MCID: CMP034
MIFTS: 42

Complete Androgen Insensitivity Syndrome malady

Categories: Genetic diseases, Rare diseases, Reproductive diseases, Endocrine diseases, Fetal diseases

Aliases & Classifications for Complete Androgen Insensitivity Syndrome

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

Aliases & Descriptions for Complete Androgen Insensitivity Syndrome:

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

Characteristics:

Orphanet epidemiological data:

51
complete androgen insensitivity syndrome:
Inheritance: X-linked recessive; Age of onset: All ages; Age of death: normal life expectancy

Classifications:



External Ids:

Orphanet51 99429
ICD10 via Orphanet28 E34.5

Summaries for Complete Androgen Insensitivity Syndrome

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NIH Rare Diseases:45 Complete androgen insensitivity syndrome is a condition that affects sexual development before birth and during puberty. people with this condition are genetically male (one x and one y chromosome) but do not respond to male hormones at all. as a result, they generally have normal female external genitalia and female breasts. however, they do not have a uterus or cervix so are unable to menstruate or conceive children. other signs and symptoms may include undescended testes and sparse to absent pubic hair. gender identity is typically female. complete androgen insensitivity syndrome is caused by changes (mutations) in the ar gene and is inherited in an x-linked manner. treatment and gender assignment can be a very complex issue, and must be individualized with each affected person. in general, surgery may be required to remove testes that are located in unusual places and estrogen replacement therapy can be prescribed after puberty. last updated: 11/18/2015

MalaCards based summary: Complete Androgen Insensitivity Syndrome, also known as cais, is related to leiomyoma and androgen insensitivity, 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 Ovarian steroidogenesis and FSH signaling pathway. Affiliated tissues include breast, testes and uterus, and related mouse phenotype reproductive system.

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

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 59)
idRelated DiseaseScoreTop Affiliating Genes
1leiomyoma28.6AR, CGA, CYP19A1, SHBG
2androgen insensitivity11.8
3penoscrotal transposition10.4AR, CGA
4ehlers-danlos syndrome progeroid type10.3AR, SHBG
5scleromalacia perforans10.3AR, SHBG
6benign prostate phyllodes tumor10.3AR, SHBG
7inguinal hernia10.3
8umbilical hernia10.3AR, PTGDS
9leydig cell tumor10.3
10hidradenitis suppurativa10.3AR, SHBG
11erythema infectiosum10.2CGA, SHBG
12sertoli-leydig cell tumor10.2
13pelvic varices10.1ALPPL2, NR1H2
14siberian tick typhus10.1AR, CYP19A1
15adenoma10.1
16retroperitoneal sarcoma10.1AR, CYP19A1
17prostatic cyst10.0AR, CYP19A1
18leukorrhea10.0AR, CYP19A1
19testicular spermatocytic seminoma10.0CGA, CYP19A1
20hypothalamic disease10.0ALPPL2, AR
21pseudohermaphroditism10.0AR, CGA, SHBG
22paroxysmal choreoathetosis10.0AR, CYP19A1
23sex differentiation disease9.9AR, CYP19A1
24female reproductive endometrioid cancer9.9AR, CGA, SHBG
25autonomic nervous system disease9.9NR1H2, PTGDS
26amenorrhea9.9
27gonadal dysgenesis9.9
28prostatitis9.9
29vaginitis9.9
30sertoli cell tumor9.9
31seminoma9.9
32cystadenofibroma9.9
33mayer-rokitansky-kuster-hauser syndrome9.9
34precocious puberty9.9
35swyer syndrome9.9
36microtia9.9
37cervical alveolar soft part sarcoma9.9ALPPL2, CGA
38frontal convexity meningioma9.9CGA, SHBG
39suppurative thyroiditis9.9CYP19A1, SHBG
40estrogen-receptor positive breast cancer9.9AR, CYP19A1
41hypolipoproteinemia9.9CYP19A1, SHBG
42ovarian hyperstimulation syndrome9.8CGA, CYP19A1
43large cell medulloblastoma9.8ALPPL2, AR, SHBG
44leptospirosis9.8CYP19A1, SHBG
45verrucous keratotic hemangioma9.7AR, CYP19A1, NR1H2
46acute biphenotypic leukemia9.7AR, SHBG
47penile cancer9.7CYP19A1, SHBG
48steroid inherited metabolic disorder9.6AR, CYP19A1
49epilepsy, idiopathic generalized 119.6AR, CYP19A1, SHBG
50hypogonadism9.6AR, CYP19A1, SHBG

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
Breast, Testes, Uterus, Cervix, Prostate, Bone, Thyroid

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:00053898.2ALPPL2, AR, CGA, CYP19A1, NR1H2

Publications for Complete Androgen Insensitivity Syndrome

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Articles related to Complete Androgen Insensitivity Syndrome:

(show top 50)    (show all 156)
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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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 pathwaysScoreTop Affiliating Genes
19.4CGA, CYP19A1
29.4CGA, CYP19A1
39.3AR, SHBG
49.1AR, CGA, CYP19A1

GO Terms for genes affiliated with Complete Androgen Insensitivity Syndrome

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

idNameGO IDScoreTop Affiliating Genes
1transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific bindingGO:00010779.8AR, NR1H2

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