MCID: CMP034
MIFTS: 48

Complete Androgen Insensitivity Syndrome malady

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

Summaries for Complete Androgen Insensitivity Syndrome

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Wikipedia:63 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 androgen insensitivity syndrome, complete, is related to androgen insensitivity and leydig cell tumor, 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 Nuclear Receptor transcription pathway and Ovarian steroidogenesis. The compounds vinclozolin and aroclor 1254 have been mentioned in the context of this disorder. Affiliated tissues include testes, bone and breast, and related mouse phenotypes are endocrine/exocrine gland and integument.

Aliases & Classifications for Complete Androgen Insensitivity Syndrome

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Sources:
60UMLS, 41NIH Rare Diseases, 47Orphanet, 20GeneTests, 43Novoseek, 26ICD10 via Orphanet
See all sources

Complete Androgen Insensitivity Syndrome, Aliases & Descriptions:

Name: Complete Androgen Insensitivity Syndrome 41 47
Androgen Insensitivity Syndrome, Complete 41 20
Complete Androgen Resistance Syndrome 41 47
 
Cais 41 47
Androgen Insensitivity Syndrome Complete 43
Testicular Feminization 60


Classifications:



Characteristics (Orphanet epidemiological data):

47
complete androgen insensitivity syndrome:
Inheritance: X-linked recessive; Age of onset: All ages; Age of death: normal life expectancy


External Ids:

Orphanet47 99429
ICD10 via Orphanet26 E34.5

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 60)
idRelated DiseaseScoreTop Affiliating Genes
1androgen insensitivity32.1AR, CGA, LYVE1
2leydig cell tumor31.0CYP19A1, CGA
3sertoli cell tumor30.8CYP19A1, AR
4precocious puberty30.6CGA, CYP19A1
5seminoma30.2CGA, ALPPL2
6sertoli-leydig cell tumor10.6
7adenoma10.5
8ovarian disease10.4CYP19A1
9hemangioma10.3LYVE1
10amenorrhea10.3
11cystadenofibroma10.3
12gonadal dysgenesis10.3
13leiomyoma10.3
14prostatitis10.3
15vaginitis10.3
16mayer-rokitansky-kuster-hauser syndrome10.3
17swyer syndrome10.3
18microtia10.3
19spinal and bulbar muscular atrophy of kennedy10.3AR, LYVE1
20endocrine gland cancer10.2AR, CYP19A1
21alopecia, androgenetic, 110.2CYP19A1, AR
22prostate disease10.2CYP19A1, AR
23pseudohermaphroditism10.2AR, CYP19A1
24penis agenesis10.2CGA, AR
25oligospermia10.1AR, CGA
26hypospadias10.1AR, CGA
27ovarian cyst10.1CYP19A1, CGA
28ovarian hyperstimulation syndrome10.1CYP19A1, CGA
29anovulation10.1CGA, CYP19A1
30androgen insensitivity, partial, with or without breast cancer10.1AR, LYVE1, CYP19A1
31abrikosov's tumor10.1CYP19A1, CGA
32teratoma10.1CGA, ALPPL2
33testicular cancer10.0ALPPL2, CGA
34chronic lymphocytic leukemia10.0
35leukemia10.0
36cerebritis10.0
37ischemia10.0
38scoliosis10.0
39ischemic retinopathy10.0
40germ cell cancer10.0AR, CGA, ALPPL2
41rickets10.0NR1H2, ALPPL2
42gynecomastia10.0CYP19A1, CGA, AR
43polycystic ovary syndrome10.0CYP19A1, CGA, AR
44klinefelter's syndrome10.0AR, CGA, CYP19A1
45male infertility10.0AR, CGA, CYP19A1
46hyperandrogenism10.0CYP19A1, CGA, AR
47hypogonadism10.0AR, CGA, CYP19A1
48azoospermia10.0PTGDS, CGA, AR
49hyperthyroidism9.9CGA, ALPPL2
50adrenal cortical adenoma9.9CYP19A1, NR1H2

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:

 47 (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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Drug clinical trials:

Search ClinicalTrials for Complete Androgen Insensitivity Syndrome

Search 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 Syndrome20

Anatomical Context for Complete Androgen Insensitivity Syndrome

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MalaCards organs/tissues related to Complete Androgen Insensitivity Syndrome:

31
Testes, Bone, Breast, Uterus, Skin, Brain, Kidney, Prostate, Testis

Animal Models for Complete Androgen Insensitivity Syndrome or affiliated genes

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MGI Mouse Phenotypes related to Complete Androgen Insensitivity Syndrome:

35
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053798.6AR, CGA, NR1H2, CYP19A1
2MP:00107718.6CYP19A1, PTGDS, NR1H2, AR
3MP:00053898.2CYP19A1, NR1H2, CGA, AR
4MP:00053858.1AR, NR1H2, LYVE1, CYP19A1
5MP:00053768.0AR, CGA, NR1H2, PTGDS, CYP19A1
6MP:00053977.9AR, NR1H2, LYVE1, PTGDS, CYP19A1
7MP:00053877.8CYP19A1, PTGDS, LYVE1, NR1H2, AR

Publications for Complete Androgen Insensitivity Syndrome

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Articles related to Complete Androgen Insensitivity Syndrome:

(show top 50)    (show all 149)
idTitleAuthorsYear
1
Complete androgen insensitivity syndrome associated with male gender identity or female precocious puberty in the same family. (25633053)
2015
2
Characteristic features of reproductive hormone profiles in late adolescent and adult females with complete androgen insensitivity syndrome. (25613104)
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
Leydig cell tumor in an elderly patient with complete androgen insensitivity syndrome. (15721441)
2005
30
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
31
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
32
Complete androgen insensitivity syndrome: effect on human meibomian gland secretions. (12470144)
2002
33
Long-term perspectives for 46,XY patients affected by complete androgen insensitivity syndrome or congenital micropenis. (12428209)
2002
34
Persistence of MA1llerian remnants in complete androgen insensitivity syndrome. (12503865)
2002
35
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
36
Novel amino acid substitutional mutation, tyrosine-739-aspartic acid, in the androgen receptor gene in complete androgen insensitivity syndrome. (11380707)
2001
37
Androgen receptor gene mutation associated with complete androgen insensitivity syndrome and Sertoli cell adenoma. (11293168)
2001
38
A 19 year old with complete androgen insensitivity syndrome and juvenile fibroadenoma of the breast. (11843857)
2001
39
A substitutional mutation in the DNA binding domain of the androgen receptor causes complete androgen insensitivity syndrome. (10599549)
1999
40
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
41
Altered bone mineral density in patients with complete androgen insensitivity syndrome. (9973670)
1998
42
One additional mutation at exon A amplifies thermolability of androgen receptor in a case with complete androgen insensitivity syndrome. (9610419)
1998
43
Shortage of glutamine (CAG) homopolymeric repeats suppresses the expression of the androgen receptor in familial cases with complete androgen insensitivity syndrome. (9526703)
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:

6
id Gene Variation Type Significance SNP ID Assembly Location
1ARNM_000044.3(AR): c.2571C> G (p.Phe857Leu)single nucleotide variantPathogenicrs137852598GRCh37Chr X, 66942790: 66942790
2ARNM_000044.3(AR): c.2521C> T (p.Arg841Cys)single nucleotide variantPathogenicrs137852577GRCh37Chr X, 66942740: 66942740
3ARNM_000044.3(AR): c.2667C> T (p.Ser889=)single nucleotide variantPathogenicrs137852594GRCh37Chr X, 66943587: 66943587
4ARNM_000044.3(AR): c.2137C> T (p.Leu713Phe)single nucleotide variantPathogenicrs137852595GRCh37Chr X, 66931495: 66931495
5ARNM_000044.3(AR): c.1732G> A (p.Gly578Arg)single nucleotide variantPathogenicrs137852596GRCh37Chr X, 66863213: 66863213
6ARNM_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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Pathways related to Complete Androgen Insensitivity Syndrome according to GeneCards Suite gene sharing:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
Nuclear Receptors36
9.6AR, NR1H2
29.4CGA, CYP19A1
3
Show member pathways
9.4CGA, CYP19A1
49.4CYP19A1, CGA
59.0AR, CGA, CYP19A1
6
Show member pathways
7.6CGA, ALPPL2, LYVE1, PTGDS, CYP19A1

Compounds for genes affiliated with Complete Androgen Insensitivity Syndrome

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

(show top 50)    (show all 86)
idCompoundScoreTop Affiliating Genes
1vinclozolin439.8AR, CYP19A1
2aroclor 1254439.7AR, CYP19A1
3dutasteride43 1210.7AR, CYP19A1
4androstenediol439.7CYP19A1, AR
5linuron439.7LYVE1, AR
6procymidone439.7LYVE1, AR
7lg 100268439.6CYP19A1, NR1H2
8polyglycine439.6LYVE1, AR
9nafarelin43 59 28 1212.6CGA, CYP19A1
10nandrolone decanoate43 1210.6AR, CYP19A1
11mibolerone43 2810.6LYVE1, AR
12r1881439.6AR, LYVE1
13nandrolone43 2410.5AR, CYP19A1
14letrozole43 49 59 1212.4CYP19A1, CGA, AR
15diethylstilbestrol43 28 1211.4CGA, AR, CYP19A1
163beta-hydroxysteroid439.4CGA, AR, CYP19A1
17estradiol benzoate439.4CYP19A1, CGA
18goserelin43 28 1211.4CYP19A1, CGA
1917beta-hydroxysteroid439.4CGA, CYP19A1, AR
20dehydroepiandrosterone sulfate439.4CYP19A1, AR, CGA
21bisphenol a439.4CYP19A1, NR1H2, AR
22leuprolide43 59 28 1212.3AR, CGA
23ketoconazole43 28 24 1212.3AR, NR1H2, CYP19A1
24progestins439.3NR1H2, AR, CYP19A1
25hydroxyflutamide43 2810.2AR, CGA, LYVE1
26ttnpb43 28 1211.2NR1H2, CYP19A1
27estrone43 28 24 1212.2AR, NR1H2, CYP19A1
28metformin43 49 1211.2CGA, NR1H2, CYP19A1
29vitamin a43 24 1211.1AR, NR1H2, PTGDS, CGA
30troglitazone43 28 59 1212.1AR, NR1H2, CYP19A1
31progestin438.9NR1H2, CGA, AR, CYP19A1
32mifepristone43 28 59 1211.9CYP19A1, NR1H2, CGA, AR
33gnrh438.9CGA, NR1H2, CYP19A1, AR
34tamoxifen43 49 28 1211.9CYP19A1, CGA, AR, NR1H2
35vitamin d438.9CYP19A1, CGA, AR, NR1H2
36pge2438.8CYP19A1, AR, CGA, NR1H2
37cycloheximide438.8AR, PTGDS, CGA, CYP19A1
38androstenedione43 249.6AR, CYP19A1, LYVE1, CGA
39paraffin438.6AR, LYVE1, ALPPL2, CGA
40cyproteroneacetate438.6AR, NR1H2, LYVE1, CYP19A1
41bicalutamide43 59 1210.6CYP19A1, AR, NR1H2, LYVE1
42steroidal438.6NR1H2, LYVE1, AR, CYP19A1
43flutamide43 59 1210.1AR, LYVE1, CYP19A1, CGA, NR1H2
44dihydrotestosterone43 28 24 1211.1CYP19A1, LYVE1, NR1H2, AR, CGA
45estradiol43 24 1210.1CYP19A1, LYVE1, CGA, NR1H2, AR
46progesterone43 28 59 24 1212.1CGA, AR, NR1H2, LYVE1, CYP19A1
47steroid438.1CGA, AR, CYP19A1, NR1H2, LYVE1
48arginine438.1CGA, NR1H2, CYP19A1, LYVE1, AR
49testosterone43 59 24 1210.7CYP19A1, NR1H2, LYVE1, CGA, AR, PTGDS
50estrogen437.7LYVE1, CGA, NR1H2, AR, CYP19A1, PTGDS

GO Terms for genes affiliated with Complete Androgen Insensitivity Syndrome

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

idNameGO IDScoreTop Affiliating Genes
1positive regulation of transcription from RNA polymerase II promoterGO:00459449.1AR, CGA, NR1H2
2transportGO:00068108.6AR, LYVE1, PTGDS

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

idNameGO IDScoreTop Affiliating Genes
1ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activityGO:00048799.6AR, NR1H2

Products for genes affiliated with Complete Androgen Insensitivity Syndrome

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Sources for Complete Androgen Insensitivity Syndrome

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet