AIS
MCID: AND015
MIFTS: 64

Androgen Insensitivity (AIS) malady

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

Aliases & Classifications for Androgen Insensitivity

Aliases & Descriptions for Androgen Insensitivity:

Name: Androgen Insensitivity 54 13
Androgen Insensitivity Syndrome 12 71 23 50 24 25 66 52 14
Androgen Resistance Syndrome 12 24 25 66 29
Androgen Receptor Deficiency 50 24 25 66 69
Testicular Feminization 12 23 24 69
Ais 50 24 25 66
Dihydrotestosterone Receptor Deficiency 50 25 66
Testicular Feminization Syndrome 12 66 29
Androgen-Insensitivity Syndrome 12 42 69
Dhtr Deficiency 50 25 66
Reifenstein Syndrome 24 69
Ar Deficiency 25 66
Complete Androgen Insensitivity Syndrome 66
Goldberg - Maxwell Syndrome 12
Androgen Insensitivity Nos 69
Feminisation - Testicular 12
Goldberg-Maxwell Syndrome 12
Androgen Receptor 13
Cais 66
Tfm 66
Ar 45

Characteristics:

GeneReviews:

23
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

NIH Rare Diseases : 50 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, delayed puberty and neoplasm. An important gene associated with Androgen Insensitivity is AR (Androgen Receptor), and among its related pathways/superpathways are CCR5 Pathway in Macrophages and Transcription Androgen Receptor nuclear signaling. The drugs Bicalutamide and Miconazole have been mentioned in the context of this disorder. Affiliated tissues include testes, uterus and breast, and related phenotypes are endocrine/exocrine gland and nervous system

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

UniProtKB/Swiss-Prot : 66 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: NBK1429

Related Diseases for Androgen Insensitivity

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

(show top 50) (show all 167)
id Related Disease Score Top Affiliating Genes
1 hypospadias 1, x-linked 29.6 APOD AR CGA CYP19A1 LYVE1 NCOA1
2 complete androgen insensitivity syndrome 12.6
3 androgen insensitivity, partial, with or without breast cancer 12.5
4 androgen insensitivity syndrome, mild 12.1
5 familial mediterranean fever, ar 12.1
6 epidermolysis bullosa dystrophica, ar 12.0
7 hypophosphatemic rickets, ar 12.0
8 immunodeficiency 27a, mycobacteriosis, ar 11.9
9 amelogenesis imperfecta 11.7
10 autoimmune inner ear disease 11.7
11 aland island eye disease 11.5
12 adolescent idiopathic scoliosis 11.1
13 hereditary amyloidosis 11.1
14 spinal and bulbar muscular atrophy of kennedy 11.0
15 hypospadias 2, x-linked 11.0
16 pediatric arterial ischemic stroke 10.9
17 amelogenesis imperfecta, type ib 10.9
18 amish infantile epilepsy syndrome 10.7
19 amelogenesis imperfecta, type 1e 10.7
20 aortic valve insufficiency 10.7
21 prostatitis 10.4
22 prostate cancer 10.4
23 leukocyte adhesion deficiency 10.3
24 paroxysmal nocturnal hemoglobinuria, somatic 10.3
25 c8 deficiency, type i 10.3
26 c8 deficiency, type ii 10.3
27 beriberi 10.3
28 porphyria, acute intermittent 10.3
29 high molecular weight kininogen deficiency 10.3
30 polyneuropathy 10.2 CYP19A1 SHBG
31 osteogenesis imperfecta 10.2 AR CYP19A1
32 ulceroglandular tularemia 10.2 AR SHBG
33 cervical spinal canal and spinal cord meningioma 10.2 CGA CYP19A1
34 bardet-biedl syndrome 1 10.2 CGA CYP19A1
35 malignant teratocarcinosarcoma 10.2 AR CGA
36 acute thyroiditis 10.2 CYP19A1 SHBG
37 cerebritis 10.2
38 inguinal hernia 10.1
39 amyloidosis 10.1
40 8p23.1 duplication syndrome 10.1 NR5A1 SRY
41 glioblastoma mesenchymal subtype 10.1 AR CYP19A1 SHBG
42 gaucher's disease 10.1 AR CYP19A1 SHBG
43 neuronitis 10.1
44 esophagus sarcoma 10.1 AR CYP19A1 SRY
45 exocervical carcinoma 10.1 AR SHBG
46 trachea carcinoma in situ 10.1 CGA SHBG
47 epidural spinal canal meningioma 10.1 CGA CYP19A1 SHBG
48 alzheimer disease 10.1
49 breast myoepithelial neoplasm 10.1 AR CGA SHBG
50 borderline personality disorder 10.1 AR CYP19A1 SRD5A2

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



Diseases related to Androgen Insensitivity

Symptoms & Phenotypes for Androgen Insensitivity

Symptoms by clinical synopsis from OMIM:

300068

Clinical features from OMIM:

300068

Human phenotypes related to Androgen Insensitivity:

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

MGI Mouse Phenotypes related to Androgen Insensitivity:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 endocrine/exocrine gland MP:0005379 9.7 AR CGA CYP19A1 NCOA1 NR1H2 NR5A1
2 nervous system MP:0003631 9.5 APOD AR CGA CYP19A1 NCOA1 NR1H2
3 reproductive system MP:0005389 9.17 AR CGA CYP19A1 NCOA1 NR1H2 NR5A1

Drugs & Therapeutics for Androgen Insensitivity

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

(show all 24)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Bicalutamide Approved Phase 1, Phase 2 90357-06-5 56069 2375
2
Miconazole Approved, Investigational, Vet_approved Phase 1, Phase 2 22916-47-8 4189
3
Everolimus Approved Phase 1, Phase 2 159351-69-6 6442177
4
Sirolimus Approved, Investigational Phase 1, Phase 2 53123-88-9 5284616 6436030 46835353
5 Hormone Antagonists Phase 1, Phase 2
6 Androgens Phase 1, Phase 2
7 Hormones Phase 1, Phase 2
8 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 1, Phase 2
9 Androgen Antagonists Phase 1, Phase 2
10 Anti-Bacterial Agents Phase 1, Phase 2
11 Anti-Infective Agents Phase 1, Phase 2
12 Immunosuppressive Agents Phase 1, Phase 2
13 Antifungal Agents Phase 1, Phase 2
14 Antibiotics, Antitubercular Phase 1, Phase 2
15
Testosterone Approved, Investigational 58-22-0 6013
16
Methyltestosterone Approved 58-18-4 6010
17 insulin
18 Testosterone undecanoate
19 Testosterone 17 beta-cypionate
20
Testosterone enanthate 315-37-7 9416
21 Anabolic Agents
22 Estrogens
23 Insulin, Globin Zinc
24 Antineoplastic Agents, Hormonal

Interventional clinical trials:


id Name Status NCT ID Phase
1 Temsirolimus to Reverse Androgen Insensitivity for Castration-resistant Prostate Cancer Terminated NCT01020305 Phase 1, Phase 2
2 Metabolic Effects of Androgenicity in Aging Men and Women Active, not recruiting NCT00680797

Search NIH Clinical Center for Androgen Insensitivity

Cochrane evidence based reviews: androgen-insensitivity syndrome

Genetic Tests for Androgen Insensitivity

Genetic tests related to Androgen Insensitivity:

id Genetic test Affiliating Genes
1 Androgen Resistance Syndrome 29
2 Testicular Feminization 29
3 Androgen Insensitivity Syndrome 24 AR

Anatomical Context for Androgen Insensitivity

MalaCards organs/tissues related to Androgen Insensitivity:

39
Testes, Uterus, Breast, Prostate, Skin, Bone, Testis

Publications for Androgen Insensitivity

Articles related to Androgen Insensitivity:

(show top 50) (show all 532)
id Title Authors Year
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

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

66 (show top 50) (show all 109)
id 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
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:

6 (show all 48)
id 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.2157G> A (p.Trp719Ter) single nucleotide variant Pathogenic rs137852563 GRCh37 Chromosome X, 66931515: 66931515
5 AR NM_000044.4(AR): c.2599G> A (p.Val867Met) single nucleotide variant Pathogenic rs137852564 GRCh37 Chromosome X, 66942818: 66942818
6 AR NM_000044.4(AR): c.2391G> A (p.Trp797Ter) single nucleotide variant Pathogenic rs137852565 GRCh37 Chromosome X, 66941747: 66941747
7 AR NM_000044.4(AR): c.1771A> T (p.Lys591Ter) single nucleotide variant Pathogenic rs137852566 GRCh37 Chromosome X, 66905854: 66905854
8 AR NM_000044.4(AR): c.2291A> G (p.Tyr764Cys) single nucleotide variant Pathogenic rs137852567 GRCh37 Chromosome X, 66937437: 66937437
9 AR NM_000044.4(AR): c.2650A> T (p.Lys884Ter) single nucleotide variant Pathogenic rs137852568 GRCh37 Chromosome X, 66943570: 66943570
10 AR NM_000044.4(AR): c.1789G> A (p.Ala597Thr) single nucleotide variant Pathogenic rs137852569 GRCh37 Chromosome X, 66905872: 66905872
11 AR NM_000044.4(AR): c.2362A> G (p.Met788Val) single nucleotide variant Pathogenic rs137852570 GRCh37 Chromosome X, 66941718: 66941718
12 AR NM_000044.4(AR): c.180_181delGC (p.Gln61Alafs) deletion Pathogenic rs869320731 GRCh37 Chromosome X, 66765168: 66765169
13 AR NM_000044.4(AR): c.2571C> G (p.Phe857Leu) single nucleotide variant Pathogenic rs137852598 GRCh37 Chromosome X, 66942790: 66942790
14 AR NM_000044.4(AR): c.2324G> A (p.Arg775His) single nucleotide variant Pathogenic rs137852572 GRCh37 Chromosome X, 66941680: 66941680
15 AR NM_000044.4(AR): c.1823G> A (p.Arg608Gln) single nucleotide variant Pathogenic rs137852573 GRCh37 Chromosome X, 66905906: 66905906
16 AR NM_000044.4(AR): c.2599G> T (p.Val867Leu) single nucleotide variant Pathogenic rs137852564 GRCh37 Chromosome X, 66942818: 66942818
17 AR NM_000044.4(AR): c.2567G> A (p.Arg856His) single nucleotide variant Pathogenic rs9332971 GRCh37 Chromosome X, 66942786: 66942786
18 AR NM_000044.4(AR): c.178C> T (p.Gln60Ter) single nucleotide variant Pathogenic rs137852575 GRCh37 Chromosome X, 66765166: 66765166
19 AR NM_000044.3(AR): c.(2173+1_2174-1)_(2318+1_2319-1)del deletion Pathogenic
20 AR NM_000044.3(AR): c.(2318+1_2319-1)_(2607+1_2608-1)del deletion Pathogenic
21 AR NM_000044.4(AR): c.2522G> A (p.Arg841His) single nucleotide variant Pathogenic rs9332969 GRCh37 Chromosome X, 66942741: 66942741
22 AR NM_000044.4(AR): c.2521C> T (p.Arg841Cys) single nucleotide variant Pathogenic rs137852577 GRCh37 Chromosome X, 66942740: 66942740
23 AR NM_000044.4(AR): c.2033T> C (p.Leu678Pro) single nucleotide variant Pathogenic rs137852579 GRCh37 Chromosome X, 66931391: 66931391
24 AR NM_000044.4(AR): c.2123T> G (p.Leu708Arg) single nucleotide variant Pathogenic rs137852585 GRCh37 Chromosome X, 66931481: 66931481
25 AR NM_000044.4(AR): c.1739G> T (p.Cys580Phe) single nucleotide variant Pathogenic rs137852586 GRCh37 Chromosome X, 66863220: 66863220
26 AR NM_000044.4(AR): c.1748T> A (p.Phe583Tyr) single nucleotide variant Pathogenic rs137852587 GRCh37 Chromosome X, 66863229: 66863229
27 AR NM_000044.4(AR): c.4G> A (p.Glu2Lys) single nucleotide variant Pathogenic rs104894742 GRCh37 Chromosome X, 66764992: 66764992
28 AR NM_000044.4(AR): c.2343G> T (p.Met781Ile) single nucleotide variant Pathogenic rs137852589 GRCh37 Chromosome X, 66941699: 66941699
29 AR AR, IVS2AS, T-A, -11 single nucleotide variant Pathogenic
30 AR NM_000044.4(AR): c.521T> G (p.Leu174Ter) single nucleotide variant Pathogenic rs137852590 GRCh37 Chromosome X, 66765509: 66765509
31 AR NM_000044.4(AR): c.2395C> G (p.Gln799Glu) single nucleotide variant Pathogenic/Likely pathogenic rs137852591 GRCh37 Chromosome X, 66941751: 66941751
32 AR NM_000044.4(AR): c.2423T> C (p.Met808Thr) single nucleotide variant Pathogenic rs137852592 GRCh37 Chromosome X, 66941779: 66941779
33 AR NM_000044.4(AR): c.179dupA (p.Gln61Alafs) duplication Pathogenic rs759327087 GRCh37 Chromosome X, 66765167: 66765167
34 AR NM_000044.4(AR): c.2667C> T (p.Ser889=) single nucleotide variant Pathogenic rs137852594 GRCh37 Chromosome X, 66943587: 66943587
35 AR AR, IVS6, G-T, +5 single nucleotide variant Pathogenic
36 AR NM_000044.4(AR): c.2137C> T (p.Leu713Phe) single nucleotide variant Pathogenic rs137852595 GRCh37 Chromosome X, 66931495: 66931495
37 AR NM_000044.4(AR): c.1732G> A (p.Gly578Arg) single nucleotide variant Pathogenic rs137852596 GRCh37 Chromosome X, 66863213: 66863213
38 AR NM_000044.4(AR): c.2596T> C (p.Ser866Pro) single nucleotide variant Pathogenic rs137852597 GRCh37 Chromosome X, 66942815: 66942815
39 AR NM_000044.4(AR): c.2069A> C (p.His690Pro) single nucleotide variant Pathogenic rs137852599 GRCh37 Chromosome X, 66931427: 66931427
40 AR NM_000044.4(AR): c.2231G> T (p.Gly744Val) single nucleotide variant Pathogenic rs137852600 GRCh37 Chromosome X, 66937377: 66937377
41 AR NM_000044.4(AR): c.2231G> A (p.Gly744Glu) single nucleotide variant Pathogenic rs137852600 GRCh37 Chromosome X, 66937377: 66937377
42 AR NM_000044.4(AR): c.2281_2287delAGGATGCinsTTCGCCCCTGA (p.Arg761Phefs) indel Pathogenic rs869320732 GRCh38 Chromosome X, 67717585: 67717591
43 AR NM_000044.4(AR): c.2222C> G (p.Ser741Cys) single nucleotide variant Pathogenic rs137852601 GRCh37 Chromosome X, 66937368: 66937368
44 AR NM_000044.4(AR): c.1937C> A (p.Ala646Asp) single nucleotide variant Pathogenic rs1800053 GRCh37 Chromosome X, 66931295: 66931295
45 AR NM_000044.4(AR) undetermined variant Pathogenic GRCh38 Chromosome X, 67545318: 67545320
46 AR NM_000044.4(AR): c.1174C> T (p.Pro392Ser) single nucleotide variant Pathogenic rs201934623 GRCh37 Chromosome X, 66766162: 66766162
47 AR NM_000044.4(AR): c.1685T> C (p.Ile562Thr) single nucleotide variant Likely pathogenic rs886041050 GRCh38 Chromosome X, 67643324: 67643324
48 AR NM_000044.4(AR): c.865G> T (p.Glu289Ter) single nucleotide variant Pathogenic rs750324117 GRCh37 Chromosome X, 66765853: 66765853

Expression for Androgen Insensitivity

Search GEO for disease gene expression data for Androgen Insensitivity.

Pathways for Androgen Insensitivity

GO Terms for Androgen Insensitivity

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

(show all 18)
id Name GO ID Score Top Affiliating Genes
1 positive regulation of transcription from RNA polymerase II promoter GO:0045944 9.96 AR CGA NCOA1 NR1H2 NR5A1
2 positive regulation of transcription, DNA-templated GO:0045893 9.83 AR NCOA1 NR1H2 NR5A1 SRY
3 cell-cell signaling GO:0007267 9.8 AR CGA NR5A1 SRD5A2
4 transcription initiation from RNA polymerase II promoter GO:0006367 9.71 AR NR1H2 NR5A1
5 regulation of transcription from RNA polymerase II promoter GO:0006357 9.65 AR CGA NR1H2 NR5A1 SRY
6 cellular lipid metabolic process GO:0044255 9.58 NCOA1 NR1H2
7 androgen receptor signaling pathway GO:0030521 9.57 AR NCOA1
8 female gonad development GO:0008585 9.55 CYP19A1 NR5A1
9 androgen metabolic process GO:0008209 9.52 CYP19A1 SRD5A2
10 hypothalamus development GO:0021854 9.51 NCOA1 SRD5A2
11 steroid hormone mediated signaling pathway GO:0043401 9.5 AR NR1H2 NR5A1
12 prostate gland growth GO:0060736 9.48 AR CYP19A1
13 positive regulation of male gonad development GO:2000020 9.46 NR5A1 SRY
14 testosterone biosynthetic process GO:0061370 9.4 CYP19A1 SRD5A2
15 female genitalia development GO:0030540 9.37 CYP19A1 SRD5A2
16 intracellular receptor signaling pathway GO:0030522 9.33 AR NCOA1 NR5A1
17 sex differentiation GO:0007548 9.13 AR SRD5A2 SRY
18 male gonad development GO:0008584 8.92 AR NCOA1 NR5A1 SRD5A2

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

id Name GO ID Score Top Affiliating Genes
1 lipid binding GO:0008289 9.56 APOD AR NR5A1 SHBG
2 steroid binding GO:0005496 9.37 AR SHBG
3 steroid hormone receptor activity GO:0003707 9.33 AR NR1H2 NR5A1
4 retinoid X receptor binding GO:0046965 9.32 NCOA1 NR1H2
5 androgen binding GO:0005497 8.96 AR SHBG
6 RNA polymerase II transcription factor activity, ligand-activated sequence-specific DNA binding GO:0004879 8.8 AR NR1H2 NR5A1

Sources for Androgen Insensitivity

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
Content
Loading form....