MCID: AND020
MIFTS: 51

Androgen Insensitivity, Partial

Categories: Genetic diseases, Rare diseases, Reproductive diseases, Endocrine diseases, Fetal diseases, Cancer 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 pseudohermaphroditism. 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 : 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 145)
# Related Disease Score Top Affiliating Genes
1 androgen insensitivity syndrome 31.2 AR LYVE1 SHBG
2 pseudohermaphroditism 30.2 AR CYP19A1
3 anovulation 29.3 CYP19A1 SHBG
4 alopecia 29.0 AR SHBG
5 impotence 28.8 SHBG SRD5A1
6 gynecomastia 28.6 AR CYP19A1 SHBG
7 polycystic ovary syndrome 28.2 CYP19A1 SHBG
8 prostate cancer 26.2 AR CYP19A1 LYVE1 SHBG SRD5A1
9 x-linked intellectual disability, pai type 11.9
10 cleft, median, of upper lip with polyps of facial skin and nasal mucosa 11.8
11 attention deficit-hyperactivity disorder 11.2
12 multicentric carpotarsal osteolysis syndrome 10.9
13 schizophrenia 10.9
14 kleptomania 10.9
15 dementia 10.9
16 learning disability 10.9
17 47, xxy 10.2 AR SHBG
18 postmenopausal atrophic vaginitis 10.2 AR SHBG
19 gonadal disease 10.1 AR SHBG
20 transsexualism 10.1 AR CYP19A1
21 gender identity disorder 10.1 AR CYP19A1
22 prostatic hyperplasia, benign 10.0 AR CYP19A1
23 prostatic hypertrophy 10.0 AR CYP19A1
24 hypoactive sexual desire disorder 10.0 CYP19A1 SHBG
25 male reproductive organ cancer 10.0 AR SHBG
26 estrogen excess 10.0 CYP19A1 SHBG
27 ductal carcinoma in situ 10.0 AR CYP19A1
28 female reproductive system disease 9.9 CYP19A1 SHBG
29 hyperandrogenism 9.9 CYP19A1 SHBG
30 breast cancer 9.9
31 endocrine gland cancer 9.8 AR CYP19A1
32 penis agenesis 9.8 AR SRD5A1
33 myocardial infarction 9.8
34 retinitis 9.8
35 premature ovarian failure 1 9.7 CYP19A1 SHBG
36 alzheimer disease 9.7
37 arteries, anomalies of 9.7
38 systemic lupus erythematosus 9.7
39 lung cancer 9.7
40 factor xii deficiency 9.7
41 dermatitis, atopic 9.7
42 microvascular complications of diabetes 3 9.7
43 microvascular complications of diabetes 4 9.7
44 microvascular complications of diabetes 6 9.7
45 microvascular complications of diabetes 7 9.7
46 podoconiosis 9.7
47 coronary artery anomaly 9.7
48 heart disease 9.7
49 prostatitis 9.7
50 dermatitis 9.7

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

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, Uterus, Testis

Publications for Androgen Insensitivity, Partial

Articles related to Androgen Insensitivity, Partial:

(show top 50) (show all 57)
# 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
Another Look at Hereditary Partial Androgen Insensitivity Syndrome in an Indigenous Community in the Northern Territory of Australia. ( 29205656 )
2017
4
Heterozygous Nonsense Mutation in the Androgen Receptor Gene Associated with Partial Androgen Insensitivity Syndrome in an Individual with 47,XXY Karyotype. ( 28456808 )
2017
5
Creation of a Neovagina by Laparoscopic Modified Davydov Vaginoplasty in Patients with Partial Androgen Insensitivity Syndrome. ( 28802954 )
2017
6
Re: Topical Dihydrotestosterone to Treat Micropenis Secondary to Partial Androgen Insensitivity Syndrome (PAIS) before, during, and after Puberty-A Case Series. ( 28905769 )
2017
7
The Long Term Outcome Of Boys With Partial Androgen Insensitivity Syndrome And A Mutation In The Androgen Receptor Gene. ( 27403927 )
2016
8
A Novel Mutation In Human Androgen Receptor Gene Causing Partial Androgen Insensitivity Syndrome In A Patient Presenting With Gynecomastia At Puberty. ( 27087292 )
2016
9
Topical dihydrotestosterone to treat micropenis secondary to partial androgen insensitivity syndrome (PAIS) before, during, and after puberty - a case series. ( 26352087 )
2015
10
Invasive Ductal Carcinoma in a 46,XY Partial Androgen Insensitivity Syndrome Patient on Hormone Therapy. ( 26024935 )
2015
11
Partial androgen insensitivity syndrome with persistent mA1llerian remnants. A case report. ( 26242926 )
2015
12
Kennedy's disease and partial androgen insensitivity syndrome. Report of 4 cases and literature review. ( 25857692 )
2015
13
Tamoxifen treatment for pubertal gynecomastia in two siblings with partial androgen insensitivity syndrome. ( 24577144 )
2014
14
Partial Androgen Insensitivity Syndrome Presenting with Gynecomastia. ( 25433660 )
2014
15
Minor hypospadias: the "tip of the iceberg" of the partial androgen insensitivity syndrome. ( 23637914 )
2013
16
Surface rendering of external genitalia of a fetus at the 32nd week of gestation affected by partial androgen insensitivity syndrome. ( 24024055 )
2013
17
Psychosexual outcomes in three siblings with partial androgen insensitivity syndrome: impact of nature versus nurture. ( 23729553 )
2013
18
Male patients with partial androgen insensitivity syndrome: a longitudinal follow-up of growth, reproductive hormones and the development of gynaecomastia. ( 22412043 )
2012
19
Prenatal diagnosis of partial androgen insensitivity syndrome by means of a 4-D ultrasound technique. ( 22260757 )
2012
20
'Idiopathic' partial androgen insensitivity syndrome in 28 newborn and infant males: impact of prenatal exposure to environmental endocrine disruptor chemicals? ( 21788424 )
2011
21
Severe forms of partial androgen insensitivity syndrome due to p.L830F novel mutation in androgen receptor gene in a Brazilian family. ( 21645389 )
2011
22
Isolated micropenis reveals partial androgen insensitivity syndrome confirmed by molecular analysis. ( 20305676 )
2010
23
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
24
Mutational analysis of the androgen receptor gene in two Indian families with partial androgen insensitivity syndrome. ( 20333878 )
2009
25
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
26
Heterozygous mutation of steroidogenic factor-1 in 46,XY subjects may mimic partial androgen insensitivity syndrome. ( 17488792 )
2007
27
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
28
Partial androgen insensitivity syndrome with thermolability in the androgen receptor. ( 16448442 )
2006
29
Partial androgen insensitivity syndrome. ( 23256957 )
2005
30
Correlation between genotype, phenotype and sex of rearing in 111 patients with partial androgen insensitivity syndrome. ( 15963062 )
2005
31
Partial androgen insensitivity syndrome with R840H mutation in androgen receptor: report of one case. ( 16302589 )
2005
32
Partial androgen insensitivity syndrome and t(X;5): are there upstream regulatory elements of the androgen receptor gene? ( 15452386 )
2004
33
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
34
A new mutation of the androgen receptor, P817A, causing partial androgen insensitivity syndrome: in vitro and structural analysis. ( 15171708 )
2004
35
Acute stress masking the biochemical phenotype of partial androgen insensitivity syndrome in a patient with a novel mutation in the androgen receptor. ( 15001585 )
2004
36
A novel mutation inducing partial androgen-insensitivity syndrome with phenotypic diversity. ( 19125473 )
2003
37
A G577R mutation in the human AR P box results in selective decreases in DNA binding and in partial androgen insensitivity syndrome. ( 11579211 )
2001
38
Phenotypic variation in a family with partial androgen insensitivity syndrome explained by differences in 5alpha dihydrotestosterone availability. ( 11238515 )
2001
39
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
40
A novel point mutation (R840S) in the androgen receptor in a Brazilian family with partial androgen insensitivity syndrome. ( 10502786 )
1999
41
Trafficking of androgen receptor mutants fused to green fluorescent protein: a new investigation of partial androgen insensitivity syndrome. ( 9768671 )
1998
42
Analysis of a mutant androgen receptor offers a treatment modality in a patient with partial androgen insensitivity syndrome. ( 9519369 )
1998
43
Correlation of clinical, endocrine and molecular abnormalities with in vivo responses to high-dose testosterone in patients with partial androgen insensitivity syndrome. ( 9196614 )
1997
44
Phenotypic diversity in siblings with partial androgen insensitivity syndrome. ( 9245853 )
1997
45
Reduced expression and normal nucleotide sequence of androgen receptor gene coding and promoter regions in a family with partial androgen insensitivity syndrome. ( 9156036 )
1997
46
Functional analysis of six androgen receptor mutations identified in patients with partial androgen insensitivity syndrome. ( 8824883 )
1996
47
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. ( 8823308 )
1996
48
Molecular prenatal diagnosis of partial androgen insensitivity syndrome based on the Hind III polymorphism of the androgen receptor gene. ( 7910529 )
1994
49
Characterization of mutant androgen receptors causing partial androgen insensitivity syndrome. ( 8126121 )
1994
50
Phenotypic variation and detection of carrier status in the partial androgen insensitivity syndrome. ( 8099270 )
1993

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
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
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 32)
# 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.1174C> T (p.Pro392Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs201934623 GRCh37 Chromosome X, 66766162: 66766162
30 AR NM_000044.4(AR): c.1174C> T (p.Pro392Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs201934623 GRCh38 Chromosome X, 67546320: 67546320
31 AR NM_000044.4(AR): c.1768+2T> C single nucleotide variant Likely pathogenic GRCh37 Chromosome X, 66863251: 66863251
32 AR NM_000044.4(AR): c.1768+2T> C single nucleotide variant Likely pathogenic 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 9.43 AR SRD5A1
2 electron transport chain GO:0022900 9.4 CYP19A1 SRD5A1
3 steroid biosynthetic process GO:0006694 9.37 CYP19A1 SRD5A1
4 sex differentiation GO:0007548 9.32 AR SRD5A1
5 androgen metabolic process GO:0008209 9.26 CYP19A1 SRD5A1
6 cellular response to testosterone stimulus GO:0071394 9.16 AR SRD5A1
7 prostate gland growth GO:0060736 8.96 AR CYP19A1
8 female genitalia development GO:0030540 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

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11 DGIdb
17 ExPASy
19 FMA
28 GO
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32 HPO
33 ICD10
34 ICD10 via Orphanet
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45 MESH via Orphanet
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69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
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