AIS
MCID: AND002
MIFTS: 66

Androgen Insensitivity Syndrome (AIS)

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

Aliases & Classifications for Androgen Insensitivity Syndrome

MalaCards integrated aliases for Androgen Insensitivity Syndrome:

Name: Androgen Insensitivity Syndrome 56 12 74 24 52 25 58 73 36 54 15
Androgen Resistance Syndrome 12 25 58 73 29 6 32
Androgen Receptor Deficiency 56 52 25 73 71
Ais 56 52 25 58 73
Dihydrotestosterone Receptor Deficiency 56 52 25 73
Testicular Feminization Syndrome 56 12 58 73
Dhtr Deficiency 56 52 25 73
Androgen-Insensitivity Syndrome 12 43 71
Testicular Feminization 12 24 71
Ar Deficiency 56 25 73
Goldberg-Maxwell Syndrome 12 58
Androgen Insensitivity 56 13
Tfm 56 73
Complete Androgen Insensitivity Syndrome 73
Testicular Feminization Syndrome; Tfm 56
Syndrome, Insensitivity, Androgen 39
Goldberg - Maxwell Syndrome 12
Androgen Insensitivity Nos 71
Feminisation - Testicular 12
Morris Syndrome 58
Cais 73
Ary 74
Ar 47

Characteristics:

Orphanet epidemiological data:

58
androgen insensitivity syndrome
Inheritance: X-linked recessive; Age of onset: Antenatal,Neonatal;

OMIM:

56
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:

31
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:

Orphanet: 58  
Rare infertility disorders
Rare gynaecological and obstetric diseases
Rare endocrine diseases
Developmental anomalies during embryogenesis


External Ids:

Disease Ontology 12 DOID:4674
OMIM 56 300068
KEGG 36 H02177
ICD9CM 34 259.51
MeSH 43 D013734
SNOMED-CT 67 12313004 52832001
ICD10 32 E34.5 E34.51
MESH via Orphanet 44 D013734
ICD10 via Orphanet 33 E34.5
UMLS via Orphanet 72 C0039585 C0936016
Orphanet 58 ORPHA754
MedGen 41 C0039585
UMLS 71 C0039585 C0936016 C2713546 more

Summaries for Androgen Insensitivity Syndrome

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. Complete androgen insensitivity syndrome occurs when the body cannot use androgens at all. People with this form of the condition have the external sex characteristics of females, but do not have a uterus and therefore do not menstruate and are unable to conceive a child (infertile). They are typically raised as females and have a female gender identity. Affected individuals have male internal sex organs (testes) that are undescended, which means they are abnormally located in the pelvis or abdomen. Undescended testes have a small chance of becoming cancerous later in life if they are not surgically removed. People with complete androgen insensitivity syndrome also have sparse or absent hair in the pubic area and under the arms. The partial and mild forms of androgen insensitivity syndrome result when the body's tissues are partially sensitive to the effects of androgens. People with partial androgen insensitivity (also called Reifenstein syndrome) can have genitalia that look typically female, genitalia that have both male and female characteristics, or genitalia that look typically male. They may be raised as males or as females and may have a male or a female gender identity. People with mild androgen insensitivity are born with male sex characteristics, but they are often infertile and tend to experience breast enlargement at puberty.

MalaCards based summary : Androgen Insensitivity Syndrome, also known as androgen resistance syndrome, is related to androgen insensitivity, partial and varicocele. An important gene associated with Androgen Insensitivity Syndrome is AR (Androgen Receptor), and among its related pathways/superpathways are Translation Non-genomic (rapid) action of Androgen Receptor and Nuclear Receptor transcription pathway. The drugs Anesthetics and Fibrin Tissue Adhesive have been mentioned in the context of this disorder. Affiliated tissues include testes, uterus and breast, 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.

NIH Rare Diseases : 52 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.

OMIM : 56 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)

KEGG : 36 Androgen insensitivity syndrome (AIS) is typically characterized by evidence of feminization of the external genitalia at birth, abnormal secondary sexual development in puberty, and infertility in individuals with a 46,XY karyotype. AIS represents a spectrum of defects in androgen action. Pathogenesis is the result of mutations in the X-linked androgen receptor (AR) gene, which encodes for the ligand-activated androgen receptor.

UniProtKB/Swiss-Prot : 73 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 : 74 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 9017)
# Related Disease Score Top Affiliating Genes
1 androgen insensitivity, partial 34.1 SRD5A1 SHBG LYVE1 AR
2 varicocele 32.9 SHBG CGA AR
3 asperger syndrome 32.9 IGF2 CGA AR
4 complete androgen insensitivity syndrome 32.8 SRY SHBG PTGDS NR1H2 MUC5AC MUC1
5 paget disease, extramammary 32.6 MUC5AC MUC1 AR
6 apocrine adenocarcinoma 32.5 MUC1 AR
7 sebaceous gland disease 32.4 SHBG INS AR
8 posterior hypospadias 32.3 MAMLD1 AR
9 hyperandrogenism 32.2 SRD5A1 SHBG INS IGF2 AR
10 hair disease 32.1 SRD5A2 SHBG INS AR
11 ductal carcinoma in situ 32.0 MUC1 AR ALDH1A1
12 spermatogenic failure 8 31.9 NR5A1 AR
13 amenorrhea 31.5 SHBG NR5A1 INS
14 adrenal cortical carcinoma 31.5 NR5A1 MUC1 IGF2
15 hyperprolactinemia 31.4 SHBG INS CGA
16 luteoma 31.3 SHBG CGA
17 hyperproinsulinemia 31.3 SHBG INS
18 persistent mullerian duct syndrome 31.3 SRD5A2 NR5A1 HSD17B3
19 ovarian hyperstimulation syndrome 31.2 SHBG INS CGA
20 marasmus 31.2 SHBG INS
21 limbal stem cell deficiency 31.1 MUC5AC MUC1
22 gonadal dysgenesis 31.1 SRY SHBG NR5A1
23 cortisone reductase deficiency 30.9 SRD5A2 SRD5A1 HSD17B3
24 adrenal gland disease 30.8 NR5A1 INS IGF2
25 male infertility 30.8 SRY SHBG NR5A1 AR
26 infertility 30.7 SHBG NR5A1 CGA AR
27 sertoli cell tumor 30.7 NR5A1 MUC1 AR
28 potter's syndrome 30.7 INS IGF2
29 dendritic cell tumor 30.6 NCOA2 MUC1
30 appendix cancer 30.6 MUC5AC MUC1
31 sexual disorder 30.5 SHBG INS AR
32 transsexualism 30.5 SRD5A2 AR
33 hermaphroditism 30.4 SRY SRD5A2 SHBG CGA AR
34 alopecia 30.4 SRD5A2 SRD5A1 SHBG AR
35 mixed gonadal dysgenesis 30.3 SRY SRD5A1 NR5A1
36 pseudovaginal perineoscrotal hypospadias 30.3 SRD5A2 SRD5A1 CGA AR
37 testicular cancer 30.2 SHBG CGA AR
38 pseudohermaphroditism 30.2 SRY SRD5A2 SRD5A1 NR5A1 HSD17B3 AR
39 hypogonadotropic hypogonadism 30.2 SHBG NR5A1 INS AR
40 alopecia, androgenetic, 1 30.1 SRD5A2 SRD5A1 SHBG AR
41 leydig cell hypoplasia 30.1 HSD17B3 CGA
42 prostatic hyperplasia, benign 30.1 SRD5A2 SRD5A1 SHBG AR
43 prostatic hypertrophy 30.1 SRD5A2 SRD5A1 SHBG AR
44 hypospadias 30.0 SRY SRD5A2 SRD5A1 NR5A1 MAMLD1 HSD17B3
45 disorders of sexual development 30.0 SRD5A2 SHBG NR5A1 INS HSD17B3 AR
46 impotence 30.0 SRD5A1 SHBG INS AR
47 hyperthyroidism 29.9 SHBG INS CGA
48 wilms tumor 1 29.9 SRY NR5A1 IGF2 AR
49 placenta disease 29.9 INS IGF2 CGA
50 kallmann syndrome 29.9 SRD5A2 SHBG NR5A1 CGA

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:

58 31 (show all 25)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 delayed puberty 58 31 hallmark (90%) Very frequent (99-80%) HP:0000823
2 cryptorchidism 58 31 hallmark (90%) Very frequent (99-80%) HP:0000028
3 male pseudohermaphroditism 58 31 hallmark (90%) Very frequent (99-80%) HP:0000037
4 ambiguous genitalia, male 58 31 hallmark (90%) Very frequent (99-80%) HP:0000033
5 sparse axillary hair 58 31 hallmark (90%) Very frequent (99-80%) HP:0002215
6 absent axillary hair 58 31 hallmark (90%) Very frequent (99-80%) HP:0002221
7 sparse pubic hair 58 31 hallmark (90%) Very frequent (99-80%) HP:0002225
8 absent pubic hair 58 31 hallmark (90%) Very frequent (99-80%) HP:0002555
9 male infertility 58 31 hallmark (90%) Very frequent (99-80%) HP:0003251
10 aplasia/hypoplasia of the fallopian tube 58 31 hallmark (90%) Very frequent (99-80%) HP:0008655
11 aplasia/hypoplasia of the uterus 58 31 hallmark (90%) Very frequent (99-80%) HP:0008684
12 inguinal hernia 58 31 frequent (33%) Frequent (79-30%) HP:0000023
13 testicular neoplasm 58 31 occasional (7.5%) Occasional (29-5%) HP:0010788
14 primary amenorrhea 31 HP:0000786
15 neoplasm 31 HP:0002664
16 abnormality of female internal genitalia 58 Very frequent (99-80%)
17 labial hypoplasia 31 HP:0000066
18 abnormality of the uterus 58 Very frequent (99-80%)
19 gynecomastia 31 HP:0000771
20 elevated circulating follicle stimulating hormone level 31 HP:0008232
21 female external genitalia in individual with 46,xy karyotype 31 HP:0008730
22 elevated circulating luteinizing hormone level 31 HP:0011969
23 absent facial hair 31 HP:0002550
24 blind vagina 31 HP:0040314
25 growth abnormality 31 HP:0001507

Symptoms via clinical synopsis from OMIM:

56
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 Height:
tall for females (mean height 171.5cm)

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

Chest Breasts:
gynecomastia

Genitourinary Internal Genitalia Male:
blind vagina
abdominal, inguinal, or labial testes

Growth Other:
female body habitus
female body fat distribution

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:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 endocrine/exocrine gland MP:0005379 9.73 ALDH1A1 AR CGA IGF2 INS NCOA2
2 reproductive system MP:0005389 9.32 AR CGA IGF2 INS NCOA2 NR1H2

Drugs & Therapeutics for Androgen Insensitivity Syndrome

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

(show all 28)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Anesthetics Phase 4
2 Fibrin Tissue Adhesive Phase 3
3
Prednisolone phosphate Approved, Vet_approved Phase 2 302-25-0
4
Methylprednisolone Approved, Vet_approved Phase 2 83-43-2 6741
5
Methylprednisolone hemisuccinate Approved Phase 2 2921-57-5
6
Leuprolide Approved, Investigational Phase 2 53714-56-0 657181 3911
7
Prednisolone Approved, Vet_approved Phase 2 50-24-8 5755
8 Prednisolone acetate Approved, Vet_approved Phase 2 52-21-1
9
Docetaxel Approved, Investigational Phase 2 114977-28-5 148124
10
Ethanol Approved Phase 2 64-17-5 702
11
Clotrimazole Approved, Vet_approved Phase 1, Phase 2 23593-75-1 2812
12
Miconazole Approved, Investigational, Vet_approved Phase 1, Phase 2 22916-47-8 4189
13
Sirolimus Approved, Investigational Phase 1, Phase 2 53123-88-9 5284616 6436030 46835353
14
Bicalutamide Approved Phase 1, Phase 2 90357-06-5 2375 56069
15
Prednisolone hemisuccinate Experimental Phase 2 2920-86-7
16 Methylprednisolone Acetate Phase 2
17 Anticonvulsants Phase 2
18 Anti-Infective Agents Phase 1, Phase 2
19 Immunologic Factors Phase 1, Phase 2
20 Hormones Phase 1, Phase 2
21 Androgen Antagonists Phase 1, Phase 2
22 Hormone Antagonists Phase 1, Phase 2
23 Androgens Phase 1, Phase 2
24 Anti-Bacterial Agents Phase 1, Phase 2
25 Immunosuppressive Agents Phase 1, Phase 2
26 Antifungal Agents Phase 1, Phase 2
27 Antibiotics, Antitubercular Phase 1, Phase 2
28 Anti-Infective Agents, Local Phase 1

Interventional clinical trials:

(show all 11)
# Name Status NCT ID Phase Drugs
1 One-abutment One-time for Immediate Restoration Procedure in the Esthetic Zone: A Randomized Controlled Trial Comparing Conventional Versus Full Digital Workflow Completed NCT04139512 Phase 4
2 A Randomised Clinical Trial Comparing a Novel Single-stage Autologous Cartilage Implantation System to Conventional Microfracture for Repair of Articular Cartilage Defects in the Knee Unknown status NCT01498029 Phase 3
3 Randomized Phase II Screening Trial of Docetaxel Plus Prednisolone With or Without Androgen Deprivation Treatment in Castrate-Resistant Prostatic Cancer Unknown status NCT01487902 Phase 2 ADT;No ADT
4 Rapid Determination Of The Clinical Utility Of Perampanel For The Treatment Of Alcohol Dependence Active, not recruiting NCT02120365 Phase 2 Perampanel;Placebo
5 Temsirolimus, an mTOR Inhibitor, to Reverse Androgen Insensitivity in Patients With Castration-resistant Prostate Cancer Terminated NCT01020305 Phase 1, Phase 2 Temsirolimus;Casodex (bicalutamide)
6 Nicotinic Receptor Genetic Variation and Alcohol Reward Recruiting NCT03294460 Phase 1 Alcohol (Oral);Alcohol (IV);Alcohol (Ethanol)
7 Project 4: Acute Effects of Alcohol on Learning and Habitization in Healthy Young Adults Completed NCT01858818
8 VoiceS: Voice Quality After Transoral CO2-Laser Surgery Versus Single Vocal Cord Irradiation for Unilateral Stage 0 & I Glottic Larynx Cancer - A Randomized Phase III Trial Recruiting NCT04057209
9 Retrospective Observational Study Determining the Clinical Effectiveness of Whole Genome and Transcriptome Analysis to Guide Advanced Cancer Care Active, not recruiting NCT04141397
10 Growing up With the Young Endocrine Support System (YESS!): Innovative E-technology to Improve Transition From Paediatric to Adult Care Not yet recruiting NCT04252001
11 A Multicenter, Randomized, Pivotal Study to Evaluate the Safety and Efficacy of the Cartilage Autograft Implantation System (CAIS) for the Surgical Treatment of Articular Cartilage Lesions of the Knee Terminated NCT00881023

Search 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

Anatomical Context for Androgen Insensitivity Syndrome

MalaCards organs/tissues related to Androgen Insensitivity Syndrome:

40
Testes, Uterus, Breast, Prostate, Skin, Bone, Testis

Publications for Androgen Insensitivity Syndrome

Articles related to Androgen Insensitivity Syndrome:

(show top 50) (show all 1137)
# Title Authors PMID Year
1
Genotype versus phenotype in families with androgen insensitivity syndrome. 24 56 6 54 61
11549642 2001
2
Androgen insensitivity with mental retardation: a contiguous gene syndrome? 61 54 56 24
9039995 1997
3
Postnatal changes of T, LH, and FSH in 46,XY infants with mutations in the AR gene. 24 56 54
11788616 2002
4
Mosaicism due to a somatic mutation of the androgen receptor gene determines phenotype in androgen insensitivity syndrome. 24 6 61
9360511 1997
5
Complete androgen insensitivity syndrome caused by a novel mutation in the ligand-binding domain of the androgen receptor: functional characterization. 6 54 61
12213902 2002
6
Two de novo mutations in the AR gene cause the complete androgen insensitivity syndrome in a pair of monozygotic twins. 6 54 61
11889162 2002
7
Male fertility is compatible with an Arg(840)Cys substitution in the AR in a large Chinese family affected with divergent phenotypes of AR insensitivity syndrome. 54 6 61
11788673 2002
8
Androgen insensitivity syndrome due to new mutations in the DNA-binding domain of the androgen receptor. 54 61 6
8809734 1996
9
A single amino acid substitution (gly743 --> val) in the steroid-binding domain of the human androgen receptor leads to Reifenstein syndrome. 61 54 6
8325932 1993
10
Apolipoprotein D (APOD) is a putative biomarker of androgen receptor function in androgen insensitivity syndrome. 24 61 54
19330472 2009
11
Prenatal diagnosis of androgen insensitivity syndrome. 24 54 61
19844078 2009
12
Detailed functional studies on androgen receptor mild mutations demonstrate their association with male infertility. 24 61 54
17970778 2008
13
Molecular pathology of the androgen receptor in male (in)fertility. 61 54 24
15705293 2005
14
Androgen insensitivity syndrome: somatic mosaicism of the androgen receptor in seven families and consequences for sex assignment and genetic counseling. 24 61 54
15522944 2005
15
Bridging structural biology and genetics by computational methods: an investigation into how the R774C mutation in the AR gene can result in complete androgen insensitivity syndrome. 24 61 54
14635106 2003
16
Complete androgen insensitivity syndrome due to X chromosome inversion: a clinical report. 61 56
12838569 2003
17
Pathophysiology of androgen insensitivity syndromes: molecular and structural approaches of natural and engineered androgen receptor mutations at amino acid 743. 6 54
12466388 2002
18
A G577R mutation in the human AR P box results in selective decreases in DNA binding and in partial androgen insensitivity syndrome. 61 6
11579211 2001
19
Decreased expression of IGF-II and its binding protein, IGF-binding protein-2, in genital skin fibroblasts of patients with complete androgen insensitivity syndrome compared with normally virilized males. 56 61
11600534 2001
20
A unique exonic splicing mutation in the human androgen receptor gene indicates a physiologic relevance of regular androgen receptor transcript variants. 6 61
11397856 2001
21
Phenotypic diversity and testosterone-induced normalization of mutant L712F androgen receptor function in a kindred with androgen insensitivity. 61 56
10999816 2000
22
Androgen-insensitivity syndrome as a possible coactivator disease. 61 56
10995865 2000
23
Complete androgen insensitivity syndrome: long-term medical, surgical, and psychosexual outcome. 56 61
10946863 2000
24
A novel mutation in the CAG triplet region of exon 1 of androgen receptor gene causes complete androgen insensitivity syndrome in a large kindred. 61 6
10323385 1999
25
Significance of the CAG repeat length in the androgen receptor gene (AR) for the transactivation function of an M780I mutant AR. 54 6
10323251 1999
26
Androgen Insensitivity Syndrome 6 61
20301602 1999
27
Clinical and biochemical investigations and molecular analysis of subjects with mutations in the androgen receptor gene. 54 61 24
9039340 1996
28
A novel missense mutation in the amino-terminal domain of the human androgen receptor gene in a family with partial androgen insensitivity syndrome causes reduced efficiency of protein translation. 61 54 24
8823308 1996
29
Leu-676-Pro mutation of the androgen receptor causes complete androgen insensitivity syndrome in a large Hutterite kindred. 6 61
7537149 1995
30
Related individuals with different androgen receptor gene deletions. 61 6
8450042 1993
31
Complete androgen insensitivity syndrome associated with a de novo mutation of the androgen receptor gene detected by single strand conformation polymorphism. 6 61
8096390 1993
32
Androgen receptor gene mutations identified by SSCP in fourteen subjects with androgen insensitivity syndrome. 6 61
1307250 1992
33
A single amino acid substitution (Met786----Val) in the steroid-binding domain of human androgen receptor leads to complete androgen insensitivity syndrome. 61 6
1569163 1992
34
Sequence of the intron/exon junctions of the coding region of the human androgen receptor gene and identification of a point mutation in a family with complete androgen insensitivity. 61 6
2594783 1989
35
Deletion of the steroid-binding domain of the human androgen receptor gene in one family with complete androgen insensitivity syndrome: evidence for further genetic heterogeneity in this syndrome. 6 61
3186717 1988
36
Complete androgen insensitivity syndrome characterized by increased concentration of a normal androgen receptor in genital skin fibroblasts. 61 56
3088020 1986
37
Timing of Gonadectomy in Patients with Complete Androgen Insensitivity Syndrome-Current Recommendations and Future Directions. 61 24
26428189 2016
38
Topical dihydrotestosterone to treat micropenis secondary to partial androgen insensitivity syndrome (PAIS) before, during, and after puberty - a case series. 24 61
26352087 2016
39
Gender Role, Gender Identity and Sexual Orientation in CAIS ("XY-Women") Compared With Subfertile and Infertile 46,XX Women. 24 61
26133743 2016
40
Gonadal malignancy in 202 female patients with disorders of sex development containing Y-chromosome material. 61 24
26608236 2016
41
Androgen insensitivity syndrome. 61 24
26303084 2015
42
Screening for mutations in 17β-hydroxysteroid dehydrogenase and androgen receptor in women presenting with partially virilised 46,XY disorders of sex development. 24 61
25740850 2015
43
Androgen Insensitivity Syndrome: Management Considerations from Infancy to Adulthood. 61 24
26182482 2015
44
Complete androgen insensitivity syndrome associated with male gender identity or female precocious puberty in the same family. 61 24
25633053 2015
45
Prenatal diagnosis of androgen insensitivity syndrome using cell-free fetal DNA testing. 24 61
25291542 2015
46
Comparison of improved laparoscopic peritoneal vaginoplasty and gasless laparoscopic ileal vaginoplasty in treatment of androgen insensitivity syndrome. 61 24
24838288 2014
47
Changes over time in sex assignment for disorders of sex development. 24 61
25092939 2014
48
Increased risk of gonadal malignancy and prophylactic gonadectomy: a study of 102 phenotypic female patients with Y chromosome or Y-derived sequences. 24 61
24826988 2014
49
Long-term outcomes of vaginoplasty with autologous buccal micromucosa. 61 24
24785845 2014
50
Low frequency of androgen receptor gene mutations in 46 XY DSD, and fetal growth restriction. 61 24
24366239 2014

Variations for Androgen Insensitivity Syndrome

ClinVar genetic disease variations for Androgen Insensitivity Syndrome:

6 (show top 50) (show all 157) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 AR NM_000044.6(AR):c.1846C>T (p.Arg616Cys)SNV Pathogenic 434266 rs1555990485 X:66905929-66905929 X:67686087-67686087
2 AR NC_000023.11:g.(?_67686010)_(67686126_?)deldeletion Pathogenic 464783 X:66905852-66905968 X:67686010-67686126
3 AR NM_000044.6(AR):c.292C>T (p.Gln98Ter)SNV Pathogenic 464802 rs1555969553 X:66765280-66765280 X:67545438-67545438
4 AR NM_000044.6(AR):c.2296G>A (p.Ala766Thr)SNV Pathogenic 458363 rs1555996863 X:66937442-66937442 X:67717600-67717600
5 AR NM_000044.6(AR):c.268C>T (p.Gln90Ter)SNV Pathogenic 458365 rs1555969545 X:66765256-66765256 X:67545414-67545414
6 AR NM_000044.6(AR):c.2176T>C (p.Phe726Leu)SNV Pathogenic 458362 rs1555996810 X:66937322-66937322 X:67717480-67717480
7 AR NM_000044.6(AR):c.2359C>T (p.Arg787Ter)SNV Pathogenic 458364 rs1555997580 X:66941715-66941715 X:67721873-67721873
8 AR NM_000044.6(AR):c.2495G>A (p.Arg832Gln)SNV Pathogenic 458366 rs1386577803 X:66942714-66942714 X:67722872-67722872
9 AR NM_000044.6(AR):c.2266del (p.Thr756fs)deletion Pathogenic 492793 rs1555996855 X:66937412-66937412 X:67717570-67717570
10 AR NM_000044.6(AR):c.2613del (p.Arg872fs)deletion Pathogenic 492802 rs1555998085 X:66943533-66943533 X:67723691-67723691
11 AR NM_000044.6(AR):c.214C>T (p.Gln72Ter)SNV Pathogenic 492775 rs1555969512 X:66765202-66765202 X:67545360-67545360
12 AR NM_000044.6(AR):c.217C>T (p.Gln73Ter)SNV Pathogenic 492776 rs1199988820 X:66765205-66765205 X:67545363-67545363
13 AR NM_000044.6(AR):c.475G>A (p.Ala159Thr)SNV Pathogenic 492777 rs370215797 X:66765463-66765463 X:67545621-67545621
14 AR NM_000044.6(AR):c.743G>T (p.Gly248Val)SNV Pathogenic 492778 rs1555969682 X:66765731-66765731 X:67545889-67545889
15 AR NM_000044.6(AR):c.796dup (p.Asp266fs)duplication Pathogenic 492779 rs1555969694 X:66765778-66765779 X:67545936-67545937
16 AR NM_000044.6(AR):c.1440dup (p.Tyr481fs)duplication Pathogenic 464787 rs1555970004 X:66766423-66766424 X:67546581-67546582
17 AR NM_000044.6(AR):c.1443C>G (p.Tyr481Ter)SNV Pathogenic 458358 rs766161615 X:66766431-66766431 X:67546589-67546589
18 AR NM_000044.6(AR):c.1185C>A (p.Tyr395Ter)SNV Pathogenic 492781 rs1555969807 X:66766173-66766173 X:67546331-67546331
19 AR NM_000044.6(AR):c.1688G>A (p.Cys563Tyr)SNV Pathogenic 492782 rs1555982860 X:66863169-66863169 X:67643327-67643327
20 AR NM_000044.6(AR):c.1739G>A (p.Cys580Tyr)SNV Pathogenic 492783 rs137852586 X:66863220-66863220 X:67643378-67643378
21 AR NM_000044.6(AR):c.1888del (p.Arg630fs)deletion Pathogenic 492785 rs1555995750 X:66931244-66931244 X:67711402-67711402
22 AR NM_000044.6(AR):c.2044G>A (p.Glu682Lys)SNV Pathogenic 492786 rs1555995816 X:66931402-66931402 X:67711560-67711560
23 AR NM_000044.6(AR):c.2086G>A (p.Asp696Asn)SNV Pathogenic 492787 rs1555995840 X:66931444-66931444 X:67711602-67711602
24 AR NM_000044.6(AR):c.2104C>T (p.Leu702Phe)SNV Pathogenic 492788 rs1555995851 X:66931462-66931462 X:67711620-67711620
25 AR NM_000044.6(AR):c.2117A>G (p.Asn706Ser)SNV Pathogenic 492789 rs925822435 X:66931475-66931475 X:67711633-67711633
26 AR NM_000044.6(AR):c.2155T>C (p.Trp719Arg)SNV Pathogenic 492790 rs1555995865 X:66931513-66931513 X:67711671-67711671
27 AR NM_000044.6(AR):c.2171C>T (p.Pro724Leu)SNV Pathogenic 492791 rs1555995877 X:66931529-66931529 X:67711687-67711687
28 AR NM_000044.6(AR):c.2258G>A (p.Arg753Gln)SNV Pathogenic 492792 rs1057523747 X:66937404-66937404 X:67717562-67717562
29 AR NM_000044.6(AR):c.2299C>G (p.Pro767Ala)SNV Pathogenic 492794 rs1555996867 X:66937445-66937445 X:67717603-67717603
30 AR NM_000044.6(AR):c.321C>A (p.Tyr107Ter)SNV Pathogenic 458367 rs1481151440 X:66765309-66765309 X:67545467-67545467
31 AR NM_000044.6(AR):c.749dup (p.Val251fs)duplication Pathogenic 464803 rs1555969684 X:66765734-66765735 X:67545892-67545893
32 AR NM_000044.6(AR):c.2343G>A (p.Met781Ile)SNV Pathogenic 492796 rs137852589 X:66941699-66941699 X:67721857-67721857
33 AR NM_000044.6(AR):c.2562_2563del (p.Arg855fs)deletion Pathogenic 492799 rs1555997799 X:66942781-66942782 X:67722939-67722940
34 AR NM_000044.6(AR):c.2593G>A (p.Asp865Asn)SNV Pathogenic 492800 rs1555997810 X:66942812-66942812 X:67722970-67722970
35 AR NM_000044.6(AR):c.2612C>T (p.Ala871Val)SNV Pathogenic 492801 rs143040492 X:66943532-66943532 X:67723690-67723690
36 AR NM_000044.6(AR):c.2450-6C>GSNV Pathogenic 548144 rs754515125 X:66942663-66942663 X:67722821-67722821
37 AR NM_000044.6(AR):c.1451_1454del (p.Thr484fs)deletion Pathogenic 578606 rs1569265331 X:66766439-66766442 X:67546597-67546600
38 AR NM_000044.6(AR):c.1614dup (p.Arg539fs)duplication Pathogenic 578903 rs1569265470 X:66766601-66766602 X:67546759-67546760
39 AR NM_000044.6(AR):c.2318+1G>CSNV Pathogenic 580553 rs1569314508 X:66937465-66937465 X:67717623-67717623
40 AR NM_000044.6(AR):c.195_199delinsTT (p.Gln65_Gln67delinsHisTer)indel Pathogenic 581270 rs1569263557 X:66765183-66765187 X:67545341-67545345
41 AR NM_000044.6(AR):c.271C>T (p.Gln91Ter)SNV Pathogenic 575053 rs112374098 X:66765259-66765259 X:67545417-67545417
42 AR NM_000044.6(AR):c.830_845dup (p.Pro283fs)duplication Pathogenic 577402 rs1569264288 X:66765813-66765814 X:67545971-67545972
43 AR NM_000044.6(AR):c.2683_2685ATG[1] (p.Met896del)short repeat Pathogenic 492804 rs1555998102 X:66943603-66943605 X:67723761-67723763
44 AR NM_000044.6(AR):c.2720_2721del (p.Ile907fs)deletion Pathogenic 492805 rs1555998114 X:66943640-66943641 X:67723798-67723799
45 AR NM_000044.6(AR):c.174_175insTAG (p.Gln59Ter)insertion Pathogenic 643319 X:66765160-66765161 X:67545318-67545319
46 AR NM_000044.6(AR):c.756_765del (p.Glu252fs)deletion Pathogenic 644458 X:66765744-66765753 X:67545902-67545911
47 AR NM_000044.6(AR):c.1310_1311CT[2] (p.Phe439fs)short repeat Pathogenic 646425 X:66766298-66766299 X:67546456-67546457
48 AR NM_000044.6(AR):c.1722_1723TC[1] (p.Leu575fs)short repeat Pathogenic 658929 X:66863202-66863203 X:67643360-67643361
49 AR NM_000044.6(AR):c.1897A>T (p.Lys633Ter)SNV Pathogenic 650823 X:66931255-66931255 X:67711413-67711413
50 AR NM_000044.6(AR):c.2528T>C (p.Ile843Thr)SNV Pathogenic 658124 X:66942747-66942747 X:67722905-67722905

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

73 (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 rs155599584
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 rs155599686
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 rs155599781
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

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

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

# Name GO ID Score Top Affiliating Genes
1 nuclear chromatin GO:0000790 9.63 SRY NR5A1 NR1H2 NCOA2 MUC1 AR
2 extracellular region GO:0005576 9.61 SHBG S100A6 PTGDS MUC5AC MUC1 INS
3 Golgi lumen GO:0005796 8.92 MUC5AC MUC1 INS CGA

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

(show all 18)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of transcription by RNA polymerase II GO:0045944 10.05 SRY NR5A1 NR1H2 NCOA2 IGF2 CGA
2 positive regulation of gene expression GO:0010628 9.93 SRY NR5A1 NR1H2 INS AR
3 lipid metabolic process GO:0006629 9.8 SRD5A2 SRD5A1 PTGDS NR1H2 HSD17B3 APOD
4 steroid biosynthetic process GO:0006694 9.67 SRD5A2 SRD5A1 HSD17B3
5 glucose metabolic process GO:0006006 9.61 INS IGF2 APOD
6 positive regulation of glycogen biosynthetic process GO:0045725 9.58 INS IGF2
7 steroid hormone mediated signaling pathway GO:0043401 9.58 NR5A1 NR1H2 AR
8 positive regulation of cellular protein metabolic process GO:0032270 9.57 NR1H2 INS
9 androgen metabolic process GO:0008209 9.56 SRD5A2 SRD5A1
10 male sex determination GO:0030238 9.55 SRY NR5A1
11 cellular response to testosterone stimulus GO:0071394 9.52 SRD5A1 AR
12 positive regulation of male gonad development GO:2000020 9.48 SRY NR5A1
13 sex determination GO:0007530 9.46 SRD5A1 NR5A1
14 sex differentiation GO:0007548 9.43 SRY SRD5A2 SRD5A1
15 testosterone biosynthetic process GO:0061370 9.37 SRD5A2 HSD17B3
16 male genitalia development GO:0030539 9.33 SRD5A2 SRD5A1 HSD17B3
17 androgen biosynthetic process GO:0006702 9.13 SRD5A2 SRD5A1 HSD17B3
18 male gonad development GO:0008584 9.02 SRD5A2 SRD5A1 NR5A1 MAMLD1 AR

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

# Name GO ID Score Top Affiliating Genes
1 lipid binding GO:0008289 9.73 SHBG NR5A1 AR APOD
2 hormone activity GO:0005179 9.58 INS IGF2 CGA
3 steroid hormone receptor activity GO:0003707 9.5 NR5A1 NR1H2 AR
4 nuclear receptor activity GO:0004879 9.43 NR5A1 NR1H2 AR
5 insulin-like growth factor receptor binding GO:0005159 9.37 INS IGF2
6 cholestenone 5-alpha-reductase activity GO:0047751 9.16 SRD5A2 SRD5A1
7 3-oxo-5-alpha-steroid 4-dehydrogenase activity GO:0003865 8.96 SRD5A2 SRD5A1
8 androgen binding GO:0005497 8.8 SHBG AR ALDH1A1

Sources for Androgen Insensitivity Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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