eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| complete androgen insensitivity syndrome | ||||
| Disease ID | 495 |
|---|---|
| Disease | complete androgen insensitivity syndrome |
| Definition | aspects of female morphology in a XY genotype caused by defects in cellular receptors for testosterone and dihydrotestosterone, transmitted as an x-linked trait. |
| Synonym | androgen insensitivity syndrome, complete androgen insensitivity, complete androgen-insensitivity syndrome, complete androgen-insensitivity syndromes, complete cais complete androgen insensitivity complete androgen insensitivity syndrome (disorder) complete androgen-insensitivity syndrome complete androgen-insensitivity syndromes feminisation - testicular feminization - testicular feminization syndrome testicular feminization syndrome, testicular feminization syndromes testicular feminization syndromes, testicular feminization testicular feminization, testicular feminizations, testicular goldberg - maxwell syndrome goldberg-maxwell syndrome goldberg-maxwell syndrome (disorder) goldberg-morris syndrome hairless woman syndrome hairless women syndrome morris syndrome syndrome of feminising testes syndrome of feminizing testes testicular feminisation testicular feminisation syndrome testicular feminization testicular feminization (disorder) testicular feminization syndromes testicular feminization, nos testicular feminizations tfm - testicular feminisation syndrome tfm - testicular feminization syndrome |
| Orphanet | |
| DOID | |
| ICD10 | |
| UMLS | C0936016 |
| SNOMED-CT | |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:10) C0039585 | androgen insensitivity syndrome | 6 C0206723 | sertoli-leydig cell tumor | 1 C0017601 | glaucoma | 1 C0019294 | inguinal hernia | 1 C0023601 | leydig cell tumor | 1 C0271650 | glucose intolerance | 1 C0339573 | primary open-angle glaucoma | 1 C0042164 | uveitis | 1 C0017612 | open-angle glaucoma | 1 C0021359 | infertile | 1 |
| Curated Gene | (Waiting for update.) |
| Inferring Gene | Entrez_id | Symbol | Resource(Total Genes:1) |
| Text Mined Gene | (Waiting for update.) |
| Locus | Symbol | Locus(Total Locus:1) AR | Xq12 |
| Disease ID | 495 |
|---|---|
| Disease | complete androgen insensitivity syndrome |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:16) HP:0000028 | Cryptorchidism HP:0000786 | Primary amenorrhea HP:0000037 | Male pseudohermaphroditism HP:0000771 | Gynecomastia HP:0000763 | Sensory neuropathy HP:0000787 | Nephrolithiasis HP:0000789 | Infertility HP:0000151 | Aplasia of the uterus HP:0001337 | Tremor HP:0002555 | Absent pubic hair HP:0008655 | Aplasia/Hypoplasia of the fallopian tube HP:0000939 | Osteoporosis HP:0002221 | Absent axillary hair HP:0003394 | Muscle cramps HP:0000030 | Testicular gonadoblastoma HP:0000023 | Inguinal hernia |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:8) HP:0000554 | Uveitis | 1 HP:0008551 | Hypoplasia of the external ear | 1 HP:0000501 | Glaucoma | 1 HP:0000833 | Glucose intolerance | 1 HP:0000023 | Inguinal hernia | 1 HP:0002021 | Pyloric stenosis | 1 HP:0010788 | Testicular neoplasm | 1 HP:0001596 | Hair loss | 1 |
| Disease ID | 495 |
|---|---|
| Disease | complete androgen insensitivity syndrome |
| Manually Symptom | (Waiting for update.) |
| Text Mined Symptom | (Waiting for update.) |
Manually Genotype(Total Text Mining Genotypes:0) |
|---|
| (Waiting for update.) |
Text Mining Genotype(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
All Snps(Total Genotypes:5) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs137852587 | 16118342 | 367 | AR | umls:C0936016 | BeFree | Another mutation (AR-F582Y) was found in a partial AIS patient (subject 2). | 0.060184151 | 2005 | AR | X | 67643387 | T | A |
| rs139524801 | 17970778 | 367 | AR | umls:C0936016 | 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). | 0.060184151 | 2008 | AR | X | 67643283 | G | T |
| rs143040492 | 12006704 | 367 | AR | umls:C0936016 | 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. | 0.060184151 | 2002 | AR | X | 67723690 | C | T |
| rs200390780 | 17970778 | 367 | AR | umls:C0936016 | 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). | 0.060184151 | 2008 | AR | X | 67546570 | C | T |
| rs9332971 | 15118070 | 367 | AR | umls:C0936016 | BeFree | Two substitutions at an identical location in the ligand-binding domain (LBD) of the human androgen receptor (AR), R855C and R855H, are associated with complete androgen insensitivity syndrome (AIS) and partial AIS, respectively. | 0.060184151 | 2004 | AR | X | 67722944 | G | A |
GWASdb Annotation(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
GWASdb Snp Trait(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
Mapped by lexical matching(Total Items:4) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0000151 | Aplasia of the uterus | MP:0003694 | failure of blastocyst to hatch from the zona pellucida | the hatching of the cellular blastocyst from the zona pellucida, the thick solid transparent outer membrane that surrounds the developing ovum and embryo prior to implantation, fails to occur |
| 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: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: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 |
Mapped by homologous gene(Total Items:15) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| 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:0000789 | Infertility | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| 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:0000787 | Nephrolithiasis | MP:0020316 | decreased vascular endothelial cell proliferation | decrease in the expansion rate of any vascular endothelial cell population by cell division |
| 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:0000786 | Primary amenorrhea | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0000151 | Aplasia of the uterus | MP:0013312 | absent ovary capsule | missing the tough, fibrous capsule surrounding each ovary |
| HP:0001337 | Tremor | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0000939 | Osteoporosis | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0003394 | Muscle cramps | MP:0020220 | decreased tear production | decreased production of the amount of fluid produced in the eye |
| 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 |
| HP:0000771 | Gynecomastia | 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:0000763 | Sensory neuropathy | MP:0014185 | cerebellum atrophy | acquired diminution of the size of the cerebellum associated with wasting as from death and reabsorption of cells, diminished cellular proliferation, decreased cellular volume, pressure, ischemia, malnutrition, reduced function or malfunction, or hormonal |
| Disease ID | 495 |
|---|---|
| Disease | complete androgen insensitivity syndrome |
| Case | (Waiting for update.) |