Mitochondria Phenome Knowledgebase

Phenotypic Feature Leukoencephalopathy finds 39 Gene-Feature associations that are associated with 39 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
AMACR 604489 Leukoencephalopathy MRI findings; white matter abnormal; deep white matter changes neurologic 15249642
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
BCS1L 124000 Leukoencephalopathy leukodystrophy neurologic 11528392
COX10 220110 Leukoencephalopathy leukodystrophy; progressive leukodystrophy; CT findings; white matter abnormal; hemispheral white matter hypodensities neurologic 2834526 10767350
COX15 220110 Leukoencephalopathy cerebellar white matter abnormalities neurologic 15863660
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 Leukoencephalopathy leukodystrophy; MRI findings neurologic 14742428
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
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
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
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
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
NDUFA12L 252010 Leukoencephalopathy diagnostic criteria for leukoencephalopathy; vanishing white matter neurologic 16200211
NDUFS1 252010 Leukoencephalopathy leukodystrophy; diffuse leukoencephalopathy neurologic 11349233 15576045
NDUFS2 252010 Leukoencephalopathy leukodystrophy neurologic 11220739
NDUFS4 252010 Leukoencephalopathy leukodystrophy neurologic 12616398
NDUFS8 252010 Leukoencephalopathy MRI; leukodystrophy; white matter hypodensity; Leigh like neurologic 9837812 15981016
NDUFV1 252010 Leukoencephalopathy leukodystrophy; macrocystic neurologic 10080174 15576045
OAT 258870 Leukoencephalopathy MRI findings; white matter abnormal; white matter lesions; white matter degeneration; degenerative lesions neurologic 10430418 10604138
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 312170 Leukoencephalopathy loss of white matter neurologic 10486093
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
POLG 203700 Leukoencephalopathy subcortical areas of the frontal lobes neurologic 15689359 16177225
SCO2 604377 Leukoencephalopathy white matter spongiosis; spinal cord; necrosis neurologic 10545952 11673586
SDHA 252011 Leukoencephalopathy leukodystrophy; periventricular white matter abnormal neurologic 1492653 7550341 12112045 16361598
SLC25A15 238970 Leukoencephalopathy white matter disease neurologic 1432421
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 Leukoencephalopathy MRI findings; white matter abnormal; white matter lesions; supratentorial white matter lesions; demyelination neurologic 16118340
SUCLA2 609560 Leukoencephalopathy MRI findings; signal intensity abnormalities; Leigh like neurologic 15877282
SUOX 272300 Leukoencephalopathy white matter disease; multicystic neurologic 9050047 12368985 15952210
SURF1 220110 Leukoencephalopathy leukodystrophy; corticospinal tract involvement; lenticular involvement; white matter abnormal neurologic 10746561 11409433 14557577

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