Hyperinsulinemic Hypoglycemia, Familial, 1; Hhf1
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).
Genes related to Hyperinsulinemic Hypoglycemia, Familial, 1; Hhf1
- ABCC8
Clinical Features
Top most frequent phenotypes and symptoms related to Hyperinsulinemic Hypoglycemia, Familial, 1; Hhf1
- Intellectual disability
- Neoplasm
- Diabetes mellitus
- Hypoglycemia
- Coma
- Syncope
- Type II diabetes mellitus
- Hyperammonemia
- Hyperinsulinemia
- Hyperglycemia
And another 11 symptoms. If you need more information about this disease we can help you.
Incidence and onset information
— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)— No data available about the known clinical features onset.
Alternative names
Hyperinsulinemic Hypoglycemia, Familial, 1; Hhf1 Is also known as persistent hyperinsulinemic hypoglycemia of infancy, hyperinsulinism, congenital, hyperinsulinemic hypoglycemia due to focal adenomatous hyperplasia, hypoglycemia, hyperinsulinemic, of infancy, hyperinsulinism, familial, with pancreatic nesidioblastosis, phhi, .
Researches and researchers
Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.Hyperinsulinemic Hypoglycemia, Familial, 1; Hhf1 Recommended genes panels
Panel Name, Specifity and genes Tested/covered |
---|
GeneAware Complete Panel Version 2 (Female).
By Baylor Miraca Genetics Laboratories (United States).
RMRP, BCS1L, SACS, BLM, SGCA, SGCB, SGCG, SGSH, SLC12A6, SLC17A5, SLC22A5, SLC25A13, SLC25A15, SLC26A2, SLC35A3, SLC7A7, SMN1, SMPD1, BTD, BTK , (...)
View the complete list with 139 more genes
Specificity
1 %
Genes
100 % |
GeneAware Complete Panel Version 2 (Male).
By Baylor Miraca Genetics Laboratories (United States).
RMRP, BCS1L, SACS, BLM, SGCA, SGCB, SGCG, SGSH, SLC12A6, SLC17A5, SLC22A5, SLC25A13, SLC25A15, SLC26A2, SLC35A3, SLC7A7, SMN1, SMPD1, BTD, TGM1 , (...)
View the complete list with 129 more genes
Specificity
1 %
Genes
100 % |
GeneAware Ashkenazi Jewish Panel Version 2 (Female).
By Baylor Miraca Genetics Laboratories (United States).
BLM, SLC35A3, SMN1, SMPD1, CLRN1, MCOLN1, PCDH15, RTEL1, CFTR, SUMF1, DHDDS, ADAMTS2, COL4A3, CPT2, TMEM216, DHCR7, DLD, DMD, FAH, FANCC , (...)
View the complete list with 19 more genes
Specificity
3 %
Genes
100 % |
GeneAware Ashkenazi Jewish Panel Version 2 (Male).
By Baylor Miraca Genetics Laboratories (United States).
BLM, SLC35A3, SMN1, SMPD1, CLRN1, MCOLN1, PCDH15, RTEL1, CFTR, SUMF1, DHDDS, ADAMTS2, COL4A3, CPT2, TMEM216, DHCR7, DLD, FAH, FANCC, FKTN , (...)
View the complete list with 17 more genes
Specificity
3 %
Genes
100 % |
Congenital Hyperinsulinism Evaluation.
By Athena Diagnostics Inc (United States).
GCK, GLUD1, ABCC8, KCNJ11
Specificity
25 %
Genes
100 % |
Neonatal Diabetes Mellitus Evaluation.
By Athena Diagnostics Inc (United States).
GCK, ABCC8, INS, PDX1, KCNJ11
Specificity
20 %
Genes
100 % |
ABCC8 (NDM) DNA Sequencing Test.
By Athena Diagnostics Inc (United States).
ABCC8
Specificity
100 %
Genes
100 % |
ABCC8 (CH) DNA Sequencing Test.
By Athena Diagnostics Inc (United States).
ABCC8
Specificity
100 %
Genes
100 % |
You can get up to 105 more panels with our dedicated tool
Learn moreSources and references
You can check the following sources for additional information.
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