MCID: AND015
MIFTS: 65

Androgen Insensitivity malady

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

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


Classifications:



External Ids:

OMIM49 300068
Disease Ontology10 DOID:4674
ICD9CM29 259.5, 259.51
ICD1027 E34.5
MedGen34 C0039585

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 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 based summary: Androgen Insensitivity, also known as androgen insensitivity syndrome, is related to azoospermia and germ cell cancer, 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 testes, breast and uterus, and related mouse phenotypes are endocrine/exocrine gland and reproductive system.

Disease Ontology:10 A testicular disease and hermaphroditism that is characterized by the partial or complete inability of the cell to respond to androgens in individuals with a karyotype of 46,xy resulting in female physical traits but male genetic makeup.

Genetics Home Reference: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...

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.

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

GeneReviews summary for androgen

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 6053)
idRelated DiseaseScoreTop Affiliating Genes
1azoospermia30.8AR, SHBG
2germ cell cancer30.4ALPP, INHA
3prostate cancer30.3ALPP, AR, INHA, LYVE1, SHBG, SRD5A2
4brain glioma30.1ALPP, SRY
5respiratory failure30.0AR, SHBG, SRY
6herpes simplex30.0AR, CGA, SHBG, SRD5A2, SRY
7alopecia, androgenetic, 130.0AR, SHBG, SRD5A2
8sexual disorder30.0AR, SHBG, SRY
9hyperuricemia29.9AR, SHBG
10hypertrichosis29.8ALPP, CGA, SHBG
11cystic kidney29.8AR, INHA, SRY
12ovarian mixed germ cell neoplasm29.8ALPP, CGA
13trypanosomiasis29.8CGA, INHA
14anorectal atresia29.8CGA, SRY
15testicular disease29.8ALPP, CGA, SHBG
16pseudohypoparathyroidism29.8AR, SRD5A2
17dysostosis29.5ALPP, INHA
18gestational choriocarcinoma29.5ALPP, AR, CGA
19craniofrontonasal dysplasia29.3AR, LYVE1, SHBG
20nasal cavity inverting papilloma29.3ALPP, SRY
21choriocarcinoma of ovary29.3ALPP, CGA, INHA
22male urethral cancer29.2AR, SHBG, SRY
23prostatic urethral cancer29.2ALPP, AR, SHBG
24senile cataract29.0ALPP, CGA, INHA
25diphyllobothriasis29.0AR, CGA, INHA, SHBG, SRY
26white piedra29.0SHBG, SRY
27leprechaunism28.9ALPP, AR, CGA, SHBG
28spinal and bulbar muscular atrophy of kennedy28.1ALPP, APOD, AR, CGA, INHA, LYVE1
29complete androgen insensitivity syndrome11.2
30breast cancer11.1
31prostatitis10.8
32androgen insensitivity, partial, with or without breast cancer10.8
33muscular atrophy10.8
34male infertility10.7
35myeloid leukemia10.6
36neuronitis10.6
37ovarian cancer10.6
38asthma10.6
39inguinal hernia10.6
40alopecia10.6
41estrogen-receptor negative breast cancer10.6
42amyloidosis10.6
43myeloma10.5
44cerebritis10.5
45cryptorchidism10.5
46endotheliitis10.5
47androgen insensitivity syndrome, mild10.5
48lymphoblastic leukemia10.5
49multiple myeloma10.5
50chronic lymphocytic leukemia10.5

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 19)
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 x-linked recessive inheritance HP:0001419
12 growth abnormality HP:0001507
13 sparse axillary hair HP:0002215
14 sparse pubic hair HP:0002225
15 absent facial hair HP:0002550
16 neoplasm HP:0002664
17 elevated follicle stimulating hormone HP:0008232
18 female external genitalia in individual with 46,xy karyotype HP:0008730
19 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 11)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
BicalutamideapprovedPhase 1, Phase 215890357-06-556069, 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-,(+-)
2
Miconazoleapproved, investigationalPhase 1, Phase 2291222916-47-84189
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
3
Sirolimusapproved, investigationalPhase 1, Phase 2174253123-88-95284616, 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
4
EverolimusapprovedPhase 1, Phase 21742159351-69-66442177
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
5
Testosteroneapproved, investigational45358-22-06013
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
Andro 100
AndroGel
Androderm
Androderm (TN)
Androgel
Androgel (TN)
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
Bio-0678
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
Delatestryl
Depo-Testadiol
Depo-testosterone
Depotest
EINECS 200-370-5
Epitestosteron
Everone 200
Fortesta
Geno-cristaux Gremy
Geno-cristaux gremy
HMS2052N11
HSDB 3398
Halotensin
Homosteron
Homosterone
 
Intrinsa
LMST02020002
LS-148813
LibiGel
Lumitestosteron
MLS000563091
MLS001032098
MLS001306401
MLS002174283
Malerone
Malestrone (amps)
Malogen in Oil
Malogen, aquaspension injection
Mertestate
MolPort-002-506-901
NCGC00091018-01
NSC 9700
Natesto nasal gel
Neo-Hombreol F
Neo-testis
Neotestis
Oreton
Oreton F
Oreton-F
Orquisteron
Perandren
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
Teslen
Testamone 100
Testandrone
Testaqua
Testiculosterone
Testim
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Testobase
Testoderm
Testoderm Tts
Testogel
Testoject-50
Testolent
Testolin
Testopel
Testopel Pellets
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Testosteroid
Testosteron
Testosterona
Testosterona [INN-Spanish]
Testosterone
Testosterone (JAN/USP)
Testosterone Enanthate
Testosterone Gel
Testosterone Heptanoate
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 Cypionate 200
Testrin-P.A
Testro AQ
Testrone
Testryl
Tostrelle
Tostrex
UNII-3XMK78S47O
Viatrel
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
trans-Testosterone
6
Methyltestosteroneapproved45358-18-46010
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
7
Testosterone enanthate453315-37-79416
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
8Testosterone undecanoate453
9Insulin, Globin Zinc4069
10insulin4069
11Testosterone 17 beta-cypionate457

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
2 Androgen Resistance Syndrome24
3 Testicular Feminization24
4 Reifenstein Syndrome24

Anatomical Context for Androgen Insensitivity

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MalaCards organs/tissues related to Androgen Insensitivity:

33
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:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053798.5AR, CGA, INHA, SRD5A2, SRY
2MP:00053897.1ALPP, AR, CGA, INHA, MAMLD1, SRD5A2

Publications for Androgen Insensitivity

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Articles related to Androgen Insensitivity:

(show top 50)    (show all 494)
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
ERBB2 increases metastatic potentials specifically in androgen-insensitive prostate cancer cells. (24937171)
2014
4
A novel arg616Cys mutation in the DNA-binding domain of complete androgen insensitivity syndrome in a Chinese family. (24229697)
2013
5
Objective use of testosterone reveals androgen insensitivity in patients with proximal hypospadias. (23962431)
2013
6
The in vivo role of androgen receptor SUMOylation as revealed by androgen insensitivity syndrome and prostate cancer mutations targeting the proline/glycine residues of synergy control motifs. (22829593)
2012
7
Male patients with partial androgen insensitivity syndrome: a longitudinal follow-up of growth, reproductive hormones and the development of gynaecomastia. (22412043)
2012
8
Prenatal diagnosis of partial androgen insensitivity syndrome by means of a 4-D ultrasound technique. (22260757)
2012
9
Androgen insensitivity syndrome. (23044881)
2012
10
Community screening leading to the diagnosis of androgen insensitivity syndrome at the age of 65. (24371658)
2012
11
A novel Arg615Ser mutation of androgen receptor DNA-binding domain in three 46,XY sisters with complete androgen insensitivity syndrome and bilateral inguinal hernia. (20888558)
2011
12
A large advanced seminoma in an older woman with androgen insensitivity syndrome. (22384429)
2011
13
Complete androgen insensitivity syndrome: an anatomic evaluation and sexual function questionnaire pilot study. (20719566)
2011
14
Familial complete androgen insensitivity syndrome with prostatic tissue and seminal vesicles. (20602105)
2010
15
S578N mutation of the androgen receptor in an adolescent with complete androgen insensitivity syndrome. (20819612)
2010
16
Apparent male gender identity in a patient with complete androgen insensitivity syndrome. (19636694)
2009
17
Prenatal diagnosis of androgen insensitivity syndrome. (19844078)
2009
18
Identification of a critical novel mutation in the exon 1 of androgen receptor gene in 2 brothers with complete androgen insensitivity syndrome. (19023143)
2009
19
Piceatannol, a natural stilbene from grapes, induces G1 cell cycle arrest in androgen-insensitive DU145 human prostate cancer cells via the inhibition of CDK activity. (19487074)
2009
20
Novel missense mutation in the P-box of androgen receptor in a patient with androgen insensitivity syndrome. (18270433)
2008
21
Complete androgen insensitivity without Wolffian duct development: the AR-A form of the androgen receptor is not sufficient for male genital development. (17408421)
2007
22
Heterozygous mutation of steroidogenic factor-1 in 46,XY subjects may mimic partial androgen insensitivity syndrome. (17488792)
2007
23
Testicular development in the complete androgen insensitivity syndrome. (16400621)
2006
24
Partial androgen insensitivity syndrome with thermolability in the androgen receptor. (16448442)
2006
25
Gene symbol: AR. Disease: androgen insensitivity syndrome. (17128486)
2006
26
Complete androgen insensitivity syndrome: report of a case with solitary pelvic kidney. (16604972)
2006
27
Partial androgen insensitivity syndrome with R840H mutation in androgen receptor: report of one case. (16302589)
2005
28
Partial androgen insensitivity syndrome. (23256957)
2005
29
An examination of how different mutations at arginine 855 of the androgen receptor result in different androgen insensitivity phenotypes. (15118070)
2004
30
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
31
Transition C2718T in the AR gene, resulting in generation of a termination codon and truncated form of the androgen receptor, causes complete androgen insensitivity syndrome. (12084976)
2002
32
Synthetic inhibitors of CDKs induce different responses in androgen sensitive and androgen insensitive prostatic cancer cell lines. (12147712)
2002
33
Phenotypic variation in a family with partial androgen insensitivity syndrome explained by differences in 5alpha dihydrotestosterone availability. (11238515)
2001
34
Novel molecular defects in the androgen receptor gene of Mexican patients with androgen insensitivity. (11260228)
2001
35
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
36
A substitutional mutation in the DNA binding domain of the androgen receptor causes complete androgen insensitivity syndrome. (10599549)
1999
37
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
38
Molecular analysis of the androgen receptor gene in 4 patients with complete androgen insensitivity. (9544375)
1998
39
Wide variation in androgen receptor dysfunction in complete androgen insensitivity syndrome. (9328206)
1997
40
Androgen insensitivity syndrome: a survey of diagnostic procedures and management in the UK. (9389232)
1997
41
Mosaicism due to a somatic mutation of the androgen receptor gene determines phenotype in androgen insensitivity syndrome. (9360511)
1997
42
Sex, lies and androgen insensitivity syndrome. (8653640)
1996
43
Medical ethics and truth telling in the case of androgen insensitivity syndrome. (8630847)
1996
44
Characterization of mutant androgen receptors causing partial androgen insensitivity syndrome. (8126121)
1994
45
Single amino acid substitution (840Arg-->His) in the hormone-binding domain of the androgen receptor leads to incomplete androgen insensitivity syndrome associated with a thermolabile androgen receptor. (8205256)
1994
46
Complete androgen insensitivity syndrome associated with a de novo mutation of the androgen receptor gene detected by single strand conformation polymorphism. (8096390)
1993
47
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
48
Androgen dependent stimulation of aromatase activity in genital skin fibroblasts from normals and patients with androgen insensitivity. (1769135)
1991
49
Functional characterization of naturally occurring mutant androgen receptors from subjects with complete androgen insensitivity. (2082179)
1990
50
The presence of MA1llerian remnants in the complete androgen insensitivity syndrome: a steroid hormone-mediated defect? (3753943)
1986

Variations for Androgen Insensitivity

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

67 (show all 110)
id Symbol AA change Variation ID SNP ID
1ARp.Ile664AsnVAR_004687
2ARp.Leu677ProVAR_004688
3ARp.Asp695HisVAR_004690
4ARp.Asp695AsnVAR_004691
5ARp.Asp695ValVAR_004692
6ARp.Ser703GlyVAR_004693
7ARp.Leu707ArgVAR_004694
8ARp.Asp732AsnVAR_004696
9ARp.Asp732TyrVAR_004697
10ARp.Gly743ValVAR_004699
11ARp.Met749ValVAR_004700
12ARp.Gly750AspVAR_004701
13ARp.Arg752GlnVAR_004702
14ARp.Phe754ValVAR_004703
15ARp.Leu762PheVAR_004704
16ARp.Ala765ThrVAR_004707
17ARp.Arg774HisVAR_004708
18ARp.Arg774CysVAR_004709
19ARp.Arg779TrpVAR_004710
20ARp.Met780IleVAR_004711
21ARp.Cys784TyrVAR_004712
22ARp.Met787ValVAR_004713
23ARp.Phe794SerVAR_004714
24ARp.Gln798GluVAR_004715
25ARp.Met807ArgVAR_004716
26ARp.Met807ValVAR_004717
27ARp.Ser814AsnVAR_004718
28ARp.Arg831LeuVAR_004719
29ARp.Arg831GlnVAR_004720
30ARp.Arg840CysVAR_004721
31ARp.Arg840HisVAR_004723
32ARp.Ile842ThrVAR_004724
33ARp.Arg855CysVAR_004725
34ARp.Arg855HisVAR_004726
35ARp.Asp864AsnVAR_004727
36ARp.Val866GluVAR_004728
37ARp.Val866MetVAR_004730
38ARp.Pro892LeuVAR_004733
39ARp.Met895ThrVAR_004734
40ARp.Leu907PheVAR_004735
41ARp.Gln194ArgVAR_009224
42ARp.Leu255ProVAR_009225
43ARp.Pro390ArgVAR_009226
44ARp.Pro390SerVAR_009227
45ARp.Gly214ArgVAR_009715
46ARp.Gly491SerVAR_009719
47ARp.Pro548SerVAR_009722
48ARp.Cys559TyrVAR_009723
49ARp.Tyr571CysVAR_009727
50ARp.Ala573AspVAR_009728
51ARp.Cys576PheVAR_009731
52ARp.Cys576ArgVAR_009732
53ARp.Cys579PheVAR_009733
54ARp.Cys579TyrVAR_009734
55ARp.Val581PheVAR_009736
56ARp.Arg585LysVAR_009740
57ARp.Ala596ThrVAR_009743
58ARp.Cys601PheVAR_009746
59ARp.Cys611TyrVAR_009749
60ARp.Arg615HisVAR_009751
61ARp.Arg615ProVAR_009752
62ARp.Leu616ProVAR_009753
63ARp.Arg617ProVAR_009755
64ARp.Glu681LysVAR_009764
65ARp.Val684IleVAR_009766
66ARp.Gly688GluVAR_009769
67ARp.Leu700MetVAR_009771
68ARp.Leu701PheVAR_009772
69ARp.Leu701HisVAR_009773
70ARp.Ser702AlaVAR_009774
71ARp.Ser703CysVAR_009775
72ARp.Asn705SerVAR_009776
73ARp.Gly708ValVAR_009778
74ARp.Arg710ThrVAR_009779
75ARp.Leu722PheVAR_009785
76ARp.Pro723SerVAR_009786
77ARp.Gly724AspVAR_009787
78ARp.Asn727LysVAR_009790
79ARp.Trp741ArgVAR_009794
80ARp.Leu744PheVAR_009796
81ARp.Trp751ArgVAR_009804
82ARp.Ser759PheVAR_009810
83ARp.Tyr763HisVAR_009812
84ARp.Phe764LeuVAR_009813
85ARp.Ala765ValVAR_009814
86ARp.Pro766SerVAR_009815
87ARp.Asp767GluVAR_009816
88ARp.Leu768ProVAR_009817
89ARp.Arg788SerVAR_009822
90ARp.Leu790PheVAR_009823
91ARp.Leu812PheVAR_009828
92ARp.Gly820AlaVAR_009829
93ARp.Tyr834CysVAR_009832
94ARp.Phe856LeuVAR_009836
95ARp.Leu863ArgVAR_009837
96ARp.Asp864GlyVAR_009838
97ARp.Ser865ProVAR_009839
98ARp.Arg871GlyVAR_009842
99ARp.Leu881ValVAR_009846
100ARp.Met886ValVAR_009847
101ARp.Val889MetVAR_009848
102ARp.Ile898ThrVAR_009852
103ARp.Pro904HisVAR_009855
104ARp.Pro904SerVAR_009856
105ARp.Phe916LeuVAR_009861
106ARp.His917ArgVAR_009862
107ARp.Asn705TyrVAR_013475
108ARp.Gly743GluVAR_013477
109ARp.His874ArgVAR_013479
110ARp.Asp879TyrVAR_013480

Clinvar genetic disease variations for Androgen Insensitivity:

5
id Gene Variation Type Significance SNP ID Assembly Location
1ARNM_000044.3(AR)undetermined variantPathogenicGRCh37Chr X, 66765160: 66765162
2ARNM_000044.3(AR): c.2571C> G (p.Phe857Leu)single nucleotide variantPathogenicrs137852598GRCh37Chr X, 66942790: 66942790
3ARNM_000044.3(AR): c.2521C> T (p.Arg841Cys)single nucleotide variantPathogenicrs137852577GRCh37Chr X, 66942740: 66942740
4ARNM_000044.3(AR): c.2667C> T (p.Ser889=)single nucleotide variantPathogenicrs137852594GRCh37Chr X, 66943587: 66943587
5ARNM_000044.3(AR): c.2137C> T (p.Leu713Phe)single nucleotide variantPathogenicrs137852595GRCh37Chr X, 66931495: 66931495
6ARNM_000044.3(AR): c.1732G> A (p.Gly578Arg)single nucleotide variantPathogenicrs137852596GRCh37Chr X, 66863213: 66863213
7ARNM_000044.3(AR): c.2596T> C (p.Ser866Pro)single nucleotide variantPathogenicrs137852597GRCh37Chr X, 66942815: 66942815

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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Pathways related to Androgen Insensitivity according to GeneCards Suite gene sharing:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.9AR, SRY
29.8AR, SHBG
39.7AR, CGA
4
Show member pathways
9.5AR, SHBG, SRY

GO Terms for genes affiliated with Androgen Insensitivity

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Cellular components related to Androgen Insensitivity according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1neuronal cell bodyGO:00430259.2APOD, INHA, SRD5A2

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

idNameGO IDScoreTop Affiliating Genes
1cell-cell signalingGO:00072678.6AR, CGA, INHA, SRD5A2
2male gonad developmentGO:00085848.5AR, INHA, MAMLD1, SRD5A2, SRY

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

idNameGO IDScoreTop Affiliating Genes
1androgen bindingGO:00054979.8AR, SHBG

Sources for Androgen Insensitivity

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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