Hyperinsulinemic Hypoglycemia, Familial, 4; Hhf4

Table of contents:

Description
Related genes
Clinical Features
Incidence and onset information
Alternative Names
Researches and researchers
Gene Panels
Sources and references

Genes related to Hyperinsulinemic Hypoglycemia, Familial, 4; Hhf4

HADH

View recommended genes panels

Clinical Features

Phenotypes and symptoms related to Hyperinsulinemic Hypoglycemia, Familial, 4; Hhf4

Intellectual disability
Hypoglycemia
Coma
Neonatal hypoglycemia
Hyperinsulinemic hypoglycemia
Hypoketotic hypoglycemia
Hypoglycemic seizures
Hypoglycemic coma

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.

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, 4; Hhf4 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Fatty Acid Oxidation Deficiency. By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University (United States). SLC22A5, TAZ, LPIN1, SLC25A20, ACAD9, CPT1A, CPT1B, CPT2, ETFA, ETFB, ETFDH, GLUD1, HADH, HSD17B10, HADHA, HADHB, HMGCL, HMGCS2, ACADL, ACADM , (...) View the complete list with 2 more genes Panel complete gene list SLC22A5, TAZ, LPIN1, SLC25A20, ACAD9, CPT1A, CPT1B, CPT2, ETFA, ETFB, ETFDH, GLUD1, HADH, HSD17B10, HADHA, HADHB, HMGCL, HMGCS2, ACADL, ACADM, ACADS, ACADVL Specificity 5 % Genes 100 %
Level 2: Expanded Congenital Hyperinsulinism Panel. By Genetic Diagnostic Laboratory University of Pennsylvania School of Medicine (United States). SLC16A1, GCK, GLUD1, HADH, ABCC8, KCNJ11 Specificity 17 % Genes 100 %
MetaboSeq Fatty Acid Oxidation Disorders Panel by next-generation sequencing (NGS). By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center (United States). SLC22A5, TAZ, SLC25A20, ACAD9, CPT1A, CPT2, ETFA, ETFB, ETFDH, GLUD1, HADH, HSD17B10, HADHA, HADHB, HMGCL, ACADM, ACADS, ACADVL, PPARG Specificity 6 % Genes 100 %
HADH Sequencing. By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center (United States). HADH Specificity 100 % Genes 100 %
MetaboSeq Fatty Acid Oxidation Disorders deletion/duplication panel. By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center (United States). SLC22A5, TAZ, SLC25A20, ACAD9, CPT1A, CPT2, ETFA, ETFB, ETFDH, HADH, HSD17B10, HADHA, HADHB, HMGCL, ACADM, ACADS, ACADVL, PPARG Specificity 6 % Genes 100 %
HADH Deletion/duplication analysis. By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center (United States). HADH Specificity 100 % Genes 100 %
Neonatal Diabetes Mellitus and Maturity-Onset Diabetes of the Young Deletion/Duplication Panel. By Genetic Services Laboratory University of Chicago (United States). BLK, SLC2A2, STAT3, KLF11, WFS1, ZBTB20, NEUROG3, LRBA, CDKN1C, CEL, IER3IP1, ZFP57, RFX6, CP, PTF1A, APPL1, CISD2, TRMT10A, GLIS3, DUT , (...) View the complete list with 21 more genes Panel complete gene list BLK, SLC2A2, STAT3, KLF11, WFS1, ZBTB20, NEUROG3, LRBA, CDKN1C, CEL, IER3IP1, ZFP57, RFX6, CP, PTF1A, APPL1, CISD2, TRMT10A, GLIS3, DUT, EIF2AK3, AIRE, AKT2, GATA4, GATA6, GCK, GLUD1, HADH, MNX1, ABCC8, IL2RA, INS, INSR, FOXP3, PDX1, KCNJ11, NEUROD1, NKX2-2, PAX4, PCBD1, DNAJC3 Specificity 3 % Genes 100 %
Neonatal Diabetes Mellitus and Maturity-Onset Diabetes of the Young Panel. By Genetic Services Laboratory University of Chicago (United States). BLK, SLC2A2, STAT3, KLF11, WFS1, ZBTB20, NEUROG3, LRBA, CDKN1C, CEL, IER3IP1, ZFP57, RFX6, CP, PTF1A, APPL1, CISD2, TRMT10A, GLIS3, DUT , (...) View the complete list with 21 more genes Panel complete gene list BLK, SLC2A2, STAT3, KLF11, WFS1, ZBTB20, NEUROG3, LRBA, CDKN1C, CEL, IER3IP1, ZFP57, RFX6, CP, PTF1A, APPL1, CISD2, TRMT10A, GLIS3, DUT, EIF2AK3, AIRE, AKT2, GATA4, GATA6, GCK, GLUD1, HADH, MNX1, ABCC8, IL2RA, INS, INSR, FOXP3, PDX1, KCNJ11, NEUROD1, NKX2-2, PAX4, PCBD1, DNAJC3 Specificity 3 % Genes 100 %

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Sources and references

You can check the following sources for additional information.

ORPHANET OMIM Rare Disease Symptoms Checker

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