MCID: CMP034
MIFTS: 47

Complete Androgen Insensitivity Syndrome

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 54 60 30
Cais 54 60
Androgen Insensitivity Syndrome, Complete 54
Androgen Insensitivity Syndrome Complete 56
Complete Androgen Resistance Syndrome 60
Testicular Feminization 74

Characteristics:

Orphanet epidemiological data:

60
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 : 54 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 breast, uterus and testes, and related phenotypes are cryptorchidism and primary amenorrhea

Wikipedia : 77 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 132)
# Related Disease Score Top Affiliating Genes
1 androgen insensitivity syndrome 32.6 AR CGA LYVE1 SHBG SRY
2 cystadenofibroma 30.3 MUC1 SRY
3 androgen insensitivity, partial 29.5 AR CYP19A1 LYVE1 SHBG
4 prostate cancer 28.3 AR CYP19A1 IGF2 IGFBP2 IGFBP3 LYVE1
5 vitreoretinochoroidopathy 11.3
6 inguinal hernia 10.4
7 47,xyy 10.4 IGFBP3 SRY
8 anorchia 10.3 CGA SRY
9 apocrine adenocarcinoma 10.3 AR MUC1
10 acid-labile subunit deficiency 10.3 IGF2 IGFBP3
11 paget disease, extramammary 10.3 AR MUC1
12 orbital cyst 10.3 IGF2 PTGDS
13 reticulum cell sarcoma 10.3 LYVE1 MUC1
14 ocular hyperemia 10.3 IGF2 IGFBP3
15 mayer-rokitansky-kuster-hauser syndrome 10.3
16 leydig cell tumor 10.3
17 postmenopausal atrophic vaginitis 10.3 AR SHBG
18 pseudovaginal perineoscrotal hypospadias 10.3 AR CGA IGFBP3
19 hermaphroditism 10.2 AR CGA SRY
20 papilloma of choroid plexus 10.2 IGF2 MUC1
21 fetal macrosomia 10.2 IGF2 IGFBP3
22 gonadal dysgenesis 10.2
23 sertoli-leydig cell tumor 10.2
24 marasmus 10.2 IGFBP3 SHBG
25 cerebral primitive neuroectodermal tumor 10.2 LYVE1 MUC1
26 seborrheic dermatitis 10.2 CGA SHBG
27 sebaceous gland disease 10.2 AR SHBG
28 rheumatoid arthritis 10.2
29 prostatic hyperplasia, benign 10.2 AR SHBG
30 hemangiopericytoma, malignant 10.1 IGF2 MUC1
31 lipoid congenital adrenal hyperplasia 10.1
32 amenorrhea 10.1
33 seminoma 10.1
34 adenoma 10.1
35 arthritis 10.1
36 47, xxy 10.1 AR IGFBP3 SHBG
37 breast mucoepidermoid carcinoma 10.1 MUC1 MUC5AC
38 solid adenocarcinoma with mucin production 10.1 MUC1 MUC5AC
39 testicular cancer 10.1 AR CGA SHBG
40 bile duct mucoepidermoid carcinoma 10.1 MUC1 MUC5AC
41 chronic ethmoiditis 10.1 MUC1 MUC5AC
42 male reproductive organ cancer 10.1 AR IGFBP3 SHBG
43 male reproductive system disease 10.1 AR IGFBP3 SHBG
44 bile duct cystadenocarcinoma 10.1 MUC1 MUC5AC
45 chronic maxillary sinusitis 10.1 LYVE1 MUC5AC
46 mucinous ovarian cystadenoma 10.1 MUC1 MUC5AC
47 transsexualism 10.1 AR CYP19A1
48 filamentary keratitis 10.1 MUC1 MUC5AC
49 gender identity disorder 10.1 AR CYP19A1
50 oocyte maturation defect 1 10.1 CGA 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:

60 33 (show all 17)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 cryptorchidism 60 33 hallmark (90%) Very frequent (99-80%) HP:0000028
2 primary amenorrhea 60 33 hallmark (90%) Very frequent (99-80%) HP:0000786
3 nephrolithiasis 60 33 hallmark (90%) Very frequent (99-80%) HP:0000787
4 male pseudohermaphroditism 60 33 hallmark (90%) Very frequent (99-80%) HP:0000037
5 infertility 60 33 hallmark (90%) Very frequent (99-80%) HP:0000789
6 aplasia of the uterus 60 33 hallmark (90%) Very frequent (99-80%) HP:0000151
7 absent axillary hair 60 33 hallmark (90%) Very frequent (99-80%) HP:0002221
8 absent pubic hair 60 33 hallmark (90%) Very frequent (99-80%) HP:0002555
9 aplasia/hypoplasia of the fallopian tube 60 33 hallmark (90%) Very frequent (99-80%) HP:0008655
10 inguinal hernia 60 33 frequent (33%) Frequent (79-30%) HP:0000023
11 osteoporosis 60 33 frequent (33%) Frequent (79-30%) HP:0000939
12 tremor 60 33 occasional (7.5%) Occasional (29-5%) HP:0001337
13 sensory neuropathy 60 33 occasional (7.5%) Occasional (29-5%) HP:0000763
14 gynecomastia 60 33 occasional (7.5%) Occasional (29-5%) HP:0000771
15 testicular gonadoblastoma 60 33 occasional (7.5%) Occasional (29-5%) HP:0000030
16 muscle spasm 33 occasional (7.5%) HP:0003394
17 muscle cramps 60 Occasional (29-5%)

MGI Mouse Phenotypes related to Complete Androgen Insensitivity Syndrome:

47
# 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

Genetic tests related to Complete Androgen Insensitivity Syndrome:

# Genetic test Affiliating Genes
1 Complete Androgen Insensitivity Syndrome 30

Anatomical Context for Complete Androgen Insensitivity Syndrome

MalaCards organs/tissues related to Complete Androgen Insensitivity Syndrome:

42
Breast, Uterus, Testes, Cervix, Prostate, Heart, Bone

Publications for Complete Androgen Insensitivity Syndrome

Articles related to Complete Androgen Insensitivity Syndrome:

(show top 50) (show all 230)
# Title Authors Year
1
Severe forms of complete androgen insensitivity syndrome caused by a p.Q65X novel mutation in androgen receptor: Clinical manifestations, imaging findings and molecular genetics. ( 30742848 )
2019
2
Laparoscopic Bilateral Gonadectomy and Inguinal Hernia Repair with Mesh for Complete Androgen Insensitivity Syndrome: A Case Report. ( 30825542 )
2019
3
Complete Androgen Insensitivity Syndrome: Successful Laparoscopic Management. ( 30956493 )
2019
4
A novel missense mutation in the androgen receptor gene causes the complete androgen insensitivity syndrome. ( 30964356 )
2019
5
Different Clinical Presentations and Management in Complete Androgen Insensitivity Syndrome (CAIS). ( 30970592 )
2019
6
Genetic Analysis Reveals Complete Androgen Insensitivity Syndrome in Female Children Surgically Treated for Inguinal Hernia. ( 31012339 )
2019
7
Pain Relieving Effect of-NSAIDs-CAIs Hybrid Molecules: Systemic and Intra-Articular Treatments against Rheumatoid Arthritis. ( 31003542 )
2019
8
Mental Health and Disorders of Sex Development/Intersex Conditions in Iranian Culture: Congenital Adrenal Hyperplasia, 5-α Reductase Deficiency-Type 2, and Complete Androgen Insensitivity Syndrome. ( 29294229 )
2018
9
A rare polypyrimidine tract mutation in the androgen receptor gene results in complete androgen insensitivity syndrome. ( 28857053 )
2018
10
Mismatch between fetal sexing and birth phenotype: a case of complete androgen insensitivity syndrome. ( 29118296 )
2018
11
Aberrant breast tissue in complete androgen insensitivity syndrome. ( 29388223 )
2018
12
Identification of 4 novel mutations of androgen receptor gene in 8 Chinese families with complete androgen insensitivity syndrome. ( 29693241 )
2018
13
Complete androgen insensitivity syndrome caused by c.1769-1G > C mutation and activation of a cryptic splice acceptor site in the androgen receptor gene. ( 29859233 )
2018
14
Cognitive abilities in women with complete androgen insensitivity syndrome and women with gonadal dysgenesis. ( 29884451 )
2018
15
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
16
Oestrogen versus androgen in hormone-replacement therapy for complete androgen insensitivity syndrome: a multicentre, randomised, double-dummy, double-blind crossover trial. ( 30075954 )
2018
17
Complete androgen insensitivity syndrome in a young woman with metabolic disorder and diabetes: A case report. ( 30113450 )
2018
18
Complete Androgen Insensitivity Syndrome due to Mutations in the DNA-Binding Domain of the Human Androgen Receptor Gene. ( 30165367 )
2018
19
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
20
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
21
Uterus Transplantation in patients with Complete Androgen Insensitivity Syndrome (CAIS): why CAIS cannot be considered as an indication in France. ( 30553052 )
2018
22
Two Korean girls with complete androgen insensitivity syndrome diagnosed in infancy. ( 30599484 )
2018
23
Novel Variant of the Androgen Receptor Gene in a Patient With Complete Androgen Insensitivity Syndrome and Polyorchidism. ( 30705665 )
2018
24
Discovery of Novel Nonsteroidal Anti-Inflammatory Drugs and Carbonic Anhydrase Inhibitors Hybrids (NSAIDs-CAIs) for the Management of Rheumatoid Arthritis. ( 29746127 )
2018
25
Mental health and sexual function in CAIS: context beyond sex hormones. ( 30075955 )
2018
26
Static computer-aided implant surgery (s-CAIS) analysing patient-reported outcome measures (PROMs), economics and surgical complications: A systematic review. ( 30328203 )
2018
27
Sexual orientation and medical history among Iranian people with Complete Androgen Insensitivity Syndrome and Congenital Adrenal Hyperplasia. ( 27998513 )
2017
28
Frequency of gonadal tumours in complete androgen insensitivity syndrome (CAIS): A retrospective case-series analysis. ( 28351649 )
2017
29
Do sex differences in CEOAEs and 2D:4D ratios reflect androgen exposure? A study in women with complete androgen insensitivity syndrome. ( 28413602 )
2017
30
Bone mineral density in complete androgen insensitivity syndrome and the timing of gonadectomy. ( 28493277 )
2017
31
Gonadal Surgery in Complete Androgen Insensitivity Syndrome: A Debate. ( 28609774 )
2017
32
Hormone replacement treatment choices in complete androgen insensitivity syndrome: an audit of an adult clinic. ( 28615185 )
2017
33
Bone Mineral Density in Women Living with Complete Androgen Insensitivity Syndrome and Intact Testes or Removed Gonads. ( 28715798 )
2017
34
Update on the Pathophysiology and Risk Factors for the Development of Malignant Testicular Germ Cell Tumors in Complete Androgen Insensitivity Syndrome. ( 28719895 )
2017
35
Gonadectomy in Complete Androgen Insensitivity Syndrome: Why and When? ( 28719904 )
2017
36
A recurrent synonymous mutation in the human androgen receptor gene causing complete androgen insensitivity syndrome. ( 28743543 )
2017
37
Increased psychiatric morbidity in women with complete androgen insensitivity syndrome or complete gonadal dysgenesis. ( 28867417 )
2017
38
Clinical and genetic characterization of six cases with complete androgen insensitivity syndrome in China. ( 28947719 )
2017
39
Prenatal Diagnosis of Twin Fetuses with a Novel AR Gene Mutation in a Chinese Family of Complete Androgen Insensitivity Syndrome. ( 29206494 )
2017
40
Complete androgen insensitivity syndrome and anti-Müllerian hormone levels before and after laparoscopic gonadectomy. ( 30254896 )
2017
41
Design and Synthesis of Novel Nonsteroidal Anti-Inflammatory Drugs and Carbonic Anhydrase Inhibitors Hybrids (NSAIDs-CAIs) for the Treatment of Rheumatoid Arthritis. ( 28075587 )
2017
42
[Analysis of AR gene mutation in a family affected with complete androgen insensitivity syndrome using long chain RT-PCR]. ( 28186600 )
2017
43
Complete androgen insensitivity syndrome with concomitant seminoma and Sertoli cell adenoma: an unusual combination. ( 28039344 )
2016
44
Laparoscopic Gonadectomy and Hernia Repair for Complete Androgen Insensitivity Syndrome (CAIS): A Rare Cause of Primary Amenorrhea. ( 27298532 )
2016
45
Neural Activation During Mental Rotation in Complete Androgen Insensitivity Syndrome: The Influence of Sex Hormones and Sex Chromosomes. ( 25452569 )
2016
46
Timing of Gonadectomy in Patients with Complete Androgen Insensitivity Syndrome-Current Recommendations and Future Directions. ( 26428189 )
2016
47
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 )
2016
48
The contribution of the androgen receptor (AR) in human spatial learning and memory: A study in women with complete androgen insensitivity syndrome (CAIS). ( 26522496 )
2016
49
Mutational analysis of the androgen receptor gene in two Chinese families with complete androgen insensitivity syndrome. ( 27284311 )
2016
50
Complete androgen insensitivity syndrome caused by a deep intronic pseudoexon-activating mutation in the androgen receptor gene. ( 27609317 )
2016

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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75 UMLS via Orphanet
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