PREMATURE OVARIAN FAILURE 1

General Information (adopted from Orphanet):

Synonyms, Signs: HYPERGONADOTROPIC OVARIAN FAILURE, X-LINKED
OVARIAN FAILURE, PREMATURE
PREMATURE OVARIAN FAILURE, X-LINKED
POF1
POFX
POF
Number of Symptoms 6
OrphanetNr:
OMIM Id: 311360
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:0008209) Premature ovarian failure 28 / 7739
2
(HPO:0000858) Menstrual irregularities 42 / 7739
3
(HPO:0000837) Increased circulating gonadotropin level 12 / 7739
4
(HPO:0001939) Abnormality of metabolism/homeostasis 328 / 7739
5
(HPO:0001417) X-linked inheritance 173 / 7739
6
(OMIM) Estrogen deficiency 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Premature ovarian failure is clearly a heterogeneous disorder. The terms 'hypergonadotropic ovarian failure' and 'hypergonadotropic ovarian dysgenesis' (see ODG1, 233300) have been used to indicate a group of disorders in which amenorrhea associated with elevated levels of serum ...
Clinical Description OMIM Although the average age of menarche decreased during the 20th century, the mean age of menopause appears to be invariant with time and race and occurs at approximately 50 years. Premature ovarian failure can be defined as secondary ...
Molecular genetics OMIM Murray et al. (1999) screened a cohort of 209 women with POF for FMR1 premutations and found that 9 had greater than 50 trinucleotide repeats (309550.0004). In addition, they screened this cohort for mutations in FRAXE (309548) and ...