MCID: CMP034
MIFTS: 45

Complete Androgen Insensitivity Syndrome malady

Genetic diseases, Rare diseases, Reproductive diseases, Endocrine diseases, Fetal diseases categories

Aliases & Classifications for Complete Androgen Insensitivity Syndrome

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Sources:
45NIH Rare Diseases, 22GeneTests, 47Novoseek, 51Orphanet, 65UMLS, 28ICD10 via Orphanet
See all sources

Aliases & Descriptions for Complete Androgen Insensitivity Syndrome:

Name: Complete Androgen Insensitivity Syndrome 45 51
Cais 45 22 51
Androgen Insensitivity Syndrome, Complete 45 22
Complete Testicular Feminization Syndrome 22
 
Androgen Insensitivity Syndrome Complete 47
Complete Androgen Resistance Syndrome 51
Testicular Feminization 65


Classifications:



Characteristics (Orphanet epidemiological data):

51
cais:
Inheritance: X-linked recessive; Age of onset: All ages; Age of death: normal life expectancy


External Ids:

Orphanet51 99429
ICD10 via Orphanet28 E34.5

Summaries for Complete Androgen Insensitivity Syndrome

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Wikipedia:68 Complete androgen insensitivity syndrome (CAIS) is a condition that results in the complete inability of... more...

MalaCards based summary: Complete Androgen Insensitivity Syndrome, also known as cais, is related to scoliosis and gonadal dysgenesis, and has symptoms including cryptorchidism, male pseudohermaphroditism and tall stature. An important gene associated with Complete Androgen Insensitivity Syndrome is AR (Androgen Receptor), and among its related pathways are FSH signaling pathway and Nongenotropic Androgen signaling. Affiliated tissues include testes, bone and breast, and related mouse phenotypes are integument and liver/biliary system.

Related Diseases for Complete Androgen Insensitivity Syndrome

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Diseases related to Complete Androgen Insensitivity Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50)    (show all 100)
idRelated DiseaseScoreTop Affiliating Genes
1scoliosis30.4AR, MUC1
2gonadal dysgenesis30.3AR, CYP19A1, SRY
3spinal and bulbar muscular atrophy of kennedy29.8AR, CGA, LYVE1, SHBG, SRY
4androgen insensitivity11.4
5inguinal hernia10.7
6leydig cell tumor10.6
7sertoli-leydig cell tumor10.6
8adenoma10.4
9sertoli cell tumor10.3
10amenorrhea10.3
11cystadenofibroma10.3
12leiomyoma10.3
13prostatitis10.3
14seminoma10.3
15vaginitis10.3
16mayer-rokitansky-kuster-hauser syndrome10.3
17precocious puberty10.3
18swyer syndrome10.3
19microtia10.3
20pagod syndrome10.3AR, MUC1
21apocrine sweat gland neoplasm10.3AR, MUC1
22intravenous leiomyomatosis10.2IGF2, PTGDS
23anorectal atresia10.2CGA, SRY
24von economo's disease10.2CGA, SRY
25shigellosis10.2IGF2, IGFBP3
26penoscrotal transposition10.2AR, CGA, IGFBP3
27laron dwarfism10.2IGF2, IGFBP3
28splenic artery aneurysm10.2MUC1, MUC5AC
29adult leptomeningeal melanoma10.2LYVE1, MUC1
30childhood intracortical osteosarcoma10.2CGA, SHBG
31lymphangitis10.2MUC1, MUC5AC
32coronary aneurysm10.2MUC1, MUC5AC
33gastrin secretion abnormality10.1IGFBP3, SHBG
34microcystic meningioma10.1MUC1, MUC5AC
35brain glioma10.1ALPPL2, SRY
36testicular granulosa cell tumor10.1AR, CGA, SRY
37eustachian tube disease10.1MUC1, MUC5AC
38pancreatitis10.1MUC1, MUC5AC
39meconium ileus10.1MUC1, MUC5AC
40nasal cavity inverting papilloma10.1ALPPL2, SRY
41thrombocytosis10.1MUC1, MUC5AC
42senile cataract10.1ALPPL2, CGA, IGF2
43idiopathic scoliosis10.1MUC1, MUC5AC
44liver cirrhosis10.1MUC1, MUC5AC
45cystic kidney10.1AR, MUC1, SRY
46epithelioid leiomyosarcoma10.1MUC1, MUC5AC
47abnormality of glucagon secretion10.1IGFBP3, MUC5AC
48hemiplegia10.1IGF2, MUC1
49reticular pattern testicular yolk sac tumor10.1AR, CYP19A1
50pediatric cns embryonal cell carcinoma10.1MUC1, MUC5AC

Graphical network of the top 20 diseases related to Complete Androgen Insensitivity Syndrome:



Diseases related to complete androgen insensitivity syndrome

Symptoms for Complete Androgen Insensitivity Syndrome

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Symptoms:

 51 (show all 14)
  • decreased body hair/axillar/pubic hairlessness
  • male pseudohermaphrodism/lack of virilisation
  • uterine/uterus/fallopian tubes anomalies
  • undescended/ectopic testes/cryptorchidia/unfixed testes
  • sterility/hypofertility
  • primary amenorrhea
  • tall stature/gigantism/growth acceleration
  • inguinal/inguinoscrotal/crural hernia
  • osteoporosis/osteopenia/demineralisation/osteomalacia/rickets
  • gynecomastia/breast/mammary gland enlargement/hyperplasia
  • tremor
  • sensitive trouble/deficit
  • contractures/cramps/trismus/tetania/claudication/opisthotonos
  • testicular/seminal neoplasm/tumor/carcinoma/cancer (excl. teratoma/germinoma)

HPO human phenotypes related to Complete Androgen Insensitivity Syndrome:

(show all 12)
id Description Frequency HPO Source Accession
1 cryptorchidism hallmark (90%) HP:0000028
2 male pseudohermaphroditism hallmark (90%) HP:0000037
3 tall stature hallmark (90%) HP:0000098
4 decreased fertility hallmark (90%) HP:0000144
5 primary amenorrhea hallmark (90%) HP:0000786
6 abnormal hair quantity hallmark (90%) HP:0011362
7 hernia of the abdominal wall typical (50%) HP:0004299
8 reduced bone mineral density typical (50%) HP:0004349
9 gynecomastia occasional (7.5%) HP:0000771
10 tremor occasional (7.5%) HP:0001337
11 flexion contracture occasional (7.5%) HP:0001371
12 testicular neoplasm occasional (7.5%) HP:0010788

Drugs & Therapeutics for Complete Androgen Insensitivity Syndrome

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Complete Androgen Insensitivity Syndrome

Genetic Tests for Complete Androgen Insensitivity Syndrome

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Genetic tests related to Complete Androgen Insensitivity Syndrome:

id Genetic test Affiliating Genes
1 Complete Androgen Insensitivity Syndrome22 AR

Anatomical Context for Complete Androgen Insensitivity Syndrome

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MalaCards organs/tissues related to Complete Androgen Insensitivity Syndrome:

33
Testes, Bone, Breast, Uterus, Skin, Brain, Testis

Animal Models for Complete Androgen Insensitivity Syndrome or affiliated genes

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MGI Mouse Phenotypes related to Complete Androgen Insensitivity Syndrome:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00107718.5AR, CYP19A1, IGF2, MUC1, NR1H2, PTGDS
2MP:00053708.1AR, CYP19A1, IGF2, IGFBP2, IGFBP3, MUC1
3MP:00053797.8AR, CGA, CYP19A1, IGF2, IGFBP3, MUC1
4MP:00053767.0AR, CGA, CYP19A1, IGF2, IGFBP3, MUC1
5MP:00053876.9AR, CYP19A1, IGF2, IGFBP2, LYVE1, MUC5AC

Publications for Complete Androgen Insensitivity Syndrome

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Articles related to Complete Androgen Insensitivity Syndrome:

(show top 50)    (show all 155)
idTitleAuthorsYear
1
Complete androgen insensitivity syndrome associated with male gender identity or female precocious puberty in the same family. (25633053)
2015
2
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
3
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
4
Response to: Comment on "Complete Androgen Insensitivity Syndrome: Optimizing Diagnosis and Management". (25574409)
2014
5
Complete androgen insensitivity syndrome in juveniles and adults with female phenotypes. (25170741)
2014
6
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
7
Diagnostic laparoscopy in a twelve year old girl with right iliac fossa pain: A life changing diagnosis of complete androgen insensitivity syndrome. (24995665)
2014
8
A novel arg616Cys mutation in the DNA-binding domain of complete androgen insensitivity syndrome in a Chinese family. (24229697)
2013
9
Complete androgen insensitivity syndrome: a rare case of disorder of sex development. (23533861)
2013
10
Timing of gonadectomy in adult women with complete androgen insensitivity syndrome (CAIS): patient preferences and clinical evidence. (22211628)
2012
11
A novel nonsense mutation in the N-terminal domain of the androgen receptor gene causes complete androgen insensitivity syndrome. (22943730)
2012
12
Ultrasound findings in a rare case of inguinal testicular torsion in a female with complete androgen insensitivity syndrome. (21998027)
2012
13
A large deletion/insertion-induced frameshift mutation of the androgen receptor gene in a family with a familial complete androgen insensitivity syndrome. (22487869)
2012
14
A novel Arg615Ser mutation of androgen receptor DNA-binding domain in three 46,XY sisters with complete androgen insensitivity syndrome and bilateral inguinal hernia. (20888558)
2011
15
Complete androgen insensitivity syndrome: an anatomic evaluation and sexual function questionnaire pilot study. (20719566)
2011
16
Familial complete androgen insensitivity syndrome with prostatic tissue and seminal vesicles. (20602105)
2010
17
S578N mutation of the androgen receptor in an adolescent with complete androgen insensitivity syndrome. (20819612)
2010
18
A double nucleotide insertion-induced frame-shift mutation of the androgen receptor gene in a familial complete androgen insensitivity syndrome. (19815331)
2010
19
Apparent male gender identity in a patient with complete androgen insensitivity syndrome. (19636694)
2009
20
Identification of a critical novel mutation in the exon 1 of androgen receptor gene in 2 brothers with complete androgen insensitivity syndrome. (19023143)
2009
21
Body composition and metabolic profile in women with complete androgen insensitivity syndrome. (19752598)
2009
22
Case of sisters with complete androgen insensitivity syndrome and discordant MA1llerian remnants. (18930210)
2009
23
In-vitro characterization of androgen receptor mutations associated with complete androgen insensitivity syndrome reveals distinct functional deficits. (18577874)
2008
24
Normalization of the vagina by dilator treatment alone in Complete Androgen Insensitivity Syndrome and Mayer-Rokitansky-Kuster-Hauser Syndrome. (17449508)
2007
25
Testicular development in the complete androgen insensitivity syndrome. (16400621)
2006
26
Complete androgen insensitivity syndrome: report of a case with solitary pelvic kidney. (16604972)
2006
27
Five novel androgen receptor gene mutations associated with complete androgen insensitivity syndrome. (16470553)
2006
28
Puberty in subjects with complete androgen insensitivity syndrome. (16491011)
2006
29
A novel androgen receptor mutation resulting in complete androgen insensitivity syndrome and bilateral Leydig cell hyperplasia. (16582414)
2006
30
Leydig cell tumor in an elderly patient with complete androgen insensitivity syndrome. (15721441)
2005
31
Bridging structural biology and genetics by computational methods: an investigation into how the R774C mutation in the AR gene can result in complete androgen insensitivity syndrome. (14635106)
2003
32
Transition C2718T in the AR gene, resulting in generation of a termination codon and truncated form of the androgen receptor, causes complete androgen insensitivity syndrome. (12084976)
2002
33
Complete androgen insensitivity syndrome: effect on human meibomian gland secretions. (12470144)
2002
34
Long-term perspectives for 46,XY patients affected by complete androgen insensitivity syndrome or congenital micropenis. (12428209)
2002
35
Persistence of MA1llerian remnants in complete androgen insensitivity syndrome. (12503865)
2002
36
Decreased expression of IGF-II and its binding protein, IGF-binding protein-2, in genital skin fibroblasts of patients with complete androgen insensitivity syndrome compared with normally virilized males. (11600534)
2001
37
Novel amino acid substitutional mutation, tyrosine-739-aspartic acid, in the androgen receptor gene in complete androgen insensitivity syndrome. (11380707)
2001
38
Androgen receptor gene mutation associated with complete androgen insensitivity syndrome and Sertoli cell adenoma. (11293168)
2001
39
A 19 year old with complete androgen insensitivity syndrome and juvenile fibroadenoma of the breast. (11843857)
2001
40
A substitutional mutation in the DNA binding domain of the androgen receptor causes complete androgen insensitivity syndrome. (10599549)
1999
41
A novel mutation in the CAG triplet region of exon 1 of androgen receptor gene causes complete androgen insensitivity syndrome in a large kindred. (10323385)
1999
42
Altered bone mineral density in patients with complete androgen insensitivity syndrome. (9973670)
1998
43
One additional mutation at exon A amplifies thermolability of androgen receptor in a case with complete androgen insensitivity syndrome. (9610419)
1998
44
Wide variation in androgen receptor dysfunction in complete androgen insensitivity syndrome. (9328206)
1997
45
Complete androgen insensitivity syndrome. Molecular characterization in two Chinese women. (9252933)
1997
46
Laparoscopic gonadectomy in a woman with complete androgen insensitivity syndrome. (9050649)
1996
47
Complete androgen insensitivity syndrome due to a new frameshift deletion in exon 4 of the androgen receptor gene: functional analysis of the mutant receptor. (7649349)
1995
48
Complete androgen insensitivity syndrome associated with a de novo mutation of the androgen receptor gene detected by single strand conformation polymorphism. (8096390)
1993
49
A unique point mutation in the androgen receptor gene in a family with complete androgen insensitivity syndrome. (1426313)
1992
50
The presence of MA1llerian remnants in the complete androgen insensitivity syndrome: a steroid hormone-mediated defect? (3753943)
1986

Variations for Complete Androgen Insensitivity Syndrome

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Clinvar genetic disease variations for Complete Androgen Insensitivity Syndrome:

5
id Gene Variation Type Significance SNP ID Assembly Location
1ARNM_000044.3(AR)undetermined variantPathogenicGRCh37Chr X, 66765160: 66765162
2ARNM_000044.3(AR): c.2571C> G (p.Phe857Leu)single nucleotide variantPathogenicrs137852598GRCh37Chr X, 66942790: 66942790
3ARNM_000044.3(AR): c.2521C> T (p.Arg841Cys)single nucleotide variantPathogenicrs137852577GRCh37Chr X, 66942740: 66942740
4ARNM_000044.3(AR): c.2667C> T (p.Ser889=)single nucleotide variantPathogenicrs137852594GRCh37Chr X, 66943587: 66943587
5ARNM_000044.3(AR): c.2137C> T (p.Leu713Phe)single nucleotide variantPathogenicrs137852595GRCh37Chr X, 66931495: 66931495
6ARNM_000044.3(AR): c.1732G> A (p.Gly578Arg)single nucleotide variantPathogenicrs137852596GRCh37Chr X, 66863213: 66863213
7ARNM_000044.3(AR): c.2596T> C (p.Ser866Pro)single nucleotide variantPathogenicrs137852597GRCh37Chr X, 66942815: 66942815

Expression for genes affiliated with Complete Androgen Insensitivity Syndrome

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Search GEO for disease gene expression data for Complete Androgen Insensitivity Syndrome.

Pathways for genes affiliated with Complete Androgen Insensitivity Syndrome

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GO Terms for genes affiliated with Complete Androgen Insensitivity Syndrome

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Cellular components related to Complete Androgen Insensitivity Syndrome according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1extracellular spaceGO:00056157.5IGF2, IGFBP2, IGFBP3, MUC1, MUC5AC, PTGDS
2extracellular exosomeGO:00700627.0IGF2, IGFBP2, IGFBP3, LYVE1, MUC1, MUC5AC

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

idNameGO IDScoreTop Affiliating Genes
1positive regulation of insulin-like growth factor receptor signaling pathwayGO:004356810.5AR, IGFBP3
2prostate gland growthGO:006073610.4AR, CYP19A1
3regulation of insulin-like growth factor receptor signaling pathwayGO:004356710.2IGFBP2, IGFBP3
4positive regulation of activated T cell proliferationGO:004210410.0IGF2, IGFBP2
5positive regulation of MAPK cascadeGO:00434109.9AR, IGF2, IGFBP3
6cellular protein metabolic processGO:00442677.8CGA, IGF2, IGFBP2, IGFBP3, MUC1, MUC5AC

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

idNameGO IDScoreTop Affiliating Genes
1insulin-like growth factor I bindingGO:00319949.8IGFBP2, IGFBP3
2insulin-like growth factor II bindingGO:00319959.8IGFBP2, IGFBP3
3androgen bindingGO:00054979.7AR, SHBG
4insulin-like growth factor bindingGO:00055209.6IGFBP2, IGFBP3

Sources for Complete Androgen Insensitivity Syndrome

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet