Adrenocortical carcinoma
General Information (adopted from Orphanet):
| Synonyms, Signs: |
ADCC ADRENOCORTICAL CARCINOMA, PEDIATRIC, INCLUDED |
| Number of Symptoms | 3 |
| OrphanetNr: | 1501 |
| OMIM Id: |
202300
|
| ICD-10: |
C74.0 E24.8 |
| UMLs: |
C0206686 |
| MeSH: |
D018268 |
| MedDRA: |
10001388 |
| Snomed: |
2227007 |
Prevalence, inheritance and age of onset:
| Prevalence: | 1 of 100 000 [Orphanet] |
| Inheritance: |
Not applicable [Orphanet] |
| Age of onset: |
Childhood [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
ACTH-independent Cushing syndrome
-Rare endocrine disease Adrenal/paraganglial tumor -Rare endocrine disease -Rare oncologic disease Rare cause of hypertension -Rare circulatory system disease -Rare renal disease |
Symptom Information:
|
|
(HPO:0006744) | Adrenocortical carcinoma | 10 / 7739 | ||||
|
|
(MedDRA:10047486) | Virilism | 1 / 7739 | ||||
|
|
(HPO:0000007) | Autosomal recessive inheritance | 2538 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
|---|
Additional Information:
| Description: (OMIM) |
Adrenocortical carcinoma (ADCC) is a rare but aggressive childhood tumor, representing about 0.4% of childhood tumors, with a high incidence of associated tumors. ADCC occurs with increased frequency in patients with the Beckwith-Wiedemann syndrome (130650) and is a ... |
| Molecular genetics OMIM |
Varley (2003) found that over 80% of a cohort of children with ADCC unselected for family history had a germline TP53 (191170) mutation; in addition, all 12 LFS or LFS-like families that they studied in which there was ... |