CAIS
MCID: CMP034
MIFTS: 43

Complete Androgen Insensitivity Syndrome (CAIS) malady

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

Aliases & Classifications for Complete Androgen Insensitivity Syndrome

Aliases & Descriptions 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:



External Ids:

Orphanet 56 ORPHA99429
ICD10 via Orphanet 34 E34.5

Summaries for Complete Androgen Insensitivity Syndrome

NIH Rare Diseases : 50 complete androgen insensitivity syndrome is 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 poliomyelitis, and has symptoms including tremor, inguinal hernia and osteoporosis. 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 endocrine/exocrine gland and immune system

Wikipedia : 71 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 65)
id Related Disease Score Top Affiliating Genes
1 androgen insensitivity 11.7
2 poliomyelitis 10.2 AR MUC1
3 antisynthetase syndrome 10.2 CGA SRY
4 periodic fever, aphthous stomatitis, pharyngitis and adenitis 10.2 AR CGA IGFBP3
5 inguinal hernia 10.2
6 ulceroglandular tularemia 10.2 AR SHBG
7 epiphora due to excess lacrimation 10.2 IGF2 PTGDS
8 leydig cell tumor 10.1
9 lacrimal gland mucoepidermoid carcinoma 10.1 MUC1 MUC5AC
10 male genital organ stricture 10.1 IGFBP3 SHBG
11 laryngeal mucoepidermoid carcinoma 10.1 MUC1 MUC5AC
12 fibular collateral ligament bursitis 10.1 MUC1 MUC5AC
13 epileptic encephalopathy, early infantile, 24 10.1 IGF2 IGFBP3
14 angiolipomatosis, familial 10.1 AR MUC1
15 sertoli-leydig cell tumor 10.1
16 malignant teratocarcinosarcoma 10.1 ALPPL2 AR CGA
17 adult medulloblastoma 10.1 AR IGFBP3 SHBG
18 breast myoepithelial neoplasm 10.1 AR CGA SHBG
19 trophoblastic neoplasm 10.1 MUC1 MUC5AC
20 capillary lymphangioma 10.1 AR SHBG SRY
21 borderline personality disorder 10.0 AR CYP19A1
22 adenoma 10.0
23 extrahepatic bile duct adenocarcinoma 10.0 IGFBP3 SHBG SRY
24 osteogenesis imperfecta 10.0 AR CYP19A1
25 cervical spinal canal and spinal cord meningioma 10.0 CGA CYP19A1
26 bardet-biedl syndrome 1 10.0 CGA CYP19A1
27 hereditary renal cell carcinoma 10.0 ALPPL2 CGA IGF2
28 skin hemangioma 10.0 AR CYP19A1 NR1H2
29 thymoma 10.0 MUC1 MUC5AC
30 polyneuropathy 10.0 CYP19A1 SHBG
31 benign shuddering attacks 10.0 AR CYP19A1 IGFBP3
32 seminoma 9.9
33 amenorrhea 9.9
34 esophagus sarcoma 9.9 AR CYP19A1 SRY
35 intraventricular meningioma 9.9 AR CGA SHBG SRY
36 glioblastoma mesenchymal subtype 9.9 AR CYP19A1 SHBG
37 trachea carcinoma in situ 9.9 CGA SHBG
38 leukoencephalopathy with ataxia 9.9 AR CYP19A1 SHBG
39 gaucher's disease 9.9 AR CYP19A1 SHBG
40 diabetes mellitus, insulin-resistant, with acanthosis nigricans 9.9 ALPPL2 AR CGA SHBG
41 edict syndrome 9.9 IGF2 IGFBP2 IGFBP3 SHBG
42 acute thyroiditis 9.9 CYP19A1 SHBG
43 epidural spinal canal meningioma 9.9 CGA CYP19A1 SHBG
44 pinguecula 9.8 CGA CYP19A1 SHBG
45 ovarian mucinous cystadenocarcinoma 9.8 ALPPL2 CGA CYP19A1
46 dystonia-parkinsonism, x-linked 9.8 AR CYP19A1 LYVE1 SHBG
47 benign perivascular tumor 9.8 AR CYP19A1 SRY
48 cystadenofibroma 9.8
49 precocious puberty 9.8
50 microtia 9.8

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

MGI Mouse Phenotypes related to Complete Androgen Insensitivity Syndrome:

44
id 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 IGF2 IGFBP2 LYVE1 MUC5AC NR1H2 PTGDS
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:

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, Breast, Cervix, Bone, Skin, Brain

Publications for Complete Androgen Insensitivity Syndrome

Articles related to Complete Androgen Insensitivity Syndrome:

(show top 50) (show all 167)
id Title Authors Year
1
Do sex differences in CEOAEs and 2D:4D ratios reflect androgen exposure? A study in women with complete androgen insensitivity syndrome. ( 28413602 )
2017
2
Bone mineral density in complete androgen insensitivity syndrome and the timing of gonadectomy. ( 28493277 )
2017
3
Frequency of gonadal tumours in complete androgen insensitivity syndrome (CAIS): A retrospective case-series analysis. ( 28351649 )
2017
4
Sexual orientation and medical history among Iranian people with Complete Androgen Insensitivity Syndrome and Congenital Adrenal Hyperplasia. ( 27998513 )
2017
5
Complete Androgen Insensitivity Syndrome in Three Generations of Indian Pedigree. ( 27651630 )
2016
6
Complete androgen insensitivity syndrome or testicular feminization: review of literature based on a case report. ( 28270903 )
2016
7
Complete androgen insensitivity syndrome caused by a deep intronic pseudoexon-activating mutation in the androgen receptor gene. ( 27609317 )
2016
8
Laparoscopic Gonadectomy and Hernia Repair for Complete Androgen Insensitivity Syndrome (CAIS): A Rare Cause of Primary Amenorrhea. ( 27298532 )
2016
9
Mutational analysis of the androgen receptor gene in two Chinese families with complete androgen insensitivity syndrome. ( 27284311 )
2016
10
Complete androgen insensitivity syndrome with concomitant seminoma and Sertoli cell adenoma: an unusual combination. ( 28039344 )
2016
11
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
12
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
13
A novel mutation of the androgen receptor gene in familial complete androgen insensitivity syndrome. ( 26592841 )
2015
14
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
15
Characteristic features of reproductive hormone profiles in late adolescent and adult females with complete androgen insensitivity syndrome. ( 25613104 )
2015
16
Chromosomal Study is Must for Prepubertal Girl with Inguinal Hernia: Opportunity to Diagnose Complete Androgen Insensitivity Syndrome. ( 26023570 )
2015
17
Usefulness and role of magnetic resonance imaging in a case of complete androgen insensitivity syndrome. ( 27398128 )
2015
18
Complete androgen insensitivity syndrome associated with male gender identity or female precocious puberty in the same family. ( 25633053 )
2015
19
Different types of androgen receptor mutations in patients with complete androgen insensitivity syndrome. ( 25674389 )
2015
20
Timing of Gonadectomy in Patients with Complete Androgen Insensitivity Syndrome- Current Recommendations and Future Directions. ( 26428189 )
2015
21
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
22
Complete androgen insensitivity syndrome in three sisters. ( 24520507 )
2014
23
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
24
Complete androgen insensitivity syndrome with a large gonadal serous papillary cystadenofibroma. ( 25191030 )
2014
25
Brain responses to sexual images in 46,XY women with complete androgen insensitivity syndrome are female-typical. ( 25284435 )
2014
26
Testicular feminization: complete androgen insensitivity syndrome. Discussions based on a case report. ( 24715185 )
2014
27
Laparoscopic gonedectomy in a case of complete androgen insensitivity syndrome. ( 25395750 )
2014
28
A case of complete androgen insensitivity syndrome: genetic analysis of the family. ( 25404833 )
2014
29
Diagnostic laparoscopy in a twelve year old girl with right iliac fossa pain: A life changing diagnosis of complete androgen insensitivity syndrome. ( 24995665 )
2014
30
Response to: Comment on "Complete Androgen Insensitivity Syndrome: Optimizing Diagnosis and Management". ( 25574409 )
2014
31
Neural Activation During Mental Rotation in Complete Androgen Insensitivity Syndrome: the Influence of Sex Hormones and Sex Chromosomes. ( 25452569 )
2014
32
Complete androgen insensitivity syndrome in juveniles and adults with female phenotypes. ( 25170741 )
2014
33
Comment on "complete androgen insensitivity syndrome: optimizing diagnosis and management". ( 24949207 )
2014
34
Complete androgen insensitivity syndrome with persistent mA1llerian remnants. A case report. ( 22682968 )
2013
35
Evaluation of retained testes in adolescent girls and women with complete androgen insensitivity syndrome. ( 23533290 )
2013
36
L712V mutation in the androgen receptor gene causes complete androgen insensitivity syndrome due to severe loss of androgen function. ( 24055831 )
2013
37
Complete androgen insensitivity syndrome: a rare case of disorder of sex development. ( 23533861 )
2013
38
Complete androgen insensitivity syndrome associated with bilateral Sertoli cell adenomas and paratesticular leiomyomas: case report and review of the literature. ( 22819761 )
2013
39
Complete androgen insensitivity syndrome: factors influencing gonadal histology including germ cell pathology. ( 24186138 )
2013
40
Role of imaging in the diagnosis and management of complete androgen insensitivity syndrome in adults. ( 23762728 )
2013
41
A novel arg616Cys mutation in the DNA-binding domain of complete androgen insensitivity syndrome in a Chinese family. ( 24229697 )
2013
42
Genetic analysis of a family with complete androgen insensitivity syndrome. ( 24339553 )
2013
43
Sexual Life and Sexual Wellness in Individuals with Complete Androgen Insensitivity Syndrome (CAIS) and Mayer-Rokitansky-KA1ster-Hauser Syndrome (MRKHS). ( 24165016 )
2013
44
Complete Androgen Insensitivity Syndrome with a Sertoli-Leydig Cell Tumor. ( 24333107 )
2013
45
Differentiating Swyer Syndrome and Complete Androgen Insensitivity Syndrome: A Diagnostic Dilemma. ( 24119655 )
2013
46
Complete androgen insensitivity syndrome and discordant MA1llerian remnants: two cases with novel mutation in the androgen receptor. ( 23729616 )
2013
47
Screening for complete androgen insensitivity syndrome in girls with inguinal hernia: parental insight. ( 23418035 )
2013
48
A large seminoma occurring 20A years after diagnosis of complete androgen insensitivity syndrome: A case report. ( 24371685 )
2013
49
Umbilical KeyPort bilateral laparoscopic orchiectomy in patient with complete androgen insensitivity syndrome. ( 23131511 )
2012
50
A large deletion/insertion-induced frameshift mutation of the androgen receptor gene in a family with a familial complete androgen insensitivity syndrome. ( 22487869 )
2012

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:

id Name GO ID Score Top Affiliating Genes
1 extracellular exosome GO:0070062 9.76 IGF2 IGFBP2 IGFBP3 LYVE1 MUC1 MUC5AC
2 extracellular space GO:0005615 9.73 IGF2 IGFBP2 IGFBP3 MUC1 MUC5AC PTGDS
3 extracellular region GO:0005576 9.28 ALPPL2 CGA IGF2 IGFBP2 IGFBP3 MUC1
4 Golgi lumen GO:0005796 9.13 CGA MUC1 MUC5AC

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

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 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:

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

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