Details of Disease

General Information of Disease (ID: DISQL418)

Disease Name	Complete androgen insensitivity syndrome
Synonyms	androgen insensitivity syndrome, complete; complete androgen resistance syndrome; CAIS
Disease Class	LD2A: Sex development malformative disorder
Definition	Complete androgen insensitivity syndrome (CAIS) is a form of androgen insensitivity syndrome (AIS), a disorder of sex development (DSD), characterized by the presence of female external genitalia in a 46,XY individual with normal testis development but undescended testes and unresponsiveness to age-appropriate levels of androgens.
Disease Hierarchy	DISUZBBO: Androgen insensitivity syndrome DISQL418: Complete androgen insensitivity syndrome
ICD Code	ICD-11 ICD-11: LD2A.4 ICD-10 ICD-10: E34.5 Expand ICD-11 'LD2A.4 Expand ICD-10 'E34.5
Disease Identifiers	MONDO ID MONDO_0021023 MESH ID D013734 UMLS CUI C0936016 MedGen ID 183188 Orphanet ID 99429 SNOMED CT ID 3.69E+14

Drug-Interaction Atlas (DIA) of This Disease

Drug-Interaction Atlas (DIA)

This Disease is Treated as An Indication in 5 Clinical Trial Drug(s)

Drug Name	Drug ID	Highest Status	Drug Type	REF
Basmisanil	DMQ8J0U	Phase 2	NA	[1]
ITI-214	DM08TH3	Phase 1/2	NA	[1]
ASP6981	DMVOVKW	Phase 1	NA	[1]
AVL-3288	DMGAKR9	Phase 1	NA	[1]
SKL20540	DML4BZ2	Phase 1	NA	[1]
------------------------------------------------------------------------------------

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 6 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
AR	TTS64P2	Supportive	X-linked	[2]
GART	TTEXB9Z	moderate	Biomarker	[3]
IGFBP5	TTDWEA8	moderate	Altered Expression	[4]
AMHR2	TTZDCPK	Strong	Genetic Variation	[5]
FKBP4	TTHY0FT	Strong	Biomarker	[6]
LYVE1	TTG8DNU	Strong	Genetic Variation	[7]
------------------------------------------------------------------------------------


⏷ Show the Full List of 6 DTT(s)

This Disease Is Related to 1 DME Molecule(s)

Gene Name	DME ID	Evidence Level	Mode of Inheritance	REF
HSD17B3	DEX8J7E	moderate	Biomarker	[8]
------------------------------------------------------------------------------------

This Disease Is Related to 5 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
AR	OTUBKAZZ	Supportive	X-linked	[2]
PAICS	OTMZN747	moderate	Biomarker	[3]
DDX3Y	OTKL1FNX	Strong	Biomarker	[9]
TSPY1	OTPY57X4	Strong	Biomarker	[9]
TSPY3	OTQK3AKI	Strong	Biomarker	[9]
------------------------------------------------------------------------------------

References

1	Clinical pipeline report, company report or official report of the Pharmaceutical Research and Manufacturers of America (PhRMA)
2	Androgen Insensitivity Syndrome. 1999 Mar 24 [updated 2017 May 11]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews(?) [Internet]. Seattle (WA): University of Washington, Seattle; 1993C2024.
3	A novel mutation (c.T3816 > C) in the androgen receptor gene in a 46,XY female patient with androgen insensitivity syndrome.Endokrynol Pol. 2013;64(5):398-402. doi: 10.5603/EP.2013.0023.
4	Genital skin fibroblasts (GF) of patients with androgen insensitivity syndrome express higher insulin-like growth factor binding protein (IGFBP)-2, -3 and -5 than GF of normally virilized males.Horm Res. 2003;60(2):73-8. doi: 10.1159/000071874.
5	Gonadal structures in a fetus with complete androgen insensitivity syndrome and persistent Mllerian derivatives: comparison with normal fetal development.Fertil Steril. 2011 Mar 1;95(3):1119.e9-14. doi: 10.1016/j.fertnstert.2010.09.028. Epub 2010 Oct 25.
6	Essential role for Co-chaperone Fkbp52 but not Fkbp51 in androgen receptor-mediated signaling and physiology.J Biol Chem. 2007 Feb 16;282(7):5026-5036. doi: 10.1074/jbc.M609360200. Epub 2006 Dec 1.
7	A naturally occurring mutation in the human androgen receptor of a subject with complete androgen insensitivity confers binding and transactivation by estradiol.Mol Cell Endocrinol. 2007 Jan 15;263(1-2):79-89. doi: 10.1016/j.mce.2006.08.012. Epub 2006 Oct 2.
8	Features of the fetal gonad in androgen synthesis in the postpubertal testis are preserved in complete androgen insensitivity syndrome due to a novel genetic splice site donor variant in androgen receptor gene intron 1.J Steroid Biochem Mol Biol. 2019 Oct;193:105420. doi: 10.1016/j.jsbmb.2019.105420. Epub 2019 Jul 5.
9	Gonadoblastoma Y locus genes expressed in germ cells of individuals with dysgenetic gonads and a Y chromosome in their karyotypes include DDX3Y and TSPY.Hum Reprod. 2019 Apr 1;34(4):770-779. doi: 10.1093/humrep/dez004.