MCID: CMP034
MIFTS: 45

Complete Androgen Insensitivity Syndrome

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

Aliases & Classifications for Complete Androgen Insensitivity Syndrome

MalaCards integrated aliases for Complete Androgen Insensitivity Syndrome:

Name: Complete Androgen Insensitivity Syndrome 50 24 56
Cais 50 24 56
Androgen Insensitivity Syndrome, Complete 50
Complete Testicular Feminization Syndrome 24
Androgen Insensitivity Syndrome Complete 52
Complete Androgen Resistance Syndrome 56
Testicular Feminization 69

Characteristics:

Orphanet epidemiological data:

56
complete androgen insensitivity syndrome
Inheritance: X-linked recessive; Age of onset: All ages; Age of death: normal life expectancy;

Classifications:



Summaries for Complete Androgen Insensitivity Syndrome

NIH Rare Diseases : 50 complete androgen insensitivity syndromeis a condition that affects sexual development before birth and during puberty. people with this condition are genetically male (one x and one y chromosome) but do not respond to male hormones at all. as a result, they generally have normal female external genitalia and female breasts. however, they do not have a uterus or cervix so are unable to menstruate or conceive children. other signs and symptoms may include undescended testes and sparse to absent pubic hair. gender identity is typically female. complete androgen insensitivity syndrome is caused by changes (mutations) in the ar gene and is inherited in an x-linked manner. treatment and gender assignment can be a very complex issue, and must be individualized with each affected person. in general, surgery may be required to remove testes that are located in unusual places and estrogen replacement therapy can be prescribed after puberty. last updated: 11/18/2015

MalaCards based summary : Complete Androgen Insensitivity Syndrome, also known as cais, is related to androgen insensitivity and gastroesophageal junction adenocarcinoma, and has symptoms including inguinal hernia, cryptorchidism and testicular gonadoblastoma. An important gene associated with Complete Androgen Insensitivity Syndrome is AR (Androgen Receptor), and among its related pathways/superpathways are Metabolism of proteins and Glucose / Energy Metabolism. Affiliated tissues include uterus, testes and cervix, and related phenotypes are endocrine/exocrine gland and liver/biliary system

Wikipedia : 72 Complete androgen insensitivity syndrome (CAIS) is a condition that results in the complete inability of... more...

Related Diseases for Complete Androgen Insensitivity Syndrome

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

(showing 88, show less)
id Related Disease Score Top Affiliating Genes
1 androgen insensitivity 11.7
2 gastroesophageal junction adenocarcinoma 10.7 AR MUC1
3 pemphigus vulgaris, familial 10.7 AR MUC1
4 short-rib thoracic dysplasia 12 10.6 LYVE1 MUC1
5 central nervous system melanocytic neoplasm 10.6 AR MUC1
6 bell's palsy 10.6 IGF2 IGFBP3
7 epiphora due to excess lacrimation 10.6 IGF2 PTGDS
8 growth hormone insensitivity, partial 10.5 IGF2 IGFBP3
9 anterior spinal artery stroke 10.5 CGA SRY
10 ulceroglandular tularemia 10.5 AR SHBG
11 endometriosis 10.5 AR SHBG
12 pepck 1 deficiency 10.5 AR CGA IGFBP3
13 vulvar keratoacanthoma-like carcinoma 10.5 LYVE1 MUC1
14 male genital organ stricture 10.5 IGFBP3 SHBG
15 splenic disease 10.4 CGA SRY
16 pediatric osteosarcoma 10.4 IGFBP2 IGFBP3
17 mediastinum synovial sarcoma 10.4 MUC1 SRY
18 bile duct mucoepidermoid carcinoma 10.4 MUC1 MUC5AC
19 contagious pustular dermatitis 10.4 CGA SHBG
20 fetal parvovirus syndrome 10.4 IGF2 IGFBP3
21 mucoepidermoid esophageal carcinoma 10.3 MUC1 MUC5AC
22 bestiality 10.3 MUC1 MUC5AC
23 testicular trophoblastic tumor 10.3 MUC1 MUC5AC
24 proliferative type fibrocystic change of breast 10.3 MUC1 MUC5AC
25 uremic neuropathy 10.3 MUC1 MUC5AC
26 patent ductus arteriosus and bicuspid aortic valve with hand anomalies 10.3 IGF2 MUC1
27 medullomyoblastoma 10.3 AR IGFBP3 SHBG
28 uterine corpus adenofibroma 10.3 MUC1 MUC5AC
29 acute dacryoadenitis 10.3 MUC1 MUC5AC
30 acinar cell cystadenocarcinoma 10.2 MUC1 MUC5AC
31 liver disease 10.2 MUC1 MUC5AC
32 prostate small cell carcinoma 10.2 AR MUC5AC
33 nipple neoplasm 10.2 AR CGA SHBG
34 gastrojejunal ulcer 10.2 AR CYP19A1
35 osteogenesis imperfecta 10.2 AR CYP19A1
36 inguinal hernia 10.2
37 encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1 10.2 MUC1 MUC5AC
38 cavernous sinus thrombosis 10.2 MUC1 MUC5AC
39 leydig cell tumor 10.1
40 capillary lymphangioma 10.1 AR SHBG SRY
41 classic variant of chromophobe renal cell carcinoma 10.1 MUC1 MUC5AC
42 mitochondrial complex iii deficiency, nuclear type 9 10.1 CGA CYP19A1
43 uterine corpus apoplectic leiomyoma 10.1 MUC1 MUC5AC
44 ocular hypotension 10.1 CGA CYP19A1
45 sertoli-leydig cell tumor 10.1
46 bile duct signet ring cell carcinoma 10.1 IGFBP3 SHBG SRY
47 childhood kidney cell carcinoma 10.1 ALPPL2 CGA IGF2
48 sphenoid sinusitis 10.0 LYVE1 MUC5AC
49 adenoma 10.0
50 infratentorial cancer 10.0 AR CYP19A1 NR1H2
51 benign shuddering attacks 10.0 AR CYP19A1 IGFBP3
52 polyneuropathy 10.0 CYP19A1 SHBG
53 amenorrhea 9.9
54 gonadal dysgenesis 9.9
55 seminoma 9.9
56 hydronephrosis, congenital, with cleft palate, characteristic facies, hypotonia, and mental retardation 9.9 ALPPL2 SRY
57 acute thyroiditis 9.9 CYP19A1 SHBG
58 vaginal discharge 9.8 AR CGA SHBG SRY
59 sohval soffer syndrome 9.8 MUC1 MUC5AC
60 testicular germ cell tumor 9.8
61 mayer-rokitansky-kuster-hauser syndrome 9.8
62 congenital adrenal hyperplasia 9.8
63 leiomyoma 9.8
64 prostatitis 9.8
65 vaginitis 9.8
66 sertoli cell tumor 9.8
67 cystadenofibroma 9.8
68 germ cells tumors 9.8
69 precocious puberty 9.8
70 microtia 9.8
71 esophagus sarcoma 9.8 AR CYP19A1
72 epilepsy, idiopathic generalized 11 9.7 AR CYP19A1 SHBG
73 glioblastoma proneural subtype 9.7 AR CYP19A1 SHBG
74 lung cancer susceptibility 2 9.7 IGF2 IGFBP2 IGFBP3 SHBG
75 adrenoleukodystrophy 9.7 CYP19A1 IGFBP3 SHBG
76 porokeratosis 9.6 CGA CYP19A1 SHBG
77 pseudopterygium 9.6 CGA CYP19A1 SHBG
78 mucinous cystadenocarcinoma 9.6 ALPPL2 CGA CYP19A1
79 osteopathia striata with cranial sclerosis 9.5 AR CYP19A1 LYVE1 SHBG
80 diabetes mellitus, insulin-resistant, with acanthosis nigricans 9.4 ALPPL2 AR CGA PTGDS SHBG
81 chylomicron retention disease 9.4 AR CYP19A1 IGFBP3 SHBG
82 sphingolipidosis 9.3 AR CYP19A1 SHBG SRY
83 avoidant personality disorder 9.3 AR CYP19A1 SHBG SRY
84 capillary disease 9.0 AR CGA CYP19A1 SHBG SRY
85 hepatic adenoma, somatic 8.9 IGF2 IGFBP2 IGFBP3 SHBG
86 androgen insensitivity, partial, with or without breast cancer 8.7 AR CGA CYP19A1 LYVE1 SHBG SRY
87 prostate cancer 8.3 AR CYP19A1 IGF2 IGFBP2 IGFBP3 LYVE1
88 condrodisplasia punctata rizomélica 5.6 ALPPL2 AR CGA CYP19A1 IGF2 IGFBP2

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



Diseases related to Complete Androgen Insensitivity Syndrome

Symptoms & Phenotypes for Complete Androgen Insensitivity Syndrome

Human phenotypes related to Complete Androgen Insensitivity Syndrome:

56 32 (showing 16, show less)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 inguinal hernia 56 32 frequent (33%) Frequent (79-30%) HP:0000023
2 cryptorchidism 56 32 hallmark (90%) Very frequent (99-80%) HP:0000028
3 testicular gonadoblastoma 56 32 occasional (7.5%) Occasional (29-5%) HP:0000030
4 male pseudohermaphroditism 56 32 hallmark (90%) Very frequent (99-80%) HP:0000037
5 aplasia of the uterus 56 32 hallmark (90%) Very frequent (99-80%) HP:0000151
6 sensory neuropathy 56 32 occasional (7.5%) Occasional (29-5%) HP:0000763
7 gynecomastia 56 32 occasional (7.5%) Occasional (29-5%) HP:0000771
8 primary amenorrhea 56 32 hallmark (90%) Very frequent (99-80%) HP:0000786
9 nephrolithiasis 56 32 hallmark (90%) Very frequent (99-80%) HP:0000787
10 infertility 56 32 hallmark (90%) Very frequent (99-80%) HP:0000789
11 osteoporosis 56 32 frequent (33%) Frequent (79-30%) HP:0000939
12 tremor 56 32 occasional (7.5%) Occasional (29-5%) HP:0001337
13 absent axillary hair 56 32 hallmark (90%) Very frequent (99-80%) HP:0002221
14 absent pubic hair 56 32 hallmark (90%) Very frequent (99-80%) HP:0002555
15 muscle cramps 56 32 occasional (7.5%) Occasional (29-5%) HP:0003394
16 aplasia/hypoplasia of the fallopian tube 56 32 hallmark (90%) Very frequent (99-80%) HP:0008655

MGI Mouse Phenotypes related to Complete Androgen Insensitivity Syndrome:

44 (showing 2, show less)
id Description MGI Source Accession Score Top Affiliating Genes
1 endocrine/exocrine gland MP:0005379 9.5 AR CGA CYP19A1 IGF2 IGFBP3 NR1H2
2 liver/biliary system MP:0005370 9.1 AR CYP19A1 IGF2 IGFBP2 IGFBP3 NR1H2

Drugs & Therapeutics for Complete Androgen Insensitivity Syndrome

Search Clinical Trials , NIH Clinical Center for Complete Androgen Insensitivity Syndrome

Genetic Tests for Complete Androgen Insensitivity Syndrome

Genetic tests related to Complete Androgen Insensitivity Syndrome:

id Genetic test Affiliating Genes
1 Complete Androgen Insensitivity Syndrome 24 AR

Anatomical Context for Complete Androgen Insensitivity Syndrome

MalaCards organs/tissues related to Complete Androgen Insensitivity Syndrome:

39
Uterus, Testes, Cervix, Bone, Skin, Kidney, Testis

Publications for Complete Androgen Insensitivity Syndrome

Articles related to Complete Androgen Insensitivity Syndrome:

(showing 177, show less)
id Title Authors Year
1
Sexual orientation and medical history among Iranian people with Complete Androgen Insensitivity Syndrome and Congenital Adrenal Hyperplasia. ( 27998513 )
2017
2
Clinical and genetic characterization of six cases with complete androgen insensitivity syndrome in China. ( 28947719 )
2017
3
A rare polypyrimidine tract mutation in the androgen receptor gene results in complete androgen insensitivity syndrome. ( 28857053 )
2017
4
Gonadectomy in Complete Androgen Insensitivity Syndrome: Why and When? ( 28719904 )
2017
5
Increased psychiatric morbidity in women with complete androgen insensitivity syndrome or complete gonadal dysgenesis. ( 28867417 )
2017
6
Bone mineral density in complete androgen insensitivity syndrome and the timing of gonadectomy. ( 28493277 )
2017
7
Hormone replacement treatment choices in complete androgen insensitivity syndrome: an audit of an adult clinic. ( 28615185 )
2017
8
Frequency of gonadal tumours in complete androgen insensitivity syndrome (CAIS): A retrospective case-series analysis. ( 28351649 )
2017
9
Do sex differences in CEOAEs and 2D:4D ratios reflect androgen exposure? A study in women with complete androgen insensitivity syndrome. ( 28413602 )
2017
10
Gonadal Surgery in Complete Androgen Insensitivity Syndrome: A Debate. ( 28609774 )
2017
11
[Analysis of AR gene mutation in a family affected with complete androgen insensitivity syndrome using long chain RT-PCR]. ( 28186600 )
2017
12
Update on the Pathophysiology and Risk Factors for the Development of Malignant Testicular Germ Cell Tumors in Complete Androgen Insensitivity Syndrome. ( 28719895 )
2017
13
A recurrent synonymous mutation in the human androgen receptor gene causing complete androgen insensitivity syndrome. ( 28743543 )
2017
14
Bone Mineral Density in Women Living with Complete Androgen Insensitivity Syndrome and Intact Testes or Removed Gonads. ( 28715798 )
2017
15
Laparoscopic Gonadectomy and Hernia Repair for Complete Androgen Insensitivity Syndrome (CAIS): A Rare Cause of Primary Amenorrhea. ( 27298532 )
2016
16
Complete androgen insensitivity syndrome with concomitant seminoma and Sertoli cell adenoma: an unusual combination. ( 28039344 )
2016
17
Complete androgen insensitivity syndrome or testicular feminization: review of literature based on a case report. ( 28270903 )
2016
18
Complete androgen insensitivity syndrome caused by a deep intronic pseudoexon-activating mutation in the androgen receptor gene. ( 27609317 )
2016
19
Complete Androgen Insensitivity Syndrome in Three Generations of Indian Pedigree. ( 27651630 )
2016
20
Mutational analysis of the androgen receptor gene in two Chinese families with complete androgen insensitivity syndrome. ( 27284311 )
2016
21
Chromosomal Study is Must for Prepubertal Girl with Inguinal Hernia: Opportunity to Diagnose Complete Androgen Insensitivity Syndrome. ( 26023570 )
2015
22
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
23
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
24
Different types of androgen receptor mutations in patients with complete androgen insensitivity syndrome. ( 25674389 )
2015
25
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
26
Timing of Gonadectomy in Patients with Complete Androgen Insensitivity Syndrome- Current Recommendations and Future Directions. ( 26428189 )
2015
27
Usefulness and role of magnetic resonance imaging in a case of complete androgen insensitivity syndrome. ( 27398128 )
2015
28
A novel mutation of the androgen receptor gene in familial complete androgen insensitivity syndrome. ( 26592841 )
2015
29
Characteristic features of reproductive hormone profiles in late adolescent and adult females with complete androgen insensitivity syndrome. ( 25613104 )
2015
30
Complete androgen insensitivity syndrome associated with male gender identity or female precocious puberty in the same family. ( 25633053 )
2015
31
Complete androgen insensitivity syndrome with a large gonadal serous papillary cystadenofibroma. ( 25191030 )
2014
32
Testicular feminization: complete androgen insensitivity syndrome. Discussions based on a case report. ( 24715185 )
2014
33
Complete androgen insensitivity syndrome in juveniles and adults with female phenotypes. ( 25170741 )
2014
34
Neural Activation During Mental Rotation in Complete Androgen Insensitivity Syndrome: the Influence of Sex Hormones and Sex Chromosomes. ( 25452569 )
2014
35
Brain responses to sexual images in 46,XY women with complete androgen insensitivity syndrome are female-typical. ( 25284435 )
2014
36
Laparoscopic gonedectomy in a case of complete androgen insensitivity syndrome. ( 25395750 )
2014
37
Diagnostic laparoscopy in a twelve year old girl with right iliac fossa pain: A life changing diagnosis of complete androgen insensitivity syndrome. ( 24995665 )
2014
38
Comment on "complete androgen insensitivity syndrome: optimizing diagnosis and management". ( 24949207 )
2014
39
Complete androgen insensitivity syndrome in three sisters. ( 24520507 )
2014
40
Response to: Comment on "Complete Androgen Insensitivity Syndrome: Optimizing Diagnosis and Management". ( 25574409 )
2014
41
Bilateral laparoscopic gonadectomy in a patient with complete androgen insensitivity syndrome and bilateral sertoli-leydig cell tumor: a case report and brief review of the literature. ( 25032133 )
2014
42
A Novel Mutation (c.2735_2736delTC) in the Androgen Receptor Gene in 46,XY Females with Complete Androgen Insensitivity Syndrome in an Egyptian Family. ( 25034089 )
2014
43
A case of complete androgen insensitivity syndrome: genetic analysis of the family. ( 25404833 )
2014
44
Complete androgen insensitivity syndrome with persistent mA1llerian remnants. A case report. ( 22682968 )
2013
45
Complete Androgen Insensitivity Syndrome with a Sertoli-Leydig Cell Tumor. ( 24333107 )
2013
46
Complete androgen insensitivity syndrome: a rare case of disorder of sex development. ( 23533861 )
2013
47
A large seminoma occurring 20A years after diagnosis of complete androgen insensitivity syndrome: A case report. ( 24371685 )
2013
48
A novel arg616Cys mutation in the DNA-binding domain of complete androgen insensitivity syndrome in a Chinese family. ( 24229697 )
2013
49
Complete androgen insensitivity syndrome and discordant MA1llerian remnants: two cases with novel mutation in the androgen receptor. ( 23729616 )
2013
50
L712V mutation in the androgen receptor gene causes complete androgen insensitivity syndrome due to severe loss of androgen function. ( 24055831 )
2013
51
Evaluation of retained testes in adolescent girls and women with complete androgen insensitivity syndrome. ( 23533290 )
2013
52
Differentiating Swyer Syndrome and Complete Androgen Insensitivity Syndrome: A Diagnostic Dilemma. ( 24119655 )
2013
53
Genetic analysis of a family with complete androgen insensitivity syndrome. ( 24339553 )
2013
54
Sexual Life and Sexual Wellness in Individuals with Complete Androgen Insensitivity Syndrome (CAIS) and Mayer-Rokitansky-KA1ster-Hauser Syndrome (MRKHS). ( 24165016 )
2013
55
Complete androgen insensitivity syndrome associated with bilateral Sertoli cell adenomas and paratesticular leiomyomas: case report and review of the literature. ( 22819761 )
2013
56
Screening for complete androgen insensitivity syndrome in girls with inguinal hernia: parental insight. ( 23418035 )
2013
57
Complete androgen insensitivity syndrome: factors influencing gonadal histology including germ cell pathology. ( 24186138 )
2013
58
Role of imaging in the diagnosis and management of complete androgen insensitivity syndrome in adults. ( 23762728 )
2013
59
The use of mouth brushings for screening girls who present with inguinal hernia for complete androgen insensitivity syndrome. ( 22517520 )
2012
60
Complete androgen insensitivity syndrome. ( 24293884 )
2012
61
Umbilical KeyPort bilateral laparoscopic orchiectomy in patient with complete androgen insensitivity syndrome. ( 23131511 )
2012
62
A novel nonsense mutation in the N-terminal domain of the androgen receptor gene causes complete androgen insensitivity syndrome. ( 22943730 )
2012
63
Timing of gonadectomy in adult women with complete androgen insensitivity syndrome (CAIS): patient preferences and clinical evidence. ( 22211628 )
2012
64
Ultrasound findings in a rare case of inguinal testicular torsion in a female with complete androgen insensitivity syndrome. ( 21998027 )
2012
65
A case of complete androgen insensitivity syndrome with a novel androgen receptor mutation. ( 23329762 )
2012
66
A large deletion/insertion-induced frameshift mutation of the androgen receptor gene in a family with a familial complete androgen insensitivity syndrome. ( 22487869 )
2012
67
A novel nonsense mutation in the androgen receptor gene causes the complete androgen insensitivity syndrome. ( 21757511 )
2012
68
XY Female with Complete Androgen Insensitivity Syndrome with Bilateral Inguinal Hernia. ( 24293881 )
2012
69
Novel androgen receptor gene mutation in patient with complete androgen insensitivity syndrome. ( 22608796 )
2012
70
Complete androgen insensitivity syndrome with microtia: a rare presentation. ( 21264665 )
2011
71
Androgen-dependent measurements of female genitalia in women with complete androgen insensitivity syndrome. ( 21197679 )
2011
72
Complete androgen insensitivity syndrome: an anatomic evaluation and sexual function questionnaire pilot study. ( 20719566 )
2011
73
Male gender identity in complete androgen insensitivity syndrome. ( 20358272 )
2011
74
Gonadal structures in a fetus with complete androgen insensitivity syndrome and persistent MA1llerian derivatives: comparison with normal fetal development. ( 20971460 )
2011
75
Hormonal management of complete androgen insensitivity syndrome from adolescence onward. ( 22156544 )
2011
76
Clinical and genetic characterization of complete androgen insensitivity syndrome in a Chinese family. ( 21710452 )
2011
77
A novel Arg615Ser mutation of androgen receptor DNA-binding domain in three 46,XY sisters with complete androgen insensitivity syndrome and bilateral inguinal hernia. ( 20888558 )
2011
78
The case reported as bilateral Sertoli-Leydig cell tumors in a 61-year-old woman with uterine aplasia may instead represent complete androgen insensitivity syndrome. ( 21623193 )
2011
79
A double nucleotide insertion-induced frame-shift mutation of the androgen receptor gene in a familial complete androgen insensitivity syndrome. ( 19815331 )
2010
80
Complete androgen insensitivity syndrome is frequently due to premature stop codons in exon 1 of the androgen receptor gene: an international collaborative report of 13 new mutations. ( 19463997 )
2010
81
Disorders of sexual differentiation: surgical challenges of vaginal reconstruction in complete androgen insensitivity syndrome (CAIS). ( 20336898 )
2010
82
A novel androgen receptor gene mutation in a Chinese patient with complete androgen insensitivity syndrome. ( 20833465 )
2010
83
Familial complete androgen insensitivity syndrome with prostatic tissue and seminal vesicles. ( 20602105 )
2010
84
S578N mutation of the androgen receptor in an adolescent with complete androgen insensitivity syndrome. ( 20819612 )
2010
85
[A novel deletion mutation in AR gene causes complete androgen insensitivity syndrome in a Chinese family]. ( 21154321 )
2010
86
Gender outcome in 46,XY complete androgen insensitivity syndrome: comment on T'Sjoen et al. (2010). ( 20552263 )
2010
87
Female pattern hair loss in complete androgen insensitivity syndrome. ( 20128792 )
2010
88
Torsion of the testicle in a patient with complete androgen insensitivity syndrome. ( 20701524 )
2010
89
Case of sisters with complete androgen insensitivity syndrome and discordant MA1llerian remnants. ( 18930210 )
2009
90
Body composition and metabolic profile in women with complete androgen insensitivity syndrome. ( 19752598 )
2009
91
Concerns regarding gender change to male in a 46,XY child with complete androgen insensitivity syndrome: comment on Kulshreshtha et al. (2009). ( 19705270 )
2009
92
A case of complete androgen insensitivity syndrome presenting with incarcerated inguinal hernia: an immunohistochemical study. ( 19539906 )
2009
93
Identification of a critical novel mutation in the exon 1 of androgen receptor gene in 2 brothers with complete androgen insensitivity syndrome. ( 19023143 )
2009
94
[Mutation analysis of the androgen receptor gene in a complete androgen insensitivity syndrome family]. ( 19953479 )
2009
95
Apparent male gender identity in a patient with complete androgen insensitivity syndrome. ( 19636694 )
2009
96
Comparison of bone mineral density and body proportions between women with complete androgen insensitivity syndrome and women with gonadal dysgenesis. ( 18463105 )
2008
97
[Complete androgen insensitivity syndrome: a novel mutation in a Tunisian family]. ( 18462702 )
2008
98
Novel mutation in the ligand-binding domain of the androgen receptor gene (l790p) associated with complete androgen insensitivity syndrome. ( 18097502 )
2008
99
Complete Androgen Insensitivity Syndrome. ( 18760072 )
2008
100
In-vitro characterization of androgen receptor mutations associated with complete androgen insensitivity syndrome reveals distinct functional deficits. ( 18577874 )
2008
101
A novel mutation c.118delA in exon 1 of the androgen receptor gene resulting in complete androgen insensitivity syndrome within a large family. ( 17714709 )
2008
102
Complete androgen insensitivity syndrome--a review. ( 19064222 )
2008
103
Familial complete androgen insensitivity syndrome (Morris syndrome or testicular feminization syndrome) in 2 sisters. ( 18418092 )
2008
104
Primary amenorrhea in a young Polish woman with complete androgen insensitivity syndrome and Sertoli-Leydig cell tumor: identification of a new androgen receptor gene mutation and evidence of aromatase hyperactivity and apoptosis dysregulation within the tumor. ( 17852420 )
2007
105
Normalization of the vagina by dilator treatment alone in Complete Androgen Insensitivity Syndrome and Mayer-Rokitansky-Kuster-Hauser Syndrome. ( 17449508 )
2007
106
Conjunctival mucin deficiency in complete androgen insensitivity syndrome (CAIS). ( 17120009 )
2007
107
Complete androgen insensitivity syndrome: report of a case with solitary pelvic kidney. ( 16604972 )
2006
108
Five novel androgen receptor gene mutations associated with complete androgen insensitivity syndrome. ( 16470553 )
2006
109
Puberty in subjects with complete androgen insensitivity syndrome. ( 16491011 )
2006
110
A novel androgen receptor mutation resulting in complete androgen insensitivity syndrome and bilateral Leydig cell hyperplasia. ( 16582414 )
2006
111
Complete androgen insensitivity syndrome in a black South African family: a clinical and molecular investigation. ( 17229664 )
2006
112
Testicular development in the complete androgen insensitivity syndrome. ( 16400621 )
2006
113
An uncommon large deletion in the androgen-receptor gene in a XY female with complete androgen insensitivity syndrome. ( 16794370 )
2006
114
R831X mutation of the androgen receptor gene in an adolescent with complete androgen insensitivity syndrome and bilateral testicular hamartomata. ( 16950754 )
2006
115
Complete androgen insensitivity syndrome in an X Y female. ( 16899193 )
2006
116
Complete androgen insensitivity syndrome: the role of the endocrine surgeon. ( 15869141 )
2005
117
Complete androgen insensitivity syndrome with persistent Mullerian derivatives: a case report. ( 16091340 )
2005
118
Leydig cell tumor in an elderly patient with complete androgen insensitivity syndrome. ( 15721441 )
2005
119
Treatment dilemmas after gonadectomy in complete androgen insensitivity syndrome. ( 16263555 )
2005
120
Complete androgen insensitivity syndrome caused by the R855H mutation in the androgen receptor gene. ( 15813610 )
2005
121
Distributional map of the terminal and sub-terminal sugar residues of the glycoconjugates in the prepubertal and postpubertal testis of a subject affected by complete androgen insensitivity syndrome (Morris's syndrome): lectin histochemical study. ( 14702164 )
2004
122
Novel androgen receptor gene mutations in Australian patients with complete androgen insensitivity syndrome. ( 14974091 )
2004
123
Residual activity of mutant androgen receptors explains wolffian duct development in the complete androgen insensitivity syndrome. ( 15531547 )
2004
124
Bilateral orchiectomy for the surgical treatment of complete androgen insensitivity syndrome: patient outcome after 1 year of follow-up. ( 12855103 )
2003
125
Psychological outcomes and gender-related development in complete androgen insensitivity syndrome. ( 12710824 )
2003
126
Novel point mutations in complete androgen insensitivity syndrome with incomplete mA1llerian regression: two Taiwanese patients. ( 13680382 )
2003
127
Complete androgen insensitivity syndrome due to X chromosome inversion: a clinical report. ( 12838569 )
2003
128
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. ( 14635106 )
2003
129
Is complete androgen insensitivity syndrome associated with alterations in the meibomian gland and ocular surface? ( 12883343 )
2003
130
Sexual function in women with complete androgen insensitivity syndrome. ( 12849818 )
2003
131
Characterization of a novel receptor mutation A->T at exon 4 in complete androgen insensitivity syndrome and a carrier sibling via bidirectional polymorphism sequence analysis. ( 11744994 )
2002
132
Long-term perspectives for 46,XY patients affected by complete androgen insensitivity syndrome or congenital micropenis. ( 12428209 )
2002
133
Two de novo mutations in the AR gene cause the complete androgen insensitivity syndrome in a pair of monozygotic twins. ( 11889162 )
2002
134
Persistence of MA1llerian remnants in complete androgen insensitivity syndrome. ( 12503865 )
2002
135
Complete androgen insensitivity syndrome: effect on human meibomian gland secretions. ( 12470144 )
2002
136
Complete androgen insensitivity syndrome caused by a novel mutation in the ligand-binding domain of the androgen receptor: functional characterization. ( 12213902 )
2002
137
Transition C2718T in the AR gene, resulting in generation of a termination codon and truncated form of the androgen receptor, causes complete androgen insensitivity syndrome. ( 12084976 )
2002
138
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. ( 11600534 )
2001
139
Androgen receptor gene mutation associated with complete androgen insensitivity syndrome and Sertoli cell adenoma. ( 11293168 )
2001
140
A 19 year old with complete androgen insensitivity syndrome and juvenile fibroadenoma of the breast. ( 11843857 )
2001
141
Novel amino acid substitutional mutation, tyrosine-739-aspartic acid, in the androgen receptor gene in complete androgen insensitivity syndrome. ( 11380707 )
2001
142
Hamartoma in a pubertal patient with complete androgen insensitivity syndrome and R(831)X mutation of the androgen receptor gene. ( 10899520 )
2000
143
Androgen receptor gene mutation identified by PCR-SSCP and sequencing in 4 patients with complete androgen insensitivity syndrome. ( 10834333 )
2000
144
Complete androgen insensitivity syndrome: long-term medical, surgical, and psychosexual outcome. ( 10946863 )
2000
145
A novel mutation in the CAG triplet region of exon 1 of androgen receptor gene causes complete androgen insensitivity syndrome in a large kindred. ( 10323385 )
1999
146
Bilateral MA1llerian duct remnants. A scanning electron microscope study in a case of complete androgen insensitivity syndrome. ( 15512392 )
1999
147
A novel E153X point mutation in the androgen receptor gene in a patient with complete androgen insensitivity syndrome. ( 11225909 )
1999
148
A substitutional mutation in the DNA binding domain of the androgen receptor causes complete androgen insensitivity syndrome. ( 10599549 )
1999
149
Altered bone mineral density in patients with complete androgen insensitivity syndrome. ( 9973670 )
1998
150
A new missense substitution at a mutational hot spot of the androgen receptor in siblings with complete androgen insensitivity syndrome. ( 9554754 )
1998
151
One additional mutation at exon A amplifies thermolability of androgen receptor in a case with complete androgen insensitivity syndrome. ( 9610419 )
1998
152
Shortage of glutamine (CAG) homopolymeric repeats suppresses the expression of the androgen receptor in familial cases with complete androgen insensitivity syndrome. ( 9526703 )
1998
153
Complete androgen insensitivity syndrome. Molecular characterization in two Chinese women. ( 9252933 )
1997
154
DNA analysis of the androgen receptor gene in two cases with complete androgen insensitivity syndrome. ( 9255042 )
1997
155
Wide variation in androgen receptor dysfunction in complete androgen insensitivity syndrome. ( 9328206 )
1997
156
A(870)E mutation of the androgen receptor gene in a patient with complete androgen insensitivity syndrome and Sertoli cell tumor. ( 9332480 )
1997
157
Laparoscopic gonadectomy in a woman with complete androgen insensitivity syndrome. ( 9050649 )
1996
158
Successful diagnosis and surgical laparoscopic treatment of a woman with complete androgen insensitivity syndrome. ( 9132308 )
1996
159
Complete androgen insensitivity syndrome due to a new frameshift deletion in exon 4 of the androgen receptor gene: functional analysis of the mutant receptor. ( 7649349 )
1995
160
Genetic counselling in complete androgen insensitivity syndrome: trinucleotide repeat polymorphisms, single-strand conformation polymorphism and direct detection of two novel mutations in the androgen receptor gene. ( 7641413 )
1995
161
Premature termination mutation (772Glu-->stop) in the hormone-binding domain of the androgen receptor in a patient with the receptor-negative form of complete androgen insensitivity syndrome. ( 8574287 )
1995
162
Leu-676-Pro mutation of the androgen receptor causes complete androgen insensitivity syndrome in a large Hutterite kindred. ( 7537149 )
1995
163
An unusual presentation of complete androgen insensitivity syndrome in general practice. ( 7715876 )
1995
164
Gonadotropin regulation during puberty in complete androgen insensitivity syndrome with testicles in situ. ( 7698719 )
1994
165
Laparoscopic gonadectomy in complete androgen insensitivity syndrome. ( 9050539 )
1994
166
Complete androgen insensitivity syndrome associated with a de novo mutation of the androgen receptor gene detected by single strand conformation polymorphism. ( 8096390 )
1993
167
A new mutation within the deoxyribonucleic acid-binding domain of the androgen receptor gene in a family with complete androgen insensitivity syndrome. ( 8224266 )
1993
168
An exonic point mutation creates a MaeIII site in the androgen receptor gene of a family with complete androgen insensitivity syndrome. ( 8103398 )
1993
169
Point mutation in the steroid-binding domain of the androgen receptor gene in a family with complete androgen insensitivity syndrome (CAIS). ( 1487249 )
1992
170
A single amino acid substitution (Met-786-->Val) in the steroid- binding domain of human androgen receptor leads to complete androgen insensitivity syndrome. ( 1569163 )
1992
171
A unique point mutation in the androgen receptor gene in a family with complete androgen insensitivity syndrome. ( 1426313 )
1992
172
MA1llerian remnants in complete androgen insensitivity syndrome. ( 1358839 )
1992
173
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. ( 3186717 )
1988
174
The modulating effect of estrogens on luteinizing hormone release in complete androgen insensitivity syndrome before and after gonadectomy and cyclic steroid application. ( 2444447 )
1987
175
Failure of the mA1llerian regression factor in two patients with complete androgen insensitivity syndrome. ( 3118446 )
1987
176
The presence of MA1llerian remnants in the complete androgen insensitivity syndrome: a steroid hormone-mediated defect? ( 3753943 )
1986
177
Complete androgen insensitivity syndrome characterized by increased concentration of a normal androgen receptor in genital skin fibroblasts. ( 3088020 )
1986

Variations for Complete Androgen Insensitivity Syndrome

Expression for Complete Androgen Insensitivity Syndrome

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

Pathways for Complete Androgen Insensitivity Syndrome

GO Terms for Complete Androgen Insensitivity Syndrome

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

(showing 3, show less)
id Name GO ID Score Top Affiliating Genes
1 extracellular exosome GO:0070062 9.76 IGF2 IGFBP2 IGFBP3 LYVE1 MUC1 MUC5AC
2 extracellular region GO:0005576 9.28 ALPPL2 CGA IGF2 IGFBP2 IGFBP3 MUC1
3 Golgi lumen GO:0005796 9.13 CGA MUC1 MUC5AC

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

(showing 6, show less)
id Name GO ID Score Top Affiliating Genes
1 positive regulation of activated T cell proliferation GO:0042104 9.37 IGF2 IGFBP2
2 positive regulation of MAPK cascade GO:0043410 9.33 AR IGF2 IGFBP3
3 sex differentiation GO:0007548 9.32 AR SRY
4 positive regulation of insulin-like growth factor receptor signaling pathway GO:0043568 9.26 AR IGFBP3
5 regulation of insulin-like growth factor receptor signaling pathway GO:0043567 8.96 IGFBP2 IGFBP3
6 prostate gland growth GO:0060736 8.62 AR CYP19A1

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

(showing 5, show less)
id Name GO ID Score Top Affiliating Genes
1 steroid binding GO:0005496 9.32 AR SHBG
2 insulin-like growth factor binding GO:0005520 9.26 IGFBP2 IGFBP3
3 insulin-like growth factor I binding GO:0031994 9.16 IGFBP2 IGFBP3
4 insulin-like growth factor II binding GO:0031995 8.96 IGFBP2 IGFBP3
5 androgen binding GO:0005497 8.62 AR SHBG

Sources for Complete Androgen Insensitivity Syndrome

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16 ExPASy
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65 SNOMED-CT via HPO
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