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:
24GeneTests, 31ICD10 via Orphanet, 48NIH Rare Diseases, 50Novoseek, 54Orphanet, 68UMLS
See all MalaCards sources

Aliases & Descriptions for Complete Androgen Insensitivity Syndrome:

Name: Complete Androgen Insensitivity Syndrome 48 24 54
Cais 48 24 54
Complete Testicular Feminization Syndrome 24
Androgen Insensitivity Syndrome, Complete 48
 
Androgen Insensitivity Syndrome Complete 50
Complete Androgen Resistance Syndrome 54
Testicular Feminization 68

Characteristics:

Orphanet epidemiological data:

54
complete androgen insensitivity syndrome:
Inheritance: X-linked recessive; Age of onset: All ages; Age of death: normal life expectancy

Classifications:



External Ids:

Orphanet54 ORPHA99429
ICD10 via Orphanet31 E34.5

Summaries for Complete Androgen Insensitivity Syndrome

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NIH Rare Diseases:48 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 pemphigus vulgaris, familial, 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 Nongenotropic Androgen signaling and FSH signaling pathway. Affiliated tissues include bone, uterus and skin, and related mouse phenotypes are liver/biliary system and immune system.

Wikipedia:71 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 78)
idRelated DiseaseScoreTop Affiliating Genes
1androgen insensitivity11.7
2pemphigus vulgaris, familial10.6AR, MUC1
3adenocarcinoma in situ10.6AR, MUC1
4short-rib thoracic dysplasia 1210.5LYVE1, MUC1
5poliomyelitis10.5AR, MUC1
6chronic perichondritis of pinna10.5IGF2, PTGDS
7vagina leiomyoma10.5IGF2, IGFBP3
8l-cell glucagon-like peptide producing tumor10.5LYVE1, MUC1
9growth hormone insensitivity, partial10.5IGF2, IGFBP3
10fetal methyl mercury syndrome10.5IGF2, IGFBP3
11tetraamelia with pulmonary hypoplasia10.4CGA, SRY
12multifocal osteogenic sarcoma10.3IGFBP2, IGFBP3
13spindle cell synovial sarcoma10.3MUC1, SRY
14breast metaplastic carcinoma10.3MUC1, MUC5AC
15lacrimal gland mucoepidermoid carcinoma10.3MUC1, MUC5AC
16scotoma10.3MUC1, MUC5AC
17tricuspid valve insufficiency10.3MUC1, MUC5AC
18glioma susceptibility 110.2IGF2, MUC1
19syringomyelia10.2MUC1, MUC5AC
20plasmacytic leukemia10.2MUC1, MUC5AC
21ovarian serous adenofibroma10.2MUC1, MUC5AC
22freemartinism10.2MUC1, MUC5AC
23bartholin's gland small cell carcinoma10.2AR, MUC5AC
24encephalopahty, lethal, due to defective mitochondrial peroxisomal fission10.2MUC1, MUC5AC
25epilepsy with generalized tonic-clonic seizures10.2MUC1, MUC5AC
26inguinal hernia10.2
27liver disease10.2MUC1, MUC5AC
28cerebellar vermis medulloblastoma10.2AR, IGFBP3, SHBG
29leydig cell tumor10.1
30gastrojejunal ulcer10.1AR, CYP19A1
31retroperitoneum carcinoma10.1AR, CYP19A1
32kummell's disease10.1MUC1, MUC5AC
33adenomyosis10.1MUC1, MUC5AC
34pancreatic non-invasive mucinous cystadenocarcinoma10.1MUC1, MUC5AC
35sertoli-leydig cell tumor10.1
36leukorrhea10.1AR, SHBG, SRY
37hidradenitis10.1AR, SHBG, SRY
38omphalocele10.1MUC1, MUC5AC
39bone marrow cancer10.1IGF2, IGFBP3
40breast scirrhous carcinoma10.0MUC1, MUC5AC
41signet ring cell adenocarcinoma10.0IGFBP3, SHBG, SRY
42adenoma10.0
43mite infestation10.0CYP19A1, SRY
44sphenoid sinusitis10.0LYVE1, MUC5AC
45hydronephrosis, congenital, with cleft palate, characteristic facies, hypotonia, and mental retardation10.0ALPPL2, SRY
46amenorrhea10.0
47seminoma10.0
48nephrogenic adenofibroma9.9CYP19A1, SRY
49riedel's fibrosing thyroiditis9.9CYP19A1, SHBG
50hemangioma of lung9.9MUC1, MUC5AC

Graphical network of the top 20 diseases related to Complete Androgen Insensitivity Syndrome:



Diseases related to complete androgen insensitivity syndrome

Symptoms & Phenotypes for Complete Androgen Insensitivity Syndrome

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Human phenotypes related to Complete Androgen Insensitivity Syndrome:

 64 54 (show all 23)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 cryptorchidism64 54 hallmark (90%) Very frequent (99-80%) HP:0000028
2 male pseudohermaphroditism64 54 hallmark (90%) Very frequent (99-80%) HP:0000037
3 tall stature64 hallmark (90%) HP:0000098
4 decreased fertility64 hallmark (90%) HP:0000144
5 primary amenorrhea64 54 hallmark (90%) Very frequent (99-80%) HP:0000786
6 abnormal hair quantity64 hallmark (90%) HP:0011362
7 hernia of the abdominal wall64 typical (50%) HP:0004299
8 reduced bone mineral density64 typical (50%) HP:0004349
9 gynecomastia64 54 occasional (7.5%) Occasional (29-5%) HP:0000771
10 tremor64 54 occasional (7.5%) Occasional (29-5%) HP:0001337
11 flexion contracture64 occasional (7.5%) HP:0001371
12 testicular neoplasm64 occasional (7.5%) HP:0010788
13 inguinal hernia54 Frequent (79-30%)
14 testicular gonadoblastoma54 Occasional (29-5%)
15 aplasia of the uterus54 Very frequent (99-80%)
16 sensory neuropathy54 Occasional (29-5%)
17 nephrolithiasis54 Very frequent (99-80%)
18 infertility54 Very frequent (99-80%)
19 osteoporosis54 Frequent (79-30%)
20 absent axillary hair54 Very frequent (99-80%)
21 absent pubic hair54 Very frequent (99-80%)
22 muscle cramps54 Occasional (29-5%)
23 aplasia/hypoplasia of the fallopian tube54 Very frequent (99-80%)

MGI Mouse Phenotypes related to Complete Androgen Insensitivity Syndrome according to GeneCards Suite gene sharing:

41
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053708.3AR, CYP19A1, IGF2, IGFBP2, IGFBP3, NR1H2
2MP:00053878.0AR, CYP19A1, IGF2, IGFBP2, LYVE1, MUC5AC

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 Syndrome24 AR

Anatomical Context for Complete Androgen Insensitivity Syndrome

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MalaCards organs/tissues related to Complete Androgen Insensitivity Syndrome:

36
Bone, Uterus, Skin, Testes, Testis, Prostate, Brain

Publications for Complete Androgen Insensitivity Syndrome

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Articles related to Complete Androgen Insensitivity Syndrome:

(show top 50)    (show all 163)
idTitleAuthorsYear
1
Sexual orientation and medical history among Iranian people with Complete Androgen Insensitivity Syndrome and Congenital Adrenal Hyperplasia. (27998513)
2017
2
Mutational analysis of the androgen receptor gene in two Chinese families with complete androgen insensitivity syndrome. (27284311)
2016
3
Complete androgen insensitivity syndrome with concomitant seminoma and Sertoli cell adenoma: an unusual combination. (28039344)
2016
4
Complete androgen insensitivity syndrome caused by a deep intronic pseudoexon-activating mutation in the androgen receptor gene. (27609317)
2016
5
Laparoscopic Gonadectomy and Hernia Repair for Complete Androgen Insensitivity Syndrome (CAIS): A Rare Cause of Primary Amenorrhea. (27298532)
2016
6
Complete Androgen Insensitivity Syndrome in Three Generations of Indian Pedigree. (27651630)
2016
7
Complete androgen insensitivity syndrome associated with male gender identity or female precocious puberty in the same family. (25633053)
2015
8
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
9
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
10
Usefulness and role of magnetic resonance imaging in a case of complete androgen insensitivity syndrome. (27398128)
2015
11
A novel mutation of the androgen receptor gene in familial complete androgen insensitivity syndrome. (26592841)
2015
12
Complete androgen insensitivity syndrome caused by a novel splice donor site mutation and activation of a cryptic splice donor site in the androgen receptor gene. (26435450)
2015
13
Different types of androgen receptor mutations in patients with complete androgen insensitivity syndrome. (25674389)
2015
14
Characteristic features of reproductive hormone profiles in late adolescent and adult females with complete androgen insensitivity syndrome. (25613104)
2015
15
Chromosomal Study is Must for Prepubertal Girl with Inguinal Hernia: Opportunity to Diagnose Complete Androgen Insensitivity Syndrome. (26023570)
2015
16
Timing of Gonadectomy in Patients with Complete Androgen Insensitivity Syndrome- Current Recommendations and Future Directions. (26428189)
2015
17
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
18
Complete androgen insensitivity syndrome in juveniles and adults with female phenotypes. (25170741)
2014
19
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
20
Complete androgen insensitivity syndrome in three sisters. (24520507)
2014
21
Response to: Comment on "Complete Androgen Insensitivity Syndrome: Optimizing Diagnosis and Management". (25574409)
2014
22
Diagnostic laparoscopy in a twelve year old girl with right iliac fossa pain: A life changing diagnosis of complete androgen insensitivity syndrome. (24995665)
2014
23
Brain responses to sexual images in 46,XY women with complete androgen insensitivity syndrome are female-typical. (25284435)
2014
24
Laparoscopic gonedectomy in a case of complete androgen insensitivity syndrome. (25395750)
2014
25
A case of complete androgen insensitivity syndrome: genetic analysis of the family. (25404833)
2014
26
Testicular feminization: complete androgen insensitivity syndrome. Discussions based on a case report. (24715185)
2014
27
Neural Activation During Mental Rotation in Complete Androgen Insensitivity Syndrome: the Influence of Sex Hormones and Sex Chromosomes. (25452569)
2014
28
Complete androgen insensitivity syndrome with a large gonadal serous papillary cystadenofibroma. (25191030)
2014
29
Comment on "complete androgen insensitivity syndrome: optimizing diagnosis and management". (24949207)
2014
30
Genetic analysis of a family with complete androgen insensitivity syndrome. (24339553)
2013
31
Evaluation of retained testes in adolescent girls and women with complete androgen insensitivity syndrome. (23533290)
2013
32
Complete androgen insensitivity syndrome: factors influencing gonadal histology including germ cell pathology. (24186138)
2013
33
A large seminoma occurring 20A years after diagnosis of complete androgen insensitivity syndrome: A case report. (24371685)
2013
34
Complete androgen insensitivity syndrome and discordant MA1llerian remnants: two cases with novel mutation in the androgen receptor. (23729616)
2013
35
Differentiating Swyer Syndrome and Complete Androgen Insensitivity Syndrome: A Diagnostic Dilemma. (24119655)
2013
36
L712V mutation in the androgen receptor gene causes complete androgen insensitivity syndrome due to severe loss of androgen function. (24055831)
2013
37
Complete Androgen Insensitivity Syndrome with a Sertoli-Leydig Cell Tumor. (24333107)
2013
38
Role of imaging in the diagnosis and management of complete androgen insensitivity syndrome in adults. (23762728)
2013
39
A novel arg616Cys mutation in the DNA-binding domain of complete androgen insensitivity syndrome in a Chinese family. (24229697)
2013
40
Complete androgen insensitivity syndrome: a rare case of disorder of sex development. (23533861)
2013
41
Complete androgen insensitivity syndrome associated with bilateral Sertoli cell adenomas and paratesticular leiomyomas: case report and review of the literature. (22819761)
2013
42
Sexual Life and Sexual Wellness in Individuals with Complete Androgen Insensitivity Syndrome (CAIS) and Mayer-Rokitansky-KA1ster-Hauser Syndrome (MRKHS). (24165016)
2013
43
Complete androgen insensitivity syndrome with persistent mA1llerian remnants. A case report. (22682968)
2013
44
Screening for complete androgen insensitivity syndrome in girls with inguinal hernia: parental insight. (23418035)
2013
45
Timing of gonadectomy in adult women with complete androgen insensitivity syndrome (CAIS): patient preferences and clinical evidence. (22211628)
2012
46
A novel nonsense mutation in the N-terminal domain of the androgen receptor gene causes complete androgen insensitivity syndrome. (22943730)
2012
47
A large deletion/insertion-induced frameshift mutation of the androgen receptor gene in a family with a familial complete androgen insensitivity syndrome. (22487869)
2012
48
A novel nonsense mutation in the androgen receptor gene causes the complete androgen insensitivity syndrome. (21757511)
2012
49
Novel androgen receptor gene mutation in patient with complete androgen insensitivity syndrome. (22608796)
2012
50
XY Female with Complete Androgen Insensitivity Syndrome with Bilateral Inguinal Hernia. (24293881)
2012

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:00057969.3CGA, MUC1, MUC5AC
2extracellular regionGO:00055768.8CGA, IGF2, IGFBP2, IGFBP3, PTGDS, SHBG
3extracellular spaceGO:00056158.7IGF2, IGFBP2, IGFBP3, MUC1, MUC5AC, PTGDS
4extracellular exosomeGO:00700628.0IGF2, IGFBP2, IGFBP3, LYVE1, MUC1, MUC5AC

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

(show all 7)
idNameGO IDScoreTop Affiliating Genes
1positive regulation of insulin-like growth factor receptor signaling pathwayGO:004356810.5AR, IGFBP3
2positive regulation of activated T cell proliferationGO:004210410.1IGF2, IGFBP2
3prostate gland growthGO:006073610.0AR, CYP19A1
4positive regulation of MAPK cascadeGO:00434109.9AR, IGF2, IGFBP3
5cellular protein metabolic processGO:00442679.8IGF2, IGFBP2, IGFBP3
6female pregnancyGO:00075659.8IGF2, IGFBP2, MUC1
7regulation of insulin-like growth factor receptor signaling pathwayGO:00435679.6IGFBP2, IGFBP3

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

idNameGO IDScoreTop Affiliating Genes
1androgen bindingGO:000549710.2AR, SHBG
2insulin-like growth factor bindingGO:000552010.0IGFBP2, IGFBP3
3insulin-like growth factor I bindingGO:003199410.0IGFBP2, IGFBP3
4insulin-like growth factor II bindingGO:003199510.0IGFBP2, IGFBP3
5steroid bindingGO:00054969.7AR, SHBG

Sources for Complete Androgen Insensitivity Syndrome

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet