| 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
|
