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 |
|---|
| 2010 | 0 | 1 | 1 |
| 2013 | 1 | 0 | 1 |
| 2016 | 1 | 0 | 1 |
| 2018 | 1 | 0 | 1 |
| 2020 | 2 | 0 | 2 |
| 2024 | 1 | 0 | 1 |
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Below are the most recent publications written about "Congenital Hyperinsulinism" by people in Profiles.
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A loss-of-function mutation in KCNJ11 causing sulfonylurea-sensitive diabetes in early adult life. Diabetologia. 2024 May; 67(5):940-951.
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Hepatic Dysfunction and Hypoglycemia in a Newborn. Clin Pediatr (Phila). 2020 07; 59(8):834-836.
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Update of variants identified in the pancreatic ß-cell KATP channel genes KCNJ11 and ABCC8 in individuals with congenital hyperinsulinism and diabetes. Hum Mutat. 2020 05; 41(5):884-905.
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Congenital hyperinsulinism as the presenting feature of Kabuki syndrome: clinical and molecular characterization of 9 affected individuals. Genet Med. 2019 01; 21(1):233-242.
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A Novel Mutation (S54C) of the PAX8 Gene in a Family with Congenital Hypothyroidism and a High Proportion of Affected Individuals. Horm Res Paediatr. 2016; 86(2):137-142.
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Type 2 diabetes and congenital hyperinsulinism cause DNA double-strand breaks and p53 activity in ß cells. Cell Metab. 2014 Jan 07; 19(1):109-21.
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Clinical and molecular genetics of neonatal diabetes due to mutations in the insulin gene. Rev Endocr Metab Disord. 2010 Sep; 11(3):205-15.