HYPERSECRETION OF ADRENAL ANDROGENS, FAMILIAL
General Information (adopted from Orphanet):
Synonyms, Signs: |
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Number of Symptoms | 8 |
OrphanetNr: | |
OMIM Id: |
145295
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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:0000141) | Amenorrhea | 16 / 7739 | ||||
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(HPO:0012411) | Premature pubarche | 3 / 7739 | ||||
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(HPO:0002717) | Adrenal overactivity | 1 / 7739 | ||||
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(HPO:0001007) | Hirsutism | 91 / 7739 | ||||
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(OMIM) | Adrenal hyperfunction | 1 / 7739 | ||||
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(HPO:0000006) | Autosomal dominant inheritance | 2518 / 7739 | ||||
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(HPO:0030348) | Increased circulating androgen level | 8 / 7739 | ||||
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(OMIM) | Variably elevated androgen levels | 1 / 7739 |
Associated genes:
ClinVar (via SNiPA)
Gene symbol | Variation | Clinical significance | Reference |
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