Congenital Hyperinsulinism
"Congenital Hyperinsulinism" is a descriptor in the National Library of Medicine's controlled vocabulary thesaurus,
MeSH (Medical Subject Headings). Descriptors are arranged in a hierarchical structure,
which enables searching at various levels of specificity.
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).
| Descriptor ID |
D044903
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| MeSH Number(s) |
C06.689.150 C16.614.200 C18.452.394.968.250 C18.452.394.984.200
|
| Concept/Terms |
Congenital Hyperinsulinism- Congenital Hyperinsulinism
- Congenital Hyperinsulinisms
- Hyperinsulinisms, Congenital
- Hyperinsulinemia Hypoglycemia of Infancy
- Infancy Hyperinsulinemia Hypoglycemias
- Hyperinsulinemic Hypoglycemia, Persistent
- Hyperinsulinemic Hypoglycemias, Persistent
- Hypoglycemia, Persistent Hyperinsulinemic
- Hypoglycemias, Persistent Hyperinsulinemic
- Persistent Hyperinsulinemic Hypoglycemias
- Hyperinsulinism, Congenital
- Hyperinsulinism, Familial
- Familial Hyperinsulinisms
- Hyperinsulinisms, Familial
- PHHI Hypoglycemia
- Hypoglycemia, PHHI
- Hypoglycemias, PHHI
- PHHI Hypoglycemias
- Hypoglycemia, Hyperinsulinemic, of Infancy
- Infancy Hyperinsulinemia Hypoglycemia
- Neonatal Hyperinsulinism
- Persistent Hyperinsulinemia Hypoglycemia of Infancy
- Persistent Hyperinsulinemic Hypoglycemia
- Familial Hyperinsulinism
- Hyperinsulinism, Neonatal
- Hyperinsulinisms, Neonatal
- Neonatal Hyperinsulinisms
|
Below are MeSH descriptors whose meaning is more general than "Congenital Hyperinsulinism".
Below are MeSH descriptors whose meaning is more specific than "Congenital Hyperinsulinism".
This graph shows the total number of publications written about "Congenital Hyperinsulinism" by people in this website by year, and whether "Congenital Hyperinsulinism" was a major or minor topic of these publications.
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| Year | Major Topic | Minor Topic | Total |
|---|
| 2015 | 1 | 0 | 1 |
| 2019 | 1 | 0 | 1 |
| 2022 | 1 | 0 | 1 |
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click here.
Below are the most recent publications written about "Congenital Hyperinsulinism" by people in Profiles.
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Danowitz M, De Leon DD. The Role of GLP-1 Signaling in Hypoglycemia due to Hyperinsulinism. Front Endocrinol (Lausanne). 2022; 13:863184.
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Grand K, Gonzalez-Gandolfi C, Ackermann AM, Aljeaid D, Bedoukian E, Bird LM, De Leon DD, Diaz J, Hopkin RJ, Kadakia SP, Keena B, Klein KO, Krantz I, Leon E, Lord K, McDougall C, Medne L, Skraban CM, Stanley CA, Tarpinian J, Zackai E, Deardorff MA, Kalish JM. Hyperinsulinemic hypoglycemia in seven patients with de novo NSD1 mutations. Am J Med Genet A. 2019 04; 179(4):542-551.
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Gripp KW, Robbins KM, Sheffield BS, Lee AF, Patel MS, Yip S, Doyle D, Stabley D, Sol-Church K. Paternal uniparental disomy 11p15.5 in the pancreatic nodule of an infant with Costello syndrome: Shared mechanism for hyperinsulinemic hypoglycemia in neonates with Costello and Beckwith-Wiedemann syndrome and somatic loss of heterozygosity in Costello syndrome driving clonal expansion. Am J Med Genet A. 2016 Mar; 170(3):559-64.