Mitochondria Phenome Knowledgebase

Phenotypic Feature Encephalopathy finds 101 Gene-Feature associations that are associated with 75 Genes

Gene OMIM Disease Phenotypic Feature Phenotype Annotation Clinical Category PMIDs
ABAT 137150 Leukoencephalopathy leukodystrophy neurologic 6148708
ABCD1 300100 Leukoencephalopathy adrenoleukodystrophy; leukodystrophy; white matter demyelination; white matter degeneration; inflammatory myelinopathy; myelinopathy neurologic 961799 9702690 10369742 10426149 10980309 11204280 11438993 11810273 12210797 14586615 15564782 16130276 16672758
ACADM 201450 Encephalopathy acute encephalopathy neurologic 7876853 11263545 11524729
ACADVL 201475 Encephalopathy neurologic 9709714
ALDH5A1 271980 Encephalopathy slowly progressive; static encephalopathy neurologic 12743223 15059623
AMACR 604489 Encephalopathy metabolic encephalopathy neurologic 11861706 15249642
AMACR 604489 Leukoencephalopathy MRI findings; white matter abnormal; deep white matter changes neurologic 15249642
AMT 605899 Encephalopathy glycine encephalopathy neurologic 8005589 11139253 12948742 16450403
ATP7B 277900 Encephalopathy hepatic encephalopathy; systemic encephalopathy neurologic 9706533 11060541
ATP7B 277900 Leukoencephalopathy MRI findings; signal intensity abnormalities; white matter abnormal; metachromatic leukodystrophy; leukodystrophy neurologic 8585490 15146013 15909172
ATPAF2 604273 Leukoencephalopathy white matter disease; white matter hypoplasia neurologic 14757859
AUH 250950 Encephalopathy hypoxic ischemic neurologic 9762598
BCKDHA 248600 Encephalopathy brain dysfunction; encephalopatic; full fontanels neurologic 12042535 12118532 14517957
BCKDHB 248600 Encephalopathy neurologic 14517957
BCS1L 124000 Leukoencephalopathy leukodystrophy neurologic 11528392
BCS1L 124000 Encephalopathy encephalomyelopathy; Leigh like neurologic 11528392 12910490
COX10 220110 Leukoencephalopathy leukodystrophy; progressive leukodystrophy; CT findings; white matter abnormal; hemispheral white matter hypodensities neurologic 2834526 10767350
COX10 220110 Encephalopathy encephalomyelopathy; Leigh like neurologic 10767350 12928484
COX15 220110 Encephalopathy encephalomyelopathy; Leigh like neurologic 15235026 15863660
COX15 220110 Leukoencephalopathy cerebellar white matter abnormalities neurologic 15863660
CPS1 237300 Encephalopathy hyperammonia related; neurotoxicity; hyperammonemic encephalopathy; encephalomalacia neurologic 11301219 12655559 15617192
CPT1A 255120 Encephalopathy encephalopatic; episodes neurologic 9691089 11286380 11441142 16146704
CYP27A1 213700 Leukoencephalopathy MRI findings; white matter abnormal; supratentorial white matter abnormal; periventricular white matter abnormal; cerebellar white matter abnormal; white matter lesions neurologic 3344851 10430841 10775536 14572142 16278884
DBT 248600 Encephalopathy brain dysfunction; encephalopatic episodes neurologic 12118532 14517957 14742428
DBT 248600 Leukoencephalopathy leukodystrophy; MRI findings neurologic 14742428
DGUOK 251880 Encephalopathy severe; neurological abnormalities; hepatocerebral MDS neurologic 11687800 12210798 15883261 16263314
DLD 248600 Encephalopathy encephalomyelopathy; subacute necrotizing encephalomyelopathy; Leigh like neurologic 2909916 8652022 9934985 12925875 14765544
DLST 203740 Encephalopathy progressive; severe neurologic 8295396
ECGF1 603041 Leukoencephalopathy MRI findings; patchy lesions; patchy leukoencephalopathy; diffuse leukoencephalopathy; periventricular; bifrontal; white matter abnormal neurologic 9683610 12177387 14720311 14757860 15607208 15781193 16120316 16178026 16198108 16294144 16498612
ECGF1 603041 Encephalopathy encephalomyopathy neurologic 14720311 15781193 16120316
ETHE1 602473 Encephalopathy neurologic 1683940 7726376 12382164 14732903
FECH 177000 Encephalopathy grade I encephalopathy neurologic 16150949
FH 606812 Encephalopathy encephalopathy; metabolic neurologic 8200987 15221078
GCDH 231670 Encephalopathy infantile; encephalopathic crisis; encephalitis like; acute encephalopathy neurologic 7564239 9850748 9856558 10407775 10699052 10960496 11174631 11825066
GCDH 231670 Leukoencephalopathy MRI findings; signal intensity abnormalities; bilateral symmetric; myelinopathy; spongy myelinopathy; myelination impaired; white matter abnormal; supratentorial white matter abnormal; leukodystrophy neurologic 7795610 11825066 12473778 12888985 15985591
GCSH 605899 Encephalopathy neurologic 1671321
GFM1 609060 Encephalopathy hepatoencephalopathy neurologic 15537906
GLDC 605899 Encephalopathy glycine encephalopathy neurologic 1634607 10798358 16450403
HADH 231530 Encephalopathy neurologic 10347277 16176262
HADHA 609015 Encephalopathy metabolic encephalopathy neurologic 9739053 10352164 11855930 15902556
HADHA 609016 Encephalopathy encephalopathic; hepatic encephalopathy neurologic 8931405 10352164 14605499
HADHB 609015 Encephalopathy hepatic; acute neurologic 9259266 15902556
HD 143100 Leukoencephalopathy MRI findings; signal intensity abnormalities; periventricular leukomalacia (PVL); significant degeneration in white matter; white matter abnormal neurologic 1825793 15338298
HK1 235700 Leukoencephalopathy MRI findings; signal intensity abnormalities; injury of cerebral white matter; periventricular leucomalacia; PVL neurologic 12211198
HMGCL 246450 Leukoencephalopathy MRI findings; signal intensity abnormalities; white matter abnormal; subcortical white matter abnormal; cerebral white matter abnormal; supratentorial white matter abnormal; periventricular white matter abnormal neurologic 1886403 11461194
HSD17B10 300438 Leukoencephalopathy periventricular leukomalacia (PVL); white matter abnormal neurologic 15059617 16148061
IVD 243500 Encephalopathy acute encephalopathy; neonatal neurologic 2124776 15486829
LRPPRC 220111 Encephalopathy encephalomyelopathy; Leigh like neurologic 8392290 8392291
MCCC1 210200 Leukoencephalopathy MRI findings; signal intensity abnormalities; white matter abnormal; frontal white matter abnormal; subcortical white matter abnormal; temporal white matter abnormal; periventricular zones abnormal; leukodystrophy; metabolic leukodystrophy neurologic 11893004
MCCC2 210210 Encephalopathy encephalomalacia; necrotizing encephalomalacia; necrotizing encephalopathy neurologic 15877210
MLYCD 248360 Encephalopathy diffuse neurologic 9177981
MLYCD 248360 Leukoencephalopathy MRI findings; white matter abnormal; white matter signals altered; white matter loss neurologic 12955715 16275149
MPV17 256810 Leukoencephalopathy MRI findings; cerebral leukoencephalopathy; cerebellar leukoencephalopathy neurologic 2300261 10518083 11431741 16909392
NAGS 237310 Encephalopathy neurologic 12447942
NDUFA12L 252010 Encephalopathy encephalomalacia neurologic 16200211
NDUFA12L 252010 Leukoencephalopathy diagnostic criteria for leukoencephalopathy; vanishing white matter neurologic 16200211
NDUFS1 252010 Encephalopathy encephalomyelopathy; Leigh like neurologic 15824269
NDUFS1 252010 Leukoencephalopathy leukodystrophy; diffuse leukoencephalopathy neurologic 11349233 15576045
NDUFS2 252010 Encephalopathy encephalomyopathy neurologic 11220739
NDUFS2 252010 Leukoencephalopathy leukodystrophy neurologic 11220739
NDUFS3 252010 Encephalopathy encephalomyelopathy; Leigh like neurologic 14729820
NDUFS4 252010 Encephalopathy encephalomyelopathy; Leigh like neurologic 10944442 12616398
NDUFS4 252010 Leukoencephalopathy leukodystrophy neurologic 12616398
NDUFS6 252010 Encephalopathy no Leigh like lesions found neurologic 15372108
NDUFS7 252010 Encephalopathy encephalomyelopathy; Leigh like neurologic 1770777
NDUFS8 252010 Encephalopathy encephalomyelopathy; Leigh like neurologic 9837812 16142472
NDUFS8 252010 Leukoencephalopathy MRI; leukodystrophy; white matter hypodensity; Leigh like neurologic 9837812 15981016
NDUFV1 252010 Leukoencephalopathy leukodystrophy; macrocystic neurologic 10080174 15576045
NDUFV2 252010 Encephalopathy neurologic 12754703
OAT 258870 Encephalopathy hyperammonia related neurologic 16151897
OAT 258870 Leukoencephalopathy MRI findings; white matter abnormal; white matter lesions; white matter degeneration; degenerative lesions neurologic 10430418 10604138
OTC 311250 Neuronal-loss-and-lesions astrocytosis; astronecrosis; Alzheimer type II astrocytosis; myelination delayed; MRI findings; signal intensity abnormalities; front lobes; parietal lobes; cystic encephalopathy; putamen abnormal; nucleus caudatus abnormal; grey matter swelling; basal ganglia abnormal; neostriatum abnormal neurologic 3508674 10885542 11891099 12647200 15578616
OTC 311250 Encephalopathy encephalopatic signs; hyperammonemic encephalopathy neurologic 10885542 12647200 15174800 15243986 15578616
PC 266150 Leukoencephalopathy MRI findings; bilateral symmetric; signal intensity abnormalities; white matter abnormal; subcortical white matter abnormal; brainstem abnormal; leukodystrophy; leukodystrophic process; periventricular white matter abnormal; white matter cysts; subcortical leucodystrophy; periventricular leukomalacia (PVL) neurologic 6402999 7822739 9585002 16278852 16325442
PDHA1 308930 Encephalopathy subacute necrotizing; lesions; demyelination; necrosis; necrosis; spongiosis; capillary proliferation; Leigh like; encephalomyelopathy neurologic 1641082 7898978 8498846 9187674
PDHA1 312170 Encephalopathy encephalomyelopathy; Leigh like; encephalopathic features neurologic 9686362 10679936 15558317
PDHA1 312170 Leukoencephalopathy loss of white matter neurologic 10486093
PDHX 245349 Encephalopathy encephalomyelopathy; Leigh like; periventricular leukomalacia (PVL) neurologic 8229524 9399911 14518830 16566017
PDHX 245349 Leukoencephalopathy MRI findings; periventricular leukomalacia (PVL); white matter abnormal; periventricular white matter abnormal; subcortical white matter abnormal; parieto occipital white matter abnormal neurologic 12557299 16566017
PEO1 609286 Encephalopathy hypoxic ischemic; hipocampus; cerebellum neurologic 1634620
POLG 203700 Encephalopathy encephalomalacia; fatal encephalopathy neurologic 15689359 15929042 16545482 16621917
POLG 203700 Leukoencephalopathy subcortical areas of the frontal lobes neurologic 15689359 16177225
SCO1 220110 Encephalopathy neurologic 11013136
SCO2 604377 Encephalopathy encephalomyelopathy; Leigh like neurologic 10545952 11673586 15210538 15499950 16326995
SCO2 604377 Leukoencephalopathy white matter spongiosis; spinal cord; necrosis neurologic 10545952 11673586
SDHA 252011 Encephalopathy progressive; encephalomyelopathy; Leigh like neurologic 12112045
SDHA 252011 Leukoencephalopathy leukodystrophy; periventricular white matter abnormal neurologic 1492653 7550341 12112045 16361598
SLC25A13 603471 Encephalopathy hepatocerebral disease; progressive encephalopathy neurologic 11153906 12512993 15805705
SLC25A15 238970 Encephalopathy acute neurologic 16376511
SLC25A15 238970 Leukoencephalopathy white matter disease neurologic 1432421
SLC25A20 212138 Encephalopathy neurologic 12801121
SLC25A22 609304 Encephalopathy neurologic 15592994
SLC25A4 609283 Leukoencephalopathy MRI findings; signal intensity abnormalities; bilateral symmetric; diffuse abnormal signals; periventricular white matter; white matter abnormal neurologic 12112115
SPAST 182601 Leukoencephalopathy MRI findings; white matter abnormal; periventricular white matter abnormal; white matter lesions neurologic 11723204
STAR 201710 Encephalopathy static encephalopathy neurologic 16118340
STAR 201710 Leukoencephalopathy MRI findings; white matter abnormal; white matter lesions; supratentorial white matter lesions; demyelination neurologic 16118340
SUCLA2 609560 Encephalopathy encephalomyopathy neurologic 15877282
SUCLA2 609560 Leukoencephalopathy MRI findings; signal intensity abnormalities; Leigh like neurologic 15877282
SUOX 272300 Encephalopathy hypoxic ischemic similar; diffuse encephalopathy neurologic 9050047 10519592 12112661 12368985 15952210
SUOX 272300 Leukoencephalopathy white matter disease; multicystic neurologic 9050047 12368985 15952210
SURF1 220110 Encephalopathy encephalomalacia; encephalomyelopathy; Leigh like neurologic 9837813 10746561 11955926 14557577 16225813 16326995
SURF1 220110 Leukoencephalopathy leukodystrophy; corticospinal tract involvement; lenticular involvement; white matter abnormal neurologic 10746561 11409433 14557577
TK2 609560 Encephalopathy neurologic 12655576

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