CAIS
MCID: CMP034
MIFTS: 48

Complete Androgen Insensitivity Syndrome (CAIS)

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

Aliases & Classifications for Complete Androgen Insensitivity Syndrome

MalaCards integrated aliases for Complete Androgen Insensitivity Syndrome:

Name: Complete Androgen Insensitivity Syndrome 53 59
Cais 53 59
Androgen Insensitivity Syndrome, Complete 53
Androgen Insensitivity Syndrome Complete 55
Complete Androgen Resistance Syndrome 59
Testicular Feminization 73

Characteristics:

Orphanet epidemiological data:

59
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 : 53 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.

MalaCards based summary : Complete Androgen Insensitivity Syndrome, also known as cais, is related to androgen insensitivity syndrome and cystadenofibroma. 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 breast, and related phenotypes are tremor and inguinal hernia

Wikipedia : 76 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:

(show top 50) (show all 116)
# Related Disease Score Top Affiliating Genes
1 androgen insensitivity syndrome 32.6 AR CGA LYVE1 SHBG SRY
2 cystadenofibroma 30.2 MUC1 SRY
3 prostate cancer 28.8 AR CYP19A1 IGF2 IGFBP2 IGFBP3 LYVE1
4 vitreoretinochoroidopathy 11.2
5 inguinal hernia 10.4
6 leydig cell tumor 10.3
7 apocrine adenocarcinoma 10.2 AR MUC1
8 mayer-rokitansky-kuster-hauser syndrome 10.2
9 gonadal dysgenesis 10.2
10 sertoli-leydig cell tumor 10.2
11 paget disease, extramammary 10.2 AR MUC1
12 reticulum cell sarcoma 10.2 LYVE1 MUC1
13 anorchia 10.2 CGA SRY
14 acid-labile subunit deficiency 10.2 IGF2 IGFBP3
15 orbital cyst 10.2 IGF2 PTGDS
16 47,xyy 10.2 IGFBP3 SRY
17 ocular hyperemia 10.2 IGF2 IGFBP3
18 papilloma of choroid plexus 10.2 IGF2 MUC1
19 postmenopausal atrophic vaginitis 10.2 AR SHBG
20 cerebral primitive neuroectodermal tumor 10.2 LYVE1 MUC1
21 pseudovaginal perineoscrotal hypospadias 10.2 AR CGA IGFBP3
22 fetal macrosomia 10.1 IGF2 IGFBP3
23 seborrheic dermatitis 10.1 CGA SHBG
24 lipoid congenital adrenal hyperplasia 10.1
25 amenorrhea 10.1
26 seminoma 10.1
27 adenoma 10.1
28 marasmus 10.1 IGFBP3 SHBG
29 hermaphroditism 10.1 AR CGA SRY
30 sebaceous gland disease 10.1 AR SHBG
31 rheumatoid arthritis 10.1
32 hemangiopericytoma, malignant 10.1 IGF2 MUC1
33 prostatic hyperplasia, benign 10.1 AR SHBG
34 breast mucoepidermoid carcinoma 10.1 MUC1 MUC5AC
35 solid adenocarcinoma with mucin production 10.1 MUC1 MUC5AC
36 bile duct mucoepidermoid carcinoma 10.1 MUC1 MUC5AC
37 chronic ethmoiditis 10.1 MUC1 MUC5AC
38 bile duct cystadenocarcinoma 10.1 MUC1 MUC5AC
39 mucinous ovarian cystadenoma 10.1 MUC1 MUC5AC
40 filamentary keratitis 10.1 MUC1 MUC5AC
41 testicular cancer 10.1 AR CGA SHBG
42 47, xxy 10.1 AR IGFBP3 SHBG
43 biliary papillomatosis 10.1 MUC1 MUC5AC
44 ethmoid sinusitis 10.1 MUC1 MUC5AC
45 colloid carcinoma of the pancreas 10.1 MUC1 MUC5AC
46 male reproductive organ cancer 10.1 AR IGFBP3 SHBG
47 chronic maxillary sinusitis 10.1 LYVE1 MUC5AC
48 male reproductive system disease 10.1 AR IGFBP3 SHBG
49 limbal stem cell deficiency 10.1 MUC1 MUC5AC
50 transsexualism 10.0 AR CYP19A1

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:

59 32 (show all 16)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 tremor 59 32 occasional (7.5%) Occasional (29-5%) HP:0001337
2 inguinal hernia 59 32 frequent (33%) Frequent (79-30%) HP:0000023
3 osteoporosis 59 32 frequent (33%) Frequent (79-30%) HP:0000939
4 sensory neuropathy 59 32 occasional (7.5%) Occasional (29-5%) HP:0000763
5 cryptorchidism 59 32 hallmark (90%) Very frequent (99-80%) HP:0000028
6 primary amenorrhea 59 32 hallmark (90%) Very frequent (99-80%) HP:0000786
7 muscle cramps 59 32 occasional (7.5%) Occasional (29-5%) HP:0003394
8 nephrolithiasis 59 32 hallmark (90%) Very frequent (99-80%) HP:0000787
9 gynecomastia 59 32 occasional (7.5%) Occasional (29-5%) HP:0000771
10 male pseudohermaphroditism 59 32 hallmark (90%) Very frequent (99-80%) HP:0000037
11 infertility 59 32 hallmark (90%) Very frequent (99-80%) HP:0000789
12 aplasia of the uterus 59 32 hallmark (90%) Very frequent (99-80%) HP:0000151
13 testicular gonadoblastoma 59 32 occasional (7.5%) Occasional (29-5%) HP:0000030
14 absent axillary hair 59 32 hallmark (90%) Very frequent (99-80%) HP:0002221
15 aplasia/hypoplasia of the fallopian tube 59 32 hallmark (90%) Very frequent (99-80%) HP:0008655
16 absent pubic hair 59 32 hallmark (90%) Very frequent (99-80%) HP:0002555

MGI Mouse Phenotypes related to Complete Androgen Insensitivity Syndrome:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 endocrine/exocrine gland MP:0005379 9.7 AR CGA CYP19A1 IGF2 IGFBP3 NR1H2
2 immune system MP:0005387 9.56 AR CYP19A1 IGF2 IGFBP2 LYVE1 MUC5AC
3 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

Anatomical Context for Complete Androgen Insensitivity Syndrome

MalaCards organs/tissues related to Complete Androgen Insensitivity Syndrome:

41
Uterus, Testes, Breast, Cervix, Ovary, Prostate, Heart

Publications for Complete Androgen Insensitivity Syndrome

Articles related to Complete Androgen Insensitivity Syndrome:

(show top 50) (show all 219)
# Title Authors Year
1
Identification of 4 novel mutations of androgen receptor gene in 8 Chinese families with complete androgen insensitivity syndrome. ( 29693241 )
2018
2
Complete androgen insensitivity syndrome caused by c.1769-1Ga8^>a8^C mutation and activation of a cryptic splice acceptor site in the androgen receptor gene. ( 29859233 )
2018
3
Cognitive abilities in women with complete androgen insensitivity syndrome and women with gonadal dysgenesis. ( 29884451 )
2018
4
Mental Health and Disorders of Sex Development/Intersex Conditions in Iranian Culture: Congenital Adrenal Hyperplasia, 5-I+ Reductase Deficiency-Type 2, and Complete Androgen Insensitivity Syndrome. ( 29294229 )
2018
5
Aberrant breast tissue in complete androgen insensitivity syndrome. ( 29388223 )
2018
6
Functional and Structural Study of the Amino Acid Substitution in a Novel Familial Androgen Receptor Mutation (W752G) Responsible for Complete Androgen Insensitivity Syndrome. ( 30064134 )
2018
7
Oestrogen versus androgen in hormone-replacement therapy for complete androgen insensitivity syndrome: a multicentre, randomised, double-dummy, double-blind crossover trial. ( 30075954 )
2018
8
Complete androgen insensitivity syndrome in a young woman with metabolic disorder and diabetes: A case report. ( 30113450 )
2018
9
Complete Androgen Insensitivity Syndrome due to Mutations in the DNA-Binding Domain of the Human Androgen Receptor Gene. ( 30165367 )
2018
10
Living with permanent infertility: A German study on attitudes toward motherhood in individuals with Complete Androgen Insensitivity Syndrome (CAIS) and Mayer-Rokitansky-Küster-Hauser Syndrome (MRKHS). ( 30362901 )
2018
11
Late diagnosis of complete androgen insensitivity syndrome and transmission/carriers of the disease in a family with mutation c.2495G>T p.(Arg832Leu) in exon 7 of the androgen receptor gene: genetic, clinical and ethical aspects. ( 30401990 )
2018
12
Uterus Transplantation in patients with Complete Androgen Insensitivity Syndrome (CAIS): why CAIS cannot be considered as an indication in France. ( 30553052 )
2018
13
Discovery of Novel Nonsteroidal Anti-Inflammatory Drugs and Carbonic Anhydrase Inhibitors Hybrids (NSAIDs-CAIs) for the Management of Rheumatoid Arthritis. ( 29746127 )
2018
14
Mental health and sexual function in CAIS: context beyond sex hormones. ( 30075955 )
2018
15
Static computer-aided implant surgery (s-CAIS) analysing patient-reported outcome measures (PROMs), economics and surgical complications: A systematic review. ( 30328203 )
2018
16
Update on the Pathophysiology and Risk Factors for the Development of Malignant Testicular Germ Cell Tumors in Complete Androgen Insensitivity Syndrome. ( 28719895 )
2017
17
A rare polypyrimidine tract mutation in the androgen receptor gene results in complete androgen insensitivity syndrome. ( 28857053 )
2017
18
[Analysis of AR gene mutation in a family affected with complete androgen insensitivity syndrome using long chain RT-PCR]. ( 28186600 )
2017
19
Hormone replacement treatment choices in complete androgen insensitivity syndrome: an audit of an adult clinic. ( 28615185 )
2017
20
Frequency of gonadal tumours in complete androgen insensitivity syndrome (CAIS): A retrospective case-series analysis. ( 28351649 )
2017
21
Bone Mineral Density in Women Living with Complete Androgen Insensitivity Syndrome and Intact Testes or Removed Gonads. ( 28715798 )
2017
22
Prenatal Diagnosis of Twin Fetuses with a Novel AR Gene Mutation in a Chinese Family of Complete Androgen Insensitivity Syndrome. ( 29206494 )
2017
23
Increased psychiatric morbidity in women with complete androgen insensitivity syndrome or complete gonadal dysgenesis. ( 28867417 )
2017
24
Clinical and genetic characterization of six cases with complete androgen insensitivity syndrome in China. ( 28947719 )
2017
25
Bone mineral density in complete androgen insensitivity syndrome and the timing of gonadectomy. ( 28493277 )
2017
26
Gonadal Surgery in Complete Androgen Insensitivity Syndrome: A Debate. ( 28609774 )
2017
27
Sexual orientation and medical history among Iranian people with Complete Androgen Insensitivity Syndrome and Congenital Adrenal Hyperplasia. ( 27998513 )
2017
28
A recurrent synonymous mutation in the human androgen receptor gene causing complete androgen insensitivity syndrome. ( 28743543 )
2017
29
Mismatch between fetal sexing and birth phenotype: aA case of complete androgen insensitivity syndrome. ( 29118296 )
2017
30
Do sex differences in CEOAEs and 2D:4D ratios reflect androgen exposure? A study in women with complete androgen insensitivity syndrome. ( 28413602 )
2017
31
Gonadectomy in Complete Androgen Insensitivity Syndrome: Why and When? ( 28719904 )
2017
32
Complete androgen insensitivity syndrome and anti-Müllerian hormone levels before and after laparoscopic gonadectomy. ( 30254896 )
2017
33
Design and Synthesis of Novel Nonsteroidal Anti-Inflammatory Drugs and Carbonic Anhydrase Inhibitors Hybrids (NSAIDs-CAIs) for the Treatment of Rheumatoid Arthritis. ( 28075587 )
2017
34
Laparoscopic Gonadectomy and Hernia Repair for Complete Androgen Insensitivity Syndrome (CAIS): A Rare Cause of Primary Amenorrhea. ( 27298532 )
2016
35
Complete androgen insensitivity syndrome caused by a deep intronic pseudoexon-activating mutation in the androgen receptor gene. ( 27609317 )
2016
36
Complete Androgen Insensitivity Syndrome in Three Generations of Indian Pedigree. ( 27651630 )
2016
37
Complete androgen insensitivity syndrome or testicular feminization: review of literature based on a case report. ( 28270903 )
2016
38
Mutational analysis of the androgen receptor gene in two Chinese families with complete androgen insensitivity syndrome. ( 27284311 )
2016
39
Complete androgen insensitivity syndrome with concomitant seminoma and Sertoli cell adenoma: an unusual combination. ( 28039344 )
2016
40
Complete androgen insensitivity syndrome associated with bilateral sertoli cell adenomas and unilateral paratesticular leiomyoma: A case report. ( 29090880 )
2016
41
Gender Role, Gender Identity and Sexual Orientation in CAIS ("XY-Women") Compared With Subfertile and Infertile 46,XX Women. ( 26133743 )
2016
42
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
43
Usefulness and role of magnetic resonance imaging in a case of complete androgen insensitivity syndrome. ( 27398128 )
2015
44
Characteristic features of reproductive hormone profiles in late adolescent and adult females with complete androgen insensitivity syndrome. ( 25613104 )
2015
45
Timing of Gonadectomy in Patients with Complete Androgen Insensitivity Syndrome- Current Recommendations and Future Directions. ( 26428189 )
2015
46
A novel mutation of the androgen receptor gene in familial complete androgen insensitivity syndrome. ( 26592841 )
2015
47
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
48
Different types of androgen receptor mutations in patients with complete androgen insensitivity syndrome. ( 25674389 )
2015
49
Chromosomal Study is Must for Prepubertal Girl with Inguinal Hernia: Opportunity to Diagnose Complete Androgen Insensitivity Syndrome. ( 26023570 )
2015
50
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

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:

# Name GO ID Score Top Affiliating Genes
1 extracellular space GO:0005615 9.5 CGA IGF2 IGFBP2 IGFBP3 MUC1 MUC5AC
2 Golgi lumen GO:0005796 9.33 CGA MUC1 MUC5AC
3 extracellular region GO:0005576 9.28 ALPG CGA IGF2 IGFBP2 IGFBP3 MUC1

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

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

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

# 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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