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:
66UMLS, 46NIH Rare Diseases, 23GeneTests, 52Orphanet, 48Novoseek, 29ICD10 via Orphanet
See all MalaCards sources

Aliases & Descriptions for Complete Androgen Insensitivity Syndrome:

Name: Complete Androgen Insensitivity Syndrome 46 23 52
Cais 46 23 52
Androgen Insensitivity Syndrome, Complete 46
Complete Testicular Feminization Syndrome 23
 
Androgen Insensitivity Syndrome Complete 48
Complete Androgen Resistance Syndrome 52
Testicular Feminization 66

Characteristics:

Orphanet epidemiological data:

52
complete androgen insensitivity syndrome:
Inheritance: X-linked recessive; Age of onset: All ages; Age of death: normal life expectancy

Classifications:



External Ids:

Orphanet52 ORPHA99429
ICD10 via Orphanet29 E34.5

Summaries for Complete Androgen Insensitivity Syndrome

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NIH Rare Diseases:46 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 androgen insensitivity and dystonia-parkinsonism, x-linked, 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 Transcription_Role of VDR in regulation of genes involved in osteoporosis and Cell adhesion_Cell-matrix glycoconjugates. Affiliated tissues include uterus, breast and testes, and related mouse phenotype liver/biliary system.

Wikipedia:69 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 62)
idRelated DiseaseScoreTop Affiliating Genes
1androgen insensitivity11.8
2dystonia-parkinsonism, x-linked10.7AR, LYVE1
3pemphigus vulgaris, familial10.6AR, MUC1
4adenocarcinoma in situ10.6AR, MUC1
5short-rib thoracic dysplasia 1210.5LYVE1, MUC1
6poliomyelitis10.5AR, MUC1
7l-cell glucagon-like peptide producing tumor10.5LYVE1, MUC1
8leukorrhea10.4AR, SRY
9tetraamelia with pulmonary hypoplasia10.4CGA, SRY
10bartholin's gland small cell carcinoma10.4AR, MUC5AC
11breast metaplastic carcinoma10.3MUC1, MUC5AC
12lacrimal gland mucoepidermoid carcinoma10.3MUC1, MUC5AC
13gaucher's disease10.3AR, SRY
14scotoma10.3MUC1, MUC5AC
15tricuspid valve insufficiency10.3MUC1, MUC5AC
16syringomyelia10.3MUC1, MUC5AC
17diabetes mellitus, insulin-resistant, with acanthosis nigricans10.3ALPPL2, AR, CGA
18plasmacytic leukemia10.3MUC1, MUC5AC
19inguinal hernia10.3
20prolapse of lacrimal gland10.3AR, SRY
21ovarian serous adenofibroma10.3MUC1, MUC5AC
22freemartinism10.3MUC1, MUC5AC
23chronic perichondritis of pinna10.3IGF2, PTGDS
24mongolian spot10.3AR, NR1H2
25encephalopahty, lethal, due to defective mitochondrial peroxisomal fission10.3MUC1, MUC5AC
26epilepsy with generalized tonic-clonic seizures10.3MUC1, MUC5AC
27liver disease10.3MUC1, MUC5AC
28leydig cell tumor10.3
29spindle cell synovial sarcoma10.2MUC1, SRY
30kummell's disease10.2MUC1, MUC5AC
31sertoli-leydig cell tumor10.2
32adenomyosis10.2MUC1, MUC5AC
33sphenoid sinusitis10.2LYVE1, MUC5AC
34pancreatic non-invasive mucinous cystadenocarcinoma10.2MUC1, MUC5AC
35vagina leiomyoma10.2IGF2, IGFBP3
36omphalocele10.2MUC1, MUC5AC
37growth hormone insensitivity, partial10.2IGF2, IGFBP3
38breast scirrhous carcinoma10.1MUC1, MUC5AC
39fetal methyl mercury syndrome10.1IGF2, IGFBP3
40hydronephrosis, congenital, with cleft palate, characteristic facies, hypotonia, and mental retardation10.1ALPPL2, SRY
41amenorrhea10.1
42adenoma10.1
43adult brainstem gliosarcoma10.1AR, SRY
44hemangioma of lung10.0MUC1, MUC5AC
45glioma susceptibility 110.0IGF2, MUC1
46myoclonic cerebellar dyssynergia10.0AR, SRY
47mayer-rokitansky-kuster-hauser syndrome9.9
48leiomyoma9.9
49gonadal dysgenesis9.9
50prostatitis9.9

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:

 52 (show all 16)
  • inguinal hernia
  • cryptorchidism
  • testicular gonadoblastoma
  • male pseudohermaphroditism
  • aplasia of the uterus
  • sensory neuropathy
  • gynecomastia
  • primary amenorrhea
  • nephrolithiasis
  • infertility
  • osteoporosis
  • tremor
  • absent axillary hair
  • absent pubic hair
  • muscle cramps
  • aplasia/hypoplasia of the fallopian tube

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 Syndrome23 AR

Anatomical Context for Complete Androgen Insensitivity Syndrome

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MalaCards organs/tissues related to Complete Androgen Insensitivity Syndrome:

34
Uterus, Breast, Testes, Cervix, Bone, Skin, Brain

Animal Models for Complete Androgen Insensitivity Syndrome or affiliated genes

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MGI Mouse Phenotypes related to Complete Androgen Insensitivity Syndrome:

39
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053708.3AR, IGF2, IGFBP2, IGFBP3, NR1H2

Publications for Complete Androgen Insensitivity Syndrome

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Articles related to Complete Androgen Insensitivity Syndrome:

(show top 50)    (show all 161)
idTitleAuthorsYear
1
Mutational analysis of the androgen receptor gene in two Chinese families with complete androgen insensitivity syndrome. (27284311)
2016
2
Complete androgen insensitivity syndrome associated with male gender identity or female precocious puberty in the same family. (25633053)
2015
3
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
4
A novel insA2933 causes premature termination of translation and is accompanied by overexpression of truncated androgen receptor gene in a patient with complete androgen insensitivity syndrome. (25997614)
2015
5
Usefulness and role of magnetic resonance imaging in a case of complete androgen insensitivity syndrome. (27398128)
2015
6
A novel mutation of the androgen receptor gene in familial complete androgen insensitivity syndrome. (26592841)
2015
7
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
8
Complete androgen insensitivity syndrome in juveniles and adults with female phenotypes. (25170741)
2014
9
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
10
Genetic analysis of a family with complete androgen insensitivity syndrome. (24339553)
2013
11
Evaluation of retained testes in adolescent girls and women with complete androgen insensitivity syndrome. (23533290)
2013
12
Complete androgen insensitivity syndrome: factors influencing gonadal histology including germ cell pathology. (24186138)
2013
13
Timing of gonadectomy in adult women with complete androgen insensitivity syndrome (CAIS): patient preferences and clinical evidence. (22211628)
2012
14
A novel nonsense mutation in the N-terminal domain of the androgen receptor gene causes complete androgen insensitivity syndrome. (22943730)
2012
15
A large deletion/insertion-induced frameshift mutation of the androgen receptor gene in a family with a familial complete androgen insensitivity syndrome. (22487869)
2012
16
A novel nonsense mutation in the androgen receptor gene causes the complete androgen insensitivity syndrome. (21757511)
2012
17
Novel androgen receptor gene mutation in patient with complete androgen insensitivity syndrome. (22608796)
2012
18
XY Female with Complete Androgen Insensitivity Syndrome with Bilateral Inguinal Hernia. (24293881)
2012
19
A case of complete androgen insensitivity syndrome with a novel androgen receptor mutation. (23329762)
2012
20
Androgen-dependent measurements of female genitalia in women with complete androgen insensitivity syndrome. (21197679)
2011
21
Hormonal management of complete androgen insensitivity syndrome from adolescence onward. (22156544)
2011
22
A double nucleotide insertion-induced frame-shift mutation of the androgen receptor gene in a familial complete androgen insensitivity syndrome. (19815331)
2010
23
Disorders of sexual differentiation: surgical challenges of vaginal reconstruction in complete androgen insensitivity syndrome (CAIS). (20336898)
2010
24
Identification of a critical novel mutation in the exon 1 of androgen receptor gene in 2 brothers with complete androgen insensitivity syndrome. (19023143)
2009
25
Case of sisters with complete androgen insensitivity syndrome and discordant MA1llerian remnants. (18930210)
2009
26
Mutation analysis of the androgen receptor gene in a complete androgen insensitivity syndrome family]. (19953479)
2009
27
In-vitro characterization of androgen receptor mutations associated with complete androgen insensitivity syndrome reveals distinct functional deficits. (18577874)
2008
28
Complete androgen insensitivity syndrome--a review. (19064222)
2008
29
Familial complete androgen insensitivity syndrome (Morris syndrome or testicular feminization syndrome) in 2 sisters. (18418092)
2008
30
Normalization of the vagina by dilator treatment alone in Complete Androgen Insensitivity Syndrome and Mayer-Rokitansky-Kuster-Hauser Syndrome. (17449508)
2007
31
Testicular development in the complete androgen insensitivity syndrome. (16400621)
2006
32
Puberty in subjects with complete androgen insensitivity syndrome. (16491011)
2006
33
A novel androgen receptor mutation resulting in complete androgen insensitivity syndrome and bilateral Leydig cell hyperplasia. (16582414)
2006
34
Treatment dilemmas after gonadectomy in complete androgen insensitivity syndrome. (16263555)
2005
35
Distributional map of the terminal and sub-terminal sugar residues of the glycoconjugates in the prepubertal and postpubertal testis of a subject affected by complete androgen insensitivity syndrome (Morris's syndrome): lectin histochemical study. (14702164)
2004
36
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
37
Psychological outcomes and gender-related development in complete androgen insensitivity syndrome. (12710824)
2003
38
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
39
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
40
Novel amino acid substitutional mutation, tyrosine-739-aspartic acid, in the androgen receptor gene in complete androgen insensitivity syndrome. (11380707)
2001
41
A 19 year old with complete androgen insensitivity syndrome and juvenile fibroadenoma of the breast. (11843857)
2001
42
Bilateral MA1llerian duct remnants. A scanning electron microscope study in a case of complete androgen insensitivity syndrome. (15512392)
1999
43
One additional mutation at exon A amplifies thermolability of androgen receptor in a case with complete androgen insensitivity syndrome. (9610419)
1998
44
Shortage of glutamine (CAG) homopolymeric repeats suppresses the expression of the androgen receptor in familial cases with complete androgen insensitivity syndrome. (9526703)
1998
45
A new missense substitution at a mutational hot spot of the androgen receptor in siblings with complete androgen insensitivity syndrome. (9554754)
1998
46
Complete androgen insensitivity syndrome. Molecular characterization in two Chinese women. (9252933)
1997
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
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
49
Leu-676-Pro mutation of the androgen receptor causes complete androgen insensitivity syndrome in a large Hutterite kindred. (7537149)
1995
50
Gonadotropin regulation during puberty in complete androgen insensitivity syndrome with testicles in situ. (7698719)
1994

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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GO Terms for genes affiliated with Complete Androgen Insensitivity Syndrome

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

idNameGO IDScoreTop Affiliating Genes
1Golgi lumenGO:00057969.8CGA, MUC1, MUC5AC
2extracellular spaceGO:00056157.3IGF2, IGFBP2, IGFBP3, MUC1, MUC5AC, PTGDS
3extracellular exosomeGO:00700627.1IGF2, IGFBP2, IGFBP3, LYVE1, MUC1, MUC5AC

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

idNameGO IDScoreTop Affiliating Genes
1positive regulation of insulin-like growth factor receptor signaling pathwayGO:004356810.2AR, IGFBP3
2regulation of insulin-like growth factor receptor signaling pathwayGO:00435679.9IGFBP2, IGFBP3
3positive regulation of activated T cell proliferationGO:00421049.6IGF2, IGFBP2
4positive regulation of MAPK cascadeGO:00434109.4AR, IGF2, IGFBP3
5cellular protein metabolic processGO:00442678.7IGF2, IGFBP2, IGFBP3
6female pregnancyGO:00075658.6IGF2, IGFBP2, MUC1

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

idNameGO IDScoreTop Affiliating Genes
1RNA polymerase II transcription factor activity, ligand-activated sequence-specific DNA bindingGO:000487910.1AR, NR1H2
2insulin-like growth factor II bindingGO:00319959.7IGFBP2, IGFBP3
3insulin-like growth factor I bindingGO:00319949.7IGFBP2, IGFBP3
4insulin-like growth factor bindingGO:00055209.3IGFBP2, IGFBP3

Sources for Complete Androgen Insensitivity Syndrome

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet