Androgen Insensitivity, Partial (PAIS)

Categories: Cancer diseases, Endocrine diseases, Fetal diseases, Genetic diseases, Rare diseases, Reproductive diseases, Skin diseases

Aliases & Classifications for Androgen Insensitivity, Partial

MalaCards integrated aliases for Androgen Insensitivity, Partial:

Name: Androgen Insensitivity, Partial 57 72
Partial Androgen Insensitivity Syndrome 12 20 58 29 6
Reifenstein Syndrome 57 12 73 72 70
Pais 57 20 58 72
Androgen Insensitivity, Partial, with or Without Breast Cancer 57 20 13
Familial Incomplete Male Pseudohermaphroditism, Type 1 57 72
Syndrome, Insensitivity, Androgen, Partial, with or Without Breast Cancer 39
Androgen Insensitivity Partial with or Without Breast Cancer 72
Androgen Insensitivity Syndrome, Partial 20
Androgen Insensitivity Syndrome Partial 54
Androgen Resistance Syndrome, Partial 20
Partial Androgen Resistance Syndrome 58
Reifenstein Syndrome, Partial 20


Orphanet epidemiological data:

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


57 (Updated 20-May-2021)

x-linked recessive


androgen insensitivity, partial:
Inheritance x-linked recessive inheritance


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

External Ids:

Disease Ontology 12 DOID:0080776
OMIM® 57 312300
MeSH 44 D013734
ICD10 via Orphanet 33 E34.5
UMLS via Orphanet 71 C0268301 C0860159
Orphanet 58 ORPHA90797
MedGen 41 C0268301
UMLS 70 C0268301

Summaries for Androgen Insensitivity, Partial

GARD : 20 Partial androgen insensitivity syndrome (PAIS) is a disorder of sex development that affects the growing reproductive and genital organs of a fetus. Androgen insensitivity refers to the inability of the body of an individual with a 46, XY karyotype (usually leading to normal male development) to properly respond to male sex hormones (androgens). In PAIS, the body partially responds to these hormones. Signs and symptoms of PAIS can vary greatly, causing a range of differences in genital appearance. Some individuals have severe hypospadias, an unusually small penis, and bifid scrotum. More severely affected individuals may have female external genitalia with an abnormally large clitoris, partial fusion of the labia and gynecomastia (excessive development of male breasts). In the least severe cases, the only symptom may be infertility. PAIS It is inherited in an X-linked recessive manner and is caused by mutations in the AR gene. Treatment depends on severity and whether the individual is being raised as male or female; management may include surgery, hormone replacement and psychological support.

MalaCards based summary : Androgen Insensitivity, Partial, also known as partial androgen insensitivity syndrome, is related to androgen insensitivity syndrome and penis agenesis. An important gene associated with Androgen Insensitivity, Partial is AR (Androgen Receptor), and among its related pathways/superpathways are Integrated Breast Cancer Pathway and Metabolism of steroid hormones. The drugs Pentoxifylline and Midazolam have been mentioned in the context of this disorder. Affiliated tissues include breast, testes and endothelial, and related phenotypes are cryptorchidism and micropenis

Disease Ontology : 12 An androgen insensitivity syndrome that is characterized by a 46,XY karyotype and testes that produce age-appropriate androgen levels but have undermasculinized external genitalia due to defects in androgen action.

OMIM® : 57 Individuals with androgen insensitivity have a 46,XY karyotype and testes that produce age-appropriate androgen levels but have undermasculinized external genitalia due to defects in androgen action. The phenotype in PAIS varies depending on residual androgen receptor function, ranging from severe undermasculinization presenting as female-like external genitalia to male-appearing genitalia. The typical presentation comprises micropenis, severe hypospadias, and bifid scrotum with or without cryptorchidism (summary by Mongan et al., 2015). (312300) (Updated 20-May-2021)

UniProtKB/Swiss-Prot : 72 Androgen insensitivity, partial: A disorder that is characterized by hypospadias, hypogonadism, gynecomastia, genital ambiguity, normal XY karyotype, and a pedigree pattern consistent with X-linked recessive inheritance. Some patients present azoospermia or severe oligospermia without other clinical manifestations.

Wikipedia : 73 Partial androgen insensitivity syndrome (PAIS) is a condition that results in the partial inability of... more...

Related Diseases for Androgen Insensitivity, Partial

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

(show top 50) (show all 91)
# Related Disease Score Top Affiliating Genes
1 androgen insensitivity syndrome 30.5 SRD5A1 SHBG LYVE1 AR
2 penis agenesis 30.1 SRD5A1 AR
3 hermaphroditism 30.0 SHBG AR
4 lipoid congenital adrenal hyperplasia 30.0 SRD5A1 CYP19A1
5 hypospadias 29.9 SRD5A1 AR
6 pseudohermaphroditism 29.8 SRD5A1 CYP19A1 AR
7 spinal and bulbar muscular atrophy, x-linked 1 29.8 LYVE1 AR
8 aromatase excess syndrome 29.7 SHBG CYP19A1 AR
9 disorder of sexual development 29.5 SHBG CYP19A1 AR
10 hypogonadotropic hypogonadism 29.5 SHBG CYP19A1 AR
11 infertility 29.5 SHBG CYP19A1 AR
12 stuttering 29.4 SHBG CYP19A1
13 gynecomastia 28.8 SRD5A1 SHBG CYP19A1 AR
14 cryptorchidism, unilateral or bilateral 28.8 SRD5A1 SHBG CYP19A1 AR
15 complete androgen insensitivity syndrome 28.7 SHBG LYVE1 CYP19A1 AR
16 hypogonadism, male 11.0
17 hypogonadism 10.3
18 gonadal dysgenesis 10.2
19 stroke, ischemic 10.1
20 temporal arteritis 10.1
21 ectodermal dysplasia-syndactyly syndrome 2 10.1
22 robinow syndrome 10.1
23 inguinal hernia 10.1
24 muscular atrophy 10.1
25 47,xyy 10.1
26 ovarian endometrioid stromal sarcoma 10.1 CYP19A1 AR
27 transsexualism 10.1 CYP19A1 AR
28 prostatic hyperplasia, benign 10.1 SRD5A1 AR
29 gender identity disorder 10.1 CYP19A1 AR
30 premature ejaculation 10.1 CYP19A1 AR
31 sertoli cell tumor 10.0 CYP19A1 AR
32 breast fibroadenoma 10.0 CYP19A1 AR
33 estrogen-receptor negative breast cancer 10.0 CYP19A1 AR
34 teeth hard tissue disease 10.0 CYP19A1 AR
35 leprosy 3 10.0
36 hansen's disease 10.0
37 female breast cancer 10.0 CYP19A1 AR
38 testicular germ cell tumor 10.0 CYP19A1 AR
39 estrogen-receptor positive breast cancer 10.0 CYP19A1 AR
40 coloboma of macula 9.9
41 pseudovaginal perineoscrotal hypospadias 9.9
42 azoospermia 9.9
43 leydig cell tumor 9.9
44 endometrial hyperplasia 9.9 CYP19A1 AR
45 ductal carcinoma in situ 9.9 CYP19A1 AR
46 sebaceous gland disease 9.9 SHBG AR
47 sexual disorder 9.9 SHBG AR
48 hypoactive sexual desire disorder 9.9 SHBG CYP19A1
49 luteoma 9.9 SHBG CYP19A1
50 estrogen excess 9.9 SHBG CYP19A1

Graphical network of the top 20 diseases related to Androgen Insensitivity, Partial:

Diseases related to Androgen Insensitivity, Partial

Symptoms & Phenotypes for Androgen Insensitivity, Partial

Human phenotypes related to Androgen Insensitivity, Partial:

58 31 (show all 16)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 cryptorchidism 58 31 very rare (1%) Very frequent (99-80%) HP:0000028
2 micropenis 58 31 hallmark (90%) Very frequent (99-80%) HP:0000054
3 bifid scrotum 58 31 hallmark (90%) Very frequent (99-80%) HP:0000048
4 hypospadias 58 31 hallmark (90%) Very frequent (99-80%) HP:0000047
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 female pseudohermaphroditism 58 31 frequent (33%) Frequent (79-30%) HP:0010458
8 gonadal neoplasm 58 31 frequent (33%) Frequent (79-30%) HP:0010785
9 osteoporosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0000939
10 gynecomastia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000771
11 perineal hypospadias 31 very rare (1%) HP:0000051
12 azoospermia 31 HP:0000027
13 male pseudohermaphroditism 31 HP:0000037
14 hypogonadism 31 HP:0000135
15 absent vas deferens 31 HP:0012873
16 abnormal rib cage morphology 31 HP:0001547

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Genitourinary External Genitalia Male:
bifid scrotum

Genitourinary Internal Genitalia Male:
male pseudohermaphroditism
absent vas deferens
testis biopsy shows leydig cell hyperplasia, hyaline tubular ghosts, and mitotic germ cells but no spermatozoa

Endocrine Features:
high testosterone
partial deficiency of cytoplasmic dht-binding
high fsh secondary to androgen insensitivity

Chest Breasts:

Laboratory Abnormalities:
normal 46,xy karyotype
oligospermia or azoospermia

Clinical features from OMIM®:

312300 (Updated 20-May-2021)

GenomeRNAi Phenotypes related to Androgen Insensitivity, Partial according to GeneCards Suite gene sharing:

26 (show all 12)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-120 9.4 LYVE1
2 Increased shRNA abundance (Z-score > 2) GR00366-A-145 9.4 LYVE1
3 Increased shRNA abundance (Z-score > 2) GR00366-A-148 9.4 LYVE1
4 Increased shRNA abundance (Z-score > 2) GR00366-A-161 9.4 LYVE1
5 Increased shRNA abundance (Z-score > 2) GR00366-A-169 9.4 SHBG
6 Increased shRNA abundance (Z-score > 2) GR00366-A-191 9.4 SHBG
7 Increased shRNA abundance (Z-score > 2) GR00366-A-204 9.4 LYVE1
8 Increased shRNA abundance (Z-score > 2) GR00366-A-207 9.4 SHBG
9 Increased shRNA abundance (Z-score > 2) GR00366-A-26 9.4 LYVE1
10 Increased shRNA abundance (Z-score > 2) GR00366-A-45 9.4 SHBG
11 Increased shRNA abundance (Z-score > 2) GR00366-A-46 9.4 SHBG
12 Increased shRNA abundance (Z-score > 2) GR00366-A-82 9.4 LYVE1

Drugs & Therapeutics for Androgen Insensitivity, Partial

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

(show top 50) (show all 172)
# Name Status Phase Clinical Trials Cas Number PubChem Id
Pentoxifylline Approved, Investigational Phase 4 6493-05-6 4740
Midazolam Approved, Illicit Phase 4 59467-70-8 4192
Propofol Approved, Investigational, Vet_approved Phase 4 2078-54-8 4943
Cefazolin Approved Phase 4 25953-19-9 656510 33255
Methylprednisolone hemisuccinate Approved Phase 4 2921-57-5
Methylprednisolone Approved, Vet_approved Phase 4 83-43-2 6741
Prednisolone Approved, Vet_approved Phase 4 50-24-8 5755
Prednisolone phosphate Approved, Vet_approved Phase 4 302-25-0
Prednisolone acetate Approved, Vet_approved Phase 4 52-21-1
Prednisolone hemisuccinate Experimental Phase 4 2920-86-7
11 Hormone Antagonists Phase 4
12 Anti-Infective Agents Phase 4
13 Platelet Aggregation Inhibitors Phase 4
14 Gastrointestinal Agents Phase 4
15 Antiemetics Phase 4
16 Neuroprotective Agents Phase 4
17 Protective Agents Phase 4
18 glucocorticoids Phase 4
19 Antineoplastic Agents, Hormonal Phase 4
20 Anti-Bacterial Agents Phase 4
21 Vasodilator Agents Phase 4
22 Phosphodiesterase Inhibitors Phase 4
23 Antioxidants Phase 4
24 Radiation-Protective Agents Phase 4
25 Psychotropic Drugs Phase 4
26 Hypnotics and Sedatives Phase 4
27 Anesthetics, General Phase 4
28 Anesthetics, Intravenous Phase 4
29 GABA Modulators Phase 4
30 Anti-Anxiety Agents Phase 4
31 Hydroxymethylglutaryl-CoA Reductase Inhibitors Phase 4
32 Angiotensin Receptor Antagonists Phase 4
33 Adrenergic beta-Antagonists Phase 4
34 Angiotensin-Converting Enzyme Inhibitors Phase 4
35 Methylprednisolone Acetate Phase 4
Miconazole Approved, Investigational, Vet_approved Phase 3 22916-47-8 4189
Clotrimazole Approved, Vet_approved Phase 3 23593-75-1 2812
Salicylic acid Approved, Investigational, Vet_approved Phase 3 69-72-7 338
Valsartan Approved, Investigational Phase 3 137862-53-4 60846
Simvastatin Approved Phase 3 79902-63-9 54454
41 Antifungal Agents Phase 3
42 Dermatologic Agents Phase 3
43 Keratolytic Agents Phase 3
44 Hypoglycemic Agents Phase 2, Phase 3
45 Antimetabolites Phase 3
46 Anticholesteremic Agents Phase 3
47 Hypolipidemic Agents Phase 3
48 Angiotensin II Type 1 Receptor Blockers Phase 3
49 Antihypertensive Agents Phase 3
50 Lipid Regulating Agents Phase 3

Interventional clinical trials:

(show top 50) (show all 186)
# Name Status NCT ID Phase Drugs
1 The Effects of Pentoxifylline on PAI-1 in an Obese Population Completed NCT00770328 Phase 4 Pentoxifylline;Placebo
2 The Combination of Adductor Canal Block and Periarticular Injection. A Novel Technique for Patients Undergoing Total Knee Replacement (ACB PAI) Completed NCT02292082 Phase 4 Bupivacaine;Morphine;Methylprednisolone;Cefazolin;Normal saline;Midazolam;Propofol;Dexamethasone
3 Myocardial Infarction Free Rx Event and Economic Evaluation (MI FREEE) Trial: a Randomized Evaluation of First-dollar Coverage for Post-MI Secondary Preventive Therapies Completed NCT00566774 Phase 4
4 Does Periarticular Injection (PAI) Reduce Pain After TKA Among Knee Arthroplasty Patients Receiving Adductor Canal Block and Infiltration Between the Popliteal Artery and the Capsule of the Posterior Knee (ACB&IPACK)? A Blinded, Randomized Controlled Trial. Recruiting NCT04749615 Phase 4 Periarticular Injection (PAI);Saline Control Periarticular Injection (PAI)
5 Integral Attention Program With or Without Palliative Chemotherapy in Advanced Cancer Patients: A Randomized Multicenter Clinical Trial Withdrawn NCT01949974 Phase 4 Standard Palliative Chemotherapy
6 Randomized Controlled Cluster Trial of Resident Pay for Performance and Cardiovascular Outcomes Unknown status NCT01590290 Phase 3
7 Evaluation of Postural Balance in Individuals With Temporomandibular Disorder by Means of Force Platform After Using Occlusal Stabilizer Splint Disorder Completed NCT02251015 Phase 3
8 A Multi-centre Study to Evaluate the Effects of Valsartan and the Combination of Valsartan and Simvastatin on Blood Pressure (Ambulatory and Std Cuff) and on Biochemical Markers of Endothelial Function (hsCRP, MCP-1, Serum F2 Isoprostanes, PAI-1, tPA, PICP, PIIINP, MMP9, MMP1, TIMP 1), Safety and Tolerability Completed NCT00385931 Phase 3 Valsartan and simvastatin
9 Effect of Hyperglycemia in PAI-1 Activity and the Relationship With Outcome in Severe Sepsis and Septic Shock Completed NCT00159952 Phase 2, Phase 3
10 Facilitating HIV Testing Among Young Adult MSM Through Social Networking Completed NCT02369627 Phase 3
11 Phase II Study to Assess the Safety, Imaging, Pharmacodynamic and Clinical Outcomes of Acute Ischemic Stroke Subjects Treated With tPA and THR-18 Unknown status NCT02572336 Phase 2 THR-18;Placebo;Tissue Plasminogen Activator (tPA)
12 Bicalutamide in Treating Patients With AR-positive Metastatic Triple Negative Breast Cancer Unknown status NCT02353988 Phase 2 Bicalutamide
13 The Separate and Combined Effects of Vivitrol and Opiate Abstinence Reinforcement in the Treatment of Opioid Dependence Completed NCT01556425 Phase 2 Vivitrol
14 A Multicenter Randomized Controlled Trail of Ergometer Cycling After Hip and Knee Replacement Surgery Completed NCT00951990 Phase 1, Phase 2
15 Double-blind, Placebo-controlled, Escalating Single-dose, Phase 2a Study to Assess the Safety, Pharmacokinetics, and Pharmacodynamics of THR-18 in Subjects With Acute Ischemic Stroke and Treated With tPA Completed NCT01957774 Phase 2 THR-18;Placebo
16 Darbepoetin for Ischemic Neonatal Stroke to Augment Regeneration Recruiting NCT03171818 Phase 2 Darbepoetin Alfa;Saline
17 Periarticular Injection Versus Peripheral Nerve Block in Total Hip Arthroplasty: a Single Center Randomized Controlled Trail (RCT) Study Recruiting NCT03977454 Phase 2 Ropivacaine;Dex
18 Breathing and Attention Training for Chronic Low Back Pain Not yet recruiting NCT04740710 Phase 1, Phase 2
19 Phase II, Multicenter, Open-label, Rct With an Adaptive Design, to Assess Efficacy of Intravenous Administration of Oxytocin in Hospitalized Patients Affected by COVID-19 Withdrawn NCT04386447 Phase 2 Oxytocin;Standard of Care
20 Change in Executive Functions and in Instrumental Activities of Daily Living as a Result of Intervention by Virtual Supermarket Environment Among People With Mild Cognitive Impairment. Unknown status NCT01103453 Phase 1
21 Testing the Use of Disgust and Shame Messages in Safe Water and Handwashing Promotion in Urban Dhaka Completed NCT02037243 Phase 1
22 The SUUBI Program: Creating Asset-Ownership Opportunities and Health Promotion Among Orphaned Children in Uganda Completed NCT01163695 Phase 1
23 Proof-of-concept Interventional Study to Evaluate the Feasibility of the New Method, LymphMonitor 1.0, to Assess Lymphatic Function, Consisting of Indocyanine Green-based Lymphatic Specific Tracer. and a Custom Fluorescence Measuring Investigational Device LymphMeter 1.0. Completed NCT04393168 Phase 1
24 A Single-center, Open-label, Single-dose Phase I Study to Investigate the Absorption, Metabolism and Excretion of [14C]D-0316 After a Single Oral 75mg/50µCi Dose in Healthy Chinese Male Subjects Not yet recruiting NCT04464551 Phase 1 [14C]D-0316 suspension
25 Analgesia After Total Knee Arthroplasty: Adductor Canal Block With Periarticular Injection and IPACK (ACB/PAI/IPACK) Versus Periarticular Injection (PAI). A Double-Blinded Randomized Controlled Trial Unknown status NCT03094663 Bupivacaine;Methylprednisolone;Cefazolin;15 cc of bupivacaine 0.25% with 2 mg of preservative free Dexamethasone;25 cc 0.25% bupivacaine;20cc 0.25% bupivacaine;2 mg IV dexamethasone.;bupivacaine 0.5% with epinephrine 30cc
26 A Study of End-User Preferences for and Use of POU Safe Water Technologies in Kenya Unknown status NCT00531869 Early Phase 1
27 Identifying Patients' and Healht Insurers' Preferences Regarding Patient-centred Care by Determining Their Willingness-to-pay for Patient-centred Care Unknown status NCT01834313
28 Relationships Among FVIII, t-PA/PAI-1, and MMP-9 Levels and Intracranial Hemorrhage Complications After Thrombolysis With Alteplase in Patients With Acute Ischemic Stroke: Protocol for a Multicenter Retrospective Study Unknown status NCT03733223 Ateptidase
29 Incidence and Prognosis of Disseminated Intravscular Coagulation in Patients Severe Sepsis and Septic Shock; Association With 4G/5G Polymorphism of PAI-1 Gene Unknown status NCT01211899
30 Vascular Disease and Hbp: Pai-1, Insulin and Genes (Crc): Hypertension Phenotype Unknown status NCT01456208 Para-aminohippuric Acid;Angiotensin II;Norepinephrine
31 Cohort of Children With Acute Immune or Idiopathic Thrombocytopenic Purpura (ITP) : a Prospective Study in Pays De La Loire Unknown status NCT00331357
32 Estimation Des années de Vie ajustées Sur l'incapacité à La réunion et Comparaison à la France métropolitaine et Aux Pays de la Zone Océan Indien Unknown status NCT02905500
33 Angiogenic Cytokines and Fibrinolytic Activity in Parapneumonic Effusions Unknown status NCT01325454
34 Reducing Oral Health Disparity Through Outreach, Evidenced-Based Care, Global Budgeting and the Alternative Quality Contract Unknown status NCT02312921
35 Brief Mindfulness-Based Intervention for Early Psychosis: A Randomized Controlled Study Unknown status NCT02244970
36 Attentional Capacity and Clinician Performance: Eye-Tracking Participants When Using a High-Fidelity Surgical Simulator That Emulates Cardiology Procedures Unknown status NCT02928796
37 Examining the Feasibility of a Brief Adjunctive Mindfulness Intervention for Adolescents With Obesity Unknown status NCT03874377
38 The Effect of Respiration Rate During Pranayama Practice on the Autonomic Nervous System Unknown status NCT03280589 Early Phase 1
39 PrEP Uptake, Adherence, and Retention for African American MSM in Mississippi Unknown status NCT03256435
40 Study of Mindfulness Practice Efficacy in Alcoholic Relapse Prevention Unknown status NCT03150550
41 The Effect of Price and Marketing Variable on the Pain Controlling Effect of Active Drugs in a Clinical Trial. Unknown status NCT01493908 High price;Low price;Low price participants aware paying part;No price;Free of charge
42 The Effect of Personal Activity Intelligence Versus 10,000 Steps Daily on Cardiorespiratory Fitness in Overweight and Obese Completed NCT03336047
43 Effects of Urocortins on Forearm Arterial Blood Flow in Healthy Volunteers Completed NCT01096706 NO clamp;Saline;Fluconazole;Aspirin;Combined
44 Personal Activity Intelligence and Body Weight Completed NCT03260114
45 Personal Activity Intelligence (PAI) in the Treatment of High Blood Pressure: A Pilot Study Completed NCT04151537
46 The Therapeutic Workplace Initiation Study Completed NCT00249470
47 Opiate Replacement Therapy at Release From Incarceration Completed NCT00142935
48 Tratamento da Obesidade Pedi ́Atrica (TOP) - Uma Abordagem Multidisciplinar Envolvendo Pais e Pares Completed NCT02024061
49 Psychosocial Treatment for Gynecology Patients With Comorbid Depression and Pain Completed NCT00895999
50 Randomized Control Trial of Ultrasound-Guided Erector Spinae Block Versus Shoulder Periarticular Anesthetic Infiltration for Pain Control After Arthroscopic Shoulder Surgery Completed NCT03691922

Search NIH Clinical Center for Androgen Insensitivity, Partial

Genetic Tests for Androgen Insensitivity, Partial

Genetic tests related to Androgen Insensitivity, Partial:

# Genetic test Affiliating Genes
1 Partial Androgen Insensitivity Syndrome 29 AR

Anatomical Context for Androgen Insensitivity, Partial

MalaCards organs/tissues related to Androgen Insensitivity, Partial:

Breast, Testes, Endothelial, Uterus, Placenta, Prostate, Eye

Publications for Androgen Insensitivity, Partial

Articles related to Androgen Insensitivity, Partial:

(show top 50) (show all 98)
# Title Authors PMID Year
A germline mutation in the androgen receptor gene in two brothers with breast cancer and Reifenstein syndrome. 57 6 61
1303262 1992
Point mutation in the DNA binding domain of the androgen receptor in two families with Reifenstein syndrome. 6 61 57
1598912 1992
A single amino acid substitution (gly743 --> val) in the steroid-binding domain of the human androgen receptor leads to Reifenstein syndrome. 6 61 54
8325932 1993
The frequency of androgen receptor deficiency in infertile men. 61 57
6801070 1982
Androgen insensitivity as a cause of infertility in otherwise normal men. 61 57
759869 1979
Partial androgen insensitivity: the Reifenstein syndrome revisited. 61 57
876326 1977
Familial incomplete male pseudohermaphroditism, type 1. Evidence for androgen resistance and variable clinical manifestations in a family with the Reifenstein syndrome. 57 61
4821173 1974
Androgen insensitivity syndrome. 57
26303084 2015
The A645D mutation in the hinge region of the human androgen receptor (AR) gene modulates AR activity, depending on the context of the polymorphic glutamine and glycine repeats. 6
16804045 2006
Acute stress masking the biochemical phenotype of partial androgen insensitivity syndrome in a patient with a novel mutation in the androgen receptor. 6
15001585 2004
Genotype versus phenotype in families with androgen insensitivity syndrome. 57
11549642 2001
Novel point mutation in the splice donor site of exon-intron junction 6 of the androgen receptor gene in a patient with partial androgen insensitivity syndrome. 6
10999818 2000
Directed pharmacological therapy of ambiguous genitalia due to an androgen receptor gene mutation. 6
10543676 1999
Expression of two functionally different androgen receptors in a patient with androgen insensitivity. 6
10485299 1999
Azoospermia associated with a mutation in the ligand-binding domain of an androgen receptor displaying normal ligand binding, but defective trans-activation. 6
9851768 1998
Response to androgen treatment in a patient with partial androgen insensitivity and a mutation in the deoxyribonucleic acid-binding domain of the androgen receptor. 6
9543136 1998
Molecular analysis of the androgen-receptor gene in a family with receptor-positive partial androgen insensitivity: an unusual type of intronic mutation. 6
9345099 1997
A novel missense mutation in the amino-terminal domain of the human androgen receptor gene in a family with partial androgen insensitivity syndrome causes reduced efficiency of protein translation. 6
8823308 1996
Functional analysis of six androgen receptor mutations identified in patients with partial androgen insensitivity syndrome. 6
8824883 1996
Human androgen insensitivity due to point mutations encoding amino acid substitutions in the androgen receptor steroid-binding domain. 6
7581399 1995
Substitution of arginine-839 by cysteine or histidine in the androgen receptor causes different receptor phenotypes in cultured cells and coordinate degrees of clinical androgen resistance. 6
8040309 1994
Complete androgen insensitivity syndrome associated with a de novo mutation of the androgen receptor gene detected by single strand conformation polymorphism. 6
8096390 1993
Mutations of the androgen receptor gene identified in perineal hypospadias. 6
8097257 1993
Substitution of valine-865 by methionine or leucine in the human androgen receptor causes complete or partial androgen insensitivity, respectively with distinct androgen receptor phenotypes. 6
8446106 1993
Molecular basis of androgen resistance in a family with a qualitative abnormality of the androgen receptor and responsive to high-dose androgen therapy. 6
2010552 1991
Androgen resistance associated with a qualitative abnormality of the androgen receptor and responsive to high dose androgen therapy. 6
2918059 1989
Endocrine and genetic characterization of cousins with male pseudohermaphroditism: evidence that the Lubs phenotype can result from a mutation that alters the structure of the androgen receptor. 57
6541981 1984
The syndromes of androgen resistance. 57
6985704 1980
Male pseudohermaphroditism with partial androgen insensitivity. 57
834506 1977
Linkage investigation of a large family with Reifenstein's syndrome. 57
236106 1975
Letter: Incomplete male pseudohermaphroditism. 57
4407117 1974
Reifenstein's syndrome: investigation of linkage to X-chromosomal loci. 57
4547688 1974
Incomplete testicular feminization. 57
5491888 1970
Familial male pseudohermaphroditism. 57
5434881 1970
14327504 1965
14329824 1965
14259209 1965
Familial male pseudohermaphrodism with labial testes and partial feminization: endocrine studies and genetic aspects. 57
14418653 1959
[Case of familial androgynism with severe hypospadias, gynecomastia and excessive estrogen production]. 57
13444780 1957
Familial hypogonadotropic eunuchoidism. 57
13242646 1955
Familial gynecomastia associated with genital abnormalities: report of a family. 57
13233329 1955
The syndrome of testicular feminization in male pseudohermaphrodites. 57
13057950 1953
Assessment of androgen receptor function in genital skin fibroblasts using a recombinant adenovirus to deliver an androgen-responsive reporter gene. 61 54
9177411 1997
Differential splicing of human androgen receptor pre-mRNA in X-linked Reifenstein syndrome, because of a deletion involving a putative branch site. 54 61
8128958 1994
Whole Exome Sequencing Identifies a c.C2566T Mutation in the Androgen Receptor in a Chinese Family. 61
28879700 2017
Incomplete androgen insensitivity (Reifenstein syndrome) - a case report. 61
24591911 2010
Mutational analysis of the androgen receptor gene in two Indian families with partial androgen insensitivity syndrome. 54
20333878 2009
Phenotype, hormonal profile and genotype of subjects with partial androgen insensitivity syndrome: report of a family with four adult males and one child with disorder of sexual differentiation. 54
19601939 2009
Hypospadias in a male patient with 21-hydroxylase deficiency. 54
18719294 2008
The role of the pediatrician in the management of children with genital ambiguities. 54
17973056 2007

Variations for Androgen Insensitivity, Partial

ClinVar genetic disease variations for Androgen Insensitivity, Partial:

6 (show all 21)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 AR NM_000044.6(AR):c.2291A>G (p.Tyr764Cys) SNV Pathogenic 9810 rs137852567 GRCh37: X:66937437-66937437
GRCh38: X:67717595-67717595
2 AR NM_000044.6(AR):c.1789G>A (p.Ala597Thr) SNV Pathogenic 9813 rs137852569 GRCh37: X:66905872-66905872
GRCh38: X:67686030-67686030
3 AR NM_000044.6(AR):c.1823G>A (p.Arg608Gln) SNV Pathogenic 9820 rs137852573 GRCh37: X:66905906-66905906
GRCh38: X:67686064-67686064
4 AR NM_000044.6(AR):c.2599G>T (p.Val867Leu) SNV Pathogenic 9822 rs137852564 GRCh37: X:66942818-66942818
GRCh38: X:67722976-67722976
5 AR NM_000044.6(AR):c.2522G>A (p.Arg841His) SNV Pathogenic 9829 rs9332969 GRCh37: X:66942741-66942741
GRCh38: X:67722899-67722899
6 AR NM_000044.6(AR):c.2521C>T (p.Arg841Cys) SNV Pathogenic 9830 rs137852577 GRCh37: X:66942740-66942740
GRCh38: X:67722898-67722898
7 AR NM_000044.6(AR):c.4G>A (p.Glu2Lys) SNV Pathogenic 9841 rs104894742 GRCh37: X:66764992-66764992
GRCh38: X:67545150-67545150
8 AR AR, IVS2AS, T-A, -11 SNV Pathogenic 9844 GRCh37:
9 AR NM_000044.6(AR):c.521T>G (p.Leu174Ter) SNV Pathogenic 9845 rs137852590 GRCh37: X:66765509-66765509
GRCh38: X:67545667-67545667
10 AR NM_000044.6(AR):c.2395C>G (p.Gln799Glu) SNV Pathogenic 9846 rs137852591 GRCh37: X:66941751-66941751
GRCh38: X:67721909-67721909
11 AR NM_000044.6(AR):c.2423T>C (p.Met808Thr) SNV Pathogenic 9847 rs137852592 GRCh37: X:66941779-66941779
GRCh38: X:67721937-67721937
12 AR NM_000044.6(AR):c.2449+5G>T SNV Pathogenic 9851 rs1602278831 GRCh37: X:66941810-66941810
GRCh38: X:67721968-67721968
13 AR NM_000044.6(AR):c.2231G>T (p.Gly744Val) SNV Pathogenic 9857 rs137852600 GRCh37: X:66937377-66937377
GRCh38: X:67717535-67717535
14 AR NM_000044.6(AR):c.2222C>G (p.Ser741Cys) SNV Pathogenic 9860 rs137852601 GRCh37: X:66937368-66937368
GRCh38: X:67717526-67717526
15 AR NM_000044.6(AR):c.1937C>A (p.Ala646Asp) SNV Pathogenic 9861 rs1800053 GRCh37: X:66931295-66931295
GRCh38: X:67711453-67711453
16 AR NM_000044.6(AR):c.1174C>T (p.Pro392Ser) SNV Pathogenic 216890 rs201934623 GRCh37: X:66766162-66766162
GRCh38: X:67546320-67546320
17 AR NM_000044.6(AR):c.2599G>A (p.Val867Met) SNV Pathogenic 9806 rs137852564 GRCh37: X:66942818-66942818
GRCh38: X:67722976-67722976
18 AR NM_000044.6(AR):c.2567G>A (p.Arg856His) SNV Pathogenic 9823 rs9332971 GRCh37: X:66942786-66942786
GRCh38: X:67722944-67722944
19 AR NM_000044.6(AR):c.1768+2T>C SNV Likely pathogenic 448902 rs1555982894 GRCh37: X:66863251-66863251
GRCh38: X:67643409-67643409
20 LOC109504725 , AR NM_000044.6(AR):c.173A>T (p.Gln58Leu) SNV Uncertain significance 402390 rs200185441 GRCh37: X:66765161-66765161
GRCh38: X:67545319-67545319
21 AR NM_000044.6(AR):c.2314A>C (p.Asn772His) SNV not provided 280062 rs886041352 GRCh37: X:66937460-66937460
GRCh38: X:67717618-67717618

UniProtKB/Swiss-Prot genetic disease variations for Androgen Insensitivity, Partial:

72 (show top 50) (show all 60)
# Symbol AA change Variation ID SNP ID
1 AR p.Glu2Lys VAR_004679 rs104894742
2 AR p.Arg608Gln VAR_004684 rs137852573
3 AR p.Arg609Lys VAR_004685 rs137852576
4 AR p.Ile665Asn VAR_004687
5 AR p.Ser704Gly VAR_004693
6 AR p.Met743Ile VAR_004698
7 AR p.Gly744Val VAR_004699 rs137852600
8 AR p.Met750Val VAR_004700 rs108530768
9 AR p.Tyr764Cys VAR_004705 rs137852567
10 AR p.Arg775His VAR_004708 rs137852572
11 AR p.Met781Ile VAR_004711 rs137852589
12 AR p.Gln799Glu VAR_004715 rs137852591
13 AR p.Ser815Asn VAR_004718
14 AR p.Arg841Gly VAR_004722
15 AR p.Val867Leu VAR_004729 rs137852564
16 AR p.Ile870Met VAR_004731 rs137852574
17 AR p.Pro914Ser VAR_004736
18 AR p.Arg841Ser VAR_009229
19 AR p.Leu548Phe VAR_009721 rs139524801
20 AR p.Gly569Trp VAR_009726 rs155598286
21 AR p.Phe583Ser VAR_009737
22 AR p.Phe583Tyr VAR_009738 rs137852587
23 AR p.Ser598Gly VAR_009744 rs142280455
24 AR p.Asp605Tyr VAR_009747
25 AR p.Asn611Thr VAR_009748
26 AR p.Arg616His VAR_009751 rs754201976
27 AR p.Leu617Arg VAR_009754
28 AR p.Arg618Pro VAR_009755
29 AR p.Pro672His VAR_009762
30 AR p.Cys687Arg VAR_009767
31 AR p.Ala688Val VAR_009768
32 AR p.Gly709Ala VAR_009777
33 AR p.Leu713Phe VAR_009780 rs137852595
34 AR p.Leu729Ser VAR_009791
35 AR p.Gln734His VAR_009792
36 AR p.Ile738Thr VAR_009793
37 AR p.Met743Val VAR_009795
38 AR p.Met746Thr VAR_009797
39 AR p.Val747Met VAR_009798
40 AR p.Ala749Asp VAR_009799
41 AR p.Phe755Leu VAR_009805
42 AR p.Asn757Ser VAR_009807 rs141425171
43 AR p.Asn759Thr VAR_009809
44 AR p.Asn772His VAR_009818 rs886041352
45 AR p.Glu773Ala VAR_009819
46 AR p.Glu773Gly VAR_009820
47 AR p.Cys807Tyr VAR_009826 rs106479348
48 AR p.Met808Thr VAR_009827 rs137852592
49 AR p.Leu822Val VAR_009830
50 AR p.Ile842Ser VAR_009833

Expression for Androgen Insensitivity, Partial

Search GEO for disease gene expression data for Androgen Insensitivity, Partial.

Pathways for Androgen Insensitivity, Partial

GO Terms for Androgen Insensitivity, Partial

Cellular components related to Androgen Insensitivity, Partial according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 organelle membrane GO:0031090 8.62 SRD5A1 CYP19A1

Biological processes related to Androgen Insensitivity, Partial according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 male gonad development GO:0008584 9.37 SRD5A1 AR
2 response to estradiol GO:0032355 9.32 SRD5A1 CYP19A1
3 electron transport chain GO:0022900 9.26 SRD5A1 CYP19A1
4 steroid biosynthetic process GO:0006694 9.16 SRD5A1 CYP19A1
5 cellular response to testosterone stimulus GO:0071394 8.96 SRD5A1 AR
6 androgen catabolic process GO:0006710 8.62 SRD5A1 CYP19A1

Molecular functions related to Androgen Insensitivity, Partial according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 electron transfer activity GO:0009055 9.16 SRD5A1 CYP19A1
2 steroid binding GO:0005496 8.96 SHBG AR
3 androgen binding GO:0005497 8.62 SHBG AR

Sources for Androgen Insensitivity, Partial

9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
31 HPO
32 ICD10
33 ICD10 via Orphanet
37 LifeMap
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
69 Tocris
71 UMLS via Orphanet
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