MCID: AND002
MIFTS: 56

Androgen Insensitivity Syndrome

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

Aliases & Classifications for Androgen Insensitivity Syndrome

MalaCards integrated aliases for Androgen Insensitivity Syndrome:

Name: Androgen Insensitivity Syndrome 57 12 76 24 53 25 75 55 15
Androgen Receptor Deficiency 57 53 25 75 73
Androgen Resistance Syndrome 12 25 75 29 6
Dihydrotestosterone Receptor Deficiency 57 53 25 75
Testicular Feminization 12 24 29 73
Dhtr Deficiency 57 53 25 75
Ais 57 53 25 75
Testicular Feminization Syndrome 57 12 75
Androgen-Insensitivity Syndrome 12 44 73
Ar Deficiency 57 25 75
Androgen Insensitivity 57 13
Tfm 57 75
Complete Androgen Insensitivity Syndrome 75
Testicular Feminization Syndrome; Tfm 57
Syndrome, Insensitivity, Androgen 40
Goldberg - Maxwell Syndrome 12
Androgen Insensitivity Nos 73
Feminisation - Testicular 12
Goldberg-Maxwell Syndrome 12
Androgen Receptor 13
Cais 75

Characteristics:

OMIM:

57
Inheritance:
x-linked recessive

Miscellaneous:
presents with inguinal hernia (prepubertal) or primary amenorrhea (post pubertal)
incidence 1/20,000-1/64,000 male births


HPO:

32
androgen insensitivity syndrome:
Inheritance x-linked recessive inheritance


GeneReviews:

24
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 Syndrome

NIH Rare Diseases : 53 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.

MalaCards based summary : Androgen Insensitivity Syndrome, also known as androgen receptor deficiency, is related to androgen insensitivity, partial and complete androgen insensitivity syndrome. An important gene associated with Androgen Insensitivity Syndrome is AR (Androgen Receptor), and among its related pathways/superpathways are CCR5 Pathway in Macrophages and Transcription Androgen Receptor nuclear signaling. Affiliated tissues include testes, uterus and breast, and related phenotypes are inguinal hernia and delayed puberty

Disease Ontology : 12 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 : 57 The androgen insensitivity syndrome is an X-linked recessive disorder in which affected males have female external genitalia, female breast development, blind vagina, absent uterus and female adnexa, and abdominal or inguinal testes, despite a normal male 46,XY karyotype. Partial androgen insensitivity (PAIS; 312300), also called Reifenstein syndrome, results in hypospadias and micropenis with gynecomastia. (300068)

UniProtKB/Swiss-Prot : 75 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 : 76 Androgen insensitivity syndrome (AIS) is an intersex condition in which there is a partial or complete... more...

GeneReviews: NBK1429

Related Diseases for Androgen Insensitivity Syndrome

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

(show top 50) (show all 114)
# Related Disease Score Top Affiliating Genes
1 androgen insensitivity, partial 33.5 AR LYVE1 SHBG
2 complete androgen insensitivity syndrome 32.8 AR CGA LYVE1 SHBG SRY
3 sex differentiation disease 30.0 AR SHBG SRY
4 gonadal dysgenesis 29.5 NR5A1 SRY
5 gynecomastia 29.4 AR CGA SHBG SRY
6 hermaphroditism 29.4 SHBG SRD5A2 SRY
7 amenorrhea 29.0 NR5A1 SHBG SRY
8 lipoid congenital adrenal hyperplasia 29.0 NR5A1 SRY
9 46 xy gonadal dysgenesis 28.8 NR5A1 SHBG SRY
10 pseudohermaphroditism 28.7 AR NR5A1 SRD5A2 SRY
11 hypospadias 27.7 AR MAMLD1 NR5A1 SRD5A2 SRY
12 androgen insensitivity syndrome, mild 12.4
13 amelogenesis imperfecta 11.8
14 autoimmune inner ear disease 11.8
15 aland island eye disease 11.7
16 scoliosis, isolated 1 11.4
17 spinal and bulbar muscular atrophy, x-linked 1 11.4
18 hypospadias 1, x-linked 11.2
19 hereditary amyloidosis 11.2
20 aortic valve insufficiency 11.1
21 childhood-onset cerebral x-linked adrenoleukodystrophy 11.1
22 hypospadias 2, x-linked 11.1
23 pediatric arterial ischemic stroke 11.0
24 amelogenesis imperfecta, type ib 11.0
25 salt and pepper developmental regression syndrome 10.9
26 jalili syndrome 10.8
27 amelogenesis imperfecta, type ie 10.8
28 amelogenesis imperfecta, type ij 10.8
29 alzheimer disease 10.7
30 47, xxy 10.5 AR SHBG
31 prostatic hypertrophy 10.4 AR SRY
32 postmenopausal atrophic vaginitis 10.4 AR SHBG
33 prostatic adenoma 10.4 AR SHBG
34 leukocyte adhesion deficiency, type i 10.4
35 porphyria, acute intermittent 10.4
36 high molecular weight kininogen deficiency 10.4
37 paroxysmal nocturnal hemoglobinuria 1 10.4
38 glucocorticoid deficiency 2 10.4
39 complement component 8 deficiency, type ii 10.4
40 complement component 8 deficiency, type i 10.4
41 myelodysplastic syndrome 10.4
42 blood coagulation disease 10.4
43 beriberi 10.4
44 male reproductive system disease 10.4 AR SRY
45 androgenic alopecia 10.4 AR SHBG
46 testicular disease 10.3 CGA SRY
47 prostatic hyperplasia, benign 10.3 AR SRD5A2
48 seborrheic dermatitis 10.3 CGA SHBG
49 neuronitis 10.3
50 inguinal hernia 10.3

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



Diseases related to Androgen Insensitivity Syndrome

Symptoms & Phenotypes for Androgen Insensitivity Syndrome

Symptoms via clinical synopsis from OMIM:

57
Genitourinary External Genitalia Male:
inguinal hernia
female external genitalia in males
underdeveloped labia
underdeveloped to normal clitoris

Skin Nails Hair Hair:
absent facial hair
sparse to absent axillary hair
sparse to absent pubic hair
luxuriant scalp hair

Growth Other:
female body habitus
female body fat distribution

Neoplasia:
sertoli cell adenomas
seminomas
malignant sex-cord stromal tumor

Chest Breasts:
gynecomastia

Growth Height:
tall for females (mean height 171.5cm)

GenitourinaryInternal GenitaliaMale:
abdominal, inguinal, or labial testes
blind vagina

Laboratory Abnormalities:
normal male karyotype (46,xy)
normal-elevated plasma testosterone (male range)
elevated plasma estrogen
elevated plasma luteinizing hormone (lh)
elevated plasma follicle stimulating hormone (fsh)


Clinical features from OMIM:

300068

Human phenotypes related to Androgen Insensitivity Syndrome:

32 (show all 23)
# Description HPO Frequency HPO Source Accession
1 inguinal hernia 32 frequent (33%) HP:0000023
2 delayed puberty 32 hallmark (90%) HP:0000823
3 neoplasm 32 HP:0002664
4 cryptorchidism 32 hallmark (90%) HP:0000028
5 primary amenorrhea 32 HP:0000786
6 gynecomastia 32 HP:0000771
7 male pseudohermaphroditism 32 hallmark (90%) HP:0000037
8 testicular neoplasm 32 occasional (7.5%) HP:0010788
9 male infertility 32 hallmark (90%) HP:0003251
10 ambiguous genitalia, male 32 hallmark (90%) HP:0000033
11 female external genitalia in individual with 46,xy karyotype 32 HP:0008730
12 sparse pubic hair 32 hallmark (90%) HP:0002225
13 aplasia/hypoplasia of the uterus 32 hallmark (90%) HP:0008684
14 sparse axillary hair 32 hallmark (90%) HP:0002215
15 labial hypoplasia 32 HP:0000066
16 absent axillary hair 32 hallmark (90%) HP:0002221
17 absent facial hair 32 HP:0002550
18 aplasia/hypoplasia of the fallopian tube 32 hallmark (90%) HP:0008655
19 absent pubic hair 32 hallmark (90%) HP:0002555
20 blind vagina 32 HP:0040314
21 growth abnormality 32 HP:0001507
22 elevated circulating follicle stimulating hormone level 32 HP:0008232
23 elevated circulating luteinizing hormone level 32 HP:0011969

Drugs & Therapeutics for Androgen Insensitivity Syndrome

Search Clinical Trials , NIH Clinical Center for Androgen Insensitivity Syndrome

Cochrane evidence based reviews: androgen-insensitivity syndrome

Genetic Tests for Androgen Insensitivity Syndrome

Genetic tests related to Androgen Insensitivity Syndrome:

# Genetic test Affiliating Genes
1 Androgen Resistance Syndrome 29 AR
2 Testicular Feminization 29

Anatomical Context for Androgen Insensitivity Syndrome

MalaCards organs/tissues related to Androgen Insensitivity Syndrome:

41
Testes, Uterus, Breast, Bone, Skin, Prostate, Testis

Publications for Androgen Insensitivity Syndrome

Articles related to Androgen Insensitivity Syndrome:

(show top 50) (show all 466)
# Title Authors Year
1
Androgen insensitivity syndrome. ( 29949163 )
2018
2
Partial androgen insensitivity syndrome caused by a deep intronic mutation creating an alternative splice acceptor site of the AR gene. ( 29396419 )
2018
3
Identification of 4 novel mutations of androgen receptor gene in 8 Chinese families with complete androgen insensitivity syndrome. ( 29693241 )
2018
4
Complete androgen insensitivity syndrome caused by c.1769-1Ga8^>a8^C mutation and activation of a cryptic splice acceptor site in the androgen receptor gene. ( 29859233 )
2018
5
Partial androgen insensitivity syndrome due to somatic mosaicism of the androgen receptor. ( 29267169 )
2018
6
Cognitive abilities in women with complete androgen insensitivity syndrome and women with gonadal dysgenesis. ( 29884451 )
2018
7
Mental Health and Disorders of Sex Development/Intersex Conditions in Iranian Culture: Congenital Adrenal Hyperplasia, 5-I+ Reductase Deficiency-Type 2, and Complete Androgen Insensitivity Syndrome. ( 29294229 )
2018
8
Androgen insensitivity syndrome: a review. ( 29768628 )
2018
9
Phenotypic and molecular characteristics of androgen insensitivity syndrome patients. ( 29785970 )
2018
10
Commentary on the Article "Androgen Insensitivity Syndrome at Prepuberty: Marked Loss of Spermatogonial Cells at Early Childhood and Presence of Gonocytes up to Puberty" by Aliberti et al. ( 29895016 )
2018
11
Aberrant breast tissue in complete androgen insensitivity syndrome. ( 29388223 )
2018
12
Androgen Insensitivity Syndrome at Prepuberty: Marked Loss of Spermatogonial Cells at Early Childhood and Presence of Gonocytes up to Puberty. ( 29393262 )
2018
13
Another Look at Hereditary Partial Androgen Insensitivity Syndrome in an Indigenous Community in the Northern Territory of Australia. ( 29205656 )
2017
14
Mild androgen insensitivity syndrome (MAIS): the identification of c.1783C>T mutation in two unrelated infertile men. ( 28659371 )
2017
15
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
16
Update on the Pathophysiology and Risk Factors for the Development of Malignant Testicular Germ Cell Tumors in Complete Androgen Insensitivity Syndrome. ( 28719895 )
2017
17
A rare polypyrimidine tract mutation in the androgen receptor gene results in complete androgen insensitivity syndrome. ( 28857053 )
2017
18
Heterozygous Nonsense Mutation in the Androgen Receptor Gene Associated with Partial Androgen Insensitivity Syndrome in an Individual with 47,XXY Karyotype. ( 28456808 )
2017
19
[Analysis of AR gene mutation in a family affected with complete androgen insensitivity syndrome using long chain RT-PCR]. ( 28186600 )
2017
20
Creation of a Neovagina by Laparoscopic Modified Davydov Vaginoplasty in Patients with Partial Androgen Insensitivity Syndrome. ( 28802954 )
2017
21
Functional Impact of Novel Androgen Receptor Mutations on the Clinical Manifestation of Androgen Insensitivity Syndrome. ( 29237170 )
2017
22
Hormone replacement treatment choices in complete androgen insensitivity syndrome: an audit of an adult clinic. ( 28615185 )
2017
23
Frequency of gonadal tumours in complete androgen insensitivity syndrome (CAIS): A retrospective case-series analysis. ( 28351649 )
2017
24
Bone Mineral Density in Women Living with Complete Androgen Insensitivity Syndrome and Intact Testes or Removed Gonads. ( 28715798 )
2017
25
Prenatal Diagnosis of Twin Fetuses with a Novel AR Gene Mutation in a Chinese Family of Complete Androgen Insensitivity Syndrome. ( 29206494 )
2017
26
Increased psychiatric morbidity in women with complete androgen insensitivity syndrome or complete gonadal dysgenesis. ( 28867417 )
2017
27
Clinical and genetic characterization of six cases with complete androgen insensitivity syndrome in China. ( 28947719 )
2017
28
Bone mineral density in complete androgen insensitivity syndrome and the timing of gonadectomy. ( 28493277 )
2017
29
Bilateral Sertoli Cell Tumors in a Patient with Androgen Insensitivity Syndrome. ( 28386495 )
2017
30
Re: Topical Dihydrotestosterone to Treat Micropenis Secondary to Partial Androgen Insensitivity Syndrome (PAIS) before, during, and after Puberty-A Case Series. ( 28905769 )
2017
31
Gonadal Surgery in Complete Androgen Insensitivity Syndrome: A Debate. ( 28609774 )
2017
32
Sexual orientation and medical history among Iranian people with Complete Androgen Insensitivity Syndrome and Congenital Adrenal Hyperplasia. ( 27998513 )
2017
33
A recurrent synonymous mutation in the human androgen receptor gene causing complete androgen insensitivity syndrome. ( 28743543 )
2017
34
Mismatch between fetal sexing and birth phenotype: aA case of complete androgen insensitivity syndrome. ( 29118296 )
2017
35
Psychological Aspects of Androgen Insensitivity Syndrome: Two Cases Illustrating Therapeutical Challenges. ( 28386489 )
2017
36
AR mutations in 28 patients with androgen insensitivity syndrome (Prader grade 0-3). ( 28624954 )
2017
37
Do sex differences in CEOAEs and 2D:4D ratios reflect androgen exposure? A study in women with complete androgen insensitivity syndrome. ( 28413602 )
2017
38
Gonadectomy in Complete Androgen Insensitivity Syndrome: Why and When? ( 28719904 )
2017
39
FDG PET/CT Image of Seminoma in Androgen Insensitivity Syndrome. ( 28604478 )
2017
40
THREE SIBLINGS WITH ANDROGEN INSENSITIVITY SYNDROME. ( 29115170 )
2016
41
Laparoscopic Gonadectomy and Hernia Repair for Complete Androgen Insensitivity Syndrome (CAIS): A Rare Cause of Primary Amenorrhea. ( 27298532 )
2016
42
Complete androgen insensitivity syndrome caused by a deep intronic pseudoexon-activating mutation in the androgen receptor gene. ( 27609317 )
2016
43
Complete Androgen Insensitivity Syndrome in Three Generations of Indian Pedigree. ( 27651630 )
2016
44
Complete androgen insensitivity syndrome or testicular feminization: review of literature based on a case report. ( 28270903 )
2016
45
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
46
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
47
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
48
Testicular Feminization or Androgen Insensitivity Syndrome (AIS) in Iran: a Retrospective Analysis of 30-Year Data. ( 27057514 )
2016
49
Mutational analysis of the androgen receptor gene in two Chinese families with complete androgen insensitivity syndrome. ( 27284311 )
2016
50
A missense mutation in the androgen receptor gene causing androgen insensitivity syndrome in a Chinese family. ( 26806084 )
2016

Variations for Androgen Insensitivity Syndrome

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

75 (show top 50) (show all 109)
# Symbol AA change Variation ID SNP ID
1 AR p.Ile665Asn VAR_004687
2 AR p.Leu678Pro VAR_004688 rs137852579
3 AR p.Asp696His VAR_004690
4 AR p.Asp696Asn VAR_004691
5 AR p.Asp696Val VAR_004692
6 AR p.Ser704Gly VAR_004693
7 AR p.Leu708Arg VAR_004694 rs137852585
8 AR p.Asp733Asn VAR_004696
9 AR p.Asp733Tyr VAR_004697
10 AR p.Gly744Val VAR_004699 rs137852600
11 AR p.Met750Val VAR_004700
12 AR p.Gly751Asp VAR_004701
13 AR p.Arg753Gln VAR_004702
14 AR p.Phe755Val VAR_004703
15 AR p.Leu763Phe VAR_004704
16 AR p.Ala766Thr VAR_004707
17 AR p.Arg775His VAR_004708 rs137852572
18 AR p.Arg775Cys VAR_004709 rs137852562
19 AR p.Arg780Trp VAR_004710
20 AR p.Met781Ile VAR_004711 rs137852589
21 AR p.Cys785Tyr VAR_004712
22 AR p.Met788Val VAR_004713 rs137852570
23 AR p.Phe795Ser VAR_004714
24 AR p.Gln799Glu VAR_004715 rs137852591
25 AR p.Met808Arg VAR_004716
26 AR p.Met808Val VAR_004717
27 AR p.Ser815Asn VAR_004718
28 AR p.Arg832Leu VAR_004719
29 AR p.Arg832Gln VAR_004720
30 AR p.Arg841Cys VAR_004721 rs137852577
31 AR p.Arg841His VAR_004723 rs9332969
32 AR p.Ile843Thr VAR_004724 rs9332970
33 AR p.Arg856Cys VAR_004725 rs886041132
34 AR p.Arg856His VAR_004726 rs9332971
35 AR p.Asp865Asn VAR_004727
36 AR p.Val867Glu VAR_004728
37 AR p.Val867Met VAR_004730 rs137852564
38 AR p.Pro893Leu VAR_004733
39 AR p.Met896Thr VAR_004734
40 AR p.Leu908Phe VAR_004735
41 AR p.Gln196Arg VAR_009224
42 AR p.Leu257Pro VAR_009225
43 AR p.Pro392Arg VAR_009226 rs773996740
44 AR p.Pro392Ser VAR_009227 rs201934623
45 AR p.Gly492Ser VAR_009719
46 AR p.Pro549Ser VAR_009722 rs137852588
47 AR p.Cys560Tyr VAR_009723
48 AR p.Tyr572Cys VAR_009727
49 AR p.Ala574Asp VAR_009728
50 AR p.Cys577Phe VAR_009731

ClinVar genetic disease variations for Androgen Insensitivity Syndrome:

6
(show top 50) (show all 231)
# Gene Variation Type Significance SNP ID Assembly Location
1 AR AR, PARTIAL DEL deletion Pathogenic
2 AR AR, PARTIAL DEL deletion Pathogenic
3 AR NM_000044.4(AR): c.2323C> T (p.Arg775Cys) single nucleotide variant Pathogenic rs137852562 GRCh37 Chromosome X, 66941679: 66941679
4 AR NM_000044.4(AR): c.2323C> T (p.Arg775Cys) single nucleotide variant Pathogenic rs137852562 GRCh38 Chromosome X, 67721837: 67721837
5 AR NM_000044.4(AR): c.2157G> A (p.Trp719Ter) single nucleotide variant Pathogenic rs137852563 GRCh37 Chromosome X, 66931515: 66931515
6 AR NM_000044.4(AR): c.2157G> A (p.Trp719Ter) single nucleotide variant Pathogenic rs137852563 GRCh38 Chromosome X, 67711673: 67711673
7 AR NM_000044.4(AR): c.2599G> A (p.Val867Met) single nucleotide variant Pathogenic rs137852564 GRCh37 Chromosome X, 66942818: 66942818
8 AR NM_000044.4(AR): c.2599G> A (p.Val867Met) single nucleotide variant Pathogenic rs137852564 GRCh38 Chromosome X, 67722976: 67722976
9 AR NM_000044.4(AR): c.2391G> A (p.Trp797Ter) single nucleotide variant Pathogenic rs137852565 GRCh37 Chromosome X, 66941747: 66941747
10 AR NM_000044.4(AR): c.2391G> A (p.Trp797Ter) single nucleotide variant Pathogenic rs137852565 GRCh38 Chromosome X, 67721905: 67721905
11 AR NM_000044.4(AR): c.1771A> T (p.Lys591Ter) single nucleotide variant Pathogenic rs137852566 GRCh37 Chromosome X, 66905854: 66905854
12 AR NM_000044.4(AR): c.1771A> T (p.Lys591Ter) single nucleotide variant Pathogenic rs137852566 GRCh38 Chromosome X, 67686012: 67686012
13 AR NM_000044.4(AR): c.2650A> T (p.Lys884Ter) single nucleotide variant Pathogenic rs137852568 GRCh37 Chromosome X, 66943570: 66943570
14 AR NM_000044.4(AR): c.2650A> T (p.Lys884Ter) single nucleotide variant Pathogenic rs137852568 GRCh38 Chromosome X, 67723728: 67723728
15 AR NM_000044.4(AR): c.1789G> A (p.Ala597Thr) single nucleotide variant Pathogenic rs137852569 GRCh37 Chromosome X, 66905872: 66905872
16 AR NM_000044.4(AR): c.1789G> A (p.Ala597Thr) single nucleotide variant Pathogenic rs137852569 GRCh38 Chromosome X, 67686030: 67686030
17 AR NM_000044.4(AR): c.2362A> G (p.Met788Val) single nucleotide variant Pathogenic rs137852570 GRCh37 Chromosome X, 66941718: 66941718
18 AR NM_000044.4(AR): c.2362A> G (p.Met788Val) single nucleotide variant Pathogenic rs137852570 GRCh38 Chromosome X, 67721876: 67721876
19 AR NM_000044.4(AR): c.180_181delGC (p.Gln61Alafs) deletion Pathogenic rs869320731 GRCh37 Chromosome X, 66765168: 66765169
20 AR NM_000044.4(AR): c.180_181delGC (p.Gln61Alafs) deletion Pathogenic rs869320731 GRCh38 Chromosome X, 67545326: 67545327
21 AR NM_000044.4(AR): c.2571C> G (p.Phe857Leu) single nucleotide variant Pathogenic rs137852598 GRCh37 Chromosome X, 66942790: 66942790
22 AR NM_000044.4(AR): c.2571C> G (p.Phe857Leu) single nucleotide variant Pathogenic rs137852598 GRCh38 Chromosome X, 67722948: 67722948
23 AR NM_000044.4(AR): c.2324G> A (p.Arg775His) single nucleotide variant Pathogenic rs137852572 GRCh37 Chromosome X, 66941680: 66941680
24 AR NM_000044.4(AR): c.2324G> A (p.Arg775His) single nucleotide variant Pathogenic rs137852572 GRCh38 Chromosome X, 67721838: 67721838
25 AR NM_000044.4(AR): c.2567G> A (p.Arg856His) single nucleotide variant Pathogenic rs9332971 GRCh37 Chromosome X, 66942786: 66942786
26 AR NM_000044.4(AR): c.2567G> A (p.Arg856His) single nucleotide variant Pathogenic rs9332971 GRCh38 Chromosome X, 67722944: 67722944
27 AR NM_000044.4(AR): c.178C> T (p.Gln60Ter) single nucleotide variant Pathogenic rs137852575 GRCh37 Chromosome X, 66765166: 66765166
28 AR NM_000044.4(AR): c.178C> T (p.Gln60Ter) single nucleotide variant Pathogenic rs137852575 GRCh38 Chromosome X, 67545324: 67545324
29 AR NM_000044.3(AR): c.(2173+1_2174-1)_(2318+1_2319-1)del deletion Pathogenic
30 AR NM_000044.3(AR): c.(2318+1_2319-1)_(2607+1_2608-1)del deletion Pathogenic
31 AR NM_000044.4(AR): c.2522G> A (p.Arg841His) single nucleotide variant Pathogenic rs9332969 GRCh37 Chromosome X, 66942741: 66942741
32 AR NM_000044.4(AR): c.2522G> A (p.Arg841His) single nucleotide variant Pathogenic rs9332969 GRCh38 Chromosome X, 67722899: 67722899
33 AR NM_000044.4(AR): c.2521C> T (p.Arg841Cys) single nucleotide variant Pathogenic rs137852577 GRCh37 Chromosome X, 66942740: 66942740
34 AR NM_000044.4(AR): c.2521C> T (p.Arg841Cys) single nucleotide variant Pathogenic rs137852577 GRCh38 Chromosome X, 67722898: 67722898
35 AR NM_000044.4(AR): c.2033T> C (p.Leu678Pro) single nucleotide variant Pathogenic rs137852579 GRCh37 Chromosome X, 66931391: 66931391
36 AR NM_000044.4(AR): c.2033T> C (p.Leu678Pro) single nucleotide variant Pathogenic rs137852579 GRCh38 Chromosome X, 67711549: 67711549
37 AR NM_000044.4(AR): c.2123T> G (p.Leu708Arg) single nucleotide variant Pathogenic rs137852585 GRCh37 Chromosome X, 66931481: 66931481
38 AR NM_000044.4(AR): c.2123T> G (p.Leu708Arg) single nucleotide variant Pathogenic rs137852585 GRCh38 Chromosome X, 67711639: 67711639
39 AR NM_000044.4(AR): c.1739G> T (p.Cys580Phe) single nucleotide variant Pathogenic rs137852586 GRCh37 Chromosome X, 66863220: 66863220
40 AR NM_000044.4(AR): c.1739G> T (p.Cys580Phe) single nucleotide variant Pathogenic rs137852586 GRCh38 Chromosome X, 67643378: 67643378
41 AR NM_000044.4(AR): c.1748T> A (p.Phe583Tyr) single nucleotide variant Pathogenic rs137852587 GRCh37 Chromosome X, 66863229: 66863229
42 AR NM_000044.4(AR): c.1748T> A (p.Phe583Tyr) single nucleotide variant Pathogenic rs137852587 GRCh38 Chromosome X, 67643387: 67643387
43 AR NM_000044.4(AR): c.2343G> T (p.Met781Ile) single nucleotide variant Pathogenic rs137852589 GRCh37 Chromosome X, 66941699: 66941699
44 AR NM_000044.4(AR): c.2343G> T (p.Met781Ile) single nucleotide variant Pathogenic rs137852589 GRCh38 Chromosome X, 67721857: 67721857
45 AR NM_000044.4(AR): c.179dupA (p.Gln61Alafs) duplication Pathogenic rs759327087 GRCh37 Chromosome X, 66765167: 66765167
46 AR NM_000044.4(AR): c.179dupA (p.Gln61Alafs) duplication Pathogenic rs759327087 GRCh38 Chromosome X, 67545325: 67545325
47 AR NM_000044.4(AR): c.2667C> T (p.Ser889=) single nucleotide variant Pathogenic rs137852594 GRCh37 Chromosome X, 66943587: 66943587
48 AR NM_000044.4(AR): c.2667C> T (p.Ser889=) single nucleotide variant Pathogenic rs137852594 GRCh38 Chromosome X, 67723745: 67723745
49 AR NM_000044.4(AR): c.2137C> T (p.Leu713Phe) single nucleotide variant Pathogenic rs137852595 GRCh37 Chromosome X, 66931495: 66931495
50 AR NM_000044.4(AR): c.2137C> T (p.Leu713Phe) single nucleotide variant Pathogenic rs137852595 GRCh38 Chromosome X, 67711653: 67711653

Expression for Androgen Insensitivity Syndrome

Search GEO for disease gene expression data for Androgen Insensitivity Syndrome.

Pathways for Androgen Insensitivity Syndrome

GO Terms for Androgen Insensitivity Syndrome

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

# Name GO ID Score Top Affiliating Genes
1 regulation of transcription by RNA polymerase II GO:0006357 9.77 AR CGA MAMLD1 NR5A1 SRY
2 cell-cell signaling GO:0007267 9.62 AR CGA NR5A1 SRD5A2
3 steroid hormone mediated signaling pathway GO:0043401 9.43 AR NR5A1
4 cellular response to hormone stimulus GO:0032870 9.4 CGA NCOA2
5 intracellular receptor signaling pathway GO:0030522 9.33 AR NCOA2 NR5A1
6 positive regulation of male gonad development GO:2000020 9.26 NR5A1 SRY
7 sex differentiation GO:0007548 9.13 AR SRD5A2 SRY
8 male gonad development GO:0008584 8.92 AR MAMLD1 NR5A1 SRD5A2

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

# Name GO ID Score Top Affiliating Genes
1 transcription factor binding GO:0008134 9.54 AR NCOA2 SRY
2 transcription factor activity, RNA polymerase II distal enhancer sequence-specific binding GO:0003705 9.4 NR5A1 SRY
3 steroid hormone receptor activity GO:0003707 9.32 AR NR5A1
4 nuclear receptor activity GO:0004879 9.26 AR NR5A1
5 lipid binding GO:0008289 9.26 APOD AR NR5A1 SHBG
6 steroid binding GO:0005496 9.16 AR SHBG
7 androgen binding GO:0005497 8.62 AR SHBG

Sources for Androgen Insensitivity Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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