PREMATURE OVARIAN FAILURE 7
General Information (adopted from Orphanet):
| Synonyms, Signs: |
POF7 |
| Number of Symptoms | 2 |
| OrphanetNr: | |
| OMIM Id: |
612964
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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 | 19246354 | IBIS | 28 / 7739 | ||
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(HPO:0001470) | Sex-limited autosomal dominant | 7 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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Additional Information:
| Molecular genetics OMIM |
Lourenco et al. (2009) identified missense, frameshift, and in-frame mutations in the NR5A1 gene in patients with anomalies of ovarian development and function. Four of the mutations were familial (184757.0011-184757.0014); in each of these families, the same mutation ... |