MCID: CMP034
MIFTS: 40

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 obesity, 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 testes, breast 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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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
Testes, Breast, Uterus, Cervix, Bone, Thyroid, Prostate

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 155)
idTitleAuthorsYear
1
Mesenchymal stromal cells in the development and therapy of bronchopulmonary dysplasia. (27142639)
2016
2
Prevalence of BRCA1 and BRCA2 germline mutations in patients with triple-negative breast cancer. (25682074)
2015
3
Repurposing FDA-approved drugs as therapeutics to treat Rift Valley fever virus infection. (26217313)
2015
4
Injection of steroids intralesional in central giant cell granuloma cases (giant cell tumor): Is it free of systemic complications or not? A case report. (25699662)
2015
5
Expression of stem cell marker CD44 in prostate cancer biopsies predicts cancer grade in radical prostatectomy specimens. (25693083)
2014
6
Fracture healing of an osteodysplastic femur in a microcephalic osteodysplastic primordial dwarfism II (MOPD II) patient: a case report. (22773355)
2013
7
Parapharyngeal liposarcoma: a case report. (23497351)
2013
8
Heparin-induced thrombocytopenia: general considerations. (23732823)
2013
9
Surgical results after one-muscle recession for correction of horizontal sensory strabismus in children. (23622449)
2013
10
How functional connectivity between emotion regulation structures can be disrupted: preliminary evidence from adolescents with moderate to severe traumatic brain injury. (23981357)
2013
11
PTH1 receptor is involved in mediating cellular response to long-chain polyunsaturated fatty acids. (23300710)
2012
12
Golgi phosphoprotein 3 determines cell binding properties under dynamic flow by controlling Golgi localization of core 2 N-acetylglucosaminyltransferase 1. (23027862)
2012
13
Case for diagnosis. Papular elastorrhexis. (22892790)
2012
14
Enhanced antitumor activity of vitamin C via p53 in cancer cells. (22892142)
2012
15
Change in expression of miR-let7c, miR-100, and miR-218 from high grade localized prostate cancer to metastasis. (19372056)
2011
16
The N-terminal domain of NPC1L1 protein binds cholesterol and plays essential roles in cholesterol uptake. (21602275)
2011
17
Melatonin inhibits insulin secretion in rat insulinoma I^-cells (INS-1) heterologously expressing the human melatonin receptor isoform MT2. (21585522)
2011
18
Cystic pancreatic lymphangioma. The first report of a preoperative pathological diagnosis by endoscopic ultrasound-guided cyst aspiration. (21904074)
2011
19
Functional characterization of a partial loss-of-function mutation of the epithelial sodium channel (ENaC) associated with atypical cystic fibrosis. (20054153)
2010
20
Congenital cystic eye with multiple dermal appendages and intracranial congenital anomalies. (19847771)
2010
21
Cleavage of protease-activated receptors on an immortalized oral epithelial cell line by Porphyromonas gingivalis gingipains. (19608609)
2009
22
Circulating levels of interferon-gamma in course of hepatitis C virus-related arthritis. (19450146)
2009
23
Narrow-band blue-light treatment of seasonal affective disorder in adults and the influence of additional nonseasonal symptoms. (19016463)
2009
24
The retromer complex and clathrin define an early endosomal retrograde exit site. (17550971)
2007
25
Interferon-inducible Mx gene expression in cotton rats: cloning, characterization, and expression during influenza viral infection. (17238834)
2006
26
Constitutive activation of the shh-ptc1 pathway by a patched1 mutation identified in BCC. (15592520)
2005
27
Management of nonpalpable ultrasound-indeterminate breast lesions. (14605628)
2003
28
IDDM2/insulin VNTR modifies risk conferred by IDDM1/HLA for development of Type 1 diabetes and associated autoimmunity. (12750767)
2003
29
Multiple cis-elements mediate the transcriptional activation of human fra-1 by 12-O-tetradecanoylphorbol-13-acetate in bronchial epithelial cells. (13679379)
2003
30
Probasin promoter (ARR(2)PB)-driven, prostate-specific expression of the human sodium iodide symporter (h-NIS) for targeted radioiodine therapy of prostate cancer. (14633711)
2003
31
Combined surgical and endoscopic clearance of small-bowel polyps in Peutz-Jeghers syndrome. (14519733)
2003
32
Utilization of thyroid transcription factor-1 immunostaining in the diagnosis of lung tumors. (12407752)
2003
33
Tuberculous parotitis: a forgotten entity. (12075235)
2002
34
Determination of thiopurine methyltransferase genotype or phenotype optimizes initial dosing of azathioprine for the treatment of Crohn's disease. (12192200)
2002
35
The management of severe infectious mononucleosis tonsillitis and upper airway obstruction. (11779326)
2001
36
Non-toxic ubiquitous over-expression of utrophin in the mdx mouse. (11595513)
2001
37
Does leptin exhibit cytokine-like properties in tissues of pregnancy? (10872609)
2000
38
Magnetic resonance imaging findings in bilateral Bell's palsy. (11147402)
2000
39
Vaccination against gonadotropin-releasing hormone (GnRH) using toxin receptor-binding domain-conjugated GnRH repeats. (10919636)
2000
40
Survey of nutritional status in newly hospitalized patients with stage III or stage IV pressure ulcers. (11075011)
2000
41
On the mode of inhibition of eukaryotic protein synthesis by ADP-ribosylation of elongation factor 2. (10637774)
1999
42
Enterobacterial antibodies in Chinese patients with rheumatoid arthritis and ankylosing spondylitis. (9536392)
1998
43
13-Cis-retinoic acid plus interferon-alpha 2a in recurrent respiratory papillomatosis. (8182767)
1994
44
Effect of monensin on the sulfation of heparan sulfate proteoglycan from endothelial cells. (1429869)
1992
45
Effects of endothelin on intracellular Ca2+ and contractility in single ventricular myocytes from the ferret and human. (1516644)
1992
46
The effect of lysophosphatidylcholine on the activity of various mitochondrial enzymes. (1309653)
1992
47
Management of biliary ascariasis in children. (2258221)
1990
48
An early phase II study of CPT-11: a new derivative of camptothecin, for the treatment of leukemia and lymphoma. (2230878)
1990
49
Molecular characterization of the RNA S segment of nephropathia epidemica virus strain HAollnAos B1. (2104684)
1990
50
Fluorescent antibody staining as a means of detecting Rocky Mountain spotted fever infection in individual ticks. (14445822)
1960

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