OVARIAN DYSGENESIS 3

General Information (adopted from Orphanet):

Synonyms, Signs: ODG3
Number of Symptoms 11
OrphanetNr:
OMIM Id: 614324
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0000786) Primary amenorrhea 61 / 7739
2
(HPO:0003187) Breast hypoplasia 17 / 7739
3
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739
4
(OMIM) Androgen levels normal 1 / 7739
5
(OMIM) Pubic hair underdeveloped 1 / 7739
6
(OMIM) Luteinizing hormone levels elevated 1 / 7739
7
(OMIM) Follicle-stimulating hormone levels elevated 1 / 7739
8
(OMIM) Ovarian dysgenesis 7 / 7739
9
(MedDRA:10063146) Uterine hypoplasia 3 / 7739
10
(OMIM) Progesterone undetectable 1 / 7739
11
(OMIM) Estradiol undetectable 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Zangen et al. (2011) studied a large consanguineous Arab Palestinian pedigree in which at least 5 females were affected with complete XX gonadal dysgenesis. The proband failed to develop spontaneous puberty and at 15 years of age, breast ...
Molecular genetics OMIM In a large consanguineous Arab Palestinian pedigree with hypergonadotropic ovarian dysgenesis mapping to chromosome 17, Zangen et al. (2011) analyzed candidate genes and identified homozygosity for a 3-bp deletion in the PSMC3IP gene (608665.0001) that segregated with disease ...