ECHS1 gene related symptoms and diseases

All the information presented here about the ECHS1 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: HGNC,ORPHANET,NCBIGENE,OMIM, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to ECHS1 gene

Symptoms // Phenotype % Cases
Seizures Very Common - Between 80% and 100% cases
Increased CSF lactate Very Common - Between 80% and 100% cases
Hearing impairment Very Common - Between 80% and 100% cases
Nystagmus Very Common - Between 80% and 100% cases
Spasticity Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

Patients with ECHS1 gene alterations may also develop some of the following symptoms and phenotypes:
  • Commonly - More than 50% cases

  • Ventricular septal defect
  • Dystonia
  • Apnea
  • Global developmental delay
  • Decreased activity of the pyruvate dehydrogenase complex
  • Increased serum lactate
  • Not very common - Between 30% and 50% cases

  • Intellectual disability, severe
  • Acidosis

And 28 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to ECHS1 gene

Here you will find a list of rare diseases related to the ECHS1. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


MITOCHONDRIAL SHORT-CHAIN ENOYL-COA HYDRATASE 1 DEFICIENCY; ECHS1D


Description

Mitochondrial short-chain enoyl-CoA hydratase-1 deficiency is an autosomal recessive inborn error of metabolism characterized by severely delayed psychomotor development, neurodegeneration, increased lactic acid, and brain lesions in the basal ganglia (summary by Peters et al., 2014).

Most common symptoms of MITOCHONDRIAL SHORT-CHAIN ENOYL-COA HYDRATASE 1 DEFICIENCY; ECHS1D

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment
  • Nystagmus


More info about MITOCHONDRIAL SHORT-CHAIN ENOYL-COA HYDRATASE 1 DEFICIENCY; ECHS1D

SOURCES: OMIM

LEIGH SYNDROME WITH LEUKODYSTROPHY


Alternate names

LEIGH SYNDROME WITH LEUKODYSTROPHY Is also known as leigh disease with leukodystrophy, infantile subacute necrotizing encephalopathy with leukodystrophy

Most common symptoms of LEIGH SYNDROME WITH LEUKODYSTROPHY

  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Nystagmus
  • Failure to thrive


More info about LEIGH SYNDROME WITH LEUKODYSTROPHY

SOURCES: ORPHANET


Potential gene panels for ECHS1 gene

Dystonia Exome Panel Panel

United States.

By Genetic Services Laboratory University of Chicago Dystonia Exome Panel that also includes the following genes: BCS1L SCN8A SCP2 SDHA SGCE SLC16A2 SLC20A2 SLC2A1 SLC6A3 SLC6A8

More info about this panel

Disorders of Fatty Acid Oxidation Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Disorders of Fatty Acid Oxidation Sequencing Panel with CNV Detection that also includes the following genes: SLC22A5 TAZ LPIN1 SLC25A20 ACAD9 CPT1A CPT2 FLAD1 DECR1 ECHS1

More info about this panel

Leigh and Leigh-Like Syndrome Sequencing Panel (Nuclear Genes Only) with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Leigh and Leigh-Like Syndrome Sequencing Panel (Nuclear Genes Only) with CNV Detection that also includes the following genes: BCS1L SCO2 SUCLA2 SUCLG1 SURF1 TSFM FBXL4 GFM1 GTPBP3 LRPPRC

More info about this panel

Mitochondrial Oxidative Phosphorylation Deficiency Sequencing Panel (Nuclear Genes Only) with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Mitochondrial Oxidative Phosphorylation Deficiency Sequencing Panel (Nuclear Genes Only) with CNV Detection that also includes the following genes: BCS1L MRPL12 MRPL3 SCO1 SCO2 SDHB SDHD SLC25A1 SLC25A3 SLC25A4

More info about this panel

Neurogenetic Disorders - panels Panel

Germany.

By MGZ Medical Genetics Center Neurogenetic Disorders - panels that also includes the following genes: BCS1L RTN2 RYR1 SACS SCN1A SCN1B SCN2A SCN8A SCO1 SCO2

More info about this panel

Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the ECHS1 gene.

More info about this panel

Single gene testing ECHS1 Panel

Germany.

By CeGaT GmbH

This panel specifically test the ECHS1 gene.

More info about this panel

ECHS1 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the ECHS1 gene.

More info about this panel

Comprehensive Metabolism Panel Panel

Finland.

By Blueprint Genetics Comprehensive Metabolism Panel that also includes the following genes: BCS1L CNNM2 RYR1 CNNM4 SCN4A SEC23B SGSH SI SLC40A1 SLC12A3

More info about this panel

Fatty Acid Oxidation Syndrome Panel Panel

Finland.

By Blueprint Genetics Fatty Acid Oxidation Syndrome Panel that also includes the following genes: SLC22A5 TAZ LPIN1 SLC25A20 ACAD9 CPT1A CPT2 ECHS1 ETFA ETFB

More info about this panel

Epileptic Encephalopathy Panel Panel

Finland.

By Blueprint Genetics Epileptic Encephalopathy Panel that also includes the following genes: SCN1A SCN1B SCN2A SCN8A SCO1 ST3GAL3 ST3GAL5 SLC25A1 SLC2A1 SLC35A2

More info about this panel

Comprehensive Epilepsy Panel Panel

Finland.

By Blueprint Genetics Comprehensive Epilepsy Panel that also includes the following genes: SCN1A SCN1B SCN2A SCN8A SCN9A SCO1 AIMP1 ST3GAL3 ST3GAL5 SLC25A1

More info about this panel


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