MCID: AND010
MIFTS: 43

Androgen Insensitivity, Partial, with or Without Breast Cancer

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

Aliases & Classifications for Androgen Insensitivity, Partial, with or Without Breast Cancer

MalaCards integrated aliases for Androgen Insensitivity, Partial, with or Without Breast Cancer:

Name: Androgen Insensitivity, Partial, with or Without Breast Cancer 54 50 13
Partial Androgen Insensitivity Syndrome 50 24 56 29
Pais 50 24 56 71
Incomplete Testicular Feminization Syndrome 24 69
Androgen Insensitivity Syndrome, Partial 50 29
Reifenstein Syndrome 71 69
Androgen Insensitivity Partial with or Without Breast Cancer 71
Incomplete Androgen Insensitivity Syndrome 24
Androgen Insensitivity Syndrome Partial 52
Androgen Resistance Syndrome, Partial 50
Partial Androgen Resistance Syndrome 56
Androgen Insensitivity, Partial 71
Reifenstein Syndrome, Partial 50

Characteristics:

Orphanet epidemiological data:

56
partial androgen insensitivity syndrome
Inheritance: X-linked recessive; Age of onset: All ages; Age of death: normal life expectancy;

OMIM:

54
Miscellaneous:
infertility

Inheritance:
x-linked recessive


HPO:

32
androgen insensitivity, partial, with or without breast cancer:
Inheritance x-linked recessive inheritance


Classifications:



Summaries for Androgen Insensitivity, Partial, with or Without Breast Cancer

NIH Rare Diseases : 50 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. last updated: 10/16/2013

MalaCards based summary : Androgen Insensitivity, Partial, with or Without Breast Cancer, also known as partial androgen insensitivity syndrome, is related to x-linked intellectual disability, pai type and cleft, median, of upper lip with polyps of facial skin and nasal mucosa, and has symptoms including micropenis, hypospadias and osteoporosis. An important gene associated with Androgen Insensitivity, Partial, with or Without Breast Cancer 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 testis, and related phenotype is Increased shRNA abundance (Z-score > 2).

UniProtKB/Swiss-Prot : 71 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.

OMIM : 54
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)

Wikipedia : 72 Partial androgen insensitivity syndrome (PAIS) is a condition that results in the partial inability of... more...

Related Diseases for Androgen Insensitivity, Partial, with or Without Breast Cancer

Diseases related to Androgen Insensitivity, Partial, with or Without Breast Cancer via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 42)
id Related Disease Score Top Affiliating Genes
1 x-linked intellectual disability, pai type 11.8
2 cleft, median, of upper lip with polyps of facial skin and nasal mucosa 11.5
3 androgen insensitivity 10.7
4 ulceroglandular tularemia 10.2 AR SHBG
5 vaginal discharge 10.2 AR SHBG
6 capillary lymphangioma 10.2 AR SHBG
7 gastrojejunal ulcer 10.1 AR CYP19A1
8 osteogenesis imperfecta 10.1 AR CYP19A1
9 medullomyoblastoma 10.1 AR SHBG
10 esophagus sarcoma 10.1 AR CYP19A1
11 intraventricular meningioma 10.1 AR CYP19A1
12 polyneuropathy 10.1 CYP19A1 SHBG
13 nipple neoplasm 10.1 AR SHBG
14 gynecomastia 10.0
15 acute thyroiditis 10.0 CYP19A1 SHBG
16 porokeratosis 10.0 CYP19A1 SHBG
17 spondylolysis 10.0 CYP19A1 SHBG
18 pelvic muscle wasting 10.0 CYP19A1 SHBG
19 benign shuddering attacks 10.0 AR CYP19A1
20 pepck 1 deficiency 9.9 AR SRD5A1
21 amelogenesis imperfecta 9.9 AR SHBG
22 adrenoleukodystrophy 9.9 CYP19A1 SHBG
23 isolated micropenis 9.8
24 hypospadias 9.8
25 hypogonadism 9.8
26 pseudopterygium 9.8 CYP19A1 SHBG
27 viral hepatitis 9.8 SHBG SRD5A1
28 glioblastoma proneural subtype 9.7 AR CYP19A1 SHBG
29 sphingolipidosis 9.6 AR CYP19A1 SHBG
30 capillary disease 9.6 AR CYP19A1 SHBG
31 avoidant personality disorder 9.6 AR CYP19A1 SHBG
32 diabetes mellitus, insulin-resistant, with acanthosis nigricans 9.6 AR SHBG
33 chylomicron retention disease 9.6 AR CYP19A1 SHBG
34 tooth disease 9.5 AR SRD5A1
35 endometriosis 9.5 AR SHBG SRD5A1
36 lethal congenital contracture syndrome 10 9.4 AR CYP19A1 SHBG
37 infratentorial cancer 9.3 AR CYP19A1 SRD5A1
38 precursor b lymphoblastic lymphoma/leukemia 9.3 CYP19A1 SHBG SRD5A1
39 condrodisplasia punctata rizomélica 9.1 AR CYP19A1 LYVE1 SHBG
40 epilepsy, idiopathic generalized 11 8.8 AR CYP19A1 SHBG SRD5A1
41 osteopathia striata with cranial sclerosis 8.3 AR CYP19A1 LYVE1 SHBG SRD5A1
42 prostate cancer 8.3 AR CYP19A1 LYVE1 SHBG SRD5A1

Graphical network of the top 20 diseases related to Androgen Insensitivity, Partial, with or Without Breast Cancer:



Diseases related to Androgen Insensitivity, Partial, with or Without Breast Cancer

Symptoms & Phenotypes for Androgen Insensitivity, Partial, with or Without Breast Cancer

Symptoms via clinical synopsis from OMIM:

54

Genitourinary- External Genitalia Male:
micropenis
hypospadias
bifid scrotum

Chest- Breasts:
gynecomastia

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

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

Laboratory- Abnormalities:
normal 46,xy karyotype
oligospermia or azoospermia


Clinical features from OMIM:

312300

Human phenotypes related to Androgen Insensitivity, Partial, with or Without Breast Cancer:

56 32 (show all 15)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 micropenis 56 32 hallmark (90%) Very frequent (99-80%) HP:0000054
2 hypospadias 56 32 hallmark (90%) Very frequent (99-80%) HP:0000047
3 osteoporosis 56 32 occasional (7.5%) Occasional (29-5%) HP:0000939
4 cryptorchidism 56 32 hallmark (90%) Very frequent (99-80%) HP:0000028
5 infertility 56 32 hallmark (90%) Very frequent (99-80%) HP:0000789
6 bifid scrotum 56 32 hallmark (90%) Very frequent (99-80%) HP:0000048
7 gynecomastia 56 32 occasional (7.5%) Occasional (29-5%) HP:0000771
8 female pseudohermaphroditism 56 32 frequent (33%) Frequent (79-30%) HP:0010458
9 aplasia of the uterus 56 32 hallmark (90%) Very frequent (99-80%) HP:0000151
10 gonadal neoplasm 56 32 frequent (33%) Frequent (79-30%) HP:0010785
11 azoospermia 32 HP:0000027
12 hypogonadism 32 HP:0000135
13 male pseudohermaphroditism 32 HP:0000037
14 absent vas deferens 32 HP:0012873
15 abnormality of the rib cage 32 HP:0001547

GenomeRNAi Phenotypes related to Androgen Insensitivity, Partial, with or Without Breast Cancer according to GeneCards Suite gene sharing:

26
id 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, with or Without Breast Cancer

Search Clinical Trials , NIH Clinical Center for Androgen Insensitivity, Partial, with or Without Breast Cancer

Genetic Tests for Androgen Insensitivity, Partial, with or Without Breast Cancer

Genetic tests related to Androgen Insensitivity, Partial, with or Without Breast Cancer:

id Genetic test Affiliating Genes
1 Androgen Insensitivity Syndrome, Partial 29
2 Partial Androgen Insensitivity Syndrome 29 24 AR

Anatomical Context for Androgen Insensitivity, Partial, with or Without Breast Cancer

MalaCards organs/tissues related to Androgen Insensitivity, Partial, with or Without Breast Cancer:

39
Breast, Testes, Testis, Uterus

Publications for Androgen Insensitivity, Partial, with or Without Breast Cancer

Variations for Androgen Insensitivity, Partial, with or Without Breast Cancer

UniProtKB/Swiss-Prot genetic disease variations for Androgen Insensitivity, Partial, with or Without Breast Cancer:

71 (show top 50) (show all 60)
id 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
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, with or Without Breast Cancer:

6 (show all 16)
id 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.1789G> A (p.Ala597Thr) single nucleotide variant Pathogenic rs137852569 GRCh37 Chromosome X, 66905872: 66905872
3 AR NM_000044.4(AR): c.1823G> A (p.Arg608Gln) single nucleotide variant Pathogenic/Likely pathogenic rs137852573 GRCh37 Chromosome X, 66905906: 66905906
4 AR NM_000044.4(AR): c.2599G> T (p.Val867Leu) single nucleotide variant Pathogenic rs137852564 GRCh37 Chromosome X, 66942818: 66942818
5 AR NM_000044.4(AR): c.2567G> A (p.Arg856His) single nucleotide variant Pathogenic rs9332971 GRCh37 Chromosome X, 66942786: 66942786
6 AR NM_000044.4(AR): c.2522G> A (p.Arg841His) single nucleotide variant Pathogenic rs9332969 GRCh37 Chromosome X, 66942741: 66942741
7 AR NM_000044.4(AR): c.2521C> T (p.Arg841Cys) single nucleotide variant Pathogenic rs137852577 GRCh37 Chromosome X, 66942740: 66942740
8 AR NM_000044.4(AR): c.4G> A (p.Glu2Lys) single nucleotide variant Pathogenic rs104894742 GRCh37 Chromosome X, 66764992: 66764992
9 AR AR, IVS2AS, T-A, -11 single nucleotide variant Pathogenic
10 AR NM_000044.4(AR): c.521T> G (p.Leu174Ter) single nucleotide variant Pathogenic rs137852590 GRCh37 Chromosome X, 66765509: 66765509
11 AR NM_000044.4(AR): c.2395C> G (p.Gln799Glu) single nucleotide variant Pathogenic/Likely pathogenic rs137852591 GRCh37 Chromosome X, 66941751: 66941751
12 AR NM_000044.4(AR): c.2423T> C (p.Met808Thr) single nucleotide variant Pathogenic rs137852592 GRCh37 Chromosome X, 66941779: 66941779
13 AR AR, IVS6, G-T, +5 single nucleotide variant Pathogenic
14 AR NM_000044.4(AR): c.2231G> T (p.Gly744Val) single nucleotide variant Pathogenic rs137852600 GRCh37 Chromosome X, 66937377: 66937377
15 AR NM_000044.4(AR): c.2222C> G (p.Ser741Cys) single nucleotide variant Pathogenic rs137852601 GRCh37 Chromosome X, 66937368: 66937368
16 AR NM_000044.4(AR): c.1937C> A (p.Ala646Asp) single nucleotide variant Pathogenic rs1800053 GRCh37 Chromosome X, 66931295: 66931295

Expression for Androgen Insensitivity, Partial, with or Without Breast Cancer

Search GEO for disease gene expression data for Androgen Insensitivity, Partial, with or Without Breast Cancer.

Pathways for Androgen Insensitivity, Partial, with or Without Breast Cancer

GO Terms for Androgen Insensitivity, Partial, with or Without Breast Cancer

Biological processes related to Androgen Insensitivity, Partial, with or Without Breast Cancer according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 male gonad development GO:0008584 9.4 AR SRD5A1
2 steroid biosynthetic process GO:0006694 9.37 CYP19A1 SRD5A1
3 sex differentiation GO:0007548 9.32 AR SRD5A1
4 androgen metabolic process GO:0008209 9.26 CYP19A1 SRD5A1
5 cellular response to testosterone stimulus GO:0071394 9.16 AR SRD5A1
6 prostate gland growth GO:0060736 8.96 AR CYP19A1
7 female genitalia development GO:0030540 8.62 CYP19A1 SRD5A1

Molecular functions related to Androgen Insensitivity, Partial, with or Without Breast Cancer according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 electron carrier 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, with or Without Breast Cancer

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