KEGG DISEASE: Ovarian dysgenesis

DISEASE: Ovarian dysgenesis

Entry

H00599                      Disease

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

Brite

Human diseases in ICD-11 classification [BR:br08403]
20 Developmental anomalies
  Structural developmental anomalies primarily affecting one body system
   Structural developmental anomalies of the female genital system
    LB45  Structural developmental anomalies of ovaries, fallopian tubes or broad ligaments
     H00599  Ovarian dysgenesis
Pathway-based classification of diseases [BR:br08402]
Replication and repair
  nt06508  Interstrand crosslink repair
   H00599  Ovarian dysgenesis
Signal transduction
  nt06507  TGFB signaling
   H00599  Ovarian dysgenesis

Network

nt06507 TGFB signaling
nt06508 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]

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

Reference

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

Reference

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

Reference

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

Reference

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

Reference

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

Reference

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

Reference

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

Reference

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

Reference

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

Reference

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

LinkDB

» Japanese version

DBGET integrated database retrieval system