CAIS
MCID: CMP034
MIFTS: 45

Complete Androgen Insensitivity Syndrome (CAIS) malady

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Summaries for Complete Androgen Insensitivity Syndrome

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65Wikipedia, 33MalaCards
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Wikipedia:65 Complete androgen insensitivity syndrome (CAIS) is a condition that results in the complete inability of... more...

MalaCards: Complete Androgen Insensitivity Syndrome, also known as androgen insensitivity syndrome, complete, is related to androgen insensitivity syndrome and leydig cell tumor. 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 bone, skin and kidney, and related mouse phenotypes are endocrine/exocrine gland and integument.

Aliases & Classifications for Complete Androgen Insensitivity Syndrome

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43NIH Rare Diseases, 20GeneTests, 45Novoseek
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Classifications:

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Global: Genetic diseases, Rare diseases


Aliases & Descriptions:

complete androgen insensitivity syndrome 43
androgen insensitivity syndrome, complete 43 20
androgen insensitivity syndrome complete 45
cais 43


Related Diseases for Complete Androgen Insensitivity Syndrome

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17GeneCards, 18GeneDecks
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Diseases related to Complete Androgen Insensitivity Syndrome via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 60)
idRelated DiseaseScoreTop Affiliating Genes
1androgen insensitivity syndrome32.0LYVE1, CGA, AR
2leydig cell tumor30.9CYP19A1, CGA
3sertoli cell tumor30.5CYP19A1, AR
4seminoma30.4ALPPL2, CGA
5sertoli-leydig cell tumor10.5
6adenoma10.4
7amenorrhea10.3
8gonadal dysgenesis10.3
9leiomyoma10.3
10prostatitis10.3
11vaginitis10.3
12mayer-rokitansky-kuster-hauser syndrome10.3
13swyer syndrome10.3
14microtia10.3
15ovarian disease10.1CYP19A1
16hemangioma10.1LYVE1
17kennedy's disease10.1AR, LYVE1
18endocrine gland cancer10.1CYP19A1, AR
19androgenic alopecia10.1CYP19A1, AR
20prostate disease10.0AR, CYP19A1
21pseudohermaphroditism10.0CYP19A1, AR
22penis agenesis10.0CGA, AR
23oligospermia10.0AR, CGA
24ovarian cyst10.0CGA, CYP19A1
25hypospadias10.0AR, CGA
26ovarian hyperstimulation syndrome10.0CGA, CYP19A1
27anovulation10.0CYP19A1, CGA
28aorta atresia10.0CYP19A1, CGA
29precocious puberty10.0CGA, CYP19A1
30partial androgen insensitivity syndrome10.0CYP19A1, LYVE1, AR
31abrikosov's tumor10.0CYP19A1, CGA
32ischemic retinopathy10.0
33cerebritis10.0
34chronic lymphocytic leukemia10.0
35ischemia10.0
36leukemia10.0
37b-cell chronic lymphocytic leukemia10.0
38teratoma10.0ALPPL2, CGA
39testicular cancer10.0CGA, ALPPL2
40germ cell cancer10.0ALPPL2, AR, CGA
41rickets10.0NR1H2, ALPPL2
42gynecomastia10.0CYP19A1, AR, CGA
43polycystic ovary syndrome10.0CYP19A1, AR, CGA
44klinefelter's syndrome10.0CGA, CYP19A1, AR
45male infertility10.0CYP19A1, AR, CGA
46hyperandrogenism10.0AR, CYP19A1, CGA
47hypogonadism10.0AR, CGA, CYP19A1
48azoospermia10.0PTGDS, CGA, AR
49hyperthyroidism10.0CGA, ALPPL2
50adrenal adenoma10.0CYP19A1, 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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Drugs & Therapeutics for Complete Androgen Insensitivity Syndrome

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42NIH Clinical Center, 6ClinicalTrials, 62UMLS, 41NDF-RT
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Drug clinical trials:

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Search NIH Clinical Center for Complete Androgen Insensitivity Syndrome

Genetic Tests for Complete Androgen Insensitivity Syndrome

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20GeneTests
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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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33MalaCards
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MalaCards organs/tissues related to Complete Androgen Insensitivity Syndrome:

33
Bone, Skin, Kidney, Breast, Prostate, Testis, Testes

Animal Models for Complete Androgen Insensitivity Syndrome or affiliated genes

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37MGI
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MGI Mouse Phenotypes related to Complete Androgen Insensitivity Syndrome:

37
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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52PubMed
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Articles related to Complete Androgen Insensitivity Syndrome:

(show top 50)    (show all 133)
idTitleAuthorsYear
1
A novel arg616Cys mutation in the DNA-binding domain of complete androgen insensitivity syndrome in a Chinese family. (24229697)
2013
2
Complete androgen insensitivity syndrome: a rare case of disorder of sex development. (23533861)
2013
3
Genetic analysis of a family with complete androgen insensitivity syndrome. (24339553)
2013
4
Timing of gonadectomy in adult women with complete androgen insensitivity syndrome (CAIS): patient preferences and clinical evidence. (22211628)
2012
5
A novel nonsense mutation in the N-terminal domain of the androgen receptor gene causes complete androgen insensitivity syndrome. (22943730)
2012
6
Ultrasound findings in a rare case of inguinal testicular torsion in a female with complete androgen insensitivity syndrome. (21998027)
2012
7
A large deletion/insertion-induced frameshift mutation of the androgen receptor gene in a family with a familial complete androgen insensitivity syndrome. (22487869)
2012
8
A novel nonsense mutation in the androgen receptor gene causes the complete androgen insensitivity syndrome. (21757511)
2012
9
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
10
Complete androgen insensitivity syndrome: an anatomic evaluation and sexual function questionnaire pilot study. (20719566)
2011
11
Androgen-dependent measurements of female genitalia in women with complete androgen insensitivity syndrome. (21197679)
2011
12
Male gender identity in complete androgen insensitivity syndrome. (20358272)
2011
13
Familial complete androgen insensitivity syndrome with prostatic tissue and seminal vesicles. (20602105)
2010
14
S578N mutation of the androgen receptor in an adolescent with complete androgen insensitivity syndrome. (20819612)
2010
15
A double nucleotide insertion-induced frame-shift mutation of the androgen receptor gene in a familial complete androgen insensitivity syndrome. (19815331)
2010
16
Apparent male gender identity in a patient with complete androgen insensitivity syndrome. (19636694)
2009
17
Identification of a critical novel mutation in the exon 1 of androgen receptor gene in 2 brothers with complete androgen insensitivity syndrome. (19023143)
2009
18
Body composition and metabolic profile in women with complete androgen insensitivity syndrome. (19752598)
2009
19
Case of sisters with complete androgen insensitivity syndrome and discordant MA1llerian remnants. (18930210)
2009
20
In-vitro characterization of androgen receptor mutations associated with complete androgen insensitivity syndrome reveals distinct functional deficits. (18577874)
2008
21
Normalization of the vagina by dilator treatment alone in Complete Androgen Insensitivity Syndrome and Mayer-Rokitansky-Kuster-Hauser Syndrome. (17449508)
2007
22
Testicular development in the complete androgen insensitivity syndrome. (16400621)
2006
23
Complete androgen insensitivity syndrome: report of a case with solitary pelvic kidney. (16604972)
2006
24
Five novel androgen receptor gene mutations associated with complete androgen insensitivity syndrome. (16470553)
2006
25
Puberty in subjects with complete androgen insensitivity syndrome. (16491011)
2006
26
A novel androgen receptor mutation resulting in complete androgen insensitivity syndrome and bilateral Leydig cell hyperplasia. (16582414)
2006
27
Leydig cell tumor in an elderly patient with complete androgen insensitivity syndrome. (15721441)
2005
28
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
29
Sexual function in women with complete androgen insensitivity syndrome. (12849818)
2003
30
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
31
Complete androgen insensitivity syndrome: effect on human meibomian gland secretions. (12470144)
2002
32
Long-term perspectives for 46,XY patients affected by complete androgen insensitivity syndrome or congenital micropenis. (12428209)
2002
33
Persistence of MA1llerian remnants in complete androgen insensitivity syndrome. (12503865)
2002
34
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
35
Novel amino acid substitutional mutation, tyrosine-739-aspartic acid, in the androgen receptor gene in complete androgen insensitivity syndrome. (11380707)
2001
36
Androgen receptor gene mutation associated with complete androgen insensitivity syndrome and Sertoli cell adenoma. (11293168)
2001
37
A 19 year old with complete androgen insensitivity syndrome and juvenile fibroadenoma of the breast. (11843857)
2001
38
A substitutional mutation in the DNA binding domain of the androgen receptor causes complete androgen insensitivity syndrome. (10599549)
1999
39
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
40
Altered bone mineral density in patients with complete androgen insensitivity syndrome. (9973670)
1998
41
One additional mutation at exon A amplifies thermolability of androgen receptor in a case with complete androgen insensitivity syndrome. (9610419)
1998
42
Shortage of glutamine (CAG) homopolymeric repeats suppresses the expression of the androgen receptor in familial cases with complete androgen insensitivity syndrome. (9526703)
1998
43
Wide variation in androgen receptor dysfunction in complete androgen insensitivity syndrome. (9328206)
1997
44
Complete androgen insensitivity syndrome. Molecular characterization in two Chinese women. (9252933)
1997
45
Laparoscopic gonadectomy in a woman with complete androgen insensitivity syndrome. (9050649)
1996
46
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
47
Premature termination mutation (772Glu-->stop) in the hormone-binding domain of the androgen receptor in a patient with the receptor-negative form of complete androgen insensitivity syndrome. (8574287)
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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1 National Center for Biotechnology Information (Clinvar)
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Clinvar genetic disease variations for Complete Androgen Insensitivity Syndrome:

1
id Gene Name Type Significance SNP ID Assembly Location
1ARNM_000044.3(AR): c.2231G> T (p.Gly744Val)single nucleotide variantPathogenicrs137852600GRCh37Chr X, 66937377: 66937377

Expression for genes affiliated with Complete Androgen Insensitivity Syndrome

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2BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Complete Androgen Insensitivity Syndrome

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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50PathCards, 55Reactome, 38NCBI BioSystems Database, 30KEGG, 60Thomson Reuters
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Pathways related to Complete Androgen Insensitivity Syndrome according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
Nuclear Receptors38
9.6NR1H2, AR
29.4CGA, CYP19A1
3
Show member pathways
9.4CYP19A1, CGA
49.4CYP19A1, CGA
59.0CGA, CYP19A1, AR
6
Show member pathways
7.6ALPPL2, LYVE1, CGA, PTGDS, CYP19A1

Compounds for genes affiliated with Complete Androgen Insensitivity Syndrome

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45Novoseek, 11DrugBank, 61Tocris Bioscience, 29IUPHAR, 24HMDB, 51PharmGKB
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Compounds related to Complete Androgen Insensitivity Syndrome according to GeneCards/GeneDecks:

(show top 50)    (show all 86)
idCompoundScoreTop Affiliating Genes
1vinclozolin459.8AR, CYP19A1
2aroclor 1254459.7AR, CYP19A1
3dutasteride45 1110.7AR, CYP19A1
4androstenediol459.7CYP19A1, AR
5linuron459.7LYVE1, AR
6procymidone459.7LYVE1, AR
7lg 100268459.6CYP19A1, NR1H2
8polyglycine459.6LYVE1, AR
9nafarelin45 61 29 1112.6CGA, CYP19A1
10nandrolone decanoate45 1110.6AR, CYP19A1
11mibolerone45 2910.6LYVE1, AR
12r1881459.6AR, LYVE1
13nandrolone45 2410.5AR, CYP19A1
14letrozole45 51 61 1112.4CYP19A1, CGA, AR
15diethylstilbestrol45 29 1111.4CGA, AR, CYP19A1
163beta-hydroxysteroid459.4CGA, AR, CYP19A1
17estradiol benzoate459.4CYP19A1, CGA
18goserelin45 29 1111.4CYP19A1, CGA
1917beta-hydroxysteroid459.4CGA, CYP19A1, AR
20dehydroepiandrosterone sulfate459.4CYP19A1, AR, CGA
21bisphenol a459.4CYP19A1, NR1H2, AR
22leuprolide45 61 29 1112.3AR, CGA
23ketoconazole45 29 24 1112.3AR, NR1H2, CYP19A1
24progestins459.3NR1H2, AR, CYP19A1
25hydroxyflutamide45 2910.2AR, CGA, LYVE1
26ttnpb45 29 1111.2NR1H2, CYP19A1
27estrone45 29 24 1112.2AR, NR1H2, CYP19A1
28metformin45 51 1111.2CGA, NR1H2, CYP19A1
29vitamin a45 24 1111.1AR, NR1H2, PTGDS, CGA
30troglitazone45 29 61 1112.1AR, NR1H2, CYP19A1
31progestin458.9NR1H2, CGA, AR, CYP19A1
32mifepristone45 29 61 1111.9CYP19A1, NR1H2, CGA, AR
33gnrh458.9CGA, NR1H2, CYP19A1, AR
34tamoxifen45 51 29 1111.9CYP19A1, CGA, AR, NR1H2
35vitamin d458.9CYP19A1, CGA, AR, NR1H2
36pge2458.8CYP19A1, AR, CGA, NR1H2
37cycloheximide458.8AR, PTGDS, CGA, CYP19A1
38androstenedione45 249.6AR, CYP19A1, LYVE1, CGA
39paraffin458.6AR, LYVE1, ALPPL2, CGA
40cyproteroneacetate458.6AR, NR1H2, LYVE1, CYP19A1
41bicalutamide45 61 1110.6CYP19A1, AR, NR1H2, LYVE1
42steroidal458.6NR1H2, LYVE1, AR, CYP19A1
43flutamide45 61 1110.1AR, LYVE1, CYP19A1, CGA, NR1H2
44dihydrotestosterone45 29 24 1111.1CYP19A1, LYVE1, NR1H2, AR, CGA
45estradiol45 24 1110.1CYP19A1, LYVE1, CGA, NR1H2, AR
46progesterone45 29 61 24 1112.1CGA, AR, NR1H2, LYVE1, CYP19A1
47steroid458.1CGA, AR, CYP19A1, NR1H2, LYVE1
48arginine458.1CGA, NR1H2, CYP19A1, LYVE1, AR
49testosterone45 61 24 1110.7CYP19A1, NR1H2, LYVE1, CGA, AR, PTGDS
50estrogen457.7LYVE1, CGA, NR1H2, AR, CYP19A1, PTGDS

GO Terms for genes affiliated with Complete Androgen Insensitivity Syndrome

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16Gene Ontology
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Biological processes related to Complete Androgen Insensitivity Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1positive regulation of transcription from RNA polymerase II promoterGO:0459449.1AR, CGA, NR1H2
2transportGO:0068108.6AR, LYVE1, PTGDS

Molecular functions related to Complete Androgen Insensitivity Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activityGO:0048799.6AR, NR1H2

Products for genes affiliated with Complete Androgen Insensitivity Syndrome

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Sources for Complete Androgen Insensitivity Syndrome

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4CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet