| Disease |
OMIM |
Gene / Mutation |
| ALZHEIMER DISEASE |
. |
MTND1
(COMPLEX 1, SUBUNIT ND1, NADH-UBIQUINONE OXIDOREDUCTASE, SUBUNIT
ND1NADH
DEHYDROGENASE, SUBUNIT 1) |
ATAXIA, CATARACT AND DIABETES MELLITUS
» RETINITIS
PIGMENTOSA-DEAFNESS SYNDROME |
|
MTTS2 (TRANSFER RNA, MITOCHONDRIAL, SERINE, 2) |
| ATAXIA, PROGRESSIVE SEIZURES, MENTAL DETERIORATION, AND HEARING
LOSS |
|
MTTV (TRANSFER RNA, MITOCHONDRIAL, VALINE) |
| CARDIOMYOPATHY |
590050 |
C3254G |
| A3260G |
| C3303T |
| CARDIOMYOPATHY |
590050 |
MTRNR1(RIBOSOMAL RNA, MITOCHONDRIAL, 12S) |
| CARDIOMYOPATHY |
590050 |
MTTG (TRANSFER RNA, MITOCHONDRIAL, GLYCINE) |
| CARDIOMYOPATHY |
590050 |
MTTH (TRANSFER RNA, MITOCHONDRIAL, HISTIDINE) |
| CARDIOMYOPATHY |
590050 |
MTTI (TRANSFER RNA, MITOCHONDRIAL, ISOLEUCINE) |
| CARDIOMYOPATHY |
590050 |
MTTL1
(TRANSFER RNA, MITOCHONDRIAL, LEUCINE, 1) |
| CARDIOMYOPATHY |
590050 |
MTTL2
(TRANSFER RNA, MITOCHONDRIAL, LEUCINE, 2) |
| CARDIOMYOPATHY AND DEAFNESS |
|
MTTK (TRANSFER RNA, MITOCHONDRIAL, LYSINE) |
CARDIOMYOPATHY, INFANTILE HISTIOCYTOID
» CARDIOMYOPATHY,
INFANTILE XANTHOMATOUS
» CARDIOMYOPATHY, FOCAL LIPID
» CARDIOMYOPATHY,
ONCOCYTIC
» FOAMY MYOCARDIAL TRANSFORMATION OF INFANCY |
500000 |
MTCYB (CYTOCHROME b OF COMPLEX 3, COMPLEX 3, CYTOCHROME b SUBUNITUBIQUINONE-CYTOCHROME
c OXIDOREDUCTASE, CYTOCHROME b SUBUNIT) |
| CHLORAMPHENICOL RESISTANCE |
|
MTRNR2(RIBOSOMAL RNA, MITOCHONDRIAL, 16S) |
COMPLEX 1, MITOCHONDRIAL RESPIRATORY CHAIN, DEFICIENCY OF
» NADH:Q(1) OXIDOREDUCTASE DEFICIENCY
» NADH-COENZYME Q REDUCTASE DEFICIENCY
» MITOCHONDRIAL NADH DEHYDROGENASE COMPONENT OF COMPLEX 1, DEFICIENCY OF |
252010 |
MTND1
(COMPLEX 1, SUBUNIT ND1, NADH-UBIQUINONE OXIDOREDUCTASE, SUBUNIT
ND1NADH DEHYDROGENASE, SUBUNIT 1) |
COMPLEX 1, MITOCHONDRIAL RESPIRATORY CHAIN, DEFICIENCY OF
» NADH:Q(1) OXIDOREDUCTASE DEFICIENCY
» NADH-COENZYME Q REDUCTASE DEFICIENCY
» MITOCHONDRIAL NADH DEHYDROGENASE COMPONENT OF COMPLEX 1, DEFICIENCY OF |
252010 |
MTND2
(COMPLEX 1, SUBUNIT ND2, NADH-UBIQUINONE OXIDOREDUCTASE, SUBUNIT
ND2NADH DEHYDROGENASE, SUBUNIT 2) |
COMPLEX 1, MITOCHONDRIAL RESPIRATORY CHAIN, DEFICIENCY OF
» NADH:Q(1) OXIDOREDUCTASE DEFICIENCY
» NADH-COENZYME Q REDUCTASE DEFICIENCY
» MITOCHONDRIAL NADH DEHYDROGENASE COMPONENT OF COMPLEX 1, DEFICIENCY OF |
252010 |
MTND3
(COMPLEX 1, SUBUNIT ND3, NADH-UBIQUINONE OXIDOREDUCTASE, SUBUNIT
ND3NADH DEHYDROGENASE, SUBUNIT 3) |
COMPLEX 1, MITOCHONDRIAL RESPIRATORY CHAIN, DEFICIENCY OF
» NADH:Q(1) OXIDOREDUCTASE DEFICIENCY
» NADH-COENZYME Q REDUCTASE DEFICIENCY
» MITOCHONDRIAL NADH DEHYDROGENASE COMPONENT OF COMPLEX 1, DEFICIENCY OF |
252010 |
MTND4
(COMPLEX 1, SUBUNIT ND4, NADH-UBIQUINONE OXIDOREDUCTASE, SUBUNIT
ND4NADH DEHYDROGENASE, SUBUNIT 4) |
COMPLEX 1, MITOCHONDRIAL RESPIRATORY CHAIN, DEFICIENCY OF
» NADH:Q(1) OXIDOREDUCTASE DEFICIENCY
» NADH-COENZYME Q REDUCTASE DEFICIENCY
» MITOCHONDRIAL NADH DEHYDROGENASE COMPONENT OF COMPLEX 1, DEFICIENCY OF |
252010 |
MTND5
(COMPLEX 1, SUBUNIT ND5, NADH-UBIQUINONE OXIDOREDUCTASE, SUBUNIT
ND5NADH DEHYDROGENASE, SUBUNIT 5) |
COMPLEX 1, MITOCHONDRIAL RESPIRATORY CHAIN, DEFICIENCY OF
» NADH:Q(1) OXIDOREDUCTASE DEFICIENCY
» NADH-COENZYME Q REDUCTASE DEFICIENCY
» MITOCHONDRIAL NADH DEHYDROGENASE COMPONENT OF COMPLEX 1, DEFICIENCY OF |
252010 |
MTND6
(COMPLEX 1, SUBUNIT ND6, NADH-UBIQUINONE OXIDOREDUCTASE, SUBUNIT
ND6NADH DEHYDROGENASE, SUBUNIT 6) |
| COMPLEX 3, MITOCHONDRIAL RESPIRATORY CHAIN, DEFICIENCY OF |
124000 |
MTCYB (CYTOCHROME b OF COMPLEX 3, COMPLEX 3, CYTOCHROME b SUBUNITUBIQUINONE-CYTOCHROME
c OXIDOREDUCTASE, CYTOCHROME b SUBUNIT) |
COMPLEX 4, MITOCHONDRIAL RESPIRATORY CHAIN, DEFICIENCY OF
» CYTOCHROME
c OXIDASE DEFICIENCY
» COX DEFICIENCY |
220110 |
MTCO1
(COMPLEX 4, CYTOCHROME c OXIDASE SUBUNIT 1, CYTOCHROME c OXIDASE
1; COX1) |
COMPLEX
4, MITOCHONDRIAL RESPIRATORY CHAIN, DEFICIENCY OF
» CYTOCHROME
c OXIDASE DEFICIENCY
» COX DEFICIENCY |
220110 |
MTCO2
(COMPLEX 4, CYTOCHROME c OXIDASE SUBUNIT 2, CYTOCHROME c OXIDASE
2; COX2) |
COMPLEX
4, MITOCHONDRIAL RESPIRATORY CHAIN, DEFICIENCY OF
» CYTOCHROME
c OXIDASE DEFICIENCY
» COX DEFICIENCY |
220110 |
MTCO3
(COMPLEX 4, CYTOCHROME c OXIDASE SUBUNIT 3, CYTOCHROME c OXIDASE
3; COX3) |
| CPEO (CHRONIC PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA) |
. |
4977
bp Deletion |
| A3243G |
| T3250C |
| G3316A |
| T4274C |
| T4285C |
| G4298A |
| G4309A |
| T5628C |
| A5692G |
| G5703A |
| G8342A |
| A12308G |
| T12311C |
| G12315A |
| CPEO (CHRONIC PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA) |
|
MTTK (TRANSFER RNA, MITOCHONDRIAL, LYSINE) |
| CPEO (CHRONIC PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA) |
|
MTTL1
(TRANSFER RNA, MITOCHONDRIAL, LEUCINE, 1) |
| CPEO (CHRONIC PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA) |
|
MTTY (TRANSFER RNA, MITOCHONDRIAL, TYROSINE) |
| CYTOCHROME c OXIDASE DEFICIENCY |
220110 |
MTTS1
(TRANSFER RNA, MITOCHONDRIAL, SERINE, 1) |
| DEAFNESS |
. |
A1555G |
| 7472insC |
| T7511C |
| A7445G |
| 961delT/insC |
| T961G |
| T1095C |
| C1494T |
| A827G |
| T1005C |
| T1291C |
| T1243C |
| A1116G |
All 10 mutations in the MTRNR1 and MTTS1 genes associated with non-syndromic hearing loss : A1555G, 961delT/insC, T961G, T1095C, C1494T,
A827G, T1005C, T1291C,T1243C and A1116G |
| DEAFNESS |
|
MTRNR1(RIBOSOMAL RNA, MITOCHONDRIAL, 12S) |
| DEAFNESS, AMINOGLYCOSIDE-INDUCED |
580000 |
MTRNR1(RIBOSOMAL RNA, MITOCHONDRIAL, 12S) |
| DEAFNESS AND MIGRAINE |
|
MTTQ (TRANSFER RNA, MITOCHONDRIAL, GLUTAMINE) |
DEAFNESS AND DIABETES |
. |
A3243G |
| DEAFNESS AND DIABETES |
|
MTTK (TRANSFER RNA, MITOCHONDRIAL, LYSINE) |
| DEAFNESS AND PIGMENTARY RETINOPATHY |
|
MTTH (TRANSFER RNA, MITOCHONDRIAL, HISTIDINE) |
| DYSTONIA, ADULT-ONSET |
|
MTND1
(COMPLEX 1, SUBUNIT ND1, NADH-UBIQUINONE OXIDOREDUCTASE, SUBUNIT
ND1NADH
DEHYDROGENASE, SUBUNIT 1) |
DYSTONIA, FAMILIAL, WITH VISUAL FAILURE AND STRIATAL LUCENCIES
» LEBER
OPTIC ATROPHY AND DYSTONIA
» MARSDEN SYNDROME |
500001 |
MTND4
(COMPLEX 1, SUBUNIT ND4, NADH-UBIQUINONE OXIDOREDUCTASE, SUBUNIT
ND4NADH DEHYDROGENASE, SUBUNIT 4) |
DYSTONIA,
FAMILIAL, WITH VISUAL FAILURE AND STRIATAL LUCENCIES
» LEBER OPTIC ATROPHY AND DYSTONIA
» MARSDEN SYNDROME |
500001 |
MTND6
(COMPLEX 1, SUBUNIT ND6, NADH-UBIQUINONE OXIDOREDUCTASE, SUBUNIT
ND6NADH DEHYDROGENASE, SUBUNIT 6) |
| ENCEPHALOMYOPATHY |
|
MTCYB (CYTOCHROME b OF COMPLEX 3, COMPLEX 3, CYTOCHROME b SUBUNITUBIQUINONE-CYTOCHROME
c OXIDOREDUCTASE, CYTOCHROME b SUBUNIT) |
| ENCEPHALOMYOPATHY |
|
MTTL1
(TRANSFER RNA, MITOCHONDRIAL, LEUCINE, 1) |
| ENCEPHALOMYOPATHY |
|
MTTL2
(TRANSFER RNA, MITOCHONDRIAL, LEUCINE, 2) |
| ENCEPHALOMYOPATHY |
|
MTTW (TRANSFER RNA, MITOCHONDRIAL, TRYPTOPHAN) |
| ENCEPHALOPATHY, FAMILIAL PROGRESSIVE NECROTIZING |
|
MTTI (TRANSFER RNA, MITOCHONDRIAL, ISOLEUCINE) |
| EXERCISE INTOLERANCE |
|
MTCYB (CYTOCHROME b OF COMPLEX 3, COMPLEX 3, CYTOCHROME b SUBUNITUBIQUINONE-CYTOCHROME
c OXIDOREDUCTASE, CYTOCHROME b SUBUNIT) |
| EXERCISE
INTOLERANCE |
|
MTTG (TRANSFER RNA, MITOCHONDRIAL, GLYCINE) |
| EXERCISE INTOLERANCE AND COMPLEX 3 DEFICIENCY |
|
MTTY (TRANSFER RNA, MITOCHONDRIAL, TYROSINE) |
| EXERCISE INTOLERANCE, CARDIOMYOPATHY, AND SEPTOOPTIC DYSPLASIA |
|
MTCYB (CYTOCHROME b OF COMPLEX 3, COMPLEX 3, CYTOCHROME b SUBUNITUBIQUINONE-CYTOCHROME
c OXIDOREDUCTASE, CYTOCHROME b SUBUNIT) |
| FOCAL SEGMENTAL GLOMERULOSCLEROSIS AND DILATED CARDIOMYOPATHY |
|
MTTY (TRANSFER RNA, MITOCHONDRIAL, TYROSINE) |
| HYPOMAGNESEMIA, HYPERTENSION, AND HYPERCHOLESTEROLEMIA |
500005 |
MTTI (TRANSFER RNA, MITOCHONDRIAL, ISOLEUCINE) |
| KEARNS-SAYRE SYNDROME (KSS) |
530000 |
4977
bp Deletion |
| KEARNS-SAYRE SYNDROME (KSS) |
530000 |
MTTL1
(TRANSFER RNA, MITOCHONDRIAL, LEUCINE, 1) |
KERATODERMA, PALMOPLANTAR, WITH DEAFNESS
» DEAFNESS, NONSYNDROMIC
SENSORINEURAL |
148350 |
MTTS1
(TRANSFER RNA, MITOCHONDRIAL, SERINE, 1) |
LEBER HEREDITARY OPTIC NEUROPATHY (LHON) |
535000 |
MTATP6
(ATP SYNTHASE 6, COMPLEX 5, ATP SYNTHASE, SUBUNIT ATPase 6, ATP6) |
| LEBER HEREDITARY OPTIC NEUROPATHY (LHON) |
535000 |
MTCO1
(COMPLEX 4, CYTOCHROME c OXIDASE SUBUNIT 1, CYTOCHROME c OXIDASE
1; COX1) |
| LEBER HEREDITARY OPTIC NEUROPATHY (LHON) |
535000 |
MTCO3
(COMPLEX 4, CYTOCHROME c OXIDASE SUBUNIT 3, CYTOCHROME c OXIDASE
3; COX3) |
| LEBER HEREDITARY OPTIC NEUROPATHY (LHON) |
535000 |
MTCYB (CYTOCHROME b OF COMPLEX 3, COMPLEX 3, CYTOCHROME b SUBUNITUBIQUINONE-CYTOCHROME
c OXIDOREDUCTASE, CYTOCHROME b SUBUNIT) |
| LEBER HEREDITARY OPTIC NEUROPATHY (LHON) |
535000 |
MTND1
(COMPLEX 1, SUBUNIT ND1, NADH-UBIQUINONE OXIDOREDUCTASE, SUBUNIT
ND1NADH
DEHYDROGENASE, SUBUNIT 1) |
| LEBER HEREDITARY OPTIC NEUROPATHY (LHON) |
535000 |
MTND2
(COMPLEX 1, SUBUNIT ND2, NADH-UBIQUINONE OXIDOREDUCTASE, SUBUNIT
ND2NADH DEHYDROGENASE, SUBUNIT 2) |
| LEBER HEREDITARY OPTIC NEUROPATHY (LHON) |
535000 |
MTND4
(COMPLEX 1, SUBUNIT ND4, NADH-UBIQUINONE OXIDOREDUCTASE, SUBUNIT
ND4NADH DEHYDROGENASE, SUBUNIT 4) |
| LEBER HEREDITARY OPTIC NEUROPATHY (LHON) |
535000 |
MTND6
(COMPLEX 1, SUBUNIT ND6, NADH-UBIQUINONE OXIDOREDUCTASE, SUBUNIT
ND6NADH DEHYDROGENASE, SUBUNIT 6) |
| LEBER HEREDITARY OPTIC NEUROPATHY (LHON) |
535000 |
G3460A |
| G11778A |
| C3275A |
| G3316A |
| T3394C |
| T4216C |
| G7444A |
| T9101C |
| G13708A |
| T14484C |
| G14459A |
| G15257A |
10
MUTATIONS: C3275A,
G3316A,
T3394C,
T4216C,
G7444A,
T9101C,
G13708A,
G14459A,
T14484C,
G15257A |
| LEIGH SYNDROME |
256000 |
MTATP6
(ATP SYNTHASE 6, COMPLEX 5, ATP SYNTHASE, SUBUNIT ATPase 6, ATP6) |
| LEIGH SYNDROME |
256000 |
MTCO3
(COMPLEX 4, CYTOCHROME c OXIDASE SUBUNIT 3, CYTOCHROME c OXIDASE
3; COX3) |
| LEIGH
SYNDROME |
256000 |
MTND3
(COMPLEX 1, SUBUNIT ND3, NADH-UBIQUINONE OXIDOREDUCTASE, SUBUNIT
ND3NADH DEHYDROGENASE, SUBUNIT 3) |
| LEIGH
SYNDROME |
256000 |
MTND5
(COMPLEX 1, SUBUNIT ND5, NADH-UBIQUINONE OXIDOREDUCTASE, SUBUNIT
ND5NADH DEHYDROGENASE, SUBUNIT 5) |
| LEIGH
SYNDROME |
256000 |
MTND6
(COMPLEX 1, SUBUNIT ND6, NADH-UBIQUINONE OXIDOREDUCTASE, SUBUNIT
ND6NADH DEHYDROGENASE, SUBUNIT 6) |
| LEIGH
SYNDROME |
256000 |
MTTK (TRANSFER RNA, MITOCHONDRIAL, LYSINE) |
| LEIGH
SYNDROME |
256000 |
MTTL1
(TRANSFER RNA, MITOCHONDRIAL, LEUCINE, 1) |
| LEIGH
SYNDROME |
256000 |
MTTV (TRANSFER RNA, MITOCHONDRIAL, VALINE) |
| LEIGH
SYNDROME |
256000 |
MTTW (TRANSFER RNA, MITOCHONDRIAL, TRYPTOPHAN) |
| LEIGH
SYNDROME |
256000 |
T8993C |
| T8993G |
| C1177A |
| C1624T |
| T9176C |
| T9176G |
| 9537insC |
| A13084T |
| G13513A |
| G14459A |
| MELAS
SYNDROME (MITOCHONDRIAL MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS,
AND STROKE-LIKE EPISODES) |
540000 |
A3271G |
| T8356C |
| A13084T |
| G13513A |
| C3093G |
| A3252G |
| C3256T |
| A3260G |
| T3291C |
| T3308C |
| A13514G |
7 MUTATIONS:
C3093G,
A3252G,
C3256T,
A3260G,
T3291C,
T3308C,
A13514G |
| MELAS SYNDROME (MITOCHONDRIAL MYOPATHY, ENCEPHALOPATHY, LACTIC
ACIDOSIS, AND STROKE-LIKE EPISODES) |
540000 |
MTND1
(COMPLEX 1, SUBUNIT ND1, NADH-UBIQUINONE OXIDOREDUCTASE, SUBUNIT
ND1NADH
DEHYDROGENASE, SUBUNIT 1) |
| MELAS
SYNDROME (MITOCHONDRIAL MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS,
AND STROKE-LIKE EPISODES) |
540000 |
MTND5
(COMPLEX 1, SUBUNIT ND5, NADH-UBIQUINONE OXIDOREDUCTASE, SUBUNIT
ND5NADH DEHYDROGENASE, SUBUNIT 5) |
| MELAS
SYNDROME (MITOCHONDRIAL MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS,
AND STROKE-LIKE EPISODES) |
540000 |
MTND6
(COMPLEX 1, SUBUNIT ND6, NADH-UBIQUINONE OXIDOREDUCTASE, SUBUNIT
ND6NADH DEHYDROGENASE, SUBUNIT 6) |
| MELAS SYNDROME(MITOCHONDRIAL MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS,
AND STROKE-LIKE EPISODES) |
540000 |
MTTF (TRANSFER RNA, MITOCHONDRIAL, PHENYLALANINE) |
| MELAS
SYNDROME (MITOCHONDRIAL MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS,
AND STROKE-LIKE EPISODES) |
540000 |
MTTH (TRANSFER RNA, MITOCHONDRIAL, HISTIDINE) |
| MELAS
SYNDROME (MITOCHONDRIAL MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS,
AND STROKE-LIKE EPISODES) |
540000 |
MTTK (TRANSFER RNA, MITOCHONDRIAL, LYSINE) |
| MELAS
SYNDROME (MITOCHONDRIAL MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS,
AND STROKE-LIKE EPISODES) |
540000 |
MTTL1
(TRANSFER RNA, MITOCHONDRIAL, LEUCINE, 1) |
| MELAS
SYNDROME (MITOCHONDRIAL MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS,
AND STROKE-LIKE EPISODES) |
540000 |
MTTS1
(TRANSFER RNA, MITOCHONDRIAL, SERINE, 1) |
| MELAS
SYNDROME (MITOCHONDRIAL MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS,
AND STROKE-LIKE EPISODES) |
540000 |
MTTQ (TRANSFER RNA, MITOCHONDRIAL, GLUTAMINE) |
| MERRF SYNDROME (MYOCLONIC EPILEPSY ASSOCIATED WITH RAGGED-RED FIBERS) |
545000 |
MTND5
(COMPLEX 1, SUBUNIT ND5, NADH-UBIQUINONE OXIDOREDUCTASE, SUBUNIT
ND5NADH DEHYDROGENASE, SUBUNIT 5) |
| MERRF
SYNDROME (MYOCLONIC EPILEPSY ASSOCIATED WITH RAGGED-RED FIBERS) |
545000 |
MTTF (TRANSFER RNA, MITOCHONDRIAL, PHENYLALANINE) |
| MERRF
SYNDROME (MYOCLONIC EPILEPSY ASSOCIATED WITH RAGGED-RED FIBERS) |
545000 |
MTTH (TRANSFER RNA, MITOCHONDRIAL, HISTIDINE) |
| MERRF
SYNDROME (MYOCLONIC EPILEPSY ASSOCIATED WITH RAGGED-RED FIBERS) |
545000 |
MTTK (TRANSFER RNA, MITOCHONDRIAL, LYSINE) |
| MERRF
SYNDROME (MYOCLONIC EPILEPSY ASSOCIATED WITH RAGGED-RED FIBERS) |
545000 |
MTTL1
(TRANSFER RNA, MITOCHONDRIAL, LEUCINE, 1) |
| MERRF
SYNDROME (MYOCLONIC EPILEPSY ASSOCIATED WITH RAGGED-RED FIBERS) |
545000 |
MTTS1
(TRANSFER RNA, MITOCHONDRIAL, SERINE, 1) |
| MERRF
SYNDROME (MYOCLONIC EPILEPSY ASSOCIATED WITH RAGGED-RED FIBERS) |
545000 |
T8356C |
| A8344G |
| A8296G |
| G8363A |
| MULTISYSTEM DISORDER |
|
MTCYB (CYTOCHROME b OF COMPLEX 3, COMPLEX 3, CYTOCHROME b SUBUNITUBIQUINONE-CYTOCHROME
c OXIDOREDUCTASE, CYTOCHROME b SUBUNIT) |
| MULTISYSTEM DISORDER |
|
MTTI (TRANSFER RNA, MITOCHONDRIAL, ISOLEUCINE) |
| MYELODYSPLASTIC SYNDROME |
|
MTTL1
(TRANSFER RNA, MITOCHONDRIAL, LEUCINE, 1) |
| MYOGLOBINURIA, RECURRENT |
|
MTCO1
(COMPLEX 4, CYTOCHROME c OXIDASE SUBUNIT 1, CYTOCHROME c OXIDASE
1; COX1) |
MYONEURAL GASTROINTESTINAL ENCEPHALOPATHY SYNDROME
» MITOCHONDRIAL
NEUROGASTROINTESTINAL ENCEPHALOMYOPATHY SYNDROME, MNGIE SYNDROME |
|
MTTK (TRANSFER RNA, MITOCHONDRIAL, LYSINE) |
| MYOPATHY |
251900 |
MTTC (TRANSFER RNA, MITOCHONDRIAL, CYSTEINE) |
| MYOPATHY |
251900 |
MTTD (TRANSFER RNA, MITOCHONDRIAL, ASPARTIC ACID) |
| MYOPATHY |
|
MTTL1
(TRANSFER RNA, MITOCHONDRIAL, LEUCINE, 1) |
| MYOPATHY |
251900 |
MTTL2
(TRANSFER RNA, MITOCHONDRIAL, LEUCINE, 2) |
| MYOPATHY |
251900 |
MTTP (TRANSFER RNA, MITOCHONDRIAL, PROLINE) |
| MYOPATHY |
251900 |
MTTQ (TRANSFER RNA, MITOCHONDRIAL, GLUTAMINE) |
| MYOPATHY |
251900 |
MTTR (TRANSFER RNA, MITOCHONDRIAL, ARGININE) |
| MYOPATHY |
251900 |
MTTW (TRANSFER RNA, MITOCHONDRIAL, TRYPTOPHAN) |
| MYOPATHY |
251900 |
T618C |
| A3243T |
| T3250C |
| A3251G |
| C3254G |
| A3259G |
| A3261G |
| A3266G |
| A3268G |
| A3288G |
| A3302G |
| 4370insC |
| T4409C |
| G4450A |
| G5521A |
| A12320G |
| G15762A |
| C15990T |
| MYOPATHY, MYOTONIC DYSTROPHY-LIKE |
590000 |
MTTA (TRANSFER RNA, MITOCHONDRIAL, ALANINE) |
MYOPATHY, WITH DIABETES MELLITUS
» MITOCHONDRIAL
MYOPATHY, LIPID TYPE |
500002 |
MTTE (TRANSFER RNA, MITOCHONDRIAL, LUTAMIC ACID) |
| NARP SYNDROME (NEUROPATHY WITH ATAXIA AND RETINITIS PIGMENTOSA) |
551500 |
MTATP6
(ATP SYNTHASE 6, COMPLEX 5, ATP SYNTHASE, SUBUNIT ATPase 6, ATP6) |
| NARP SYNDROME (NEUROPATHY WITH ATAXIA AND RETINITIS PIGMENTOSA) |
551500 |
T8993C |
| T8993G |
| NEONATAL DEATH |
|
MTTV (TRANSFER RNA, MITOCHONDRIAL, VALINE) |
| NEUROGASTROINTESTINAL SYNDROME |
|
MTTW (TRANSFER RNA, MITOCHONDRIAL, TRYPTOPHAN) |
| NEUROPSYCHIATRIC DISORDER AND EARLY-ONSET CATARACT |
|
MTTL1
(TRANSFER RNA, MITOCHONDRIAL, LEUCINE, 1) |
| NO DISEASE |
|
MTATP8
(ATP SYNTHASE 8, COMPLEX 5, ATP SYNTHASE, SUBUNIT ATPase 8, ATP8) |
| NO DISEASE |
|
MTTM (TRANSFER RNA, MITOCHONDRIAL, METHIONINE) |
| OBESITY |
601665 |
MTCYB (CYTOCHROME b OF COMPLEX 3, COMPLEX 3, CYTOCHROME b SUBUNITUBIQUINONE-CYTOCHROME
c OXIDOREDUCTASE, CYTOCHROME b SUBUNIT) |
| OPHTHALMOPLEGIA |
|
MTTN (TRANSFER RNA, MITOCHONDRIAL, ASPARAGINE) |
| PARKINSON DISEASE |
168600 |
MTND1
(COMPLEX 1, SUBUNIT ND1, NADH-UBIQUINONE OXIDOREDUCTASE, SUBUNIT
ND1NADH
DEHYDROGENASE, SUBUNIT 1) |
| PARKINSON DISEASE |
168600 |
MTTP (TRANSFER RNA, MITOCHONDRIAL, PROLINE) |
| PARKINSON DISEASE |
168600 |
MTTT (TRANSFER RNA, MITOCHONDRIAL, THREONINE) |
| PARKINSONISM / MELAS OVERLAP SYNDROME |
|
MTCYB (CYTOCHROME b OF COMPLEX 3, COMPLEX 3, CYTOCHROME b SUBUNITUBIQUINONE-CYTOCHROME
c OXIDOREDUCTASE, CYTOCHROME b SUBUNIT) |
| SEIZURES AND LACTIC ACIDOSIS |
|
MTATP6
(ATP SYNTHASE 6, COMPLEX 5, ATP SYNTHASE, SUBUNIT ATPase 6, ATP6) |
| SIDEROBLASTIC ANEMIA, ACQUIRED IDIOPATHIC |
|
MTCO1
(COMPLEX 4, CYTOCHROME c OXIDASE SUBUNIT 1, CYTOCHROME c OXIDASE
1; COX1) |
STRIATONIGRAL DEGENERATION, INFANTILE
» BILATERAL
STRIATAL NECROSIS, INFANTILE, MITOCHONDRIAL |
256000 |
MTATP6
(ATP SYNTHASE 6, COMPLEX 5, ATP SYNTHASE, SUBUNIT ATPase 6, ATP6) |
| SUDDEN INFANT DEATH SYNDROME |
272120 |
MTND1
(COMPLEX 1, SUBUNIT ND1, NADH-UBIQUINONE OXIDOREDUCTASE, SUBUNIT
ND1NADH
DEHYDROGENASE, SUBUNIT 1) |
| SUDDEN
INFANT DEATH SYNDROME |
272120 |
MTTG (TRANSFER RNA, MITOCHONDRIAL, GLYCINE) |
| SUDDEN
INFANT DEATH SYNDROME |
272120 |
MTTL1
(TRANSFER RNA, MITOCHONDRIAL, LEUCINE, 1) |
Screening
for 9 Mitochondrial Mutations:
CPEO (CHRONIC PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA)
KEARNS-SAYRE SYNDROME (KSS)
LEBER HEREDITARY OPTIC NEUROPATHY (LHON)
LEIGH SYNDROME
MELAS SYNDROME (MITOCHONDRIAL MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS, AND STROKE-LIKE EPISODES)
MERRF SYNDROME (MYOCLONIC EPILEPSY ASSOCIATED WITH RAGGED-RED FIBERS)
NARP SYNDROME (NEUROPATHY WITH ATAXIA AND RETINITIS PIGMENTOSA) |
|
9
Mutations:
4977 bp Deletion,
G3460A,
G11778A,
T8993C,
T8993G,
A3271G,
A3243G,
T8356C,
A8344G |
