Details of Disease | DrugMAP

General Information of Disease (ID: DISLF3LT)

Disease Name	46,XY complete gonadal dysgenesis
Synonyms	sex-reversing locus on X, formerly; gonadal dysgenesis, XY female type; testis-determining Factor, X-chromosomal; sex-reversing locus on X; 46,XY pure gonadal dysgenesis; 46, XY pure gonadal dysgenesis; 46, XY complete gonadal dysgenesis; 46,XY gonadal dysgenesis; 46, XY CGD; 46,XY SEX reversal; 46,XY CGD; 46 XY gonadal dysgenesis; pure gonadal dysgenesis 46,XY; Swyer syndrome
Definition	46,XY complete gonadal dysgenesis (46,XY CGD) is a disorder of sex development (DSD) associated with anomalies in gonadal development that result in the presence of female external and internal genitalia despite the 46,XY karyotype.
Disease Hierarchy	DISQCXZX: Disorder of development or morphogenesis DISIL2ZI: Gonadal dysgenesis DISQ89HN: Familial hypertrophic cardiomyopathy DISLF3LT: 46,XY complete gonadal dysgenesis
Disease Identifiers	MONDO ID MONDO_0010765 MESH ID D006061 UMLS CUI C2936694 MedGen ID 445380 Orphanet ID 242 SNOMED CT ID 95218005

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 3 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
MAP3K1	TTQBCEJ	Supportive	Autosomal dominant	[1]
WT1	TTZ8UT4	moderate	Genetic Variation	[2]
MAP3K1	TTW8TJI	Strong	GermlineCausalMutation	[1]
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This Disease Is Related to 14 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
CBX2	OTOQ5WS4	Supportive	Autosomal dominant	[3]
DHH	OT3B7721	Supportive	Autosomal dominant	[4]
DHX37	OTM1A5KP	Supportive	Autosomal dominant	[5]
MAP3K1	OTS3FVTY	Supportive	Autosomal dominant	[1]
NR5A1	OTOULYR4	Supportive	Autosomal dominant	[4]
SOX9	OTVDJFGN	Supportive	Autosomal dominant	[6]
SRY	OT516T6D	Supportive	Autosomal dominant	[4]
DMRT1	OT5PU9U1	moderate	Genetic Variation	[7]
DDX3Y	OTKL1FNX	Strong	Genetic Variation	[8]
FTHL17	OTIWALXH	Strong	Genetic Variation	[9]
MAMLD1	OT9EVMQY	Strong	Genetic Variation	[10]
PPP2R3C	OT7E6V9B	Strong	Genetic Variation	[11]
TSPY1	OTPY57X4	Strong	Altered Expression	[8]
TSPY3	OTQK3AKI	Strong	Altered Expression	[8]
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⏷ Show the Full List of 14 DOT(s)

References

1	Mutations in MAP3K1 cause 46,XY disorders of sex development and implicate a common signal transduction pathway in human testis determination. Am J Hum Genet. 2010 Dec 10;87(6):898-904. doi: 10.1016/j.ajhg.2010.11.003.
2	WT1 mutation as a cause of 46 XY DSD and Wilm's tumour: a case report and literature review.Acta Paediatr. 2011 Jul;100(7):e39-42. doi: 10.1111/j.1651-2227.2011.02167.x. Epub 2011 Feb 14.
3	Ovaries and female phenotype in a girl with 46,XY karyotype and mutations in the CBX2 gene. Am J Hum Genet. 2009 May;84(5):658-63. doi: 10.1016/j.ajhg.2009.03.016. Epub 2009 Apr 9.
4	Nonsyndromic Disorders of Testicular Development Overview. 2008 May 21 [updated 2022 Aug 18]. 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.
5	Pathogenic variants in the DEAH-box RNA helicase DHX37 are a frequent cause of 46,XY gonadal dysgenesis and 46,XY testicular regression syndrome. Genet Med. 2020 Jan;22(1):150-159. doi: 10.1038/s41436-019-0606-y. Epub 2019 Jul 24.
6	Disruption of a long distance regulatory region upstream of SOX9 in isolated disorders of sex development. J Med Genet. 2011 Dec;48(12):825-30. doi: 10.1136/jmedgenet-2011-100255. Epub 2011 Nov 2.
7	Chromosome 9p deletion syndrome and sex reversal: novel findings and redefinition of the critically deleted regions.Am J Med Genet A. 2012 Sep;158A(9):2266-71. doi: 10.1002/ajmg.a.35489. Epub 2012 Jul 20.
8	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.
9	Novel mutation in FTHL17 gene in pedigree with 46,XY pure gonadal dysgenesis.Fertil Steril. 2019 Jun;111(6):1226-1235.e1. doi: 10.1016/j.fertnstert.2019.01.027. Epub 2019 Mar 25.
10	A novel hemizygous mutation of MAMLD1 in a patient with 46,XY complete gonadal dysgenesis.Sex Dev. 2015;9(2):80-5. doi: 10.1159/000371603. Epub 2015 Feb 3.
11	PPP2R3C gene variants cause syndromic 46,XY gonadal dysgenesis and impaired spermatogenesis in humans. Eur J Endocrinol. 2019 May 1;180(5):291-309. doi: 10.1530/EJE-19-0067.