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Descriptor English: Congenital Hyperinsulinism
Descriptor Spanish: Hiperinsulinismo Congénito
Descriptor hiperinsulinismo congénito
Entry term(s) hipoglucemia con hiperinsulinemia persistente del lactante
hipoglucemia hiperinsulinémica persistente de la infancia
hipoglucemia hiperinsulinémica persistente del lactante
Scope note: HIPOGLUCEMIA familiar no transitoria, con defectos en la retroalimentación negativa de liberación de INSULINA regulada por GLUCOSA. Entre los fenotipos clínicos se incluyen: HIPOGLUCEMIA, HIPERINSULINEMIA, CRISIS CONVULSIVAS, COMA y, a menudo, gran PESO AL NACER. Existen diversos subtipos, el más común el tipo 1, que se asocia a mutaciones en los TRANSPORTADORES DE CASETE DE UNIÓN A ATP (subfamilia C, miembro 8).
Descriptor Portuguese: Hiperinsulinismo Congênito
Descriptor French: Hyperinsulinisme congénital
Entry term(s): 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(s): C06.689.150
C16.614.200
C18.452.394.968.250
C18.452.394.984.200
RDF Unique Identifier: https://id.nlm.nih.gov/mesh/D044903
Scope note: 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).
Allowable Qualifiers: BL blood
CF cerebrospinal fluid
CI chemically induced
CL classification
CO complications
DG diagnostic imaging
DH diet therapy
DI diagnosis
DT drug therapy
EC economics
EH ethnology
EM embryology
EN enzymology
EP epidemiology
ET etiology
GE genetics
HI history
IM immunology
ME metabolism
MI microbiology
MO mortality
NU nursing
PA pathology
PC prevention & control
PP physiopathology
PS parasitology
PX psychology
RH rehabilitation
RT radiotherapy
SU surgery
TH therapy
UR urine
VE veterinary
VI virology
Previous Indexing: Chromosomes, Human, Pair 11 (1995-2003)
Hyperinsulinism (1977-2003)
Hypoglycemia (1977-2003)
Public MeSH Note: 2014; see PERSISTENT HYPERINSULINEMIA HYPOGLYCEMIA OF INFANCY 2004-2013
History Note: 2014(2004)
Related: ATP-Binding Cassette Transporters MeSH
Potassium Channels, Inwardly Rectifying MeSH
DeCS ID: 38055
Unique ID: D044903
Documents indexed in the Virtual Health Library (VHL): Click here to access the VHL documents
Date Established: 2004/01/01
Date of Entry: 2003/07/09
Revision Date: 2013/07/08
Congenital Hyperinsulinism - Preferred
Concept UI M0446507
Scope note 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).
Preferred term Congenital Hyperinsulinism
Entry term(s) Congenital Hyperinsulinisms
Familial Hyperinsulinism
Familial Hyperinsulinisms
Hyperinsulinemia Hypoglycemia of Infancy
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
Hyperinsulinemic Hypoglycemia, Familial, 2 - Narrower
Concept UI M0532834
Preferred term Hyperinsulinemic Hypoglycemia, Familial, 2
Familial Hyperinsulinemic Hypoglycemia 1 - Narrower
Concept UI M0570812
Preferred term Familial Hyperinsulinemic Hypoglycemia 1
Entry term(s) Hyperinsulinemic Hypoglycemia Due to Focal Adenomatous Hyperplasia
Hyperinsulinemic Hypoglycemia, Familial, 1



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