MCID: AND015
MIFTS: 63

Androgen Insensitivity

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

Aliases & Classifications for Androgen Insensitivity

MalaCards integrated aliases for Androgen Insensitivity:

Name: Androgen Insensitivity 54 13
Androgen Insensitivity Syndrome 12 72 23 50 24 25 71 52 14
Androgen Resistance Syndrome 12 24 25 71 29
Androgen Receptor Deficiency 50 24 25 71 69
Testicular Feminization 12 23 24 29 69
Ais 50 24 25 71
Dihydrotestosterone Receptor Deficiency 50 25 71
Androgen-Insensitivity Syndrome 12 42 69
Dhtr Deficiency 50 25 71
Testicular Feminization Syndrome 12 71
Reifenstein Syndrome 24 69
Ar Deficiency 25 71
Complete Androgen Insensitivity Syndrome 71
Goldberg - Maxwell Syndrome 12
Androgen Insensitivity Nos 69
Feminisation - Testicular 12
Goldberg-Maxwell Syndrome 12
Androgen Receptor 13
Cais 71
Tfm 71
Ar 45

Characteristics:

OMIM:

54
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:
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 hypogonadism and prostate cancer, and has symptoms including cryptorchidism, inguinal hernia and absent axillary hair. 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 Everolimus have been mentioned in the context of this disorder. Affiliated tissues include testes, uterus and breast, and related phenotypes are endocrine/exocrine gland and reproductive system

UniProtKB/Swiss-Prot : 71 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.

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 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)

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.

Wikipedia : 72 Androgen insensitivity syndrome (AIS) is an intersex condition in which there is a 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 168)
id Related Disease Score Top Affiliating Genes
1 hypogonadism 29.6 CYP19A1 NR5A1
2 prostate cancer 28.9 AR CYP19A1 LYVE1 SHBG SRD5A2
3 androgen insensitivity, partial, with or without breast cancer 28.2 APOD AR CGA CYP19A1 LYVE1 MAMLD1
4 complete androgen insensitivity syndrome 12.6
5 androgen insensitivity syndrome, mild 12.1
6 familial mediterranean fever, ar 12.1
7 epidermolysis bullosa dystrophica, ar 12.0
8 hypophosphatemic rickets, ar 12.0
9 immunodeficiency 27a, mycobacteriosis, ar 11.9
10 amelogenesis imperfecta 11.7
11 autoimmune inner ear disease 11.7
12 aland island eye disease 11.5
13 hypospadias 1, x-linked 11.1
14 adolescent idiopathic scoliosis 11.1
15 hereditary amyloidosis 11.1
16 aortic valve insufficiency 11.0
17 spinal and bulbar muscular atrophy of kennedy 11.0
18 hypospadias 2, x-linked 11.0
19 pediatric arterial ischemic stroke 10.9
20 amelogenesis imperfecta, type ib 10.9
21 salt and pepper developmental regression syndrome 10.7
22 jalili syndrome 10.7
23 amelogenesis imperfecta, type ij 10.7
24 amelogenesis imperfecta, type 1e 10.7
25 osteogenesis imperfecta 10.4 AR CYP19A1
26 prostatitis 10.4
27 ulceroglandular tularemia 10.4 AR SHBG
28 esophagus sarcoma 10.3 AR CYP19A1
29 endometriosis 10.3 AR SHBG
30 glucocorticoid deficiency 2 10.3
31 high molecular weight kininogen deficiency 10.3
32 myelodysplastic syndrome 10.3
33 leukocyte adhesion deficiency 10.3
34 paroxysmal nocturnal hemoglobinuria, somatic 10.3
35 porphyria, acute intermittent 10.3
36 c8 deficiency, type i 10.3
37 rh deficiency syndrome 10.3
38 beriberi 10.3
39 c8 deficiency, type ii 10.3
40 mitochondrial complex iii deficiency, nuclear type 9 10.3 CGA CYP19A1
41 ocular hypotension 10.3 CGA CYP19A1
42 splenic disease 10.3 CGA SRY
43 polyneuropathy 10.3 CYP19A1 SHBG
44 idiopathic recurrent pericarditis 10.2 NR5A1 SRY
45 gastrojejunal ulcer 10.2 AR CYP19A1 SRD5A2
46 spermatogenic failure, y-linked, 1 10.2 NR5A1 SRY
47 intraventricular meningioma 10.2 AR CYP19A1 SRD5A2
48 acute thyroiditis 10.2 CYP19A1 SHBG
49 infratentorial cancer 10.2 AR CYP19A1 SRD5A2
50 cerebritis 10.2

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



Diseases related to Androgen Insensitivity

Symptoms & Phenotypes for Androgen Insensitivity

Symptoms via clinical synopsis from OMIM:

54

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

Skin Nails & Hair- Hair:
sparse to absent axillary hair
sparse to absent pubic hair
absent facial 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

Human phenotypes related to Androgen Insensitivity:

32 (show all 21)
id Description HPO Frequency HPO Source Accession
1 cryptorchidism 32 hallmark (90%) HP:0000028
2 inguinal hernia 32 frequent (33%) HP:0000023
3 absent axillary hair 32 hallmark (90%) HP:0002221
4 absent pubic hair 32 hallmark (90%) HP:0002555
5 delayed puberty 32 hallmark (90%) HP:0000823
6 primary amenorrhea 32 HP:0000786
7 gynecomastia 32 HP:0000771
8 sparse pubic hair 32 hallmark (90%) HP:0002225
9 sparse axillary hair 32 hallmark (90%) HP:0002215
10 male pseudohermaphroditism 32 hallmark (90%) HP:0000037
11 male infertility 32 hallmark (90%) HP:0003251
12 absent facial hair 32 HP:0002550
13 neoplasm 32 HP:0002664
14 testicular neoplasm 32 occasional (7.5%) HP:0010788
15 ambiguous genitalia, male 32 hallmark (90%) HP:0000033
16 elevated follicle stimulating hormone 32 HP:0008232
17 female external genitalia in individual with 46,xy karyotype 32 HP:0008730
18 elevated luteinizing hormone 32 HP:0011969
19 aplasia/hypoplasia of the uterus 32 hallmark (90%) HP:0008684
20 aplasia/hypoplasia of the fallopian tube 32 hallmark (90%) HP:0008655
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 9.43 AR CGA CYP19A1 NCOA1 NR5A1 SRD5A2
2 reproductive system MP:0005389 9.1 AR CGA CYP19A1 NCOA1 NR5A1 SRD5A2

Drugs & Therapeutics for Androgen Insensitivity

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

(show all 14)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Bicalutamide Approved Phase 1, Phase 2 90357-06-5 56069 2375
2
Everolimus Approved Phase 1, Phase 2 159351-69-6 6442177
3
Miconazole Approved, Investigational, Vet_approved Phase 1, Phase 2 22916-47-8 4189
4
Sirolimus Approved, Investigational Phase 1, Phase 2 53123-88-9 5284616 6436030 46835353
5 Androgen Antagonists Phase 1, Phase 2
6 Androgens Phase 1, Phase 2
7 Anti-Bacterial Agents Phase 1, Phase 2
8 Antibiotics, Antitubercular Phase 1, Phase 2
9 Antifungal Agents Phase 1, Phase 2
10 Anti-Infective Agents Phase 1, Phase 2
11 Hormone Antagonists Phase 1, Phase 2
12 Hormones Phase 1, Phase 2
13 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 1, Phase 2
14 Immunosuppressive Agents Phase 1, Phase 2

Interventional clinical trials:


id Name Status NCT ID Phase Drugs
1 Temsirolimus to Reverse Androgen Insensitivity for Castration-resistant Prostate Cancer Terminated NCT01020305 Phase 1, Phase 2 Temsirolimus;Casodex (bicalutamide)

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, Bone, Skin, Testis

Publications for Androgen Insensitivity

Articles related to Androgen Insensitivity:

(show top 50) (show all 547)
id Title Authors Year
1
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
2
Sexual orientation and medical history among Iranian people with Complete Androgen Insensitivity Syndrome and Congenital Adrenal Hyperplasia. ( 27998513 )
2017
3
Re: Topical Dihydrotestosterone to Treat Micropenis Secondary to Partial Androgen Insensitivity Syndrome (PAIS) before, during, and after Puberty-A Case Series. ( 28905769 )
2017
4
Clinical and genetic characterization of six cases with complete androgen insensitivity syndrome in China. ( 28947719 )
2017
5
Creation of a Neovagina by Laparoscopic Modified Davydov Vaginoplasty in Patients with Partial Androgen Insensitivity Syndrome. ( 28802954 )
2017
6
Mild androgen insensitivity syndrome (MAIS): the identification of c.1783C>T mutation in two unrelated infertile men. ( 28659371 )
2017
7
A rare polypyrimidine tract mutation in the androgen receptor gene results in complete androgen insensitivity syndrome. ( 28857053 )
2017
8
Gonadectomy in Complete Androgen Insensitivity Syndrome: Why and When? ( 28719904 )
2017
9
Bilateral Sertoli Cell Tumors in a Patient with Androgen Insensitivity Syndrome. ( 28386495 )
2017
10
Psychological Aspects of Androgen Insensitivity Syndrome: Two Cases Illustrating Therapeutical Challenges. ( 28386489 )
2017
11
Heterozygous Nonsense Mutation in the Androgen Receptor Gene Associated with Partial Androgen Insensitivity Syndrome in an Individual with 47,XXY Karyotype. ( 28456808 )
2017
12
AR mutations in 28 patients with androgen insensitivity syndrome (Prader grade 0-3). ( 28624954 )
2017
13
Effects of androgen receptor mutation on testicular histopathology of patient having complete androgen insensitivity. ( 28299491 )
2017
14
Increased psychiatric morbidity in women with complete androgen insensitivity syndrome or complete gonadal dysgenesis. ( 28867417 )
2017
15
Bone mineral density in complete androgen insensitivity syndrome and the timing of gonadectomy. ( 28493277 )
2017
16
Hormone replacement treatment choices in complete androgen insensitivity syndrome: an audit of an adult clinic. ( 28615185 )
2017
17
Frequency of gonadal tumours in complete androgen insensitivity syndrome (CAIS): A retrospective case-series analysis. ( 28351649 )
2017
18
Do sex differences in CEOAEs and 2D:4D ratios reflect androgen exposure? A study in women with complete androgen insensitivity syndrome. ( 28413602 )
2017
19
Gonadal Surgery in Complete Androgen Insensitivity Syndrome: A Debate. ( 28609774 )
2017
20
[Analysis of AR gene mutation in a family affected with complete androgen insensitivity syndrome using long chain RT-PCR]. ( 28186600 )
2017
21
Update on the Pathophysiology and Risk Factors for the Development of Malignant Testicular Germ Cell Tumors in Complete Androgen Insensitivity Syndrome. ( 28719895 )
2017
22
A recurrent synonymous mutation in the human androgen receptor gene causing complete androgen insensitivity syndrome. ( 28743543 )
2017
23
Mutational Analysis of Androgen Receptor Gene in Two Families with Androgen Insensitivity. ( 28670533 )
2017
24
Bone Mineral Density in Women Living with Complete Androgen Insensitivity Syndrome and Intact Testes or Removed Gonads. ( 28715798 )
2017
25
FDG PET/CT Image of Seminoma in Androgen Insensitivity Syndrome. ( 28604478 )
2017
26
Testicular Feminization or Androgen Insensitivity Syndrome (AIS) in Iran: a Retrospective Analysis of 30-Year Data. ( 27057514 )
2016
27
Laparoscopic Gonadectomy and Hernia Repair for Complete Androgen Insensitivity Syndrome (CAIS): A Rare Cause of Primary Amenorrhea. ( 27298532 )
2016
28
Three novel and two known androgen receptor gene mutations associated with androgen insensitivity syndrome in sex-reversed XY female patients. ( 27994190 )
2016
29
Re: Meta-Analysis of Androgen Insensitivity in Preoperative Hormone Therapy in Hypospadias. ( 26699970 )
2016
30
A Recurrent Germline Mutation in the 5'UTR of the Androgen Receptor Causes Complete Androgen Insensitivity by Activating Aberrant uORF Translation. ( 27110943 )
2016
31
Failure of laparoscopic Vecchietti procedure in a woman with androgen insensitivity syndrome. ( 27048032 )
2016
32
The Multifacets of Androgen Insensitivity Syndrome. ( 27324169 )
2016
33
Identification of an AR-mutation negative class of androgen insensitivity BY DETERMINING endogenous AR-ACTIVITY. ( 27583472 )
2016
34
Complete androgen insensitivity syndrome with concomitant seminoma and Sertoli cell adenoma: an unusual combination. ( 28039344 )
2016
35
The Long Term Outcome Of Boys With Partial Androgen Insensitivity Syndrome And A Mutation In The Androgen Receptor Gene. ( 27403927 )
2016
36
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
37
Complete androgen insensitivity syndrome or testicular feminization: review of literature based on a case report. ( 28270903 )
2016
38
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
39
Complete androgen insensitivity syndrome caused by a deep intronic pseudoexon-activating mutation in the androgen receptor gene. ( 27609317 )
2016
40
Complete Androgen Insensitivity Syndrome in Three Generations of Indian Pedigree. ( 27651630 )
2016
41
A Novel Mutation In Human Androgen Receptor Gene Causing Partial Androgen Insensitivity Syndrome In A Patient Presenting With Gynecomastia At Puberty. ( 27087292 )
2016
42
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
43
A missense mutation in the androgen receptor gene causing androgen insensitivity syndrome in a Chinese family. ( 26806084 )
2016
44
Mutational analysis of the androgen receptor gene in two Chinese families with complete androgen insensitivity syndrome. ( 27284311 )
2016
45
Androgen insensitivity syndrome in a cohort of Sri Lankan children with 46, XY disorders of sex development (46, XY DSD). ( 26778393 )
2015
46
Chromosomal Study is Must for Prepubertal Girl with Inguinal Hernia: Opportunity to Diagnose Complete Androgen Insensitivity Syndrome. ( 26023570 )
2015
47
Polycystic ovary syndrome woman with heterozygous androgen receptor gene mutation who gave birth to a child with androgen insensitivity syndrome. ( 25798434 )
2015
48
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
49
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
50
Topical dihydrotestosterone to treat micropenis secondary to partial androgen insensitivity syndrome (PAIS) before, during, and after puberty - a case series. ( 26352087 )
2015

Variations for Androgen Insensitivity

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

71 (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 35)
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.2650A> T (p.Lys884Ter) single nucleotide variant Pathogenic rs137852568 GRCh37 Chromosome X, 66943570: 66943570
9 AR NM_000044.4(AR): c.2362A> G (p.Met788Val) single nucleotide variant Pathogenic rs137852570 GRCh37 Chromosome X, 66941718: 66941718
10 AR NM_000044.4(AR): c.180_181delGC (p.Gln61Alafs) deletion Pathogenic rs869320731 GRCh37 Chromosome X, 66765168: 66765169
11 AR NM_000044.4(AR): c.2571C> G (p.Phe857Leu) single nucleotide variant Pathogenic rs137852598 GRCh37 Chromosome X, 66942790: 66942790
12 AR NM_000044.4(AR): c.2324G> A (p.Arg775His) single nucleotide variant Pathogenic rs137852572 GRCh37 Chromosome X, 66941680: 66941680
13 AR NM_000044.4(AR): c.178C> T (p.Gln60Ter) single nucleotide variant Pathogenic rs137852575 GRCh37 Chromosome X, 66765166: 66765166
14 AR NM_000044.3(AR): c.(2173+1_2174-1)_(2318+1_2319-1)del deletion Pathogenic
15 AR NM_000044.3(AR): c.(2318+1_2319-1)_(2607+1_2608-1)del deletion Pathogenic
16 AR NM_000044.4(AR): c.2521C> T (p.Arg841Cys) single nucleotide variant Pathogenic rs137852577 GRCh37 Chromosome X, 66942740: 66942740
17 AR NM_000044.4(AR): c.2033T> C (p.Leu678Pro) single nucleotide variant Pathogenic rs137852579 GRCh37 Chromosome X, 66931391: 66931391
18 AR NM_000044.4(AR): c.2123T> G (p.Leu708Arg) single nucleotide variant Pathogenic rs137852585 GRCh37 Chromosome X, 66931481: 66931481
19 AR NM_000044.4(AR): c.1739G> T (p.Cys580Phe) single nucleotide variant Pathogenic rs137852586 GRCh37 Chromosome X, 66863220: 66863220
20 AR NM_000044.4(AR): c.1748T> A (p.Phe583Tyr) single nucleotide variant Pathogenic rs137852587 GRCh37 Chromosome X, 66863229: 66863229
21 AR NM_000044.4(AR): c.2343G> T (p.Met781Ile) single nucleotide variant Pathogenic rs137852589 GRCh37 Chromosome X, 66941699: 66941699
22 AR NM_000044.4(AR): c.179dupA (p.Gln61Alafs) duplication Pathogenic rs759327087 GRCh37 Chromosome X, 66765167: 66765167
23 AR NM_000044.4(AR): c.2667C> T (p.Ser889=) single nucleotide variant Pathogenic rs137852594 GRCh37 Chromosome X, 66943587: 66943587
24 AR NM_000044.4(AR): c.2137C> T (p.Leu713Phe) single nucleotide variant Pathogenic rs137852595 GRCh37 Chromosome X, 66931495: 66931495
25 AR NM_000044.4(AR): c.1732G> A (p.Gly578Arg) single nucleotide variant Pathogenic rs137852596 GRCh37 Chromosome X, 66863213: 66863213
26 AR NM_000044.4(AR): c.2596T> C (p.Ser866Pro) single nucleotide variant Pathogenic rs137852597 GRCh37 Chromosome X, 66942815: 66942815
27 AR NM_000044.4(AR): c.2069A> C (p.His690Pro) single nucleotide variant Pathogenic rs137852599 GRCh37 Chromosome X, 66931427: 66931427
28 AR NM_000044.4(AR): c.2231G> T (p.Gly744Val) single nucleotide variant Pathogenic rs137852600 GRCh37 Chromosome X, 66937377: 66937377
29 AR NM_000044.4(AR): c.2231G> A (p.Gly744Glu) single nucleotide variant Pathogenic rs137852600 GRCh37 Chromosome X, 66937377: 66937377
30 AR NM_000044.4(AR): c.2281_2287delAGGATGCinsTTCGCCCCTGA (p.Arg761Phefs) indel Pathogenic rs869320732 GRCh38 Chromosome X, 67717585: 67717591
31 AR NM_000044.4(AR) undetermined variant Pathogenic GRCh37 Chromosome X, 66765160: 66765162
32 AR NM_000044.4(AR): c.1685T> C (p.Ile562Thr) single nucleotide variant Likely pathogenic rs886041050 GRCh37 Chromosome X, 66863166: 66863166
33 AR NM_000044.4(AR): c.865G> T (p.Glu289Ter) single nucleotide variant Pathogenic rs750324117 GRCh37 Chromosome X, 66765853: 66765853
34 AR NM_000044.4(AR): c.1846C> T (p.Arg616Cys) single nucleotide variant Pathogenic GRCh37 Chromosome X, 66905929: 66905929
35 AR NM_000044.4(AR): c.2090C> A (p.Ser697Tyr) single nucleotide variant Likely pathogenic GRCh37 Chromosome X, 66931448: 66931448

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 15)
id Name GO ID Score Top Affiliating Genes
1 positive regulation of transcription, DNA-templated GO:0045893 9.83 AR NCOA1 NR5A1 SRY
2 cell-cell signaling GO:0007267 9.76 AR CGA NR5A1 SRD5A2
3 regulation of transcription from RNA polymerase II promoter GO:0006357 9.65 AR CGA MAMLD1 NR5A1 SRY
4 cellular response to hormone stimulus GO:0032870 9.55 CGA NCOA1
5 androgen receptor signaling pathway GO:0030521 9.54 AR NCOA1
6 female gonad development GO:0008585 9.51 CYP19A1 NR5A1
7 androgen metabolic process GO:0008209 9.49 CYP19A1 SRD5A2
8 hypothalamus development GO:0021854 9.48 NCOA1 SRD5A2
9 positive regulation of male gonad development GO:2000020 9.43 NR5A1 SRY
10 prostate gland growth GO:0060736 9.4 AR CYP19A1
11 testosterone biosynthetic process GO:0061370 9.37 CYP19A1 SRD5A2
12 intracellular receptor signaling pathway GO:0030522 9.33 AR NCOA1 NR5A1
13 female genitalia development GO:0030540 9.32 CYP19A1 SRD5A2
14 sex differentiation GO:0007548 9.13 AR SRD5A2 SRY
15 male gonad development GO:0008584 9.02 AR MAMLD1 NCOA1 NR5A1 SRD5A2

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

id Name GO ID Score Top Affiliating Genes
1 RNA polymerase II transcription factor activity, ligand-activated sequence-specific DNA binding GO:0004879 9.26 AR NR5A1
2 lipid binding GO:0008289 9.26 APOD AR NR5A1 SHBG
3 steroid binding GO:0005496 9.16 AR SHBG
4 androgen binding GO:0005497 8.62 AR SHBG

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 HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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