Hyperinsulinemic hypoglycemia, familial, 1

Preferred Label : Hyperinsulinemic hypoglycemia, familial, 1;

Symbol : HHF1;

CISMeF acronym : HHF1; PHHI;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Nesidioblastosis of pancreas; Hypoglycemia, hyperinsulinemic, of infancy; Hyperinsulinemic hypoglycemia due to focal adenomatous hyperplasia; Hyperinsulinism, familial, with pancreatic nesidioblastosis; Persistent hyperinsulinemic hypoglycemia of infancy; PHHI; Hyperinsulinism, congenital;

Description : 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). - Genetic Heterogeneity of Hyperinsulinemic Hypoglycemia HHF2 (601820) is caused by mutation in the KCNJ11 gene (600937), on chromosome 11p15.1. HHF3 (602485) is caused by mutation in the glucokinase gene (GCK; 138079) on chromosome 7p15-p13. HHF4 (609975) is caused by mutation in the HADH gene (601609) on chromosome 4q22-q26. HHF5 (609968) is caused by mutation in the insulin receptor gene (INSR; 147670) on chromosome 19p13.2. HHF6 (606762) is caused by mutation in the GLUD1 gene (138130) on chromosome 10q23.3. HHF7 (610021) is caused by mutation in the SLC16A1 (600682) on chromosome 1p13.2-p12. There is evidence of further genetic heterogeneity of HHF.;

Inheritance : Autosomal dominant; Autosomal recessive;

Molecular basis : Caused by mutation in the ATP-binding cassette, subfamily C, member 8 gene (ABCC8, 600509.0001);

Laboratory abnormalities : Hypoglycemia; Hyperinsulinemia;

Prefixed ID : #256450;

Details

Origin ID

256450;

UMLS CUI

C2931832;

Automatic exact mappings (from CISMeF team)
- ATP binding cassette subfamily C member 8 [ORDO Gene]
- ATP binding cassette subfamily C member 8 [HGNC gene]
- Autosomal recessive hyperinsulinism due to SUR1 deficiency [ORDO Disease]
- Diazoxide-resistant focal hyperinsulinism due to SUR1 deficiency [ORDO Disease]
- Diffuse hyperinsulinism [ICD-11 More detail]
Broader ORDO disease(s)
- Congenital isolated hyperinsulinism [ORDO Disease]
Currated CISMeF NLP mapping
- Congenital Hyperinsulinism [NCIt concept]
- Congenital isolated hyperinsulinism [ORDO Disease]
- Hyperinsulinism due to focal adenomatous hyperplasia (disorder) [SNOMED CT concept]
- Nesidioblastosis [NCIt concept]
- Persistent Hyperinsulinemic Hypoglycemia of Infancy [NCIt concept]
- Persistent hyperinsulinaemic hypoglycaemia of infancy [ICD-11 Category]
- Persistent hyperinsulinemic hypoglycemia of infancy (disorder) [SNOMED CT concept]
- congenital hyperinsulinism [MeSH Descriptor]
- congenital hyperinsulinism [MeSH concept]
- familial hyperinsulinemic hypoglycemia 1 [DO Concept]
- familial hyperinsulinemic hypoglycemia 1 [MeSH concept]
- nesidioblastosis [MeSH Descriptor]
- nesidioblastosis [MeSH concept]
- persistent hyperinsulinemia hypoglycemia of infancy [Disease (Nov.)]
DO Cross reference
- familial hyperinsulinemic hypoglycemia 1 [DO Concept]
Genes related to phenotype
- Atp-binding cassette, subfamily C, member 8 [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Autosomal recessive inheritance [HPO term]
- Heterogeneous [HPO term]
- Hyperinsulinemic hypoglycemia [HPO term]
- Hypoglycemic coma [HPO term]
- Hypoglycemic seizures [HPO term]
- Intellectual disability [HPO term]
- Islet cell hyperplasia, diffuse [HPO term]
- Large for gestational age [HPO term]
- Pancreatic islet-cell hyperplasia [HPO term]
ORDO concept(s)
- Autosomal dominant hyperinsulinism due to SUR1 deficiency [ORDO Disease]
- Autosomal recessive hyperinsulinism due to SUR1 deficiency [ORDO Disease]
- Diazoxide-resistant focal hyperinsulinism due to SUR1 deficiency [ORDO Disease]
See also inter- (CISMeF)
- Autosomal dominant hyperinsulinism due to SUR1 deficiency [ORDO Disease]
- familial hyperinsulinemic hypoglycemia 2 [DO Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Diazoxide-resistant focal hyperinsulinism [ORDO Disease]
- familial hyperinsulinemic hypoglycemia 1 [MeSH concept]
- familial hyperinsulinemic hypoglycemia 1 [DO Concept]

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