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 49 55
Cais 49 55
Androgen Insensitivity Syndrome, Complete 49
Androgen Insensitivity Syndrome Complete 51
Complete Androgen Resistance Syndrome 55
Testicular Feminization 69

Characteristics:

Orphanet epidemiological data:

55
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 : 49 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 syndrome and cystadenofibroma, 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, breast and testes, and related phenotypes are endocrine/exocrine gland and liver/biliary system

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 96)
# Related Disease Score Top Affiliating Genes
1 androgen insensitivity syndrome 32.1 AR CGA LYVE1 SHBG SRY
2 cystadenofibroma 30.2 MUC1 SRY
3 seminoma 30.0 ALPPL2 CGA IGF2
4 sex differentiation disease 29.2 AR CYP19A1 SHBG SRY
5 apocrine adenocarcinoma 10.5 AR MUC1
6 paget disease, extramammary 10.4 AR MUC1
7 reticulum cell sarcoma 10.4 LYVE1 MUC1
8 47,xyy 10.4 IGFBP3 SRY
9 ocular hyperemia 10.4 IGF2 IGFBP3
10 orbital cyst 10.4 IGF2 PTGDS
11 acid-labile subunit deficiency 10.4 IGF2 IGFBP3
12 anorchia 10.4 CGA SRY
13 postmenopausal atrophic vaginitis 10.3 AR SHBG
14 cerebral primitive neuroectodermal tumor 10.3 LYVE1 MUC1
15 prostatic adenoma 10.3 AR SHBG
16 papilloma of choroid plexus 10.3 IGF2 MUC1
17 penis agenesis 10.3 AR CGA IGFBP3
18 marasmus 10.3 IGFBP3 SHBG
19 fetal macrosomia 10.3 IGF2 IGFBP3
20 inguinal hernia 10.2
21 testicular disease 10.2 CGA SRY
22 breast mucoepidermoid carcinoma 10.2 MUC1 MUC5AC
23 seborrheic dermatitis 10.2 CGA SHBG
24 hemangiopericytoma, malignant 10.2 IGF2 MUC1
25 leydig cell tumor 10.2
26 bile duct mucoepidermoid carcinoma 10.2 MUC1 MUC5AC
27 chronic ethmoiditis 10.2 MUC1 MUC5AC
28 bile duct cystadenocarcinoma 10.2 MUC1 MUC5AC
29 mucinous ovarian cystadenoma 10.2 MUC1 MUC5AC
30 filamentary keratitis 10.2 MUC1 MUC5AC
31 47, xxy 10.2 AR IGFBP3 SHBG
32 sertoli-leydig cell tumor 10.2
33 male reproductive organ cancer 10.1 AR IGFBP3 SHBG
34 biliary papillomatosis 10.1 MUC1 MUC5AC
35 ethmoid sinusitis 10.1 MUC1 MUC5AC
36 colloid carcinoma of the pancreas 10.1 MUC1 MUC5AC
37 malignant germ cell tumor 10.1 ALPPL2 AR CGA
38 limbal stem cell deficiency 10.1 MUC1 MUC5AC
39 transsexualism 10.1 AR CYP19A1
40 wilms tumor 1 10.1 AR IGF2 SRY
41 testicular cancer 10.1 AR CGA SHBG
42 gender identity disorder 10.1 AR CYP19A1
43 adenoma 10.1
44 meconium ileus 10.1 MUC1 MUC5AC
45 gastric tubular adenocarcinoma 10.1 MUC1 MUC5AC
46 hermaphroditism 10.1 AR SHBG SRY
47 gonadal disease 10.1 AR SHBG SRY
48 mammographic density 10.1 CYP19A1 IGFBP3
49 prostatic hyperplasia, benign 10.0 AR CYP19A1
50 oocyte maturation defect 1 10.0 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:

55 31 (show all 16)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 inguinal hernia 55 31 frequent (33%) Frequent (79-30%) HP:0000023
2 cryptorchidism 55 31 hallmark (90%) Very frequent (99-80%) HP:0000028
3 testicular gonadoblastoma 55 31 occasional (7.5%) Occasional (29-5%) HP:0000030
4 male pseudohermaphroditism 55 31 hallmark (90%) Very frequent (99-80%) HP:0000037
5 aplasia of the uterus 55 31 hallmark (90%) Very frequent (99-80%) HP:0000151
6 sensory neuropathy 55 31 occasional (7.5%) Occasional (29-5%) HP:0000763
7 gynecomastia 55 31 occasional (7.5%) Occasional (29-5%) HP:0000771
8 primary amenorrhea 55 31 hallmark (90%) Very frequent (99-80%) HP:0000786
9 nephrolithiasis 55 31 hallmark (90%) Very frequent (99-80%) HP:0000787
10 infertility 55 31 hallmark (90%) Very frequent (99-80%) HP:0000789
11 osteoporosis 55 31 frequent (33%) Frequent (79-30%) HP:0000939
12 tremor 55 31 occasional (7.5%) Occasional (29-5%) HP:0001337
13 absent axillary hair 55 31 hallmark (90%) Very frequent (99-80%) HP:0002221
14 absent pubic hair 55 31 hallmark (90%) Very frequent (99-80%) HP:0002555
15 muscle cramps 55 31 occasional (7.5%) Occasional (29-5%) HP:0003394
16 aplasia/hypoplasia of the fallopian tube 55 31 hallmark (90%) Very frequent (99-80%) HP:0008655

MGI Mouse Phenotypes related to Complete Androgen Insensitivity Syndrome:

43
# 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

Anatomical Context for Complete Androgen Insensitivity Syndrome

MalaCards organs/tissues related to Complete Androgen Insensitivity Syndrome:

38
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 181)
# Title Authors Year
1
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
2
Aberrant breast tissue in complete androgen insensitivity syndrome. ( 29388223 )
2018
3
Hormone replacement treatment choices in complete androgen insensitivity syndrome: an audit of an adult clinic. ( 28615185 )
2017
4
Clinical and genetic characterization of six cases with complete androgen insensitivity syndrome in China. ( 28947719 )
2017
5
Bone Mineral Density in Women Living with Complete Androgen Insensitivity Syndrome and Intact Testes or Removed Gonads. ( 28715798 )
2017
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 recurrent synonymous mutation in the human androgen receptor gene causing complete androgen insensitivity syndrome. ( 28743543 )
2017
8
Prenatal Diagnosis of Twin Fetuses with a Novel AR Gene Mutation in a Chinese Family of Complete Androgen Insensitivity Syndrome. ( 29206494 )
2017
9
Frequency of gonadal tumours in complete androgen insensitivity syndrome (CAIS): A retrospective case-series analysis. ( 28351649 )
2017
10
Mismatch between fetal sexing and birth phenotype: aA case of complete androgen insensitivity syndrome. ( 29118296 )
2017
11
Bone mineral density in complete androgen insensitivity syndrome and the timing of gonadectomy. ( 28493277 )
2017
12
Sexual orientation and medical history among Iranian people with Complete Androgen Insensitivity Syndrome and Congenital Adrenal Hyperplasia. ( 27998513 )
2017
13
Do sex differences in CEOAEs and 2D:4D ratios reflect androgen exposure? A study in women with complete androgen insensitivity syndrome. ( 28413602 )
2017
14
A rare polypyrimidine tract mutation in the androgen receptor gene results in complete androgen insensitivity syndrome. ( 28857053 )
2017
15
Gonadectomy in Complete Androgen Insensitivity Syndrome: Why and When? ( 28719904 )
2017
16
[Analysis of AR gene mutation in a family affected with complete androgen insensitivity syndrome using long chain RT-PCR]. ( 28186600 )
2017
17
Increased psychiatric morbidity in women with complete androgen insensitivity syndrome or complete gonadal dysgenesis. ( 28867417 )
2017
18
Gonadal Surgery in Complete Androgen Insensitivity Syndrome: A Debate. ( 28609774 )
2017
19
Mutational analysis of the androgen receptor gene in two Chinese families with complete androgen insensitivity syndrome. ( 27284311 )
2016
20
Complete androgen insensitivity syndrome or testicular feminization: review of literature based on a case report. ( 28270903 )
2016
21
Complete androgen insensitivity syndrome caused by a deep intronic pseudoexon-activating mutation in the androgen receptor gene. ( 27609317 )
2016
22
Complete Androgen Insensitivity Syndrome in Three Generations of Indian Pedigree. ( 27651630 )
2016
23
Laparoscopic Gonadectomy and Hernia Repair for Complete Androgen Insensitivity Syndrome (CAIS): A Rare Cause of Primary Amenorrhea. ( 27298532 )
2016
24
Complete androgen insensitivity syndrome with concomitant seminoma and Sertoli cell adenoma: an unusual combination. ( 28039344 )
2016
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
Chromosomal Study is Must for Prepubertal Girl with Inguinal Hernia: Opportunity to Diagnose Complete Androgen Insensitivity Syndrome. ( 26023570 )
2015
28
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
29
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
30
Usefulness and role of magnetic resonance imaging in a case of complete androgen insensitivity syndrome. ( 27398128 )
2015
31
Complete androgen insensitivity syndrome associated with male gender identity or female precocious puberty in the same family. ( 25633053 )
2015
32
Characteristic features of reproductive hormone profiles in late adolescent and adult females with complete androgen insensitivity syndrome. ( 25613104 )
2015
33
Different types of androgen receptor mutations in patients with complete androgen insensitivity syndrome. ( 25674389 )
2015
34
A novel mutation of the androgen receptor gene in familial complete androgen insensitivity syndrome. ( 26592841 )
2015
35
Brain responses to sexual images in 46,XY women with complete androgen insensitivity syndrome are female-typical. ( 25284435 )
2014
36
Testicular feminization: complete androgen insensitivity syndrome. Discussions based on a case report. ( 24715185 )
2014
37
Comment on "complete androgen insensitivity syndrome: optimizing diagnosis and management". ( 24949207 )
2014
38
Complete androgen insensitivity syndrome with a large gonadal serous papillary cystadenofibroma. ( 25191030 )
2014
39
Response to: Comment on "Complete Androgen Insensitivity Syndrome: Optimizing Diagnosis and Management". ( 25574409 )
2014
40
A case of complete androgen insensitivity syndrome: genetic analysis of the family. ( 25404833 )
2014
41
Diagnostic laparoscopy in a twelve year old girl with right iliac fossa pain: A life changing diagnosis of complete androgen insensitivity syndrome. ( 24995665 )
2014
42
Laparoscopic gonedectomy in a case of complete androgen insensitivity syndrome. ( 25395750 )
2014
43
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
44
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
45
Complete androgen insensitivity syndrome in juveniles and adults with female phenotypes. ( 25170741 )
2014
46
Neural Activation During Mental Rotation in Complete Androgen Insensitivity Syndrome: the Influence of Sex Hormones and Sex Chromosomes. ( 25452569 )
2014
47
Complete androgen insensitivity syndrome in three sisters. ( 24520507 )
2014
48
A large seminoma occurring 20A years after diagnosis of complete androgen insensitivity syndrome: A case report. ( 24371685 )
2013
49
Complete androgen insensitivity syndrome: a rare case of disorder of sex development. ( 23533861 )
2013
50
Complete androgen insensitivity syndrome with persistent mA1llerian remnants. A case report. ( 22682968 )
2013

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 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:

# 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 prostate gland growth GO:0060736 8.96 AR CYP19A1
6 regulation of insulin-like growth factor receptor signaling pathway GO:0043567 8.62 IGFBP2 IGFBP3

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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
Content
Loading form....