ACTH-independent Cushing syndrome
General Information (adopted from Orphanet):
Synonyms, Signs:
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Adrenal Cushing syndrome
Corticotropin-independent Cushing syndrome
Adrenocorticotropic hormone-independent Cushing syndrome
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Number of Symptoms
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19
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OrphanetNr:
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99893
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OMIM Id:
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ICD-10:
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E24.8
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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:
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No data available.
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Inheritance:
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Age of onset:
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Disease classification (adopted from Orphanet):
Parent Diseases:
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Cushing syndrome
-Rare endocrine disease
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1
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(HPO:0000787)
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Nephrolithiasis |
Frequent [Orphanet]
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78 / 7739
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2
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(HPO:0000858)
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Menstrual irregularities |
Frequent [Orphanet]
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42 / 7739
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3
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(HPO:0000789)
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Infertility |
Frequent [Orphanet]
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74 / 7739
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4
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(HPO:0000311)
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Round face |
Very frequent [Orphanet]
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104 / 7739
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5
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(HPO:0100851)
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Abnormal emotion/affect behavior |
Frequent [Orphanet]
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85 / 7739
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6
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(HPO:0008221)
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Adrenal hyperplasia |
Very frequent [Orphanet]
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24 / 7739
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7
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(HPO:0000819)
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Diabetes mellitus |
Frequent [Orphanet]
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131 / 7739
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8
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(HPO:0001578)
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Hypercortisolism |
Very frequent [Orphanet]
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17 / 7739
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9
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(HPO:0100641)
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Neoplasm of the adrenal cortex |
Very frequent [Orphanet]
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3 / 7739
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10
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(HPO:0004325)
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Decreased body weight |
Very frequent [Orphanet]
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492 / 7739
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11
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(HPO:0001956)
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Truncal obesity |
Very frequent [Orphanet]
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39 / 7739
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12
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(HPO:0001061)
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Acne |
Frequent [Orphanet]
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33 / 7739
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13
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(HPO:0000978)
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Bruising susceptibility |
Frequent [Orphanet]
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123 / 7739
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14
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(HPO:0001065)
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Striae distensae |
Frequent [Orphanet]
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26 / 7739
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15
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(HPO:0000963)
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Thin skin |
Very frequent [Orphanet]
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96 / 7739
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16
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(HPO:0011362)
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Abnormal hair quantity |
Frequent [Orphanet]
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92 / 7739
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17
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(HPO:0000822)
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Hypertension |
Frequent [Orphanet]
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224 / 7739
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18
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(HPO:0002900)
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Hypokalemia |
Frequent [Orphanet]
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45 / 7739
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19
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(HPO:0001324)
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Muscle weakness |
Frequent [Orphanet]
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859 / 7739
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ClinVar (via SNiPA)
Gene symbol |
Variation |
Clinical significance |
Reference |