CAIS
MCID: CMP034
MIFTS: 46

Complete Androgen Insensitivity Syndrome (CAIS)

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

Aliases & Classifications for Complete Androgen Insensitivity Syndrome

MalaCards integrated aliases for Complete Androgen Insensitivity Syndrome:

Name: Complete Androgen Insensitivity Syndrome 52 58 29
Cais 52 58
Androgen Insensitivity Syndrome, Complete 52
Androgen Insensitivity Syndrome Complete 54
Complete Androgen Resistance Syndrome 58
Testicular Feminization 71

Characteristics:

Orphanet epidemiological data:

58
complete androgen insensitivity syndrome
Inheritance: X-linked recessive; Age of onset: All ages; Age of death: normal life expectancy;

Classifications:

Orphanet: 58  
Rare infertility disorders
Rare gynaecological and obstetric diseases
Rare endocrine diseases
Developmental anomalies during embryogenesis


External Ids:

ICD10 via Orphanet 33 E34.5
Orphanet 58 ORPHA99429
UMLS 71 C0936016

Summaries for Complete Androgen Insensitivity Syndrome

NIH Rare Diseases : 52 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.

MalaCards based summary : Complete Androgen Insensitivity Syndrome, also known as cais, is related to seminoma and androgen insensitivity syndrome. An important gene associated with Complete Androgen Insensitivity Syndrome is AR (Androgen Receptor), and among its related pathways/superpathways are Metabolism of proteins and Glucose / Energy Metabolism. The drugs Anesthetics and Fibrin Tissue Adhesive have been mentioned in the context of this disorder. Affiliated tissues include uterus, testes and breast, and related phenotypes are cryptorchidism and primary amenorrhea

Wikipedia : 74 Complete androgen insensitivity syndrome (CAIS) is a condition that results in the complete inability of... more...

Related Diseases for Complete Androgen Insensitivity Syndrome

Diseases related to Complete Androgen Insensitivity Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 174)
# Related Disease Score Top Affiliating Genes
1 seminoma 30.6 IGF2 CGA ALPG
2 androgen insensitivity syndrome 30.6 SRY SHBG PTGDS NR1H2 MUC5AC MUC1
3 testicular cancer 30.2 SHBG CGA AR
4 gender identity disorder 30.1 CYP19A1 AR
5 sertoli cell tumor 29.9 MUC1 CYP19A1 AR
6 hyperinsulinism 29.9 SHBG IGFBP3 IGF2
7 androgen insensitivity, partial 29.8 SHBG LYVE1 CYP19A1 AR
8 disorders of sexual development 29.7 SHBG IGFBP3 CYP19A1 AR
9 infertility 29.7 SHBG CYP19A1 CGA AR
10 pseudohermaphroditism 29.7 SRY CYP19A1 AR
11 germ cell cancer 29.6 IGFBP2 IGF2 CGA AR ALPG
12 alopecia, androgenetic, 1 29.5 SHBG CYP19A1 AR
13 46,xy sex reversal 29.5 SRY CYP19A1 AR
14 male infertility 29.2 SRY SHBG CYP19A1 AR
15 turner syndrome 28.9 SRY SHBG IGFBP3 IGF2 AR
16 androgenic alopecia 28.9 SHBG PTGDS CYP19A1 AR
17 gynecomastia 28.5 SRY SHBG CYP19A1 CGA AR
18 polycystic ovary syndrome 28.4 SHBG IGFBP3 IGF2 CYP19A1 CGA AR
19 vitreoretinochoroidopathy 11.4
20 amenorrhea 10.8
21 inguinal hernia 10.6
22 adenoma 10.4
23 gonadal dysgenesis 10.4
24 bladder cancer 10.3
25 multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly 10.3
26 leydig cell tumor 10.3
27 sertoli-leydig cell tumor 10.3
28 reticulum cell sarcoma 10.3 MUC1 LYVE1
29 apocrine adenocarcinoma 10.3 MUC1 AR
30 glioblastoma multiforme 10.2
31 testicular germ cell tumor 10.2
32 testicular germ cell cancer 10.2
33 in situ carcinoma 10.2
34 germ cells tumors 10.2
35 fetal macrosomia 10.2 IGFBP3 IGF2
36 intrahepatic biliary papillomatosis 10.2 MUC5AC MUC1
37 biliary papillomatosis 10.2 MUC5AC MUC1
38 colloid carcinoma of the pancreas 10.2 MUC5AC MUC1
39 acid-labile subunit deficiency 10.2 IGFBP3 IGF2
40 urinary bladder villous adenoma 10.2 MUC5AC MUC1
41 bile duct mucinous adenocarcinoma 10.2 MUC5AC MUC1
42 mucinous intrahepatic cholangiocarcinoma 10.2 MUC5AC MUC1
43 bile duct cystadenocarcinoma 10.2 MUC5AC MUC1
44 pseudovaginal perineoscrotal hypospadias 10.2 IGFBP3 CGA AR
45 bile duct mucoepidermoid carcinoma 10.2 MUC5AC MUC1
46 chronic ethmoiditis 10.2 MUC5AC MUC1
47 hyperpituitarism 10.2 IGFBP3 IGF2
48 biliary tract benign neoplasm 10.1 MUC5AC MUC1
49 pancreatic mucinous cystadenoma 10.1 MUC5AC MUC1
50 rhabdoid tumor predisposition syndrome 1 10.1 MUC1 IGF2

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

Human phenotypes related to Complete Androgen Insensitivity Syndrome:

58 31 (show all 16)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 cryptorchidism 58 31 hallmark (90%) Very frequent (99-80%) HP:0000028
2 primary amenorrhea 58 31 hallmark (90%) Very frequent (99-80%) HP:0000786
3 nephrolithiasis 58 31 hallmark (90%) Very frequent (99-80%) HP:0000787
4 male pseudohermaphroditism 58 31 hallmark (90%) Very frequent (99-80%) HP:0000037
5 infertility 58 31 hallmark (90%) Very frequent (99-80%) HP:0000789
6 aplasia of the uterus 58 31 hallmark (90%) Very frequent (99-80%) HP:0000151
7 absent axillary hair 58 31 hallmark (90%) Very frequent (99-80%) HP:0002221
8 absent pubic hair 58 31 hallmark (90%) Very frequent (99-80%) HP:0002555
9 aplasia/hypoplasia of the fallopian tube 58 31 hallmark (90%) Very frequent (99-80%) HP:0008655
10 inguinal hernia 58 31 frequent (33%) Frequent (79-30%) HP:0000023
11 osteoporosis 58 31 frequent (33%) Frequent (79-30%) HP:0000939
12 sensory neuropathy 58 31 occasional (7.5%) Occasional (29-5%) HP:0000763
13 tremor 58 31 occasional (7.5%) Occasional (29-5%) HP:0001337
14 gynecomastia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000771
15 muscle spasm 58 31 occasional (7.5%) Occasional (29-5%) HP:0003394
16 testicular gonadoblastoma 58 31 occasional (7.5%) Occasional (29-5%) HP:0000030

MGI Mouse Phenotypes related to Complete Androgen Insensitivity Syndrome:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 liver/biliary system MP:0005370 9.1 AR CYP19A1 IGF2 IGFBP2 IGFBP3 NR1H2

Drugs & Therapeutics for Complete Androgen Insensitivity Syndrome

Drugs for Complete Androgen Insensitivity Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 6)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Anesthetics Phase 4
2 Fibrin Tissue Adhesive Phase 3
3
Ethanol Approved Phase 2 64-17-5 702
4 Anticonvulsants Phase 2
5 Anti-Infective Agents, Local Phase 1
6 Anti-Infective Agents Phase 1

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 One-abutment One-time for Immediate Restoration Procedure in the Esthetic Zone: A Randomized Controlled Trial Comparing Conventional Versus Full Digital Workflow Completed NCT04139512 Phase 4
2 A Randomised Clinical Trial Comparing a Novel Single-stage Autologous Cartilage Implantation System to Conventional Microfracture for Repair of Articular Cartilage Defects in the Knee Unknown status NCT01498029 Phase 3
3 Rapid Determination Of The Clinical Utility Of Perampanel For The Treatment Of Alcohol Dependence Active, not recruiting NCT02120365 Phase 2 Perampanel;Placebo
4 Nicotinic Receptor Genetic Variation and Alcohol Reward Recruiting NCT03294460 Phase 1 Alcohol (Oral);Alcohol (IV);Alcohol (Ethanol)
5 Project 4: Acute Effects of Alcohol on Learning and Habitization in Healthy Young Adults Completed NCT01858818
6 VoiceS: Voice Quality After Transoral CO2-Laser Surgery Versus Single Vocal Cord Irradiation for Unilateral Stage 0 & I Glottic Larynx Cancer - A Randomized Phase III Trial Recruiting NCT04057209
7 Retrospective Observational Study Determining the Clinical Effectiveness of Whole Genome and Transcriptome Analysis to Guide Advanced Cancer Care Active, not recruiting NCT04141397
8 A Multicenter, Randomized, Pivotal Study to Evaluate the Safety and Efficacy of the Cartilage Autograft Implantation System (CAIS) for the Surgical Treatment of Articular Cartilage Lesions of the Knee Terminated NCT00881023

Search NIH Clinical Center for Complete Androgen Insensitivity Syndrome

Genetic Tests for Complete Androgen Insensitivity Syndrome

Genetic tests related to Complete Androgen Insensitivity Syndrome:

# Genetic test Affiliating Genes
1 Complete Androgen Insensitivity Syndrome 29

Anatomical Context for Complete Androgen Insensitivity Syndrome

MalaCards organs/tissues related to Complete Androgen Insensitivity Syndrome:

40
Uterus, Testes, Breast, Cervix, Bone, Skin, Brain

Publications for Complete Androgen Insensitivity Syndrome

Articles related to Complete Androgen Insensitivity Syndrome:

(show top 50) (show all 859)
# Title Authors PMID Year
1
Two de novo mutations in the AR gene cause the complete androgen insensitivity syndrome in a pair of monozygotic twins. 54 61 6
11889162 2002
2
A novel mutation in the CAG triplet region of exon 1 of androgen receptor gene causes complete androgen insensitivity syndrome in a large kindred. 54 61 6
10323385 1999
3
Mosaicism due to a somatic mutation of the androgen receptor gene determines phenotype in androgen insensitivity syndrome. 6 54 61
9360511 1997
4
Extreme androgen resistance in a kindred with a novel insertion/deletion mutation in exon 5 of the androgen receptor gene. 61 6
12908100 2003
5
Complete androgen insensitivity syndrome caused by a novel mutation in the ligand-binding domain of the androgen receptor: functional characterization. 6 61
12213902 2002
6
Genotype versus phenotype in families with androgen insensitivity syndrome. 61 6
11549642 2001
7
Androgen Insensitivity Syndrome 6 61
20301602 1999
8
A novel substitution (Leu707Arg) in exon 4 of the androgen receptor gene causes complete androgen resistance. 6 54
8626869 1996
9
Leu-676-Pro mutation of the androgen receptor causes complete androgen insensitivity syndrome in a large Hutterite kindred. 61 6
7537149 1995
10
Complete androgen insensitivity syndrome associated with a de novo mutation of the androgen receptor gene detected by single strand conformation polymorphism. 61 6
8096390 1993
11
Androgen receptor gene mutations identified by SSCP in fourteen subjects with androgen insensitivity syndrome. 6 61
1307250 1992
12
A single amino acid substitution (Met786----Val) in the steroid-binding domain of human androgen receptor leads to complete androgen insensitivity syndrome. 61 6
1569163 1992
13
Sequence of the intron/exon junctions of the coding region of the human androgen receptor gene and identification of a point mutation in a family with complete androgen insensitivity. 6 61
2594783 1989
14
Deletion of the steroid-binding domain of the human androgen receptor gene in one family with complete androgen insensitivity syndrome: evidence for further genetic heterogeneity in this syndrome. 61 6
3186717 1988
15
Pathophysiology of androgen insensitivity syndromes: molecular and structural approaches of natural and engineered androgen receptor mutations at amino acid 743. 6
12466388 2002
16
Male fertility is compatible with an Arg(840)Cys substitution in the AR in a large Chinese family affected with divergent phenotypes of AR insensitivity syndrome. 6
11788673 2002
17
A G577R mutation in the human AR P box results in selective decreases in DNA binding and in partial androgen insensitivity syndrome. 6
11579211 2001
18
A unique exonic splicing mutation in the human androgen receptor gene indicates a physiologic relevance of regular androgen receptor transcript variants. 6
11397856 2001
19
Significance of the CAG repeat length in the androgen receptor gene (AR) for the transactivation function of an M780I mutant AR. 6
10323251 1999
20
Mutations of the androgen receptor gene in patients with complete androgen insensitivity. 6
8990010 1997
21
Androgen insensitivity syndrome due to new mutations in the DNA-binding domain of the androgen receptor. 6
8809734 1996
22
A single amino acid substitution (gly743 --> val) in the steroid-binding domain of the human androgen receptor leads to Reifenstein syndrome. 6
8325932 1993
23
Complete testicular feminization caused by an amino-terminal truncation of the androgen receptor with downstream initiation. 6
8450040 1993
24
Related individuals with different androgen receptor gene deletions. 6
8450042 1993
25
Replacement of arginine 773 by cysteine or histidine in the human androgen receptor causes complete androgen insensitivity with different receptor phenotypes. 6
1609793 1992
26
Amber mutation creates a diagnostic MaeI site in the androgen receptor gene of a family with complete androgen insensitivity. 6
1720929 1991
27
Definition of the human androgen receptor gene structure permits the identification of mutations that cause androgen resistance: premature termination of the receptor protein at amino acid residue 588 causes complete androgen resistance. 6
2293020 1990
28
An exonic point mutation of the androgen receptor gene in a family with complete androgen insensitivity. 6
2339702 1990
29
A single nucleotide substitution introduces a premature termination codon into the androgen receptor gene of a patient with receptor-negative androgen resistance. 6
2332504 1990
30
The human androgen receptor: complementary deoxyribonucleic acid cloning, sequence analysis and gene expression in prostate. 6
3216866 1988
31
Multiplicity of genetic polymorphisms of blood in the Schmiedeleut Hutterites. 6
4061484 1985
32
Novel (60%) and recurrent (40%) androgen receptor gene mutations in a series of 59 patients with a 46,XY disorder of sex development. 54 61
20150575 2010
33
A double nucleotide insertion-induced frame-shift mutation of the androgen receptor gene in a familial complete androgen insensitivity syndrome. 54 61
19815331 2010
34
[Mutation analysis of the androgen receptor gene in a complete androgen insensitivity syndrome family]. 54 61
19953479 2009
35
A case of complete androgen insensitivity syndrome presenting with incarcerated inguinal hernia: an immunohistochemical study. 54 61
19539906 2009
36
Identification of a critical novel mutation in the exon 1 of androgen receptor gene in 2 brothers with complete androgen insensitivity syndrome. 61 54
19023143 2009
37
Androgen receptor roles in spermatogenesis and fertility: lessons from testicular cell-specific androgen receptor knockout mice. 54 61
19176467 2009
38
In-vitro characterization of androgen receptor mutations associated with complete androgen insensitivity syndrome reveals distinct functional deficits. 61 54
18577874 2008
39
Intrinsic androgen-dependent gene expression patterns revealed by comparison of genital fibroblasts from normal males and individuals with complete and partial androgen insensitivity syndrome. 54 61
17945006 2007
40
Primary amenorrhea in a young Polish woman with complete androgen insensitivity syndrome and Sertoli-Leydig cell tumor: identification of a new androgen receptor gene mutation and evidence of aromatase hyperactivity and apoptosis dysregulation within the tumor. 54 61
17852420 2007
41
L859F mutation in androgen receptor gene results in complete loss of androgen binding to the receptor. 54 61
17522416 2007
42
A novel androgen receptor mutation resulting in complete androgen insensitivity syndrome and bilateral Leydig cell hyperplasia. 54 61
16582414 2006
43
Testicular development in the complete androgen insensitivity syndrome. 61 54
16400621 2006
44
Complete androgen insensitivity syndrome caused by the R855H mutation in the androgen receptor gene. 61 54
15813610 2005
45
Transactivation properties of wild-type and mutant androgen receptors in transiently transfected primary human fibroblasts. 61 54
15812177 2005
46
An examination of how different mutations at arginine 855 of the androgen receptor result in different androgen insensitivity phenotypes. 54 61
15118070 2004
47
Novel androgen receptor gene mutations in Australian patients with complete androgen insensitivity syndrome. 54 61
14974091 2004
48
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. 61 54
14635106 2003
49
Novel point mutations in complete androgen insensitivity syndrome with incomplete müllerian regression: two Taiwanese patients. 54 61
13680382 2003
50
Androgen receptor gene and male infertility. 61 54
12638777 2003

Variations for Complete Androgen Insensitivity Syndrome

Expression for Complete Androgen Insensitivity Syndrome

Search GEO for disease gene expression data for Complete Androgen Insensitivity Syndrome.

Pathways for Complete Androgen Insensitivity Syndrome

GO Terms for Complete Androgen Insensitivity Syndrome

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

# Name GO ID Score Top Affiliating Genes
1 extracellular space GO:0005615 9.7 PTGDS MUC5AC MUC1 IGFBP3 IGFBP2 IGF2
2 extracellular region GO:0005576 9.28 SHBG PTGDS MUC5AC MUC1 IGFBP3 IGFBP2
3 Golgi lumen GO:0005796 9.13 MUC5AC MUC1 CGA

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

# Name GO ID Score Top Affiliating Genes
1 positive regulation of MAPK cascade GO:0043410 9.43 IGFBP3 IGF2 AR
2 positive regulation of activated T cell proliferation GO:0042104 9.32 IGFBP2 IGF2
3 positive regulation of insulin-like growth factor receptor signaling pathway GO:0043568 9.16 IGFBP3 AR
4 regulation of insulin-like growth factor receptor signaling pathway GO:0043567 8.96 IGFBP3 IGFBP2
5 prostate gland growth GO:0060736 8.62 CYP19A1 AR

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

# Name GO ID Score Top Affiliating Genes
1 insulin-like growth factor binding GO:0005520 9.26 IGFBP3 IGFBP2
2 insulin-like growth factor I binding GO:0031994 9.16 IGFBP3 IGFBP2
3 insulin-like growth factor II binding GO:0031995 8.96 IGFBP3 IGFBP2
4 androgen binding GO:0005497 8.62 SHBG AR

Sources for Complete Androgen Insensitivity Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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