ACTH-dependent Cushing syndrome
General Information (adopted from Orphanet):
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Synonyms, Signs:
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ACTH-dependent CS
Corticotropin-dependent Cushing syndrome
Adrenocorticotropic hormone-dependent Cushing syndrome
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Number of Symptoms
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20
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OrphanetNr:
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99892
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OMIM Id:
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ICD-10:
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E24.0
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UMLs:
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C0342442
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MeSH:
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MedDRA:
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Snomed:
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237734007
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Prevalence, inheritance and age of onset:
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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):
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Parent Diseases:
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Cushing syndrome
-Rare endocrine disease
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1
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(HPO:0000789)
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Infertility |
Frequent [Orphanet]
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74 / 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:0000787)
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Nephrolithiasis |
Frequent [Orphanet]
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78 / 7739
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4
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(HPO:0000311)
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Round face |
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:0000819)
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Diabetes mellitus |
Frequent [Orphanet]
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131 / 7739
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7
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(HPO:0011750)
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Neoplasm of the anterior pituitary |
Very frequent [Orphanet]
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6 / 7739
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8
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(HPO:0004349)
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Reduced bone mineral density |
Frequent [Orphanet]
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165 / 7739
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9
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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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10
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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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11
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(HPO:0001061)
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Acne |
Frequent [Orphanet]
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33 / 7739
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12
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(HPO:0000953)
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Hyperpigmentation of the skin |
Frequent [Orphanet]
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75 / 7739
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13
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(HPO:0001065)
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Striae distensae |
Very frequent [Orphanet]
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26 / 7739
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14
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(HPO:0000978)
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Bruising susceptibility |
Very frequent [Orphanet]
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123 / 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:0000822)
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Hypertension |
Frequent [Orphanet]
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224 / 7739
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17
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(HPO:0002900)
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Hypokalemia |
Frequent [Orphanet]
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45 / 7739
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18
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(HPO:0010978)
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Abnormality of immune system physiology |
Frequent [Orphanet]
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148 / 7739
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19
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(HPO:0001324)
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Muscle weakness |
Very frequent [Orphanet]
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859 / 7739
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20
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(HPO:0009125)
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Lipodystrophy |
Frequent [Orphanet]
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54 / 7739
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ClinVar (via SNiPA)
| Gene symbol |
Variation |
Clinical significance |
Reference |