MCID: AND015
MIFTS: 64

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 50 12
Androgen Insensitivity Syndrome 11 69 22 46 23 24 13 68 48
Androgen Receptor Deficiency 46 23 24 68 66
Androgen Resistance Syndrome 11 23 24 68 25
Testicular Feminization 11 22 23 24 66
Testicular Feminization Syndrome 11 46 68 25
Ais 46 23 24 68
Dihydrotestosterone Receptor Deficiency 46 24 68
Androgen-Insensitivity Syndrome 11 37 66
Dhtr Deficiency 46 24 68
Reifenstein Syndrome 23 66
 
Ar Deficiency 24 68
Complete Androgen Insensitivity Syndrome 68
Goldberg - Maxwell Syndrome 11
Androgen Insensitivity Nos 66
Goldberg-Maxwell Syndrome 11
Feminisation - Testicular 11
Androgen Receptor 12
Cais 68
Tfm 68
Ar 41

Characteristics:

HPO:

62
androgen insensitivity:
Inheritance: x-linked recessive inheritance


Classifications:



Summaries for Androgen Insensitivity

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NIH Rare Diseases:46 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 hypogonadism and klinefelter's syndrome, 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 Nongenotropic Androgen signaling and Ovarian Infertility Genes. Affiliated tissues include testes, breast and uterus, and related mouse phenotypes are endocrine/exocrine gland and reproductive system.

Disease Ontology:11 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:68 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:24 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:50 The androgen insensitivity syndrome is an X-linked recessive disorder in which affected males have female external... (300068) more...

Wikipedia:69 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 188)
idRelated DiseaseScoreTop Affiliating Genes
1hypogonadism29.9AR, CYP19A1, SHBG
2klinefelter's syndrome29.7CYP19A1, NR5A1
3prostate cancer29.4AR, CYP19A1, LYVE1, SHBG, SRD5A2
4hypospadias 1, x-linked25.0APOD, AR, CGA, CYP19A1, LYVE1, MAMLD1
5complete androgen insensitivity syndrome12.6
6androgen insensitivity, partial, with or without breast cancer12.5
7androgen insensitivity syndrome, mild12.3
8familial mediterranean fever, ar12.2
9epidermolysis bullosa dystrophica, ar12.1
10hypophosphatemic rickets, ar12.1
11immunodeficiency 27a, mycobacteriosis, ar12.0
12amelogenesis imperfecta11.5
13aland island eye disease11.4
14autoimmune inner ear disease11.4
15adolescent idiopathic scoliosis11.2
16pediatric arterial ischemic stroke11.0
17amish infantile epilepsy syndrome10.9
18prostatitis10.5
19retroperitoneum carcinoma10.4AR, CYP19A1
20hereditary amyloidosis10.4
21mongolian spot10.4AR, SRD5A2
22botulism10.3AR, SHBG
23mite infestation10.3CYP19A1, SRY
24cerebritis10.3
25amyloidosis10.3
26inguinal hernia10.3
27neuronitis10.2
28nephrogenic adenofibroma10.2CYP19A1, SRY
29gastrojejunal ulcer10.2AR, CYP19A1, SRD5A2
30riedel's fibrosing thyroiditis10.2CYP19A1, SHBG
31vaginal discharge10.2AR, CYP19A1, SRD5A2
32alzheimer disease10.2
33leydig cell tumor10.2
34atherosclerosis10.2
35subacute myeloid leukemia10.2CGA, SHBG
36sick sinus syndrome10.2CYP19A1, SHBG
37sertoli-leydig cell tumor10.1
38pseudohermaphroditism10.1
39seminoma10.1
40artery disease10.1
41adult brainstem gliosarcoma10.1AR, SRY
42prolapse of lacrimal gland10.1AR, CYP19A1, SRY
43cerebral amyloid angiopathy10.1
44drug-induced vasculitis10.1NR5A1, SRY
45hypospadias10.1
46sertoli cell tumor10.1
47spinal and bulbar muscular atrophy of kennedy10.1
48hypospadias 2, x-linked10.1
49coronary artery disease10.1
50dementia10.1

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 inguinal hernia HP:0000023
9 gynecomastia HP:0000771
10 primary amenorrhea HP:0000786
11 growth abnormality HP:0001507
12 sparse axillary hair HP:0002215
13 sparse pubic hair HP:0002225
14 absent facial hair HP:0002550
15 neoplasm HP:0002664
16 elevated follicle stimulating hormone HP:0008232
17 female external genitalia in individual with 46,xy karyotype HP:0008730
18 elevated luteinizing hormone HP:0011969

Drugs & Therapeutics for Androgen Insensitivity

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

(show all 9)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
BicalutamidePhase 1, Phase 216690357-06-556069, 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 (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-,(+-)
2
sirolimusPhase 1, Phase 2186353123-88-95284616, 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
3
MiconazolePhase 1, Phase 2357322916-47-84189
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
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
Micantin (nitrate)
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
Prestwick0_000067
Prestwick1_000067
Prestwick2_000067
Prestwick3_000067
Prestwick_335
R 18134
R-14,889
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
EverolimusPhase 1, Phase 21863159351-69-66442177
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
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
Zortress
everolimus
5Testosterone undecanoate524
6
Testosterone enanthate524315-37-79416
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
7insulin4401
8
Methyltestosterone52458-18-46010
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
Methyltestosterone
Methyltestosteronum
Metiltestosterona
NSC-9701
Testred
Virilon
9
Testosterone52458-22-06013
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
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
Depotest
EINECS 200-370-5
Epitestosteron
Everone 200
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
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 Pellets
Testopropon
Testosteroid
Testosteron
Testosterona
Testosterona [INN-Spanish]
Testosterone
Testosterone (JAN/USP)
Testosterone Cypionate
Testosterone Enanthate
Testosterone Hydrate
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
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

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 Resistance Syndrome25
2 Testicular Feminization25
3 Androgen Insensitivity Syndrome23 AR

Anatomical Context for Androgen Insensitivity

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MalaCards organs/tissues related to Androgen Insensitivity:

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

Animal Models for Androgen Insensitivity or affiliated genes

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MGI Mouse Phenotypes related to Androgen Insensitivity:

39
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053797.6AR, CGA, CYP19A1, NCOA1, NR5A1, SRD5A2
2MP:00053897.5AR, CGA, CYP19A1, NCOA1, NR5A1, SRD5A2

Publications for Androgen Insensitivity

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Articles related to Androgen Insensitivity:

(show top 50)    (show all 518)
idTitleAuthorsYear
1
Androgen Insensitivity Syndrome: Management Considerations from Infancy to Adulthood. (26182482)
2015
2
A Novel Mutation (c.2735_2736delTC) in the Androgen Receptor Gene in 46,XY Females with Complete Androgen Insensitivity Syndrome in an Egyptian Family. (25034089)
2014
3
Complete androgen insensitivity syndrome in juveniles and adults with female phenotypes. (25170741)
2014
4
Bilateral laparoscopic gonadectomy in a patient with complete androgen insensitivity syndrome and bilateral sertoli-leydig cell tumor: a case report and brief review of the literature. (25032133)
2014
5
Objective use of testosterone reveals androgen insensitivity in patients with proximal hypospadias. (23962431)
2013
6
Timing of gonadectomy in adult women with complete androgen insensitivity syndrome (CAIS): patient preferences and clinical evidence. (22211628)
2012
7
A novel nonsense mutation in the N-terminal domain of the androgen receptor gene causes complete androgen insensitivity syndrome. (22943730)
2012
8
A large deletion/insertion-induced frameshift mutation of the androgen receptor gene in a family with a familial complete androgen insensitivity syndrome. (22487869)
2012
9
Androgen insensitivity syndrome (or Morris syndrome) and other associated pathologies. (21284344)
2010
10
Identification of a critical novel mutation in the exon 1 of androgen receptor gene in 2 brothers with complete androgen insensitivity syndrome. (19023143)
2009
11
In-vitro characterization of androgen receptor mutations associated with complete androgen insensitivity syndrome reveals distinct functional deficits. (18577874)
2008
12
Androgen insensitivity syndrome: clinical features and molecular defects. (18694860)
2008
13
Complete androgen insensitivity without Wolffian duct development: the AR-A form of the androgen receptor is not sufficient for male genital development. (17408421)
2007
14
Ethical and legal implications of genetic testing in androgen insensitivity syndrome. (17382127)
2007
15
Testicular development in the complete androgen insensitivity syndrome. (16400621)
2006
16
Partial androgen insensitivity syndrome with thermolability in the androgen receptor. (16448442)
2006
17
Gene symbol: AR. Disease: androgen insensitivity syndrome. (17128486)
2006
18
Probing the functional link between androgen receptor coactivator and ligand-binding sites in prostate cancer and androgen insensitivity. (16365032)
2006
19
Puberty in subjects with complete androgen insensitivity syndrome. (16491011)
2006
20
Partial androgen insensitivity syndrome with R840H mutation in androgen receptor: report of one case. (16302589)
2005
21
Partial androgen insensitivity syndrome. (23256957)
2005
22
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
23
An examination of how different mutations at arginine 855 of the androgen receptor result in different androgen insensitivity phenotypes. (15118070)
2004
24
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
25
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
26
Laparoscopy-assisted transinguinal extracorporeal gonadectomy in six patients with androgen insensitivity syndrome. (12909509)
2003
27
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
28
Synthetic inhibitors of CDKs induce different responses in androgen sensitive and androgen insensitive prostatic cancer cell lines. (12147712)
2002
29
Phenotypic variation in a family with partial androgen insensitivity syndrome explained by differences in 5alpha dihydrotestosterone availability. (11238515)
2001
30
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
31
Novel amino acid substitutional mutation, tyrosine-739-aspartic acid, in the androgen receptor gene in complete androgen insensitivity syndrome. (11380707)
2001
32
Phenotypic features, androgen receptor binding, and mutational analysis in 278 clinical cases reported as androgen insensitivity syndrome. (10690872)
2000
33
Bilateral testicular tumors in androgen insensitivity syndrome. (11144509)
2000
34
A frame shift mutation in the DNA-binding domain of the androgen receptor gene associated with complete androgen insensitivity, persistent mA1llerian structures, and germ cell tumors in dysgenetic gonads. (10428170)
1999
35
Trafficking of androgen receptor mutants fused to green fluorescent protein: a new investigation of partial androgen insensitivity syndrome. (9768671)
1998
36
Medical ethics and truth telling in the case of androgen insensitivity syndrome. (8630847)
1996
37
Corpus albicans-like structures in the gonads in androgen insensitivity syndrome. (8786209)
1996
38
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
39
Human androgen insensitivity syndrome. (8537246)
1995
40
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
41
Testicular vein and peripheral vein testosterone, follicle stimulating hormone, luteinizing hormone, and prolactin concentrations in a patient with androgen insensitivity syndrome. (8230183)
1993
42
Molecular genetics of human androgen insensitivity. (8339746)
1993
43
Single base mutations in the human androgen receptor gene causing complete androgen insensitivity: rapid detection by a modified denaturing gradient gel electrophoresis technique. (1480178)
1992
44
Molecular analysis of the androgen receptor gene in 52 patients with complete or partial androgen insensitivity syndrome: a collaborative study. (1356901)
1992
45
Expression and function of normal and LNCaP androgen receptors in androgen-insensitive human prostatic cancer cells. Altered hormone and antihormone specificity in gene transactivation. (1668832)
1991
46
Amber mutation creates a diagnostic MaeI site in the androgen receptor gene of a family with complete androgen insensitivity. (1720929)
1991
47
Improvement of spermatogenesis after treatment with the antiestrogen tamoxifen in a man with the incomplete androgen insensitivity syndrome. (2566621)
1989
48
Evidence for secondary 5 alpha-reductase deficiency in genital and supra-pubic skin of subjects with androgen insensitivity syndrome. (3164158)
1988
49
Micropenis. III. Primary hypogonadism, partial androgen insensitivity syndrome, and idiopathic disorders. (7441936)
1980
50
The nosology of male pseudohermaphroditism due to androgen insensitivity. (365270)
1978

Variations for Androgen Insensitivity

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

68 (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_181delGC (p.Gln61Alafs)deletionPathogenicrs869320731GRCh37Chr 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(AR): c.(2173+1_2174-1)_(2318+1_2319-1)deldeletionPathogenic
16ARNM_000044.3(AR): 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(AR): c.179dupA (p.Gln61Alafs)duplicationPathogenicrs759327087GRCh37Chr X, 66765167: 66765167
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(AR): c.2281_2287delAGGATGCinsTTCGCCCCTGA (p.Arg761Phefs)indelPathogenicrs869320732GRCh38Chr X, 67717585: 67717591

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:

(show all 11)
idNameGO IDScoreTop Affiliating Genes
1prostate gland growthGO:006073610.1AR, CYP19A1
2steroid biosynthetic processGO:00066949.9CYP19A1, SRD5A2
3androgen metabolic processGO:00082099.9CYP19A1, SRD5A2
4hypothalamus developmentGO:00218549.7NCOA1, SRD5A2
5positive regulation of male gonad developmentGO:20000209.5NR5A1, SRY
6androgen receptor signaling pathwayGO:00305219.5AR, NCOA1
7cellular response to hormone stimulusGO:00328709.4CGA, NCOA1
8intracellular receptor signaling pathwayGO:00305229.3AR, NCOA1, NR5A1
9cell-cell signalingGO:00072678.9AR, CGA, NR5A1, SRD5A2
10positive regulation of transcription, DNA-templatedGO:00458938.6AR, NCOA1, NR5A1, SRY
11male gonad developmentGO:00085847.9AR, MAMLD1, NCOA1, NR5A1, SRD5A2, SRY

Molecular functions related to Androgen Insensitivity according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1androgen bindingGO:000549710.0AR, SHBG
2steroid bindingGO:00054969.9AR, SHBG
3RNA polymerase II transcription factor activity, ligand-activated sequence-specific DNA bindingGO:00048799.7AR, NR5A1

Sources for Androgen Insensitivity

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet