
1995
37
An unusual presentation of complete androgen insensitivity syndrome in general practice. (7715876)
1995
38
Characterization of mutant androgen receptors causing partial androgen insensitivity syndrome. (8126121)
1994
39
Single nucleotide substitution of the androgen receptor gene in a case with receptor-positive androgen insensitivity syndrome (complete form). (8498155)
1993
40
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
41
Isolation of human Leydig cell mesenchymal precursors from patients with the androgen insensitivity syndrome: testosterone production and response to human chorionic gonadotropin stimulation in culture. (1591335)
1992
42
Association of the Hind III polymorphism with the androgen receptor gene in partial androgen insensitivity syndrome. (1683208)
1991
43
Malignant sex cord-stromal tumour in a patient with the androgen insensitivity syndrome. (2332212)
1990
44
Improvement of spermatogenesis after treatment with the antiestrogen tamoxifen in a man with the incomplete androgen insensitivity syndrome. (2566621)
1989
45
Seminoma in pubertal patient with androgen insensitivity syndrome. (2782332)
1989
46
Radio gas chromatography for evaluation of sub-cellular hormone synthesis in the androgen insensitivity syndrome. (3624362)
1987
47
The modulating effect of estrogens on luteinizing hormone release in complete androgen insensitivity syndrome before and after gonadectomy and cyclic steroid application. (2444447)
1987
48
Androgen binding in nuclear matrix of human genital skin fibroblasts from patients with androgen insensitivity syndrome. (3944238)
1986
49
Androgen insensitivity syndrome: gonadal androgen receptor activity. (6333820)
1984
50
Phenotypic variation in a family with partial androgen insensitivity syndrome. (6246795)
1980

Genetic Variations for Androgen Insensitivity Syndrome

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62UniProtKB/Swiss-Prot
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Genetic disease variations for Androgen Insensitivity Syndrome:

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

Expression for genes affiliated with Androgen Insensitivity Syndrome

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1BioGPS, 15Gene Expression Omnibus DataSets
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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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37NCBI BioSystems Database, 53Reactome, 12EMD Millipore, 51QIAGEN, 29KEGG
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Pathways related to Androgen Insensitivity Syndrome according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
110.2SHBG, AR
2
Hide members
10.1SRD5A2, SRD5A1
3
Transcription Role of VDR in regulation of genes involved in osteoporosis
Hide members
10.1CYP19A1, CGA, AR
410.1SRY, SHBG, AR
5
Hide members
10.1AR, NR5A1, NR1H2
6
Transcription Androgen Receptor nuclear signaling
Hide members
10.0AR, SRD5A1, SRD5A2
7
Hide members
10.0CYP19A1, SRD5A1, SRD5A2
89.8CYP19A1, CGA, AREG, AREGB
9
Hide members
9.4SRD5A1, SRD5A2, PTGDS, ALDH1A1, ALPPL2, LYVE1

Compounds for genes affiliated with Androgen Insensitivity Syndrome

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44Novoseek, 11DrugBank, 49PharmGKB, 59Tocris Bioscience, 28IUPHAR, 24HMDB
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Compounds related to Androgen Insensitivity Syndrome according to GeneCards/GeneDecks:

(show top 50)    (show all 117)
idCompoundScoreTop Affiliating Genes
1estrogen4410.5NR5A1, SRD5A1
2Drostanolone1110.4AR, CYP19A1, SHBG
3epitestosterone4410.3SRD5A1, CGA, SHBG
4pge24410.3LNPEP, NR5A1
5ment4410.3SRD5A1, CYP19A1, SHBG
6androstenediol4410.3AR, SHBG, CYP19A1, SRD5A1
7formestane4410.3SHBG, CYP19A1, SRD5A1
8letrozole44 49 59 1113.3SHBG, CYP19A1, CGA, AR
9dutasteride44 1111.3SRD5A2, SRD5A1, CYP19A1, AR
105alpha-androstane-3alpha,17beta-diol4410.2SRD5A1, SHBG, AR, CYP19A1
11goserelin44 28 1112.2CGA, SHBG, SRD5A1, CYP19A1
12exemestane49 44 59 1113.2SRD5A1, CYP19A1, SHBG, AR
13r18814410.2SHBG, LYVE1, AR
14atrazine4410.2SHBG, CYP19A1, NR5A1
15levonorgestrel44 59 28 1113.2SRD5A1, CYP19A1, SHBG, AR
16diethylstilbestrol44 28 1112.2NR5A1, SHBG, CGA, AR, CYP19A1
1717-hydroxyprogesterone44 2411.2SHBG, CGA, CYP19A1, SRD5A1
18norgestimate44 1111.1SRD5A1, AR, SHBG
19finasteride44 59 11 2413.1SRD5A2, SRD5A1, CYP19A1, AR, SHBG
20cl-4as-15910.1AR, AREG, AREGB, SACS, FDXR
21ketoconazole44 28 11 2413.1CYP19A1, SHBG, AR, SRD5A1, NR1H2
22progestins4410.1AR, SRD5A1, CYP19A1, NR1H2, SHBG
23nilutamide44 59 28 1113.1FDXR, AR, AREG, SACS, AREGB
24hydroxyflutamide44 2811.1AR, LYVE1, SRD5A1, SHBG, CGA
25Methyltestosterone1110.1AR, SHBG, CYP19A1
26nandrolone44 2411.1SHBG, CYP19A1, AR
27mifepristone44 59 28 1113.1NR1H2, CYP19A1, CGA, SHBG, AR
28dhea4410.0SRD5A1, CYP19A1, NR5A1, SHBG, AR
29cyproteroneacetate4410.0AR, SHBG, SRD5A1, LYVE1, CYP19A1, NR1H2
30dehydroepiandrosterone sulfate4410.0NR5A1, AR, CGA, SHBG, CYP19A1, SRD5A1
313beta-hydroxysteroid4410.0AR, CYP19A1, SRD5A1, SRD5A2, NR5A1, CGA
32estrone44 28 11 2413.0SRD5A1, CYP19A1, NR5A1, SHBG, AR, NR1H2
3317beta-hydroxysteroid4410.0CYP19A1, NR5A1, CGA, AR, SRD5A1, SRD5A2
34steroidal449.9NR1H2, LYVE1, FDXR, AR, CYP19A1, SRD5A1
35progestin449.9CYP19A1, AR, CGA, SHBG, NR1H2, FDXR
36gnrh449.8CYP19A1, SHBG, AR, CGA, NR5A1, NR1H2
37androstenedione44 2410.8LYVE1, CGA, SRD5A2, CYP19A1, SHBG, AR
38retinoid449.8PTGDS, NR1H2, ALDH1A1, SHBG, AR, NR5A1
39vitamin d449.7NR1H2, SRD5A2, AR, CYP19A1, SRD5A1, NR5A1
40androstanedione44 11 2411.7SRD5A1, CYP19A1, SRD5A2
41bicalutamide44 59 1111.5SACS, CYP19A1, AREGB, AREG, AR, NR1H2
42retinoic acid44 2410.4AR, SHBG, NR5A1, NR1H2, SRD5A1, AREG
43dihydrotestosterone44 28 11 2412.4LYVE1, SRD5A2, SRD5A1, SRY, CYP19A1, NR1H2
44arginine449.3NR1H2, LNPEP, SRD5A2, CYP19A1, CGA, AR
45cycloheximide449.2CGA, NR5A1, CYP19A1, AR, PTGDS, AREG
46estradiol44 11 2411.2NR1H2, NR5A1, SHBG, CGA, AR, AREG
47flutamide44 59 1111.2LYVE1, SRD5A1, CYP19A1, FDXR, NR1H2, SHBG
48steroid449.0FDXR, AREG, AR, CGA, SHBG, NR5A1
49progesterone44 59 28 11 2412.9AR, CGA, SHBG, NR5A1, NR1H2, FDXR
50testosterone44 59 11 2411.4FDXR, NR1H2, NR5A1, SHBG, CGA, AR

GO Terms for genes affiliated with Androgen Insensitivity Syndrome

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Sources:
16Gene Ontology
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Biological processes related to Androgen Insensitivity Syndrome according to GeneCards/GeneDecks:

(show all 9)
idNameGO IDScoreTop Affiliating Genes
1prostate gland growthGO:06073610.3AR, CYP19A1
2positive regulation of male gonad developmentGO:200002010.3SRY, NR5A1
3androgen metabolic processGO:00820910.2SRD5A2, CYP19A1
4steroid metabolic processGO:00820210.1SRD5A2, SRD5A1, CYP19A1
5male gonad developmentGO:00858410.1AR, NR5A1, SRY, SRD5A2
6androgen biosynthetic processGO:00670210.0SRD5A2, SRD5A1
7sex differentiationGO:0075489.9SRD5A1, AR
8cell-cell signalingGO:0072679.7SRD5A2, LNPEP, NR5A1, CGA, AR, AREGB
9small molecule metabolic processGO:0442819.3FDXR, CYP19A1, SRD5A1, SRD5A2, PTGDS, ALDH1A1

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

idNameGO IDScoreTop Affiliating Genes
13-oxo-5-alpha-steroid 4-dehydrogenase activityGO:00386510.1SRD5A1, SRD5A2
2androgen bindingGO:00549710.1ALDH1A1, SHBG, AR
3ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activityGO:00487910.0NR5A1, NR1H2, AR
4cholestenone 5-alpha-reductase activityGO:0477519.8SRD5A1, SRD5A2

Products for genes affiliated with Androgen Insensitivity Syndrome

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

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
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet