PREMATURE OVARIAN FAILURE 2A
General Information (adopted from Orphanet):
| Synonyms, Signs: |
POF2A |
| Number of Symptoms | 1 |
| OrphanetNr: | |
| OMIM Id: |
300511
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| ICD-10: |
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| UMLs: |
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| MeSH: |
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| MedDRA: |
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| Snomed: |
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Prevalence, inheritance and age of onset:
| Prevalence: | No data available. |
| Inheritance: |
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| Age of onset: |
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Disease classification (adopted from Orphanet):
| Parent Diseases: | No data available. |
Symptom Information:
|
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(HPO:0008209) | Premature ovarian failure | obligate [HPO:skoehler] | 28 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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Additional Information:
| Molecular genetics OMIM |
In a patient with secondary amenorrhea at the age of 17 years, Sala et al. (1997) found a balanced X;12 translocation. Her mother, who carried the same chromosomal rearrangement, was diagnosed with premature menopause at the age of ... |