CAIS
MCID: CMP034
MIFTS: 45

Complete Androgen Insensitivity Syndrome (CAIS) malady

Genetic diseases, Rare diseases categories

Summaries for Complete Androgen Insensitivity Syndrome

About this section
Sources:
66Wikipedia, 34MalaCards
See all sources

Fully expand this MalaCard

Download this MalaCard
Wikipedia:66 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

About this section
Sources:
44NIH Rare Diseases, 21GeneTests, 46Novoseek
See all sources

Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases


Aliases & Descriptions:

complete androgen insensitivity syndrome 44
androgen insensitivity syndrome, complete 44 21
androgen insensitivity syndrome complete 46
cais 44


Related Diseases for Complete Androgen Insensitivity Syndrome

About this section
Sources:
18GeneCards, 19GeneDecks
See all sources

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

About this section

Drugs & Therapeutics for Complete Androgen Insensitivity Syndrome

About this section
Sources:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials, 63UMLS, 42NDF-RT
See all sources

Approved drugs:

Search CenterWatch for Complete Androgen Insensitivity Syndrome

Drug clinical trials:

Search ClinicalTrials for Complete Androgen Insensitivity Syndrome

Search NIH Clinical Center for Complete Androgen Insensitivity Syndrome

Search CenterWatch for Complete Androgen Insensitivity Syndrome

Genetic Tests for Complete Androgen Insensitivity Syndrome

About this section
Sources:
21GeneTests
See all sources

Genetic tests related to Complete Androgen Insensitivity Syndrome:

id Genetic test Affiliating Genes
1 Complete Androgen Insensitivity Syndrome21

Anatomical Context for Complete Androgen Insensitivity Syndrome

About this section
Sources:
34MalaCards
See all sources

MalaCards organs/tissues related to Complete Androgen Insensitivity Syndrome:

34
Bone, Skin, Kidney, Breast, Prostate, Testis, Testes

Animal Models for Complete Androgen Insensitivity Syndrome or affiliated genes

About this section
Sources:
38MGI
See all sources

MGI Mouse Phenotypes related to Complete Androgen Insensitivity Syndrome:

38
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

About this section
Sources:
53PubMed
See all sources

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

About this section
Sources:
1 National Center for Biotechnology Information (Clinvar)
See all sources

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

About this section
Sources:
2BioGPS, 16Gene Expression Omnibus DataSets
See all sources
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

About this section
Sources:
51PathCards, 56Reactome, 39NCBI BioSystems Database, 31KEGG, 61Thomson Reuters
See all sources

Pathways related to Complete Androgen Insensitivity Syndrome according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
Nuclear Receptors39
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

About this section
Sources:
46Novoseek, 12DrugBank, 62Tocris Bioscience, 30IUPHAR, 25HMDB, 52PharmGKB
See all sources

Compounds related to Complete Androgen Insensitivity Syndrome according to GeneCards/GeneDecks:

(show top 50)    (show all 86)
idCompoundScoreTop Affiliating Genes
1vinclozolin469.8AR, CYP19A1
2aroclor 1254469.7AR, CYP19A1
3dutasteride46 1210.7AR, CYP19A1
4androstenediol469.7CYP19A1, AR
5linuron469.7LYVE1, AR
6procymidone469.7LYVE1, AR
7lg 100268469.6CYP19A1, NR1H2
8polyglycine469.6LYVE1, AR
9nafarelin46 62 30 1212.6CGA, CYP19A1
10nandrolone decanoate46 1210.6AR, CYP19A1
11mibolerone46 3010.6LYVE1, AR
12r1881469.6AR, LYVE1
13nandrolone46 2510.5AR, CYP19A1
14letrozole46 52 62 1212.4CYP19A1, CGA, AR
15diethylstilbestrol46 30 1211.4CGA, AR, CYP19A1
163beta-hydroxysteroid469.4CGA, AR, CYP19A1
17estradiol benzoate469.4CYP19A1, CGA
18goserelin46 30 1211.4CYP19A1, CGA
1917beta-hydroxysteroid469.4CGA, CYP19A1, AR
20dehydroepiandrosterone sulfate469.4CYP19A1, AR, CGA
21bisphenol a469.4CYP19A1, NR1H2, AR
22leuprolide46 62 30 1212.3AR, CGA
23ketoconazole46 30 25 1212.3AR, NR1H2, CYP19A1
24progestins469.3NR1H2, AR, CYP19A1
25hydroxyflutamide46 3010.2AR, CGA, LYVE1
26ttnpb46 30 1211.2NR1H2, CYP19A1
27estrone46 30 25 1212.2AR, NR1H2, CYP19A1
28metformin46 52 1211.2CGA, NR1H2, CYP19A1
29vitamin a46 25 1211.1AR, NR1H2, PTGDS, CGA
30troglitazone46 30 62 1212.1AR, NR1H2, CYP19A1
31progestin468.9NR1H2, CGA, AR, CYP19A1
32mifepristone46 30 62 1211.9CYP19A1, NR1H2, CGA, AR
33gnrh468.9CGA, NR1H2, CYP19A1, AR
34tamoxifen46 52 30 1211.9CYP19A1, CGA, AR, NR1H2
35vitamin d468.9CYP19A1, CGA, AR, NR1H2
36pge2468.8CYP19A1, AR, CGA, NR1H2
37cycloheximide468.8AR, PTGDS, CGA, CYP19A1
38androstenedione46 259.6AR, CYP19A1, LYVE1, CGA
39paraffin468.6AR, LYVE1, ALPPL2, CGA
40cyproteroneacetate468.6AR, NR1H2, LYVE1, CYP19A1
41bicalutamide46 62 1210.6CYP19A1, AR, NR1H2, LYVE1
42steroidal468.6NR1H2, LYVE1, AR, CYP19A1
43flutamide46 62 1210.1AR, LYVE1, CYP19A1, CGA, NR1H2
44dihydrotestosterone46 30 25 1211.1CYP19A1, LYVE1, NR1H2, AR, CGA
45estradiol46 25 1210.1CYP19A1, LYVE1, CGA, NR1H2, AR
46progesterone46 30 62 25 1212.1CGA, AR, NR1H2, LYVE1, CYP19A1
47steroid468.1CGA, AR, CYP19A1, NR1H2, LYVE1
48arginine468.1CGA, NR1H2, CYP19A1, LYVE1, AR
49testosterone46 62 25 1210.7CYP19A1, NR1H2, LYVE1, CGA, AR, PTGDS
50estrogen467.7LYVE1, CGA, NR1H2, AR, CYP19A1, PTGDS

GO Terms for genes affiliated with Complete Androgen Insensitivity Syndrome

About this section
Sources:
17Gene Ontology
See all sources

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

About this section
  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Complete Androgen Insensitivity Syndrome

About this section
4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet