46,XY partial gonadal dysgenesis
General Information (adopted from Orphanet):
| Synonyms, Signs: |
46,XY PGD 46,XY partial testicular dysgenesis |
| Number of Symptoms | 9 |
| OrphanetNr: | 251510 |
| OMIM Id: |
154230
300018 612965 613762 615542 |
| ICD-10: |
Q56.1 |
| 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 Autosomal recessive X-linked recessive Y-linked [Orphanet] |
| Age of onset: |
Neonatal Infancy [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
46,XY disorder of gonadal development
-Rare developmental defect during embryogenesis -Rare endocrine disease -Rare genetic disease -Rare urogenital disease Gonadal dysgenesis of gynecological interest -Rare genetic disease -Rare gynecologic or obstetric disease |
Symptom Information:
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(HPO:0000133) | Gonadal dysgenesis | Very frequent [Orphanet] | 21 / 7739 | |||
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(HPO:0000054) | Micropenis | Very frequent [Orphanet] | 257 / 7739 | |||
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(HPO:0000047) | Hypospadias | Very frequent [Orphanet] | 250 / 7739 | |||
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(HPO:0010788) | Testicular neoplasm | Occasional [Orphanet] | 10 / 7739 | |||
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(HPO:0000062) | Ambiguous genitalia | Very frequent [Orphanet] | 74 / 7739 | |||
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(HPO:0100615) | Ovarian neoplasm | Occasional [Orphanet] | 25 / 7739 | |||
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(HPO:0010458) | Female pseudohermaphroditism | Very frequent [Orphanet] | 17 / 7739 | |||
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(HPO:0000035) | Abnormality of the testis | Very frequent [Orphanet] | 296 / 7739 | |||
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(HPO:0008207) | Primary adrenal insufficiency | Occasional [Orphanet] | 26 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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