Carney triad
General Information (adopted from Orphanet):
Synonyms, Signs: |
GASTRIC LEIOMYOSARCOMA, PULMONARY CHONDROMA, AND EXTRAADRENAL PARAGANGLIOMA |
Number of Symptoms | 20 |
OrphanetNr: | 139411 |
OMIM Id: |
604287
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ICD-10: |
D44.8 |
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: | 150 cases [Orphanet] |
Inheritance: |
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Age of onset: |
Adolescent Adult [Orphanet] |
Disease classification (adopted from Orphanet):
Parent Diseases: |
Multiple polyglandular tumor
-Rare endocrine disease -Rare genetic disease -Rare oncologic disease |
Symptom Information:
|
(HPO:0100634) | Neuroendocrine neoplasm | Very frequent [Orphanet] | 8 / 7739 | |||
|
(HPO:0002315) | Headache | Occasional [Orphanet] | 175 / 7739 | |||
|
(HPO:0008221) | Adrenal hyperplasia | Frequent [Orphanet] | 24 / 7739 | |||
|
(HPO:0002014) | Diarrhea | Very frequent [Orphanet] | 225 / 7739 | |||
|
(HPO:0002239) | Gastrointestinal hemorrhage | Very frequent [Orphanet] | 97 / 7739 | |||
|
(HPO:0001396) | Cholestasis | Frequent [Orphanet] | 136 / 7739 | |||
|
(HPO:0006753) | Neoplasm of the stomach | Very frequent [Orphanet] | 13 / 7739 | |||
|
(HPO:0001541) | Ascites | Frequent [Orphanet] | 94 / 7739 | |||
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(HPO:0002039) | Anorexia | Occasional [Orphanet] | 62 / 7739 | |||
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(HPO:0002017) | Nausea and vomiting | Very frequent [Orphanet] | 134 / 7739 | |||
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(HPO:0002027) | Abdominal pain | Very frequent [Orphanet] | 184 / 7739 | |||
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(HPO:0000822) | Hypertension | Occasional [Orphanet] | 224 / 7739 | |||
|
(HPO:0011675) | Arrhythmia | Occasional [Orphanet] | 226 / 7739 | |||
|
(HPO:0001903) | Anemia | Occasional [Orphanet] | 289 / 7739 | |||
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(HPO:0100526) | Neoplasm of the lung | Very frequent [Orphanet] | 26 / 7739 | |||
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(HPO:0100242) | Sarcoma | Very frequent [Orphanet] | 27 / 7739 | |||
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(HPO:0002664) | Neoplasm | Very frequent [Orphanet] | 111 / 7739 | |||
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(HPO:0002716) | Lymphadenopathy | Occasional [Orphanet] | 129 / 7739 | |||
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(HPO:0001324) | Muscle weakness | Very frequent [Orphanet] | 859 / 7739 | |||
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(HPO:0045026) | Abnormality of the mediastinum | Frequent [Orphanet] | 6 / 7739 |
Associated genes:
ClinVar (via SNiPA)
Gene symbol | Variation | Clinical significance | Reference |
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