AIS
MCID: AND015
MIFTS: 64

Androgen Insensitivity (AIS) 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]. the problem is compounded by situations where there is a genotype-phenotype disconnect and when individuals with features of ais are not found to have an identifiable ar pathogenic variant...


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 hypospadias 1, x-linked and complete androgen insensitivity syndrome, and has symptoms including inguinal hernia, gynecomastia and primary amenorrhea. 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, uterus and breast, and related mouse phenotypes are endocrine/exocrine gland and nervous 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 an intersex condition that results in the partial or complete... 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 167)
idRelated DiseaseScoreTop Affiliating Genes
1hypospadias 1, x-linked29.6APOD, AR, CGA, CYP19A1, LYVE1, NCOA1
2complete androgen insensitivity syndrome12.6
3androgen insensitivity, partial, with or without breast cancer12.5
4androgen insensitivity syndrome, mild12.1
5familial mediterranean fever, ar12.1
6epidermolysis bullosa dystrophica, ar12.0
7hypophosphatemic rickets, ar12.0
8immunodeficiency 27a, mycobacteriosis, ar11.9
9amelogenesis imperfecta11.7
10autoimmune inner ear disease11.7
11aland island eye disease11.5
12adolescent idiopathic scoliosis11.1
13hereditary amyloidosis11.1
14spinal and bulbar muscular atrophy of kennedy11.0
15hypospadias 2, x-linked11.0
16pediatric arterial ischemic stroke10.9
17amelogenesis imperfecta, type ib10.9
18amish infantile epilepsy syndrome10.7
19amelogenesis imperfecta, type 1e10.7
20aortic valve insufficiency10.7
21prostatitis10.4
22prostate cancer10.4
23porphyria, acute intermittent10.3
24leukocyte adhesion deficiency10.3
25paroxysmal nocturnal hemoglobinuria, somatic10.3
26c8 deficiency, type i10.3
27c8 deficiency, type ii10.3
28high molecular weight kininogen deficiency10.3
29beriberi10.3
30polyneuropathy10.2CYP19A1, SHBG
31osteogenesis imperfecta10.2AR, CYP19A1
32ulceroglandular tularemia10.2AR, SHBG
33cervical spinal canal and spinal cord meningioma10.2CGA, CYP19A1
34bardet-biedl syndrome 110.2CGA, CYP19A1
35malignant teratocarcinosarcoma10.2AR, CGA
36acute thyroiditis10.2CYP19A1, SHBG
37cerebritis10.2
38inguinal hernia10.1
39amyloidosis10.1
408p23.1 duplication syndrome10.1NR5A1, SRY
41glioblastoma mesenchymal subtype10.1AR, CYP19A1, SHBG
42gaucher's disease10.1AR, CYP19A1, SHBG
43neuronitis10.1
44esophagus sarcoma10.1AR, CYP19A1, SRY
45exocervical carcinoma10.1AR, SHBG
46trachea carcinoma in situ10.1CGA, SHBG
47epidural spinal canal meningioma10.1CGA, CYP19A1, SHBG
48alzheimer disease10.1
49breast myoepithelial neoplasm10.1AR, CGA, SHBG
50borderline personality disorder10.1AR, CYP19A1, SRD5A2

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 21)
id Description HPO Frequency HPO Source Accession
1 inguinal hernia64 HP:0000023
2 gynecomastia64 HP:0000771
3 primary amenorrhea64 HP:0000786
4 growth abnormality64 HP:0001507
5 sparse axillary hair64 HP:0002215
6 sparse pubic hair64 HP:0002225
7 absent facial hair64 HP:0002550
8 neoplasm64 HP:0002664
9 elevated follicle stimulating hormone64 HP:0008232
10 female external genitalia in individual with 46,xy karyotype64 HP:0008730
11 elevated luteinizing hormone64 HP:0011969
12 cryptorchidism64 HP:0000028
13 ambiguous genitalia, male64 HP:0000033
14 male pseudohermaphroditism64 HP:0000037
15 delayed puberty64 HP:0000823
16 absent axillary hair64 HP:0002221
17 absent pubic hair64 HP:0002555
18 male infertility64 HP:0003251
19 aplasia/hypoplasia of the fallopian tube64 HP:0008655
20 aplasia/hypoplasia of the uterus64 HP:0008684
21 testicular neoplasm64 HP:0010788

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, NR1H2, NR5A1
2MP:00036318.0APOD, AR, CGA, CYP19A1, NCOA1, NR1H2
3MP:00053897.4AR, CGA, CYP19A1, NCOA1, NR1H2, NR5A1

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 21940159351-69-66442177
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 217690357-06-556069, 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
Bicalutamida
Bicalutamide
Bicalutamide (JAN/USP/INN)
Bicalutamide [USAN:INN:BAN]
Bicalutamidum
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 2370622916-47-84189
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 2194053123-88-95284616, 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 21321
6Hormones, Hormone Substitutes, and Hormone AntagonistsPhase 1, Phase 213168
7HormonesPhase 1, Phase 214415
8Hormone AntagonistsPhase 1, Phase 213180
9Androgen AntagonistsPhase 1, Phase 2320
10Immunosuppressive AgentsPhase 1, Phase 213086
11Anti-Infective AgentsPhase 1, Phase 222062
12Antibiotics, AntitubercularPhase 1, Phase 27180
13Anti-Bacterial AgentsPhase 1, Phase 211226
14Antifungal AgentsPhase 1, Phase 23696
15
Testosteroneapproved, investigational56358-22-06013
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
Methyltestosteroneapproved56358-18-46010
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-cypionate563
18Testosterone undecanoate563
19
Testosterone enanthate563315-37-79416
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
20Estrogens2542
21Anabolic Agents513
22Antineoplastic Agents, Hormonal5592
23insulin4646
24Insulin, Globin Zinc4645

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

About this section

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, Uterus, Breast, Prostate, Skin, Bone, Testis

Publications for Androgen Insensitivity

About this section

Articles related to Androgen Insensitivity:

(show top 50)    (show all 532)
idTitleAuthorsYear
1
Do sex differences in CEOAEs and 2D:4D ratios reflect androgen exposure? A study in women with complete androgen insensitivity syndrome. (28413602)
2017
2
Bone mineral density in complete androgen insensitivity syndrome and the timing of gonadectomy. (28493277)
2017
3
Heterozygous Nonsense Mutation in the Androgen Receptor Gene Associated with Partial Androgen Insensitivity Syndrome in an Individual with 47,XXY Karyotype. (28456808)
2017
4
Frequency of gonadal tumours in complete androgen insensitivity syndrome (CAIS): A retrospective case-series analysis. (28351649)
2017
5
Effects of androgen receptor mutation on testicular histopathology of patient having complete androgen insensitivity. (28299491)
2017
6
Sexual orientation and medical history among Iranian people with Complete Androgen Insensitivity Syndrome and Congenital Adrenal Hyperplasia. (27998513)
2017
7
Bilateral Sertoli Cell Tumors in a Patient with Androgen Insensitivity Syndrome. (28386495)
2017
8
Psychological Aspects of Androgen Insensitivity Syndrome: Two Cases Illustrating Therapeutical Challenges. (28386489)
2017
9
Androgen Insensitivity Syndrome in a Family of Warmblood Horses Caused by a 25-bp Deletion of the DNA-Binding Domain of the Androgen Receptor Gene. (28192783)
2017
10
Testicular Feminization or Androgen Insensitivity Syndrome (AIS) in Iran: a Retrospective Analysis of 30-Year Data. (27057514)
2016
11
Complete Androgen Insensitivity Syndrome in Three Generations of Indian Pedigree. (27651630)
2016
12
The Multifacets of Androgen Insensitivity Syndrome. (27324169)
2016
13
Complete androgen insensitivity syndrome or testicular feminization: review of literature based on a case report. (28270903)
2016
14
Re: Meta-Analysis of Androgen Insensitivity in Preoperative Hormone Therapy in Hypospadias. (26699970)
2016
15
A missense mutation in the androgen receptor gene causing androgen insensitivity syndrome in a Chinese family. (26806084)
2016
16
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
17
Complete androgen insensitivity syndrome caused by a deep intronic pseudoexon-activating mutation in the androgen receptor gene. (27609317)
2016
18
Failure of laparoscopic Vecchietti procedure in a woman with androgen insensitivity syndrome. (27048032)
2016
19
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
20
A Recurrent Germline Mutation in the 5'UTR of the Androgen Receptor Causes Complete Androgen Insensitivity by Activating Aberrant uORF Translation. (27110943)
2016
21
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
22
Three novel and two known androgen receptor gene mutations associated with androgen insensitivity syndrome in sex-reversed XY female patients. (27994190)
2016
23
Laparoscopic Gonadectomy and Hernia Repair for Complete Androgen Insensitivity Syndrome (CAIS): A Rare Cause of Primary Amenorrhea. (27298532)
2016
24
The Long Term Outcome Of Boys With Partial Androgen Insensitivity Syndrome And A Mutation In The Androgen Receptor Gene. (27403927)
2016
25
Identification of an AR-mutation negative class of androgen insensitivity BY DETERMINING endogenous AR-ACTIVITY. (27583472)
2016
26
A Novel Mutation In Human Androgen Receptor Gene Causing Partial Androgen Insensitivity Syndrome In A Patient Presenting With Gynecomastia At Puberty. (27087292)
2016
27
Mutational analysis of the androgen receptor gene in two Chinese families with complete androgen insensitivity syndrome. (27284311)
2016
28
Complete androgen insensitivity syndrome with concomitant seminoma and Sertoli cell adenoma: an unusual combination. (28039344)
2016
29
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
30
Invasive Ductal Carcinoma in a 46,XY Partial Androgen Insensitivity Syndrome Patient on Hormone Therapy. (26024935)
2015
31
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
32
Kennedy's disease and partial androgen insensitivity syndrome. Report of 4 cases and literature review. (25857692)
2015
33
Signatures of Adverse Pathological Features, Androgen Insensitivity and Metastatic Potential in Prostate Cancer. (26408707)
2015
34
Polycystic ovary syndrome woman with heterozygous androgen receptor gene mutation who gave birth to a child with androgen insensitivity syndrome. (25798434)
2015
35
Androgen Insensitivity Syndrome: Management Considerations from Infancy to Adulthood. (26182482)
2015
36
A novel mutation of the androgen receptor gene in familial complete androgen insensitivity syndrome. (26592841)
2015
37
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
38
Transient receptor potential melastatin 4 channel contributes to migration of androgen-insensitive prostate cancer cells. (26496025)
2015
39
Topical dihydrotestosterone to treat micropenis secondary to partial androgen insensitivity syndrome (PAIS) before, during, and after puberty - a case series. (26352087)
2015
40
Imaging characteristics of androgen insensitivity syndrome. (25721709)
2015
41
Graham Little-Piccardi-Lassueur syndrome in a patient with androgen insensitivity syndrome. (26566966)
2015
42
Characteristic features of reproductive hormone profiles in late adolescent and adult females with complete androgen insensitivity syndrome. (25613104)
2015
43
Chromosomal Study is Must for Prepubertal Girl with Inguinal Hernia: Opportunity to Diagnose Complete Androgen Insensitivity Syndrome. (26023570)
2015
44
Usefulness and role of magnetic resonance imaging in a case of complete androgen insensitivity syndrome. (27398128)
2015
45
Complete androgen insensitivity syndrome associated with male gender identity or female precocious puberty in the same family. (25633053)
2015
46
Partial androgen insensitivity syndrome with persistent mA1llerian remnants. A case report. (26242926)
2015
47
Different types of androgen receptor mutations in patients with complete androgen insensitivity syndrome. (25674389)
2015
48
Meta-analysis of Androgen Insensitivity in Preoperative Hormone Therapy in Hypospadias. (25805521)
2015
49
Discordant embryonic aneuploidy testing and prenatal ultrasonography prompting androgen insensitivity syndrome diagnosis. (25569013)
2015
50
Androgen insensitivity syndrome. (26303084)
2015

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 33)
id Gene Variation Type Significance SNP ID Assembly Location
1ARNM_ 000044.4(AR)undetermined variantPathogenicGRCh38Chr X, 67545318: 67545320
2ARNM_ 000044.4(AR): c.1685T> C (p.Ile562Thr)SNVLikely pathogenicrs886041050GRCh38Chr X, 67643324: 67643324
3ARNM_ 000044.4(AR): c.865G> T (p.Glu289Ter)SNVPathogenicrs750324117GRCh37Chr X, 66765853: 66765853
4ARAR, PARTIAL DELdeletionPathogenic
5ARAR, PARTIAL DELdeletionPathogenic
6ARNM_ 000044.4(AR): c.2323C> T (p.Arg775Cys)SNVPathogenicrs137852562GRCh37Chr X, 66941679: 66941679
7ARNM_ 000044.4(AR): c.2157G> A (p.Trp719Ter)SNVPathogenicrs137852563GRCh37Chr X, 66931515: 66931515
8ARNM_ 000044.4(AR): c.2599G> A (p.Val867Met)SNVPathogenicrs137852564GRCh37Chr X, 66942818: 66942818
9ARNM_ 000044.4(AR): c.2391G> A (p.Trp797Ter)SNVPathogenicrs137852565GRCh37Chr X, 66941747: 66941747
10ARNM_ 000044.4(AR): c.1771A> T (p.Lys591Ter)SNVPathogenicrs137852566GRCh37Chr X, 66905854: 66905854
11ARNM_ 000044.4(AR): c.2650A> T (p.Lys884Ter)SNVPathogenicrs137852568GRCh37Chr X, 66943570: 66943570
12ARNM_ 000044.4(AR): c.2362A> G (p.Met788Val)SNVPathogenicrs137852570GRCh37Chr X, 66941718: 66941718
13ARNM_ 000044.4(AR): c.180_ 181delGC (p.Gln61Alafs)deletionPathogenicrs869320731GRCh37Chr X, 66765168: 66765169
14ARNM_ 000044.4(AR): c.2571C> G (p.Phe857Leu)SNVPathogenicrs137852598GRCh37Chr X, 66942790: 66942790
15ARNM_ 000044.4(AR): c.2324G> A (p.Arg775His)SNVPathogenicrs137852572GRCh37Chr X, 66941680: 66941680
16ARNM_ 000044.4(AR): c.178C> T (p.Gln60Ter)SNVPathogenicrs137852575GRCh37Chr X, 66765166: 66765166
17ARNM_ 000044.3(AR): c.(2173+1_ 2174-1)_ (2318+1_ 2319-1)deldeletionPathogenic
18ARNM_ 000044.3(AR): c.(2318+1_ 2319-1)_ (2607+1_ 2608-1)deldeletionPathogenic
19ARNM_ 000044.4(AR): c.2521C> T (p.Arg841Cys)SNVPathogenicrs137852577GRCh37Chr X, 66942740: 66942740
20ARNM_ 000044.4(AR): c.2033T> C (p.Leu678Pro)SNVPathogenicrs137852579GRCh37Chr X, 66931391: 66931391
21ARNM_ 000044.4(AR): c.2123T> G (p.Leu708Arg)SNVPathogenicrs137852585GRCh37Chr X, 66931481: 66931481
22ARNM_ 000044.4(AR): c.1739G> T (p.Cys580Phe)SNVPathogenicrs137852586GRCh37Chr X, 66863220: 66863220
23ARNM_ 000044.4(AR): c.1748T> A (p.Phe583Tyr)SNVPathogenicrs137852587GRCh37Chr X, 66863229: 66863229
24ARNM_ 000044.4(AR): c.2343G> T (p.Met781Ile)SNVPathogenicrs137852589GRCh37Chr X, 66941699: 66941699
25ARNM_ 000044.4(AR): c.179dupA (p.Gln61Alafs)duplicationPathogenicrs759327087GRCh37Chr X, 66765167: 66765167
26ARNM_ 000044.4(AR): c.2667C> T (p.Ser889=)SNVPathogenicrs137852594GRCh37Chr X, 66943587: 66943587
27ARNM_ 000044.4(AR): c.2137C> T (p.Leu713Phe)SNVPathogenicrs137852595GRCh37Chr X, 66931495: 66931495
28ARNM_ 000044.4(AR): c.1732G> A (p.Gly578Arg)SNVPathogenicrs137852596GRCh37Chr X, 66863213: 66863213
29ARNM_ 000044.4(AR): c.2596T> C (p.Ser866Pro)SNVPathogenicrs137852597GRCh37Chr X, 66942815: 66942815
30ARNM_ 000044.4(AR): c.2069A> C (p.His690Pro)SNVPathogenicrs137852599GRCh37Chr X, 66931427: 66931427
31ARNM_ 000044.4(AR): c.2231G> T (p.Gly744Val)SNVPathogenicrs137852600GRCh37Chr X, 66937377: 66937377
32ARNM_ 000044.4(AR): c.2231G> A (p.Gly744Glu)SNVPathogenicrs137852600GRCh37Chr X, 66937377: 66937377
33ARNM_ 000044.4(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 18)
idNameGO IDScoreTop Affiliating Genes
1androgen metabolic processGO:000820910.5CYP19A1, SRD5A2
2positive regulation of male gonad developmentGO:200002010.5NR5A1, SRY
3female genitalia developmentGO:003054010.5CYP19A1, SRD5A2
4prostate gland growthGO:006073610.5AR, CYP19A1
5female gonad developmentGO:000858510.4CYP19A1, NR5A1
6androgen receptor signaling pathwayGO:003052110.3AR, NCOA1
7testosterone biosynthetic processGO:006137010.3CYP19A1, SRD5A2
8hypothalamus developmentGO:002185410.3NCOA1, SRD5A2
9sex differentiationGO:000754810.1AR, SRD5A2, SRY
10cellular lipid metabolic processGO:004425510.1NCOA1, NR1H2
11intracellular receptor signaling pathwayGO:00305229.9AR, NCOA1, NR5A1
12steroid hormone mediated signaling pathwayGO:00434019.8AR, NR1H2, NR5A1
13cell-cell signalingGO:00072679.7AR, CGA, NR5A1, SRD5A2
14male gonad developmentGO:00085849.6AR, NCOA1, NR5A1, SRD5A2
15transcription initiation from RNA polymerase II promoterGO:00063679.3AR, NR1H2, NR5A1
16regulation of transcription from RNA polymerase II promoterGO:00063579.0AR, CGA, NR1H2, NR5A1, SRY
17positive regulation of transcription, DNA-templatedGO:00458939.0AR, NCOA1, NR1H2, NR5A1, SRY
18positive regulation of transcription from RNA polymerase II promoterGO:00459448.8AR, CGA, NCOA1, NR1H2, NR5A1

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

idNameGO IDScoreTop Affiliating Genes
1androgen bindingGO:000549710.5AR, SHBG
2steroid bindingGO:000549610.3AR, SHBG
3retinoid X receptor bindingGO:00469659.9NCOA1, NR1H2
4RNA polymerase II transcription factor activity, ligand-activated sequence-specific DNA bindingGO:00048799.8AR, NR1H2, NR5A1
5lipid bindingGO:00082899.6APOD, AR, NR5A1, SHBG
6steroid hormone receptor activityGO:00037079.3AR, NR1H2, NR5A1

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