Hyperandrogenism due to cortisone reductase deficiency
General Information (adopted from Orphanet):
| Synonyms, Signs: |
11-beta-hydroxysteroid dehydrogenase deficiency type 1 |
| Number of Symptoms | 0 |
| OrphanetNr: | 168588 |
| OMIM Id: |
604931
614662 |
| ICD-10: |
E25.8 |
| 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 recessive |
| Age of onset: |
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Disease classification (adopted from Orphanet):
| Parent Diseases: |
AARSKOG SYNDROME, AUTOSOMAL DOMINANT
-AARSKOG SYNDROME, AUTOSOMAL DOMINANT Adrenogenital syndrome -Rare endocrine disease -Rare genetic disease Anomaly of puberty or/and menstrual cycle -Rare gynecologic or obstetric disease Anomaly of puberty or/and menstrual cycle of genetic origin -Rare genetic disease |
Comment:
| This term does not characterize a disease but a group of diseases. Annotations can be found at a more specific level. |
Symptom Information:
Associated genes:
| H6PD; HSD11B1; |
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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