OVARIAN DYSGENESIS 2

General Information (adopted from Orphanet):

Synonyms, Signs: POF4, INCLUDED
OVARIAN DYSGENESIS, HYPERGONADOTROPIC, X-LINKED
OVARIAN FAILURE, HYPERGONADOTROPIC, DUE TO OVARIAN DYSGENESIS PREMATURE OVARIAN FAILURE 4, INCLUDED
ODG2
Number of Symptoms 7
OrphanetNr:
OMIM Id: 300510
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance:
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0000130) Abnormality of the uterus 86 / 7739
2
(HPO:0001587) Primary ovarian failure 9 / 7739
3
(HPO:0008209) Premature ovarian failure 28 / 7739
4
(HPO:0008639) Gonadal hypoplasia 2 / 7739
5
(HPO:0000815) Hypergonadotropic hypogonadism 48 / 7739
6
(HPO:0000786) Primary amenorrhea 61 / 7739
7
(HPO:0001007) Hirsutism 91 / 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). Most cases are associated ...
Clinical Description OMIM Di Pasquale et al. (2004) reported 2 sisters with hypergonadotropic ovarian failure due to ovarian dysgenesis. The proband presented at age 23 with primary amenorrhea and modest hirsutism. She had received a diagnosis of pubertal delay at 15 ...
Molecular genetics OMIM In 2 sisters with hypergonadotropic ovarian failure due to ovarian dysgenesis, Di Pasquale et al. (2004) identified a heterozygous transition in exon 2 of the BMP15 gene resulting in a tyr235-to-cys amino acid substitution (300247.0001). The father was ...