Cushing syndrome due to ectopic ACTH secretion
General Information (adopted from Orphanet):
Synonyms, Signs: |
Ectopic ACTH secreting tumor Ectopic Cushing syndrome Adrenocorticotropic hormone secretion syndrome Occult ectopic ACTH secretion Paraneoplastic Cushing syndrome |
Number of Symptoms | 27 |
OrphanetNr: | 99889 |
OMIM Id: |
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ICD-10: |
E24.3 |
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: |
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Age of onset: |
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Disease classification (adopted from Orphanet):
Parent Diseases: |
ACTH-dependent Cushing syndrome
-Rare endocrine disease |
Symptom Information:
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(HPO:0000858) | Menstrual irregularities | Frequent [Orphanet] | 42 / 7739 | |||
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(HPO:0000789) | Infertility | Frequent [Orphanet] | 74 / 7739 | |||
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(HPO:0000787) | Nephrolithiasis | Frequent [Orphanet] | 78 / 7739 | |||
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(HPO:0000311) | Round face | Frequent [Orphanet] | 104 / 7739 | |||
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(HPO:0100851) | Abnormal emotion/affect behavior | Frequent [Orphanet] | 85 / 7739 | |||
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(HPO:0100634) | Neuroendocrine neoplasm | Frequent [Orphanet] | 8 / 7739 | |||
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(HPO:0011750) | Neoplasm of the anterior pituitary | Very frequent [Orphanet] | 6 / 7739 | |||
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(HPO:0100031) | Neoplasm of the thyroid gland | Frequent [Orphanet] | 15 / 7739 | |||
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(HPO:0000819) | Diabetes mellitus | Frequent [Orphanet] | 131 / 7739 | |||
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(HPO:0002659) | Increased susceptibility to fractures | Frequent [Orphanet] | 110 / 7739 | |||
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(HPO:0004349) | Reduced bone mineral density | Very frequent [Orphanet] | 165 / 7739 | |||
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(HPO:0002014) | Diarrhea | Occasional [Orphanet] | 225 / 7739 | |||
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(HPO:0004325) | Decreased body weight | Occasional [Orphanet] | 492 / 7739 | |||
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(HPO:0001956) | Truncal obesity | Frequent [Orphanet] | 39 / 7739 | |||
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(HPO:0000953) | Hyperpigmentation of the skin | Occasional [Orphanet] | 75 / 7739 | |||
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(HPO:0000978) | Bruising susceptibility | Very frequent [Orphanet] | 123 / 7739 | |||
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(HPO:0001061) | Acne | Frequent [Orphanet] | 33 / 7739 | |||
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(HPO:0011362) | Abnormal hair quantity | Frequent [Orphanet] | 92 / 7739 | |||
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(HPO:0000963) | Thin skin | Very frequent [Orphanet] | 96 / 7739 | |||
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(HPO:0001065) | Striae distensae | Very frequent [Orphanet] | 26 / 7739 | |||
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(HPO:0100735) | Hypertensive crisis | Occasional [Orphanet] | 9 / 7739 | |||
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(HPO:0000822) | Hypertension | Very frequent [Orphanet] | 224 / 7739 | |||
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(HPO:0002900) | Hypokalemia | Very frequent [Orphanet] | 45 / 7739 | |||
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(HPO:0100526) | Neoplasm of the lung | Frequent [Orphanet] | 26 / 7739 | |||
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(HPO:0100521) | Neoplasm of the thymus | Frequent [Orphanet] | 7 / 7739 | |||
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(HPO:0010978) | Abnormality of immune system physiology | Frequent [Orphanet] | 148 / 7739 | |||
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(HPO:0001324) | Muscle weakness | Very frequent [Orphanet] | 859 / 7739 |
Associated genes:
ClinVar (via SNiPA)
Gene symbol | Variation | Clinical significance | Reference |
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