Details of Disease

General Information of Disease (ID: DISMNH0C)

• Disease Name: 46,XY partial gonadal dysgenesis
• Synonyms: 46,XY PGD; 46,XY partial testicular dysgenesis
• Definition: 46,XY partial gonadal dysgenesis (46,XY PGD) is a disorder of sex development (DSD) associated with anomalies in gonadal development that results in genital ambiguity of variable degree ranging from almost female phenotype to almost male phenotype in a patient carrying a male 46,XY karyotype.|Editor note: todo - make disjoint with complete form (some classes inherit from both)
• Disease Hierarchy:
  DIS78CGG: 46,XY disorder of sex development
  DISMNH0C: 46,XY partial gonadal dysgenesis
• Disease Identifiers:
  MONDO ID: MONDO_0016674
  UMLS CUI: C4510744
  MedGen ID: 1388250
  Orphanet ID: 251510
  SNOMED CT ID: 725045004

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 9 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
WWOX	OTBDGSMG	Supportive	Autosomal dominant	[1]
ZFPM2	OTBBEWEO	Supportive	Autosomal dominant	[2]
DHX37	OTM1A5KP	Supportive	Autosomal dominant	[7]
GATA4	OTQHWAZG	Supportive	Autosomal dominant	[3]
MAP3K1	OTS3FVTY	Supportive	Autosomal dominant	[4]
NR5A1	OTOULYR4	Supportive	Autosomal dominant	[8]
SOX9	OTVDJFGN	Supportive	Autosomal dominant	[9]
SRY	OT516T6D	Supportive	Autosomal dominant	[10]
DMRT3	OTNV7F7Q	Strong	Genetic Variation	[11]

This Disease Is Related to 6 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
GATA4	TT1VDN2	Supportive	Autosomal dominant	[3]
MAP3K1	TTQBCEJ	Supportive	Autosomal dominant	[4]
GATA4	TT1VDN2	Strong	GermlineCausalMutation	[3]
MAP3K1	TTW8TJI	Strong	GermlineCausalMutation	[4]
NR0B1	TTTK36V	Strong	ChromosomalRearrangement	[5]
WT1	TTZ8UT4	Strong	Genetic Variation	[6]

References

• [1] A multi-exon deletion within WWOX is associated with a 46,XY disorder of sex development. Eur J Hum Genet. 2012 Mar;20(3):348-51. doi: 10.1038/ejhg.2011.204. Epub 2011 Nov 9.
• [2] Mutations in the FOG2/ZFPM2 gene are associated with anomalies of human testis determination. Hum Mol Genet. 2014 Jul 15;23(14):3657-65. doi: 10.1093/hmg/ddu074. Epub 2014 Feb 18.
• [3] Loss-of-function mutation in GATA4 causes anomalies of human testicular development. Proc Natl Acad Sci U S A. 2011 Jan 25;108(4):1597-602. doi: 10.1073/pnas.1010257108. Epub 2011 Jan 10.
• [4] 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.
• [5] Gene dosage imbalances in patients with 46,XY gonadal DSD detected by an in-house-designed synthetic probe set for multiplex ligation-dependent probe amplification analysis.Clin Genet. 2008 May;73(5):453-64. doi: 10.1111/j.1399-0004.2008.00980.x. Epub 2008 Apr 2.
• [6] WT1 deletion leading to severe 46,XY gonadal dysgenesis, Wilms tumor and gonadoblastoma: case report.Horm Res Paediatr. 2015;83(3):211-6. doi: 10.1159/000368964. Epub 2015 Jan 20.
• [7] 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.
• [8] Long-Term Follow-Up of Patients with 46,XY Partial Gonadal Dysgenesis Reared as Males. Int J Endocrinol. 2014;2014:480724. doi: 10.1155/2014/480724. Epub 2014 Dec 14.
• [9] 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.
• [10] Primary amenorrhea in a 46,XY adolescent girl with partial gonadal dysgenesis: identification of a new SRY gene mutation. Fertil Steril. 2007 Nov;88(5):1437.e21-5. doi: 10.1016/j.fertnstert.2007.01.048. Epub 2007 May 10.
• [11] Association of deletion 9p, 46,XY gonadal dysgenesis and autistic spectrum disorder.Mol Hum Reprod. 2007 Sep;13(9):685-9. doi: 10.1093/molehr/gam045. Epub 2007 Jul 20.