Panel 4: Mitochondrial diseases


Includes:

Genes encoding for nuclear complex I, II, III, IV, V, and pyruvate dehydrogenase; CoQ primary deficiencies; mitochondrial DNA depletion; combined deficiencies of oxidative phosphorylation; genes associated with other metabolic defects that may be confused with a mitochondrial disease.

Mitochondrial diseases result from failure in the functioning of mitochondria, in turn, constitute the cells of the body parts, whose function is to generate the energy needed to sustain life and for the development and proper organ function and systems. When they fail, less power once generated inside the cell, resulting in cell injury or death. If this process is repeated throughout the body, whole systems begin to fail and the life of the person suffering what is at serious risk. The disease primarily affects children, but adult onsets are becoming increasingly common. Diseases of the mitochondria appear to cause the most damage to brain cells heart, liver, muscle, kidney, and endocrine and respiratory systems.

NMG4: Mitochondrial diseases

NMG4_1: Defect in a complex of the respiratory chain

NMG4_2: Primary deficiencies of coenzyme Q

NMG4_3: Syndrome mtDNA depletion

NMG4_4: Deficit pyruvate dehydrogenase

NMG4_5: Combined deficiency of oxidative phosphorylation

NMG4_6: Other defects that overlap clinically with mitochondrial diseases

Panel 4: Mitochondrial respiratory chain
Panel 4: Mitochondrial diseases 2

Included genes:

ACAD9 NDUFB1 NDUFV1 UQCRHL
FOXRED1 NDUFB3 NDUFV2 TTC19
NDUFA1 NDUFB2 NDUFV3 COX10
NDUFA2 NDUFB4 NUBPL COX11
NDUFA3 NDUFB5 SDHA COX14
NDUFA4 NDUFB6 SDHB COX15
NDUFA4L2 NDUFB7 SDHC COX16
NDUFA5 NDUFB8 SDHD COX17
NDUFA9 NDUFB9 SDHAF1 COX18
NDUFA10 NDUFB10 SDHAF2 COX19
NDUFA11 NDUFB11 BCS1L COX6A1
NDUFA12 NDUFS1 UQCRQ COX6A2
NDUFA13 NDUFS2 UQCRB COX6B2
NDUFAF1 NDUFS3 UQCR10 SCO1
NDUFAF2 NDUFS4 UQCR11 SCO2
NDUFAF3 NDUFS5 UQCRC1 SURF1
NDUFAF4 NDUFS6 UQCRC2 TACO1
NDUFAF5 NDUFS7 UQCRFS1 COA5
NDUFAF6 NDUFS8 UQCRH FASTKD2
COX6B1 ATP5G3 COQ10B TUFM
LRPPRC DLD COQ7 MRPS22
COX4I1 PDHA1 COQ6 AIFM1
COX4I2 DLAT TYMP C12ORF65
EMC8 PDHX TK2 AARS2
COX7B PDHB DGUOK GFER
CYCS PDHA2 POLG ISCU
ATPAF1 PDP1 SUCLA2 YARS2
ATPAF2 PDP2 MPV17 TAZ
TMEM70 LIAS C10ORF2 FARS2
ATP5E COQ2 RRM2B DNM1L
ATP5D COQ3 SUCLG1 PUS1
ATP5B COQ4 AGK NFU1
ATP5A1 COQ5 POLG2 BOLA3
ATP5C1 PDSS2 SLC25A4 ADCK1
ATP5O PDSS1 SLC25A3 ADCK2
ATP5F1 ADCK3 GFM1 ADCK4
ATP5G1 COQ9 MRPS16 ADCK5
ATP5G2 COQ10A TSFM MGME1
LETM1 TPK1 ELAC2 VARS2
MNF1 RPIA MTFMT TARS2
FBXL4 SERAC1 PNPT1 ETHE1
UPB1 SLC19A3 EARS2 TRMU
NAT8L GATM RMND1 GARS
DARS2 GAMT MTO1 FLAD1
ADSL SLC6A8 MICU1 PTCD1
DPYD MRPL3 PET100 CHCHD10
DPYS MRPL44 OPA1 SPG7

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pdf filePanel 4: Mitochondrial diseases