Details of Disease

General Information of Disease (ID: DIS0USUN)

• Disease Name: 46,XY sex reversal 2
• Synonyms: SRXY2; 46,XY SEX reversal 2; 46,XY Sex reversal, Dax1-related; dosage-sensitive Sex reversal; 46,XY sex reversal 2; 46,XY Sex reversal type 2; 46XY sex reversal 2, dosage-sensitive
• Disease Hierarchy:
  DISLF3LT: 46,XY complete gonadal dysgenesis
  DISMNH0C: 46,XY partial gonadal dysgenesis
  DIS0USUN: 46,XY sex reversal 2
• Disease Identifiers:
  MONDO ID: MONDO_0010226
  UMLS CUI: C1848296
  OMIM ID: 300018
  MedGen ID: 341190

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 11 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
CYP11B1	TTIQUX7	Limited	Altered Expression	[1]
CYP11B2	TT9MNE2	Limited	Altered Expression	[2]
EGLN2	TTMHFRY	Limited	Altered Expression	[3]
FGL2	TTYBS89	Limited	Biomarker	[4]
ITGA1	TTPERWV	Limited	Biomarker	[5]
MC2R	TTPWFDX	Limited	Altered Expression	[2]
TPSAB1	TTM1TDX	Limited	Genetic Variation	[6]
NR0B1	TTTK36V	Moderate	X-linked	[7]
CYP11A1	TTSYVO6	Strong	Biomarker	[8]
DUSP10	TTF3RJ0	Strong	Biomarker	[9]
TAP1	TT7JZI8	Strong	Genetic Variation	[10]

This Disease Is Related to 1 DTP Molecule(s)

Gene Name	DTP ID	Evidence Level	Mode of Inheritance	REF
SLC22A4	DT2EG60	Limited	Altered Expression	[11]

This Disease Is Related to 14 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
CITED2	OT812TV7	Limited	Altered Expression	[12]
GPR4	OTIBF32I	Limited	Biomarker	[13]
GPX2	OTXI2NTI	Limited	Altered Expression	[14]
HLTF	OTRX2OSF	Limited	Genetic Variation	[15]
IVNS1ABP	OTYHL4I7	Limited	Genetic Variation	[16]
LPIN1	OTQ75KF2	Limited	Altered Expression	[17]
PILRA	OTBE0PLF	Limited	Biomarker	[18]
PLCB4	OTPA0QHW	Limited	Genetic Variation	[19]
TPSB2	OTN769MT	Limited	Genetic Variation	[6]
NR0B1	OTC8P9GN	Moderate	X-linked	[7]
CBFA2T3	OTOJ10S1	Strong	Biomarker	[20]
CBLIF	OTNE20WU	Strong	Altered Expression	[21]
NR5A1	OTOULYR4	Strong	Biomarker	[2]
OCLN	OTSUTVWL	Strong	Biomarker	[22]

References

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• [2] Expression of aldosterone synthase and adrenocorticotropic hormone receptor in adrenal incidentalomas from normotensive and hypertensive patients: Distinguishing subclinical or atypical primary aldosteronism from adrenal incidentaloma.Int J Mol Med. 2012 Dec;30(6):1396-402. doi: 10.3892/ijmm.2012.1144. Epub 2012 Sep 27.
• [3] Loss of prolyl hydroxylase-1 protects against colitis through reduced epithelial cell apoptosis and increased barrier function.Gastroenterology. 2010 Dec;139(6):2093-101. doi: 10.1053/j.gastro.2010.06.068. Epub 2010 Jun 30.
• [4] FGL2 regulates IKK/NF-B signaling in intestinal epithelial cells and lamina propria dendritic cells to attenuate dextran sulfate sodium-induced colitis.Mol Immunol. 2020 Jan;117:84-93. doi: 10.1016/j.molimm.2019.11.001. Epub 2019 Nov 16.
• [5] Collagen-binding integrin alpha1beta1 regulates intestinal inflammation in experimental colitis.J Clin Invest. 2002 Dec;110(12):1773-82. doi: 10.1172/JCI15256.
• [6] Alpha tryptase allele of Tryptase 1 (TPSAB1) gene associated with Dengue Hemorrhagic Fever (DHF) and Dengue Shock Syndrome (DSS) in Vietnam and Philippines.Hum Immunol. 2015 May;76(5):318-23. doi: 10.1016/j.humimm.2015.03.009. Epub 2015 Mar 20.
• [7] Classification of Genes: Standardized Clinical Validity Assessment of Gene-Disease Associations Aids Diagnostic Exome Analysis and Reclassifications. Hum Mutat. 2017 May;38(5):600-608. doi: 10.1002/humu.23183. Epub 2017 Feb 13.
• [8] Decreased expression of cyclic adenosine monophosphate-regulated aldose reductase (AKR1B1) is associated with malignancy in human sporadic adrenocortical tumors.J Clin Endocrinol Metab. 2004 Jun;89(6):3010-9. doi: 10.1210/jc.2003-031830.
• [9] DUSP10 regulates intestinal epithelial cell growth and colorectal tumorigenesis. Oncogene. 2016 Jan 14;35(2):206-17.
• [10] Polymorphisms of the TAP 1 and 2 gene may influence clinical outcome of primary dengue viral infection.Scand J Immunol. 2008 Jun;67(6):618-25. doi: 10.1111/j.1365-3083.2008.02109.x. Epub 2008 Apr 21.
• [11] Organic cation transporter Octn1-mediated uptake of food-derived antioxidant ergothioneine into infiltrating macrophages during intestinal inflammation in mice.Drug Metab Pharmacokinet. 2015 Jun;30(3):231-9. doi: 10.1016/j.dmpk.2015.02.003. Epub 2015 Feb 25.
• [12] CBP/p300-interacting transactivator, with Glu/Asp-rich C-terminal domain, 2, and pre-B-cell leukemia transcription factor 1 in human adrenal development and disease.J Clin Endocrinol Metab. 2009 Feb;94(2):678-83. doi: 10.1210/jc.2008-1064. Epub 2008 Nov 4.
• [13] GPR4 deficiency alleviates intestinal inflammation in a mouse model of acute experimental colitis.Biochim Biophys Acta Mol Basis Dis. 2017 Feb;1863(2):569-584. doi: 10.1016/j.bbadis.2016.12.005. Epub 2016 Dec 7.
• [14] GPx2 Induction Is Mediated Through STAT Transcription Factors During Acute Colitis.Inflamm Bowel Dis. 2015 Sep;21(9):2078-89. doi: 10.1097/MIB.0000000000000464.
• [15] Helicase-like transcription factor (Hltf) gene-deletion promotes oxidative phosphorylation (OXPHOS) in colorectal tumors of AOM/DSS-treated mice.PLoS One. 2019 Aug 28;14(8):e0221751. doi: 10.1371/journal.pone.0221751. eCollection 2019.
• [16] Impact of dengue virus infection and its control.FEMS Immunol Med Microbiol. 1997 Aug;18(4):291-300. doi: 10.1111/j.1574-695X.1997.tb01058.x.
• [17] The phosphatidic acid phosphatase lipin-1 facilitates inflammation-driven colon carcinogenesis.JCI Insight. 2018 Sep 20;3(18):e97506. doi: 10.1172/jci.insight.97506. eCollection 2018 Sep 20.
• [18] Negative regulation of DSS-induced experimental colitis by PILR.Int Immunol. 2015 Jun;27(6):307-14. doi: 10.1093/intimm/dxv004. Epub 2015 Feb 20.
• [19] Joint ancestry and association test indicate two distinct pathogenic pathways involved in classical dengue fever and dengue shock syndrome.PLoS Negl Trop Dis. 2018 Feb 15;12(2):e0006202. doi: 10.1371/journal.pntd.0006202. eCollection 2018 Feb.
• [20] Kaiso is required for MTG16-dependent effects on colitis-associated carcinoma.Oncogene. 2019 Jun;38(25):5091-5106. doi: 10.1038/s41388-019-0777-7. Epub 2019 Mar 11.
• [21] Preventive Effect of Cardiotrophin-1 Administration before DSS-Induced Ulcerative Colitis in Mice.J Clin Med. 2019 Dec 1;8(12):2086. doi: 10.3390/jcm8122086.
• [22] Acer palmatum thumb. Ethanol Extract Alleviates Interleukin-6-Induced Barrier Dysfunction and Dextran Sodium Sulfate-Induced Colitis by Improving Intestinal Barrier Function and Reducing Inflammation.J Immunol Res. 2018 Oct 8;2018:5718396. doi: 10.1155/2018/5718396. eCollection 2018.