MCID: AND015
MIFTS: 63

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 52 12
Androgen Insensitivity Syndrome 11 71 23 48 24 25 70 50 13
Androgen Resistance Syndrome 11 24 25 70 27
Androgen Receptor Deficiency 48 24 25 70 68
Testicular Feminization 11 23 24 68
Ais 48 24 25 70
Dihydrotestosterone Receptor Deficiency 48 25 70
Testicular Feminization Syndrome 11 70 27
Androgen-Insensitivity Syndrome 11 39 68
Dhtr Deficiency 48 25 70
Reifenstein Syndrome 24 68
 
Ar Deficiency 25 70
Complete Androgen Insensitivity Syndrome 70
Goldberg - Maxwell Syndrome 11
Androgen Insensitivity Nos 68
Goldberg-Maxwell Syndrome 11
Feminisation - Testicular 11
Androgen Receptor 12
Cais 70
Tfm 70
Ar 43

Characteristics:

HPO:

64
androgen insensitivity:
Inheritance: x-linked recessive inheritance

GeneReviews:

23
Penetrance: no definitive data regarding penetrance exist, possibly because of under-ascertainment of affected individuals, particularly phenotypic but infertile males in whom ar molecular genetic testing may not be performed [gottlieb et al 2005]...


Classifications:



Summaries for Androgen Insensitivity

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NIH Rare Diseases:48 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.

Genetics Home Reference:25 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 external sex characteristics or signs of both male and female sexual development.

OMIM:52 The androgen insensitivity syndrome is an X-linked recessive disorder in which affected males have female external... (300068) more...

UniProtKB/Swiss-Prot:70 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:71 Androgen insensitivity syndrome (AIS) is a condition that results in the partial or complete inability... more...

GeneReviews 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
1hypogonadism29.6AR, CYP19A1, SHBG
2klinefelter's syndrome29.4CYP19A1, NR5A1
3prostate cancer29.2AR, CYP19A1, LYVE1, SHBG, SRD5A2
4hypospadias 1, x-linked26.8APOD, AR, CGA, CYP19A1, LYVE1, MAMLD1
5androgen insensitivity, partial, with or without breast cancer12.5
6complete androgen insensitivity syndrome12.5
7androgen insensitivity syndrome, mild12.2
8familial mediterranean fever, ar12.1
9epidermolysis bullosa dystrophica, ar12.0
10hypophosphatemic rickets, ar12.0
11immunodeficiency 27a, mycobacteriosis, ar11.9
12autoimmune inner ear disease11.7
13amelogenesis imperfecta11.5
14aland island eye disease11.5
15adolescent idiopathic scoliosis11.1
16spinal and bulbar muscular atrophy of kennedy11.0
17hypospadias 2, x-linked11.0
18amelogenesis imperfecta, type ib10.9
19pediatric arterial ischemic stroke10.9
20amish infantile epilepsy syndrome10.7
21amelogenesis imperfecta, type 1e10.7
22aortic valve insufficiency10.7
23prostatitis10.4
24porphyria, acute intermittent10.4
25leukocyte adhesion deficiency10.4
26paroxysmal nocturnal hemoglobinuria, somatic10.4
27c8 deficiency, type i10.4
28c8 deficiency, type ii10.4
29high molecular weight kininogen deficiency10.4
30retroperitoneum carcinoma10.3AR, CYP19A1
31mite infestation10.3CYP19A1, SRY
32nephrogenic adenofibroma10.2CYP19A1, SRY
33adult brainstem gliosarcoma10.2AR, SRY
34cerebritis10.2
35inguinal hernia10.1
36amyloidosis10.1
37drug-induced vasculitis10.1NR5A1, SRY
38neuronitis10.1
39prolapse of lacrimal gland10.1AR, CYP19A1, SRY
4048,xxxy syndrome10.1NR5A1, SRY
41riedel's fibrosing thyroiditis10.1CYP19A1, SHBG
42gastrojejunal ulcer10.1AR, CYP19A1, SRD5A2
43abca1-related disorders10.1NR5A1, SRY
44vaginal discharge10.1AR, CYP19A1, SRD5A2
45alzheimer disease10.1
46sick sinus syndrome10.1CYP19A1, SHBG
47leydig cell tumor10.1
48seminoma10.1
49atherosclerosis10.1
50sertoli-leydig cell tumor10.0

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



Diseases related to androgen insensitivity

Symptoms & Phenotypes for Androgen Insensitivity

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Symptoms by clinical synopsis from OMIM:

300068

Clinical features from OMIM:

300068

Human phenotypes related to Androgen Insensitivity:

 64 (show all 18)
id Description HPO Frequency HPO Source Accession
1 abnormality of female internal genitalia64 hallmark (90%) HP:0000008
2 cryptorchidism64 hallmark (90%) HP:0000028
3 male pseudohermaphroditism64 hallmark (90%) HP:0000037
4 decreased fertility64 hallmark (90%) HP:0000144
5 abnormal hair quantity64 hallmark (90%) HP:0011362
6 hernia of the abdominal wall64 typical (50%) HP:0004299
7 testicular neoplasm64 occasional (7.5%) HP:0010788
8 inguinal hernia64 HP:0000023
9 gynecomastia64 HP:0000771
10 primary amenorrhea64 HP:0000786
11 growth abnormality64 HP:0001507
12 sparse axillary hair64 HP:0002215
13 sparse pubic hair64 HP:0002225
14 absent facial hair64 HP:0002550
15 neoplasm64 HP:0002664
16 elevated follicle stimulating hormone64 HP:0008232
17 female external genitalia in individual with 46,xy karyotype64 HP:0008730
18 elevated luteinizing hormone64 HP:0011969

MGI Mouse Phenotypes related to Androgen Insensitivity according to GeneCards Suite gene sharing:

41
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053798.2AR, CGA, CYP19A1, NCOA1, NR5A1, SRD5A2
2MP:00053897.5AR, CGA, CYP19A1, NCOA1, NR5A1, SRD5A2

Drugs & Therapeutics for Androgen Insensitivity

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

(show all 24)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
EverolimusapprovedPhase 1, Phase 21896159351-69-66442177
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
2
BicalutamideapprovedPhase 1, Phase 217090357-06-556069, 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-,(+-)
3
Miconazoleapproved, investigational, vet_approvedPhase 1, Phase 2362422916-47-84189
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
Sirolimusapproved, investigationalPhase 1, Phase 2189653123-88-95284616, 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 21275
6Hormones, Hormone Substitutes, and Hormone AntagonistsPhase 1, Phase 212767
7HormonesPhase 1, Phase 213979
8Hormone AntagonistsPhase 1, Phase 212778
9Androgen AntagonistsPhase 1, Phase 2308
10Immunosuppressive AgentsPhase 1, Phase 212770
11Anti-Infective AgentsPhase 1, Phase 221402
12Antibiotics, AntitubercularPhase 1, Phase 26972
13Anti-Bacterial AgentsPhase 1, Phase 210884
14Antifungal AgentsPhase 1, Phase 23615
15
Testosteroneapproved, investigational54658-22-06013
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
16
Methyltestosteroneapproved54658-18-46010
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
17Testosterone 17 beta-cypionate546
18Testosterone undecanoate546
19
Testosterone enanthate546315-37-79416
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
20Estrogens2470
21Anabolic Agents499
22Antineoplastic Agents, Hormonal5407
23insulin4524
24Insulin, Globin Zinc4523

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 Syndrome27
2 Testicular Feminization27
3 Androgen Insensitivity Syndrome24 AR

Anatomical Context for Androgen Insensitivity

About this section

MalaCards organs/tissues related to Androgen Insensitivity:

36
Testes, Breast, Uterus, Prostate, Skin, Bone, Testis

Publications for Androgen Insensitivity

About this section

Articles related to Androgen Insensitivity:

(show top 50)    (show all 523)
idTitleAuthorsYear
1
Sexual orientation and medical history among Iranian people with Complete Androgen Insensitivity Syndrome and Congenital Adrenal Hyperplasia. (27998513)
2017
2
The Multifacets of Androgen Insensitivity Syndrome. (27324169)
2016
3
A missense mutation in the androgen receptor gene causing androgen insensitivity syndrome in a Chinese family. (26806084)
2016
4
Identification of an AR-mutation negative class of androgen insensitivity BY DETERMINING endogenous AR-ACTIVITY. (27583472)
2016
5
Mutational analysis of the androgen receptor gene in two Chinese families with complete androgen insensitivity syndrome. (27284311)
2016
6
Failure of laparoscopic Vecchietti procedure in a woman with androgen insensitivity syndrome. (27048032)
2016
7
A Novel Mutation In Human Androgen Receptor Gene Causing Partial Androgen Insensitivity Syndrome In A Patient Presenting With Gynecomastia At Puberty. (27087292)
2016
8
Whole exome sequencing and single nucleotide polymorphism array analyses to identify germline alterations in genes associated with testosterone metabolism in a patient with androgen insensitivity syndrome and early-onset colorectal cancer. (27267075)
2016
9
A Recurrent Germline Mutation in the 5'UTR of the Androgen Receptor Causes Complete Androgen Insensitivity by Activating Aberrant uORF Translation. (27110943)
2016
10
Clinical, cytogenetic and molecular analysis of androgen insensitivity syndromes from south Indian cohort and detection and in-silico characterization of androgen receptor gene mutations. (26688387)
2016
11
Complete androgen insensitivity syndrome with concomitant seminoma and Sertoli cell adenoma: an unusual combination. (28039344)
2016
12
Re: Meta-Analysis of Androgen Insensitivity in Preoperative Hormone Therapy in Hypospadias. (26699970)
2016
13
Complete androgen insensitivity syndrome caused by a deep intronic pseudoexon-activating mutation in the androgen receptor gene. (27609317)
2016
14
Testicular Feminization or Androgen Insensitivity Syndrome (AIS) in Iran: a Retrospective Analysis of 30-Year Data. (27057514)
2016
15
Case report of whole genome sequencing in the XY female: identification of a novel SRY mutation and revision of a misdiagnosis of androgen insensitivity syndrome. (27821113)
2016
16
Laparoscopic Gonadectomy and Hernia Repair for Complete Androgen Insensitivity Syndrome (CAIS): A Rare Cause of Primary Amenorrhea. (27298532)
2016
17
Three novel and two known androgen receptor gene mutations associated with androgen insensitivity syndrome in sex-reversed XY female patients. (27994190)
2016
18
Complete Androgen Insensitivity Syndrome in Three Generations of Indian Pedigree. (27651630)
2016
19
The Long Term Outcome Of Boys With Partial Androgen Insensitivity Syndrome And A Mutation In The Androgen Receptor Gene. (27403927)
2016
20
Androgen Insensitivity Syndrome: Management Considerations from Infancy to Adulthood. (26182482)
2015
21
Complete androgen insensitivity syndrome associated with male gender identity or female precocious puberty in the same family. (25633053)
2015
22
The contribution of the androgen receptor (AR) in human spatial learning and memory: A study in women with complete androgen insensitivity syndrome (CAIS). (26522496)
2015
23
Partial androgen insensitivity syndrome with persistent mA1llerian remnants. A case report. (26242926)
2015
24
Androgen insensitivity syndrome. (26303084)
2015
25
A novel insA2933 causes premature termination of translation and is accompanied by overexpression of truncated androgen receptor gene in a patient with complete androgen insensitivity syndrome. (25997614)
2015
26
Usefulness and role of magnetic resonance imaging in a case of complete androgen insensitivity syndrome. (27398128)
2015
27
Topical dihydrotestosterone to treat micropenis secondary to partial androgen insensitivity syndrome (PAIS) before, during, and after puberty - a case series. (26352087)
2015
28
A novel mutation of the androgen receptor gene in familial complete androgen insensitivity syndrome. (26592841)
2015
29
Complete androgen insensitivity syndrome caused by a novel splice donor site mutation and activation of a cryptic splice donor site in the androgen receptor gene. (26435450)
2015
30
Different types of androgen receptor mutations in patients with complete androgen insensitivity syndrome. (25674389)
2015
31
Graham Little-Piccardi-Lassueur syndrome in a patient with androgen insensitivity syndrome. (26566966)
2015
32
Androgen insensitivity syndrome in a cohort of Sri Lankan children with 46, XY disorders of sex development (46, XY DSD). (26778393)
2015
33
Kennedy's disease and partial androgen insensitivity syndrome. Report of 4 cases and literature review. (25857692)
2015
34
Characteristic features of reproductive hormone profiles in late adolescent and adult females with complete androgen insensitivity syndrome. (25613104)
2015
35
Discordant embryonic aneuploidy testing and prenatal ultrasonography prompting androgen insensitivity syndrome diagnosis. (25569013)
2015
36
Transient receptor potential melastatin 4 channel contributes to migration of androgen-insensitive prostate cancer cells. (26496025)
2015
37
Signatures of Adverse Pathological Features, Androgen Insensitivity and Metastatic Potential in Prostate Cancer. (26408707)
2015
38
Invasive Ductal Carcinoma in a 46,XY Partial Androgen Insensitivity Syndrome Patient on Hormone Therapy. (26024935)
2015
39
Meta-analysis of Androgen Insensitivity in Preoperative Hormone Therapy in Hypospadias. (25805521)
2015
40
Chromosomal Study is Must for Prepubertal Girl with Inguinal Hernia: Opportunity to Diagnose Complete Androgen Insensitivity Syndrome. (26023570)
2015
41
Imaging characteristics of androgen insensitivity syndrome. (25721709)
2015
42
Timing of Gonadectomy in Patients with Complete Androgen Insensitivity Syndrome- Current Recommendations and Future Directions. (26428189)
2015
43
Polycystic ovary syndrome woman with heterozygous androgen receptor gene mutation who gave birth to a child with androgen insensitivity syndrome. (25798434)
2015
44
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
45
Complete androgen insensitivity syndrome in juveniles and adults with female phenotypes. (25170741)
2014
46
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
47
Prenatal diagnosis of androgen insensitivity syndrome using cell free fetal DNA. (25291542)
2014
48
The Use of MRI in the Pre-surgical Evaluation of Patients with Androgen Insensitivity Syndrome. (24001432)
2014
49
Androgen insensitivity syndrome. (25354046)
2014
50
AR and SRD5A2 gene mutations in a series of 51 Turkish 46,XY DSD children with a clinical diagnosis of androgen insensitivity. (24737579)
2014

Variations for Androgen Insensitivity

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

70 (show all 109)
id Symbol AA change Variation ID SNP ID
1ARp.Ile665AsnVAR_004687
2ARp.Leu678ProVAR_004688rs137852579
3ARp.Asp696HisVAR_004690
4ARp.Asp696AsnVAR_004691
5ARp.Asp696ValVAR_004692
6ARp.Ser704GlyVAR_004693
7ARp.Leu708ArgVAR_004694rs137852585
8ARp.Asp733AsnVAR_004696
9ARp.Asp733TyrVAR_004697
10ARp.Gly744ValVAR_004699rs137852600
11ARp.Met750ValVAR_004700
12ARp.Gly751AspVAR_004701
13ARp.Arg753GlnVAR_004702
14ARp.Phe755ValVAR_004703
15ARp.Leu763PheVAR_004704
16ARp.Ala766ThrVAR_004707
17ARp.Arg775HisVAR_004708rs137852572
18ARp.Arg775CysVAR_004709rs137852562
19ARp.Arg780TrpVAR_004710
20ARp.Met781IleVAR_004711rs137852589
21ARp.Cys785TyrVAR_004712
22ARp.Met788ValVAR_004713rs137852570
23ARp.Phe795SerVAR_004714
24ARp.Gln799GluVAR_004715rs137852591
25ARp.Met808ArgVAR_004716
26ARp.Met808ValVAR_004717
27ARp.Ser815AsnVAR_004718
28ARp.Arg832LeuVAR_004719
29ARp.Arg832GlnVAR_004720
30ARp.Arg841CysVAR_004721rs137852577
31ARp.Arg841HisVAR_004723rs9332969
32ARp.Ile843ThrVAR_004724rs9332970
33ARp.Arg856CysVAR_004725
34ARp.Arg856HisVAR_004726rs9332971
35ARp.Asp865AsnVAR_004727
36ARp.Val867GluVAR_004728
37ARp.Val867MetVAR_004730rs137852564
38ARp.Pro893LeuVAR_004733
39ARp.Met896ThrVAR_004734
40ARp.Leu908PheVAR_004735
41ARp.Gln196ArgVAR_009224
42ARp.Leu257ProVAR_009225
43ARp.Pro392ArgVAR_009226rs773996740
44ARp.Pro392SerVAR_009227rs201934623
45ARp.Gly492SerVAR_009719
46ARp.Pro549SerVAR_009722rs137852588
47ARp.Cys560TyrVAR_009723
48ARp.Tyr572CysVAR_009727
49ARp.Ala574AspVAR_009728
50ARp.Cys577PheVAR_009731
51ARp.Cys577ArgVAR_009732
52ARp.Cys580PheVAR_009733rs137852586
53ARp.Cys580TyrVAR_009734
54ARp.Val582PheVAR_009736
55ARp.Arg586LysVAR_009740
56ARp.Ala597ThrVAR_009743rs137852569
57ARp.Cys602PheVAR_009746
58ARp.Cys612TyrVAR_009749
59ARp.Arg616HisVAR_009751rs754201976
60ARp.Arg616ProVAR_009752
61ARp.Leu617ProVAR_009753
62ARp.Arg618ProVAR_009755
63ARp.Glu682LysVAR_009764
64ARp.Val685IleVAR_009766
65ARp.Gly689GluVAR_009769
66ARp.Leu701MetVAR_009771
67ARp.Leu702PheVAR_009772
68ARp.Leu702HisVAR_009773rs864622007
69ARp.Ser703AlaVAR_009774
70ARp.Ser704CysVAR_009775
71ARp.Asn706SerVAR_009776
72ARp.Gly709ValVAR_009778
73ARp.Arg711ThrVAR_009779
74ARp.Leu723PheVAR_009785
75ARp.Pro724SerVAR_009786
76ARp.Gly725AspVAR_009787
77ARp.Asn728LysVAR_009790rs768869912
78ARp.Trp742ArgVAR_009794
79ARp.Leu745PheVAR_009796
80ARp.Trp752ArgVAR_009804
81ARp.Ser760PheVAR_009810
82ARp.Tyr764HisVAR_009812
83ARp.Phe765LeuVAR_009813
84ARp.Ala766ValVAR_009814
85ARp.Pro767SerVAR_009815
86ARp.Asp768GluVAR_009816
87ARp.Leu769ProVAR_009817
88ARp.Arg789SerVAR_009822
89ARp.Leu791PheVAR_009823
90ARp.Leu813PheVAR_009828
91ARp.Gly821AlaVAR_009829
92ARp.Tyr835CysVAR_009832
93ARp.Phe857LeuVAR_009836rs137852598
94ARp.Leu864ArgVAR_009837
95ARp.Asp865GlyVAR_009838
96ARp.Ser866ProVAR_009839rs137852597
97ARp.Arg872GlyVAR_009842
98ARp.Leu882ValVAR_009846
99ARp.Met887ValVAR_009847rs755226547
100ARp.Val890MetVAR_009848
101ARp.Ile899ThrVAR_009852
102ARp.Pro905HisVAR_009855
103ARp.Pro905SerVAR_009856
104ARp.Phe917LeuVAR_009861
105ARp.His918ArgVAR_009862
106ARp.Asn706TyrVAR_013475
107ARp.Gly744GluVAR_013477rs137852600
108ARp.His875ArgVAR_013479
109ARp.Asp880TyrVAR_013480

Clinvar genetic disease variations for Androgen Insensitivity:

5 (show all 47)
id Gene Variation Type Significance SNP ID Assembly Location
1ARNM_000044.3(AR)undetermined variantPathogenicGRCh38Chr X, 67545318: 67545320
2ARNM_000044.3(AR): c.1174C> T (p.Pro392Ser)SNVPathogenicrs201934623GRCh37Chr X, 66766162: 66766162
3ARNM_000044.3(AR): c.1685T> C (p.Ile562Thr)SNVLikely pathogenicrs886041050GRCh38Chr X, 67643324: 67643324
4ARAR, PARTIAL DELdeletionPathogenicChr na, -1: -1
5ARAR, PARTIAL DELdeletionPathogenicChr na, -1: -1
6ARNM_000044.3(AR): c.2323C> T (p.Arg775Cys)SNVPathogenicrs137852562GRCh37Chr X, 66941679: 66941679
7ARNM_000044.3(AR): c.2157G> A (p.Trp719Ter)SNVPathogenicrs137852563GRCh37Chr X, 66931515: 66931515
8ARNM_000044.3(AR): c.2599G> A (p.Val867Met)SNVPathogenicrs137852564GRCh37Chr X, 66942818: 66942818
9ARNM_000044.3(AR): c.2391G> A (p.Trp797Ter)SNVPathogenicrs137852565GRCh37Chr X, 66941747: 66941747
10ARNM_000044.3(AR): c.1771A> T (p.Lys591Ter)SNVPathogenicrs137852566GRCh37Chr X, 66905854: 66905854
11ARNM_000044.3(AR): c.2291A> G (p.Tyr764Cys)SNVPathogenicrs137852567GRCh37Chr X, 66937437: 66937437
12ARNM_000044.3(AR): c.2650A> T (p.Lys884Ter)SNVPathogenicrs137852568GRCh37Chr X, 66943570: 66943570
13ARNM_000044.3(AR): c.1789G> A (p.Ala597Thr)SNVPathogenicrs137852569GRCh37Chr X, 66905872: 66905872
14ARNM_000044.3(AR): c.2362A> G (p.Met788Val)SNVPathogenicrs137852570GRCh37Chr X, 66941718: 66941718
15ARNM_000044.3(AR): c.180_181delGC (p.Gln61Alafs)deletionPathogenicrs869320731GRCh37Chr X, 66765168: 66765169
16ARNM_000044.3(AR): c.2571C> G (p.Phe857Leu)SNVPathogenicrs137852598GRCh37Chr X, 66942790: 66942790
17ARNM_000044.3(AR): c.2324G> A (p.Arg775His)SNVPathogenicrs137852572GRCh37Chr X, 66941680: 66941680
18ARNM_000044.3(AR): c.1823G> A (p.Arg608Gln)SNVPathogenicrs137852573GRCh37Chr X, 66905906: 66905906
19ARNM_000044.3(AR): c.2599G> T (p.Val867Leu)SNVPathogenicrs137852564GRCh37Chr X, 66942818: 66942818
20ARNM_000044.3(AR): c.2567G> A (p.Arg856His)SNVPathogenicrs9332971GRCh37Chr X, 66942786: 66942786
21ARNM_000044.3(AR): c.178C> T (p.Gln60Ter)SNVPathogenicrs137852575GRCh37Chr X, 66765166: 66765166
22ARNM_000044.3(AR): c.(2173+1_2174-1)_(2318+1_2319-1)deldeletionPathogenicChr na, -1: -1
23ARNM_000044.3(AR): c.(2318+1_2319-1)_(2607+1_2608-1)deldeletionPathogenicChr na, -1: -1
24ARNM_000044.3(AR): c.2522G> A (p.Arg841His)SNVPathogenicrs9332969GRCh37Chr X, 66942741: 66942741
25ARNM_000044.3(AR): c.2521C> T (p.Arg841Cys)SNVPathogenicrs137852577GRCh37Chr X, 66942740: 66942740
26ARNM_000044.3(AR): c.2033T> C (p.Leu678Pro)SNVPathogenicrs137852579GRCh37Chr X, 66931391: 66931391
27ARNM_000044.3(AR): c.2123T> G (p.Leu708Arg)SNVPathogenicrs137852585GRCh37Chr X, 66931481: 66931481
28ARNM_000044.3(AR): c.1739G> T (p.Cys580Phe)SNVPathogenicrs137852586GRCh37Chr X, 66863220: 66863220
29ARNM_000044.3(AR): c.1748T> A (p.Phe583Tyr)SNVPathogenicrs137852587GRCh37Chr X, 66863229: 66863229
30ARNM_000044.3(AR): c.4G> A (p.Glu2Lys)SNVPathogenicrs104894742GRCh37Chr X, 66764992: 66764992
31ARNM_000044.3(AR): c.2343G> T (p.Met781Ile)SNVPathogenicrs137852589GRCh37Chr X, 66941699: 66941699
32ARAR, IVS2AS, T-A, -11SNVPathogenicChr na, -1: -1
33ARNM_000044.3(AR): c.521T> G (p.Leu174Ter)SNVPathogenicrs137852590GRCh37Chr X, 66765509: 66765509
34ARNM_000044.3(AR): c.2395C> G (p.Gln799Glu)SNVLikely pathogenic, Pathogenicrs137852591GRCh37Chr X, 66941751: 66941751
35ARNM_000044.3(AR): c.2423T> C (p.Met808Thr)SNVPathogenicrs137852592GRCh37Chr X, 66941779: 66941779
36ARNM_000044.3(AR): c.179dupA (p.Gln61Alafs)duplicationPathogenicrs759327087GRCh37Chr X, 66765167: 66765167
37ARNM_000044.3(AR): c.2667C> T (p.Ser889=)SNVPathogenicrs137852594GRCh37Chr X, 66943587: 66943587
38ARAR, IVS6, G-T, +5SNVPathogenicChr na, -1: -1
39ARNM_000044.3(AR): c.2137C> T (p.Leu713Phe)SNVPathogenicrs137852595GRCh37Chr X, 66931495: 66931495
40ARNM_000044.3(AR): c.1732G> A (p.Gly578Arg)SNVPathogenicrs137852596GRCh37Chr X, 66863213: 66863213
41ARNM_000044.3(AR): c.2596T> C (p.Ser866Pro)SNVPathogenicrs137852597GRCh37Chr X, 66942815: 66942815
42ARNM_000044.3(AR): c.2069A> C (p.His690Pro)SNVPathogenicrs137852599GRCh37Chr X, 66931427: 66931427
43ARNM_000044.3(AR): c.2231G> T (p.Gly744Val)SNVPathogenicrs137852600GRCh37Chr X, 66937377: 66937377
44ARNM_000044.3(AR): c.2231G> A (p.Gly744Glu)SNVPathogenicrs137852600GRCh37Chr X, 66937377: 66937377
45ARNM_000044.3(AR): c.2281_2287delAGGATGCinsTTCGCCCCTGA (p.Arg761Phefs)indelPathogenicrs869320732GRCh38Chr X, 67717585: 67717591
46ARNM_000044.3(AR): c.2222C> G (p.Ser741Cys)SNVPathogenicrs137852601GRCh37Chr X, 66937368: 66937368
47ARNM_000044.3(AR): c.1937C> A (p.Ala646Asp)SNVPathogenicrs1800053GRCh37Chr X, 66931295: 66931295

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
1positive regulation of male gonad developmentGO:200002010.5NR5A1, SRY
2androgen metabolic processGO:000820910.3CYP19A1, SRD5A2
3prostate gland growthGO:006073610.1AR, CYP19A1
4androgen receptor signaling pathwayGO:003052110.1AR, NCOA1
5hypothalamus developmentGO:002185410.0NCOA1, SRD5A2
6cellular response to hormone stimulusGO:00328709.7CGA, NCOA1
7intracellular receptor signaling pathwayGO:00305229.7AR, NCOA1, NR5A1
8steroid biosynthetic processGO:00066949.6CYP19A1, SRD5A2
9cell-cell signalingGO:00072679.5AR, CGA, NR5A1, SRD5A2
10positive regulation of transcription, DNA-templatedGO:00458939.2AR, NCOA1, NR5A1, SRY
11male gonad developmentGO:00085848.6AR, MAMLD1, NCOA1, NR5A1, SRD5A2, SRY

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

idNameGO IDScoreTop Affiliating Genes
1androgen bindingGO:000549710.4AR, SHBG
2RNA polymerase II transcription factor activity, ligand-activated sequence-specific DNA bindingGO:000487910.2AR, NR5A1
3steroid bindingGO:00054969.9AR, SHBG

Sources for Androgen Insensitivity

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet