Ovarian Dysgenesis 1; Odg1

Description

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 DysgenesisEven in its isolated form, 46,XX ovarian dysgenesis is etiologically heterogeneous. See ODG2 (OMIM ), caused by mutation in the BMP15 gene (OMIM ); ODG3 (OMIM ), caused by mutation in the PSMC3IP gene (OMIM ); ODG4 (OMIM ), caused by mutation in the MCMDC1 gene (OMIM ); ODG5 (OMIM ), caused by mutation in the SOHLH1 gene (OMIM ); ODG6 (OMIM ), caused by mutation in the NUP107 gene (OMIM ); and ODG7 (OMIM ), caused by mutation in the MRPS22 gene (OMIM ).See also ovarian dysgenesis with sensorineural deafness, or Perrault syndrome (OMIM ).

Clinical Features

Top most frequent phenotypes and symptoms related to Ovarian Dysgenesis 1; Odg1

  • Hearing impairment
  • Neoplasm
  • Sensorineural hearing impairment
  • Osteoporosis
  • Amenorrhea
  • Primary amenorrhea
  • Clitoral hypertrophy
  • Hypoplasia of the uterus
  • Secondary amenorrhea
  • Gonadal dysgenesis

And another 3 symptoms. If you need more information about this disease we can help you.

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Incidence and onset information

Not enough data available about incidence and published cases.
No data available about the known clinical features onset.

Alternative names

Ovarian Dysgenesis 1; Odg1 Is also known as gonadal dysgenesis, xx type, xxgd, ovarian dysgenesis, hypergonadotropic, with normal karyotype, ovarian dysgenesis, hypergonadotropic, autosomal recessive, ovarian failure, hypergonadotropic, xx gonadal dysgenesis.

Researches and researchers

Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.


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Ovarian Dysgenesis 1; Odg1 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Premature Ovarian Failure Sequencing Panel.

By Genetic Services Laboratory University of Chicago (United States).

BMP15, FOXL2, MCM8, PSMC3IP, HFM1, NOBOX, FIGLA, FSHR, LMNA, NR5A1
Specificity
10 %
Genes
100 %
Premature Ovarian Failure Deletion/Duplication Panel.

By Genetic Services Laboratory University of Chicago (United States).

BMP15, FOXL2, MCM8, PSMC3IP, HFM1, NOBOX, FIGLA, FSHR, LMNA, NR5A1
Specificity
10 %
Genes
100 %
FSHR. Complete sequencing.

By Instituto de Medicina Genomica Instituto de Medicina Genomica (Spain).

FSHR
Specificity
100 %
Genes
100 %
46,XX gonadal dysgenesis (sequence analysis of FSHR gene).

By CGC Genetics (Portugal).

FSHR
Specificity
100 %
Genes
100 %
46,XX gonadal dysgenesis (FSH receptor polymorphisms).

By CGC Genetics (Portugal).

FSHR
Specificity
100 %
Genes
100 %
Ovarian Dysgenesis 1.

By Laboratory of Genetics BioTe21 Adam Master (Poland).

FSHR
Specificity
100 %
Genes
100 %
Ovarian Dysgenesis and Ovarian Hyperstimulation Syndrome via FSHR Gene Sequencing with CNV Detection.

By PreventionGenetics PreventionGenetics (United States).

FSHR
Specificity
100 %
Genes
100 %
Female Infertility Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics (United States).

BMP15, SEMA3A, SEMA3E, FOXL2, SOX10, SOX2, SOX3, SOX9, SRA1, SRD5A2, SRY, STAG3, STAR, TAC3, TACR3, WNT4, WT1, WWOX, ZP1, ARL6 , (...)

View the complete list with 84 more genes
Specificity
1 %
Genes
100 %

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Sources and references

You can check the following sources for additional information.

OMIM Rare Disease Symptoms Checker

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