Cushing syndrome
General Information (adopted from Orphanet):
Synonyms, Signs: |
Hyperadrenocorticism Hypercortisolism Cushing' s syndrome |
Number of Symptoms | 91 |
OrphanetNr: | 553 |
OMIM Id: |
|
ICD-10: |
E24 |
UMLs: |
C0001622 C0010481 |
MeSH: |
D000308 D003480 |
MedDRA: |
10011652 10020562 10020564 10020610 |
Snomed: |
275437005 47270006 |
Prevalence, inheritance and age of onset:
Prevalence: | 6.5 [Orphanet] |
Inheritance: |
[Orphanet] |
Age of onset: |
All ages [Orphanet] |
Disease classification (adopted from Orphanet):
Parent Diseases: |
Rare adrenal disease
-Rare endocrine disease |
Comment:
Symptom Information:
|
(HPO:0000103) | Polyuria | Occasional [Orphanet] | 60 / 7739 | |||
|
(HPO:0100519) | Anuria | Occasional [Orphanet] | 20 / 7739 | |||
|
(HPO:0012211) | Abnormal renal physiology | Occasional [Orphanet] | 23 / 7739 | |||
|
(HPO:0000869) | Secondary amenorrhea | Occasional [Orphanet] | 42 / 7739 | |||
|
(HPO:0100520) | Oliguria | Occasional [Orphanet] | 14 / 7739 | |||
|
(HPO:0000132) | Menorrhagia | Frequent [Orphanet] | 40 / 7739 | |||
|
(HPO:0000789) | Infertility | Frequent [Orphanet] | 74 / 7739 | |||
|
(HPO:0100805) | Precocious menopause | Occasional [Orphanet] | 4 / 7739 | |||
|
(HPO:0100518) | Dysuria | Occasional [Orphanet] | 8 / 7739 | |||
|
(HPO:0000787) | Nephrolithiasis | Frequent [Orphanet] | 78 / 7739 | |||
|
(HPO:0100639) | Erectile abnormalities | Very frequent [Orphanet] | 15 / 7739 | |||
|
(HPO:0100515) | Pollakisuria | Occasional [Orphanet] | 12 / 7739 | |||
|
(HPO:0000144) | Decreased fertility | Frequent [Orphanet] | 11 / 7739 | |||
|
(HPO:0200023) | Priapism | Very frequent [Orphanet] | 4 / 7739 | |||
|
(HPO:0000802) | Impotence | Very frequent [Orphanet] | 20 / 7739 | |||
|
(HPO:0100608) | Metrorrhagia | Frequent [Orphanet] | 5 / 7739 | |||
|
(HPO:0100607) | Dysmenorrhea | Frequent [Orphanet] | 8 / 7739 | |||
|
(HPO:0000311) | Round face | Very frequent [Orphanet] | 104 / 7739 | |||
|
(HPO:0000518) | Cataract | Occasional [Orphanet] | 454 / 7739 | |||
|
(HPO:0001259) | Coma | Occasional [Orphanet] | 65 / 7739 | |||
|
(HPO:0001289) | Confusion | Occasional [Orphanet] | 36 / 7739 | |||
|
(HPO:0007302) | Bipolar affective disorder | Occasional [Orphanet] | 15 / 7739 | |||
|
(HPO:0003473) | Fatigable weakness | Frequent [Orphanet] | 39 / 7739 | |||
|
(HPO:0000741) | Apathy | Frequent [Orphanet] | 42 / 7739 | |||
|
(HPO:0004372) | Reduced consciousness/confusion | Occasional [Orphanet] | 73 / 7739 | |||
|
(HPO:0100753) | Schizophrenia | Occasional [Orphanet] | 20 / 7739 | |||
|
(HPO:0000739) | Anxiety | Frequent [Orphanet] | 67 / 7739 | |||
|
(HPO:0000737) | Irritability | Frequent [Orphanet] | 93 / 7739 | |||
|
(HPO:0002329) | Drowsiness | Occasional [Orphanet] | 19 / 7739 | |||
|
(HPO:0000709) | Psychosis | Occasional [Orphanet] | 61 / 7739 | |||
|
(HPO:0001254) | Lethargy | Occasional [Orphanet] | 104 / 7739 | |||
|
(HPO:0000716) | Depression | Frequent [Orphanet] | 99 / 7739 | |||
|
(HPO:0002360) | Sleep disturbance | Occasional [Orphanet] | 113 / 7739 | |||
|
(HPO:0008652) | Autonomic erectile dysfunction | Very frequent [Orphanet] | 3 / 7739 | |||
|
(HPO:0008221) | Adrenal hyperplasia | Occasional [Orphanet] | 24 / 7739 | |||
|
(HPO:0100631) | Neoplasm of the adrenal gland | Occasional [Orphanet] | 5 / 7739 | |||
|
(HPO:0000819) | Diabetes mellitus | Frequent [Orphanet] | 131 / 7739 | |||
|
(HPO:0001578) | Hypercortisolism | Very frequent [Orphanet] | 17 / 7739 | |||
|
(HPO:0002748) | Rickets | Frequent [Orphanet] | 41 / 7739 | |||
|
(HPO:0002749) | Osteomalacia | Frequent [Orphanet] | 24 / 7739 | |||
|
(HPO:0002659) | Increased susceptibility to fractures | Frequent [Orphanet] | 110 / 7739 | |||
|
(HPO:0010885) | Aseptic necrosis | Occasional [Orphanet] | 24 / 7739 | |||
|
(HPO:0000939) | Osteoporosis | Frequent [Orphanet] | 129 / 7739 | |||
|
(HPO:0006462) | Generalized bone demineralization | Frequent [Orphanet] | 11 / 7739 | |||
|
(HPO:0000938) | Osteopenia | Frequent [Orphanet] | 138 / 7739 | |||
|
(HPO:0002757) | Recurrent fractures | Frequent [Orphanet] | 47 / 7739 | |||
|
(HPO:0004349) | Reduced bone mineral density | Frequent [Orphanet] | 165 / 7739 | |||
|
(HPO:0002592) | Gastric ulcer | Occasional [Orphanet] | 39 / 7739 | |||
|
(HPO:0011968) | Feeding difficulties | Very frequent [Orphanet] | 240 / 7739 | |||
|
(HPO:0004295) | Abnormality of the gastric mucosa | Occasional [Orphanet] | 4 / 7739 | |||
|
(HPO:0002588) | Duodenal ulcer | Occasional [Orphanet] | 15 / 7739 | |||
|
(HPO:0005263) | Gastritis | Occasional [Orphanet] | 9 / 7739 | |||
|
(HPO:0002027) | Abdominal pain | Occasional [Orphanet] | 184 / 7739 | |||
|
(HPO:0011848) | Abdominal colic | Occasional [Orphanet] | 8 / 7739 | |||
|
(HPO:0001956) | Truncal obesity | Very frequent [Orphanet] | 39 / 7739 | |||
|
(HPO:0001508) | Failure to thrive | Very frequent [Orphanet] | 454 / 7739 | |||
|
(HPO:0001510) | Growth delay | Very frequent [Orphanet] | 295 / 7739 | |||
|
(HPO:0000998) | Hypertrichosis | Frequent [Orphanet] | 52 / 7739 | |||
|
(HPO:0000967) | Petechiae | Frequent [Orphanet] | 26 / 7739 | |||
|
(HPO:0000979) | Purpura | Frequent [Orphanet] | 27 / 7739 | |||
|
(HPO:0001009) | Telangiectasia | Occasional [Orphanet] occasional [HPO] | 46 / 7739 | |||
|
(HPO:0000963) | Thin skin | Very frequent [Orphanet] | 96 / 7739 | |||
|
(HPO:0001065) | Striae distensae | Frequent [Orphanet] | 26 / 7739 | |||
|
(HPO:0007552) | Abnormal subcutaneous fat tissue distribution | Very frequent [Orphanet] | 12 / 7739 | |||
|
(HPO:0100585) | Telangiectasia of the skin | Occasional [Orphanet] | 66 / 7739 | |||
|
(HPO:0001007) | Hirsutism | Frequent [Orphanet] typical [HPO] | 91 / 7739 | |||
|
(HPO:0001061) | Acne | Frequent [Orphanet] | 33 / 7739 | |||
|
(HPO:0004554) | Generalized hypertrichosis | Frequent [Orphanet] typical [HPO] | 30 / 7739 | |||
|
(HPO:0002230) | Generalized hirsutism | Frequent [Orphanet] typical [HPO] | 32 / 7739 | |||
|
(HPO:0000978) | Bruising susceptibility | Frequent [Orphanet] | 123 / 7739 | |||
|
(HPO:0000822) | Hypertension | Frequent [Orphanet] | 224 / 7739 | |||
|
(HPO:0001639) | Hypertrophic cardiomyopathy | Occasional [Orphanet] | 137 / 7739 | |||
|
(HPO:0001644) | Dilated cardiomyopathy | Occasional [Orphanet] | 141 / 7739 | |||
|
(HPO:0002155) | Hypertriglyceridemia | Occasional [Orphanet] | 67 / 7739 | |||
|
(HPO:0002900) | Hypokalemia | Frequent [Orphanet] | 45 / 7739 | |||
|
(HPO:0003228) | Hypernatremia | Occasional [Orphanet] | 12 / 7739 | |||
|
(HPO:0003072) | Hypercalcemia | Occasional [Orphanet] | 36 / 7739 | |||
|
(HPO:0003077) | Hyperlipidemia | Occasional [Orphanet] | 37 / 7739 | |||
|
(HPO:0003124) | Hypercholesterolemia | Occasional [Orphanet] | 53 / 7739 | |||
|
(HPO:0003119) | Abnormality of lipid metabolism | Occasional [Orphanet] | 60 / 7739 | |||
|
(HPO:0002721) | Immunodeficiency | Frequent [Orphanet] | 97 / 7739 | |||
|
(HPO:0002718) | Recurrent bacterial infections | Frequent [Orphanet] | 75 / 7739 | |||
|
(HPO:0002719) | Recurrent infections | Frequent [Orphanet] | 107 / 7739 | |||
|
(HPO:0010978) | Abnormality of immune system physiology | Frequent [Orphanet] | 148 / 7739 | |||
|
(HPO:0001252) | Muscular hypotonia | Frequent [Orphanet] typical [HPO] | 990 / 7739 | |||
|
(HPO:0003198) | Myopathy | Occasional [Orphanet] | 151 / 7739 | |||
|
(HPO:0001324) | Muscle weakness | Frequent [Orphanet] | 859 / 7739 | |||
|
(HPO:0010547) | Muscle flaccidity | Frequent [Orphanet] | 466 / 7739 | |||
|
(HPO:0009124) | Abnormality of adipose tissue | Very frequent [Orphanet] | 5 / 7739 | |||
|
(HPO:0009125) | Lipodystrophy | Very frequent [Orphanet] | 54 / 7739 | |||
|
(HPO:0009064) | Generalized lipodystrophy | Very frequent [Orphanet] | 17 / 7739 |
Associated genes:
ClinVar (via SNiPA)
Gene symbol | Variation | Clinical significance | Reference |
---|