OVARIAN DYSGENESIS 1

General Information (adopted from Orphanet):

Synonyms, Signs: XX GONADAL DYSGENESIS
GONADAL DYSGENESIS, XX TYPE
OVARIAN FAILURE, HYPERGONADOTROPIC
OVARIAN DYSGENESIS, HYPERGONADOTROPIC, WITH NORMAL KARYOTYPE
OVARIAN DYSGENESIS, HYPERGONADOTROPIC, AUTOSOMAL RECESSIVE
ODG1
XXGD
Number of Symptoms 5
OrphanetNr:
OMIM Id: 233300
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

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

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0000133) Gonadal dysgenesis 21 / 7739
2
(HPO:0000786) Primary amenorrhea 61 / 7739
3
(HPO:0000837) Increased circulating gonadotropin level 12 / 7739
4
(HPO:0000939) Osteoporosis 129 / 7739
5
(OMIM) Streak gonads 3 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) 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 ...

Clinical Description OMIM Elliott et al. (1959) reported the condition in 3 sisters who had normal stature and sex chromatin but had never menstruated and had severe osteoporosis. The parents were first cousins in the case of the 2 affected sisters ...
Molecular genetics OMIM In the Finnish population in which ovarian dysgenesis with normal XX karyotype is relatively common (approximately 1 in 8,300 females), Aittomaki et al. (1995) demonstrated that affected females are homozygous for a missense mutation in the FSHR gene ...