PREMATURE OVARIAN FAILURE 2B

General Information (adopted from Orphanet):

Synonyms, Signs: POF2B
Number of Symptoms 5
OrphanetNr:
OMIM Id: 300604
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:0000786) Primary amenorrhea 61 / 7739
2
 (HPO:0008209) Premature ovarian failure obligate [HPO:skoehler] 28 / 7739
3
 (HPO:0000164) Abnormality of the teeth 291 / 7739
4
 (HPO:0000939) Osteoporosis 129 / 7739
5
 (HPO:0000098) Tall stature 74 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Lacombe et al. (2006) described a Lebanese family in which 5 sisters varying in age from 29 to 41 years had POF presenting with primary amenorrhea. In at least 2 of the sisters, osteoporosis and 'dental problems' were ...
Molecular genetics OMIM In 5 affected members of a Lebanese family with POF, Lacombe et al. (2006) identified a point mutation in the candidate gene POF1B (R329Q; 300603.0001) and demonstrated that this mutation disrupts the normal binding of POF1B to nonmuscle ...
Population genetics OMIM Lacombe et al. (2006) estimated the allele frequency of the R329Q variant of POF1B in Lebanon to be 2.2%, giving a predicted rate of homozygosity in that population of 0.048%.