AR
MCID: AND002
MIFTS: 61

Androgen Insensitivity Syndrome (AR)

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

Aliases & Classifications for Androgen Insensitivity Syndrome

MalaCards integrated aliases for Androgen Insensitivity Syndrome:

Name: Androgen Insensitivity Syndrome 58 12 77 25 54 26 76 38 56 15
Androgen Receptor Deficiency 58 54 26 76 74
Androgen Resistance Syndrome 12 26 76 30 6
Dihydrotestosterone Receptor Deficiency 58 54 26 76
Dhtr Deficiency 58 54 26 76
Ais 58 54 26 76
Testicular Feminization Syndrome 58 12 76
Androgen-Insensitivity Syndrome 12 45 74
Testicular Feminization 12 25 74
Ar Deficiency 58 26 76
Androgen Insensitivity 58 13
Tfm 58 76
Complete Androgen Insensitivity Syndrome 76
Testicular Feminization Syndrome; Tfm 58
Syndrome, Insensitivity, Androgen 41
Goldberg - Maxwell Syndrome 12
Androgen Insensitivity Nos 74
Feminisation - Testicular 12
Goldberg-Maxwell Syndrome 12
Androgen Receptor 13
Cais 76
Ar 49

Characteristics:

OMIM:

58
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:

33
androgen insensitivity syndrome:
Inheritance x-linked recessive inheritance


GeneReviews:

25
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 : 54 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 breast, bone and heart, and related phenotypes are delayed puberty and cryptorchidism

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 : 26 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 : 58 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 : 76 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 : 77 Androgen insensitivity syndrome (AIS) is an intersex condition that results in the 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 7263)
# Related Disease Score Top Affiliating Genes
1 androgen insensitivity, partial 33.6 AR LYVE1 SHBG
2 complete androgen insensitivity syndrome 33.3 AR CGA LYVE1 NR1H2 SHBG SRY
3 androgenic alopecia 32.3 AR SHBG
4 sebaceous gland disease 32.2 AR SHBG
5 alopecia, androgenetic, 1 32.2 AR SHBG SRD5A2
6 prostatic hyperplasia, benign 32.0 AR SHBG SRD5A2
7 wilms tumor 1 31.9 AR NR5A1 SRY
8 postmenopausal atrophic vaginitis 31.7 AR SHBG
9 pseudovaginal perineoscrotal hypospadias 31.5 AR CGA SRD5A2
10 gonadal disease 30.8 AR NR5A1 SHBG SRY
11 seborrheic dermatitis 30.6 CGA SHBG
12 varicocele 30.5 CGA SHBG
13 frasier syndrome 30.4 NR5A1 SRY
14 alternating hemiplegia of childhood 30.3 NR5A1 SRY
15 46,xx sex reversal 1 30.2 NR5A1 SRY
16 ovarian disease 30.1 CGA NR5A1 SHBG
17 47, xxy 30.1 AR SHBG
18 gynecomastia 30.0 AR CGA SHBG SRY
19 anorchia 29.9 CGA NR5A1 SRY
20 testicular cancer 29.8 AR CGA SHBG
21 persistent mullerian duct syndrome 29.7 NR5A1 SRY
22 pseudohermaphroditism 29.7 AR NR5A1 SRD5A2 SRY
23 hermaphroditism 29.6 AR CGA SRD5A2 SRY
24 46 xy gonadal dysgenesis 29.6 NR5A1 SHBG SRY
25 amenorrhea 29.6 NR5A1 SHBG SRY
26 anovulation 29.3 CGA SHBG
27 premature ovarian failure 1 29.1 NR5A1 SHBG SRY
28 hypospadias 28.9 AR MAMLD1 NR5A1 SRD5A2 SRY
29 cryptorchidism, unilateral or bilateral 28.8 AR CGA NR5A1 SHBG SRY
30 androgen insensitivity syndrome, mild 12.6
31 aland island eye disease 12.1
32 amelogenesis imperfecta 12.0
33 autoimmune inner ear disease 11.9
34 endometrial cancer 11.7
35 azoospermia 11.7
36 motor neuron disease 11.7
37 spinal muscular atrophy 11.7
38 osteoporosis 11.7
39 scoliosis, isolated 1 11.7
40 prostate disease 11.7
41 hyper-ige recurrent infection syndrome 2, autosomal recessive 11.7
42 spinocerebellar ataxia 1 11.7
43 renal tubular acidosis, distal, with progressive nerve deafness 11.6
44 paget disease, extramammary 11.6
45 vaginitis 11.6
46 al-raqad syndrome 11.6
47 apocrine adenocarcinoma 11.5
48 immunodeficiency 27a 11.5
49 polycystic kidney disease 4 with or without polycystic liver disease 11.5
50 axenfeld-rieger syndrome 11.5

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



Diseases related to Androgen Insensitivity Syndrome

Symptoms & Phenotypes for Androgen Insensitivity Syndrome

Human phenotypes related to Androgen Insensitivity Syndrome:

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

Symptoms via clinical synopsis from OMIM:

58
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)

Genitourinary Internal Genitalia Male:
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

MGI Mouse Phenotypes related to Androgen Insensitivity Syndrome:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 endocrine/exocrine gland MP:0005379 9.43 AR CGA NCOA2 NR1H2 NR5A1 SRD5A2
2 reproductive system MP:0005389 9.1 AR CGA NCOA2 NR1H2 NR5A1 SRD5A2

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 30 AR

Anatomical Context for Androgen Insensitivity Syndrome

MalaCards organs/tissues related to Androgen Insensitivity Syndrome:

42
Breast, Bone, Heart, Brain, Skin, Kidney, Thyroid

Publications for Androgen Insensitivity Syndrome

Articles related to Androgen Insensitivity Syndrome:

(show top 50) (show all 529)
# Title Authors Year
1
Severe forms of complete androgen insensitivity syndrome caused by a p.Q65X novel mutation in androgen receptor: Clinical manifestations, imaging findings and molecular genetics. ( 30742848 )
2019
2
Laparoscopic Bilateral Gonadectomy and Inguinal Hernia Repair with Mesh for Complete Androgen Insensitivity Syndrome: A Case Report. ( 30825542 )
2019
3
Partial androgen insensitivity syndrome in a 68-year-old patient. ( 30918167 )
2019
4
Complete Androgen Insensitivity Syndrome: Successful Laparoscopic Management. ( 30956493 )
2019
5
A novel missense mutation in the androgen receptor gene causes the complete androgen insensitivity syndrome. ( 30964356 )
2019
6
Different Clinical Presentations and Management in Complete Androgen Insensitivity Syndrome (CAIS). ( 30970592 )
2019
7
Gonadal Tissue Cryopreservation for a Girl With Partial Androgen Insensitivity Syndrome. ( 31008422 )
2019
8
Genetic Analysis Reveals Complete Androgen Insensitivity Syndrome in Female Children Surgically Treated for Inguinal Hernia. ( 31012339 )
2019
9
Androgen Insensitivity Syndrome: Clinical Phenotype and Molecular Analysis in a Single Tertiary Center Cohort ( 30251955 )
2019
10
New mutation causing androgen insensitivity syndrome - a case report and review of literature. ( 30449224 )
2019
11
Efficient base editing in G/C-rich regions to model androgen insensitivity syndrome. ( 30607018 )
2019
12
Postnatal germ cell development during first 18 months of life in testes from boys with non-syndromic cryptorchidism and complete or partial androgen insensitivity syndrome. ( 30739749 )
2019
13
Mental Health and Disorders of Sex Development/Intersex Conditions in Iranian Culture: Congenital Adrenal Hyperplasia, 5-α Reductase Deficiency-Type 2, and Complete Androgen Insensitivity Syndrome. ( 29294229 )
2018
14
A rare polypyrimidine tract mutation in the androgen receptor gene results in complete androgen insensitivity syndrome. ( 28857053 )
2018
15
Mismatch between fetal sexing and birth phenotype: a case of complete androgen insensitivity syndrome. ( 29118296 )
2018
16
Partial androgen insensitivity syndrome due to somatic mosaicism of the androgen receptor. ( 29267169 )
2018
17
Aberrant breast tissue in complete androgen insensitivity syndrome. ( 29388223 )
2018
18
Partial androgen insensitivity syndrome caused by a deep intronic mutation creating an alternative splice acceptor site of the AR gene. ( 29396419 )
2018
19
Identification of 4 novel mutations of androgen receptor gene in 8 Chinese families with complete androgen insensitivity syndrome. ( 29693241 )
2018
20
Androgen insensitivity syndrome: a review. ( 29768628 )
2018
21
Phenotypic and molecular characteristics of androgen insensitivity syndrome patients. ( 29785970 )
2018
22
Complete androgen insensitivity syndrome caused by c.1769-1G > C mutation and activation of a cryptic splice acceptor site in the androgen receptor gene. ( 29859233 )
2018
23
Cognitive abilities in women with complete androgen insensitivity syndrome and women with gonadal dysgenesis. ( 29884451 )
2018
24
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
25
Androgen insensitivity syndrome. ( 29949163 )
2018
26
Functional and Structural Study of the Amino Acid Substitution in a Novel Familial Androgen Receptor Mutation (W752G) Responsible for Complete Androgen Insensitivity Syndrome. ( 30064134 )
2018
27
Oestrogen versus androgen in hormone-replacement therapy for complete androgen insensitivity syndrome: a multicentre, randomised, double-dummy, double-blind crossover trial. ( 30075954 )
2018
28
Complete androgen insensitivity syndrome in a young woman with metabolic disorder and diabetes: A case report. ( 30113450 )
2018
29
Epigenetic Repression of Androgen Receptor Transcription in Mutation-Negative Androgen Insensitivity Syndrome (AIS Type II). ( 30124873 )
2018
30
Complete Androgen Insensitivity Syndrome due to Mutations in the DNA-Binding Domain of the Human Androgen Receptor Gene. ( 30165367 )
2018
31
Predicting puberty in partial androgen insensitivity syndrome: Use of clinical and functional androgen receptor indices. ( 30316867 )
2018
32
Long-term healthcare of people with disorders of sex development: Predictors of pubertal outcomes of partial androgen insensitivity syndrome. ( 30337249 )
2018
33
Living with permanent infertility: A German study on attitudes toward motherhood in individuals with Complete Androgen Insensitivity Syndrome (CAIS) and Mayer-Rokitansky-Küster-Hauser Syndrome (MRKHS). ( 30362901 )
2018
34
Long-term Healthcare of People with Disorders of Sex Development: Predictors of Pubertal Outcomes of Partial Androgen Insensitivity Syndrome - Authors' Reply. ( 30385230 )
2018
35
Late diagnosis of complete androgen insensitivity syndrome and transmission/carriers of the disease in a family with mutation c.2495G>T p.(Arg832Leu) in exon 7 of the androgen receptor gene: genetic, clinical and ethical aspects. ( 30401990 )
2018
36
Uterus Transplantation in patients with Complete Androgen Insensitivity Syndrome (CAIS): why CAIS cannot be considered as an indication in France. ( 30553052 )
2018
37
Two Korean girls with complete androgen insensitivity syndrome diagnosed in infancy. ( 30599484 )
2018
38
Partial androgen insensitivity syndrome presenting as pubertal gynecomastia: clinical and hormonal findings and a novel mutation in the androgen receptor gene. ( 30601762 )
2018
39
Novel Variant of the Androgen Receptor Gene in a Patient With Complete Androgen Insensitivity Syndrome and Polyorchidism. ( 30705665 )
2018
40
Androgen receptor deficiency in monocytes/macrophages does not alter adiposity or glucose homeostasis in male mice. ( 29205180 )
2018
41
Heterozygous Nonsense Mutation in the Androgen Receptor Gene Associated with Partial Androgen Insensitivity Syndrome in an Individual with 47,XXY Karyotype. ( 28456808 )
2017
42
A missense mutation in the androgen receptor gene causing androgen insensitivity syndrome in a Chinese family. ( 26806084 )
2017
43
Sexual orientation and medical history among Iranian people with Complete Androgen Insensitivity Syndrome and Congenital Adrenal Hyperplasia. ( 27998513 )
2017
44
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
45
Frequency of gonadal tumours in complete androgen insensitivity syndrome (CAIS): A retrospective case-series analysis. ( 28351649 )
2017
46
Psychological Aspects of Androgen Insensitivity Syndrome: Two Cases Illustrating Therapeutical Challenges. ( 28386489 )
2017
47
Bilateral Sertoli Cell Tumors in a Patient with Androgen Insensitivity Syndrome. ( 28386495 )
2017
48
Do sex differences in CEOAEs and 2D:4D ratios reflect androgen exposure? A study in women with complete androgen insensitivity syndrome. ( 28413602 )
2017
49
Bone mineral density in complete androgen insensitivity syndrome and the timing of gonadectomy. ( 28493277 )
2017
50
FDG PET/CT Image of Seminoma in Androgen Insensitivity Syndrome. ( 28604478 )
2017

Variations for Androgen Insensitivity Syndrome

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

76 (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 rs108530768
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 rs138657780
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 251)
# 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_181del (p.Gln61Alafs) deletion Pathogenic rs869320731 GRCh37 Chromosome X, 66765168: 66765169
20 AR NM_000044.4(AR): c.180_181del (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.179dup (p.Gln61Alafs) duplication Pathogenic rs759327087 GRCh37 Chromosome X, 66765167: 66765167
46 AR NM_000044.4(AR): c.179dup (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:

(show all 13)
# Name GO ID Score Top Affiliating Genes
1 regulation of transcription, DNA-templated GO:0006355 9.92 AR NCOA2 NR1H2 NR5A1 SRY
2 negative regulation of transcription by RNA polymerase II GO:0000122 9.81 AR NCOA2 NR1H2 SRY
3 positive regulation of transcription, DNA-templated GO:0045893 9.76 AR NR1H2 NR5A1 SRY
4 positive regulation of transcription by RNA polymerase II GO:0045944 9.73 AR CGA NCOA2 NR1H2 NR5A1 SRY
5 transcription initiation from RNA polymerase II promoter GO:0006367 9.58 AR NR1H2 NR5A1
6 cellular response to hormone stimulus GO:0032870 9.49 CGA NCOA2
7 intracellular receptor signaling pathway GO:0030522 9.48 AR NR5A1
8 male sex determination GO:0030238 9.37 NR5A1 SRY
9 steroid hormone mediated signaling pathway GO:0043401 9.33 AR NR1H2 NR5A1
10 positive regulation of male gonad development GO:2000020 9.32 NR5A1 SRY
11 transcription, DNA-templated GO:0006351 9.13 AR
12 sex differentiation GO:0007548 9.13 AR SRD5A2 SRY
13 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 DNA-binding transcription factor activity, RNA polymerase II-specific GO:0000981 9.8 AR NCOA2 NR1H2 NR5A1 SRY
2 transcription factor binding GO:0008134 9.62 AR NCOA2 NR1H2 SRY
3 lipid binding GO:0008289 9.56 APOD AR NR5A1 SHBG
4 steroid binding GO:0005496 9.37 AR SHBG
5 androgen binding GO:0005497 9.16 AR SHBG
6 steroid hormone receptor activity GO:0003707 9.13 AR NR1H2 NR5A1
7 nuclear receptor activity GO:0004879 8.8 AR NR1H2 NR5A1

Sources for Androgen Insensitivity Syndrome

3 CDC
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10 dbSNP
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17 EFO
18 ExPASy
20 FMA
29 GO
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31 HGMD
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