Structured Summary
Abstract
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).
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Synonyms
30 entry terms
- Familial Hyperinsulinism
- Hyperinsulinemia Hypoglycemia of Infancy
- Hyperinsulinemic Hypoglycemia, Persistent
- Hyperinsulinism, Congenital
- Hyperinsulinism, Familial
- Hyperinsulinism, Neonatal
- Hypoglycemia, Hyperinsulinemic, of Infancy
- Infancy Hyperinsulinemia Hypoglycemia
- Neonatal Hyperinsulinism
- PHHI Hypoglycemia
- Persistent Hyperinsulinemia Hypoglycemia of Infancy
- Persistent Hyperinsulinemic Hypoglycemia
- Congenital Hyperinsulinisms
- Familial Hyperinsulinisms
- Hyperinsulinemic Hypoglycemias, Persistent
- Hyperinsulinisms, Congenital
- Hyperinsulinisms, Familial
- Hyperinsulinisms, Neonatal
- Hypoglycemia, PHHI
- Hypoglycemia, Persistent Hyperinsulinemic
- Hypoglycemias, PHHI
- Hypoglycemias, Persistent Hyperinsulinemic
- Infancy Hyperinsulinemia Hypoglycemias
- Neonatal Hyperinsulinisms
- PHHI Hypoglycemias
- Persistent Hyperinsulinemic Hypoglycemias
- Familial Hyperinsulinemic Hypoglycemia 1
- Hyperinsulinemic Hypoglycemia Due to Focal Adenomatous Hyperplasia
- Hyperinsulinemic Hypoglycemia, Familial, 1
- Hyperinsulinemic Hypoglycemia, Familial, 2
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Aspects Covered
34 allowable subheadings
Indexed with the subheadings blood, cerebrospinal fluid, chemically induced, classification, complications, diagnosis, diagnostic imaging, diet therapy, drug therapy, economics, embryology, enzymology, epidemiology, ethnology, etiology, genetics, history, immunology, metabolism, microbiology, mortality, nursing, parasitology, pathology, physiopathology, prevention & control, psychology, radiotherapy, rehabilitation, surgery, therapy, urine, veterinary, virology.
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History Note
2014(2004)
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Previous Indexing
- Chromosomes, Human, Pair 11 (1995-2003)
- Hyperinsulinism (1977-2003)
- Hypoglycemia (1977-2003)
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References
- National Library of Medicine. Congenital Hyperinsulinism. Medical Subject Headings (MeSH). 2026. Unique ID D044903. http://id.nlm.nih.gov/mesh/2026/D044903
- Congenital Hyperinsulinism. In: Wikipedia. https://en.wikipedia.org/wiki/Congenital_hyperinsulinism
- Congenital Hyperinsulinism. In: Wikidata. https://www.wikidata.org/wiki/Q5160437