eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| androgen insensitivity syndrome | ||||
| Disease ID | 83 |
|---|---|
| Disease | androgen insensitivity syndrome |
| Definition | A disorder of sexual development transmitted as an X-linked recessive trait. These patients have a karyotype of 46,XY with end-organ resistance to androgen due to mutations in the androgen receptor (RECEPTORS, ANDROGEN) gene. Severity of the defect in receptor quantity or quality correlates with their phenotypes. In these genetic males, the phenotypic spectrum ranges from those with normal female external genitalia, through those with genital ambiguity as in Reifenstein Syndrome, to that of a normal male with INFERTILITY. |
| Synonym | ais androgen insensitivity syndromes androgen insensitvty syn androgen receptor deficiency androgen resistance syndrome androgen resistance syndrome (disorder) androgen resistance syndrome, nos androgen resistance syndromes androgen-insensitivity syndrome androgen-insensitivity syndrome [disease/finding] androgen-insensitivity syndromes ar deficiency dhtr deficiency dihydrotestosterone receptor deficiency insensitivity syndrome, androgen insensitivity syndromes, androgen male pseudohermaphroditism due to androgen insensitivity resistance syndrome, androgen resistance syndromes, androgen testicular feminization syndrome tfm |
| Orphanet | |
| OMIM | |
| DOID | |
| UMLS | C0039585 |
| MeSH | |
| SNOMED-CT | |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:13) C0039585 | androgen insensitivity syndrome | 14 C0314719 | dry eye | 5 C0039585 | testicular feminization syndrome | 1 C0155223 | dacryoadenitis | 1 C0021364 | male infertility | 1 C0001403 | addison's disease | 1 C0206723 | sertoli-leydig cell tumor | 1 C0007789 | cerebral palsy | 1 C0023601 | leydig cell tumor | 1 C0019294 | inguinal hernia | 1 C0036631 | seminoma | 1 C0271623 | gonadotropin deficiency | 1 C0021359 | infertility | 1 |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:1) |
| Inferring Gene | Entrez_id | Symbol | Resource(Total Genes:1) |
| Text Mined Gene | Entrez_id | Symbol | Score | Resource(Total Genes:46) 1646 | AKR1C2 | 1.012 | DISEASES 265 | AMELX | 1.055 | DISEASES 196527 | ANO6 | 1.253 | DISEASES 347 | APOD | 2.687 | DISEASES 367 | AR | 7.515 | DISEASES 369 | ARAF | 2.467 | DISEASES 1066 | CES1 | 1.133 | DISEASES 221223 | CES5A | 2.425 | DISEASES 1506 | CTRL | 1.652 | DISEASES 1586 | CYP17A1 | 2.415 | DISEASES 1589 | CYP21A2 | 2.342 | DISEASES 1629 | DBT | 2.578 | DISEASES 1743 | DLST | 2.498 | DISEASES 2053 | EPHX2 | 1.119 | DISEASES 2100 | ESR2 | 1.137 | DISEASES 93986 | FOXP2 | 1.121 | DISEASES 199720 | GGN | 3.144 | DISEASES 3035 | HARS | 2.814 | DISEASES 3293 | HSD17B3 | 4.974 | DISEASES 3283 | HSD3B1 | 2.046 | DISEASES 3428 | IFI16 | 1.542 | DISEASES 8518 | IKBKAP | 1.362 | DISEASES 3640 | INSL3 | 1.243 | DISEASES 7403 | KDM6A | 1.166 | DISEASES 10046 | MAMLD1 | 1.732 | DISEASES 58526 | MID1IP1 | 3.593 | DISEASES 8648 | NCOA1 | 1.25 | DISEASES 10499 | NCOA2 | 3.69 | DISEASES 190 | NR0B1 | 1.564 | DISEASES 8856 | NR1I2 | 3.541 | DISEASES 2516 | NR5A1 | 2.991 | DISEASES 5256 | PHKA2 | 1.597 | DISEASES 10401 | PIAS3 | 1.537 | DISEASES 473 | RERE | 1.953 | DISEASES 6277 | S100A6 | 1.673 | DISEASES 866 | SERPINA6 | 1.054 | DISEASES 6418 | SET | 1.529 | DISEASES 6462 | SHBG | 3.397 | DISEASES 6736 | SRY | 4.733 | DISEASES 6942 | TCF20 | 1.748 | DISEASES 7033 | TFF3 | 1.66 | DISEASES 7110 | TMF1 | 1.647 | DISEASES 7258 | TSPY1 | 2.949 | DISEASES 100289087 | TSPY10 | 2.985 | DISEASES 8409 | UXT | 2.541 | DISEASES 7490 | WT1 | 1.373 | DISEASES |
| Locus | (Waiting for update.) |
| Disease ID | 83 |
|---|---|
| Disease | androgen insensitivity syndrome |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:15) HP:0000028 | Cryptorchidism HP:0000037 | Male pseudohermaphroditism HP:0000130 | Abnormality of the uterus HP:0000033 | Ambiguous genitalia, male HP:0010788 | Testicular neoplasm HP:0002215 | Sparse axillary hair HP:0002555 | Absent pubic hair HP:0008655 | Aplasia/Hypoplasia of the fallopian tube HP:0002221 | Absent axillary hair HP:0003251 | Male infertility HP:0000823 | Delayed puberty HP:0008684 | Aplasia/hypoplasia of the uterus HP:0000008 | Abnormality of female internal genitalia HP:0000023 | Inguinal hernia HP:0002225 | Sparse pubic hair |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:14) HP:0000689 | Misalignment of upper and lower dental arches | 7 HP:0000023 | Inguinal hernia | 1 HP:0100699 | Scarring | 1 HP:0100021 | Cerebral palsy | 1 HP:0002781 | Upper airway obstruction | 1 HP:0008213 | Pituitary gonadotropin deficiency | 1 HP:0000789 | Infertility | 1 HP:0003251 | Male infertility | 1 HP:0000047 | Hypospadias | 1 HP:0001373 | Joint dislocations | 1 HP:0000062 | Ambiguous external genitalia | 1 HP:0003287 | Abnormality of mitochondrial metabolism | 1 HP:0008207 | Addison's disease | 1 HP:0002664 | Neoplasia | 1 |
| Disease ID | 83 |
|---|---|
| Disease | androgen insensitivity syndrome |
| Manually Symptom | UMLS | Name(Total Manually Symptoms:8) |
| Text Mined Symptom | (Waiting for update.) |
Manually Genotype(Total Manually Genotypes:2) | |||
|---|---|---|---|
| Gene | Mutation | DOI | Article Title |
| AR | NM_000044.3: c.1937C>A, p.(Ala646Asp) | doi:10.1038/gim.2016.153 | A comprehensive strategy for exome-based preconception carrier screening |
| AR | - | doi:10.1038/gim.2015.51 | Clinical performance of the CytoScan Dx Assay in diagnosing developmental delay/intellectual disability |
Text Mining Genotype(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
All Snps(Total Genotypes:10) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs137852577 | NA | 367 | AR | umls:C0039585 | CLINVAR | NA | 0.541871118 | NA | AR | X | 67722898 | C | T |
| rs137852587 | 16118342 | 367 | AR | umls:C0039585 | BeFree | Another mutation (AR-F582Y) was found in a partial AIS patient (subject 2). | 0.541871118 | 2005 | AR | X | 67643387 | T | A |
| rs137852594 | NA | 367 | AR | umls:C0039585 | CLINVAR | NA | 0.541871118 | NA | AR | X | 67723745 | C | T |
| rs137852595 | NA | 367 | AR | umls:C0039585 | CLINVAR | NA | 0.541871118 | NA | AR | X | 67711653 | C | T |
| rs137852596 | NA | 367 | AR | umls:C0039585 | CLINVAR | NA | 0.541871118 | NA | AR | X | 67643371 | G | A |
| rs137852597 | NA | 367 | AR | umls:C0039585 | CLINVAR | NA | 0.541871118 | NA | AR | X | 67722973 | T | C |
| rs137852598 | NA | 367 | AR | umls:C0039585 | CLINVAR | NA | 0.541871118 | NA | AR | X | 67722948 | C | G,T |
| rs139524801 | 17970778 | 367 | AR | umls:C0039585 | BeFree | To this aim, we selected four AR missense mutations associated with isolated male infertility (L547F and two novel mutations A474V and S650G) or partial AIS (Y571H). | 0.541871118 | 2008 | AR | X | 67643283 | G | T |
| rs143040492 | 12006704 | 367 | AR | umls:C0039585 | BeFree | As AR missense mutations changing alanine 870 to valine have been previously described in 3 unrelated patients showing severe AIS phenotypes, we conclude that phenotypic heterogeneity associated to identical mutations in the AR gene is probably due to individual functional differences in AR coregulator molecules. | 0.541871118 | 2002 | AR | X | 67723690 | C | T |
| rs200390780 | 17970778 | 367 | AR | umls:C0039585 | BeFree | To this aim, we selected four AR missense mutations associated with isolated male infertility (L547F and two novel mutations A474V and S650G) or partial AIS (Y571H). | 0.541871118 | 2008 | AR | X | 67546570 | C | T |
GWASdb Annotation(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
GWASdb Snp Trait(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
Mapped by lexical matching(Total Items:9) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0002555 | Absent pubic hair | MP:0004404 | cochlear outer hair cell degeneration | degeneration or loss of the columnar outer hair sensory cells of the organ of Corti |
| HP:0002215 | Sparse axillary hair | MP:0004396 | decreased cochlear inner hair cell number | decreased number (or less than the expected single row) of the flask-shaped inner hair sensory cells of the organ of Corti |
| HP:0003251 | Male infertility | MP:0001924 | infertility | inability to produce live offspring |
| HP:0002225 | Sparse pubic hair | MP:0009575 | abnormal pubic symphysis morphology | any structural anomaly of the firm fibrocartilaginous joint in the median plane between the two opposing surfaces of the pubic bones, which are united by an interpubic disc of fibrocartilage as well as the superior and arcuate pubic ligaments |
| HP:0000023 | Inguinal hernia | MP:0010146 | umbilical hernia | an outward bulging (protrusion) of the abdominal lining or part of the abdominal organ(s) through the area around the umbilicus; occurs when the muscle through which blood vessels pass to feed the developing fetus fails to completely close |
| HP:0002221 | Absent axillary hair | MP:0010685 | abnormal hair follicle inner root sheath morphology | any structural anomaly of the multilayered tube composed of terminally differentiated hair follicle keratinocytes that is surrounded by the outer root sheath; the layers of the inner root sheath include the companion layer, Henle's layer, Huxley's layer a |
| HP:0000130 | Abnormality of the uterus | MP:0011665 | d-loop transposition of the great arteries | complete transposition of the great arteries; the d- refers to the dextroposition of the bulboventricular loop (ie, the position of the right ventricle, which is on the right side); in addition, the aorta also tends to be on the right and anterior, and th |
| HP:0000008 | Abnormality of female internal genitalia | MP:0009403 | increased variability of skeletal muscle fiber size | greater range or dispersion within a distribution of skeletal muscle fiber size within a muscle compared to controls |
| HP:0000033 | Ambiguous genitalia, male | MP:0001925 | male infertility | inability of male to produce live offspring |
Mapped by homologous gene(Total Items:14) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0002225 | Sparse pubic hair | MP:0014198 | absent pituitary infundibular stalk | absence of the apical portion of the tubular structure extending from the hypothalamus to the posterior lobe of the pituitary gland |
| HP:0000033 | Ambiguous genitalia, male | MP:0013600 | testis degeneration | a retrogressive impairment of function or destruction of either or both of the male reproductive glands |
| HP:0002555 | Absent pubic hair | MP:0013378 | increased sebocyte number | greater than expected number of the highly specialized, sebum-producing epithelial cells of the sebaceous glands that release their content by rupture of the cell membrane and cellular degradation |
| HP:0002221 | Absent axillary hair | MP:0014169 | decreased brown adipose tissue mass | decreased physical bulk or volume of brown adipose tissue |
| HP:0003251 | Male infertility | MP:0014233 | bile duct epithelium hyperplasia | |
| HP:0000130 | Abnormality of the uterus | MP:0013508 | increased granulosa cell apoptosis | increase in the timing or the number of granulsa cells undergoing programmed cell death |
| HP:0000023 | Inguinal hernia | MP:0020321 | increased vascular endothelial cell apoptosis | increase in the timing or the number of vascular endothelial cells undergoing programmed cell death |
| HP:0000028 | Cryptorchidism | MP:3000003 | abnormal Ebner's gland morphology | any structural anomaly of the serous salivary glands which reside adjacent to the moats surrounding the circumvallate and foliate papillae just anterior to the posterior third of the tongue, anterior to the terminal sulcus; these exocrine glands secrete l |
| HP:0000823 | Delayed puberty | MP:0020087 | increased susceptibility to non-insulin-dependent diabetes | increased likelihood to develop non-insulin-dependent diabetes |
| HP:0010788 | Testicular neoplasm | MP:0013604 | abnormal adult Leydig cell differentiation | atypical formation of or inability to produce the second or adult population of Leydig cells (ALCs) between birth and puberty; ALCs arise in the interstitium of adult testes from unknown progenitor cells and become the major source of androgens that contr |
| HP:0002215 | Sparse axillary hair | MP:0014051 | abnormal maxillary-premaxillary suture morphology | any structural anomaly of the line of union of the two portions of the maxilla (pre- and postmaxilla) |
| HP:0000008 | Abnormality of female internal genitalia | MP:0013785 | abnormal mammary gland bud morphology | any structural anomaly of the morphologically distinct bulb of epithelial cells formed once each mammary placode expands and invaginates into the underlying mesenchyme; in mouse embryos at E12.5, each epithelial bud with its contiguous mesenchyme is eleva |
| HP:0000037 | Male pseudohermaphroditism | MP:0013745 | abnormal eyelid margin morphology | any structural anomaly of the confluence of the mucosal surface of the conjunctiva, the edge of the orbicularis, and the cutaneous epithelium |
| HP:0008655 | Aplasia/Hypoplasia of the fallopian tube | MP:0013312 | absent ovary capsule | missing the tough, fibrous capsule surrounding each ovary |
| Disease ID | 83 |
|---|---|
| Disease | androgen insensitivity syndrome |
| Case | (Waiting for update.) |