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 Minerolocorticóides 
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
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
RA radiography RI radionuclide imaging
RT radiotherapy RH rehabilitation
SU surgery TH therapy
US ultrasonography UR urine
VE veterinary VI virology
Record Number:   38057 
Unique Identifier:   D043204 

Occurrence in VHL: 		 

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