CAIS
MCID: CMP034
MIFTS: 46

Complete Androgen Insensitivity Syndrome (CAIS) malady

Genetic diseases, Rare diseases categories
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Summaries for Complete Androgen Insensitivity Syndrome

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Wikipedia:65 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 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 brain, and related mouse phenotypes are endocrine/exocrine gland and integument.

Aliases & Classifications for Complete Androgen Insensitivity Syndrome

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Sources:
42NIH Rare Diseases, 20GeneTests, 44Novoseek, 62UMLS
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Complete Androgen Insensitivity Syndrome, Aliases & Descriptions:

Name: Complete Androgen Insensitivity Syndrome 42
Androgen Insensitivity Syndrome, Complete 42 20
Androgen-Insensitivity Syndrome, Complete 62
 
Androgen Insensitivity Syndrome Complete 44
Cais 42


Classifications:

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


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/GeneDecks gene sharing:

(show top 50)    (show all 60)
idRelated DiseaseScoreTop Affiliating Genes
1androgen insensitivity syndrome31.7AR, NR1H2, LYVE1, CYP19A1
2leydig cell tumor31.1CYP19A1, CGA
3sertoli cell tumor30.8CYP19A1, AR
4seminoma30.2CGA, ALPPL2
5sertoli-leydig cell tumor10.6
6adenoma10.4
7ovarian disease10.4CYP19A1
8hemangioma10.3LYVE1
9kennedy's disease10.3AR, LYVE1
10amenorrhea10.3
11cystadenofibroma10.3
12gonadal dysgenesis10.3
13leiomyoma10.3
14prostatitis10.3
15vaginitis10.3
16mayer-rokitansky-kuster-hauser syndrome10.3
17swyer syndrome10.3
18microtia10.3
19endocrine gland cancer10.2AR, CYP19A1
20androgenetic alopecia10.2CYP19A1, AR
21prostate disease10.2CYP19A1, AR
22pseudohermaphroditism10.2AR, CYP19A1
23penis agenesis10.2CGA, AR
24oligospermia10.1AR, CGA
25ovarian cyst10.1CYP19A1, CGA
26hypospadias10.1AR, CGA
27ovarian hyperstimulation syndrome10.1CYP19A1, CGA
28anovulation10.1CGA, CYP19A1
29aorta atresia10.1CYP19A1, CGA
30precocious puberty10.1CGA, CYP19A1
31partial androgen insensitivity syndrome10.1AR, LYVE1, CYP19A1
32abrikosov's tumor10.1CYP19A1, CGA
33teratoma10.1CGA, ALPPL2
34testicular cancer10.0ALPPL2, CGA
35chronic lymphocytic leukemia10.0
36leukemia10.0
37cerebritis10.0
38ischemia10.0
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
49hyperthyroidism10.0CGA, 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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Drugs & Therapeutics for Complete Androgen Insensitivity Syndrome

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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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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:

32
Bone, Skin, Brain, Kidney, Breast, Prostate, Testis, Testes

Animal Models for Complete Androgen Insensitivity Syndrome or affiliated genes

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MGI Mouse Phenotypes related to Complete Androgen Insensitivity Syndrome:

36
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 144)
idTitleAuthorsYear
1
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
2
Complete androgen insensitivity syndrome in juveniles and adults with female phenotypes. (25170741)
2014
3
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
4
Diagnostic laparoscopy in a twelve year old girl with right iliac fossa pain: A life changing diagnosis of complete androgen insensitivity syndrome. (24995665)
2014
5
A novel arg616Cys mutation in the DNA-binding domain of complete androgen insensitivity syndrome in a Chinese family. (24229697)
2013
6
Complete androgen insensitivity syndrome: a rare case of disorder of sex development. (23533861)
2013
7
Timing of gonadectomy in adult women with complete androgen insensitivity syndrome (CAIS): patient preferences and clinical evidence. (22211628)
2012
8
A novel nonsense mutation in the N-terminal domain of the androgen receptor gene causes complete androgen insensitivity syndrome. (22943730)
2012
9
Ultrasound findings in a rare case of inguinal testicular torsion in a female with complete androgen insensitivity syndrome. (21998027)
2012
10
A large deletion/insertion-induced frameshift mutation of the androgen receptor gene in a family with a familial complete androgen insensitivity syndrome. (22487869)
2012
11
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
12
Complete androgen insensitivity syndrome: an anatomic evaluation and sexual function questionnaire pilot study. (20719566)
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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Expression for genes affiliated with Complete Androgen Insensitivity Syndrome

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Expression patterns in normal tissues for genes affiliated with Complete Androgen Insensitivity Syndrome

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Pathways for genes affiliated with Complete Androgen Insensitivity Syndrome

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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 Receptors37
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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Compounds related to Complete Androgen Insensitivity Syndrome according to GeneCards/GeneDecks:

(show top 50)    (show all 86)
idCompoundScoreTop Affiliating Genes
1vinclozolin449.8AR, CYP19A1
2aroclor 1254449.7AR, CYP19A1
3dutasteride44 1110.7AR, CYP19A1
4androstenediol449.7CYP19A1, AR
5linuron449.7LYVE1, AR
6procymidone449.7LYVE1, AR
7lg 100268449.6CYP19A1, NR1H2
8polyglycine449.6LYVE1, AR
9nafarelin44 61 28 1112.6CGA, CYP19A1
10nandrolone decanoate44 1110.6AR, CYP19A1
11mibolerone44 2810.6LYVE1, AR
12r1881449.6AR, LYVE1
13nandrolone44 2410.5AR, CYP19A1
14letrozole44 50 61 1112.4CYP19A1, CGA, AR
15diethylstilbestrol44 28 1111.4CGA, AR, CYP19A1
163beta-hydroxysteroid449.4CGA, AR, CYP19A1
17estradiol benzoate449.4CYP19A1, CGA
18goserelin44 28 1111.4CYP19A1, CGA
1917beta-hydroxysteroid449.4CGA, CYP19A1, AR
20dehydroepiandrosterone sulfate449.4CYP19A1, AR, CGA
21bisphenol a449.4CYP19A1, NR1H2, AR
22leuprolide44 61 28 1112.3AR, CGA
23ketoconazole44 28 24 1112.3AR, NR1H2, CYP19A1
24progestins449.3NR1H2, AR, CYP19A1
25hydroxyflutamide44 2810.2AR, CGA, LYVE1
26ttnpb44 28 1111.2NR1H2, CYP19A1
27estrone44 28 24 1112.2AR, NR1H2, CYP19A1
28metformin44 50 1111.2CGA, NR1H2, CYP19A1
29vitamin a44 24 1111.1AR, NR1H2, PTGDS, CGA
30troglitazone44 28 61 1112.1AR, NR1H2, CYP19A1
31progestin448.9NR1H2, CGA, AR, CYP19A1
32mifepristone44 28 61 1111.9CYP19A1, NR1H2, CGA, AR
33gnrh448.9CGA, NR1H2, CYP19A1, AR
34tamoxifen44 50 28 1111.9CYP19A1, CGA, AR, NR1H2
35vitamin d448.9CYP19A1, CGA, AR, NR1H2
36pge2448.8CYP19A1, AR, CGA, NR1H2
37cycloheximide448.8AR, PTGDS, CGA, CYP19A1
38androstenedione44 249.6AR, CYP19A1, LYVE1, CGA
39paraffin448.6AR, LYVE1, ALPPL2, CGA
40cyproteroneacetate448.6AR, NR1H2, LYVE1, CYP19A1
41bicalutamide44 61 1110.6CYP19A1, AR, NR1H2, LYVE1
42steroidal448.6NR1H2, LYVE1, AR, CYP19A1
43flutamide44 61 1110.1AR, LYVE1, CYP19A1, CGA, NR1H2
44dihydrotestosterone44 28 24 1111.1CYP19A1, LYVE1, NR1H2, AR, CGA
45estradiol44 24 1110.1CYP19A1, LYVE1, CGA, NR1H2, AR
46progesterone44 28 61 24 1112.1CGA, AR, NR1H2, LYVE1, CYP19A1
47steroid448.1CGA, AR, CYP19A1, NR1H2, LYVE1
48arginine448.1CGA, NR1H2, CYP19A1, LYVE1, AR
49testosterone44 61 24 1110.7CYP19A1, NR1H2, LYVE1, CGA, AR, PTGDS
50estrogen447.7LYVE1, 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/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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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet