PAIS
MCID: AND020
MIFTS: 55

Androgen Insensitivity, Partial (PAIS)

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

Aliases & Classifications for Androgen Insensitivity, Partial

MalaCards integrated aliases for Androgen Insensitivity, Partial:

Name: Androgen Insensitivity, Partial 56 73
Partial Androgen Insensitivity Syndrome 52 58 29 6
Reifenstein Syndrome 56 74 73 71
Pais 56 52 58 73
Androgen Insensitivity, Partial, with or Without Breast Cancer 56 52 13
Familial Incomplete Male Pseudohermaphroditism, Type 1 56 73
Syndrome, Insensitivity, Androgen, Partial, with or Without Breast Cancer 39
Androgen Insensitivity Partial with or Without Breast Cancer 73
Androgen Insensitivity Syndrome, Partial 52
Androgen Insensitivity Syndrome Partial 54
Androgen Resistance Syndrome, Partial 52
Partial Androgen Resistance Syndrome 58
Reifenstein Syndrome, Partial 52

Characteristics:

Orphanet epidemiological data:

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

OMIM:

56
Miscellaneous:
infertility

Inheritance:
x-linked recessive


HPO:

31
androgen insensitivity, partial:
Inheritance x-linked recessive inheritance


Classifications:

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


External Ids:

OMIM 56 312300
MeSH 43 D013734
ICD10 via Orphanet 33 E34.5
UMLS via Orphanet 72 C0268301 C0860159
Orphanet 58 ORPHA90797
MedGen 41 C0268301
UMLS 71 C0268301

Summaries for Androgen Insensitivity, Partial

NIH Rare Diseases : 52 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 pseudovaginal perineoscrotal hypospadias. An important gene associated with Androgen Insensitivity, Partial is AR (Androgen Receptor), and among its related pathways/superpathways are Integrated Breast Cancer Pathway and Transcription Androgen Receptor nuclear signaling. The drugs Darbepoetin alfa and Liver Extracts have been mentioned in the context of this disorder. Affiliated tissues include breast, prostate and kidney, and related phenotypes are cryptorchidism and hypospadias

OMIM : 56 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)

UniProtKB/Swiss-Prot : 73 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 : 74 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 672)
# Related Disease Score Top Affiliating Genes
1 androgen insensitivity syndrome 30.7 SRD5A1 SHBG LYVE1 AR
2 pseudovaginal perineoscrotal hypospadias 30.2 SRD5A1 AR
3 pseudohermaphroditism 29.9 SRD5A1 CYP19A1 AR
4 hermaphroditism 29.8 SHBG AR
5 47, xxy 29.8 SHBG AR
6 hypospadias 29.5 SRD5A1 AR
7 sexual disorder 29.5 SHBG AR
8 ovarian hyperstimulation syndrome 29.4 SHBG CYP19A1
9 hypogonadism 29.3 SHBG CYP19A1 AR
10 infertility 29.3 SHBG CYP19A1 AR
11 stuttering 29.2 SHBG CYP19A1
12 neurofibromatosis, type ii 29.2 SRD5A1 SHBG
13 hypogonadotropic hypogonadism 29.2 SHBG CYP19A1 AR
14 alopecia 29.1 SRD5A1 SHBG AR
15 impotence 29.0 SRD5A1 SHBG AR
16 prostatic hypertrophy 29.0 SRD5A1 CYP19A1 AR
17 lipoid congenital adrenal hyperplasia 29.0 SRD5A1 SHBG CYP19A1
18 turner syndrome 28.9 SHBG AR
19 complete androgen insensitivity syndrome 28.9 SHBG LYVE1 CYP19A1 AR
20 osteoporosis 28.7 SHBG CYP19A1 AR
21 testicular cancer 28.7 SHBG AR
22 prostatic hyperplasia, benign 28.6 SRD5A1 SHBG AR
23 ovarian disease 28.6 SHBG CYP19A1 AR
24 anovulation 28.6 SRD5A1 SHBG CYP19A1
25 polycystic ovary syndrome 28.4 SRD5A1 SHBG CYP19A1 AR
26 gynecomastia 28.3 SRD5A1 SHBG CYP19A1 AR
27 cryptorchidism, unilateral or bilateral 28.0 SRD5A1 SHBG CYP19A1 AR
28 prostate cancer 27.7 SRD5A1 SHBG LYVE1 CYP19A1 AR
29 x-linked intellectual disability, pai type 12.3
30 cleft, median, of upper lip with polyps of facial skin and nasal mucosa 12.2
31 attention deficit-hyperactivity disorder 11.8
32 dementia 11.6
33 hypogonadism, male 11.6
34 schizophrenia 11.5
35 ovarian cancer 11.5
36 learning disability 11.5
37 dementia, lewy body 11.1
38 multicentric carpotarsal osteolysis syndrome 11.1
39 smith-magenis syndrome 11.1
40 kleptomania 11.1
41 kidney disease 10.4
42 lipomatosis, multiple 10.3
43 pleomorphic lipoma 10.3
44 cervical cancer 10.3
45 substance abuse 10.3
46 human immunodeficiency virus type 1 10.3
47 cataract 10.3
48 syndrome with 46,xy disorder of sex development 10.2
49 yemenite deaf-blind hypopigmentation syndrome 10.2
50 myocardial infarction 10.2

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 hypospadias 58 31 hallmark (90%) Very frequent (99-80%) HP:0000047
3 micropenis 58 31 hallmark (90%) Very frequent (99-80%) HP:0000054
4 bifid scrotum 58 31 hallmark (90%) Very frequent (99-80%) HP:0000048
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 hypogonadism 31 HP:0000135
13 azoospermia 31 HP:0000027
14 male pseudohermaphroditism 31 HP:0000037
15 absent vas deferens 31 HP:0012873
16 abnormality of the rib cage 31 HP:0001547

Symptoms via clinical synopsis from OMIM:

56
Genitourinary Internal Genitalia Male:
hypogonadism
male pseudohermaphroditism
absent vas deferens
testis biopsy shows leydig cell hyperplasia, hyaline tubular ghosts, and mitotic germ cells but no spermatozoa

Chest Breasts:
gynecomastia

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

Genitourinary External Genitalia Male:
hypospadias
micropenis
bifid scrotum

Laboratory Abnormalities:
normal 46,xy karyotype
oligospermia or azoospermia

Clinical features from OMIM:

312300

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

26 (show all 13)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-120 9.47 LYVE1
2 Increased shRNA abundance (Z-score > 2) GR00366-A-161 9.47 LYVE1
3 Increased shRNA abundance (Z-score > 2) GR00366-A-162 9.47 LYVE1
4 Increased shRNA abundance (Z-score > 2) GR00366-A-169 9.47 SHBG
5 Increased shRNA abundance (Z-score > 2) GR00366-A-191 9.47 SHBG
6 Increased shRNA abundance (Z-score > 2) GR00366-A-207 9.47 SHBG
7 Increased shRNA abundance (Z-score > 2) GR00366-A-26 9.47 LYVE1
8 Increased shRNA abundance (Z-score > 2) GR00366-A-45 9.47 LYVE1 SHBG
9 Increased shRNA abundance (Z-score > 2) GR00366-A-46 9.47 SHBG
10 Increased shRNA abundance (Z-score > 2) GR00366-A-69 9.47 SHBG
11 Increased shRNA abundance (Z-score > 2) GR00366-A-73 9.47 LYVE1
12 Increased shRNA abundance (Z-score > 2) GR00366-A-82 9.47 LYVE1
13 Increased shRNA abundance (Z-score > 2) GR00366-A-9 9.47 LYVE1

Drugs & Therapeutics for Androgen Insensitivity, Partial

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

(show all 10)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Darbepoetin alfa Approved, Investigational Phase 2 209810-58-2, 11096-26-7
2 Liver Extracts Phase 1, Phase 2
3 Insulin, Globin Zinc Phase 1, Phase 2
4 insulin Phase 1, Phase 2
5 Hematinics Phase 2
6 Passionflower Phase 1, Phase 2
7
Sodium citrate Approved, Investigational 68-04-2
8
Citric acid Approved, Nutraceutical, Vet_approved 77-92-9 311
9 Plasminogen Activator Inhibitor 1
10 Citrate

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Effect of the Nursing Intervention "Spiritual Support" in the Level of Spirituality and Clinical Parameters in Women With Breast Cancer: a Randomized Clinical Trial Unknown status NCT01866670 Phase 2
2 Bovine Colostrum for Patients With Non Alcoholic Fatty Liver Disease Completed NCT01016418 Phase 1, Phase 2
3 Darbepoetin for Ischemic Neonatal Stroke to Augment Regeneration Recruiting NCT03171818 Phase 2 Darbepoetin Alfa;Saline
4 Adult Mesenchymal Stromal Cells to Regenerate the Neonatal Brain: the PASSIoN Trial (Perinatal Arterial Stroke Treated With Stromal Cells IntraNasally) Not yet recruiting NCT03356821 Phase 1, Phase 2
5 Quality of Life and Sexuality in Women With Gynaecological Cancer Unknown status NCT01589406
6 Angiogenic Cytokines and Fibrinolytic Activity in Parapneumonic Effusions Unknown status NCT01325454
7 Quasi-experimental Study With a Control Group to Evaluate a Multidisciplinary Psychoeducational Intervention on Coping Skills, Psychosocial Adaptation and Quality of Life in Parkinson's Disease Patients and Cares Unknown status NCT03129425
8 Tratamento da Obesidade Pedi ́Atrica (TOP) - Uma Abordagem Multidisciplinar Envolvendo Pais e Pares Completed NCT02024061
9 Peer Administered Group Cognitive Behavioural Therapy for Postpartum Depression Recruiting NCT03285139
10 Design and Evaluation of Adherence to the Transition-discharge-hospital Plan in Patient-family Caregiver With Chronic Pathology in a Health Institution of the Metropolitan Area of Bucaramanga Not yet recruiting NCT04175860

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:

40
Breast, Prostate, Kidney, Liver, Testes, Heart, Skin

Publications for Androgen Insensitivity, Partial

Articles related to Androgen Insensitivity, Partial:

(show top 50) (show all 808)
# Title Authors PMID Year
1
A germline mutation in the androgen receptor gene in two brothers with breast cancer and Reifenstein syndrome. 56 6
1303262 1992
2
Point mutation in the DNA binding domain of the androgen receptor in two families with Reifenstein syndrome. 56 6
1598912 1992
3
Acute stress masking the biochemical phenotype of partial androgen insensitivity syndrome in a patient with a novel mutation in the androgen receptor. 61 6
15001585 2004
4
Response to androgen treatment in a patient with partial androgen insensitivity and a mutation in the deoxyribonucleic acid-binding domain of the androgen receptor. 61 6
9543136 1998
5
Functional analysis of six androgen receptor mutations identified in patients with partial androgen insensitivity syndrome. 61 6
8824883 1996
6
A single amino acid substitution (gly743 --> val) in the steroid-binding domain of the human androgen receptor leads to Reifenstein syndrome. 54 6
8325932 1993
7
Androgen insensitivity syndrome. 56
26303084 2015
8
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
9
Genotype versus phenotype in families with androgen insensitivity syndrome. 56
11549642 2001
10
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
11
Directed pharmacological therapy of ambiguous genitalia due to an androgen receptor gene mutation. 6
10543676 1999
12
Expression of two functionally different androgen receptors in a patient with androgen insensitivity. 6
10485299 1999
13
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
14
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
15
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
16
Human androgen insensitivity due to point mutations encoding amino acid substitutions in the androgen receptor steroid-binding domain. 6
7581399 1995
17
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
18
Complete androgen insensitivity syndrome associated with a de novo mutation of the androgen receptor gene detected by single strand conformation polymorphism. 6
8096390 1993
19
Mutations of the androgen receptor gene identified in perineal hypospadias. 6
8097257 1993
20
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
21
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
22
Androgen resistance associated with a qualitative abnormality of the androgen receptor and responsive to high dose androgen therapy. 6
2918059 1989
23
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. 56
6541981 1984
24
The frequency of androgen receptor deficiency in infertile men. 56
6801070 1982
25
The syndromes of androgen resistance. 56
6985704 1980
26
Androgen insensitivity as a cause of infertility in otherwise normal men. 56
759869 1979
27
Partial androgen insensitivity: the Reifenstein syndrome revisited. 56
876326 1977
28
Male pseudohermaphroditism with partial androgen insensitivity. 56
834506 1977
29
Linkage investigation of a large family with Reifenstein's syndrome. 56
236106 1975
30
Letter: Incomplete male pseudohermaphroditism. 56
4407117 1974
31
Familial incomplete male pseudohermaphroditism, type 1. Evidence for androgen resistance and variable clinical manifestations in a family with the Reifenstein syndrome. 56
4821173 1974
32
Reifenstein's syndrome: investigation of linkage to X-chromosomal loci. 56
4547688 1974
33
Incomplete testicular feminization. 56
5491888 1970
34
Familial male pseudohermaphroditism. 56
5434881 1970
35
FAMILIAL GYNECOMASTIA. 56
14327504 1965
36
FAMILIAL MALE PSEUDOHERMAPHRODITISM. 56
14329824 1965
37
HEREDITARY MALE PSEUDOHERMAPHRODITISM WITH HYPOGONADISM, HYPOSPADIAS, AND GYNECOMASTIA: REIFENSTEIN'S SYNDROME. 56
14259209 1965
38
Familial male pseudohermaphrodism with labial testes and partial feminization: endocrine studies and genetic aspects. 56
14418653 1959
39
[Case of familial androgynism with severe hypospadias, gynecomastia and excessive estrogen production]. 56
13444780 1957
40
Familial hypogonadotropic eunuchoidism. 56
13242646 1955
41
Familial gynecomastia associated with genital abnormalities: report of a family. 56
13233329 1955
42
The syndrome of testicular feminization in male pseudohermaphrodites. 56
13057950 1953
43
Mutational analysis of the androgen receptor gene in two Indian families with partial androgen insensitivity syndrome. 54 61
20333878 2009
44
A novel mutation in the D-box of the androgen receptor gene (S597R) in two unrelated individuals Is associated with both normal phenotype and severe PAIS. 54 61
14646391 2004
45
Association of the Hind III polymorphism with the androgen receptor gene in partial androgen insensitivity syndrome. 54 61
1683208 1991
46
Delayed diagnosis of posterior ankle impingement in pediatric and adolescent patients: does radiology play a role? 61
31707447 2020
47
The pan-genome of Treponema pallidum reveals differences in genome plasticity between subspecies related to venereal and non-venereal syphilis. 61
31924165 2020
48
Comparative genomic analysis and identification of pathogenicity islands of hypervirulent ST-17 Streptococcus agalactiae Brazilian strain. 61
31954181 2020
49
Pulmonary intimal sarcoma involving the pulmonary valve and right ventricular outflow tract: A case report and literature review. 61
32011489 2020
50
The importance of O3 excited potential energy surfaces in O2-O high-temperature kinetics. 61
32007085 2020

Variations for Androgen Insensitivity, Partial

ClinVar genetic disease variations for Androgen Insensitivity, Partial:

6 (show all 20) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 AR NM_000044.6(AR):c.2599G>T (p.Val867Leu)SNV Pathogenic 9822 rs137852564 X:66942818-66942818 X:67722976-67722976
2 AR NM_000044.6(AR):c.2567G>A (p.Arg856His)SNV Pathogenic 9823 rs9332971 X:66942786-66942786 X:67722944-67722944
3 AR NM_000044.6(AR):c.2522G>A (p.Arg841His)SNV Pathogenic 9829 rs9332969 X:66942741-66942741 X:67722899-67722899
4 AR NM_000044.6(AR):c.2521C>T (p.Arg841Cys)SNV Pathogenic 9830 rs137852577 X:66942740-66942740 X:67722898-67722898
5 AR NM_000044.6(AR):c.4G>A (p.Glu2Lys)SNV Pathogenic 9841 rs104894742 X:66764992-66764992 X:67545150-67545150
6 AR AR, IVS2AS, T-A, -11SNV Pathogenic 9844
7 AR NM_000044.6(AR):c.521T>G (p.Leu174Ter)SNV Pathogenic 9845 rs137852590 X:66765509-66765509 X:67545667-67545667
8 AR NM_000044.6(AR):c.2599G>A (p.Val867Met)SNV Pathogenic 9806 rs137852564 X:66942818-66942818 X:67722976-67722976
9 AR NM_000044.6(AR):c.2291A>G (p.Tyr764Cys)SNV Pathogenic 9810 rs137852567 X:66937437-66937437 X:67717595-67717595
10 AR NM_000044.6(AR):c.1789G>A (p.Ala597Thr)SNV Pathogenic 9813 rs137852569 X:66905872-66905872 X:67686030-67686030
11 AR NM_000044.6(AR):c.2423T>C (p.Met808Thr)SNV Pathogenic 9847 rs137852592 X:66941779-66941779 X:67721937-67721937
12 AR NM_000044.6(AR):c.2449+5G>TSNV Pathogenic 9851 X:66941810-66941810 X:67721968-67721968
13 AR NM_000044.6(AR):c.2231G>T (p.Gly744Val)SNV Pathogenic 9857 rs137852600 X:66937377-66937377 X:67717535-67717535
14 AR NM_000044.6(AR):c.2222C>G (p.Ser741Cys)SNV Pathogenic 9860 rs137852601 X:66937368-66937368 X:67717526-67717526
15 AR NM_000044.6(AR):c.1823G>A (p.Arg608Gln)SNV Pathogenic/Likely pathogenic 9820 rs137852573 X:66905906-66905906 X:67686064-67686064
16 AR NM_000044.6(AR):c.2395C>G (p.Gln799Glu)SNV Likely pathogenic 9846 rs137852591 X:66941751-66941751 X:67721909-67721909
17 AR NM_000044.6(AR):c.1768+2T>CSNV Likely pathogenic 448902 rs1555982894 X:66863251-66863251 X:67643409-67643409
18 AR NM_000044.6(AR):c.1174C>T (p.Pro392Ser)SNV Conflicting interpretations of pathogenicity 216890 rs201934623 X:66766162-66766162 X:67546320-67546320
19 AR NM_000044.6(AR):c.1937C>A (p.Ala646Asp)SNV Conflicting interpretations of pathogenicity 9861 rs1800053 X:66931295-66931295 X:67711453-67711453
20 AR NM_000044.6(AR):c.173A>T (p.Gln58Leu)SNV Uncertain significance 402390 rs200185441 X:66765161-66765161 X:67545319-67545319

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

73 (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 9.46 SRD5A1 AR
2 electron transport chain GO:0022900 9.43 SRD5A1 CYP19A1
3 steroid biosynthetic process GO:0006694 9.4 SRD5A1 CYP19A1
4 sex differentiation GO:0007548 9.37 SRD5A1 AR
5 androgen metabolic process GO:0008209 9.32 SRD5A1 CYP19A1
6 cellular response to testosterone stimulus GO:0071394 9.26 SRD5A1 AR
7 prostate gland growth GO:0060736 9.16 CYP19A1 AR
8 female genitalia development GO:0030540 8.96 SRD5A1 CYP19A1
9 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

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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