AR
MCID: AND002
MIFTS: 75

Androgen Insensitivity Syndrome (AR) malady

Endocrine, Reproductive, Fetal categories

Summaries for Androgen Insensitivity Syndrome

Sources:
8Disease Ontology, 21Genetics Home Reference, 43NIH Rare Diseases, 64Wikipedia, 47OMIM, 19GeneReviews, 33MalaCards
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NIH Rare Diseases:43 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 complete androgen insensitivity syndrome and partial androgen insensitivity syndrome, and has symptoms including tremor, osteoporosis/osteopenia/demineralisation/osteomalacia/rickets and inguinal/inguinoscrotal/crural hernia. 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 skin, kidney 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:64 Androgen insensitivity syndrome (AIS) is a condition that results in the partial or complete inability... more...

Description from OMIM:47 300068,300274

GeneReviews summary for androgen

Aliases & Classifications for Androgen Insensitivity Syndrome

Sources:
8Disease Ontology, 9diseasecard, 64Wikipedia, 19GeneReviews, 43NIH Rare Diseases, 20GeneTests, 22GTR, 21Genetics Home Reference, 47OMIM, 10DISEASES, 45Novoseek, 49Orphanet, 39NCBI Bookshelf, 61UMLS, 57SNOMED-CT, 35MeSH, 27ICD9CM, 36MESH via Orphanet, 26ICD10 via Orphanet, 58SNOMED-CT via Orphanet, 62UMLS via Orphanet, 25ICD10
See all sources

Classifications:

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


Characteristics (Orphanet epidemiological data):

49
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 64 19 43 21 10 45 49
androgen resistance syndrome 8 19 22 21 49
testicular feminization 8 19 22 21 61
testicular feminization syndrome 8 64 43 49
ais 64 43 21 49
dihydrotestosterone receptor deficiency 64 43 21
androgen receptor deficiency 43 21 61
androgen insensitivity 9 20 47
dhtr deficiency 64 43 21
androgen-insensitivity syndrome 8 61
goldberg-maxwell syndrome 8 49
ar deficiency 64 21
complete androgen insensitivity syndrome 49
tfm - testicular feminization syndrome 64
complete androgen resistance syndrome 49
goldberg - maxwell syndrome 8
feminisation - testicular 8
reifenstein syndrome 61
morris syndrome 49
cais 49
ar 39


External Ids:

Disease Ontology8 DOID:4674
ICD9CM27 259.5, 259.51
MESH via Orphanet36 D013734
ICD10 via Orphanet26 E34.5
SNOMED-CT via Orphanet58 12313004, 52832001
UMLS via Orphanet62 C0039585, C0936016
ICD1025 E34.5

Related Diseases for Androgen Insensitivity Syndrome

Sources:
17GeneCards, 18GeneDecks
See all sources

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

(show top 50)    (show all 4113)
idRelated DiseaseScoreTop Affiliating Genes
1complete androgen insensitivity syndrome31.8AR, SHBG, NR1H2, CYP19A1, LYVE1
2partial androgen insensitivity syndrome31.5AR, SHBG, CYP19A1, SRD5A1, LYVE1
3colorectal cancer30.9AREGB, AREG, FDXR, ALPPL2, LYVE1
4sertoli cell tumor30.9CYP19A1, AR
5atherosclerosis30.6SHBG, NR1H2, LYVE1
6polycystic ovary syndrome30.6SRD5A1, CYP19A1, SHBG, CGA, AR
7adenoma30.6AREG, CGA, SHBG, NR5A1, SRD5A1
8infertility30.5AR, CGA, SHBG, NR5A1, NR1H2, CYP19A1
9osteoporosis30.4ALPPL2, CYP19A1, NR1H2, SHBG
10alopecia30.3SHBG, AR
11thyroiditis30.2CGA
12amenorrhea30.2SRY, SHBG
13dysgerminoma30.2CGA, SRY
14testicular cancer30.2ALPPL2, SHBG, CGA
15congenital adrenal hyperplasia30.2NR5A1, CYP19A1, SRY, SRD5A1
16klinefelter's syndrome30.2AR, CGA, SHBG, NR5A1, CYP19A1, SRD5A1
17hypospadias30.2AR, CGA, NR5A1, SRY, SRD5A1, SRD5A2
18turner syndrome30.2SRY, SHBG, CGA
19adenocarcinoma30.2AREG, AR, NR5A1, LNPEP, SRD5A1
20wilms tumor30.1AREG, NR5A1, SRY, SRD5A1
21mixed gonadal dysgenesis30.1HSD17B1P1
22acne30.1SHBG
23gynecomastia30.1SRD5A2, SRD5A1, SRY, CYP19A1, SHBG, CGA
24short stature30.1SRY, CYP19A1, SHBG
25hyperandrogenism30.1AR, CGA, SHBG, CYP19A1, SRD5A1
26conduct disorder30.0CGA
27pituitary tumors30.0NR1H2
28azoospermia30.0AR, CGA, SHBG, SRY, SRD5A1, PTGDS
29cryptorchidism30.0AR, CGA, SHBG, NR5A1, CYP19A1, SRY
30adrenoleukodystrophy29.9NR5A1
31ovarian hyperstimulation syndrome29.9CYP19A1, CGA
32precocious puberty29.9CYP19A1, SHBG, CGA
33germ cell cancer29.9AR, CGA, ALPPL2
34anovulation29.9SRD5A1, CYP19A1, SHBG, CGA
35adrenal adenoma29.8NR5A1, NR1H2, CYP19A1
36muscular atrophy29.8AR
37insulin resistance29.8SHBG, NR1H2
38cholelithiasis29.8ALPPL2
39testicular disease29.7SRY
40prolactinoma29.7CGA, NR5A1
41addison's disease29.7NR1H2, NR5A1
42x-linked spinal-bulbar muscle atrophy29.7AR, LYVE1
43hyperprolactinemia29.7CGA, SHBG, SRD5A1
44fibrous dysplasia29.6ALPPL2
45oligospermia29.6AR, CGA, SRD5A1
46denys-drash syndrome29.4SRD5A1, NR5A1
47luteoma29.4CGA, SRY
48infantile onset spinocerebellar ataxia29.2SACS
49hypogonadism, hypergonadotropic29.2SHBG, CYP19A1
50thyroid hormone resistance syndrome29.2SHBG, NR1H2

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



Diseases related to androgen insensitivity syndrome

Clinical Features for Androgen Insensitivity Syndrome

Sources:
47OMIM, 49Orphanet
See all sources

Clinical features from OMIM:

300068,300274

Clinical synopsis from OMIM:

300068

Symptoms:

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

Drugs & Therapeutics for Androgen Insensitivity Syndrome

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-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

Sources:
20GeneTests, 22GTR
See all sources

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

Sources:
33MalaCards
See all sources

MalaCards organs/tissues related to Androgen Insensitivity Syndrome:

33
Skin, Kidney, Uterus, Adrenal gland, Breast, Prostate, Testis, T cells, Pituitary, Testis germ, Testis leydig

Animal Models for Androgen Insensitivity Syndrome or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
See all sources

MGI Mouse Phenotypes related to Androgen Insensitivity Syndrome:

37
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

Sources:
51PubMed
See all sources

Articles related to Androgen Insensitivity Syndrome:

(show top 50)    (show all 372)
idTitleAuthorsYear
1
Fertility after high-dose testosterone and intracytoplasmic sperm injection in a patient with androgen insensitivity syndrome with a previously unreported androgen receptor mutation. (23808476)
2013
2
Evaluation of retained testes in adolescent girls and women with complete androgen insensitivity syndrome. (23533290)
2013
3
Androgen insensitivity syndrome diagnosed in an elderly patient during a strangulated inguinal hernia repair. (24240122)
2013
4
Differentiating Swyer Syndrome and Complete Androgen Insensitivity Syndrome: A Diagnostic Dilemma. (24119655)
2013
5
Preimplantation and prenatal genetic diagnosis for androgen insensitivity syndrome resulting from a novel deletion/insertion mutation. (22332610)
2012
6
Bilateral gonadal cysts and late diagnosis of androgen insensitivity syndrome treated by laparoscopic gonadectomy. (22567497)
2011
7
46,XY disorders of sex development (46,XY DSD) due to androgen receptor defects: androgen insensitivity syndrome. (21691956)
2011
8
A novel deletion mutation in AR gene causes complete androgen insensitivity syndrome in a Chinese family]. (21154321)
2010
9
Novel missense mutation in the P-box of androgen receptor in a patient with androgen insensitivity syndrome. (18270433)
2008
10
Gene symbol: AR. Disease: Androgen insensitivity syndrome. (18386333)
2008
11
Androgen insensitivity syndrome with serous gonadal cyst. (18692803)
2008
12
Complete Androgen Insensitivity Syndrome. (18760072)
2008
13
Heterozygous mutation of steroidogenic factor-1 in 46,XY subjects may mimic partial androgen insensitivity syndrome. (17488792)
2007
14
Ethical and legal implications of genetic testing in androgen insensitivity syndrome. (17382127)
2007
15
Primary amenorrhea in a young Polish woman with complete androgen insensitivity syndrome and Sertoli-Leydig cell tumor: identification of a new androgen receptor gene mutation and evidence of aromatase hyperactivity and apoptosis dysregulation within the tumor. (17852420)
2007
16
Testicular development in the complete androgen insensitivity syndrome. (16400621)
2006
17
Complete androgen insensitivity syndrome: report of a case with solitary pelvic kidney. (16604972)
2006
18
Differentially expressed genes between a fertile patient and an infertile patient in a large Chinese androgen insensitivity syndrome pedigree]. (16733908)
2006
19
Molecular features and clinical phenotypes in androgen insensitivity syndrome in the absence and presence of androgen receptor gene mutations. (16283146)
2005
20
Revealing the diagnosis of androgen insensitivity syndrome in adulthood. (16166136)
2005
21
Partial androgen insensitivity syndrome and t(X;5): are there upstream regulatory elements of the androgen receptor gene? (15452386)
2004
22
Persistence of MA1llerian remnants in complete androgen insensitivity syndrome. (12503865)
2002
23
Editorial: The postnatal gonadotropin and sex steroid surge-insights from the androgen insensitivity syndrome. (11788615)
2002
24
Exclusion of androgen insensitivity syndrome in girls with inguinal hernias: current surgical practice. (12598968)
2002
25
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
26
Genotype versus phenotype in families with androgen insensitivity syndrome. (11549642)
2001
27
Novel point mutation in the splice donor site of exon-intron junction 6 of the androgen receptor gene in a patient with partial androgen insensitivity syndrome. (10999818)
2000
28
Complete androgen insensitivity syndrome: long-term medical, surgical, and psychosexual outcome. (10946863)
2000
29
Androgen-insensitivity syndrome as a possible coactivator disease. (10995865)
2000
30
Transcription of androgen receptor and 5alpha-reductase II in genital fibroblasts from patients with androgen insensitivity syndrome. (11282274)
2000
31
A substitutional mutation in the DNA binding domain of the androgen receptor causes complete androgen insensitivity syndrome. (10599549)
1999
32
A novel point mutation (R840S) in the androgen receptor in a Brazilian family with partial androgen insensitivity syndrome. (10502786)
1999
33
A novel E153X point mutation in the androgen receptor gene in a patient with complete androgen insensitivity syndrome. (11225909)
1999
34
Changes in bone mineral density after orchidectomy and hormone replacement therapy in individuals with androgen insensitivity syndrome. (9804237)
1998
35
Androgen insensitivity syndrome: a survey of diagnostic procedures and management in the UK. (9389232)
1997
36
Sex, lies and androgen insensitivity syndrome. (8653640)
1996
37
Corpus albicans-like structures in the gonads in androgen insensitivity syndrome. (8786209)
1996
38
A novel missense mutation in the amino-terminal domain of the human androgen receptor gene in a family with partial androgen insensitivity syndrome causes reduced efficiency of protein translation. (8823308)
1996
39
Androgen insensitivity syndrome due to new mutations in the DNA- binding domain of the androgen receptor. (8809734)
1996
40
Sex, lies and androgen insensitivity syndrome. (8653639)
1996
41
Sex, lies and androgen insensitivity syndrome. (8653636)
1996
42
Complete androgen insensitivity syndrome due to a new frameshift deletion in exon 4 of the androgen receptor gene: functional analysis of the mutant receptor. (7649349)
1995
43
Laparoscopic approach to definitive treatment of androgen insensitivity syndrome. A case report. (7966046)
1994
44
Laparoscopic gonadectomy in complete androgen insensitivity syndrome. (9050539)
1994
45
Phenotypic variation and detection of carrier status in the partial androgen insensitivity syndrome. (8099270)
1993
46
An exonic point mutation creates a MaeIII site in the androgen receptor gene of a family with complete androgen insensitivity syndrome. (8103398)
1993
47
Probing genomic deoxyribonucleic acid for gene rearrangement in 14 patients with androgen insensitivity syndrome. (2001749)
1991
48
Failure of the mA1llerian regression factor in two patients with complete androgen insensitivity syndrome. (3118446)
1987
49
Complete androgen insensitivity syndrome characterized by increased concentration of a normal androgen receptor in genital skin fibroblasts. (3088020)
1986
50
Adult erotosexual status and fetal hormonal masculinization and demasculinization: 46,XX congenital virilizing adrenal hyperplasia and 46,XY androgen-insensitivity syndrome compared. (6514935)
1984

Genetic Variations for Androgen Insensitivity Syndrome

Sources:
63UniProtKB/Swiss-Prot
See all sources

Genetic disease variations for Androgen Insensitivity Syndrome:

63 (show all 111)
id Symbol AA change Variation 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

Sources:
1BioGPS, 15Gene 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

Sources:
38NCBI BioSystems Database, 54Reactome, 12EMD Millipore, 52QIAGEN, 30KEGG
See all sources

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

Sources:
45Novoseek, 11DrugBank, 50PharmGKB, 60Tocris Bioscience, 29IUPHAR, 24HMDB
See all sources

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

(show top 50)    (show all 117)
idCompoundScoreTop Affiliating Genes
1estrogen4510.5NR5A1, SRD5A1
2Drostanolone1110.4AR, CYP19A1, SHBG
3epitestosterone4510.3SRD5A1, CGA, SHBG
4pge24510.3LNPEP, NR5A1
5ment4510.3SRD5A1, CYP19A1, SHBG
6androstenediol4510.3AR, SHBG, CYP19A1, SRD5A1
7formestane4510.3SHBG, CYP19A1, SRD5A1
8letrozole45 50 60 1113.3SHBG, CYP19A1, CGA, AR
9dutasteride45 1111.3SRD5A2, SRD5A1, CYP19A1, AR
105alpha-androstane-3alpha,17beta-diol4510.2SRD5A1, SHBG, AR, CYP19A1
11goserelin45 29 1112.2CGA, SHBG, SRD5A1, CYP19A1
12exemestane50 45 60 1113.2SRD5A1, CYP19A1, SHBG, AR
13r18814510.2SHBG, LYVE1, AR
14atrazine4510.2SHBG, CYP19A1, NR5A1
15levonorgestrel45 60 29 1113.2SRD5A1, CYP19A1, SHBG, AR
16diethylstilbestrol45 29 1112.2NR5A1, SHBG, CGA, AR, CYP19A1
1717-hydroxyprogesterone45 2411.2SHBG, CGA, CYP19A1, SRD5A1
18norgestimate45 1111.1SRD5A1, AR, SHBG
19finasteride45 60 11 2413.1SRD5A2, SRD5A1, CYP19A1, AR, SHBG
20cl-4as-16010.1AR, AREG, AREGB, SACS, FDXR
21ketoconazole45 29 11 2413.1CYP19A1, SHBG, AR, SRD5A1, NR1H2
22progestins4510.1AR, SRD5A1, CYP19A1, NR1H2, SHBG
23nilutamide45 60 29 1113.1FDXR, AR, AREG, SACS, AREGB
24hydroxyflutamide45 2911.1AR, LYVE1, SRD5A1, SHBG, CGA
25Methyltestosterone1110.1AR, SHBG, CYP19A1
26nandrolone45 2411.1SHBG, CYP19A1, AR
27mifepristone45 60 29 1113.1NR1H2, CYP19A1, CGA, SHBG, AR
28dhea4510.0SRD5A1, CYP19A1, NR5A1, SHBG, AR
29cyproteroneacetate4510.0AR, SHBG, SRD5A1, LYVE1, CYP19A1, NR1H2
30dehydroepiandrosterone sulfate4510.0NR5A1, AR, CGA, SHBG, CYP19A1, SRD5A1
313beta-hydroxysteroid4510.0AR, CYP19A1, SRD5A1, SRD5A2, NR5A1, CGA
32estrone45 29 11 2413.0SRD5A1, CYP19A1, NR5A1, SHBG, AR, NR1H2
3317beta-hydroxysteroid4510.0CYP19A1, NR5A1, CGA, AR, SRD5A1, SRD5A2
34steroidal459.9NR1H2, LYVE1, FDXR, AR, CYP19A1, SRD5A1
35progestin459.9CYP19A1, AR, CGA, SHBG, NR1H2, FDXR
36gnrh459.8CYP19A1, SHBG, AR, CGA, NR5A1, NR1H2
37androstenedione45 2410.8LYVE1, CGA, SRD5A2, CYP19A1, SHBG, AR
38retinoid459.8PTGDS, NR1H2, ALDH1A1, SHBG, AR, NR5A1
39vitamin d459.7NR1H2, SRD5A2, AR, CYP19A1, SRD5A1, NR5A1
40androstanedione45 11 2411.7SRD5A1, CYP19A1, SRD5A2
41bicalutamide45 60 1111.5SACS, CYP19A1, AREGB, AREG, AR, NR1H2
42retinoic acid45 2410.4AR, SHBG, NR5A1, NR1H2, SRD5A1, AREG
43dihydrotestosterone45 29 11 2412.4LYVE1, SRD5A2, SRD5A1, SRY, CYP19A1, NR1H2
44arginine459.3NR1H2, LNPEP, SRD5A2, CYP19A1, CGA, AR
45cycloheximide459.2CGA, NR5A1, CYP19A1, AR, PTGDS, AREG
46estradiol45 11 2411.2NR1H2, NR5A1, SHBG, CGA, AR, AREG
47flutamide45 60 1111.2LYVE1, SRD5A1, CYP19A1, FDXR, NR1H2, SHBG
48steroid459.0FDXR, AREG, AR, CGA, SHBG, NR5A1
49progesterone45 60 29 11 2412.9AR, CGA, SHBG, NR5A1, NR1H2, FDXR
50testosterone45 60 11 2411.4FDXR, NR1H2, NR5A1, SHBG, CGA, AR

GO Terms for genes affiliated with Androgen Insensitivity Syndrome

Sources:
16Gene Ontology
See all sources

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

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Androgen Insensitivity Syndrome

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet