Mitochondrial Complex Iv Deficiency

Description

Complex IV (cytochrome c oxidase; {EC 1.9.3.1}) is the terminal enzyme of the respiratory chain and consists of 13 polypeptide subunits, 3 of which are encoded by mitochondrial DNA. The 3 mitochondrially encoded proteins in the cytochrome oxidase complex are the actual catalytic subunits that carry out the electron transport function (Saraste, 1983). See {123995} for discussion of some of the nuclear-encoded subunits.Shoubridge (2001) provided a comprehensive review of cytochrome c oxidase deficiency and noted that most isolated COX deficiencies are inherited as autosomal recessive disorders caused by mutations in nuclear-encoded genes; mutations in the mtDNA-encoded COX subunit genes are relatively rare.

Clinical Features

Top most frequent phenotypes and symptoms related to Mitochondrial Complex Iv Deficiency

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Pica
  • Microcephaly
  • Scoliosis
  • Ataxia
  • Growth delay
And another 83 symptoms. If you need more information about this disease we can help you.
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Incidence and onset information

Not enough data available about incidence and published cases.


Mendelian

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Mitochondrial Complex Iv Deficiency Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Mitochondrial diseases.

By Center for Human Genetics, Inc in United States.

MT-ATP6, MT-ND1, MT-ND6, MT-ND4, MT-RNR1, MT-CYB, MT-ND2, MT-CO2, MT-ND5, MT-CO1, MT-RNR2, MT-CO3, MT-ND3, MT-ATP8
Specificity
22 %
Genes
18 %
Comprehensive Mitochondrial Metabolic Panel.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University in United States.

MCCC1, MCCC2, AARS2, ACACA, ACAD9, ACADL, ACADM, AGL, ACADVL, ACAT1, YARS2, PC, GYS2, UQCRQ, ARG1, UQCRB, HLCS, ATP5F1E, BTD, ATPAF2 , (...)

View the complete list with 176 more genes
Specificity
5 %
Genes
48 %
Mitochondrial Genome Sequence.

By Molecular Genetics Laboratory London Health Sciences Centre in Canada.

MT-TL1, MT-TK, MT-ATP6, MT-ND1, MT-ND6, MT-ND4, MT-TS1, MT-TS2, MT-RNR1, MT-CYB, MT-ND2, MT-CO2, MT-ND5, MT-CO1, MT-RNR2, MT-CO3, MT-ND3, MT-ATP8, MT-TT, MT-TP , (...)

View the complete list with 17 more genes
Specificity
9 %
Genes
18 %
Mitochondrial Disorders (mtDNA) Sequencing.

By ARUP Laboratories, Molecular Genetics and Genomics in United States.

MT-TL1, MT-TK, MT-ATP6, MT-TS1, MT-TS2, MT-CYB, MT-ND2, MT-CO2, MT-ND5, MT-CO1, MT-RNR2, MT-CO3, MT-ND3, MT-ATP8, MT-TT, MT-TP, MT-TG, MT-TI, MT-TN, MT-ND4L , (...)

View the complete list with 13 more genes
Specificity
10 %
Genes
18 %
Mitochondrial Disorders Panel (mtDNA Sequencing, Nuclear Genes Sequencing, and Deletion/Duplication).

By ARUP Laboratories, Molecular Genetics and Genomics in United States.

MCCC2, ACAD9, ACADL, ACADM, ACADS, ACADVL, ACAT1, PC, UQCRQ, UQCRB, ATPAF2, BCKDHA, BCKDHB, BCS1L, TWNK, CPT2, OPA1, TRMU, WFS1, DLD , (...)

View the complete list with 132 more genes
Specificity
5 %
Genes
42 %
MTCO1. Complete sequencing.

By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain.

MT-CO1
Specificity
100 %
Genes
6 %
MT-CO1. Complete sequencing.

By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain.

MT-CO1
Specificity
100 %
Genes
6 %
Leber optic atrophy (sequence analysis of MTCO1 gene).

By CGC Genetics in Portugal.

MT-CO1
Specificity
100 %
Genes
6 %
Mental retardation - different panels.

By Institute of Human Genetics Cologne University in Germany.

FMR1, UBE3A, PTEN, MCCC1, MCCC2, ACAD9, PC, ANKH, HLCS, ATP7A, AUH, B4GALT7, BCKDHA, BCKDHB, BCS1L, C12orf65, ADSL, MMACHC, PRKCG, PAX6 , (...)

View the complete list with 847 more genes
Specificity
1 %
Genes
36 %
Hearing Loss/Deafness Multi-Gene Panels.

By MGZ Medical Genetics Center in Germany.

MT-TS1, PRPS1, MT-RNR1, MT-CO1
Specificity
25 %
Genes
6 %
Leber optic atrophy.

By Centogene AG - the Rare Disease Company in Germany.

MT-CO1
Specificity
100 %
Genes
6 %
Leber optic atrophy.

By Centogene AG - the Rare Disease Company in Germany.

MT-CO1
Specificity
100 %
Genes
6 %
Mitochondrial genome panel.

By Centogene AG - the Rare Disease Company in Germany.

MT-TL1, MT-TK, MT-ATP6, MT-ND1, MT-ND6, MT-ND4, MT-TS1, MT-TS2, MT-RNR1, MT-CYB, MT-ND2, MT-CO2, MT-ND5, MT-CO1, MT-RNR2, MT-CO3, MT-ND3, MT-ATP8, MT-TT, MT-TP , (...)

View the complete list with 17 more genes
Specificity
9 %
Genes
18 %
Nuclear encoded Mitochondriopathies Panel.

By CeGaT GmbH in Germany.

MCCC1, MCCC2, AARS2, ACAD9, ACADM, ACADS, ACADVL, ACAT1, YARS2, FBP1, PC, UQCRQ, UQCRB, HLCS, ATP5F1E, BTD, ATPAF2, AUH, BCKDHA, BCKDHB , (...)

View the complete list with 263 more genes
Specificity
4 %
Genes
65 %
mtDNA encoded Mitochondriopathies Panel.

By CeGaT GmbH in Germany.

MT-TL1, MT-TK, MT-ATP6, MT-ND1, MT-ND6, MT-ND4, MT-TS1, MT-TS2, MT-RNR1, MT-CYB, MT-ND2, MT-CO2, MT-ND5, MT-CO1, MT-RNR2, MT-CO3, MT-ND3, MT-ATP8, MT-TT, MT-TP , (...)

View the complete list with 17 more genes
Specificity
9 %
Genes
18 %
Mitochondrial complex IV deficiency.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain.

COX14, SCO2, COX15, SURF1, FASTKD2, COX6B1, TACO1, MT-TS1, MT-CO2, MT-CO1, MT-CO3, COX10, SCO1, MT-TN
Specificity
65 %
Genes
53 %
Mitochondrial Genome NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

MT-TL1, MT-TK, MT-ATP6, MT-ND1, MT-ND6, MT-ND4, MT-TS1, MT-TS2, MT-RNR1, MT-CYB, MT-ND2, MT-CO2, MT-ND5, MT-CO1, MT-RNR2, MT-CO3, MT-ND3, MT-ATP8, MT-TT, MT-TP , (...)

View the complete list with 17 more genes
Specificity
9 %
Genes
18 %
Mitochondrial nonsyndromic sensorineural deafness.

By Bioarray in Spain.

MT-CO1
Specificity
100 %
Genes
6 %
LEBER HEREDITARY OPTIC NEUROPATHY (LHON).

By Laboratorio de Genetica Clinica SL in Spain.

MT-ATP6, MT-CYB, MT-ND2, MT-CO2, MT-ND5, MT-CO1, MT-CO3, MT-ND3, MT-ATP8
Specificity
34 %
Genes
18 %
LEBER HEREDITARY OPTIC NEUROPATHY (LHON).

By Laboratorio de Genetica Clinica SL in Spain.

MT-ATP6, MT-CYB, MT-ND2, MT-CO2, MT-ND5, MT-CO1, MT-CO3, MT-ND3, MT-ATP8
Specificity
34 %
Genes
18 %
Leber optic atrophy (sequence analysis of MTCO3 gene).

By CGC Genetics in Portugal.

MT-CO3
Specificity
100 %
Genes
6 %
Leber optic atrophy.

By Centogene AG - the Rare Disease Company in Germany.

MT-CO3
Specificity
100 %
Genes
6 %
Mitochondrial Disease: ATP6, COX3 and ND3 gene sequencing.

By Foundation for Research In Genetics and Endocrinology and Institute of Human Genetics Institute of Human Genetics in India.

MT-ATP6, MT-CO3, MT-ND3
Specificity
34 %
Genes
6 %
Respiratory Chain Deficiency.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University in United States.

UQCRQ, UQCRB, ATP5F1E, ATPAF2, BCS1L, SDHAF2, NDUFS4, FOXRED1, NDUFAF2, SDHC, PDHB, TMEM70, NDUFAF1, TTC19, NDUFA10, NUBPL, COX4I2, SDHB, PDP1, NDUFA13 , (...)

View the complete list with 35 more genes
Specificity
10 %
Genes
30 %
Dystonia Exome Panel.

By Genetic Services Laboratory University of Chicago in United States.

AARS2, UQCRQ, ATP7B, AUH, BCS1L, PSEN1, GLB1, HPRT1, POLG, NDUFS4, AFG3L2, FOXRED1, NDUFAF2, PANK2, MECP2, NDUFA12, NDUFA9, TTC19, NDUFA10, SCP2 , (...)

View the complete list with 150 more genes
Specificity
2 %
Genes
18 %
Ataxia Exome Panel.

By Genetic Services Laboratory University of Chicago in United States.

FMR1, TTR, UBE3A, AARS2, ABHD12, PC, UQCRQ, UQCRB, HLCS, BTD, ATP7B, ATPAF2, AUH, BCKDHA, BCKDHB, BCS1L, TWNK, C12orf65, ADSL, PRKCG , (...)

View the complete list with 460 more genes
Specificity
2 %
Genes
53 %
COX10 Sequence Analysis.

By Translational Metabolic Laboratory Radboud University Medical Centre in Netherlands.

COX10
Specificity
100 %
Genes
6 %
Leukodystrophy and Leukoencephalopathy Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

PC, TYROBP, ATP7A, ATP7B, TWNK, ADSL, HSD17B4, CPS1, PSAP, GLB1, OCRL, POLG, NDUFS4, HSPD1, SLC25A4, RRM2B, FH, COQ9, DNM1L, DGUOK , (...)

View the complete list with 134 more genes
Specificity
2 %
Genes
12 %
Leigh and Leigh-Like Syndrome Sequencing Panel (Nuclear Genes Only) with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

UQCRQ, BCS1L, C12orf65, DLD, POLG, NDUFS4, FOXRED1, NDUFAF2, COQ9, PDSS2, NDUFA12, LIAS, NDUFA9, PDHB, TTC19, NDUFA10, NUBPL, SUCLA2, TSFM, GFM1 , (...)

View the complete list with 43 more genes
Specificity
7 %
Genes
24 %
Mitochondrial Oxidative Phosphorylation Deficiency Sequencing Panel (Nuclear Genes Only) with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

AARS2, ACAD9, YARS2, UQCRQ, UQCRB, ATP5F1E, ATPAF2, BCS1L, TWNK, C12orf65, ELAC2, OPA1, TRMU, DLD, POLG, NDUFS4, SLC25A4, GARS, AFG3L2, FOXRED1 , (...)

View the complete list with 154 more genes
Specificity
7 %
Genes
71 %
Hereditary kidney disorders - different panels.

By Institute of Human Genetics Cologne University in Germany.

VHL, ACAT1, ARG1, ATP7B, AUH, BCS1L, INVS, HNF1A, MMACHC, EYA1, LRP5, SLC34A1, WT1, PAX6, SDHAF2, HNF1B, RET, INPP5E, CPS1, GLB1 , (...)

View the complete list with 391 more genes
Specificity
2 %
Genes
30 %
Complex IV Defect.

By MGZ Medical Genetics Center in Germany.

C12orf65, COX14, COX4I2, ETHE1, SURF1, LRPPRC, FASTKD2, COX6B1, TACO1, COX10
Specificity
50 %
Genes
30 %
Neuropathy.

By MGZ Medical Genetics Center in Germany.

TTR, ABHD12, ATP7A, C12orf65, GAA, FBLN5, OPTN, AMACR, POLG, GARS, MFN2, HADHA, VCP, HARS, KARS, SPTLC2, REEP1, HADHB, TYMP, SQSTM1 , (...)

View the complete list with 102 more genes
Specificity
1 %
Genes
6 %
Leigh Syndrome.

By MGZ Medical Genetics Center in Germany.

ACAD9, ATP5F1E, ATPAF2, BCS1L, C12orf65, SDHAF2, SDHC, COX14, TTC19, SDHB, SCO2, PDHA1, COX15, SURF1, SDHAF1, LRPPRC, TACO1, MTFMT, SDHA, SDHD , (...)

View the complete list with 3 more genes
Specificity
18 %
Genes
24 %
Mitochondrial Respiratory Chain Complex IV Deficiency (Nuclear Genes).

By MGZ Medical Genetics Center in Germany.

SCO2, COX15, SURF1, FASTKD2, COX6B1, TACO1, COX10, SCO1
Specificity
63 %
Genes
30 %
Leigh Syndrome (nuclear DNA mutation).

By MGZ Medical Genetics Center in Germany.

BCS1L, NDUFS4, NDUFAF2, NDUFA10, SCO2, PDHA1, COX15, SURF1, NDUFS8, NDUFS7, NDUFS3, NDUFAF6, SDHAF1, NDUFS1, NDUFV1, FASTKD2, COX6B1, TACO1, MTFMT, SDHA , (...)

View the complete list with 4 more genes
Specificity
21 %
Genes
30 %
Neurogenetic Disorders - panels.

By MGZ Medical Genetics Center in Germany.

MTHFR, TTR, UBE3A, AARS2, ABHD12, ACAD9, ACADM, ACADS, AGL, ACADVL, YARS2, PC, UQCRQ, ARG1, UQCRB, ATP5F1E, ATP7B, ATPAF2, AUH, BCKDHA , (...)

View the complete list with 577 more genes
Specificity
2 %
Genes
48 %
Mitochondrial Encephalopathy / Leigh Syndrome – Basic Diagnostic.

By MGZ Medical Genetics Center in Germany.

AARS2, ACAD9, TWNK, TRMU, POLG, NDUFS4, RRM2B, MTO1, COQ9, PDSS2, PDSS1, COQ6, DGUOK, TMEM70, SUCLA2, COQ8A, TK2, COQ2, SCO2, ETHE1 , (...)

View the complete list with 13 more genes
Specificity
7 %
Genes
12 %
Mitochondrial Diseases.

By MGZ Medical Genetics Center in Germany.

AARS2, ACAD9, ACADM, ACADS, AGL, ACADVL, YARS2, PC, UQCRQ, UQCRB, ATP5F1E, ATPAF2, AUH, BCS1L, TWNK, C12orf65, SDHAF2, CPT2, OPA1, TRMU , (...)

View the complete list with 148 more genes
Specificity
4 %
Genes
36 %
Mitochondrial Encephalopathy.

By MGZ Medical Genetics Center in Germany.

AARS2, ACAD9, YARS2, PC, UQCRQ, UQCRB, ATP5F1E, ATPAF2, AUH, BCS1L, TWNK, SDHAF2, OPA1, TRMU, WFS1, DLD, POLG, NDUFS4, SLC25A19, SLC25A4 , (...)

View the complete list with 111 more genes
Specificity
5 %
Genes
36 %
Comprehensive mitochondrial disorders panel.

By Centogene AG - the Rare Disease Company in Germany.

MCCC1, MCCC2, ACAD9, ACADM, ACADS, ACADVL, ACAT1, PC, UQCRB, HLCS, ATP5F1E, ATP7B, ATPAF2, AUH, BCKDHA, BCKDHB, BCS1L, TWNK, STAR, MTRR , (...)

View the complete list with 160 more genes
Specificity
2 %
Genes
18 %
AllNeuro panel.

By Centogene AG - the Rare Disease Company in Germany.

F2, F5, FMR1, HTT, HFE, MTHFR, TTR, UBE3A, VHL, PTEN, AARS2, ABHD12, ACACA, ACAD9, ACADL, ACADM, ACADS, AGL, ACADVL, ACAT1 , (...)

View the complete list with 1185 more genes
Specificity
1 %
Genes
30 %
Leukodystrophy / Leukencephalopathy and differential diagnoses Panel.

By CeGaT GmbH in Germany.

AARS2, PC, TYROBP, ATP7A, ATP7B, AUH, BCS1L, C12orf65, MMACHC, HSD17B4, PSAP, GLB1, OCRL, POLG, NDUFS4, HSPD1, FOXRED1, NDUFAF2, NDUFA12, NDUFA9 , (...)

View the complete list with 155 more genes
Specificity
3 %
Genes
30 %
Mitochondrial Diseases (mtDNA and 133 nuclear genes).

By Asper Biogene Asper Biogene LLC in Estonia.

AARS2, ACAD9, ACADL, ACADM, ACADS, ACADVL, YARS2, FBP1, PC, GYS2, UQCRQ, UQCRB, HLCS, ATP5F1E, ATPAF2, AUH, BCS1L, TWNK, C12orf65, SLC37A4 , (...)

View the complete list with 112 more genes
Specificity
4 %
Genes
30 %
Mitochondrial Respiratory Chain Complex IV Deficiency (Nuclear Genes).

By Clinical Genomics Maastricht University Medical Centre in Netherlands.

COX10
Specificity
100 %
Genes
6 %
LEIGH SYNDROME.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain.

BCS1L, DLD, COQ2, SCO2, PDHA1, COX15, SURF1, TACO1, SLC19A3, COX10
Specificity
20 %
Genes
12 %
Mitochondrial respiratory chain complex II, III, and IV deficiency.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain.

UQCRQ, UQCRB, BCS1L, SDHAF2, SDHC, TTC19, COX4I2, SDHB, CYCS, SCO2, COX15, SURF1, SDHAF1, FASTKD2, COX6B1, TACO1, SDHA, SDHD, COX4I1, COX10 , (...)

View the complete list with 1 more genes
Specificity
24 %
Genes
30 %
Mitochondrial Diseases: Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

UQCRQ, UQCRB, ATPAF2, BCS1L, SDHAF2, NDUFS4, FOXRED1, SDHC, TMEM70, NDUFAF1, TTC19, NDUFA10, NUBPL, COX4I2, SDHB, SCO2, NDUFA2, COX15, SURF1, NDUFS8 , (...)

View the complete list with 23 more genes
Specificity
12 %
Genes
30 %
Lactic Acidosis-Pyruvate NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

ACAD9, YARS2, FBP1, PC, GYS2, UQCRB, ATP5F1E, ATPAF2, BCS1L, TRMU, DLD, POLG, NDUFS4, SLC25A4, FOXRED1, RRM2B, FH, COQ9, PDSS2, PDSS1 , (...)

View the complete list with 49 more genes
Specificity
3 %
Genes
12 %
Nuclear-Mito NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

HTT, UBE3A, MUTYH, TP53, MCCC1, MCCC2, AARS2, ACACA, ACAD9, ACADL, ACADM, ACADS, ACADVL, ACAT1, YARS2, FBP1, PC, GYS2, UQCRQ, UQCRB , (...)

View the complete list with 484 more genes
Specificity
2 %
Genes
36 %
COX10.

By Fulgent Genetics Fulgent Genetics in United States.

COX10
Specificity
100 %
Genes
6 %
Comprehensive Epilepsy NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

MTHFR, UBE3A, PC, ARG1, BTD, ATPAF2, AUH, BCS1L, TWNK, C12orf65, ADSL, PAX6, AMACR, CPT2, PSAP, GNPTAB, GLB1, CC2D2A, PRODH, ATP6V0A2 , (...)

View the complete list with 427 more genes
Specificity
1 %
Genes
12 %
Charcot-Marie-Tooth Neuropathy Panel.

By Blueprint Genetics in Finland.

TTR, ATP7A, C12orf65, FBLN5, AMACR, GNE, POLG, GARS, KIF1B, MFN2, VCP, HARS, KARS, SPTLC2, REEP1, HADHB, TYMP, AIFM1, SURF1, HK1 , (...)

View the complete list with 78 more genes
Specificity
2 %
Genes
6 %
CYTOCHROME C OXIDASE DEFICIENCY.

By Laboratorio de Genetica Clinica SL in Spain.

COX14, SCO2, COX15, SURF1, FASTKD2, COX10, SCO1
Specificity
58 %
Genes
24 %
LEIGH'S SYNDROME (CYTOCHROME C OXIDASE DEFICIENCY).

By Laboratorio de Genetica Clinica SL in Spain.

BCS1L, DLD, NDUFS4, SCO2, PDHA1, COX15, SURF1, NDUFS8, NDUFS7, NDUFS3, NDUFS1, NDUFV1, SDHA, COX10
Specificity
8 %
Genes
6 %
LEIGH SYNDROME: NGS PANEL-1.

By Laboratorio de Genetica Clinica SL in Spain.

BCS1L, DLD, NDUFS4, PDHB, COQ2, SCO2, PDHA1, COX15, SURF1, NDUFS8, NDUFS7, TACO1, SDHA, SLC19A3, COX10
Specificity
14 %
Genes
12 %
LEIGH SYNDROME: NGS PANEL-2.

By Laboratorio de Genetica Clinica SL in Spain.

ACAD9, BCS1L, DLD, NDUFS4, FOXRED1, NDUFAF2, PDSS2, NDUFA12, NDUFA9, PDHB, NDUFAF1, TTC19, NDUFA10, SUCLA2, TUFM, COQ2, SCO2, PDHA1, NDUFA2, COX15 , (...)

View the complete list with 23 more genes
Specificity
17 %
Genes
42 %
Leigh Syndrome, Panel Massive Sequencing (NGS) 10 Genes.

By Reference Laboratory Genetics in Spain.

BCS1L, DLD, COQ2, SCO2, PDHA1, COX15, SURF1, TACO1, SLC19A3, COX10
Specificity
20 %
Genes
12 %
MitoMet®Plus aCGH Analysis.

By Baylor Miraca Genetics Laboratories in United States.

BRCA1, MTHFR, UBE3A, VHL, MUTYH, TP53, MCCC1, MCCC2, AARS2, ABCB11, ABCB4, ABHD12, ACACA, ACAD9, ACADM, ACADS, AGL, ACADVL, ACAT1, ZNF513 , (...)

View the complete list with 617 more genes
Specificity
1 %
Genes
18 %
FASTKD2 Comprehensive - Sequence & Deletion/Duplication Analysis.

By Baylor Miraca Genetics Laboratories in United States.

FASTKD2
Specificity
100 %
Genes
6 %
FASTKD2 Deletion/Duplication Analysis.

By Baylor Miraca Genetics Laboratories in United States.

FASTKD2
Specificity
100 %
Genes
6 %
FASTKD2 Sequence Analysis.

By Baylor Miraca Genetics Laboratories in United States.

FASTKD2
Specificity
100 %
Genes
6 %
FASTKD2 Prenatal Sequence Analysis.

By Baylor Miraca Genetics Laboratories in United States.

FASTKD2
Specificity
100 %
Genes
6 %
Dystonia.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University in United States.

PTEN, ATP7B, AUH, PSEN1, HPRT1, AFG3L2, FOXRED1, PANK2, SCP2, GAMT, SPR, SUCLA2, PINK1, TIMM8A, MMADHC, SUOX, PTS, QDPR, MPV17, SDHAF1 , (...)

View the complete list with 57 more genes
Specificity
2 %
Genes
6 %
Movement Disorders Panel.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University in United States.

PTEN, ATP7B, AUH, PSEN1, HPRT1, TRIM32, POLG, AFG3L2, FOXRED1, PANK2, SCP2, GAMT, SPR, SUCLA2, PARK7, PINK1, SQSTM1, TIMM8A, MMADHC, SUOX , (...)

View the complete list with 72 more genes
Specificity
2 %
Genes
6 %
Mitochondrial complex IV deficiency (sequence analysis of FASTKD2 gene).

By CGC Genetics in Portugal.

FASTKD2
Specificity
100 %
Genes
6 %
Mitochondrial Complex IV Deficiency Sequencing Panel with CNV Detection (Nuclear Genes).

By PreventionGenetics PreventionGenetics in United States.

COX14, SCO2, COX15, SURF1, LRPPRC, FASTKD2, COX6B1, TACO1, SCO1, COX20, COA5, PET100, APOPT1, COA6, COA3
Specificity
60 %
Genes
53 %
Mitochondrial Complex IV Deficiency via FASTKD2 Gene Sequencing with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

FASTKD2
Specificity
100 %
Genes
6 %
Epilepsy and Mitochondrial Encephalopathy.

By MGZ Medical Genetics Center in Germany.

UBE3A, YARS2, PC, UQCRQ, UQCRB, SDHAF2, OPA1, TRMU, WFS1, POLG, NDUFS4, SLC25A19, SLC25A4, FOXRED1, RRM2B, NDUFAF2, SDHC, PANK2, MECP2, MTO1 , (...)

View the complete list with 166 more genes
Specificity
2 %
Genes
18 %
Epilepsy.

By MGZ Medical Genetics Center in Germany.

UBE3A, YARS2, PC, UQCRQ, UQCRB, SDHAF2, AMACR, OPA1, TRMU, WFS1, POLG, NDUFS4, SLC25A19, SLC25A4, FOXRED1, RRM2B, NDUFAF2, SDHC, PANK2, MECP2 , (...)

View the complete list with 192 more genes
Specificity
2 %
Genes
18 %
Mitochondrial complex IV deficiency.

By Centogene AG - the Rare Disease Company in Germany.

FASTKD2
Specificity
100 %
Genes
6 %
Ataxia and differential diagnoses Panel.

By CeGaT GmbH in Germany.

FMR1, AARS2, ABHD12, UQCRQ, BTD, ATP7B, AUH, TWNK, PRKCG, PAX6, INPP5E, AMACR, OPA1, WFS1, GLB1, CC2D2A, ELOVL4, TMEM67, NPHP1, CEP290 , (...)

View the complete list with 184 more genes
Specificity
1 %
Genes
12 %
Dystonia: Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

PTEN, ATP7B, AUH, PSEN1, HPRT1, AFG3L2, FOXRED1, PANK2, SCP2, GAMT, SPR, SUCLA2, PINK1, TIMM8A, MMADHC, SUOX, PTS, QDPR, MPV17, SDHAF1 , (...)

View the complete list with 62 more genes
Specificity
2 %
Genes
6 %
FASTKD2.

By Fulgent Genetics Fulgent Genetics in United States.

FASTKD2
Specificity
100 %
Genes
6 %
Mitochondrial Complex IV Deficiency , Sequencing FASTKD2 Gene.

By Reference Laboratory Genetics in Spain.

FASTKD2
Specificity
100 %
Genes
6 %
Mitochondrial Complex IV Deficiency via APOPT1 Gene Sequencing with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

APOPT1
Specificity
100 %
Genes
6 %
Epileptic Encephalopathy Panel.

By Blueprint Genetics in Finland.

HTT, MTHFR, UBE3A, ADSL, CPT2, POLG, NDUFS4, MECP2, DNM1L, TTC19, NUBPL, ABAT, GAMT, STXBP1, SLC25A22, GLDC, AMT, ETHE1, D2HGDH, SLC9A6 , (...)

View the complete list with 108 more genes
Specificity
3 %
Genes
18 %
Leukodystrophy and Leukoencephalopathy Panel.

By Blueprint Genetics in Finland.

PSAP, HSPD1, FOXRED1, NFU1, TTC19, NUBPL, DARS2, GFM1, D2HGDH, AIFM1, ABCD1, ALDH3A2, COX15, SDHAF1, NDUFAF5, HIBCH, GALC, L2HGDH, COX6B1, CYP27A1 , (...)

View the complete list with 54 more genes
Specificity
5 %
Genes
18 %
Comprehensive Epilepsy Panel.

By Blueprint Genetics in Finland.

HTT, MTHFR, UBE3A, ARG1, BTD, ADSL, AMACR, CPT2, PSAP, GLB1, PRODH, GNE, HSD17B10, POLG, NDUFS4, HSPD1, AFG3L2, FOXRED1, FH, MECP2 , (...)

View the complete list with 263 more genes
Specificity
2 %
Genes
18 %
COA7.

By Fulgent Genetics Fulgent Genetics in United States.

COA7
Specificity
100 %
Genes
6 %
Mitochondrial complex IV deficiency (sequence analysis of COX20 gene).

By CGC Genetics in Portugal.

COX20
Specificity
100 %
Genes
6 %
Mitochondrial Complex IV Deficiency via COX20 Gene Sequencing with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

COX20
Specificity
100 %
Genes
6 %
Dystonia Plus Syndrome Panel.

By CeGaT GmbH in Germany.

SPR, TH, GCH1, SGCE, ATP1A3, RELN, TAF1, KIF1C, TUBB4A, FTL, PRKRA, COX20, BCAP31, SLC30A10
Specificity
8 %
Genes
6 %
Dystonia All Panel.

By CeGaT GmbH in Germany.

ATP7A, ATP7B, AUH, PANK2, MECP2, SPR, TIMM8A, HEXA, SLC25A15, GCDH, CYP27A1, PRKN, CLN3, PNKD, ARSA, ARX, NPC1, NPC2, SLC2A1, ATM , (...)

View the complete list with 34 more genes
Specificity
2 %
Genes
6 %
Ataxia Panel.

By Blueprint Genetics in Finland.

FMR1, ABHD12, TWNK, PRKCG, PAX6, INPP5E, OPA1, WFS1, CC2D2A, ELOVL4, TMEM67, ARL6, NPHP1, MKKS, CEP290, TTC8, TRIM32, POLG, NDUFS4, AFG3L2 , (...)

View the complete list with 137 more genes
Specificity
1 %
Genes
6 %
Mitochondrial Complex IV Deficiency via the COX14 Gene.

By PreventionGenetics PreventionGenetics in United States.

COX14
Specificity
100 %
Genes
6 %
COX14.

By Fulgent Genetics Fulgent Genetics in United States.

COX14
Specificity
100 %
Genes
6 %
Mitochondrial Complex IV Deficiency via the PET100 Gene.

By PreventionGenetics PreventionGenetics in United States.

PET100
Specificity
100 %
Genes
6 %
Mitochondrial complex IV deficiency.

By Centogene AG - the Rare Disease Company in Germany.

PET100
Specificity
100 %
Genes
6 %
CentoICU platinum plus.

By Centogene AG - the Rare Disease Company in Germany.

BRCA2, F2, F5, MTHFR, UBE3A, MCCC1, MCCC2, AARS2, ACAD9, ACADL, ACADM, ACADS, AGL, ACADVL, ACAT1, ALDOA, ALDOB, FBP1, PC, GYS2 , (...)

View the complete list with 494 more genes
Specificity
1 %
Genes
6 %
CentoICU platinum.

By Centogene AG - the Rare Disease Company in Germany.

BRCA2, F2, F5, MTHFR, UBE3A, MCCC1, MCCC2, AARS2, ACAD9, ACADL, ACADM, ACADS, AGL, ACADVL, ACAT1, ALDOA, ALDOB, FBP1, PC, GYS2 , (...)

View the complete list with 494 more genes
Specificity
1 %
Genes
6 %
PET100.

By Fulgent Genetics Fulgent Genetics in United States.

PET100
Specificity
100 %
Genes
6 %
COX6B1 Comprehensive - Sequence & Deletion/Duplication Analysis.

By Baylor Miraca Genetics Laboratories in United States.

COX6B1
Specificity
100 %
Genes
6 %
COX6B1 Deletion/Duplication Analysis.

By Baylor Miraca Genetics Laboratories in United States.

COX6B1
Specificity
100 %
Genes
6 %
COX6B1 Sequence Analysis.

By Baylor Miraca Genetics Laboratories in United States.

COX6B1
Specificity
100 %
Genes
6 %
Cytochrome C oxidase deficiency (sequence analysis of COX6B1 gene).

By CGC Genetics in Portugal.

COX6B1
Specificity
100 %
Genes
6 %
Mitochondrial Complex IV Deficiency via COX6B1 Gene Sequencing with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

COX6B1
Specificity
100 %
Genes
6 %
Hypertrophic cardiomyopathy - different panels.

By Institute of Human Genetics Cologne University in Germany.

TTR, AARS2, ACAD9, AGL, ACADVL, ATPAF2, GAA, GNPTAB, GLB1, DLD, CRYAB, RAF1, MTO1, MRPL3, LIAS, AGK, TMEM70, FAH, MRPS22, TSFM , (...)

View the complete list with 45 more genes
Specificity
2 %
Genes
6 %
Cytochrome c oxidase deficiency.

By Centogene AG - the Rare Disease Company in Germany.

COX6B1
Specificity
100 %
Genes
6 %
Inherited Cardiovascular Diseases and Sudden Death Panel.

By Health in Code in Spain.

HFE, TTR, AARS2, ACAD9, ACADM, AGL, ACADVL, ATPAF2, GAA, COL1A1, COL1A2, COL3A1, PSEN1, ELN, EYA4, GNPTAB, GLB1, PITX2, JAG1, DSP , (...)

View the complete list with 193 more genes
Specificity
1 %
Genes
6 %
Ventricular Arrythmia & Sudden Death Panel with Structural Heart Disease.

By Health in Code in Spain.

HFE, TTR, AARS2, ACAD9, AGL, ACADVL, ATPAF2, GAA, GNPTAB, GLB1, PITX2, DSP, DLD, SLC25A4, CRYAB, RAF1, MTO1, MRPL3, LIAS, AGK , (...)

View the complete list with 121 more genes
Specificity
1 %
Genes
6 %
Cardiomyopathies Panel.

By Health in Code in Spain.

HFE, TTR, AARS2, ACAD9, AGL, ACADVL, ATPAF2, GAA, PSEN1, ELN, EYA4, GNPTAB, GLB1, PITX2, JAG1, DSP, DLD, SLC25A4, CRYAB, RAF1 , (...)

View the complete list with 129 more genes
Specificity
1 %
Genes
6 %
Hypertrophic Cardiomyopathy Extended Panel.

By Health in Code in Spain.

TTR, AARS2, ACAD9, AGL, ACADVL, ATPAF2, GAA, GNPTAB, GLB1, DLD, SLC25A4, CRYAB, RAF1, MTO1, MRPL3, LIAS, AGK, TMEM70, FAH, MRPS22 , (...)

View the complete list with 70 more genes
Specificity
2 %
Genes
6 %
Cardiovascular Diseases_General Panel.

By Health in Code in Spain.

HFE, TTR, AARS2, ACAD9, AGL, ACADVL, ATP5F1E, ATP7A, ATPAF2, B4GALT7, GAA, HNF1A, NEUROD1, PPARG, COL1A1, COL1A2, COL3A1, ELAC2, PSEN1, HNF1B , (...)

View the complete list with 360 more genes
Specificity
1 %
Genes
6 %
Arrhythmia General Panel.

By Health in Code in Spain.

HFE, TTR, AARS2, ACAD9, AGL, ACADVL, ATP5F1E, ATPAF2, GAA, ELAC2, PSEN1, EYA4, GNPTAB, GLB1, PITX2, DSP, DLD, SLC25A4, FOXRED1, CRYAB , (...)

View the complete list with 198 more genes
Specificity
1 %
Genes
6 %
Hypertrophic cardiomyopathy extended panel.

By Health in Code in Spain.

TTR, AARS2, ACAD9, AGL, ACADVL, ATP5F1E, ATPAF2, GAA, ELAC2, GNPTAB, GLB1, DSP, DLD, SLC25A4, FOXRED1, CRYAB, RAF1, MTO1, MRPL3, LIAS , (...)

View the complete list with 84 more genes
Specificity
1 %
Genes
6 %
Cardiomyopathies General Panel.

By Health in Code in Spain.

HFE, TTR, AARS2, ACAD9, AGL, ACADVL, ATP5F1E, ATPAF2, GAA, ELAC2, PSEN1, EYA4, GNPTAB, GLB1, DSP, DLD, SLC25A4, FOXRED1, CRYAB, RAF1 , (...)

View the complete list with 153 more genes
Specificity
1 %
Genes
6 %
COX6B1.

By Fulgent Genetics Fulgent Genetics in United States.

COX6B1
Specificity
100 %
Genes
6 %
Hepatic failure, early onset, and neurologic disorder (sequence analysis of SCO1 gene).

By CGC Genetics in Portugal.

SCO1
Specificity
100 %
Genes
6 %
SCO1 Sequence Analysis.

By Translational Metabolic Laboratory Radboud University Medical Centre in Netherlands.

SCO1
Specificity
100 %
Genes
6 %
Mitochondrial Complex IV Deficiency via SCO1 Gene Sequencing with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

SCO1
Specificity
100 %
Genes
6 %
Mitochondrial Hepato(encephalo)pathy and Phenocopies.

By MGZ Medical Genetics Center in Germany.

AGL, BCS1L, TWNK, TRMU, POLG, DGUOK, PNPLA2, TSFM, GFM1, ABHD5, MPV17, CPT1A, SUCLG1, GBE1, SCO1
Specificity
7 %
Genes
6 %
Hepatic failure, early onset, and neurologic disorder.

By Centogene AG - the Rare Disease Company in Germany.

SCO1
Specificity
100 %
Genes
6 %
SCO1.

By Fulgent Genetics Fulgent Genetics in United States.

SCO1
Specificity
100 %
Genes
6 %
Next Generation Sequencing for Jaundice Associated Genes Variation Test.

By National Taiwan University Hospital A1 Center National Taiwan University Hospital in Taiwan.

HFE, ABCB11, ABCB4, ATP7B, ATP8B1, BCS1L, TWNK, INVS, HBB, HNF1B, AMACR, JAG1, POLG, RRM2B, SLC25A13, DGUOK, MPV17, SUCLG1, ASS1, CYP27A1 , (...)

View the complete list with 53 more genes
Specificity
2 %
Genes
6 %
TACO1 Comprehensive - Sequence & Deletion/Duplication Analysis.

By Baylor Miraca Genetics Laboratories in United States.

TACO1
Specificity
100 %
Genes
6 %
TACO1 Sequence Analysis (Prenatal Diagnosis).

By Baylor Miraca Genetics Laboratories in United States.

TACO1
Specificity
100 %
Genes
6 %
TACO1 Sequence Analysis.

By Baylor Miraca Genetics Laboratories in United States.

TACO1
Specificity
100 %
Genes
6 %
TACO1 Deletion/Duplication Analysis.

By Baylor Miraca Genetics Laboratories in United States.

TACO1
Specificity
100 %
Genes
6 %
Leigh syndrome due to the mitochondrial complex IV deficiency (sequence analysis of TACO1 gene).

By CGC Genetics in Portugal.

TACO1
Specificity
100 %
Genes
6 %
TACO1-Related Leigh Syndrome (LS) via TACO1 Gene Sequencing with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

TACO1
Specificity
100 %
Genes
6 %
Mitochondrial Ataxia.

By MGZ Medical Genetics Center in Germany.

C12orf65, POLG, AFG3L2, MTPAP, COQ8A, SPG7, ABCB7, APTX, TACO1, MARS2
Specificity
10 %
Genes
6 %
Combined Respiratory Chain Defects.

By MGZ Medical Genetics Center in Germany.

AARS2, YARS2, C12orf65, TRMU, POLG, RRM2B, MTO1, DGUOK, SARS2, MTPAP, GFER, SUCLA2, MRPS22, RARS2, DARS2, TUFM, TSFM, MRPS16, TK2, GFM1 , (...)

View the complete list with 12 more genes
Specificity
4 %
Genes
6 %
Ataxia.

By MGZ Medical Genetics Center in Germany.

ARG1, BCKDHA, BCKDHB, C12orf65, CPS1, POLG, TTC19, COQ8A, DARS2, OTC, PDHA1, ABCB7, DBT, IVD, SLC25A15, ASS1, APTX, ASL, TACO1, SLC2A1 , (...)

View the complete list with 14 more genes
Specificity
3 %
Genes
6 %
Leigh syndrome due to the mitochondrial complex IV deficiency.

By Centogene AG - the Rare Disease Company in Germany.

TACO1
Specificity
100 %
Genes
6 %
Epilepsy NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

MTHFR, UBE3A, PC, ARG1, BTD, ATPAF2, BCS1L, C12orf65, ADSL, PAX6, CPT2, PSAP, GNPTAB, GLB1, CC2D2A, PRODH, ATP6V0A2, GNE, HSD17B10, TMEM67 , (...)

View the complete list with 323 more genes
Specificity
1 %
Genes
6 %
TACO1.

By Fulgent Genetics Fulgent Genetics in United States.

TACO1
Specificity
100 %
Genes
6 %
Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes, MT-CO2 related.

By Centogene AG - the Rare Disease Company in Germany.

MT-CO2
Specificity
100 %
Genes
6 %
Mitochondrial Complex IV Deficiency via the COA3 Gene.

By PreventionGenetics PreventionGenetics in United States.

COA3
Specificity
100 %
Genes
6 %
COA3.

By Fulgent Genetics Fulgent Genetics in United States.

COA3
Specificity
100 %
Genes
6 %

Alternate names

Mitochondrial Complex Iv Deficiency Is also known as cytochrome c oxidase deficiency, cox deficiency;isolated cox deficiency; isolated mitochondrial respiratory chain complex iv deficiency.


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