MSeqDR Expert Panel Disease Curation Work List 
User comment on mitochondrial diseases and variants

 Share your knowledge about mitochondrial diseases, genes, variants and pathogenicity
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View mitochondrial diseases: 182 entries.


ID    
 

Abbreviation     

AscendingName     

OMIM ID     

Individuals     

Phenotypes     

Associated with genes
00467 HADH Dificiency 3-@HYDROXYACYL-CoA DEHYDROGENASE; HADH 231530 0 0 , HADH
00484 MEGDEL 3-METHYLGLUTACONIC ACIDURIA WITH DEAFNESS, ENCEPHALOPATHY, AND LEIGH-LIKE SYNDROME; MEGDEL 614739 0 0 SERAC1
00495 MGCA1 3-METHYLGLUTACONIC ACIDURIA, TYPE I; MGCA1 250950 0 0 AUH
00496 MGCA3 3-METHYLGLUTACONIC ACIDURIA, TYPE III; MGCA3 258501 0 0 OPA3
00079 MGCA5 3-METHYLGLUTACONIC ACIDURIA, TYPE V; MGCA5 610198 0 0 DNAJC19
00419 611126 ACYL-CoA DEHYDROGENASE FAMILY, MEMBER 9, DEFICIENCY OF 611126 0 0 ACAD9
00434 ACADMD ACYL-CoA DEHYDROGENASE, MEDIUM-CHAIN, DEFICIENCY OF; ACADMD 201450 0 0 ACADM
00435 ACADSD ACYL-CoA DEHYDROGENASE, SHORT-CHAIN, DEFICIENCY OF; ACADSD 201470 0 0 ACADS
00436 ACADVLD ACYL-CoA DEHYDROGENASE, VERY LONG-CHAIN, DEFICIENCY OF; ACADVLD 201475 0 0 ACADVL
00147 502000 AGING aging represents a phenotype seemingly related to changes in mitochondrial DNA 502000 0 0 -
00081 610251 Alcohol sensitivity, acute, 610251 (3) 610251 0 0 ALDH2
00402 203750 ALPHA-METHYLACETOACETIC ACIDURIA 203750 0 0 ACAT1
00161 502500 ALZHEIMER DISEASE, SUSCEPTIBILITY TO, MITOCHONDRIAL 502500 0 0 -
00083 SPAX4 Ataxia, spastic, 4, 613672 (3) 613672 0 0 MTPAP
00141 MTATP6 ATP SYNTHASE 6;;MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, MITOCHONDRIAL TYPE 1, INCLUDED 516060 0 0 , MT-ATP6
00399 BTHS BARTH SYNDROME; BTHS 302060 0 0 TAZ
00084 BJS Bjornstad syndrome, 262000 (3) 262000 0 0 BCS1L
00085 237300 Carbamoylphosphate synthetase I deficiency;CPS I DEFICIENCY 237300 0 0 CPS1
00482 CEMCOX1 CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME c OXIDASE DEFICIENCY 1; CEMCOX1 604377 0 0 SCO2
00086 CMD1GG Cardiomyopathy, dilated, 1GG, 613642 (3) 613642 0 0 SDHA
00151 500000 CARDIOMYOPATHY, INFANTILE HISTIOCYTOID 500000 0 0 MT-CYB
00438 212160 CARNITINE DEFICIENCY, MYOPATHIC 212160 0 0 -
00473 CDSP CARNITINE DEFICIENCY, SYSTEMIC PRIMARY; CDSP 212140 0 0 SLC22A5
00440 255120 CARNITINE PALMITOYLTRANSFERASE I DEFICIENCY 255120 0 0 -, CPT1A
00466 CPT II CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, INFANTILE;CPT2 600649 0 0 , CPT2
00486 255110 CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LATE-ONSET 255110 0 0 CPT2
00487 608836 CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LETHAL NEONATAL 608836 0 0 CPT2
00437 CACTD CARNITINE-ACYLCARNITINE TRANSLOCASE DEFICIENCY;CACTD 212138 0 0 SLC25A20
00444 CCDS3 CEREBRAL CREATINE DEFICIENCY SYNDROME 3; CCDS3 612718 0 0 GATM
00488 CMT2A2 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2A2; CMT2A2 609260 0 0 MFN2
00145 515000 CHLORAMPHENICOL TOXICITY;ANEMIA, CHLORAMPHENICOL-INDUCED;CHLORAMPHENICOL RESISTANCE, INCLUDED 515000 0 0 , MT-RNR2
00088 CTLN2 Citrullinemia, adult-onset type II, 603471 (3) 603471 0 0 SLC25A13
00089 605814 Citrullinemia, type II, neonatal-onset, 605814 (3) 605814 0 0 SLC25A13
00090 COQ10D1 Coenzyme Q10 deficiency, primary, 1, 607426 (3) 607426 0 0 COQ2
00446 COQ10D2 COENZYME Q10 DEFICIENCY, PRIMARY, 2; COQ10D2 614651 0 0 PDSS1
00447 COQ10D3 COENZYME Q10 DEFICIENCY, PRIMARY, 3; COQ10D3 614652 0 0 PDSS2
00443 COQ10D4 COENZYME Q10 DEFICIENCY, PRIMARY, 4; COQ10D4 612016 0 0 ADCK3
00448 COQ10D5 COENZYME Q10 DEFICIENCY, PRIMARY, 5; COQ10D5 614654 0 0 COQ9
00480 COQ10D6 COENZYME Q10 DEFICIENCY, PRIMARY, 6; COQ10D6 614650 0 0 COQ6
00091 D2L2AD Combined D-2- and L-2-hydroxyglutaric aciduria, 615182 (3) 615182 0 0 SLC25A1
00092 COXPD1 Combined oxidative phosphorylation deficiency 1, 609060 (3) 609060 0 0 GFM1
00093 COXPD10 Combined oxidative phosphorylation deficiency 10, 614702 (3) 614702 0 0 MTO1
00423 COXPD11 COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 11; COXPD11 614922 0 0 RMND1
00094 COXPD14 Combined oxidative phosphorylation deficiency 14, 614946 (3) 614946 0 0 FARS2
00095 COXPD15 Combined oxidative phosphorylation deficiency 15, 614947 (3) 614947 0 0 MTFMT
00080 COXPD16 Combined oxidative phosphorylation deficiency 16, 615395 (3) 615395 0 0 MRPL44
00096 COXPD2 Combined oxidative phosphorylation deficiency 2, 610498 (3) 610498 0 0 MRPS16
00097 COXPD3 Combined oxidative phosphorylation deficiency 3, 610505 (3) 610505 0 0 TSFM
00098 COXPD4 Combined oxidative phosphorylation deficiency 4, 610678 (3) 610678 0 0 TUFM
00099 COXPD5 Combined oxidative phosphorylation deficiency 5, 611719 (3) 611719 0 0 MRPS22
00411 COXPD6 COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 6; COXPD6 300816 0 0 AIFM1
00493 COXPD7 COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 7; COXPD7 613559 0 0 C12orf65
00076 COXPD8 COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 8; COXPD8 614096 0 0 AARS2
00100 COXPD9 Combined oxidative phosphorylation deficiency 9, 614582 (3) 614582 0 0 MRPL3
00150 CVS CYCLIC VOMITING SYNDROME; CVS 500007 0 0 MT-TL1
00465 MTCYB CYTOCHROME b OF COMPLEX III; MTCYB 516020 0 0 , MT-CYB
00101 613657 D-2-hydroxyglutaric aciduria 2, 613657 (3) 613657 0 0 IDH2
00051 580000 DEAFNESS, AMINOGLYCOSIDE-INDUCED;STREPTOMYCIN-INDUCED 580000 0 0 -, MT-CO1, MT-RNR1, TRMU
00489 DFNB1A DEAFNESS, AUTOSOMAL RECESSIVE 1A; DFNB1A 220290 0 0 GJB2, GJB3, GJB6
00159 500008 DEAFNESS, NONSYNDROMIC SENSORINEURAL, MITOCHONDRIAL 500008 0 0 -, MT-ND1, MT-RNR1, MT-TH, MT-TI, MT-TS1
00404 221745 DEAFNESS, SENSORINEURAL, AUTOSOMAL-MITOCHONDRIAL TYPE 221745 0 0 -
00165 MIDD DIABETES AND DEAFNESS, MATERNALLY INHERITED;MIDD 520000 0 0 MT-TE, MT-TK, MT-TL1
00102 NIDDM Diabetes mellitus, noninsulin-dependent, 125853 (3) 125853 0 0 ABCC8, AKT2, CAPN10, CDKAL1, ENPP1, GCGR, GCK, GPD2, HMGA1, HNF1B, HNF4A, IGF2BP2, IL6, INSR, IRS1, KCNJ11, LIPC, MAPK8IP1, NEUROD1, PAX4, 7 more
00164 520100 DIARRHEA, CHRONIC, WITH VILLOUS ATROPHY Links 520100 0 0 -
00401 614520 ENCEPHALOMYOPATHY, MITOCHONDRIAL, DUE TO VOLTAGE-DEPENDENT ANION CHANNEL DEFICIENCY 614520 0 0 -
00014 614388 Encephalopahty, lethal, due to defective mitochondrial peroxisomal fission, 614388 (3) 614388 0 0 DNM1L
00103 EIEE3 Epileptic encephalopathy, early infantile, 3, 609304 (3) 609304 0 0 SLC25A22
00491 FRDA;FRDA1;FA FRIEDREICH ATAXIA 1; FRDA;FRIEDREICH ATAXIA WITH RETAINED REFLEXES, INCLUDED; FARR, INCLUDED 229300 0 0 FXN
00104 603358 GRACILE syndrome, 603358 (3) 603358 0 0 BCS1L
00105 605911 HMG-CoA synthase-2 deficiency, 605911 (3);MITOCHONDRIAL HMG-CoA SYNTHASE DEFICIENCY 605911 0 0 HMGCS2
00405 238710 HYPERLYSINEMIA DUE TO DEFECT IN LYSINE TRANSPORT INTO MITOCHONDRIA 238710 0 0 -
00406 LUFT HYPERMETABOLISM DUE TO DEFECT IN MITOCHONDRIA;LUFT DISEASE 238800 0 0 -
00106 238970 Hyperornithinemia-hyperammonemia-homocitrullinemia syndrome, 238970 (3) 238970 0 0 SLC25A15
00148 500005 HYPOMAGNESEMIA, HYPERTENSION, AND HYPERCHOLESTEROLEMIA, MITOCHONDRIAL, caused by a mutation in the mitochondrial tRNA(Ile) gene (590045). MT-TI 500005 0 0 MT-TI
00107 612949 Hypomyelination, global cerebral, 612949 (3) 612949 0 0 SLC25A12
00416 606407 HYPOTONIA-CYSTINURIA SYNDROME 606407 0 0 -
00108 ICRD Infantile cerebellar-retinal degeneration, 614559 (3)??mitochondrial? 614559 0 0 ACO2
00143 KSS KEARNS-SAYRE SYNDROME, caused by various mitochondrial deletions 530000 0 0 MT-TL1
00149 LDYT LEBER OPTIC ATROPHY AND DYSTONIA, alt: LEBER HEREDITARY OPTIC NEUROPATHY WITH DYSTONIA; LDYT;; DYSTONIA, FAMILIAL, WITH VISUAL FAILURE AND STRIATAL LUCENCIES;; MARSDEN SYNDROME 500001 0 0 MT-ND1, MT-ND3, MT-ND4, MT-ND6
00072 LHON LEBER OPTIC ATROPHY, LEBER HEREDITARY OPTIC NEUROPATHY; DOID:705 535000 0 0 -, MT-ATP6, MT-CO3, MT-CYB, MT-ND1, MT-ND2, MT-ND4, MT-ND4L, MT-ND5, MT-ND6
00492 LOAS LEBER OPTIC ATROPHY, SUSCEPTIBILITY TO;LHON, MODIFIER OF;LOAS 308905 0 0 -
00015 LS Leigh syndrome due to mitochondrial complex 1 deficiency, 256000 (3) 256000 1 0 BCS1L, COX10, COX15, FOXRED1, MT-ATP6, MT-TK, MT-TV, MT-TW, NDUFA10, NDUFA12, NDUFA2, NDUFA9, NDUFAF2, NDUFAF6, NDUFS3, NDUFS4, NDUFS7, NDUFS8, SDHA, SURF1
00389 LSFC Leigh syndrome, French-Canadian type, 220111 (3) 220111 0 0 LRPPRC
00390 308930 Leigh syndrome, X-linked, 308930 (3) 308930 0 0 PDHA1
00421 HLD4 LEUKODYSTROPHY, HYPOMYELINATING, 4; HLD4 612233 0 0 HSPD1
00418 611105 LEUKOENCEPHALOPATHY WITH BRAINSTEM AND SPINAL CORD INVOLVEMENT AND 611105 0 0 DARS2
00494 MSL LIPOMATOSIS, MULTIPLE SYMMETRIC; MSL 151800 0 0 MFN2
00110 LFIT Liver failure, transient infantile, 613070 (3) 613070 0 0 TRMU, TRNT1
00474 LCHAD LONG-CHAIN 3-HYDROXYACYL-CoA DEHYDROGENASE DEFICIENCY 609016 0 0 , HADHA
00112 MCPHA Microcephaly, Amish type, 607196 (3) 607196 0 0 SLC25A19
00010 615228 Mitochondrial complex (ATP synthase) deficiency, nuclear type 4, 615228 (3) 615228 0 0 ATP5A1
00011 252010 Mitochondrial complex I deficiency, 252010 (3) 252010 0 0 FOXRED1, MT-ND1, MT-ND2, MT-ND3, MT-ND4, MT-TN, NDUFA1, NDUFA11, NDUFAF1, NDUFAF2, NDUFAF3, NDUFAF4, NDUFAF5, NDUFB3, NDUFB9, NDUFS1, NDUFS2, NDUFS3, NDUFS4, NDUFS6, 4 more
00016 252011 Mitochondrial complex II deficiency, 252011 (3) 252011 0 0 SDHA, SDHAF1
00017 MC3DN1 Mitochondrial complex III deficiency, nuclear type 1, 124000 (3) 124000 0 0 BCS1L, UQCRB
00018 MC3DN2 Mitochondrial complex III deficiency, nuclear type 2, 615157 (3) 615157 0 0 TTC19
00019 MC3DN3 Mitochondrial complex III deficiency, nuclear type 3, 615158 (3) 615158 0 0 , UQCRB
00020 MC3DN4 Mitochondrial complex III deficiency, nuclear type 4, 615159 (3) 615159 0 0 UQCRQ
00021 MC3DN5 Mitochondrial complex III deficiency, nuclear type 5, 615160 (3) 615160 0 0 UQCRC2
00022 MC3DN6 Mitochondrial complex III deficiency, nuclear type 6, 615453 (3) 615453 0 0 CYC1
00012 220110 Mitochondrial complex IV deficiency, 220110 (3) 220110 2 0 APOPT1, COA5, COX10, COX14, COX20, COX6B1, FASTKD2, MT-CO1, MT-CO2, MT-CO3, MT-TL1, MT-TN, SCO1, SURF1, TACO1
00023 604273 Mitochondrial complex V (ATP synthase) deficiency, nuclear type 1, 604273 (3) 604273 0 0 ATPAF2
00024 614052 Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2, 614052 (3) 614052 0 0 TMEM70
00025 614053 Mitochondrial complex V (ATP synthase) deficiency, nuclear type 3, 614053 (3) 614053 0 0 ATP5E
00026 MTDPS1 Mitochondrial DNA depletion syndrome 1 (MNGIE type), 603041 (3) 603041 0 0 MT-TK, POLG, TYMP
00027 MTDPS11 Mitochondrial DNA depletion syndrome 11, 615084 (3) 615084 0 0 MGME1
00028 MTDPS12 Mitochondrial DNA depletion syndrome 12 (cardiomyopathic type), 615418 (3) 615418 0 0 SLC25A4
00029 MTDPS13 Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type);MTDPS13 615471 0 0 FBXL4
00030 MTDPS2 Mitochondrial DNA depletion syndrome 2 (myopathic type), 609560 (3) 609560 0 0 TK2
00031 MTDPS3 Mitochondrial DNA depletion syndrome 3 (hepatocerebral type), 251880 (3) 251880 0 0 C10orf2, DGUOK
00032 MTDPS4A Mitochondrial DNA depletion syndrome 4A (Alpers type), 203700 203700 0 0 POLG
00033 MTDPS4B Mitochondrial DNA depletion syndrome 4B (MNGIE type), 613662 (3) 613662 0 0 POLG
00034 612073 Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria), 612073 (3) 612073 0 0 SUCLA2
00035 MTDPS6 Mitochondrial DNA depletion syndrome 6 (hepatocerebral type), 256810 (3) 256810 0 0 MPV17
00036 MTDPS7 Mitochondrial DNA depletion syndrome 7 (hepatocerebral type), 271245 (3) 271245 0 0 C10orf2
00037 612075 Mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy), 612075 (3) 612075 0 0 RRM2B
00038 245400 Mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria), 245400 (3) 245400 0 0 SUCLG1
00039 MLASA1 Mitochondrial myopathy and sideroblastic anemia 1, 600462 (3) 600462 0 0 , PUS1
00407 251945 MITOCHONDRIAL MYOPATHY WITH A DEFECT IN MITOCHONDRIAL-PROTEIN TRANSPORT 251945 0 0 -
00146 500002 MITOCHONDRIAL MYOPATHY WITH DIABETES 500002 0 0 , MT-TE
00408 251950 MITOCHONDRIAL MYOPATHY WITH LACTIC ACIDOSIS 251950 0 0 -
00163 MELAS SYNDROME MITOCHONDRIAL MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS, AND STROKE-LIKE EPISODES;DOID:3687 540000 1 2 MT-ND1, MT-ND4, MT-ND5, MT-ND6, MT-TC, MT-TF, MT-TH, MT-TK, MT-TL1, MT-TQ, MT-TS1, MT-TS2
00158 MMIT MITOCHONDRIAL MYOPATHY, INFANTILE, TRANSIENT;MMIT 500009 0 0 MT-TE
00172 LIMM MITOCHONDRIAL MYOPATHY, LETHAL, INFANTILE 551000 0 0 -
00400 CPEO,CPEO Plus MITOCHONDRIAL MYOPATHY: CPEO, CPEO "Plus" DOID:12558, Chronic progressive external ophthalmoplegia 251900 0 0 MT-TA, MT-TL2, MT-TM, MT-TW
00040 610773 Mitochondrial phosphate carrier deficiency, 610773 (3) 610773 0 0 SLC25A3
00041 MPYCD Mitochondrial pyruvate carrier deficiency, 614741 (3) 614741 0 0 MPC1
00042 SANDO Mitochondrial recessive ataxia syndrome (includes SANDO and SCAE), 607459 (3) 607459 0 0 C10orf2, POLG
00113 MTS Mohr-Tranebjaerg syndrome, 304700 (3) 304700 0 0 TIMM8A
00464 201460 MOVED TO 201475 201460 0 0 ACADVL
00439 MADD MULTIPLE ACYL-CoA DEHYDROGENASE DEFICIENCY; MADD 231680 0 0 , ETFA, ETFB, ETFDH
00043 MMDS1 Multiple mitochondrial dysfunctions syndrome 1, 605711 (3) 605711 0 0 NFU1
00044 MMDS2 Multiple mitochondrial dysfunctions syndrome 2, 614299 (3) 614299 0 0 BOLA3
00013 MMDS3 Multiple mitochondrial dysfunctions syndrome 3, 615330 (3) 615330 0 0 IBA57
00415 MDCMC MUSCULAR DYSTROPHY, CONGENITAL, MEGACONIAL TYPE; MDCMC 602541 0 0 CHKB
00162 MERRF MYOCLONIC EPILEPSY ASSOCIATED WITH RAGGED-RED FIBERS; MERRF SYNDROME 545000 1 0 MT-ND5, MT-TF, MT-TH, MT-TK, MT-TL1, MT-TS1, MT-TS2
00166 550500 MYOGLOBINURIA, RECURRENT 550500 0 0 MT-CO1
00409 255140 MYOPATHY WITH GIANT ABNORMAL MITOCHONDRIA 255140 0 0 -
00476 HML MYOPATHY WITH LACTIC ACIDOSIS, HEREDITARY; HML 255125 0 0 ISCU
00472 MLASA2 MYOPATHY, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA 2; MLASA2 613561 0 0 YARS2
00045 613076 Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay, 613076 (3) 613076 0 0 GFER
00433 161700 NECROTIZING ENCEPHALOMYELOPATHY, SUBACUTE, OF LEIGH, ADULT 161700 0 0 -
00171 551200 NEPHROPATHY, CHRONIC TUBULOINTERSTITIAL 551200 0 0 -
00422 NBIA4 NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 4; NBIA4 614298 0 0 C19orf12
00392 NF2 Neurofibromatosis, type 2, 101000 (3) 101000 0 0 NF2
00168 NARP SYNDROME NEUROPATHY, ATAXIA, AND RETINITIS PIGMENTOSA;NARP SYNDROME 551500 0 0 MT-ATP6
00485 HSMN6 NEUROPATHY, HEREDITARY MOTOR AND SENSORY, TYPE VI; HSMN6 601152 0 0 MFN2
00114 601665 Obesity, autosomal dominant, 601665 (3) 601665 0 0 -, ADRB2, ADRB3, CARTPT, ENPP1, GHRL, KANK1, LEPR, MC4R, more than 10, MRAP2, MT-CYB, PYY, UCP1, UCP3
00167 553000 ONCOCYTOMA 553000 0 0 , MT-ND6
00410 258470 OPHTHALMOPLEGIC NEUROMUSCULAR DISORDER WITH ABNORMAL MITOCHONDRIA 258470 0 0 -
00073 OPA1 OPTIC ATROPHY 1; OPA1 165500 0 0 OPA1
00170 556500 PARKINSON DISEASE, MITOCHONDRIAL 556500 0 0 MT-TK, NDUFV2
00169 557000 PEARSON MARROW-PANCREAS SYNDROME 557000 0 0 -
00046 261650 PEPCK deficiency, mitochondrial, 261650 (1) 261650 0 0 , PCK2
00483 PRLTS2 PERRAULT SYNDROME 2; PRLTS2 614926 0 0 HARS2
00116 PRLTS4 Perrault syndrome 4, 615300 (3) 615300 0 0 LARS2
00420 PCH6 PONTOCEREBELLAR HYPOPLASIA, TYPE 6; PCH6 611523 0 0 RARS2
00047 609283 Progressive external ophthalmoplegia with mitochondrial DNA deletions 3, 609283 (3) 609283 0 0 SLC25A4
00048 610131 Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4, 610131 (3) 610131 0 0 POLG2
00074 PEOA3 PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT, 3; PEOA3 609286 0 0 C10orf2
00049 PEOA5 Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 5, PEOA5 613077 0 0 RRM2B
00050 PEOA6 Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 6, PEOA6 615156 0 0 DNA2
00117 PEOA1 Progressive external ophthalmoplegia, autosomal dominant, 157640 (3) 157640 0 0 POLG
00118 258450 Progressive external ophthalmoplegia, autosomal recessive, 258450 (3) 258450 0 0 POLG
00412 600706 PROXIMAL MYOPATHY WITH FOCAL DEPLETION OF MITOCHONDRIA 600706 0 0 -
00398 266150 Pyruvate carboxylase deficiency, 266150 (3) 266150 0 0 PC
00442 PDHAD PYRUVATE DEHYDROGENASE E1-ALPHA DEFICIENCY; PDHAD 312170 0 0 , PDHA1
00478 PDHBD PYRUVATE DEHYDROGENASE E1-BETA DEFICIENCY; PDHBD 614111 0 0 PDHB
00475 PDHDD PYRUVATE DEHYDROGENASE E2 DEFICIENCY; PDHDD 245348 0 0 DLAT
00479 PDHLD PYRUVATE DEHYDROGENASE LIPOIC ACID SYNTHETASE DEFICIENCY; PDHLD 614462 0 0 LIAS
00477 PDHPD PYRUVATE DEHYDROGENASE PHOSPHATASE DEFICIENCY; PDHPD 608782 0 0 PDP1
00144 560000 RENAL TUBULOPATHY, DIABETES MELLITUS, AND CEREBELLAR ATAXIA, caused by duplication of mitochondrial DNA 560000 0 0 -
00119 267500 Reticular dysgenesis, 267500 (3) 267500 0 0 AK2
00160 500004 RETINITIS PIGMENTOSA-DEAFNESS SYNDROME 500004 0 0 CDH23, CLRN1, DFNB31, GPR98, MT-TS2, MYO7A, PCDH15, USH1C, USH1G, USH2A
00403 212350 SENGERS SYNDROME 212350 0 0 AGK
00497 SPG7 SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE; SPG7 607259 0 0 -
00498 SCA28 SPINOCEREBELLAR ATAXIA 28; SCA28 610246 0 0 AFG3L2
00157 500003 STRIATONIGRAL DEGENERATION, INFANTILE, MITOCHONDRIAL 500003 0 0 MT-ATP6
00075 SNDI STRIATONIGRAL DEGENERATION, INFANTILE; SNDI 271930 0 0 NUP62
00417 609015 TRIFUNCTIONAL PROTEIN DEFICIENCY 609015 0 0 HADHA, HADHB
00490 WFS2 WOLFRAM SYNDROME 2; WFS2 604928 0 0 CISD2
00156 598500 WOLFRAM SYNDROME, MITOCHONDRIAL FORM 598500 0 0 -
00125 PHN {Pulmonary hypertension, neonatal, susceptibility to}, 615371 (3) 615371 0 0 CPS1