Details of Disease | DrugMAP

General Information of Disease (ID: DISIL2ZI)

Disease Name	Gonadal dysgenesis
Synonyms	gonadal dysgenesis syndrome
Definition	A congenital disorder characterized by the presence of extremely hypoplastic gonads preventing the development of secondary sex characteristics.
Disease Hierarchy	DISICMNI: Hypogonadism DISIL2ZI: Gonadal dysgenesis
Disease Identifiers	MONDO ID MONDO_0001967 MESH ID D006059 UMLS CUI C0018051 MedGen ID 9075 HPO ID HP:0000133 SNOMED CT ID 205681004

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
WT1	TTZ8UT4	moderate	Genetic Variation	[1]
FANCA	TTV5HJS	Strong	Genetic Variation	[2]
GART	TTEXB9Z	Strong	Biomarker	[3]
MAP3K1	TTW8TJI	Strong	Biomarker	[4]
NR0B1	TTTK36V	Strong	Biomarker	[5]
SRD5A2	TTT02K8	Strong	Genetic Variation	[6]
------------------------------------------------------------------------------------


⏷ Show the Full List of 6 DTT(s)

This Disease Is Related to 14 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
DMRT1	OT5PU9U1	Limited	Genetic Variation	[7]
FMR1	OTWEV0T5	Limited	Biomarker	[8]
AMH	OT5FH4BD	Disputed	Genetic Variation	[9]
NUP107	OTG4RDYS	moderate	Biomarker	[10]
SPIDR	OTO1OII0	moderate	Biomarker	[11]
DHX37	OTM1A5KP	Strong	Genetic Variation	[12]
DMRT2	OTA39QNR	Strong	Genetic Variation	[13]
LHX9	OTDPEHC4	Strong	Genetic Variation	[14]
MAMLD1	OT9EVMQY	Strong	Biomarker	[15]
NR5A1	OTOULYR4	Strong	Genetic Variation	[16]
PAICS	OTMZN747	Strong	Biomarker	[3]
PPP2R3C	OT7E6V9B	Strong	Genetic Variation	[17]
SOX8	OTEJXYZM	Strong	Genetic Variation	[18]
SRY	OT516T6D	Strong	Genetic Variation	[1]
------------------------------------------------------------------------------------


⏷ Show the Full List of 14 DOT(s)

References

1	Rapid Molecular Genetic Diagnosis with Next-Generation Sequencing in 46,XY Disorders of Sex Development Cases: Efficiency and Cost Assessment.Horm Res Paediatr. 2017;87(2):81-87. doi: 10.1159/000452995. Epub 2016 Nov 30.
2	A Homozygous Missense Mutation in FANCA Gene in a 46,XY Female with Gonadal Dysgenesis.Sex Dev. 2018;12(5):239-243. doi: 10.1159/000491407. Epub 2018 Jul 21.
3	Increased risk of gonadal malignancy and prophylactic gonadectomy: a study of 102 phenotypic female patients with Y chromosome or Y-derived sequences.Hum Reprod. 2014 Jul;29(7):1413-9. doi: 10.1093/humrep/deu109. Epub 2014 May 14.
4	MAP3K1-related gonadal dysgenesis: Six new cases and review of the literature.Am J Med Genet C Semin Med Genet. 2017 Jun;175(2):253-259. doi: 10.1002/ajmg.c.31559. Epub 2017 May 15.
5	Gene dosage of DAX-1, determining in sexual differentiation: duplication of DAX-1 in two sisters with gonadal dysgenesis.Mol Biol Rep. 2019 Jun;46(3):2971-2978. doi: 10.1007/s11033-019-04758-y. Epub 2019 Mar 16.
6	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.
7	9p partial monosomy and disorders of sex development: review and postulation of a pathogenetic mechanism.Am J Med Genet A. 2013 Aug;161A(8):1882-96. doi: 10.1002/ajmg.a.36018. Epub 2013 Jul 3.
8	Fragile x syndrome.Curr Genomics. 2011 May;12(3):216-24. doi: 10.2174/138920211795677886.
9	Update--steroidogenic factor 1 (SF-1, NR5A1).Minerva Endocrinol. 2010 Jun;35(2):73-86.
10	A mutation in the nucleoporin-107 gene causes XX gonadal dysgenesis. J Clin Invest. 2015 Nov 2;125(11):4295-304. doi: 10.1172/JCI83553. Epub 2015 Oct 20.
11	A Biallelic Mutation in the Homologous Recombination Repair Gene SPIDR Is Associated With Human Gonadal Dysgenesis. J Clin Endocrinol Metab. 2017 Feb 1;102(2):681-688. doi: 10.1210/jc.2016-2714.
12	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.
13	A region of human chromosome 9p required for testis development contains two genes related to known sexual regulators.Hum Mol Genet. 1999 Jun;8(6):989-96. doi: 10.1093/hmg/8.6.989.
14	Absence of mutations involving the LIM homeobox domain gene LHX9 in 46,XY gonadal agenesis and dysgenesis.J Clin Endocrinol Metab. 2001 Jun;86(6):2465-9. doi: 10.1210/jcem.86.6.7539.
15	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.
16	The importance of the multiplex ligation-dependent probe amplification in the identification of a novel two-exon deletion of the NR5A1 gene in a patient with 46,XY differences of sex development.Mol Biol Rep. 2019 Oct;46(5):5595-5601. doi: 10.1007/s11033-019-04980-8. Epub 2019 Jul 23.
17	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.
18	Genetic evaluation of disorders of sex development: current practice and novel gene discovery.Curr Opin Endocrinol Diabetes Obes. 2019 Feb;26(1):54-59. doi: 10.1097/MED.0000000000000452.