MCID: CMP034
MIFTS: 47

Complete Androgen Insensitivity Syndrome

Categories: Rare 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 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, breast and testes, and related phenotypes are inguinal hernia and cryptorchidism

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 95)
# Related Disease Score Top Affiliating Genes
1 androgen insensitivity syndrome 31.8 AR CGA LYVE1 SHBG SRY
2 cystadenofibroma 30.4 MUC1 SRY
3 sex differentiation disease 28.5 AR CYP19A1 SHBG SRY
4 apocrine adenocarcinoma 10.8 AR MUC1
5 paget disease, extramammary 10.7 AR MUC1
6 reticulum cell sarcoma 10.7 LYVE1 MUC1
7 47,xyy 10.7 IGFBP3 SRY
8 orbital cyst 10.6 IGF2 PTGDS
9 acid-labile subunit deficiency 10.6 IGF2 IGFBP3
10 anorchia 10.6 CGA SRY
11 cerebral primitive neuroectodermal tumor 10.6 LYVE1 MUC1
12 postmenopausal atrophic vaginitis 10.6 AR SHBG
13 prostatic adenoma 10.5 AR SHBG
14 ocular hyperemia 10.5 IGF2 IGFBP3
15 penis agenesis 10.5 AR CGA IGFBP3
16 marasmus 10.5 IGFBP3 SHBG
17 papilloma of choroid plexus 10.5 IGF2 MUC1
18 fetal macrosomia 10.4 IGF2 IGFBP3
19 rhabdoid cancer 10.4 IGF2 MUC1
20 testicular disease 10.4 CGA SRY
21 hemangiopericytoma, malignant 10.4 IGF2 MUC1
22 breast mucoepidermoid carcinoma 10.4 MUC1 MUC5AC
23 bile duct mucoepidermoid carcinoma 10.3 MUC1 MUC5AC
24 chronic ethmoiditis 10.3 MUC1 MUC5AC
25 seborrheic dermatitis 10.3 CGA SHBG
26 bile duct cystadenocarcinoma 10.3 MUC1 MUC5AC
27 hermaphroditism 10.3 SHBG SRY
28 mucinous ovarian cystadenoma 10.3 MUC1 MUC5AC
29 47, xxy 10.3 AR IGFBP3 SHBG
30 filamentary keratitis 10.3 MUC1 MUC5AC
31 biliary papillomatosis 10.3 MUC1 MUC5AC
32 inguinal hernia 10.3
33 male reproductive organ cancer 10.2 AR IGFBP3 SHBG
34 ethmoid sinusitis 10.2 MUC1 MUC5AC
35 colloid carcinoma of the pancreas 10.2 MUC1 MUC5AC
36 leydig cell tumor 10.2
37 limbal stem cell deficiency 10.2 MUC1 MUC5AC
38 meningioma, familial 10.2 IGF2 MUC1 PTGDS
39 wilms tumor 1 10.2 AR IGF2 SRY
40 transsexualism 10.2 AR CYP19A1
41 gender identity disorder 10.2 AR CYP19A1
42 sertoli-leydig cell tumor 10.2
43 gonadal disease 10.1 AR SHBG SRY
44 mammographic density 10.1 CYP19A1 IGFBP3
45 gonadal dysgenesis 10.1
46 adenoma 10.1
47 prostatic hyperplasia, benign 10.1 AR CYP19A1
48 oocyte maturation defect 1 10.1 CGA CYP19A1
49 chronic maxillary sinusitis 10.1 LYVE1 MUC5AC
50 luteoma 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:

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

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 CYP19A1 IGF2 IGFBP3 NR1H2 PTGDS AR
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, Breast, Testes, Cervix, Bone, Skin, Brain

Publications for Complete Androgen Insensitivity Syndrome

Articles related to Complete Androgen Insensitivity Syndrome:

(show top 50) (show all 185)
# 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
Update on the Pathophysiology and Risk Factors for the Development of Malignant Testicular Germ Cell Tumors in Complete Androgen Insensitivity Syndrome. ( 28719895 )
2017
7
A rare polypyrimidine tract mutation in the androgen receptor gene results in complete androgen insensitivity syndrome. ( 28857053 )
2017
8
[Analysis of AR gene mutation in a family affected with complete androgen insensitivity syndrome using long chain RT-PCR]. ( 28186600 )
2017
9
Hormone replacement treatment choices in complete androgen insensitivity syndrome: an audit of an adult clinic. ( 28615185 )
2017
10
Frequency of gonadal tumours in complete androgen insensitivity syndrome (CAIS): A retrospective case-series analysis. ( 28351649 )
2017
11
Bone Mineral Density in Women Living with Complete Androgen Insensitivity Syndrome and Intact Testes or Removed Gonads. ( 28715798 )
2017
12
Prenatal Diagnosis of Twin Fetuses with a Novel AR Gene Mutation in a Chinese Family of Complete Androgen Insensitivity Syndrome. ( 29206494 )
2017
13
Increased psychiatric morbidity in women with complete androgen insensitivity syndrome or complete gonadal dysgenesis. ( 28867417 )
2017
14
Clinical and genetic characterization of six cases with complete androgen insensitivity syndrome in China. ( 28947719 )
2017
15
Bone mineral density in complete androgen insensitivity syndrome and the timing of gonadectomy. ( 28493277 )
2017
16
Gonadal Surgery in Complete Androgen Insensitivity Syndrome: A Debate. ( 28609774 )
2017
17
Sexual orientation and medical history among Iranian people with Complete Androgen Insensitivity Syndrome and Congenital Adrenal Hyperplasia. ( 27998513 )
2017
18
A recurrent synonymous mutation in the human androgen receptor gene causing complete androgen insensitivity syndrome. ( 28743543 )
2017
19
Mismatch between fetal sexing and birth phenotype: aA case of complete androgen insensitivity syndrome. ( 29118296 )
2017
20
Do sex differences in CEOAEs and 2D:4D ratios reflect androgen exposure? A study in women with complete androgen insensitivity syndrome. ( 28413602 )
2017
21
Gonadectomy in Complete Androgen Insensitivity Syndrome: Why and When? ( 28719904 )
2017
22
Laparoscopic Gonadectomy and Hernia Repair for Complete Androgen Insensitivity Syndrome (CAIS): A Rare Cause of Primary Amenorrhea. ( 27298532 )
2016
23
Complete androgen insensitivity syndrome caused by a deep intronic pseudoexon-activating mutation in the androgen receptor gene. ( 27609317 )
2016
24
Complete Androgen Insensitivity Syndrome in Three Generations of Indian Pedigree. ( 27651630 )
2016
25
Complete androgen insensitivity syndrome or testicular feminization: review of literature based on a case report. ( 28270903 )
2016
26
Mutational analysis of the androgen receptor gene in two Chinese families with complete androgen insensitivity syndrome. ( 27284311 )
2016
27
Complete androgen insensitivity syndrome with concomitant seminoma and Sertoli cell adenoma: an unusual combination. ( 28039344 )
2016
28
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
29
Usefulness and role of magnetic resonance imaging in a case of complete androgen insensitivity syndrome. ( 27398128 )
2015
30
Characteristic features of reproductive hormone profiles in late adolescent and adult females with complete androgen insensitivity syndrome. ( 25613104 )
2015
31
Timing of Gonadectomy in Patients with Complete Androgen Insensitivity Syndrome- Current Recommendations and Future Directions. ( 26428189 )
2015
32
A novel mutation of the androgen receptor gene in familial complete androgen insensitivity syndrome. ( 26592841 )
2015
33
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
34
Different types of androgen receptor mutations in patients with complete androgen insensitivity syndrome. ( 25674389 )
2015
35
Chromosomal Study is Must for Prepubertal Girl with Inguinal Hernia: Opportunity to Diagnose Complete Androgen Insensitivity Syndrome. ( 26023570 )
2015
36
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
37
Complete androgen insensitivity syndrome associated with male gender identity or female precocious puberty in the same family. ( 25633053 )
2015
38
Laparoscopic gonedectomy in a case of complete androgen insensitivity syndrome. ( 25395750 )
2014
39
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
40
Complete androgen insensitivity syndrome in juveniles and adults with female phenotypes. ( 25170741 )
2014
41
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
42
Neural Activation During Mental Rotation in Complete Androgen Insensitivity Syndrome: the Influence of Sex Hormones and Sex Chromosomes. ( 25452569 )
2014
43
A case of complete androgen insensitivity syndrome: genetic analysis of the family. ( 25404833 )
2014
44
Diagnostic laparoscopy in a twelve year old girl with right iliac fossa pain: A life changing diagnosis of complete androgen insensitivity syndrome. ( 24995665 )
2014
45
Brain responses to sexual images in 46,XY women with complete androgen insensitivity syndrome are female-typical. ( 25284435 )
2014
46
Response to: Comment on "Complete Androgen Insensitivity Syndrome: Optimizing Diagnosis and Management". ( 25574409 )
2014
47
Complete androgen insensitivity syndrome in three sisters. ( 24520507 )
2014
48
Comment on "complete androgen insensitivity syndrome: optimizing diagnosis and management". ( 24949207 )
2014
49
Complete androgen insensitivity syndrome with a large gonadal serous papillary cystadenofibroma. ( 25191030 )
2014
50
Testicular feminization: complete androgen insensitivity syndrome. Discussions based on a case report. ( 24715185 )
2014

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 exosome GO:0070062 9.76 IGF2 IGFBP2 IGFBP3 LYVE1 MUC1 MUC5AC
2 extracellular region GO:0005576 9.28 ALPG 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:

# Name GO ID Score Top Affiliating Genes
1 positive regulation of MAPK cascade GO:0043410 9.43 AR IGF2 IGFBP3
2 sex differentiation GO:0007548 9.37 AR SRY
3 positive regulation of activated T cell proliferation GO:0042104 9.32 IGF2 IGFBP2
4 positive regulation of insulin-like growth factor receptor signaling pathway GO:0043568 9.16 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:

# 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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74 UMLS via Orphanet
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