PREMATURE OVARIAN FAILURE 6

General Information (adopted from Orphanet):

Synonyms, Signs: POF6
Number of Symptoms 2
OrphanetNr:
OMIM Id: 612310
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 18499083 IBIS 28 / 7739
2
(HPO:0001470) Sex-limited autosomal dominant 7 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Molecular genetics OMIM Zhao et al. (2008) analyzed the FIGLA gene in 100 Chinese women with premature ovarian failure and identified a 22-bp deletion (608697.0001) and a 3-bp in-frame deletion (140delN; 608697.0002) in 2 patients, respectively. The mutations were not found ...