MCID: AND015
MIFTS: 60

Androgen Insensitivity malady

Categories: Genetic diseases, Rare diseases, Endocrine diseases, Reproductive diseases

Aliases & Classifications for Androgen Insensitivity

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Aliases & Descriptions for Androgen Insensitivity:

Name: Androgen Insensitivity 49 11
Androgen Insensitivity Syndrome 10 68 21 45 22 23 47 12 67
Testicular Feminization Syndrome 10 68 45 67 24
Androgen Resistance Syndrome 10 22 23 67 24
Androgen Receptor Deficiency 45 22 23 67 65
Testicular Feminization 10 21 22 23 65
Ais 68 45 22 23 67
Dihydrotestosterone Receptor Deficiency 68 45 23 67
Dhtr Deficiency 68 45 23 67
Androgen-Insensitivity Syndrome 10 36 65
Ar Deficiency 68 23 67
 
Reifenstein Syndrome 22 65
Complete Androgen Insensitivity Syndrome 67
Tfm - Testicular Feminization Syndrome 68
Goldberg - Maxwell Syndrome 10
Androgen Insensitivity Nos 65
Feminisation - Testicular 10
Goldberg-Maxwell Syndrome 10
Androgen Receptor 11
Cais 67
Tfm 67
Ar 40

Characteristics:

HPO:

61
androgen insensitivity:
Inheritance: x-linked recessive inheritance


Classifications:



External Ids:

OMIM49 300068
Disease Ontology10 DOID:4674
ICD9CM29 259.5, 259.51
MeSH36 D013734
NCIt42 C27226
MedGen34 C0039585
UMLS65 C0039585, C0936016, C2874204 C2713546, C0268301, more

Summaries for Androgen Insensitivity

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NIH Rare Diseases:45 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 some physical traits of a woman. androgen insensitivity syndrome is caused by mutations in the ar gene and is inherited in an x-linked recessive pattern. last updated: 1/13/2016

MalaCards based summary: Androgen Insensitivity, also known as androgen insensitivity syndrome, is related to ovarian hyperstimulation syndrome and hypogonadism, and has symptoms including abnormality of female internal genitalia, cryptorchidism and male pseudohermaphroditism. An important gene associated with Androgen Insensitivity is AR (Androgen Receptor), and among its related pathways are Regulation of Androgen receptor activity and Nongenotropic Androgen signaling. Affiliated tissues include breast, testes and uterus, and related mouse phenotypes are reproductive system and endocrine/exocrine gland.

Disease Ontology:10 A sex differentiation 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.

UniProtKB/Swiss-Prot:67 Androgen insensitivity syndrome: An X-linked recessive form of pseudohermaphroditism due end-organ resistance to androgen. Affected males have female external genitalia, female breast development, blind vagina, absent uterus and female adnexa, and abdominal or inguinal testes, despite a normal 46,XY karyotype.

Genetics Home Reference:23 Androgen insensitivity syndrome is a condition that affects sexual development before birth and during puberty. People with this condition are genetically male, with one X chromosome and one Y chromosome in each cell. Because their bodies are unable to respond to certain male sex hormones (called androgens), they may have mostly female sex characteristics or signs of both male and female sexual development.

OMIM:49 The androgen insensitivity syndrome is an X-linked recessive disorder in which affected males have female external... (300068) more...

Wikipedia:68 Androgen insensitivity syndrome (AIS) is a condition that results in the partial or complete inability... more...

GeneReviews summary for NBK1429

Related Diseases for Androgen Insensitivity

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

(show top 50)    (show all 384)
idRelated DiseaseScoreTop Affiliating Genes
1ovarian hyperstimulation syndrome29.7CGA, CYP19A1
2hypogonadism29.5AR, CYP19A1, SHBG, SRY
3prostate cancer28.5ALPP, AR, CYP19A1, INHA, SHBG, SRD5A2
4leiomyoma28.3AR, CGA, CYP19A1, INHA, SHBG, SRY
5spinal and bulbar muscular atrophy of kennedy27.3ALPP, APOD, AR, CGA, CYP19A1, INHA
6androgen insensitivity, partial, with or without breast cancer12.9
7complete androgen insensitivity syndrome12.8
8androgen insensitivity syndrome, mild12.7
9familial mediterranean fever, ar12.5
10hypophosphatemic rickets, ar12.4
11immunodeficiency 27a, mycobacteriosis, ar12.4
12epidermolysis bullosa dystrophica, ar12.4
13renal tubular acidosis, distal, ar12.3
14aland island eye disease11.8
15amelogenesis imperfecta11.6
16autoimmune inner ear disease11.6
17pediatric arterial ischemic stroke11.4
18amish infantile epilepsy syndrome11.3
19adolescent idiopathic scoliosis11.3
20hypospadias 1, x-linked10.6
21hypospadias 2, x-linked10.5
22breast cancer10.4
23amelogenesis imperfecta, type ib10.4
24ehlers-danlos syndrome progeroid type10.4AR, SHBG
25scleromalacia perforans10.3AR, SHBG
26prostatitis10.3
27retroperitoneal sarcoma10.3AR, CYP19A1
28suppurative thyroiditis10.3CYP19A1, SHBG
29prostatic cyst10.3AR, CYP19A1
30hiv-110.3
31hepatitis10.3
32leukemia10.3
33adenocarcinoma10.3
34thyroiditis10.3
35endotheliitis10.3
36erythema infectiosum10.2CGA, SHBG
37hypolipoproteinemia10.2CYP19A1, SHBG
38mediastinal cancer10.2ALPP, AR
39benign prostate phyllodes tumor10.2AR, SHBG, SRD5A2
40lung cancer10.2
41melanoma10.2
42prostate adenocarcinoma10.2
43adenoma10.2
44lung disease10.2
45ataxia10.2
46mixed gonadal dysgenesis10.2SHBG, SRY
47dysmorphism-short stature-deafness-disorder of sex development syndrome10.2NR5A1, SRY
48actg2-related disorders10.2NR5A1, SRY
4948,xxxy syndrome10.2NR5A1, SRY
50craniofrontonasal dysplasia10.2AR, CYP19A1, SHBG

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



Diseases related to androgen insensitivity

Symptoms for Androgen Insensitivity

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Symptoms by clinical synopsis from OMIM:

300068

Clinical features from OMIM:

300068

HPO human phenotypes related to Androgen Insensitivity:

(show all 18)
id Description Frequency HPO Source Accession
1 abnormality of female internal genitalia hallmark (90%) HP:0000008
2 cryptorchidism hallmark (90%) HP:0000028
3 male pseudohermaphroditism hallmark (90%) HP:0000037
4 decreased fertility hallmark (90%) HP:0000144
5 abnormal hair quantity hallmark (90%) HP:0011362
6 hernia of the abdominal wall typical (50%) HP:0004299
7 testicular neoplasm occasional (7.5%) HP:0010788
8 elevated luteinizing hormone HP:0011969
9 female external genitalia in individual with 46,xy karyotype HP:0008730
10 elevated follicle stimulating hormone HP:0008232
11 neoplasm HP:0002664
12 absent facial hair HP:0002550
13 sparse pubic hair HP:0002225
14 sparse axillary hair HP:0002215
15 growth abnormality HP:0001507
16 primary amenorrhea HP:0000786
17 gynecomastia HP:0000771
18 inguinal hernia HP:0000023

Drugs & Therapeutics for Androgen Insensitivity

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Drugs for Androgen Insensitivity (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 25)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
EverolimusapprovedPhase 1, Phase 21797159351-69-66442177
Synonyms:
(1R,9S,12S,15R,16E,18R,19R,21R,23S,24E,26E,28E,30S,32S,35R)-1,18-Dihydroxy-12-((1R)-2-((1S,3R,4R)-4-(2-hydroxyethoxy)-3-methoxycyclohexyl)-1-methylethyl)-19,30-dimethoxy-15,17,21,23,29,35-hexamethyl-11,36-dioxa-4-azatricyclo(30.3.1.0(sup 4,9))hexatriaconta-16,24,26,28-tetraene-2,3,10,14,20-pentaone
(1R,9S,12S,15R,16E,18R,19R,21R,23S,24E,26E,28E,30S,32S,35R)-1,18-Dihydroxy-12-((1R)-2-((1S,3R,4R)-4-(2-hydroxyethoxy)-3-methoxycyclohexyl)-1-methylethyl)-19,30-dimethoxy-15,17,21,23,29,35-hexamethyl-11,36-dioxa-4-azatricyclo(30.3.1.04,9)hexatriaconta-16,24,26,28-tetraene-2,3,10,14,20-pentaone
(1R,9S,12S,15R,16E,23S,18R,19R,21R,23S,24E,26E,28E,30S,32S,35R)-1,18-dihydroxy-12-((1R)-2-((1S,3R,4R)-4-(2-hydroxyethoxy)-3-methoxycyclohexyl)-1-methylethyl)-19,30-dimethoxy-15,17,21,23,29,35-hexamethyl-11,36-dioxa-4-azatricyclo(30.3.1.0(sup 4,9))hexatriacont
(3S,6R,7E,9R,10R,12R,14S,15E,17E,19E,21S,23S,26R,27R,34aS)-9,10,12,13,14,21,22,23,24,25,26,27,32,33,34,34a-Hexadecahydro-9,27-dihydroxy-3-((1R)-2-((1S,3R,4R)-4-(2-hydroxyethoxy)-3-methoxycyclohexyl)-1-methylethyl)-10,21-dimethoxy-6,8,12,14,20,26-hexamethyl-23,27-epoxy-3H-pyrido(2,1-c)(1,4)oxaazacyclohentriacontine-1,5,11,28,29(4H,6H,31H)-pentone
(3S,6R,7E,9R,10R,12R,14S,15E,17E,19E,21S,23S,26R,27R,34aS)-9,27-dihydroxy-3-{(2R)-1-[(1S,3R,4R)-4-(2-hydroxyethoxy)-3-methoxycyclohexyl]propan-2-yl}-10,21-dimethoxy-6,8,12,14,20,26-hexamethyl-9,10,12,13,14,21,22,23,24,25,26,27,32,33,34,34a-hexadecahydro-3H-23,27-epoxypyrido[2,1-c][1,4]oxazacyclohentriacontine-1,5,11,28,29(4H,6H,31H)-pentone
(3S,6R,7E,9R,10R,12R,14S,15E,17E,19E,21S,23S,26R,27R,34as)-9,10,12,13,14,21,22,23,24,25,26,27,32,33,34,34a-hexadecahydro-9,27-dihydroxy-3-((1R)-2-((1S,3R,4R)-4-(2-hydroxyethoxy)-3-methoxycyclohexyl)-1-methylethyl)-10,21-dimethoxy-6,8,12,14,20,26-hexamethy
07741_FLUKA
159351-69-6
40-O-(2-hydroxyethyl)-rapamycin
42-O-(2-Hydroxyethyl)rapamycin
Afinitor
Afinitor Disperz
CERTICAN(R)
CHEMBL1201755
Certican
D02714
DB01590
 
Everolimus
Everolimus (JAN/USAN/INN)
Everolimus [USAN]
LS-143292
MolPort-003-847-342
MolPort-003-925-588
NCGC00167512-01
NVP-RAD-001
RAD 001
RAD-001
RAD-001C
RAD001
RAD001, SDZ-RAD, Certican, Zortress, Afinitor, Everolimus
S1120_Selleck
SDZ-RAD
UNII-9HW64Q8G6G
VOTUBIA
Zortress
everolimus
2
BicalutamideapprovedPhase 1, Phase 216390357-06-556069, 2375
Synonyms:
(+-)-4'-Cyano-alpha,alpha,alpha-trifluoro-3-((p-fluorophenyl)sulfonyl)-2-methyl-m-lactotoluidide
4'-cyano-3-(4-fluorophenylsulfonyl)-2-hydroxy-2-methyl-3'-(trifluoromethyl)propionanilide
90357-06-5
AC-4232
AC1L1DJE
Astra brand of bicalutamide
AstraZeneca brand of bicalutamide
BRN 5364666
Bicalutamide
Bicalutamide (JAN/USP/INN)
Bicalutamide [USAN:INN:BAN]
C053541
C08160
C18H14F4N2O4S
CHEMBL409
CID2375
CPD000466329
Casodex
Casodex (TN)
Casodex, Cosudex, Calutide, Kalumid, Bicalutamide
Cosudex
D00961
DB01128
FT-0080576
 
HMS2051B13
HMS2089N12
I06-0475
I06-0480
ICI 176334
ICI-176334
KS-1161
LS-119125
MLS000759437
MLS001424047
MolPort-003-845-034
MolPort-006-808-679
N-[4-cyano-3-(trifluoromethyl)phenyl]-3-(4-fluorophenyl)sulfonyl-2-hydroxy-2-methylpropanamide
NCGC00167977-01
NCGC00167977-02
NSC722665
Propanamide, N-[4-cyano-3-(trifluoromethyl)phenyl]-3-[(4-fluorophenyl)sulfonyl]-2-hydroxy-2-methyl-,
Raffolutil
S1190_Selleck
SAM001246612
SMR000466329
TL8005814
Zeneca brand of bicalutamide
bicalutamide
propanamide, N-[4-cyano-3-(trifluoromethyl)phenyl]-3-[(4-fluorophenyl)sulfonyl]-2-hydroxy-2-methyl-,(+-)
3
Miconazoleapproved, investigationalPhase 1, Phase 2302622916-47-84189
Synonyms:
(+-)-1-(2,4-Dichloro-beta-((2,4-dichlorobenzyl)oxy)phenethyl)imidazole
1-(2,4-Dichloro-beta-((2,4-dichlorobenzyl)oxy)phenethyl)imidazole
1-(2,4-dichloro-beta-((2,4-dichlorobenzyl)oxy)phenethyl) imidazole
1-[2,4-Dichloro- beta-([2,4-dichloro- benzyl]oxy)phenethyl]imidazole
1-[2-(2,4-Dichloro-benzyloxy)-2-(2,4-dichloro-phenyl)-ethyl]-1H-imidazole
1-[2-(2,4-Dichlorophenyl)-2-[(2,4-dichlorophenyl)methoxy]ethyl]-1H-imidazole
1-[2-(2,4-dichlorobenzyloxy)-2-(2,4-dichlorophenyl)ethyl]-1H-imidazole
1-[2-(2,4-dichlorophenyl)-2-[(2,4-dichlorophenyl)methoxy]ethyl]imidazole
1-[2-(2,4-dichlorophenyl)-2-{[(2,4-dichlorophenyl)methyl]oxy}ethyl]-1H-imidazole
1-{2-[(2,4-dichlorobenzyl)oxy]-2-(2,4-dichlorophenyl)ethyl}-1H-imidazole
22832-87-7 (NITRATE)
22916-47-8
75319-47-0
AB00053500
AC1L1HM1
AKOS001574474
Aflorix(nitrate)
Albistat(nitrate)
Andergin(nitrate)
BPBio1_000279
BRD-A82396632-001-03-0
BRD-A82396632-008-02-7
BRN 0965511
BSPBio_000253
BSPBio_002033
CCRIS 7924
CHEBI:6923
CHEMBL91
CID4189
CPD-4501
Conofite(nitrate)
D00416
DB01110
Dactarin
Daktarin IV
Daktarin iv
Desenex
DivK1c_000156
EINECS 245-324-5
Epi-Monistat(nitrate)
Femizol-M
Florid(nitrate)
Gyno-Daktar(nitrate)
HMS1568M15
HMS2090B21
I14-14342
IDI1_000156
Imidazole, 1-(2-(2,4-dichlorophenyl)-2-((2,4-dichlorophenyl)methoxy)ethyl)- (9CI)
KBio1_000156
KBio2_001445
KBio2_004013
KBio2_006581
KBio3_001533
KBioGR_000581
KBioSS_001445
LS-78378
Lotrimin AF(nitrate)
MCZ
MJR 1762
MLS002222203
Makesense
Micantin (nitrate)
Micatin
 
Miconasil Nitrate
Miconazol
Miconazol [INN-Spanish]
Miconazole
Miconazole (JP15/USP/INN)
Miconazole 3
Miconazole 3 Combination Pack
Miconazole 7 Combination Pack
Miconazole [USAN:BAN:INN:JAN]
Miconazole nitrate salt
Miconazole-7
Miconazolo
Miconazolo [DCIT]
Miconazolum
Miconazolum [INN-Latin]
Micozole
Minostate
MolPort-002-557-553
Monazole 7
Monista (nitrate)
Monistat
Monistat (TN)
Monistat 1 Combination Pack
Monistat 3 Dual-Pak
Monistat 3 Vaginal Ovules
Monistat 5 Tampon
Monistat 7 Dual-Pak
Monistat 7 Vaginal Suppositories
Monistat Dual- PAK
Monistat IV
Monistat iv (TN)
Monistat iv (tn)
Monistat-Derm
NCI60_001353
NCI60_001380
NINDS_000156
NSC 170986
NSC169434
NSC170986
Novo-Miconazole Vaginal Ovules
Oprea1_091955
Oravig
Prestwick0_000067
Prestwick1_000067
Prestwick2_000067
Prestwick3_000067
Prestwick_335
R 18134
R-14,889
Rash Relief Antifungal
SMR001307249
SPBio_000976
SPBio_002174
STK834405
STOCK1S-93556
Spectrum2_001048
Spectrum3_000507
Spectrum4_000061
Spectrum5_001297
Spectrum_000965
UNII-7NNO0D7S5M
Vusion
Zimycan
imidazole, 1-(2-(2,4-dichlorophenyl)-2-((2,4-dichlorophenyl) methoxy)ethyl)- (9CI)
miconazole
4
Sirolimusapproved, investigationalPhase 1, Phase 2179753123-88-95284616, 6436030, 46835353
Synonyms:
(-)-Rapamycin
(-)-rapamycin
1fkb
1pbk
23,27-Epoxy-3H-pyrido(2,1-c)(1,4)oxaazacyclohentriacontine
23,27-Epoxy-3H-pyrido[2,1-c][1,4]oxaazacyclohentriacontine
23,27-epoxy-3H-pyrido[2,1-c][1,4]oxaazacyclohentriacontine-1,5,11,28,29
3H-pyrido(2,1-c)(1,4)oxaazacyclohentriacontine-1,5,11,28,29(4H,6H,31H)-pentone
53123-88-9
A422989, NSC226080
AC-722
AC1L1JH9
AC1L7MJ9
AC1L9ZMV
AY 22989
AY-22989
AY22989
Ambotz53123-88-9
Antibiotic AY 22989
BIDD:PXR0165
Bio1_000293
Bio1_000782
Bio1_001271
Bio2_000375
Bio2_000855
BiomolKI2_000084
C07909
C51H79NO13
CBiol_002007
CCRIS 9024
CHEBI:100923
CHEBI:9168
CHEMBL413
CID10213190
CID10795871
CID11949238
CID11959112
CID313006
CID478951
CID5040
CID5284616
CID5358081
CID5374464
CID5460439
CID5497196
CID5924240
CID6436030
CID6610270
CID6610346
CID6711160
CID6713081
CID9833581
CID9854379
CID9854380
CID9962926
CID9962928
D00753
DB00877
DE-109
DivK1c_006936
 
FT-0082351
HMS2089A21
HSDB 7284
KBio1_001880
KBio2_000410
KBio2_002978
KBio2_005546
KBio3_000779
KBio3_000780
KBioGR_000410
KBioSS_000410
LCP-Siro
LMPK06000003
LS-143290
MLS000028373
MS-R001
MolMap_000043
MolPort-003-959-433
NCGC00021305-05
NCI60_001851
NCIMech_000355
NSC 226080
NSC226080
Perceiva
QTL1_000069
R0395_SIAL
R0395_SIGMA
RAP
RAPA
RPM
Rapammune
Rapamune
Rapamune (TN)
Rapamycin
Rapamycin (TN)
Rapamycin C-7, analog 4
Rapamycin Immunosuppressant Drug
Rapamycin from Streptomyces hygroscopicus
S1039_Selleck
SIIA 9268A
SILA 9268A
SILA9268A
SMP1_000255
SMR000058564
Sirolimus
Sirolimus (RAPAMUNE)
Sirolimus (USAN/INN)
Sirolimus [USAN:BAN:INN]
Sirolimus, Rapamune,Rapamycin
SpecPlus_000840
UNII-W36ZG6FT64
UNM-0000358684
WY-090217
Wy 090217
heptadecahydro-9,27-dihydroxy-3-[(1R)-2-[(1S,3R,4R)-4-hydroxy
nchembio.100-comp4
nchembio.2007.42-comp2
nchembio.79-comp1
nchembio762-comp1
nchembio883-comp3
rapamycin
sirolimus
5AndrogensPhase 1, Phase 21162
6HormonesPhase 1, Phase 211748
7Hormones, Hormone Substitutes, and Hormone AntagonistsPhase 1, Phase 29988
8Hormone AntagonistsPhase 1, Phase 210002
9Androgen AntagonistsPhase 1, Phase 2252
10Immunologic FactorsPhase 1, Phase 218483
11Immunosuppressive AgentsPhase 1, Phase 210422
12Anti-Infective AgentsPhase 1, Phase 217220
13Antibiotics, AntitubercularPhase 1, Phase 25971
14Anti-Bacterial AgentsPhase 1, Phase 29140
15Antifungal AgentsPhase 1, Phase 23015
16
Testosteroneapproved, investigational47458-22-06013
Synonyms:
(+)-testosterone
(+-)-8-iso-testosterone
(+-)-retrotestosterone
(+-)-testosterone
(17b)-17-hydroxy-androst-4-en-3-one
(17beta)-17-Hydroxyandrost-4-en-3-one
(8R,9S,10R,13S,14S,17S)-17-hydroxy-10,13-dimethyl-1,2,6,7,8,9,11,12,14,15,16,17-dodecahydrocyclopenta[a]phenanthren-3-one
13-Iso-testosterone
17-Hydroxy-(17-beta)-androst-4-en-3-one
17-Hydroxy-(17beta)-androst-4-en-3-one
17-Hydroxy-10,13-dimethyl-1,2,6,7,8,9,10,11,12,13,14,15,16,17-tetradecahydro-cyclopenta[a]phenanthren-3-one
17-Hydroxy-D4-androsten-3-one
17-Hydroxy-androst-4-en-3-one
17-beta-Hydroxy-delta(sup 4)-androsten-3-one
17-beta-Hydroxyandrost-4-en-3-one
17?-Hydroxy-4-androsten-3-one
17a-Hydroxy-(13a)-androst-4-en-3-one
17a-Hydroxy-13a-androst-4-en-3-one
17a-Hydroxy-14b-androst-4-en-3-one
17a-Hydroxy-androst-4-en-3-one
17b-Hydroxy-(10a)-androst-4-en-3-one
17b-Hydroxy-(13a)-androst-4-en-3-one
17b-Hydroxy-(8a)-androst-4-en-3-one
17b-Hydroxy-(8a,10a)-androst-4-en-3-one
17b-Hydroxy-(9b)-androst-4-en-3-one
17b-Hydroxy-(9b,10a)-androst-4-en-3-one
17b-Hydroxy-13a-androst-4-en-3-one
17b-Hydroxy-8a-androst-4-en-3-one
17b-Hydroxy-D4-androsten-3-one
17b-Hydroxy-androst-4-en-3-on
17b-Hydroxy-androst-4-en-3-one
17b-Hydroxyandrost-4-en-3-one
17b-Hydroxyandrost-4-ene-3-one
17b-Testosterone
17b-hydroxy-4-androsten-3-one
17beta-Hydroxy-3-oxo-4-androstene
17beta-Hydroxy-4-androsten-3-one
17beta-Hydroxy-delta(sup4)-androsten-3-one
17beta-Hydroxyandrost-4-en-3-one
17beta-Hydroxyandrost-4-ene-3-one
17beta-hydroxy-4-androsten-3-one
4-Androsten-17?-ol-3-one
4-Androsten-17beta-ol-3-one
4-Androsten-3-one-17b-ol
4-androsten-17β-ol-3-one
4-androstene-17beta-ol-3-one
46923_FLUKA
46923_RIEDEL
58-22-0
7-beta-Hydroxyandrost-4-en-3-one
8-Iso-testosterone
9b,10a-Testosterone
9b-Testosterone
AA 2500
AC-14899
AC1L1LM0
Andriol
Andro
Andro 100
Andro L.A. 200
AndroGel
Androderm
Androderm (TN)
Androgel
Androgel (TN)
Android 10
Android 25
Android 5
Androlin
Andronaq
Andronate 100
Andronate 200
Andropatch
Andropository 200
Androsorb
Androst-4-en-17b-ol-3-one
Androst-4-en-17beta-ol-3-one
Androst-4-ene-17b-ol-3-one
Andrusol
Andryl 200
Aveed
Axiron
B5DEE83F-632B-48A1-A0ED-A51E7F13DF2E
BIDD:ER0555
BIM-0061761.0001
Beta Testosterone
Bio-0678
Bio-T-Gel
C00535
CCRIS 574
CDB 111C
CHEBI:17347
CHEMBL386630
CID6013
CMC_13449
COL 1621
CP 601B
CPD000058344
Cristerona T
Cristerone T
D00075
D4-Androsten-17b-ol-3-one
DB00624
Dea No. 4000
Delatest
Delatestryl
Depo-Testadiol
Depo-Testosterone
Depo-Testosterone Cypionate
Depo-testosterone
Depotest
EINECS 200-370-5
Epitestosteron
Everone 200
Fortesta
Geno-Cristaux Gremy
Geno-cristaux Gremy
Geno-cristaux gremy
HMS2052N11
HSDB 3398
Halotensin
Homosteron
Homosterone
Intrinsa
 
LMST02020002
LS-148813
LibiGel
Libigel
Lumitestosteron
MLS000563091
MLS001032098
MLS001306401
MLS002174283
Malerone
Malestrone
Malestrone (amps)
Malogen in Oil
Malogen, Aquaspension Injection
Malogen, aquaspension injection
Mertestate
Metandren
Methyltestosterone
MolPort-002-506-901
NCGC00091018-01
NSC 9700
Natesto nasal gel
Neo-Hombreol F
Neo-Testis
Neo-testis
Neotestis
Oreton
Oreton F
Oreton Methyl
Oreton-F
Orquisteron
Perandren
Percutacrine Androgenique
Percutacrine androgenique
Primotest
Primoteston
Rac-17b-hydroxy-(13a)androst-4-en-3-one
Rac-17b-hydroxy-(8a)-androst-4-en-3-one
Rac-17b-hydroxy-(9b,10a)androst-4-en-3-one
Rac-17b-hydroxy-androst-4-en-3-one
Relibra
Retrotestosterone
S00309
S2033_Selleck
SAM001246921
SMR000058344
SMR001261453
Scheinpharm Testone-Cyp
Striant
Striant (TN)
Sustanon
Sustanone
Sustason 250
Synandrol F
T-Cypionate
T1500_SIGMA
T5411_FLUKA
T5411_SIGMA
TES
Teslen
Testamone 100
Testandrone
Testaqua
Testiculosterone
Testim
Testim (TN)
Testobase
Testoderm
Testoderm Tts
Testogel
Testoject-50
Testolent
Testolin
Testopel
Testopel Pellets
Testopropon
Testosteroid
Testosteron
Testosterona
Testosterona [INN-Spanish]
Testosterone
Testosterone (JAN/USP)
Testosterone Cypionate
Testosterone Enanthate
Testosterone Gel
Testosterone Heptanoate
Testosterone Hydrate
Testosterone Propionate
Testosterone Undecanoate
Testosterone [Androgenic steroids, anabolic]
Testosterone [INN:BAN]
Testosterone and its esters
Testosterone hydrate
Testosterone solution
Testosteronum
Testosteronum [INN-Latin]
Testostosterone
Testostérone
Testoviron
Testoviron Schering
Testoviron T
Testoxyl
Testred
Testred Cypionate 200
Testrin-P.A
Testro AQ
Testro Aq
Testrone
Testryl
Tostrelle
Tostrex
Trans-Testosterone
UNII-3XMK78S47O
Viatrel
Virilon
Virilon IM
Virormone
Virosterone
Vogelxo
ZINC06500184
beta testosterone
delta(sup 4)-Androsten-17(beta)-ol-3-one
delta4-Androsten-17beta-ol-3-one
delta4-androsten-17b-ol-3-one
testosterone
trans-Testosterone
17
Methyltestosteroneapproved47458-18-46010
Synonyms:
17(alpha)-Methyl-delta(4)-androsten-17(beta)-ol-3-one
17-Methyltestosterone
17-beta-Hydroxy-17-methylandrost-4-en-3-one
17-methyltestosterone
17alpha-Methyl-3-oxo-4-androsten-17beta-ol
17alpha-Methyl-delta(4)-androsten-17beta-ol-3-one
17alpha-Methyltestosterone
17alpha-methyl-delta-androsten-17beta-ol-3-one
17alpha-methyltestosterone
17beta-Hydroxy-17-methylandrost-4-en-3-one
 
17α-methyl-Δ4-androsten-17β-ol-3-one
17α-methyltestosterone
4-Androstene-17alpha-methyl-17beta-ol-3-one
Android
Methitest
Methyltestosterone
Methyltestosteronum
Metiltestosterona
NSC-9701
Testred
Testred C-III
Virilon
18Testosterone 17 beta-cypionate474
19Testosterone undecanoate474
20
Testosterone enanthate474315-37-79416
Synonyms:
17-((1-Oxoheptyl)oxy)androst-4-en-3-one
17-Hydroxyandrost-4-en-3-one, 17-heptanoate
17-Hydroxyandrost-4-en-3-one, 17-heptanoic acid
17beta-Enanthoxyandrost-4-en-3-one
17beta-Hydroxyandrost-4-en-3-one enanthate
4-Androsten-17beta-ol-3-one 17-enanthate
4-Androsten-3-one 17beta-enanthate
Androgyn L.A.
Andropository
Androtardyl
Atlatest
DEA No. 4000
DePatestrye
Delatest
Delatestryl
Depo-Testro Med
Ditate
Durathate
Everone
 
Exten test
Malogen L.A.
Malogen L.A.200
Orquisteron-E
Primotestone
Reposo TMD
Testanthate
Testate
Testenate
Testinon
Testoenant
Testonenant
Testosterone 17-enanthate
Testosterone 17beta-heptanoate
Testosterone 17beta-heptanoic acid
Testosterone enantate
Testosterone heptoate
Testosterone heptoic acid
Testosterone heptylate
Testosterone oenanthate
Testostroval
21Estrogens2144
22Anabolic Agents375
23Antineoplastic Agents, Hormonal4256
24insulin4278
25Insulin, Globin Zinc4278

Interventional clinical trials:

idNameStatusNCT IDPhase
1Temsirolimus to Reverse Androgen Insensitivity for Castration-resistant Prostate CancerTerminatedNCT01020305Phase 1, Phase 2
2Metabolic Effects of Androgenicity in Aging Men and WomenActive, not recruitingNCT00680797

Search NIH Clinical Center for Androgen Insensitivity


Cochrane evidence based reviews: androgen-insensitivity syndrome

Genetic Tests for Androgen Insensitivity

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Genetic tests related to Androgen Insensitivity:

id Genetic test Affiliating Genes
1 Androgen Insensitivity Syndrome22 AR

Anatomical Context for Androgen Insensitivity

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MalaCards organs/tissues related to Androgen Insensitivity:

33
Breast, Testes, Uterus, Prostate, Thyroid, Lung, Brain

Animal Models for Androgen Insensitivity or affiliated genes

About this section

MGI Mouse Phenotypes related to Androgen Insensitivity:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053897.9AR, CGA, CYP19A1, INHA, NR5A1, SRD5A2
2MP:00053797.8AR, CGA, CYP19A1, INHA, NR5A1, SRD5A2

Publications for Androgen Insensitivity

About this section

Articles related to Androgen Insensitivity:

(show top 50)    (show all 500)
idTitleAuthorsYear
1
Prevalence of BRCA1 and BRCA2 germline mutations in patients with triple-negative breast cancer. (25682074)
2015
2
Repurposing FDA-approved drugs as therapeutics to treat Rift Valley fever virus infection. (26217313)
2015
3
Efficacy of different protocols of radioiodine therapy for treatment of toxic nodular goiter: systematic review and meta-analysis of the literature. (24803943)
2014
4
Expression of stem cell marker CD44 in prostate cancer biopsies predicts cancer grade in radical prostatectomy specimens. (25693083)
2014
5
Fracture healing of an osteodysplastic femur in a microcephalic osteodysplastic primordial dwarfism II (MOPD II) patient: a case report. (22773355)
2013
6
Comprehensive survival analysis of a cohort of patients with Stevens-Johnson syndrome and toxic epidermal necrolysis. (23389396)
2013
7
PTH1 receptor is involved in mediating cellular response to long-chain polyunsaturated fatty acids. (23300710)
2012
8
Loss-of-function mutations in filaggrin gene associate with psoriasis vulgaris in Chinese population. (22407025)
2012
9
Performance of total testosterone measurement to predict free testosterone for the biochemical evaluation of male hypogonadism. (22341266)
2012
10
Change in expression of miR-let7c, miR-100, and miR-218 from high grade localized prostate cancer to metastasis. (19372056)
2011
11
Congenital pupillary-iris-lens membrane with goniodysgenesis: histopathologic findings in an enucleated eye. (20507003)
2010
12
Warthin tumor presenting as a fungal abscess in an immunocompetent host: case report and review of the literature. (19340859)
2010
13
Cleavage of protease-activated receptors on an immortalized oral epithelial cell line by Porphyromonas gingivalis gingipains. (19608609)
2009
14
Treatment of postmenopausal frontal fibrosing alopecia with oral dutasteride. (19539860)
2009
15
Analysis of mRNA expression for steroidogenic enzymes in the remaining adrenal cortices attached to adrenocortical adenomas. (18505908)
2008
16
Plagiocephaly, brachycephaly and cranial orthotic devices: misshapen heads and helmets. (18719162)
2008
17
Expression and significance of GLUT-1 and DNA-PKcs in serous ovarian tumors]. (17991316)
2007
18
Beta2-adrenergic receptor genetic polymorphisms and short-term bronchodilator responses in patients with COPD. (17890463)
2007
19
Cutting edge: A common polymorphism impairs cell surface trafficking and functional responses of TLR1 but protects against leprosy. (17548585)
2007
20
The interaction of IL1A and endothelial nitric oxide synthase polymorphisms is associated with the degree of atopy. (16815170)
2006
21
DNA damage repair and genetic polymorphisms: assessment of individual sensitivity and repair capacity. (16965996)
2006
22
Interferon-inducible Mx gene expression in cotton rats: cloning, characterization, and expression during influenza viral infection. (17238834)
2006
23
Endoscopic assisted microneurosurgery for gasserian portion of trigeminal neuroma: two cases. (17119812)
2006
24
Short-term interleukin-1(beta) increases the release of secreted APP(alpha) via MEK1/2-dependent and JNK-dependent alpha-secretase cleavage in neuroglioma U251 cells. (15880353)
2005
25
Greater trochanter bursitis pain syndrome in females with chronic low back pain and sciatica. (15587030)
2004
26
Management of nonpalpable ultrasound-indeterminate breast lesions. (14605628)
2003
27
Comparison of two single-day regimens of triclabendazole for the treatment of human pulmonary paragonimiasis. (15259481)
2003
28
IDDM2/insulin VNTR modifies risk conferred by IDDM1/HLA for development of Type 1 diabetes and associated autoimmunity. (12750767)
2003
29
The management of severe infectious mononucleosis tonsillitis and upper airway obstruction. (11779326)
2001
30
Non-toxic ubiquitous over-expression of utrophin in the mdx mouse. (11595513)
2001
31
The temperature sensitive mutant p53-143ala extends in vitro life span, promotes errors in DNA replication and impairs DNA repair in normal human oral keratinocytes. (11838964)
2001
32
Chloroquine/doxycycline combination versus chloroquine alone, and doxycycline alone for the treatment of Plasmodium falciparum and Plasmodium vivax malaria in northeastern Irian Jaya, Indonesia. (11463107)
2001
33
Novel mutations of the autoimmune regulator gene in two siblings with autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy. (10946904)
2000
34
Functional consequences of mutations in the human alpha1A calcium channel subunit linked to familial hemiplegic migraine. (10024348)
1999
35
On the mode of inhibition of eukaryotic protein synthesis by ADP-ribosylation of elongation factor 2. (10637774)
1999
36
Replication-dependent marking of DNA by PCNA facilitates CAF-1- coupled inheritance of chromatin. (10052459)
1999
37
p21(waf1) mRNA contains a conserved element in its 3'-untranslated region that is bound by the Elav-like mRNA-stabilizing proteins. (9685407)
1998
38
Persistent keratoacanthoma: challenges in management. (9865205)
1998
39
Lack of association between apolipoprotein E genotype and sporadic amyotrophic lateral sclerosis. (10737125)
1998
40
Altered expression of alpha 6 integrin subunit in oral squamous cell carcinoma and oral potentially malignant lesions. (9692055)
1998
41
Transjugular intrahepatic portosystemic shunting: decreased survival for patients with high APACHE II scores. (7717310)
1995
42
Two cases of acute alcoholic myopathy associated with rhabdomyolysis]. (8297665)
1993
43
Effect of monensin on the sulfation of heparan sulfate proteoglycan from endothelial cells. (1429869)
1992
44
Transcriptional repression mediated by the WT1 Wilms tumor gene product. (1654597)
1991
45
Uremic neuropathy. A case presentation. (1663549)
1991
46
Management of biliary ascariasis in children. (2258221)
1990
47
Histamine containing endocrine cells in the human stomach. (2186979)
1990
48
An early phase II study of CPT-11: a new derivative of camptothecin, for the treatment of leukemia and lymphoma. (2230878)
1990
49
Vascular liver nodules caused by an islet cell tumor. (179758)
1976
50

Variations for Androgen Insensitivity

About this section

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

67 (show all 110)
id Symbol AA change Variation ID SNP ID
1ARp.Ile665AsnVAR_004687
2ARp.Leu678ProVAR_004688
3ARp.Asp696HisVAR_004690
4ARp.Asp696AsnVAR_004691
5ARp.Asp696ValVAR_004692
6ARp.Ser704GlyVAR_004693
7ARp.Leu708ArgVAR_004694
8ARp.Asp733AsnVAR_004696
9ARp.Asp733TyrVAR_004697
10ARp.Gly744ValVAR_004699
11ARp.Met750ValVAR_004700
12ARp.Gly751AspVAR_004701
13ARp.Arg753GlnVAR_004702
14ARp.Phe755ValVAR_004703
15ARp.Leu763PheVAR_004704
16ARp.Ala766ThrVAR_004707
17ARp.Arg775HisVAR_004708
18ARp.Arg775CysVAR_004709
19ARp.Arg780TrpVAR_004710
20ARp.Met781IleVAR_004711
21ARp.Cys785TyrVAR_004712
22ARp.Met788ValVAR_004713
23ARp.Phe795SerVAR_004714
24ARp.Gln799GluVAR_004715
25ARp.Met808ArgVAR_004716
26ARp.Met808ValVAR_004717
27ARp.Ser815AsnVAR_004718
28ARp.Arg832LeuVAR_004719
29ARp.Arg832GlnVAR_004720
30ARp.Arg841CysVAR_004721
31ARp.Arg841HisVAR_004723
32ARp.Ile843ThrVAR_004724
33ARp.Arg856CysVAR_004725
34ARp.Arg856HisVAR_004726
35ARp.Asp865AsnVAR_004727
36ARp.Val867GluVAR_004728
37ARp.Val867MetVAR_004730
38ARp.Pro893LeuVAR_004733
39ARp.Met896ThrVAR_004734
40ARp.Leu908PheVAR_004735
41ARp.Gln196ArgVAR_009224
42ARp.Leu257ProVAR_009225
43ARp.Pro392ArgVAR_009226
44ARp.Pro392SerVAR_009227
45ARp.Gly216ArgVAR_009715
46ARp.Gly492SerVAR_009719
47ARp.Pro549SerVAR_009722
48ARp.Cys560TyrVAR_009723
49ARp.Tyr572CysVAR_009727
50ARp.Ala574AspVAR_009728
51ARp.Cys577PheVAR_009731
52ARp.Cys577ArgVAR_009732
53ARp.Cys580PheVAR_009733
54ARp.Cys580TyrVAR_009734
55ARp.Val582PheVAR_009736
56ARp.Arg586LysVAR_009740
57ARp.Ala597ThrVAR_009743
58ARp.Cys602PheVAR_009746
59ARp.Cys612TyrVAR_009749
60ARp.Arg616HisVAR_009751
61ARp.Arg616ProVAR_009752
62ARp.Leu617ProVAR_009753
63ARp.Arg618ProVAR_009755
64ARp.Glu682LysVAR_009764
65ARp.Val685IleVAR_009766
66ARp.Gly689GluVAR_009769
67ARp.Leu701MetVAR_009771
68ARp.Leu702PheVAR_009772
69ARp.Leu702HisVAR_009773
70ARp.Ser703AlaVAR_009774
71ARp.Ser704CysVAR_009775
72ARp.Asn706SerVAR_009776
73ARp.Gly709ValVAR_009778
74ARp.Arg711ThrVAR_009779
75ARp.Leu723PheVAR_009785
76ARp.Pro724SerVAR_009786
77ARp.Gly725AspVAR_009787
78ARp.Asn728LysVAR_009790
79ARp.Trp742ArgVAR_009794
80ARp.Leu745PheVAR_009796
81ARp.Trp752ArgVAR_009804
82ARp.Ser760PheVAR_009810
83ARp.Tyr764HisVAR_009812
84ARp.Phe765LeuVAR_009813
85ARp.Ala766ValVAR_009814
86ARp.Pro767SerVAR_009815
87ARp.Asp768GluVAR_009816
88ARp.Leu769ProVAR_009817
89ARp.Arg789SerVAR_009822
90ARp.Leu791PheVAR_009823
91ARp.Leu813PheVAR_009828
92ARp.Gly821AlaVAR_009829
93ARp.Tyr835CysVAR_009832
94ARp.Phe857LeuVAR_009836
95ARp.Leu864ArgVAR_009837
96ARp.Asp865GlyVAR_009838
97ARp.Ser866ProVAR_009839
98ARp.Arg872GlyVAR_009842
99ARp.Leu882ValVAR_009846
100ARp.Met887ValVAR_009847
101ARp.Val890MetVAR_009848
102ARp.Ile899ThrVAR_009852
103ARp.Pro905HisVAR_009855
104ARp.Pro905SerVAR_009856
105ARp.Phe917LeuVAR_009861
106ARp.His918ArgVAR_009862
107ARp.Asn706TyrVAR_013475
108ARp.Gly744GluVAR_013477
109ARp.His875ArgVAR_013479
110ARp.Asp880TyrVAR_013480

Clinvar genetic disease variations for Androgen Insensitivity:

5 (show all 31)
id Gene Variation Type Significance SNP ID Assembly Location
1ARNM_000044.3(AR)undetermined variantPathogenicGRCh37Chr X, 66765160: 66765162
2ARAR, PARTIAL DELdeletionPathogenic
3ARAR, PARTIAL DELdeletionPathogenic
4ARNM_000044.3(AR): c.2323C> T (p.Arg775Cys)single nucleotide variantPathogenicrs137852562GRCh37Chr X, 66941679: 66941679
5ARNM_000044.3(AR): c.2157G> A (p.Trp719Ter)single nucleotide variantPathogenicrs137852563GRCh37Chr X, 66931515: 66931515
6ARNM_000044.3(AR): c.2599G> A (p.Val867Met)single nucleotide variantPathogenicrs137852564GRCh37Chr X, 66942818: 66942818
7ARNM_000044.3(AR): c.2391G> A (p.Trp797Ter)single nucleotide variantPathogenicrs137852565GRCh37Chr X, 66941747: 66941747
8ARNM_000044.3(AR): c.1771A> T (p.Lys591Ter)single nucleotide variantPathogenicrs137852566GRCh37Chr X, 66905854: 66905854
9ARNM_000044.3(AR): c.2650A> T (p.Lys884Ter)single nucleotide variantPathogenicrs137852568GRCh37Chr X, 66943570: 66943570
10ARNM_000044.3(AR): c.2362A> G (p.Met788Val)single nucleotide variantPathogenicrs137852570GRCh37Chr X, 66941718: 66941718
11ARNM_000044.3(AR): c.180_181delGCdeletionPathogenicGRCh37Chr X, 66765168: 66765169
12ARNM_000044.3(AR): c.2571C> G (p.Phe857Leu)single nucleotide variantPathogenicrs137852598GRCh37Chr X, 66942790: 66942790
13ARNM_000044.3(AR): c.2324G> A (p.Arg775His)single nucleotide variantPathogenicrs137852572GRCh37Chr X, 66941680: 66941680
14ARNM_000044.3(AR): c.178C> T (p.Gln60Ter)single nucleotide variantPathogenicrs137852575GRCh37Chr X, 66765166: 66765166
15ARNM_000044.3: c.(2173+1_2174-1)_(2318+1_2319-1)deldeletionPathogenic
16ARNM_000044.3: c.(2318+1_2319-1)_(2607+1_2608-1)deldeletionPathogenic
17ARNM_000044.3(AR): c.2521C> T (p.Arg841Cys)single nucleotide variantPathogenicrs137852577GRCh37Chr X, 66942740: 66942740
18ARNM_000044.3(AR): c.2033T> C (p.Leu678Pro)single nucleotide variantPathogenicrs137852579GRCh37Chr X, 66931391: 66931391
19ARNM_000044.3(AR): c.2123T> G (p.Leu708Arg)single nucleotide variantPathogenicrs137852585GRCh37Chr X, 66931481: 66931481
20ARNM_000044.3(AR): c.1739G> T (p.Cys580Phe)single nucleotide variantPathogenicrs137852586GRCh37Chr X, 66863220: 66863220
21ARNM_000044.3(AR): c.1748T> A (p.Phe583Tyr)single nucleotide variantPathogenicrs137852587GRCh37Chr X, 66863229: 66863229
22ARNM_000044.3(AR): c.2343G> T (p.Met781Ile)single nucleotide variantPathogenicrs137852589GRCh37Chr X, 66941699: 66941699
23ARNM_000044.3: c.179dupAduplicationPathogenic
24ARNM_000044.3(AR): c.2667C> T (p.Ser889=)single nucleotide variantPathogenicrs137852594GRCh37Chr X, 66943587: 66943587
25ARNM_000044.3(AR): c.2137C> T (p.Leu713Phe)single nucleotide variantPathogenicrs137852595GRCh37Chr X, 66931495: 66931495
26ARNM_000044.3(AR): c.1732G> A (p.Gly578Arg)single nucleotide variantPathogenicrs137852596GRCh37Chr X, 66863213: 66863213
27ARNM_000044.3(AR): c.2596T> C (p.Ser866Pro)single nucleotide variantPathogenicrs137852597GRCh37Chr X, 66942815: 66942815
28ARNM_000044.3(AR): c.2069A> C (p.His690Pro)single nucleotide variantPathogenicrs137852599GRCh37Chr X, 66931427: 66931427
29ARNM_000044.3(AR): c.2231G> T (p.Gly744Val)single nucleotide variantPathogenicrs137852600GRCh37Chr X, 66937377: 66937377
30ARNM_000044.3(AR): c.2231G> A (p.Gly744Glu)single nucleotide variantPathogenicrs137852600GRCh37Chr X, 66937377: 66937377
31ARNM_000044.3: c.2281_2287delinsTTCGCCCCTGAindelPathogenic

Expression for genes affiliated with Androgen Insensitivity

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Search GEO for disease gene expression data for Androgen Insensitivity.

Pathways for genes affiliated with Androgen Insensitivity

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GO Terms for genes affiliated with Androgen Insensitivity

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

idNameGO IDScoreTop Affiliating Genes
1intracellular receptor signaling pathwayGO:00305229.9AR, NR5A1
2steroid biosynthetic processGO:00066949.4CYP19A1, SRD5A2
3cell-cell signalingGO:00072678.5AR, CGA, INHA, NR5A1, SRD5A2

Sources for Androgen Insensitivity

About this section
2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet