ORPHA:139411
Carney triad
- Type
- Disease
- Group
- Disorder
- Age of onset
- Adolescent, Adult
- Status
- active
A rare non-hereditary condition characterized by gastrointestinal stromal tumors (GIST, intramural mesenchymal tumors of the gastrointestinal tract with neuronal or neural crest cell origin), pulmonary chondromas and extraadrenal paragangliomas.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Carney triad | |
| fr | Triade de Carney | |
| de | Carney-Trias (Triade) | |
| es | Tríada de Carney | |
| it | Triade di Carney | |
| nl | Carney-triade | |
| pt | Tríade de Carney | |
| pl | Traida Carney'a | |
| cs | Carneyho trias | |
| uk | Тріада Карні | |
| zh | Carney三联病 | |
| tr | Carney üçlüsü |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 604287 | E | validated | |
| ICD-10 | D44.8 | NTBT | attributed | validated |
| ICD-11 | 2F7A.0 | NTBT | index | validated |
| MONDO | 0011424 | E | validated | |
| MeSH | C565803 | E | validated | |
| UMLS | C1858592 | E | validated | |
| GARD | 10924 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (2):
- ORPHA:140162Inherited cancer-predisposing syndrome
rare genetic diseases; rare neoplastic diseases - ORPHA:100094Multiple polyglandular tumor
rare genetic diseases; rare endocrine diseases; rare neoplastic diseases
No children.
4
Genes
3 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| SDHA | Major susceptibility factor in | Assessed | HGNC:10680 | ENSG00000073578 | 600857 | 5p15.33 | succinate dehydrogenase complex flavoprotein subunit A | 26173966[PMID] |
| SDHB | Major susceptibility factor in | Assessed | HGNC:10681 | ENSG00000117118 | 185470 | 1p36.13 | succinate dehydrogenase complex iron sulfur subunit B | 26173966[PMID] |
| SDHC | Major susceptibility factor in | Assessed | HGNC:10682 | ENSG00000143252 | 602413 | 1q23.3 | succinate dehydrogenase complex subunit C | 26173966[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 150 cases | Worldwide | Case(s) | Validated | 23652673[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
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HPO phenotypes
21 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0002027 | Abdominal pain | |
| HP:0002014 | Diarrhea | |
| HP:0012378 | Fatigue | |
| HP:0002239 | Gastrointestinal hemorrhage | |
| HP:0100723 | Gastrointestinal stroma tumor | |
| HP:0100243 | Leiomyosarcoma | |
| HP:0002017 | Nausea and vomiting | |
| HP:0002666 | Pheochromocytoma | |
| Frequent (79-30%) | ||
| HP:0002717 | Adrenal overactivity | |
| HP:0008256 | Adrenocortical adenoma | |
| HP:0001541 | Ascites | |
| HP:0100721 | Mediastinal lymphadenopathy | |
| HP:0002668 | Paraganglioma | |
| HP:0002113 | Pulmonary infiltrates | |
| HP:0001649 | Tachycardia | |
| Occasional (29-5%) | ||
| HP:0001903 | Anemia | |
| HP:0002039 | Anorexia | |
| HP:0011675 | Arrhythmia | |
| HP:0002315 | Headache | |
| HP:0000822 | Hypertension | |
| HP:0002716 | Lymphadenopathy | |
Run the differential on the 8 obligate / very frequent terms
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/139411
- This record as JSON: /data/d/139411.json