Search on: MINERALOCORTICOID EXCESS SYNDROME, APPARENT 
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Descriptor English:   Mineralocorticoid Excess Syndrome, Apparent 
Descriptor Spanish:   Síndrome de Exceso Aparente de Mineralocorticoides 
Descriptor Portuguese:   Síndrome de Excesso Aparente de Minerolocorticoides 
Synonyms English:   Apparent Mineralocorticoid Excess Syndrome  
Tree Number:   C16.320.565.925.500
C18.452.648.925.500
Definition English:   A hereditary disease characterized by childhood onset HYPERTENSION, hypokalemic alkalosis, and low RENIN and ALDOSTERONE secretion. It results from a defect in the activity of the 11-BETA-HYDROXYSTEROID DEHYDROGENASE TYPE 2 enzyme which results in inadequate conversion of CORTISOL to CORTISONE. The build up of unprocessed cortisol to levels that stimulate MINERALOCORTICOID RECEPTORS creates the appearance of having excessive MINERALOCORTICOIDS. 
History Note English:   2004 
Allowable Qualifiers English:  
BL blood CF cerebrospinal fluid
CI chemically induced CL classification
CO complications DI diagnosis
DG diagnostic imaging DH diet therapy
DT drug therapy EC economics
EM embryology EN enzymology
EP epidemiology EH ethnology
ET etiology GE genetics
HI history IM immunology
ME metabolism MI microbiology
MO mortality NU nursing
PS parasitology PA pathology
PP physiopathology PC prevention & control
PX psychology RT radiotherapy
RH rehabilitation SU surgery
TH therapy UR urine
VE veterinary VI virology
Record Number:   38057 
Unique Identifier:   D043204 

Occurrence in VHL:
 

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