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CAIS
MCID: CMP034
MIFTS: 55

Complete Androgen Insensitivity Syndrome (CAIS)

Categories: Endocrine diseases, Fetal diseases, Rare diseases, Reproductive diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Drugs
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Aliases & Classifications for Complete Androgen Insensitivity Syndrome

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MalaCards integrated aliases for Complete Androgen Insensitivity Syndrome:

Name: Complete Androgen Insensitivity Syndrome 12 20 58 29
Cais 20 58
Androgen Insensitivity Syndrome, Complete 20
Androgen Insensitivity Syndrome Complete 54
Complete Androgen Resistance Syndrome 58
Androgen Insensitivity, Complete 6
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:

MalaCards categories:
Global: Rare diseases Fetal diseases
Anatomical: Reproductive diseases Endocrine diseases
See all MalaCards categories (disease lists)
ICD10: 33
Orphanet: 58  
Rare infertility disorders
Rare gynaecological and obstetric diseases
Rare endocrine diseases
Developmental anomalies during embryogenesis


External Ids:

Disease Ontology 12 DOID:0080775
ICD9CM 34 259.51
NCIt 50 C120191
ICD10 32 E34.51
ICD10 via Orphanet 33 E34.5
Orphanet 58 ORPHA99429
UMLS 71 C0936016
Sources

Summaries for Complete Androgen Insensitivity Syndrome

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GARD : 20 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 penis agenesis. 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 Fibrin Tissue Adhesive and Hormones have been mentioned in the context of this disorder. Affiliated tissues include uterus, testes and cervix, and related phenotypes are cryptorchidism and primary amenorrhea

Disease Ontology : 12 An androgen insensitivity syndrome that is characterized by complete androgen insensitivity as the body cannot use androgens at all, having the external sex characteristics of females but no uterus.

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

Sources

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 142)
# Related Disease Score Top Affiliating Genes
1 seminoma 30.8 IGF2 CGA ALPG
2 penis agenesis 30.4 IGFBP3 CGA AR
3 disorder of sexual development 30.3 SHBG CYP19A1 AR
4 gender identity disorder 30.3 CYP19A1 AR
5 sertoli cell tumor 30.2 MUC1 CYP19A1 AR
6 pseudohermaphroditism 30.1 SRY CYP19A1 AR
7 46,xy sex reversal 30.0 SRY CYP19A1 AR
8 anorexia nervosa 29.9 SHBG IGFBP3 IGFBP2
9 germ cell cancer 29.9 IGFBP2 IGF2 CGA AR ALPG
10 alopecia, androgenetic, 1 29.8 SHBG CYP19A1 AR
11 aromatase excess syndrome 29.8 SHBG CYP19A1 AR
12 androgen insensitivity, partial 29.6 SHBG LYVE1 CYP19A1 AR
13 turner syndrome 29.5 SRY SHBG IGFBP3 IGF2 AR
14 androgen insensitivity syndrome 29.4 SRY SHBG PTGDS NR1H2 MUC5AC MUC1
15 androgenic alopecia 29.4 SHBG PTGDS CYP19A1 AR
16 male infertility 29.3 SRY SHBG IGF2 CYP19A1 CGA AR
17 gynecomastia 29.1 SRY SHBG CYP19A1 CGA AR
18 polycystic ovary syndrome 29.0 SHBG IGFBP3 IGF2 CYP19A1 CGA AR
19 vitreoretinochoroidopathy 11.1
20 amenorrhea 10.9
21 inguinal hernia 10.7
22 gonadal dysgenesis 10.5
23 adenoma 10.5
24 infertility 10.4
25 leydig cell tumor 10.4
26 sertoli-leydig cell tumor 10.4
27 testicular germ cell tumor 10.3
28 in situ carcinoma 10.3
29 germ cells tumors 10.3
30 reticulum cell sarcoma 10.2 MUC1 LYVE1
31 potter's syndrome 10.2 IGFBP3 IGF2
32 apocrine adenocarcinoma 10.2 MUC1 AR
33 lipoid congenital adrenal hyperplasia 10.2
34 46,xy sex reversal 1 10.2
35 hypospadias 10.2
36 leiomyoma 10.2
37 testicular cancer 10.2
38 colloid carcinoma of the pancreas 10.2 MUC5AC MUC1
39 intrahepatic biliary papillomatosis 10.2 MUC5AC MUC1
40 biliary papillomatosis 10.2 MUC5AC MUC1
41 chronic ethmoiditis 10.2 MUC5AC MUC1
42 urinary bladder villous adenoma 10.2 MUC5AC MUC1
43 bile duct mucinous adenocarcinoma 10.2 MUC5AC MUC1
44 mucinous intrahepatic cholangiocarcinoma 10.2 MUC5AC MUC1
45 fetal macrosomia 10.2 IGFBP3 IGF2
46 bile duct cystadenocarcinoma 10.2 MUC5AC MUC1
47 bile duct mucoepidermoid carcinoma 10.2 MUC5AC MUC1
48 glandular cystitis 10.2 MUC5AC MUC1
49 paget disease, extramammary 10.2 MUC1 AR
50 pancreatic mucinous cystadenoma 10.2 MUC5AC MUC1

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



Diseases related to Complete Androgen Insensitivity Syndrome
Sources

Symptoms & Phenotypes for Complete Androgen Insensitivity Syndrome

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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 tremor 58 31 occasional (7.5%) Occasional (29-5%) HP:0001337
13 sensory neuropathy 58 31 occasional (7.5%) Occasional (29-5%) HP:0000763
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:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 liver/biliary system MP:0005370 9.1 AR CYP19A1 IGF2 IGFBP2 IGFBP3 NR1H2
Sources

Drugs & Therapeutics for Complete Androgen Insensitivity Syndrome

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

(show all 37)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Fibrin Tissue Adhesive Phase 3
2 Hormones Phase 3
3 Calcium, Dietary Phase 3
4 Carboxyamido-triazole Phase 3
5 calcium channel blockers Phase 3
6
Calcium Nutraceutical Phase 3 7440-70-2 271
7
Paclitaxel Approved, Vet_approved Phase 1 33069-62-4 36314
8
Clotrimazole Approved, Vet_approved Phase 1 23593-75-1 2812
9
Ketoconazole Approved, Investigational Phase 1 65277-42-1 47576
10
Miconazole Approved, Investigational, Vet_approved Phase 1 22916-47-8 4189
11 Antimitotic Agents Phase 1
12 Albumin-Bound Paclitaxel Phase 1
13 Tubulin Modulators Phase 1
14 Antifungal Agents Phase 1
15 Cytochrome P-450 CYP3A Inhibitors Phase 1
16 Cytochrome P-450 Enzyme Inhibitors Phase 1
17 Hormone Antagonists Phase 1
18
tannic acid Approved 1401-55-4
19
Benzocaine Approved, Investigational 1994-09-7, 94-09-7 2337
20
Hydrocortisone acetate Approved, Vet_approved 50-03-3
21
Hydrocortisone Approved, Vet_approved 50-23-7 5754
22 Hops Approved
23
Temazepam Approved, Investigational 846-50-4 5391
24
Mycophenolic acid Approved 24280-93-1 446541
25
Tacrolimus Approved, Investigational 104987-11-3 445643 439492 6473866
26
Everolimus Approved 159351-69-6 6442177 70789204
27 Anti-Inflammatory Agents
28 Hydrocortisone 17-butyrate 21-propionate
29 Hydrocortisone hemisuccinate
30 Hydrocortisone-17-butyrate
31 Anti-Infective Agents
32 Immunosuppressive Agents
33 Antibiotics, Antitubercular
34 Antitubercular Agents
35 Immunologic Factors
36 Anti-Bacterial Agents
37 Calcineurin Inhibitors

Interventional clinical trials:

(show all 19)
# Name Status NCT ID Phase Drugs
1 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
2 Phase III Randomized, Double-Blind Study of CAI and Placebo in Patients With Advanced Non-Small Cell Lung Cancer (NSCLC) Completed NCT00003869 Phase 3 carboxyamidotriazole
3 Phase II Clinical and Pharmacologic Study of Radiation Therapy and CAI (Carboxy-Amido Triazole) in Adults With Newly Diagnosed Glioblastoma Multiforme Completed NCT00004146 Phase 2 carboxyamidotriazole
4 Phase II Study of Carboxyamidotriazole (CAI, NSC #609974) in Patients With Advanced Renal Cell Carcinoma Refractory to Immunotherapy Completed NCT00005045 Phase 2 carboxyamidotriazole
5 A Phase II Trial of Orally Administered CAI for Patients With Persistent or Refractory Epithelial Ovarian Cancer, Fallopian Tube Cancer, or Primary Peritoneal Cancer Completed NCT00019461 Phase 2 carboxyamidotriazole;chemotherapy
6 A Phase II Randomized Discontinuation Trial Of Carboxyaminoimidazole (CAI, NSC 609974) In Metastatic Renal Carcinoma Completed NCT00006486 Phase 2 carboxyamidotriazole
7 A PHASE I STUDY OF THE COMBINATION OF CAI AND PACLITAXEL IN ADULT PATIENTS WITH REFRACTORY CANCERS OR LYMPHOMA Completed NCT00019019 Phase 1 carboxyamidotriazole;paclitaxel
8 A Phase I Investigation of Carboxyamido-triazole (CAI) Modulated by Ketoconozole In Patients With Advanced Malignancies Completed NCT00003249 Phase 1 carboxyamidotriazole;chemotherapy;ketoconazole
9 Influence of Taping on Postural Control in Subjects With Chronic Ankle Instability (CAI). Unknown status NCT01733433
10 The Effect of Balance Training on Neuromuscular Control in Subjects With CAI Unknown status NCT03439930
11 Computer-assisted Instruction Before Colonoscopy is as Effective as Nurse Counselling, a Controlled Trial (PAVO-E-EDUC) Completed NCT02656602
12 The Influence of Psychobiological Adversity to Children and Adolescents With Type 1 Diabetes Completed NCT02575001
13 Balance Training vs. Balance Training w/ STARS Completed NCT01790581
14 Cross Education Effect of Balance Program in Patients With Ankle Instability Completed NCT04072965
15 Brainstem Dysfunction Involvement in the Pathogenesis of Pierre Robin Sequence Recruiting NCT03423017
16 Balance Training With Transcranial Direct Current Stimulation (tDCS) for Chronic Ankle Instability (CAI) Not yet recruiting NCT04390048
17 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
18 A Clinical Trial for the Assessment of the Safety and Performance of the Vimecon Laser Cardiac Ablation Instrument (CAI) for the Interventional Treatment of Paroxysmal Atrial Fibrillation (AF) Terminated NCT02770989
19 Mechanisms and Treatment of Chronic Allograft Injury (CAI) Due to Calcineurin Inhibitor (CNI) Toxicity Terminated NCT01473732 Everolimus;Tacrolimus;Mycophenolic acid

Search NIH Clinical Center for Complete Androgen Insensitivity Syndrome

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Genetic Tests for Complete Androgen Insensitivity Syndrome

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Genetic tests related to Complete Androgen Insensitivity Syndrome:

# Genetic test Affiliating Genes
1 Complete Androgen Insensitivity Syndrome 29
Sources

Anatomical Context for Complete Androgen Insensitivity Syndrome

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MalaCards organs/tissues related to Complete Androgen Insensitivity Syndrome:

40
Uterus, Testes, Cervix, Skin, Brain, Breast, Eye
Sources

Publications for Complete Androgen Insensitivity Syndrome

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Articles related to Complete Androgen Insensitivity Syndrome:

(show top 50) (show all 908)
# 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. 6 61 54
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. 61 54 6
10323385 1999
3
Mosaicism due to a somatic mutation of the androgen receptor gene determines phenotype in androgen insensitivity syndrome. 6 61 54
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. 61 6
12213902 2002
6
Genotype versus phenotype in families with androgen insensitivity syndrome. 6 61
11549642 2001
7
A novel substitution (Leu707Arg) in exon 4 of the androgen receptor gene causes complete androgen resistance. 6 54
8626869 1996
8
Leu-676-Pro mutation of the androgen receptor causes complete androgen insensitivity syndrome in a large Hutterite kindred. 61 6
7537149 1995
9
Complete androgen insensitivity syndrome associated with a de novo mutation of the androgen receptor gene detected by single strand conformation polymorphism. 6 61
8096390 1993
10
Androgen receptor gene mutations identified by SSCP in fourteen subjects with androgen insensitivity syndrome. 61 6
1307250 1992
11
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
12
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
13
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. 6 61
3186717 1988
14
Pathophysiology of androgen insensitivity syndromes: molecular and structural approaches of natural and engineered androgen receptor mutations at amino acid 743. 6
12466388 2002
15
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
16
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
17
A unique exonic splicing mutation in the human androgen receptor gene indicates a physiologic relevance of regular androgen receptor transcript variants. 6
11397856 2001
18
Significance of the CAG repeat length in the androgen receptor gene (AR) for the transactivation function of an M780I mutant AR. 6
10323251 1999
19
Mutations of the androgen receptor gene in patients with complete androgen insensitivity. 6
8990010 1997
20
Androgen insensitivity syndrome due to new mutations in the DNA-binding domain of the androgen receptor. 6
8809734 1996
21
A single amino acid substitution (gly743 --> val) in the steroid-binding domain of the human androgen receptor leads to Reifenstein syndrome. 6
8325932 1993
22
Related individuals with different androgen receptor gene deletions. 6
8450042 1993
23
Complete testicular feminization caused by an amino-terminal truncation of the androgen receptor with downstream initiation. 6
8450040 1993
24
Replacement of arginine 773 by cysteine or histidine in the human androgen receptor causes complete androgen insensitivity with different receptor phenotypes. 6
1609793 1992
25
Amber mutation creates a diagnostic MaeI site in the androgen receptor gene of a family with complete androgen insensitivity. 6
1720929 1991
26
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
27
An exonic point mutation of the androgen receptor gene in a family with complete androgen insensitivity. 6
2339702 1990
28
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
29
The human androgen receptor: complementary deoxyribonucleic acid cloning, sequence analysis and gene expression in prostate. 6
3216866 1988
30
Multiplicity of genetic polymorphisms of blood in the Schmiedeleut Hutterites. 6
4061484 1985
31
Novel (60%) and recurrent (40%) androgen receptor gene mutations in a series of 59 patients with a 46,XY disorder of sex development. 61 54
20150575 2010
32
A double nucleotide insertion-induced frame-shift mutation of the androgen receptor gene in a familial complete androgen insensitivity syndrome. 54 61
19815331 2010
33
[Mutation analysis of the androgen receptor gene in a complete androgen insensitivity syndrome family]. 61 54
19953479 2009
34
A case of complete androgen insensitivity syndrome presenting with incarcerated inguinal hernia: an immunohistochemical study. 54 61
19539906 2009
35
Identification of a critical novel mutation in the exon 1 of androgen receptor gene in 2 brothers with complete androgen insensitivity syndrome. 54 61
19023143 2009
36
Androgen receptor roles in spermatogenesis and fertility: lessons from testicular cell-specific androgen receptor knockout mice. 61 54
19176467 2009
37
In-vitro characterization of androgen receptor mutations associated with complete androgen insensitivity syndrome reveals distinct functional deficits. 61 54
18577874 2008
38
Intrinsic androgen-dependent gene expression patterns revealed by comparison of genital fibroblasts from normal males and individuals with complete and partial androgen insensitivity syndrome. 61 54
17945006 2007
39
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. 61 54
17852420 2007
40
L859F mutation in androgen receptor gene results in complete loss of androgen binding to the receptor. 61 54
17522416 2007
41
A novel androgen receptor mutation resulting in complete androgen insensitivity syndrome and bilateral Leydig cell hyperplasia. 54 61
16582414 2006
42
Testicular development in the complete androgen insensitivity syndrome. 54 61
16400621 2006
43
Complete androgen insensitivity syndrome caused by the R855H mutation in the androgen receptor gene. 54 61
15813610 2005
44
Transactivation properties of wild-type and mutant androgen receptors in transiently transfected primary human fibroblasts. 54 61
15812177 2005
45
An examination of how different mutations at arginine 855 of the androgen receptor result in different androgen insensitivity phenotypes. 54 61
15118070 2004
46
Novel androgen receptor gene mutations in Australian patients with complete androgen insensitivity syndrome. 54 61
14974091 2004
47
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. 54 61
14635106 2003
48
Novel point mutations in complete androgen insensitivity syndrome with incomplete müllerian regression: two Taiwanese patients. 54 61
13680382 2003
49
Androgen receptor gene and male infertility. 54 61
12638777 2003
50
Androgen receptor gene mutation identified by PCR-SSCP and sequencing in 4 patients with complete androgen insensitivity syndrome. 61 54
10834333 2000
Sources

Variations for Complete Androgen Insensitivity Syndrome

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ClinVar genetic disease variations for Complete Androgen Insensitivity Syndrome:

6 (show top 50) (show all 184)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 AR NM_000044.6(AR):c.2650A>T (p.Lys884Ter) SNV Pathogenic 9811 rs137852568 X:66943570-66943570 X:67723728-67723728
2 AR NM_000044.6(AR):c.2362A>G (p.Met788Val) SNV Pathogenic 9814 rs137852570 X:66941718-66941718 X:67721876-67721876
3 LOC109504725 NM_000044.6(AR):c.180_181del (p.Gln61fs) Deletion Pathogenic 9815 rs869320731 X:66765168-66765169 X:67545326-67545327
4 AR NM_000044.6(AR):c.2571C>G (p.Phe857Leu) SNV Pathogenic 9816 rs137852598 X:66942790-66942790 X:67722948-67722948
5 AR NM_000044.6(AR):c.2324G>A (p.Arg775His) SNV Pathogenic 9819 rs137852572 X:66941680-66941680 X:67721838-67721838
6 LOC109504725 NM_000044.6(AR):c.178C>T (p.Gln60Ter) SNV Pathogenic 9825 rs137852575 X:66765166-66765166 X:67545324-67545324
7 AR NM_000044.3(AR):c.(2318+1_2319-1)_(2607+1_2608-1)del Deletion Pathogenic 9827
8 AR NM_000044.6(AR):c.2033T>C (p.Leu678Pro) SNV Pathogenic 9832 rs137852579 X:66931391-66931391 X:67711549-67711549
9 AR NM_000044.6(AR):c.2123T>G (p.Leu708Arg) SNV Pathogenic 9837 rs137852585 X:66931481-66931481 X:67711639-67711639
10 AR NM_000044.6(AR):c.1739G>T (p.Cys580Phe) SNV Pathogenic 9838 rs137852586 X:66863220-66863220 X:67643378-67643378
11 AR NM_000044.6(AR):c.1748T>A (p.Phe583Tyr) SNV Pathogenic 9839 rs137852587 X:66863229-66863229 X:67643387-67643387
12 AR NM_000044.6(AR):c.2343G>T (p.Met781Ile) SNV Pathogenic 9842 rs137852589 X:66941699-66941699 X:67721857-67721857
13 LOC109504725 NM_000044.6(AR):c.179dup (p.Gln61fs) Duplication Pathogenic 9848 rs759327087 X:66765166-66765167 X:67545324-67545325
14 AR NM_000044.6(AR):c.2667C>T (p.Ser889=) SNV Pathogenic 9850 rs137852594 X:66943587-66943587 X:67723745-67723745
15 AR NM_000044.6(AR):c.2137C>T (p.Leu713Phe) SNV Pathogenic 9852 rs137852595 X:66931495-66931495 X:67711653-67711653
16 AR NM_000044.6(AR):c.1732G>A (p.Gly578Arg) SNV Pathogenic 9853 rs137852596 X:66863213-66863213 X:67643371-67643371
17 AR NM_000044.6(AR):c.2596T>C (p.Ser866Pro) SNV Pathogenic 9854 rs137852597 X:66942815-66942815 X:67722973-67722973
18 AR NM_000044.6(AR):c.865G>T (p.Glu289Ter) SNV Pathogenic 373921 rs750324117 X:66765853-66765853 X:67546011-67546011
19 AR NM_000044.6(AR):c.1846C>T (p.Arg616Cys) SNV Pathogenic 434266 rs1555990485 X:66905929-66905929 X:67686087-67686087
20 LOC109504725 NM_000044.6(AR):c.172CAG[(38_?)] (p.Gln80_Glu81insGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGln) Microsatellite Pathogenic 155759 X:66765160-66765162 X:67545318-67545320
21 AR NM_000044.6(AR):c.2495G>A (p.Arg832Gln) SNV Pathogenic 458366 rs1386577803 X:66942714-66942714 X:67722872-67722872
22 AR NM_000044.6(AR):c.292C>T (p.Gln98Ter) SNV Pathogenic 464802 rs1555969553 X:66765280-66765280 X:67545438-67545438
23 AR NM_000044.6(AR):c.1847G>A (p.Arg616His) SNV Pathogenic 279684 rs754201976 X:66905930-66905930 X:67686088-67686088
24 AR NM_000044.6(AR):c.2359C>T (p.Arg787Ter) SNV Pathogenic 458364 rs1555997580 X:66941715-66941715 X:67721873-67721873
25 AR NM_000044.6(AR):c.2176T>C (p.Phe726Leu) SNV Pathogenic 458362 rs1555996810 X:66937322-66937322 X:67717480-67717480
26 AR NC_000023.11:g.(?_67686010)_(67686126_?)del Deletion Pathogenic 464783 X:66905852-66905968 X:67686010-67686126
27 AR NM_000044.6(AR):c.1440dup (p.Tyr481fs) Duplication Pathogenic 464787 rs1555970004 X:66766423-66766424 X:67546581-67546582
28 AR NM_000044.6(AR):c.1443C>G (p.Tyr481Ter) SNV Pathogenic 458358 rs766161615 X:66766431-66766431 X:67546589-67546589
29 AR NM_000044.6(AR):c.2296G>A (p.Ala766Thr) SNV Pathogenic 458363 rs1555996863 X:66937442-66937442 X:67717600-67717600
30 AR NM_000044.6(AR):c.749dup (p.Val251fs) Duplication Pathogenic 464803 rs1555969684 X:66765734-66765735 X:67545892-67545893
31 AR NM_000044.6(AR):c.321C>A (p.Tyr107Ter) SNV Pathogenic 458367 rs1481151440 X:66765309-66765309 X:67545467-67545467
32 LOC109504725 NM_000044.6(AR):c.268C>T (p.Gln90Ter) SNV Pathogenic 458365 rs1555969545 X:66765256-66765256 X:67545414-67545414
33 AR NM_000044.6(AR):c.2281_2287delinsTTCGCCCCTGA (p.Arg761fs) Indel Pathogenic 9859 rs869320732 X:66937427-66937433 X:67717585-67717591
34 AR NM_000044.6(AR):c.2231G>A (p.Gly744Glu) SNV Pathogenic 9858 rs137852600 X:66937377-66937377 X:67717535-67717535
35 AR NM_000044.6(AR):c.2231G>T (p.Gly744Val) SNV Pathogenic 9857 rs137852600 X:66937377-66937377 X:67717535-67717535
36 AR NM_000044.6(AR):c.2069A>C (p.His690Pro) SNV Pathogenic 9856 rs137852599 X:66931427-66931427 X:67711585-67711585
37 AR NM_000044.6(AR):c.2521C>T (p.Arg841Cys) SNV Pathogenic 9830 rs137852577 X:66942740-66942740 X:67722898-67722898
38 AR NM_000044.3(AR):c.(2173+1_2174-1)_(2318+1_2319-1)del Deletion Pathogenic 9826
39 AR NM_000044.6(AR):c.1771A>T (p.Lys591Ter) SNV Pathogenic 9808 rs137852566 X:66905854-66905854 X:67686012-67686012
40 AR NM_000044.6(AR):c.2391G>A (p.Trp797Ter) SNV Pathogenic 9807 rs137852565 X:66941747-66941747 X:67721905-67721905
41 AR NM_000044.6(AR):c.2599G>A (p.Val867Met) SNV Pathogenic 9806 rs137852564 X:66942818-66942818 X:67722976-67722976
42 AR NM_000044.6(AR):c.2157G>A (p.Trp719Ter) SNV Pathogenic 9805 rs137852563 X:66931515-66931515 X:67711673-67711673
43 AR NM_000044.6(AR):c.2323C>T (p.Arg775Cys) SNV Pathogenic 9804 rs137852562 X:66941679-66941679 X:67721837-67721837
44 AR AR, PARTIAL DEL Deletion Pathogenic 9803
45 AR AR, PARTIAL DEL Deletion Pathogenic 9802
46 AR NM_000044.6(AR):c.2086G>A (p.Asp696Asn) SNV Pathogenic 492787 rs1555995840 X:66931444-66931444 X:67711602-67711602
47 AR NM_000044.6(AR):c.2155T>C (p.Trp719Arg) SNV Pathogenic 492790 rs1555995865 X:66931513-66931513 X:67711671-67711671
48 LOC109504725 NM_000044.6(AR):c.217C>T (p.Gln73Ter) SNV Pathogenic 492776 rs1199988820 X:66765205-66765205 X:67545363-67545363
49 AR NM_000044.6(AR):c.2720_2721del (p.Ile907fs) Deletion Pathogenic 492805 rs1555998114 X:66943640-66943641 X:67723798-67723799
50 AR NM_000044.6(AR):c.2266del (p.Thr756fs) Deletion Pathogenic 492793 rs1555996855 X:66937412-66937412 X:67717570-67717570
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Expression for Complete Androgen Insensitivity Syndrome

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

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

# Super pathways Score Top Affiliating Genes
1
Metabolism of proteins 65
Show member pathways
 13.28 MUC5AC MUC1 IGFBP3 IGFBP2 IGF2 CGA
2
Glucose / Energy Metabolism 4
11.95 NR1H2 IGFBP3 IGFBP2 CYP19A1
3
Follicle Stimulating Hormone (FSH) signaling pathway 1
10.8 CYP19A1 CGA
4
Transcription_Role of VDR in regulation of genes involved in osteoporosis 23
10.79 CYP19A1 CGA AR
5
Nongenotropic Androgen signaling 1
10.58 SHBG AR
6
Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs) 65
10.12 IGFBP3 IGFBP2 IGF2
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GO Terms for Complete Androgen Insensitivity Syndrome

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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 9.33 IGFBP3 IGF2 AR
2 positive regulation of activated T cell proliferation GO:0042104 9.26 IGFBP2 IGF2
3 positive regulation of insulin-like growth factor receptor signaling pathway GO:0043568 8.96 IGFBP3 AR
4 regulation of insulin-like growth factor receptor signaling pathway GO:0043567 8.62 IGFBP3 IGFBP2

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

# Name GO ID Score Top Affiliating Genes
1 steroid binding GO:0005496 9.32 SHBG AR
2 insulin-like growth factor binding GO:0005520 9.26 IGFBP3 IGFBP2
3 insulin-like growth factor I binding GO:0031994 9.16 IGFBP3 IGFBP2
4 insulin-like growth factor II binding GO:0031995 8.96 IGFBP3 IGFBP2
5 androgen binding GO:0005497 8.62 SHBG AR
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Sources for Complete Androgen Insensitivity Syndrome

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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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