PedAM

Pediatric Disease Annotations & Medicines


	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	ORPHANET:754
OMIM	OMIM:300068
DOID	DOID:4674
UMLS	C0039585
MeSH	D013734
SNOMED-CT	SNOMEDCT_US_2016_09_01:12313004
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:7) C0039585 \| androgen insensitivity syndrome \| 25 C0023601 \| leydig cell tumor \| 1 C0019294 \| inguinal hernia \| 1 C0036631 \| seminoma \| 1 C0021359 \| infertility \| 1 C0206723 \| sertoli-leydig cell tumor \| 1 C0021364 \| male infertility \| 1
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:1) AR \| 367 \| CLINVAR;CTD_human;UNIPROT;GHR
Inferring Gene	Entrez_id \| Symbol \| Resource(Total Genes:1) 367 \| AR \| infer
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:86) 2273 \| FHL1 \| DISEASES 7544 \| ZFY \| DISEASES 10777 \| ARPP21 \| DISEASES 2099 \| ESR1 \| DISEASES 268 \| AMH \| DISEASES 5445 \| PON2 \| DISEASES 3202 \| HOXA5 \| DISEASES 6928 \| HNF1B \| DISEASES 5961 \| PRPH2 \| DISEASES 4015 \| LOX \| DISEASES 3488 \| IGFBP5 \| DISEASES 4953 \| ODC1 \| DISEASES 27241 \| BBS9 \| DISEASES 6662 \| SOX9 \| DISEASES 10155 \| TRIM28 \| DISEASES 10894 \| LYVE1 \| DISEASES 6926 \| TBX3 \| DISEASES 269 \| AMHR2 \| DISEASES 11143 \| KAT7 \| DISEASES 1588 \| CYP19A1 \| DISEASES 11019 \| LIAS \| DISEASES 5862 \| RAB2A \| DISEASES 23530 \| NNT \| DISEASES 5443 \| POMC \| DISEASES 5446 \| PON3 \| DISEASES 50846 \| DHH \| DISEASES 3067 \| HDC \| DISEASES 9611 \| NCOR1 \| DISEASES 6872 \| TAF1 \| DISEASES 6770 \| STAR \| DISEASES 3973 \| LHCGR \| DISEASES 122042 \| RXFP2 \| DISEASES 5267 \| SERPINA4 \| DISEASES 201161 \| CENPV \| DISEASES 9427 \| ECEL1 \| DISEASES 7543 \| ZFX \| DISEASES 794 \| CALB2 \| DISEASES 5619 \| PRM1 \| DISEASES 6047 \| RNF4 \| DISEASES 8630 \| HSD17B6 \| DISEASES 8648 \| NCOA1 \| DISEASES 3640 \| INSL3 \| DISEASES 7490 \| WT1 \| DISEASES 199720 \| GGN \| DISEASES 1743 \| DLST \| DISEASES 8856 \| NR1I2 \| DISEASES 8409 \| UXT \| DISEASES 473 \| RERE \| DISEASES 58526 \| MID1IP1 \| DISEASES 866 \| SERPINA6 \| DISEASES 2100 \| ESR2 \| DISEASES 347 \| APOD \| DISEASES 6942 \| TCF20 \| DISEASES 1066 \| CES1 \| DISEASES 3428 \| IFI16 \| DISEASES 6277 \| S100A6 \| DISEASES 3283 \| HSD3B1 \| DISEASES 1586 \| CYP17A1 \| DISEASES 1629 \| DBT \| DISEASES 6418 \| SET \| DISEASES 2516 \| NR5A1 \| DISEASES 8518 \| IKBKAP \| DISEASES 367 \| AR \| DISEASES 3293 \| HSD17B3 \| DISEASES 369 \| ARAF \| DISEASES 7403 \| KDM6A \| DISEASES 190 \| NR0B1 \| DISEASES 5256 \| PHKA2 \| DISEASES 6462 \| SHBG \| DISEASES 265 \| AMELX \| DISEASES 1646 \| AKR1C2 \| DISEASES 6736 \| SRY \| DISEASES 10401 \| PIAS3 \| DISEASES 7110 \| TMF1 \| DISEASES 93986 \| FOXP2 \| DISEASES 10499 \| NCOA2 \| DISEASES 7258 \| TSPY1 \| DISEASES 100289087 \| TSPY10 \| DISEASES 1589 \| CYP21A2 \| DISEASES 196527 \| ANO6 \| DISEASES 10046 \| MAMLD1 \| DISEASES 3035 \| HARS \| DISEASES 221223 \| CES5A \| DISEASES 2053 \| EPHX2 \| DISEASES 7033 \| TFF3 \| DISEASES 1506 \| CTRL \| DISEASES
Locus	(Waiting for update.)

Disease ID	83
Disease	androgen insensitivity syndrome
Integrated Phenotype	HPO \| Name(Total Integrated Phenotypes:15) HP:0002225 \| Sparse pubic hair HP:0008655 \| Aplasia/Hypoplasia of the fallopian tube HP:0002221 \| Absent axillary hair HP:0000130 \| Abnormality of the uterus HP:0000823 \| Delayed puberty HP:0000008 \| Abnormality of female internal genitalia HP:0000037 \| Male pseudohermaphroditism HP:0000028 \| Cryptorchidism HP:0003251 \| Male infertility HP:0008684 \| Aplasia/hypoplasia of the uterus HP:0000033 \| Ambiguous genitalia, male HP:0002555 \| Absent pubic hair HP:0002215 \| Sparse axillary hair HP:0000023 \| Inguinal hernia HP:0010788 \| Testicular neoplasm
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:4) HP:0000047 \| Hypospadias \| 1 HP:0000023 \| Inguinal hernia \| 1 HP:0003251 \| Male infertility \| 1 HP:0000789 \| Infertility \| 1

Disease ID	83
Disease	androgen insensitivity syndrome
Manually Symptom	UMLS \| Name(Total Manually Symptoms:8) C1266157 \| intratubular germ cell neoplasia C0855197 \| testicular cancer C0280856 \| squamous cell carcinoma of the vulva C0206661 \| gonadoblastoma C0039590 \| testicular tumors C0037859 \| epididymal cyst C0036769 \| sertoli cell tumor C0013377 \| dysgerminoma
Text Mined Symptom	(Waiting for update.)

Manually Genotype(Total Text Mining 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:1)
HP ID	HP Name	MP ID	MP Name	Annotation
HP:0000008	Abnormality of female internal genitalia	MP:0001634	internal hemorrhage;HP:0011969	Elevated luteinizing hormone

Mapped by homologous gene(Total Items:1)
HP ID	HP Name	MP ID	MP Name	Annotation
HP:0002664	Neoplasm	MP:0005402	abnormal action potential;HP:0001419	X-linked recessive inheritance

Chemical(Total Drugs:0)
(Waiting for update.)

FDA approved drug and dosage information(Total Drugs:0)
(Waiting for update.)

FDA labeling changes(Total Drugs:0)
(Waiting for update.)

Web
Analytics