Congenital Hyperinsulinism [vrozený hyperinzulinismus]

topical
24
Terms

dědičná hyperinzulinemická hypoglykemie 1
dědičná hyperinzulinemická hypoglykemie 2
kongenitální hyperinzulinismus
perzistující hyperinzulinemická hypoglykémie kojenců
perzistující hyperinzulinemická hypoglykémie v dětství

 

Familial Hyperinsulinemic Hypoglycemia 1
Familial Hyperinsulinism
Hyperinsulinemia Hypoglycemia of Infancy
Hyperinsulinemic Hypoglycemia Due to Focal Adenomatous Hyperplasia
Hyperinsulinemic Hypoglycemia, Familial, 1
Hyperinsulinemic Hypoglycemia, Familial, 2
Hyperinsulinemic Hypoglycemia, Persistent
Hyperinsulinism, Congenital
Hyperinsulinism, Familial
Hyperinsulinism, Neonatal
Hypoglycemia, Hyperinsulinemic, of Infancy
Infancy Hyperinsulinemia Hypoglycemia
Neonatal Hyperinsulinism
Persistent Hyperinsulinemia Hypoglycemia of Infancy
Persistent Hyperinsulinemic Hypoglycemia
PHHI Hypoglycemia

Persistent link   https://www.medvik.cz/link/D044903
Definition

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).

DUI
D044903 MeSH Browser
CUI
M0446507
Previous indexing
Chromosomes, Human, Pair 11 (1995-2003); Hyperinsulinism (1977-2003); Hypoglycemia (1977-2003)
History note
2014(2004)
Public note
2014; see PERSISTENT HYPERINSULINEMIA HYPOGLYCEMIA OF INFANCY 2004-2013

C Diseases
C06.689.150.500 Nesidioblastosis 1
C06.689.202 Cystic Fibrosis 1 330
C06.689.388 Pancreas Divisum
C06.689.500 Pancreatic Cyst 91
C06.689.583 Pancreatic Fistula 52
C06.689.667 Pancreatic Neoplasms 1 519
C06.689.750 Pancreatitis 1 351
C16.614.053 Anemia, Neonatal 22
C16.614.092 Asphyxia Neonatorum 173
C16.614.131 Birth Injuries 158
C16.614.166 Colic 125
C16.614.200.500 Nesidioblastosis 1
C16.614.213 Cystic Fibrosis 1 330
C16.614.378 Hernia, Umbilical 45
C16.614.438 Hydrophthalmos 9
C16.614.492 Ichthyosis 62
C16.614.595 Mobius Syndrome 10
C16.614.627 Neonatal Sepsis 35
C16.614.660 OEIS Complex
C16.614.810 Sclerema Neonatorum 2
C16.614.868 Syphilis, Congenital 87
C16.614.947 Wolman Disease 15
C18.452 Metabolic Diseases 1 200
C18.452.394.968 Hyperinsulinism 225
C18.452.394.968.250 Congenital Hyperinsulinism 24
C18.452.394.968.250.500 Nesidioblastosis 1
C18.452.394.968.500 Insulin Resistance 1 962
C18.452.394.984 Hypoglycemia 1 499
C18.452.394.984.200 Congenital Hyperinsulinism 24
C18.452.394.984.200.500 Nesidioblastosis 1
C18.452.394.984.492 Insulin Coma 21