Details of Disease | DrugMAP

General Information of Disease (ID: DISBB9HA)

Disease Name	46 XX gonadal dysgenesis
Synonyms	ovarian dysgenesis; XX gonadal dysgenesis; 46,XX complete gonadal dysgenesis; FSH-RO; XX-GD; follicular stimulating hormone-resistant ovaries; 46,XX pure gonadal dysgenesis; 46,XX ovarian dysgenesis; 46,XX gonadal dysgenesis; XX female gonadal dysgenesis; hypergonadotropic ovarian dysgenesis
Definition	46,XX gonadal dysgenesis (46,XX GD) is a primary ovarian defect leading to premature ovarian failure (POF) in otherwise normal 46,XX females as a result of failure of the gonads to develop or due to resistance to gonadotrophin stimulation.
Disease Hierarchy	DISIL2ZI: Gonadal dysgenesis DIS4V9SY: Inherited primary ovarian failure DISBB9HA: 46 XX gonadal dysgenesis
Disease Identifiers	MONDO ID MONDO_0009299 MESH ID D023961 UMLS CUI C0685837 MedGen ID 146899 Orphanet ID 243 SNOMED CT ID 95198001

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 2 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
FSHR	TTZFDBT	Supportive	Autosomal dominant	[1]
FSHR	TTZFDBT	Definitive	GermlineCausalMutation	[2]
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This Disease Is Related to 9 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
BMP15	OT2G3YR1	Supportive	Autosomal dominant	[3]
BNC1	OTGJ5WUF	Supportive	Autosomal dominant	[4]
FSHR	OT9MVMLI	Supportive	Autosomal dominant	[1]
MRPS22	OTIVNAJL	Supportive	Autosomal dominant	[5]
NR5A1	OTOULYR4	Supportive	Autosomal dominant	[6]
NUP107	OTG4RDYS	Supportive	Autosomal dominant	[7]
POLR3H	OT7GM7MX	Supportive	Autosomal dominant	[8]
PSMC3IP	OT9UB5UO	Supportive	Autosomal dominant	[9]
SPIDR	OTO1OII0	Supportive	Autosomal dominant	[10]
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⏷ Show the Full List of 9 DOT(s)

References

1	Mutation in the follicle-stimulating hormone receptor gene causes hereditary hypergonadotropic ovarian failure. Cell. 1995 Sep 22;82(6):959-68. doi: 10.1016/0092-8674(95)90275-9.
2	A novel loss of function mutation in exon 10 of the FSH receptor gene causing hypergonadotrophic hypogonadism: clinical and molecular characteristics.Hum Reprod. 2003 Feb;18(2):251-6. doi: 10.1093/humrep/deg046.
3	Hypergonadotropic ovarian failure associated with an inherited mutation of human bone morphogenetic protein-15 (BMP15) gene. Am J Hum Genet. 2004 Jul;75(1):106-11. doi: 10.1086/422103. Epub 2004 May 10.
4	Basonuclin 1 deficiency is a cause of primary ovarian insufficiency. Hum Mol Genet. 2018 Nov 1;27(21):3787-3800. doi: 10.1093/hmg/ddy261.
5	Mutations in the mitochondrial ribosomal protein MRPS22 lead to primary ovarian insufficiency. Hum Mol Genet. 2018 Jun 1;27(11):1913-1926. doi: 10.1093/hmg/ddy098.
6	Clinical Practice Guidelines for Rare Diseases: The Orphanet Database. PLoS One. 2017 Jan 18;12(1):e0170365. doi: 10.1371/journal.pone.0170365. eCollection 2017.
7	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.
8	Exome Sequencing Reveals the POLR3H Gene as a Novel Cause of Primary Ovarian Insufficiency. J Clin Endocrinol Metab. 2019 Jul 1;104(7):2827-2841. doi: 10.1210/jc.2018-02485.
9	XX ovarian dysgenesis is caused by a PSMC3IP/HOP2 mutation that abolishes coactivation of estrogen-driven transcription. Am J Hum Genet. 2011 Oct 7;89(4):572-9. doi: 10.1016/j.ajhg.2011.09.006. Epub 2011 Sep 29.
10	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.