PAIS
MCID: AND020
MIFTS: 53

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 57 75
Partial Androgen Insensitivity Syndrome 53 59 29 6
Reifenstein Syndrome 57 76 75 73
Pais 57 53 59 75
Androgen Insensitivity, Partial, with or Without Breast Cancer 57 53 13
Familial Incomplete Male Pseudohermaphroditism, Type 1 57 75
Androgen Insensitivity Syndrome, Partial 53 29
Syndrome, Insensitivity, Androgen, Partial, with or Without Breast Cancer 40
Androgen Insensitivity Partial with or Without Breast Cancer 75
Androgen Insensitivity Syndrome Partial 55
Androgen Resistance Syndrome, Partial 53
Partial Androgen Resistance Syndrome 59
Reifenstein Syndrome, Partial 53

Characteristics:

Orphanet epidemiological data:

59
partial androgen insensitivity syndrome
Inheritance: X-linked recessive; Age of onset: All ages; Age of death: normal life expectancy;

OMIM:

57
Miscellaneous:
infertility

Inheritance:
x-linked recessive


HPO:

32
androgen insensitivity, partial:
Inheritance x-linked recessive inheritance


Classifications:



External Ids:

OMIM 57 312300
Orphanet 59 ORPHA90797
UMLS via Orphanet 74 C0268301 C0860159
ICD10 via Orphanet 34 E34.5
MedGen 42 C0268301
MeSH 44 D013734
UMLS 73 C0268301

Summaries for Androgen Insensitivity, Partial

NIH Rare Diseases : 53 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 lung, and related phenotypes are osteoporosis and cryptorchidism

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)

UniProtKB/Swiss-Prot : 75 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 : 76 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 252)
# 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 29.9 AR SRD5A1
5 alopecia 29.8 AR SHBG
6 sex differentiation disease 29.8 AR CYP19A1 SHBG
7 stuttering 29.6 CYP19A1 SHBG
8 anovulation 29.4 CYP19A1 SHBG
9 impotence 29.3 SHBG SRD5A1
10 polycystic ovary syndrome 29.2 CYP19A1 SHBG
11 gynecomastia 29.2 AR CYP19A1 SHBG
12 prostate cancer 28.4 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 11.4
17 learning disability 11.3
18 multicentric carpotarsal osteolysis syndrome 11.0
19 schizophrenia 11.0
20 kleptomania 11.0
21 dementia 11.0
22 myocardial infarction 10.1
23 postmenopausal atrophic vaginitis 10.1 AR SHBG
24 sebaceous gland disease 10.1 AR SHBG
25 transsexualism 10.0 AR CYP19A1
26 gender identity disorder 10.0 AR CYP19A1
27 male reproductive organ cancer 10.0 AR SHBG
28 prostatic hypertrophy 10.0 AR CYP19A1
29 male reproductive system disease 10.0 AR SHBG
30 hypoactive sexual desire disorder 10.0 CYP19A1 SHBG
31 estrogen excess 10.0 CYP19A1 SHBG
32 hypogonadism 10.0
33 testicular cancer 10.0 AR SHBG
34 ductal carcinoma in situ 10.0 AR CYP19A1
35 penis agenesis 10.0
36 isolated micropenis 10.0
37 hyperandrogenism 10.0 CYP19A1 SHBG
38 pallister-hall syndrome 10.0
39 heparin-induced thrombocytopenia 10.0
40 pseudovaginal perineoscrotal hypospadias 9.9 AR SRD5A1
41 female reproductive system disease 9.9 CYP19A1 SHBG
42 dumping syndrome 9.9
43 endocrine gland cancer 9.9 AR CYP19A1
44 premature ovarian failure 1 9.9 CYP19A1 SHBG
45 alzheimer disease 9.9
46 arthritis 9.9
47 cataract 9.9
48 hepatitis 9.9
49 cardiac arrest 9.9
50 onchocerciasis 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

Symptoms via clinical synopsis from OMIM:

57
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

Human phenotypes related to Androgen Insensitivity, Partial:

59 32 (show all 16)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 osteoporosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0000939
2 cryptorchidism 59 32 very rare (1%) Very frequent (99-80%) HP:0000028
3 hypospadias 59 32 hallmark (90%) Very frequent (99-80%) HP:0000047
4 gynecomastia 59 32 occasional (7.5%) Occasional (29-5%) HP:0000771
5 female pseudohermaphroditism 59 32 frequent (33%) Frequent (79-30%) HP:0010458
6 infertility 59 32 hallmark (90%) Very frequent (99-80%) HP:0000789
7 bifid scrotum 59 32 hallmark (90%) Very frequent (99-80%) HP:0000048
8 micropenis 59 32 hallmark (90%) Very frequent (99-80%) HP:0000054
9 aplasia of the uterus 59 32 hallmark (90%) Very frequent (99-80%) HP:0000151
10 gonadal neoplasm 59 32 frequent (33%) Frequent (79-30%) HP:0010785
11 hypogonadism 32 HP:0000135
12 azoospermia 32 HP:0000027
13 male pseudohermaphroditism 32 HP:0000037
14 perineal hypospadias 32 very rare (1%) HP:0000051
15 absent vas deferens 32 HP:0012873
16 abnormality of the rib cage 32 HP:0001547

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

26 (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 Androgen Insensitivity Syndrome, Partial 29
2 Partial Androgen Insensitivity Syndrome 29 AR

Anatomical Context for Androgen Insensitivity, Partial

MalaCards organs/tissues related to Androgen Insensitivity, Partial:

41
Breast, Testes, Lung, Skin, Kidney, Heart, Uterus

Publications for Androgen Insensitivity, Partial

Articles related to Androgen Insensitivity, Partial:

(show top 50) (show all 62)
# Title Authors Year
1
Partial androgen insensitivity syndrome caused by a deep intronic mutation creating an alternative splice acceptor site of the AR gene. ( 29396419 )
2018
2
Partial androgen insensitivity syndrome due to somatic mosaicism of the androgen receptor. ( 29267169 )
2018
3
Predicting puberty in partial androgen insensitivity syndrome: Use of clinical and functional androgen receptor indices. ( 30316867 )
2018
4
Long-term healthcare of people with disorders of sex development: Predictors of pubertal outcomes of partial androgen insensitivity syndrome. ( 30337249 )
2018
5
Long-term Healthcare of People with Disorders of Sex Development: Predictors of Pubertal Outcomes of Partial Androgen Insensitivity Syndrome - Authors' Reply. ( 30385230 )
2018
6
Another Look at Hereditary Partial Androgen Insensitivity Syndrome in an Indigenous Community in the Northern Territory of Australia. ( 29205656 )
2017
7
Heterozygous Nonsense Mutation in the Androgen Receptor Gene Associated with Partial Androgen Insensitivity Syndrome in an Individual with 47,XXY Karyotype. ( 28456808 )
2017
8
Creation of a Neovagina by Laparoscopic Modified Davydov Vaginoplasty in Patients with Partial Androgen Insensitivity Syndrome. ( 28802954 )
2017
9
Re: Topical Dihydrotestosterone to Treat Micropenis Secondary to Partial Androgen Insensitivity Syndrome (PAIS) before, during, and after Puberty-A Case Series. ( 28905769 )
2017
10
The Long Term Outcome Of Boys With Partial Androgen Insensitivity Syndrome And A Mutation In The Androgen Receptor Gene. ( 27403927 )
2016
11
A Novel Mutation In Human Androgen Receptor Gene Causing Partial Androgen Insensitivity Syndrome In A Patient Presenting With Gynecomastia At Puberty. ( 27087292 )
2016
12
Topical dihydrotestosterone to treat micropenis secondary to partial androgen insensitivity syndrome (PAIS) before, during, and after puberty - a case series. ( 26352087 )
2015
13
Invasive Ductal Carcinoma in a 46,XY Partial Androgen Insensitivity Syndrome Patient on Hormone Therapy. ( 26024935 )
2015
14
Partial androgen insensitivity syndrome with persistent mA1llerian remnants. A case report. ( 26242926 )
2015
15
Kennedy's disease and partial androgen insensitivity syndrome. Report of 4 cases and literature review. ( 25857692 )
2015
16
Tamoxifen treatment for pubertal gynecomastia in two siblings with partial androgen insensitivity syndrome. ( 24577144 )
2014
17
Partial Androgen Insensitivity Syndrome Presenting with Gynecomastia. ( 25433660 )
2014
18
Minor hypospadias: the "tip of the iceberg" of the partial androgen insensitivity syndrome. ( 23637914 )
2013
19
Surface rendering of external genitalia of a fetus at the 32nd week of gestation affected by partial androgen insensitivity syndrome. ( 24024055 )
2013
20
Psychosexual outcomes in three siblings with partial androgen insensitivity syndrome: impact of nature versus nurture. ( 23729553 )
2013
21
Male patients with partial androgen insensitivity syndrome: a longitudinal follow-up of growth, reproductive hormones and the development of gynaecomastia. ( 22412043 )
2012
22
Prenatal diagnosis of partial androgen insensitivity syndrome by means of a 4-D ultrasound technique. ( 22260757 )
2012
23
'Idiopathic' partial androgen insensitivity syndrome in 28 newborn and infant males: impact of prenatal exposure to environmental endocrine disruptor chemicals? ( 21788424 )
2011
24
Severe forms of partial androgen insensitivity syndrome due to p.L830F novel mutation in androgen receptor gene in a Brazilian family. ( 21645389 )
2011
25
Partial androgen insensitivity syndrome: a diagnostic and therapeutic dilemma. ( 27365856 )
2011
26
Isolated micropenis reveals partial androgen insensitivity syndrome confirmed by molecular analysis. ( 20305676 )
2010
27
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
28
Mutational analysis of the androgen receptor gene in two Indian families with partial androgen insensitivity syndrome. ( 20333878 )
2009
29
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
30
Heterozygous mutation of steroidogenic factor-1 in 46,XY subjects may mimic partial androgen insensitivity syndrome. ( 17488792 )
2007
31
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
32
Partial androgen insensitivity syndrome with thermolability in the androgen receptor. ( 16448442 )
2006
33
Partial androgen insensitivity syndrome. ( 23256957 )
2005
34
Correlation between genotype, phenotype and sex of rearing in 111 patients with partial androgen insensitivity syndrome. ( 15963062 )
2005
35
Partial androgen insensitivity syndrome with R840H mutation in androgen receptor: report of one case. ( 16302589 )
2005
36
Partial androgen insensitivity syndrome and t(X;5): are there upstream regulatory elements of the androgen receptor gene? ( 15452386 )
2004
37
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
38
A new mutation of the androgen receptor, P817A, causing partial androgen insensitivity syndrome: in vitro and structural analysis. ( 15171708 )
2004
39
Acute stress masking the biochemical phenotype of partial androgen insensitivity syndrome in a patient with a novel mutation in the androgen receptor. ( 15001585 )
2004
40
A novel mutation inducing partial androgen-insensitivity syndrome with phenotypic diversity. ( 19125473 )
2003
41
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
42
A G577R mutation in the human AR P box results in selective decreases in DNA binding and in partial androgen insensitivity syndrome. ( 11579211 )
2001
43
Phenotypic variation in a family with partial androgen insensitivity syndrome explained by differences in 5alpha dihydrotestosterone availability. ( 11238515 )
2001
44
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
45
A novel point mutation (R840S) in the androgen receptor in a Brazilian family with partial androgen insensitivity syndrome. ( 10502786 )
1999
46
Trafficking of androgen receptor mutants fused to green fluorescent protein: a new investigation of partial androgen insensitivity syndrome. ( 9768671 )
1998
47
Analysis of a mutant androgen receptor offers a treatment modality in a patient with partial androgen insensitivity syndrome. ( 9519369 )
1998
48
Correlation of clinical, endocrine and molecular abnormalities with in vivo responses to high-dose testosterone in patients with partial androgen insensitivity syndrome. ( 9196614 )
1997
49
Phenotypic diversity in siblings with partial androgen insensitivity syndrome. ( 9245853 )
1997
50
Reduced expression and normal nucleotide sequence of androgen receptor gene coding and promoter regions in a family with partial androgen insensitivity syndrome. ( 9156036 )
1997

Variations for Androgen Insensitivity, Partial

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

75 (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.2291A> G (p.Tyr764Cys) single nucleotide variant Pathogenic rs137852567 GRCh37 Chromosome X, 66937437: 66937437
2 AR NM_000044.4(AR): c.2291A> G (p.Tyr764Cys) single nucleotide variant Pathogenic rs137852567 GRCh38 Chromosome X, 67717595: 67717595
3 AR NM_000044.4(AR): c.1789G> A (p.Ala597Thr) single nucleotide variant Pathogenic rs137852569 GRCh37 Chromosome X, 66905872: 66905872
4 AR NM_000044.4(AR): c.1789G> A (p.Ala597Thr) single nucleotide variant Pathogenic rs137852569 GRCh38 Chromosome X, 67686030: 67686030
5 AR NM_000044.4(AR): c.1823G> A (p.Arg608Gln) single nucleotide variant Likely pathogenic rs137852573 GRCh37 Chromosome X, 66905906: 66905906
6 AR NM_000044.4(AR): c.1823G> A (p.Arg608Gln) single nucleotide variant Likely pathogenic rs137852573 GRCh38 Chromosome X, 67686064: 67686064
7 AR NM_000044.4(AR): c.2599G> T (p.Val867Leu) single nucleotide variant Pathogenic rs137852564 GRCh37 Chromosome X, 66942818: 66942818
8 AR NM_000044.4(AR): c.2599G> T (p.Val867Leu) single nucleotide variant Pathogenic rs137852564 GRCh38 Chromosome X, 67722976: 67722976
9 AR NM_000044.4(AR): c.2567G> A (p.Arg856His) single nucleotide variant Pathogenic rs9332971 GRCh37 Chromosome X, 66942786: 66942786
10 AR NM_000044.4(AR): c.2567G> A (p.Arg856His) single nucleotide variant Pathogenic rs9332971 GRCh38 Chromosome X, 67722944: 67722944
11 AR NM_000044.4(AR): c.2522G> A (p.Arg841His) single nucleotide variant Pathogenic rs9332969 GRCh37 Chromosome X, 66942741: 66942741
12 AR NM_000044.4(AR): c.2522G> A (p.Arg841His) single nucleotide variant Pathogenic rs9332969 GRCh38 Chromosome X, 67722899: 67722899
13 AR NM_000044.4(AR): c.2521C> T (p.Arg841Cys) single nucleotide variant Pathogenic rs137852577 GRCh37 Chromosome X, 66942740: 66942740
14 AR NM_000044.4(AR): c.2521C> T (p.Arg841Cys) single nucleotide variant Pathogenic rs137852577 GRCh38 Chromosome X, 67722898: 67722898
15 AR NM_000044.4(AR): c.4G> A (p.Glu2Lys) single nucleotide variant Pathogenic rs104894742 GRCh37 Chromosome X, 66764992: 66764992
16 AR NM_000044.4(AR): c.4G> A (p.Glu2Lys) single nucleotide variant Pathogenic rs104894742 GRCh38 Chromosome X, 67545150: 67545150
17 AR AR, IVS2AS, T-A, -11 single nucleotide variant Pathogenic
18 AR NM_000044.4(AR): c.521T> G (p.Leu174Ter) single nucleotide variant Pathogenic rs137852590 GRCh37 Chromosome X, 66765509: 66765509
19 AR NM_000044.4(AR): c.521T> G (p.Leu174Ter) single nucleotide variant Pathogenic rs137852590 GRCh38 Chromosome X, 67545667: 67545667
20 AR NM_000044.4(AR): c.2395C> G (p.Gln799Glu) single nucleotide variant Likely pathogenic rs137852591 GRCh37 Chromosome X, 66941751: 66941751
21 AR NM_000044.4(AR): c.2395C> G (p.Gln799Glu) single nucleotide variant Likely pathogenic rs137852591 GRCh38 Chromosome X, 67721909: 67721909
22 AR NM_000044.4(AR): c.2423T> C (p.Met808Thr) single nucleotide variant Pathogenic rs137852592 GRCh37 Chromosome X, 66941779: 66941779
23 AR NM_000044.4(AR): c.2423T> C (p.Met808Thr) single nucleotide variant Pathogenic rs137852592 GRCh38 Chromosome X, 67721937: 67721937
24 AR AR, IVS6, G-T, +5 single nucleotide variant Pathogenic
25 AR NM_000044.4(AR): c.2231G> T (p.Gly744Val) single nucleotide variant Pathogenic rs137852600 GRCh37 Chromosome X, 66937377: 66937377
26 AR NM_000044.4(AR): c.2231G> T (p.Gly744Val) single nucleotide variant Pathogenic rs137852600 GRCh38 Chromosome X, 67717535: 67717535
27 AR NM_000044.4(AR): c.2222C> G (p.Ser741Cys) single nucleotide variant Pathogenic rs137852601 GRCh37 Chromosome X, 66937368: 66937368
28 AR NM_000044.4(AR): c.2222C> G (p.Ser741Cys) single nucleotide variant Pathogenic rs137852601 GRCh38 Chromosome X, 67717526: 67717526
29 AR NM_000044.4(AR): c.1937C> A (p.Ala646Asp) single nucleotide variant Likely benign rs1800053 GRCh37 Chromosome X, 66931295: 66931295
30 AR NM_000044.4(AR): c.1937C> A (p.Ala646Asp) single nucleotide variant Likely benign rs1800053 GRCh38 Chromosome X, 67711453: 67711453
31 AR NM_000044.4(AR): c.1174C> T (p.Pro392Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs201934623 GRCh37 Chromosome X, 66766162: 66766162
32 AR NM_000044.4(AR): c.1174C> T (p.Pro392Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs201934623 GRCh38 Chromosome X, 67546320: 67546320
33 AR NM_000044.4(AR): c.1768+2T> C single nucleotide variant Likely pathogenic GRCh38 Chromosome X, 67643409: 67643409
34 AR NM_000044.4(AR): c.1768+2T> C single nucleotide variant Likely pathogenic GRCh37 Chromosome X, 66863251: 66863251

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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11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
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36 IUPHAR
37 KEGG
38 LifeMap
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42 MedGen
44 MeSH
45 MESH via Orphanet
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49 NCI
50 NCIt
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54 NINDS
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57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
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74 UMLS via Orphanet
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