Mitochondrial Complex Iii Deficiency, Nuclear Type 8; Mc3dn8

Description

Mitochondrial complex III deficiency, nuclear type 8, is an autosomal recessive disorder characterized by progressive neurodegeneration with onset in childhood. Affected individuals may have normal or delayed early development, and often have episodic acute neurologic decompensation and regression associated with febrile illnesses. The developmental regression results in variable intellectual disability and motor deficits, such as hypotonia, axial hypertonia, and spasticity; some patients may lose the ability to walk independently. Laboratory studies show increased serum lactate and isolated deficiency of mitochondrial complex III in skeletal muscle and fibroblasts. Brain imaging shows a characteristic pattern of multifocal small cystic lesions in the periventricular and deep cerebral white matter (summary by Dallabona et al., 2016).For a discussion of genetic heterogeneity of mitochondrial complex III deficiency, see MC3DN1 (OMIM ).

Clinical Features

Top most frequent phenotypes and symptoms related to Mitochondrial Complex Iii Deficiency, Nuclear Type 8; Mc3dn8

  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Ataxia
  • Nystagmus
  • Failure to thrive
  • Muscle weakness
  • Spasticity
  • Anemia
  • Hyperreflexia

And another 28 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

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Mitochondrial Complex Iii Deficiency, Nuclear Type 8; Mc3dn8 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Mitochondrial Complex III Deficiency via LYRM7 Gene Sequencing with CNV Detection.

By PreventionGenetics PreventionGenetics (United States).

LYRM7
Specificity
100 %
Genes
100 %
Mitochondrial Complex III Deficiency Sequencing Panel with CNV Detection (Nuclear Genes).

By PreventionGenetics PreventionGenetics (United States).

BCS1L, UQCRB, UQCRC2, UQCC2, CYC1, TTC19, LYRM7, UQCRQ, UQCC3
Specificity
12 %
Genes
100 %
Leukodystrophy and Leukoencephalopathy Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics (United States).

SCP2, AIMP1, SDHB, SLC16A2, SLC17A5, SLC25A1, SLC25A12, SLC25A4, SOX10, SPG11, SPG7, SUCLA2, SURF1, TWNK, ACOX1, TREX1, TUFM, TYROBP, WARS2, MCOLN1 , (...)

View the complete list with 135 more genes
Specificity
1 %
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 %
Epilepsy and Mitochondrial Encephalopathy.

By MGZ Medical Genetics Center (Germany).

SCN1A, SCN1B, SCN2A, SCN8A, SCO1, SCO2, SDHA, SDHB, SDHC, SDHD, SGCE, SLC19A2, SLC25A12, SLC25A3, SLC25A4, SLC2A1, SLC6A8, SPG7, SPTAN1, CDKL5 , (...)

View the complete list with 166 more genes
Specificity
1 %
Genes
100 %
Mitochondrial Diseases.

By MGZ Medical Genetics Center (Germany).

BCS1L, SCO1, SCO2, SDHA, SDHB, SDHC, SDHD, SLC19A2, SLC22A5, SLC25A12, SLC25A3, SLC25A4, SLC6A8, SPG7, SUCLA2, SUCLG1, SURF1, TAZ, TWNK, TIMM8A , (...)

View the complete list with 148 more genes
Specificity
1 %
Genes
100 %
Mitochondrial Encephalopathy.

By MGZ Medical Genetics Center (Germany).

BCS1L, SCO1, SCO2, SDHA, SDHB, SDHC, SDHD, SLC19A2, SLC25A12, SLC25A3, SLC25A4, SLC6A8, SPG7, SUCLA2, SUCLG1, SURF1, TAZ, TWNK, TIMM8A, TK2 , (...)

View the complete list with 111 more genes
Specificity
1 %
Genes
100 %

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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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