Mitochondrial Complex V (atp Synthase) Deficiency, Nuclear Type 4; Mc5dn4

Clinical Features

Top most frequent phenotypes and symptoms related to Mitochondrial Complex V (atp Synthase) Deficiency, Nuclear Type 4; Mc5dn4

  • Seizures
  • Nystagmus
  • Encephalopathy
  • Cerebellar hypoplasia
  • Apnea
  • Irritability
  • Pulmonary hypoplasia
  • Renal cyst
  • Primitive reflex
  • Infantile encephalopathy

And another 2 symptoms. If you need more information about this disease we can help you.

Click here to know more about Mendelian.

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

Mitochondrial Complex V (atp Synthase) Deficiency, Nuclear Type 4; Mc5dn4 Is also known as mitochondrial complex v (atp synthase) deficiency, atp5a1 type.

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.

Mitochondrial Complex V (atp Synthase) Deficiency, Nuclear Type 4; Mc5dn4 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Mitochondrial Complex V Deficiency via ATP5F1A (ATP5A1) Gene Sequencing with CNV Detection.

By PreventionGenetics PreventionGenetics (United States).

ATP5F1A
Specificity
100 %
Genes
100 %
Mitochondrial Complex V Deficiency Sequencing Panel with CNV Detection (Nuclear Genes).

By PreventionGenetics PreventionGenetics (United States).

ATPAF2, TMEM70, ATP5F1A, ATP5F1E
Specificity
25 %
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 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 %
Complex V Defect.

By MGZ Medical Genetics Center (Germany).

ATPAF2, TMEM70, ATP5F1A, ATP5F1E
Specificity
25 %
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 %
Combined oxidative phosphorylation deficiency type 22.

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

ATP5F1A
Specificity
100 %
Genes
100 %

You can get up to 3 more panels with our dedicated tool

Learn more

Sources and references

You can check the following sources for additional information.

OMIM Genetic Syndrome Finder

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