46,XY SEX REVERSAL 5
General Information (adopted from Orphanet):
| Synonyms, Signs: |
SEX REVERSAL, XY, CBX2-RELATED DISORDER OF SEX DEVELOPMENT, 46,XY, CBX2-RELATED 46,XY GONADAL DYSGENESIS, COMPLETE, CBX2-RELATED 46,XY SEX REVERSAL, CBX2-RELATED SRXY5 |
| Number of Symptoms | 2 |
| OrphanetNr: | |
| OMIM Id: |
613080
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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: |
Autosomal dominant inheritance [Omim] |
| Age of onset: |
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Disease classification (adopted from Orphanet):
| Parent Diseases: | No data available. |
Symptom Information:
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(HPO:0012245) | Sex reversal | 13 / 7739 | ||||
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(HPO:0000006) | Autosomal dominant inheritance | 2518 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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Additional Information:
| Clinical Description OMIM |
Biason-Lauber et al. (2009) reported a child who, despite prenatally determined 46,XY karyotype, presented at birth as a phenotypically normal female. The karyotype was confirmed antenatally. She had low testosterone at 2 years of age that failed to ... |
| Molecular genetics OMIM |
In a patient with 46,XY karyotype and normal female phenotype, Biason-Lauber et al. (2009) excluded mutations in the SRY (480000) and SOX9 (608160) genes. Sequencing of the CBX2 gene showed 2 missense mutations, pro98 to leu (602770.0001) and ... |