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).

Clinical Features

Top most frequent phenotypes and symptoms related to Mitochondrial Short-chain Enoyl-coa Hydratase 1 Deficiency; Echs1d

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment
  • Nystagmus
  • Spasticity
  • Ventricular septal defect
  • Hypoplasia of the corpus callosum
  • Cardiomyopathy
  • Dystonia

And another 9 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.

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.


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Mitochondrial Short-chain Enoyl-coa Hydratase 1 Deficiency; Echs1d Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Dystonia Exome Panel.

By Genetic Services Laboratory University of Chicago (United States).

BCS1L, SCN8A, SCP2, SDHA, SGCE, SLC16A2, SLC20A2, SLC2A1, SLC6A3, SLC6A8, SPR, SQSTM1, STXBP1, SUCLA2, SUOX, SURF1, SYNJ1, TAF1, TBCD, TH , (...)

View the complete list with 150 more genes
Specificity
1 %
Genes
100 %
Disorders of Fatty Acid Oxidation Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics (United States).

SLC22A5, TAZ, LPIN1, SLC25A20, ACAD9, CPT1A, CPT2, FLAD1, DECR1, ECHS1, ETFA, ETFB, ETFDH, HADH, HSD17B10, HADHA, HADHB, HMGCL, HMGCS2, MLYCD , (...)

View the complete list with 7 more genes
Specificity
4 %
Genes
100 %
Leigh and Leigh-Like Syndrome Sequencing Panel (Nuclear Genes Only) with CNV Detection.

By PreventionGenetics PreventionGenetics (United States).

BCS1L, SCO2, SUCLA2, SUCLG1, SURF1, TSFM, FBXL4, GFM1, GTPBP3, LRPPRC, NDUFAF5, SLC19A3, LIAS, TPK1, NUBPL, NDUFAF4, SERAC1, FARS2, PDHX, COX10 , (...)

View the complete list with 43 more genes
Specificity
2 %
Genes
100 %
Mitochondrial Oxidative Phosphorylation Deficiency Sequencing Panel (Nuclear Genes Only) with CNV Detection.

By PreventionGenetics PreventionGenetics (United States).

BCS1L, MRPL12, MRPL3, SCO1, SCO2, SDHB, SDHD, SLC25A1, SLC25A3, SLC25A4, SPG7, SUCLA2, SUCLG1, SURF1, TAZ, TWNK, TK2, TSFM, TUFM, UQCRB , (...)

View the complete list with 154 more genes
Specificity
1 %
Genes
100 %
Neurogenetic Disorders - panels.

By MGZ Medical Genetics Center (Germany).

BCS1L, RTN2, RYR1, SACS, SCN1A, SCN1B, SCN2A, SCN8A, SCO1, SCO2, AIMP1, SDHA, SDHB, SDHC, SDHD, SGCE, SLC16A2, SLC17A5, SLC19A2, SLC1A3 , (...)

View the complete list with 572 more genes
Specificity
1 %
Genes
100 %
Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency.

By Centogene AG - the Rare Disease Company (Germany).

ECHS1
Specificity
100 %
Genes
100 %
Single gene testing ECHS1.

By CeGaT GmbH (Germany).

ECHS1
Specificity
100 %
Genes
100 %
ECHS1.

By Fulgent Genetics Fulgent Genetics (United States).

ECHS1
Specificity
100 %
Genes
100 %

We have 4 more panels available in our App

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Sources and references

You can check the following sources for additional information.

OMIM Rare Disease Search Engine

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