Descriptors Found: 1
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 1 / 1 DeCS     
Descriptor English:   Congenital Hyperinsulinism 
Descriptor Spanish:   Hiperinsulinismo Congénito 
Descriptor Portuguese:   Hiperinsulinismo Congênito 
Synonyms English:   Congenital Hyperinsulinisms
Familial Hyperinsulinemic Hypoglycemia 1
Familial Hyperinsulinism
Familial Hyperinsulinisms
Hyperinsulinemia Hypoglycemia of Infancy
Hyperinsulinemic Hypoglycemia Due to Focal Adenomatous Hyperplasia
Hyperinsulinemic Hypoglycemia, Familial, 1
Hyperinsulinemic Hypoglycemia, Familial, 2
Hyperinsulinemic Hypoglycemia, Persistent
Hyperinsulinemic Hypoglycemias, Persistent
Hyperinsulinism, Congenital
Hyperinsulinism, Familial
Hyperinsulinism, Neonatal
Hyperinsulinisms, Congenital
Hyperinsulinisms, Familial
Hyperinsulinisms, Neonatal
Hypoglycemia, Hyperinsulinemic, of Infancy
Hypoglycemia, PHHI
Hypoglycemia, Persistent Hyperinsulinemic
Hypoglycemias, PHHI
Hypoglycemias, Persistent Hyperinsulinemic
Infancy Hyperinsulinemia Hypoglycemia
Infancy Hyperinsulinemia Hypoglycemias
Neonatal Hyperinsulinism
Neonatal Hyperinsulinisms
PHHI Hypoglycemia
PHHI Hypoglycemias
Persistent Hyperinsulinemia Hypoglycemia of Infancy
Persistent Hyperinsulinemic Hypoglycemia
Persistent Hyperinsulinemic Hypoglycemias  
Tree Number:   C06.689.150
Definition English:   A familial, nontransient HYPOGLYCEMIA with defects in negative feedback of GLUCOSE-regulated INSULIN release. Clinical phenotypes include HYPOGLYCEMIA; HYPERINSULINEMIA; SEIZURES; COMA; and often large BIRTH WEIGHT. Several sub-types exist with the most common, type 1, associated with mutations on an ATP-BINDING CASSETTE TRANSPORTERS (subfamily C, member 8). 
See Related English:   ATP-Binding Cassette Transporters
Potassium Channels, Inwardly Rectifying
History Note English:   2014(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:   38055 
Unique Identifier:   D044903 

Occurrence in VHL: