PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 3
General Information (adopted from Orphanet):
| Synonyms, Signs: |
PPNAD3 CUSHING SYNDROME, ADRENAL, DUE TO PPNAD3 |
| Number of Symptoms | 3 |
| OrphanetNr: | |
| OMIM Id: |
614190
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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:0008221) | Adrenal hyperplasia | 24 / 7739 | ||||
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(HPO:0001578) | Hypercortisolism | 17 / 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 |
Horvath et al. (2008) described a young girl who had presented with Cushing syndrome at the age of 2 years. An adrenal computed tomographic scan showed enlargement of both left and right adrenal glands. Pigment granules were found ... |
| Molecular genetics OMIM | In a patient with micronodular adrenocortical hyperplasia leading to Cushing syndrome at the age of 2 years, Horvath et al. (2008) identified a heterozygous missense mutation in the PDE8B gene (603390.0001). |