ORPHA:1501
Adrenocortical carcinoma
Synonyms: ACC
- Type
- Disease
- Group
- Disorder
- Inheritance
- Not applicable
- Age of onset
- Childhood
- Status
- active
A rare malignant adrenal disease characterized by a tumor that arises from the adrenal cortex. The clinical presentation depends on the hormones secreted; in children virilization is a predominant feature; other manifestations can include symptoms of Cushing syndrome or symptoms related to tumor volume or metastases.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Adrenocortical carcinoma | ACC |
| fr | Corticosurrénalome | Carcinome corticosurrénalien |
| de | Adrenokortikales Karzinom | ACC · Nebennierenrinden-Karzinom |
| es | Carcinoma adrenocortical | |
| it | Carcinoma adrenocorticale | = en |
| nl | Bijnierschorscarcinoom | ACC · Adrenocorticaal carcinoom |
| pt | Carcinoma adrenocortical | = en |
| pl | Rak kory nadnerczy | = en |
| cs | Adrenokortikální karcinom | = en |
| uk | Адренокортикальна карцинома | = en |
| zh | 肾上腺皮质癌 | |
| tr | Adrenokortikal karsinom |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 202300 | BTNT | validated | |
| ICD-10 | C74.0 | E | specific | validated |
| ICD-11 | 2D11.Z | NTBT | index | validated |
| MONDO | 0006639 | E | validated | |
| MONDO | 6639 | E | validated | |
| MeSH | D018268 | E | validated | |
| UMLS | C0206686 | E | validated | |
| GARD | 558 | E | validated | |
| MedDRA | 10001388 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
3
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (2):
- ORPHA:100091Adrenal/paraganglial tumor
rare endocrine diseases; rare neoplastic diseases - ORPHA:314749Rare disease with adrenal Cushing syndrome as a major feature
rare endocrine diseases
No children.
4
Genes
7 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| TP53 | Disease-causing germline mutation(s) in | Assessed | HGNC:11998 | ENSG00000141510 | 191170 | 17p13.1 | tumor protein p53 | 11600572[PMID] |
| CDKN2A | Disease-causing somatic mutation(s) in | Assessed | HGNC:1787 | ENSG00000147889 | 600160 | 9p21.3 | cyclin dependent kinase inhibitor 2A | 25490274[PMID] |
| CTNNB1 | Disease-causing somatic mutation(s) in | Assessed | HGNC:2514 | ENSG00000168036 | 116806 | 3p22.1 | catenin beta 1 | 24747642[PMID] |
| PRKAR1A | Disease-causing somatic mutation(s) in | Assessed | HGNC:9388 | ENSG00000108946 | 188830 | 17q24.2 | protein kinase cAMP-dependent type I regulatory subunit alpha | 31147626[PMID] |
| TERT | Disease-causing somatic mutation(s) in | Assessed | HGNC:11730 | ENSG00000164362 | 187270 | 5p15.33 | telomerase reverse transcriptase | 25490274[PMID] |
| TP53 | Disease-causing somatic mutation(s) in | Assessed | HGNC:11998 | ENSG00000141510 | 191170 | 17p13.1 | tumor protein p53 | 25490274[PMID] |
| ZNRF3 | Disease-causing somatic mutation(s) in | Assessed | HGNC:18126 | ENSG00000183579 | 612062 | 22q12.1 | zinc and ring finger 3 | 24747642[PMID] |
5
Prevalence and incidence
25 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | 1-9 / 1 000 000 | 0.75 / 100 000 | Europe | Value and class | Validated | European Medicines Agency[OTHER] |
| Annual incidence | <1 / 1 000 000 | 0.03 / 100 000 | Europe | Value and class | Not yet validated | 22796286[PMID] |
| Annual incidence | <1 / 1 000 000 | 0.082 / 100 000 | Portugal | Value and class | Validated | RARECARE surveillance of rare cancers in Europe[OTHER] |
| Annual incidence | 1-9 / 1 000 000 | 0.173 / 100 000 | Austria | Value and class | Validated | RARECARE surveillance of rare cancers in Europe[OTHER] |
| Annual incidence | 1-9 / 1 000 000 | 0.18 / 100 000 | Belgium | Value and class | Validated | RARECARE surveillance of rare cancers in Europe[OTHER] |
| Annual incidence | 1-9 / 1 000 000 | 0.249 / 100 000 | Bulgaria | Value and class | Validated | RARECARE surveillance of rare cancers in Europe[OTHER] |
| Annual incidence | 1-9 / 1 000 000 | 0.547 / 100 000 | Croatia | Value and class | Validated | RARECARE surveillance of rare cancers in Europe[OTHER] |
| Annual incidence | 1-9 / 1 000 000 | 0.271 / 100 000 | Czech Republic | Value and class | Validated | RARECARE surveillance of rare cancers in Europe[OTHER] |
| Annual incidence | 1-9 / 1 000 000 | 0.314 / 100 000 | Estonia | Value and class | Validated | RARECARE surveillance of rare cancers in Europe[OTHER] |
| Annual incidence | 1-9 / 1 000 000 | 0.225 / 100 000 | Finland | Value and class | Validated | RARECARE surveillance of rare cancers in Europe[OTHER] |
| Annual incidence | 1-9 / 1 000 000 | 0.173 / 100 000 | Germany | Value and class | Validated | RARECARE surveillance of rare cancers in Europe[OTHER] |
| Annual incidence | 1-9 / 1 000 000 | 0.17 / 100 000 | Iceland | Value and class | Validated | RARECARE surveillance of rare cancers in Europe[OTHER] |
| Annual incidence | 1-9 / 1 000 000 | 0.133 / 100 000 | Ireland | Value and class | Validated | RARECARE surveillance of rare cancers in Europe[OTHER] |
| Annual incidence | 1-9 / 1 000 000 | 0.288 / 100 000 | Italy | Value and class | Validated | RARECARE surveillance of rare cancers in Europe[OTHER] |
| Annual incidence | 1-9 / 1 000 000 | 0.514 / 100 000 | Latvia | Value and class | Validated | RARECARE surveillance of rare cancers in Europe[OTHER] |
| Annual incidence | 1-9 / 1 000 000 | 0.464 / 100 000 | Lithuania | Value and class | Validated | RARECARE surveillance of rare cancers in Europe[OTHER] |
| Annual incidence | 1-9 / 1 000 000 | 0.188 / 100 000 | Malta | Value and class | Validated | RARECARE surveillance of rare cancers in Europe[OTHER] |
| Annual incidence | 1-9 / 1 000 000 | 0.226 / 100 000 | Norway | Value and class | Validated | RARECARE surveillance of rare cancers in Europe[OTHER] |
| Annual incidence | 1-9 / 1 000 000 | 0.433 / 100 000 | Poland | Value and class | Validated | RARECARE surveillance of rare cancers in Europe[OTHER] |
| Annual incidence | 1-9 / 1 000 000 | 0.234 / 100 000 | Slovakia | Value and class | Validated | RARECARE surveillance of rare cancers in Europe[OTHER] |
| Annual incidence | 1-9 / 1 000 000 | 0.244 / 100 000 | Slovenia | Value and class | Validated | RARECARE surveillance of rare cancers in Europe[OTHER] |
| Annual incidence | 1-9 / 1 000 000 | 0.215 / 100 000 | Spain | Value and class | Validated | RARECARE surveillance of rare cancers in Europe[OTHER] |
| Annual incidence | 1-9 / 1 000 000 | 0.141 / 100 000 | Switzerland | Value and class | Validated | RARECARE surveillance of rare cancers in Europe[OTHER] |
| Annual incidence | 1-9 / 1 000 000 | 0.167 / 100 000 | Netherlands | Value and class | Validated | RARECARE surveillance of rare cancers in Europe[OTHER] |
| Annual incidence | 1-9 / 1 000 000 | 0.183 / 100 000 | United Kingdom | Value and class | Validated | RARECARE surveillance of rare cancers in Europe[OTHER] |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
6
HPO phenotypes
29 annotations · validated 2017-11-06| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Obligate (100%) | ||
| HP:0006744 | Adrenocortical carcinoma | |
| Frequent (79-30%) | ||
| HP:0002027 | Abdominal pain | |
| HP:0500022 | Abnormal serum dehydroepiandrosterone level | |
| HP:0001939 | Abnormality of metabolism/homeostasis | |
| HP:0000080 | Abnormality of reproductive system physiology | |
| HP:0011748 | Adrenocorticotropic hormone deficiency | |
| HP:0000739 | Anxiety | |
| HP:0000819 | Diabetes mellitus | |
| HP:0025436 | Elevated serum 11-deoxycortisol | |
| HP:0000975 | Hyperhidrosis | |
| HP:0000822 | Hypertension | |
| HP:0000998 | Hypertrichosis | |
| HP:0002900 | Hypokalemia | |
| HP:0004324 | Increased body weight | |
| HP:0000859 | Increased circulating aldosterone concentration | |
| HP:0030348 | Increased circulating androgen concentration | |
| HP:0025380 | Increased circulating androstenedione concentration | |
| HP:0003118 | Increased circulating cortisol level | |
| HP:0025134 | Increased serum estradiol | |
| HP:0012030 | Increased urinary cortisol level | |
| HP:0000737 | Irritability | |
| HP:0030078 | Lung adenocarcinoma | |
| HP:0001324 | Muscle weakness | |
| HP:0001962 | Palpitations | |
| HP:0025269 | Panic attack | |
| HP:0003466 | Paradoxical increased cortisol secretion on dexamethasone suppression test | |
| HP:0001065 | Striae distensae | |
| HP:0001824 | Weight loss | |
| Occasional (29-5%) | ||
| HP:0003110 | Abnormality of urine homeostasis | |
Run the differential on the 1 obligate / very frequent terms
Annotation source: 26191527[PMID]_29087170[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/1501
- This record as JSON: /data/d/1501.json