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Ovarian dysgenesis 1

Synonyms
Gonadal dysgenesis XX type deafness; Gonadal dysgenesis, XX type; OVARIAN DYSGENESIS, HYPERGONADOTROPIC, AUTOSOMAL RECESSIVE; OVARIAN DYSGENESIS, HYPERGONADOTROPIC, WITH NORMAL KARYOTYPE; OVARIAN FAILURE, HYPERGONADOTROPIC

Summary

Hypergonadotropic ovarian failure is a heterogeneous disorder that, in the most severe forms, is a result of ovarian dysgenesis. Ovarian dysgenesis accounts for about half the cases of primary amenorrhea (Timmreck and Reindollar, 2003). Genetic Heterogeneity of Ovarian Dysgenesis Even in its isolated form, 46,XX ovarian dysgenesis is etiologically heterogeneous. See ODG2 (300510), caused by mutation in the BMP15 gene (300247); ODG3 (614324), caused by mutation in the PSMC3IP gene (608665); ODG4 (616185), caused by mutation in the MCMDC1 gene (610098); ODG5 (617690), caused by mutation in the SOHLH1 gene (610224); ODG6 (618078), caused by mutation in the NUP107 gene (607617); ODG7 (618117), caused by mutation in the MRPS22 gene (605810); ODG8 (618187), caused by mutation in the ESR2 gene (601663); ODG9 (619665), caused by mutation in the SPIDR gene (615384); ODG10 (619834), caused by mutation in the ZSWIM7 gene (614535); and ODG11 (620897), caused by mutation in the HROB gene (618611). See also ovarian dysgenesis with sensorineural deafness, or Perrault syndrome (233400). [from OMIM]

Available tests

22 tests are in the database for this condition.

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Clinical tests (22 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: FSHR1, FSHRO, LGR1, ODG1, FSHR
    Summary: follicle stimulating hormone receptor

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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