PAIS
MCID: AND020
MIFTS: 51

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 58 76
Partial Androgen Insensitivity Syndrome 54 60 30 6
Reifenstein Syndrome 58 77 76 74
Pais 58 54 60 76
Androgen Insensitivity, Partial, with or Without Breast Cancer 58 54 13
Familial Incomplete Male Pseudohermaphroditism, Type 1 58 76
Syndrome, Insensitivity, Androgen, Partial, with or Without Breast Cancer 41
Androgen Insensitivity Partial with or Without Breast Cancer 76
Androgen Insensitivity Syndrome, Partial 54
Androgen Insensitivity Syndrome Partial 56
Androgen Resistance Syndrome, Partial 54
Partial Androgen Resistance Syndrome 60
Reifenstein Syndrome, Partial 54

Characteristics:

Orphanet epidemiological data:

60
partial androgen insensitivity syndrome
Inheritance: X-linked recessive; Age of onset: All ages; Age of death: normal life expectancy;

OMIM:

58
Miscellaneous:
infertility

Inheritance:
x-linked recessive


HPO:

33
androgen insensitivity, partial:
Inheritance x-linked recessive inheritance


Classifications:



External Ids:

OMIM 58 312300
MeSH 45 D013734
ICD10 via Orphanet 35 E34.5
UMLS via Orphanet 75 C0268301 C0860159
Orphanet 60 ORPHA90797
MedGen 43 C0268301
UMLS 74 C0268301

Summaries for Androgen Insensitivity, Partial

NIH Rare Diseases : 54 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 47, xxy. 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. Affiliated tissues include breast, testes and uterus, and related phenotypes are cryptorchidism and hypospadias

OMIM : 58 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 : 76 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 : 77 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 317)
# Related Disease Score Top Affiliating Genes
1 androgen insensitivity syndrome 31.8 AR LYVE1 SHBG
2 47, xxy 30.1 AR SHBG
3 pseudohermaphroditism 30.0 AR CYP19A1
4 hypospadias 29.8 AR SRD5A1
5 alopecia 29.8 AR SHBG
6 cryptorchidism, unilateral or bilateral 29.6 AR CYP19A1 SHBG
7 impotence 29.4 SHBG SRD5A1
8 anovulation 29.3 CYP19A1 SHBG
9 osteoporosis 29.2 AR CYP19A1 SHBG
10 gynecomastia 29.0 AR CYP19A1 SHBG
11 polycystic ovary syndrome 28.7 CYP19A1 SHBG SRD5A1
12 prostate cancer 28.2 AR CYP19A1 LYVE1 SHBG SRD5A1
13 x-linked intellectual disability, pai type 12.1
14 cleft, median, of upper lip with polyps of facial skin and nasal mucosa 12.0
15 attention deficit-hyperactivity disorder 11.6
16 hypogonadism, male 11.5
17 learning disability 11.4
18 dementia 11.3
19 multicentric carpotarsal osteolysis syndrome 11.0
20 schizophrenia 11.0
21 kleptomania 11.0
22 heparin-induced thrombocytopenia 10.2
23 sex development disorder 10.1
24 postmenopausal atrophic vaginitis 10.1 AR SHBG
25 myocardial infarction 10.1
26 sebaceous gland disease 10.1 AR SHBG
27 hypogonadism 10.0
28 hypogonadotropism 10.0
29 transsexualism 10.0 AR CYP19A1
30 gender identity disorder 10.0 AR CYP19A1
31 male reproductive organ cancer 10.0 AR SHBG
32 prostatic hypertrophy 10.0 AR CYP19A1
33 hypoactive sexual desire disorder 10.0 CYP19A1 SHBG
34 male reproductive system disease 10.0 AR SHBG
35 breast cancer 10.0
36 arthritis 10.0
37 hepatitis 10.0
38 infant gynecomastia 10.0
39 estrogen excess 10.0 CYP19A1 SHBG
40 testicular cancer 10.0 AR SHBG
41 ductal carcinoma in situ 10.0 AR CYP19A1
42 pallister-hall syndrome 10.0
43 human immunodeficiency virus type 1 10.0
44 hyperandrogenism 9.9 CYP19A1 SHBG
45 lipomatosis, multiple 9.9
46 malaria 9.9
47 pol iii-related leukodystrophies 9.9
48 pleomorphic lipoma 9.9
49 schistosomiasis 9.9
50 dumping syndrome 9.9

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:

60 33 (show all 16)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 cryptorchidism 60 33 very rare (1%) Very frequent (99-80%) HP:0000028
2 hypospadias 60 33 hallmark (90%) Very frequent (99-80%) HP:0000047
3 infertility 60 33 hallmark (90%) Very frequent (99-80%) HP:0000789
4 bifid scrotum 60 33 hallmark (90%) Very frequent (99-80%) HP:0000048
5 micropenis 60 33 hallmark (90%) Very frequent (99-80%) HP:0000054
6 aplasia of the uterus 60 33 hallmark (90%) Very frequent (99-80%) HP:0000151
7 female pseudohermaphroditism 60 33 frequent (33%) Frequent (79-30%) HP:0010458
8 gonadal neoplasm 60 33 frequent (33%) Frequent (79-30%) HP:0010785
9 osteoporosis 60 33 occasional (7.5%) Occasional (29-5%) HP:0000939
10 gynecomastia 60 33 occasional (7.5%) Occasional (29-5%) HP:0000771
11 perineal hypospadias 33 very rare (1%) HP:0000051
12 hypogonadism 33 HP:0000135
13 azoospermia 33 HP:0000027
14 male pseudohermaphroditism 33 HP:0000037
15 absent vas deferens 33 HP:0012873
16 abnormality of the rib cage 33 HP:0001547

Symptoms via clinical synopsis from OMIM:

58
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
bifid scrotum
micropenis

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:

27 (show all 11)
# 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-161 9.4 LYVE1
3 Increased shRNA abundance (Z-score > 2) GR00366-A-162 9.4 LYVE1
4 Increased shRNA abundance (Z-score > 2) GR00366-A-169 9.4 SHBG
5 Increased shRNA abundance (Z-score > 2) GR00366-A-207 9.4 SHBG
6 Increased shRNA abundance (Z-score > 2) GR00366-A-45 9.4 LYVE1 SHBG
7 Increased shRNA abundance (Z-score > 2) GR00366-A-46 9.4 SHBG
8 Increased shRNA abundance (Z-score > 2) GR00366-A-69 9.4 SHBG
9 Increased shRNA abundance (Z-score > 2) GR00366-A-73 9.4 LYVE1
10 Increased shRNA abundance (Z-score > 2) GR00366-A-82 9.4 LYVE1
11 Increased shRNA abundance (Z-score > 2) GR00366-A-9 9.4 LYVE1

Drugs & Therapeutics for Androgen Insensitivity, Partial

Search Clinical Trials , 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 30 AR

Anatomical Context for Androgen Insensitivity, Partial

MalaCards organs/tissues related to Androgen Insensitivity, Partial:

42
Breast, Testes, Uterus, Testis

Publications for Androgen Insensitivity, Partial

Articles related to Androgen Insensitivity, Partial:

(show top 50) (show all 64)
# Title Authors Year
1
Postnatal germ cell development during first 18 months of life in testes from boys with non-syndromic cryptorchidism and complete or partial androgen insensitivity syndrome. ( 30739749 )
2019
2
Partial androgen insensitivity syndrome caused by a deep intronic mutation creating an alternative splice acceptor site of the AR gene. ( 29396419 )
2018
3
Partial androgen insensitivity syndrome due to somatic mosaicism of the androgen receptor. ( 29267169 )
2018
4
Predicting puberty in partial androgen insensitivity syndrome: Use of clinical and functional androgen receptor indices. ( 30316867 )
2018
5
Long-term healthcare of people with disorders of sex development: Predictors of pubertal outcomes of partial androgen insensitivity syndrome. ( 30337249 )
2018
6
Long-term Healthcare of People with Disorders of Sex Development: Predictors of Pubertal Outcomes of Partial Androgen Insensitivity Syndrome - Authors' Reply. ( 30385230 )
2018
7
Partial androgen insensitivity syndrome presenting as pubertal gynecomastia: clinical and hormonal findings and a novel mutation in the androgen receptor gene. ( 30601762 )
2018
8
Another Look at Hereditary Partial Androgen Insensitivity Syndrome in an Indigenous Community in the Northern Territory of Australia. ( 29205656 )
2017
9
Heterozygous Nonsense Mutation in the Androgen Receptor Gene Associated with Partial Androgen Insensitivity Syndrome in an Individual with 47,XXY Karyotype. ( 28456808 )
2017
10
Creation of a Neovagina by Laparoscopic Modified Davydov Vaginoplasty in Patients with Partial Androgen Insensitivity Syndrome. ( 28802954 )
2017
11
Re: Topical Dihydrotestosterone to Treat Micropenis Secondary to Partial Androgen Insensitivity Syndrome (PAIS) before, during, and after Puberty-A Case Series. ( 28905769 )
2017
12
The Long Term Outcome Of Boys With Partial Androgen Insensitivity Syndrome And A Mutation In The Androgen Receptor Gene. ( 27403927 )
2016
13
A Novel Mutation In Human Androgen Receptor Gene Causing Partial Androgen Insensitivity Syndrome In A Patient Presenting With Gynecomastia At Puberty. ( 27087292 )
2016
14
Topical dihydrotestosterone to treat micropenis secondary to partial androgen insensitivity syndrome (PAIS) before, during, and after puberty - a case series. ( 26352087 )
2015
15
Invasive Ductal Carcinoma in a 46,XY Partial Androgen Insensitivity Syndrome Patient on Hormone Therapy. ( 26024935 )
2015
16
Partial androgen insensitivity syndrome with persistent mA1llerian remnants. A case report. ( 26242926 )
2015
17
Kennedy's disease and partial androgen insensitivity syndrome. Report of 4 cases and literature review. ( 25857692 )
2015
18
Tamoxifen treatment for pubertal gynecomastia in two siblings with partial androgen insensitivity syndrome. ( 24577144 )
2014
19
Partial Androgen Insensitivity Syndrome Presenting with Gynecomastia. ( 25433660 )
2014
20
Minor hypospadias: the "tip of the iceberg" of the partial androgen insensitivity syndrome. ( 23637914 )
2013
21
Surface rendering of external genitalia of a fetus at the 32nd week of gestation affected by partial androgen insensitivity syndrome. ( 24024055 )
2013
22
Psychosexual outcomes in three siblings with partial androgen insensitivity syndrome: impact of nature versus nurture. ( 23729553 )
2013
23
Male patients with partial androgen insensitivity syndrome: a longitudinal follow-up of growth, reproductive hormones and the development of gynaecomastia. ( 22412043 )
2012
24
Prenatal diagnosis of partial androgen insensitivity syndrome by means of a 4-D ultrasound technique. ( 22260757 )
2012
25
'Idiopathic' partial androgen insensitivity syndrome in 28 newborn and infant males: impact of prenatal exposure to environmental endocrine disruptor chemicals? ( 21788424 )
2011
26
Severe forms of partial androgen insensitivity syndrome due to p.L830F novel mutation in androgen receptor gene in a Brazilian family. ( 21645389 )
2011
27
Partial androgen insensitivity syndrome: a diagnostic and therapeutic dilemma. ( 27365856 )
2011
28
Isolated micropenis reveals partial androgen insensitivity syndrome confirmed by molecular analysis. ( 20305676 )
2010
29
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. ( 19601939 )
2009
30
Mutational analysis of the androgen receptor gene in two Indian families with partial androgen insensitivity syndrome. ( 20333878 )
2009
31
A novel mutation F826L in the human androgen receptor in partial androgen insensitivity syndrome; increased NH2-/COOH-terminal domain interaction and TIF2 co-activation. ( 18656523 )
2008
32
Heterozygous mutation of steroidogenic factor-1 in 46,XY subjects may mimic partial androgen insensitivity syndrome. ( 17488792 )
2007
33
Intrinsic androgen-dependent gene expression patterns revealed by comparison of genital fibroblasts from normal males and individuals with complete and partial androgen insensitivity syndrome. ( 17945006 )
2007
34
Partial androgen insensitivity syndrome with thermolability in the androgen receptor. ( 16448442 )
2006
35
Partial androgen insensitivity syndrome. ( 23256957 )
2005
36
Correlation between genotype, phenotype and sex of rearing in 111 patients with partial androgen insensitivity syndrome. ( 15963062 )
2005
37
Partial androgen insensitivity syndrome with R840H mutation in androgen receptor: report of one case. ( 16302589 )
2005
38
Partial androgen insensitivity syndrome and t(X;5): are there upstream regulatory elements of the androgen receptor gene? ( 15452386 )
2004
39
Mutation of the androgen receptor (R840S) in an Egyptian patient with partial androgen insensitivity syndrome: review of the literature on the clinical expression of different R840 substitutions. ( 15053245 )
2004
40
A new mutation of the androgen receptor, P817A, causing partial androgen insensitivity syndrome: in vitro and structural analysis. ( 15171708 )
2004
41
Acute stress masking the biochemical phenotype of partial androgen insensitivity syndrome in a patient with a novel mutation in the androgen receptor. ( 15001585 )
2004
42
A novel mutation inducing partial androgen-insensitivity syndrome with phenotypic diversity. ( 19125473 )
2003
43
Response to local dihydrotestosterone treatment in a patient with partial androgen-insensitivity syndrome due to a novel mutation in the androgen receptor gene. ( 11807912 )
2002
44
A G577R mutation in the human AR P box results in selective decreases in DNA binding and in partial androgen insensitivity syndrome. ( 11579211 )
2001
45
Phenotypic variation in a family with partial androgen insensitivity syndrome explained by differences in 5alpha dihydrotestosterone availability. ( 11238515 )
2001
46
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. ( 10999818 )
2000
47
A novel point mutation (R840S) in the androgen receptor in a Brazilian family with partial androgen insensitivity syndrome. ( 10502786 )
1999
48
Trafficking of androgen receptor mutants fused to green fluorescent protein: a new investigation of partial androgen insensitivity syndrome. ( 9768671 )
1998
49
Analysis of a mutant androgen receptor offers a treatment modality in a patient with partial androgen insensitivity syndrome. ( 9519369 )
1998
50
Correlation of clinical, endocrine and molecular abnormalities with in vivo responses to high-dose testosterone in patients with partial androgen insensitivity syndrome. ( 9196614 )
1997

Variations for Androgen Insensitivity, Partial

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

76 (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
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

ClinVar genetic disease variations for Androgen Insensitivity, Partial:

6 (show all 34)
# Gene Variation Type Significance SNP ID Assembly Location
1 AR NM_000044.4(AR): c.1174C> T (p.Pro392Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs201934623 GRCh37 Chromosome X, 66766162: 66766162
2 AR NM_000044.4(AR): c.1174C> T (p.Pro392Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs201934623 GRCh38 Chromosome X, 67546320: 67546320
3 AR NM_000044.4(AR): c.2291A> G (p.Tyr764Cys) single nucleotide variant Pathogenic rs137852567 GRCh37 Chromosome X, 66937437: 66937437
4 AR NM_000044.4(AR): c.2291A> G (p.Tyr764Cys) single nucleotide variant Pathogenic rs137852567 GRCh38 Chromosome X, 67717595: 67717595
5 AR NM_000044.4(AR): c.1789G> A (p.Ala597Thr) single nucleotide variant Pathogenic rs137852569 GRCh37 Chromosome X, 66905872: 66905872
6 AR NM_000044.4(AR): c.1789G> A (p.Ala597Thr) single nucleotide variant Pathogenic rs137852569 GRCh38 Chromosome X, 67686030: 67686030
7 AR NM_000044.4(AR): c.1823G> A (p.Arg608Gln) single nucleotide variant Likely pathogenic rs137852573 GRCh37 Chromosome X, 66905906: 66905906
8 AR NM_000044.4(AR): c.1823G> A (p.Arg608Gln) single nucleotide variant Likely pathogenic rs137852573 GRCh38 Chromosome X, 67686064: 67686064
9 AR NM_000044.4(AR): c.2599G> T (p.Val867Leu) single nucleotide variant Pathogenic rs137852564 GRCh37 Chromosome X, 66942818: 66942818
10 AR NM_000044.4(AR): c.2599G> T (p.Val867Leu) single nucleotide variant Pathogenic rs137852564 GRCh38 Chromosome X, 67722976: 67722976
11 AR NM_000044.4(AR): c.2567G> A (p.Arg856His) single nucleotide variant Pathogenic rs9332971 GRCh37 Chromosome X, 66942786: 66942786
12 AR NM_000044.4(AR): c.2567G> A (p.Arg856His) single nucleotide variant Pathogenic rs9332971 GRCh38 Chromosome X, 67722944: 67722944
13 AR NM_000044.4(AR): c.2522G> A (p.Arg841His) single nucleotide variant Pathogenic rs9332969 GRCh37 Chromosome X, 66942741: 66942741
14 AR NM_000044.4(AR): c.2522G> A (p.Arg841His) single nucleotide variant Pathogenic rs9332969 GRCh38 Chromosome X, 67722899: 67722899
15 AR NM_000044.4(AR): c.2521C> T (p.Arg841Cys) single nucleotide variant Pathogenic rs137852577 GRCh37 Chromosome X, 66942740: 66942740
16 AR NM_000044.4(AR): c.2521C> T (p.Arg841Cys) single nucleotide variant Pathogenic rs137852577 GRCh38 Chromosome X, 67722898: 67722898
17 AR NM_000044.4(AR): c.4G> A (p.Glu2Lys) single nucleotide variant Pathogenic rs104894742 GRCh37 Chromosome X, 66764992: 66764992
18 AR NM_000044.4(AR): c.4G> A (p.Glu2Lys) single nucleotide variant Pathogenic rs104894742 GRCh38 Chromosome X, 67545150: 67545150
19 AR AR, IVS2AS, T-A, -11 single nucleotide variant Pathogenic
20 AR NM_000044.4(AR): c.521T> G (p.Leu174Ter) single nucleotide variant Pathogenic rs137852590 GRCh37 Chromosome X, 66765509: 66765509
21 AR NM_000044.4(AR): c.521T> G (p.Leu174Ter) single nucleotide variant Pathogenic rs137852590 GRCh38 Chromosome X, 67545667: 67545667
22 AR NM_000044.4(AR): c.2395C> G (p.Gln799Glu) single nucleotide variant Likely pathogenic rs137852591 GRCh37 Chromosome X, 66941751: 66941751
23 AR NM_000044.4(AR): c.2395C> G (p.Gln799Glu) single nucleotide variant Likely pathogenic rs137852591 GRCh38 Chromosome X, 67721909: 67721909
24 AR NM_000044.4(AR): c.2423T> C (p.Met808Thr) single nucleotide variant Pathogenic rs137852592 GRCh37 Chromosome X, 66941779: 66941779
25 AR NM_000044.4(AR): c.2423T> C (p.Met808Thr) single nucleotide variant Pathogenic rs137852592 GRCh38 Chromosome X, 67721937: 67721937
26 AR AR, IVS6, G-T, +5 single nucleotide variant Pathogenic
27 AR NM_000044.4(AR): c.2231G> T (p.Gly744Val) single nucleotide variant Pathogenic rs137852600 GRCh37 Chromosome X, 66937377: 66937377
28 AR NM_000044.4(AR): c.2231G> T (p.Gly744Val) single nucleotide variant Pathogenic rs137852600 GRCh38 Chromosome X, 67717535: 67717535
29 AR NM_000044.4(AR): c.2222C> G (p.Ser741Cys) single nucleotide variant Pathogenic rs137852601 GRCh37 Chromosome X, 66937368: 66937368
30 AR NM_000044.4(AR): c.2222C> G (p.Ser741Cys) single nucleotide variant Pathogenic rs137852601 GRCh38 Chromosome X, 67717526: 67717526
31 AR NM_000044.4(AR): c.1937C> A (p.Ala646Asp) single nucleotide variant Likely benign rs1800053 GRCh37 Chromosome X, 66931295: 66931295
32 AR NM_000044.4(AR): c.1937C> A (p.Ala646Asp) single nucleotide variant Likely benign rs1800053 GRCh38 Chromosome X, 67711453: 67711453
33 AR NM_000044.4(AR): c.1768+2T> C single nucleotide variant Likely pathogenic rs1555982894 GRCh37 Chromosome X, 66863251: 66863251
34 AR NM_000044.4(AR): c.1768+2T> C single nucleotide variant Likely pathogenic rs1555982894 GRCh38 Chromosome X, 67643409: 67643409

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

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 AR SRD5A1
2 electron transport chain GO:0022900 9.43 CYP19A1 SRD5A1
3 steroid biosynthetic process GO:0006694 9.4 CYP19A1 SRD5A1
4 sex differentiation GO:0007548 9.37 AR SRD5A1
5 androgen metabolic process GO:0008209 9.32 CYP19A1 SRD5A1
6 cellular response to testosterone stimulus GO:0071394 9.26 AR SRD5A1
7 prostate gland growth GO:0060736 9.16 AR CYP19A1
8 female genitalia development GO:0030540 8.96 CYP19A1 SRD5A1
9 androgen catabolic process GO:0006710 8.62 CYP19A1 SRD5A1

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 CYP19A1 SRD5A1
2 steroid binding GO:0005496 8.96 AR SHBG
3 androgen binding GO:0005497 8.62 AR SHBG

Sources for Androgen Insensitivity, Partial

3 CDC
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10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
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31 HGMD
32 HMDB
33 HPO
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35 ICD10 via Orphanet
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45 MeSH
46 MESH via Orphanet
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50 NCI
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55 NINDS
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59 OMIM via Orphanet
63 PubMed
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70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
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75 UMLS via Orphanet
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