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Disease Profile
Congenital hyperinsulinism
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.
1-9 / 100 000
Age of onset
Childhood
ICD-10
E16.1
Inheritance
Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease.
Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype.
X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.
X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.
Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.
Not applicable
Other names (AKA)
Persistent hyperinsulinemic hypoglycemia of infancy; PHHI; Hyperinsulinemic hypoglycemia familial;
Categories
Congenital and Genetic Diseases
Summary
Congenital hyperinsulinism is caused by
Symptoms
This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.
Related diseases
Related diseases are conditions that have similar signs and symptoms. A health care provider may consider these conditions in the table below when making a diagnosis. Please note that the table may not include all the possible conditions related to this disease.
Conditions with similar signs and symptoms from Orphanet
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Differential diagnosis includes transient hyperinsulinemic hypoglycemia in newborns of mothers with diabetes mellitus or after perinatal stress. Many syndromes present with hypoglycemia: PMM2-CDG and MPI-CDG (congenital disorder of glycosylation Ia and Ib) and the Beckwith-Wiedemann, Perlman, insulin resistance, Sotos, Timothy, Ondine and Usher 1 syndromes. Insulinoma (see these terms) and drug induced hypoglycemia (beta blockers, cibenzoline, and leukocyte growth factors) must be considered in late-onset CHI.
Visit the Orphanet disease page for more information.
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Organizations
Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.
Organizations Supporting this Disease
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Congenital Hyperinsulinism International (CHI)
P.O. Box 135
Glen Ridge, NJ 07028
Telephone: +1-973-544-8372
E-mail: [email protected]
Website: https://congenitalhi.org/
Learn more
These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.
Where to Start
- Genetics Home Reference (GHR) contains information on Congenital hyperinsulinism. This website is maintained by the National Library of Medicine.
In-Depth Information
- GeneReviews provides current, expert-authored, peer-reviewed, full-text articles describing the application of genetic testing to the diagnosis, management, and genetic counseling of patients with specific inherited conditions.
- Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
- The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
- Online Mendelian Inheritance in Man (OMIM) lists the subtypes and associated genes for Congenital hyperinsulinism in a table called Phenotypic Series. Each entry in OMIM includes a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine.
- Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
- PubMed is a searchable database of medical literature and lists journal articles that discuss Congenital hyperinsulinism. Click on the link to view a sample search on this topic.
References
- Congenital hyperinsulinism. Genetics Home Reference. 2014; https://ghr.nlm.nih.gov/condition/familial-hyperinsulinism.
- Glaser B. Familial Hyperinsulinism. Gene Reviews. 2016; https://www.ncbi.nlm.nih.gov/books/NBK1375/.
- Gillespie RS. Congenital Hyperinsulinism Updated. Medscape Reference. December 16, 2015; https://emedicine.medscape.com/article/923538-overview.
- Sunehag A & Haymond MW. Pathogenesis, clinical features, and diagnosis of persistent hyperinsulinemic hypoglycemia of infancy. UpToDate. 2018; https://www.uptodate.com/contents/pathogenesis-clinical-features-and-diagnosis-of-persistent-hyperinsulinemic-hypoglycemia-of-infancy.
- Congenital Hyperinsulinism. National Organization for Rare Diseases (NORD). 2016; https://rarediseases.org/rare-diseases/congenital-hyperinsulinism/.