H00599 | |
H number | H00599 |
Name | Ovarian dysgenesis; 46,XX gonadal dysgenesis |
Description | Ovarian dysgenesis (ODG), also known as 46,XX gonadal dysgenesis, is a rare, genetically heterogeneous disorder characterized by lack of spontaneous pubertal development, primary amenorrhea, uterine hypoplasia, and hypergonadotropic hypogonadism as a result of streak gonads. |
Category | Reproductive system disease |
Network | nt06507(H00599) TGFB signaling nt06508(H00599) Interstrand crosslink repair |
Gene | (ODG1) FSHR [HSA:2492] [KO:K04247] (ODG2) BMP15 [HSA:9210] [KO:K05498] (ODG3) PSMC3IP [HSA:29893] [KO:K06695] (ODG4) MCM9 [HSA:254394] [KO:K10738] (ODG5) SOHLH1 [HSA:402381] [KO:K22495] (ODG6) NUP107 [HSA:57122] [KO:K14301] (ODG7) MRPS22 [HSA:56945] [KO:K17401] (ODG8) ESR2 [HSA:2100] [KO:K08551] (ODG9) SPIDR [HSA:23514] [KO:K22806] (ODG10) ZSWIM7 [HSA:125150] [KO:K25770] |
Pathogen | - |
Env factor | - |
Carcinogen | - |
Drug | - |
Comment | - |
Other DBs | ICD-11: LB45.1 ICD-10: Q99.1 MeSH: D023961 OMIM: 233300 300510 614324 616185 617690 618078 618117 618187 619665 619834 |
Reference | PMID:18279784 AUTHORS Hughes IA TITLE Disorders of sex development: a new definition and classification. JOURNAL Best Pract Res Clin Endocrinol Metab 22:119-34 (2008) DOI:10.1016/j.beem.2007.11.001 PMID:11889179 (ODG1) AUTHORS Doherty E, Pakarinen P, Tiitinen A, Kiilavuori A, Huhtaniemi I, Forrest S, Aittomaki K TITLE A Novel mutation in the FSH receptor inhibiting signal transduction and causing primary ovarian failure. JOURNAL J Clin Endocrinol Metab 87:1151-5 (2002) DOI:10.1210/jcem.87.3.8319 PMID:15136966 (ODG2) AUTHORS Di Pasquale E, Beck-Peccoz P, Persani L TITLE Hypergonadotropic ovarian failure associated with an inherited mutation of human bone morphogenetic protein-15 (BMP15) gene. JOURNAL Am J Hum Genet 75:106-11 (2004) DOI:10.1086/422103 PMID:21963259 (ODG3) AUTHORS Zangen D, Kaufman Y, Zeligson S, Perlberg S, Fridman H, Kanaan M, Abdulhadi-Atwan M, Abu Libdeh A, Gussow A, Kisslov I, Carmel L, Renbaum P, Levy-Lahad E TITLE XX ovarian dysgenesis is caused by a PSMC3IP/HOP2 mutation that abolishes coactivation of estrogen-driven transcription. JOURNAL Am J Hum Genet 89:572-9 (2011) DOI:10.1016/j.ajhg.2011.09.006 PMID:26771056 (ODG4) AUTHORS Fauchereau F, Shalev S, Chervinsky E, Beck-Fruchter R, Legois B, Fellous M, Caburet S, Veitia RA TITLE A non-sense MCM9 mutation in a familial case of primary ovarian insufficiency. JOURNAL Clin Genet 89:603-7 (2016) DOI:10.1111/cge.12736 PMID:25774885 (ODG5) AUTHORS Bayram Y, Gulsuner S, Guran T, Abaci A, Yesil G, Gulsuner HU, Atay Z, Pierce SB, Gambin T, Lee M, Turan S, Bober E, Atik MM, Walsh T, Karaca E, Pehlivan D, Jhangiani SN, Muzny D, Bereket A, Buyukgebiz A, Boerwinkle E, Gibbs RA, King MC, Lupski JR TITLE Homozygous loss-of-function mutations in SOHLH1 in patients with nonsyndromic hypergonadotropic hypogonadism. JOURNAL J Clin Endocrinol Metab 100:E808-14 (2015) DOI:10.1210/jc.2015-1150 PMID:26485283 (ODG6) AUTHORS Weinberg-Shukron A, Renbaum P, Kalifa R, Zeligson S, Ben-Neriah Z, Dreifuss A, Abu-Rayyan A, Maatuk N, Fardian N, Rekler D, Kanaan M, Samson AO, Levy-Lahad E, Gerlitz O, Zangen D TITLE A mutation in the nucleoporin-107 gene causes XX gonadal dysgenesis. JOURNAL J Clin Invest 125:4295-304 (2015) DOI:10.1172/JCI83553 PMID:29566152 (ODG7) AUTHORS Chen A, Tiosano D, Guran T, Baris HN, Bayram Y, Mory A, Shapiro-Kulnane L, Hodges CA, Akdemir ZC, Turan S, Jhangiani SN, van den Akker F, Hoppel CL, Salz HK, Lupski JR, Buchner DA TITLE Mutations in the mitochondrial ribosomal protein MRPS22 lead to primary ovarian insufficiency. JOURNAL Hum Mol Genet 27:1913-1926 (2018) DOI:10.1093/hmg/ddy098 PMID:30113650 (ODG8) AUTHORS Lang-Muritano M, Sproll P, Wyss S, Kolly A, Hurlimann R, Konrad D, Biason-Lauber A TITLE Early-Onset Complete Ovarian Failure and Lack of Puberty in a Woman With Mutated Estrogen Receptor beta (ESR2). JOURNAL J Clin Endocrinol Metab 103:3748-3756 (2018) DOI:10.1210/jc.2018-00769 PMID:27967308 (ODG9) AUTHORS Smirin-Yosef P, Zuckerman-Levin N, Tzur S, Granot Y, Cohen L, Sachsenweger J, Borck G, Lagovsky I, Salmon-Divon M, Wiesmuller L, Basel-Vanagaite L TITLE A Biallelic Mutation in the Homologous Recombination Repair Gene SPIDR Is Associated With Human Gonadal Dysgenesis. JOURNAL J Clin Endocrinol Metab 102:681-688 (2017) DOI:10.1210/jc.2016-2714 PMID:34402903 (ODG10) AUTHORS McGlacken-Byrne SM, Le Quesne Stabej P, Del Valle I, Ocaka L, Gagunashvili A, Crespo B, Moreno N, James C, Bacchelli C, Dattani MT, Williams HJ, Kelberman D, Achermann JC, Conway GS TITLE ZSWIM7 Is Associated With Human Female Meiosis and Familial Primary Ovarian Insufficiency. JOURNAL J Clin Endocrinol Metab 107:e254-e263 (2022) DOI:10.1210/clinem/dgab597 |