3-hydroxyacyl-coa Dehydrogenase Deficiency

Clinical Features

Top most frequent phenotypes and symptoms related to 3-hydroxyacyl-coa Dehydrogenase Deficiency

  • Generalized hypotonia
  • Growth delay
  • Cardiomyopathy
  • Encephalopathy
  • Hypoglycemia
  • Hypertrophic cardiomyopathy
  • Feeding difficulties in infancy
  • Dilated cardiomyopathy
  • Hepatic failure
  • Hepatic steatosis

And another 10 symptoms. If you need more information about this disease we can help you.

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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

3-hydroxyacyl-coa Dehydrogenase Deficiency Is also known as hadh deficiency, schad deficiency, formerly.

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.

3-hydroxyacyl-coa Dehydrogenase Deficiency 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
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
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
Specificity
3 %
Genes
100 %

You can get up to 70 more panels with our dedicated tool

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Sources and references

You can check the following sources for additional information.

MESH OMIM Genetic Syndrome Finder

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