Details of Disease

General Information of Disease (ID: DISXIXHW)

Disease Name Ovarian dysgenesis 1
Synonyms
ovarian failure, hypergonadotropic; ovarian dysgenesis, hypergonadotropic, autosomal recessive; XXGD; ovarian dysgenesis, hypergonadotropic, with normal karyotype; gonadal dysgenesis, 20 type; gonadal dysgenesis, XX type; XX gonadal dysgenesis; ODG1; ovarian dysgenesis 1
Disease Hierarchy
DISBB9HA: 46 XX gonadal dysgenesis
DISXIXHW: Ovarian dysgenesis 1
Disease Identifiers
MONDO ID
MONDO_0024463
MESH ID
D023961
UMLS CUI
C0949595
OMIM ID
233300
MedGen ID
215397

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 Strong Autosomal recessive [1]
FSHR TTZFDBT Strong Genetic Variation [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 moderate Genetic Variation [3]
FSHR OT9MVMLI Strong Autosomal recessive [1]
MRPS22 OTIVNAJL Strong GermlineCausalMutation [4]
NR5A1 OTOULYR4 Strong Genetic Variation [5]
NUP107 OTG4RDYS Strong GermlineCausalMutation [6]
POLR3H OT7GM7MX Strong GermlineCausalMutation [7]
PSMC3IP OT9UB5UO Strong Genetic Variation [8]
SF1 OTLEDM2S Strong Genetic Variation [5]
SPIDR OTO1OII0 Strong GermlineCausalMutation [9]
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⏷ Show the Full List of 9 DOT(s)

References

1 The effect of a null mutation in the follicle-stimulating hormone receptor gene on mouse reproduction. Endocrinology. 2000 May;141(5):1795-803. doi: 10.1210/endo.141.5.7456.
2 A novel follicle-stimulating hormone receptor mutation causing primary ovarian failure: a fertility application of whole exome sequencing.Hum Reprod. 2016 Apr;31(4):905-14. doi: 10.1093/humrep/dew025. Epub 2016 Feb 23.
3 BMP15 mutations in XX gonadal dysgenesis and premature ovarian failure.Am J Obstet Gynecol. 2008 Jan;198(1):84.e1-5. doi: 10.1016/j.ajog.2007.05.029. Epub 2007 Sep 12.
4 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.
5 Preserved fertility in a patient with a 46,XY disorder of sex development due to a new heterozygous mutation in the NR5A1/SF-1 gene: evidence of 46,XY and 46,XX gonadal dysgenesis phenotype variability in multiple members of an affected kindred.Horm Res Paediatr. 2012;78(2):119-26. doi: 10.1159/000338346. Epub 2012 Aug 14.
6 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.
7 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.
8 Primary Ovarian Insufficiency and Azoospermia in Carriers of a Homozygous PSMC3IP Stop Gain Mutation.J Clin Endocrinol Metab. 2018 Feb 1;103(2):555-563. doi: 10.1210/jc.2017-01966.
9 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.