Hyperinsulinemic Hypoglycemia, Familial, 1 (HHF1)

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OMIM 57 256450 Disease Ontology 12 DOID:0070219 Orphanet 59 ORPHA276575 ORPHA276598 ORPHA79643 ICD10 via Orphanet 34 E16.1

MedGen 42 C2931832 C1257959 KEGG 37 H01267 SNOMED-CT via HPO 69 263681008 258211005 271611007 24199005 161857006 312230002 364538006 415690000 415691001 52613005 398979000 228156007 247578003 91138005 128613002 246545002 313307000 84757009 91175000 214264003 371632003 224958001 267384006 3424008 86651002 237630007 271327008 302866003 52767006 249497008 300359004 422400008 267060006 62315008 80515008 271782001 79519003 399357009 more UMLS 73 C2931832 C3888018

NIH Rare Diseases : ⁵³ Congenital hyperinsulinism is a disease where there are abnormally high levels of insulin, a hormone produced by the beta cells of the pancreas that helps control blood sugar levels. Because of the high levels of insulin, people with this disease have frequent episodes of low blood sugar (hypoglycemia) that can even occur after eating. In babies and young children, these episodes are characterized by a lack of energy (lethargy), irritability, or difficulty feeding. Repeated episodes of low blood sugar increase the risk for serious complications such as breathing difficulties, seizures, intellectual disability, vision loss, brain damage, and coma. The severity and onset of these episodes varies, even among members of the same family. In about 60% of the cases, the episodes start within the first month of life and are very severe and difficult to manage. In other cases, the disease starts in childhood or later, and the symptoms are mild.  Early diagnosis and treatment is important to prevent neurologic damage from hypoglycemia. Congenital hyperinsulinism is caused by mutations in at least 11 different genes, including ABCC8 (responsible for about 45 % of the cases), KCNJ11, GLUD1, GCK, HK1, HADH, HNF4A, HNF1A, SLC16A1, UCP2, and PGM1. Inheritance may be autosomal recessive or autosomal dominant. Some cases are caused by loss of genetic material in a region of chromosome 11 (11p15) that comes from the mother (maternal chromosome). According to the extent of abnormal beta cells,  the disease can be focal (when abnormal beta cells are limited to 1 or a few areas in the pancreas) and diffuse (where the abnormal beta cells are spread throughout the pancreas). The goal of treatment is to manage the hypoglycemia to prevent brain damage. Medications may include diazoxide, octreotide, and glucagon. Surgery to remove part of the pancreas might be required in severe cases.Genetic testing may help to guide the best treatment.

MalaCards based summary : Hyperinsulinemic Hypoglycemia, Familial, 1, also known as persistent hyperinsulinemic hypoglycemia of infancy, is related to hyperinsulinemic hypoglycemia, familial, 2 and beckwith-wiedemann syndrome. An important gene associated with Hyperinsulinemic Hypoglycemia, Familial, 1 is ABCC8 (ATP Binding Cassette Subfamily C Member 8), and among its related pathways/superpathways are Glycolysis / Gluconeogenesis and Fatty acid degradation. Affiliated tissues include brain, pancreas and testes, and related phenotypes are hyperhidrosis and seizures

Disease Ontology : ¹² A hyperinsulinemic hypoglycemia characterized by autosomal recessive inheritance of hyperinsulinemic hypoglycemia that is resistant to diazoxide treatment that has material basis in mutation in the ABCC8 gene on chromosome 11p15.

Genetics Home Reference : ²⁵ Congenital hyperinsulinism is a condition that causes individuals to have abnormally high levels of insulin, which is a hormone that helps control blood sugar levels. People with this condition have frequent episodes of low blood sugar (hypoglycemia). In infants and young children, these episodes are characterized by a lack of energy (lethargy), irritability, or difficulty feeding. Repeated episodes of low blood sugar increase the risk for serious complications such as breathing difficulties, seizures, intellectual disability, vision loss, brain damage, and coma.

OMIM : ⁵⁷ Familial hyperinsulinism, also referred to as congenital hyperinsulinism, nesidioblastosis, or persistent hyperinsulinemic hypoglycemia of infancy (PPHI), is the most common cause of persistent hypoglycemia in infancy and is due to defective negative feedback regulation of insulin secretion by low glucose levels. Unless early and aggressive intervention is undertaken, brain damage from recurrent episodes of hypoglycemia may occur (Thornton et al., 1998). (256450)

UniProtKB/Swiss-Prot : ⁷⁵ Familial hyperinsulinemic hypoglycemia 1: Most common cause of persistent hypoglycemia in infancy. Unless early and aggressive intervention is undertaken, brain damage from recurrent episodes of hypoglycemia may occur.

Wikipedia : ⁷⁶ Congenital hyperinsulinism (CHI) is a medical term referring to a variety of congenital disorders in... more...

Clinical features from OMIM:

256450

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