Mitochondria Phenome Knowledgebase

Phenotypic Feature Neuronal-loss-and-lesions finds 69 Gene-Feature associations that are associated with 69 Genes

Gene OMIM Disease Phenotypic Feature Phenotype Annotation Clinical Category PMIDs
ABCD1 300100 Neuronal-loss-and-lesions MRI findings; signal intensity abnormalities; white matter abnormal; cerebral peduncles abnormal; cerebellar hemispheres abnormal; internal capsule abnormal; demyelination; periventricular white matter abnormal neurologic 9702690 10369742 10426149 10980309 12210797 14586615 16672758
ACADSB 610006 Neuronal-loss-and-lesions MRI findings; signal intensity abnormalities; white matter abnormal; cerebral hemispheres abnormal; parietal lobes abnormal; occipital lobes abnormal; lentiform nuclei abnormal; signs of hypoxia; delayed myelination of corpus callosum neurologic 10832746 16317551
ALDH18A1 138250 Neuronal-loss-and-lesions MRI findings; signal intensity abnormalities; white matter abnormal; white matter atrophy neurologic 15517380
ALDH5A1 271980 Neuronal-loss-and-lesions MRI findings; signal intensity abnormalities; white matter abnormal; subcortical abnormalities; demyelination; globus pallidus abnormal; bilateral symmetric; dentate nuclei abnormal neurologic 8803774 9093300 12743223 14512218
AMACR 604489 Neuronal-loss-and-lesions MRI findings; signal intensity abnormalities; pons abnormal; basal ganglia abnormal; thalamus abnormal; cerebral peduncles abnormal; white matter abnormal; deep white matter changes neurologic 15249642
ATP7B 277900 Neuronal-loss-and-lesions MRI findings; signal intensity abnormalities; putamen abnormal; nucleus caudatus abnormal; bilateral symmetric; basal ganglia abnormal; midbrain abnormal; white matter abnormal; globus pallidus abnormal; claustrum abnormal; thalamus abnormal; subcortical regions abnormal; mesencephalon abnormal; pons abnormal; vermis abnormal; dentatorubrothalamic tract abnormal; pontocerebellar tract abnormal neurologic 8585490 9160075 9706533 10864623 11086396 15557537 15909172
AUH 250950 Neuronal-loss-and-lesions MRI findings; signal intensity abnormalities; basal ganglia abnormal; basal ganglia atrophy; globus pallidus abnormal; white matter abnormal neurologic 9762598
BCKDHA 248600 Neuronal-loss-and-lesions MRI findings; signal intensity abnormalities; bilateral symmetric; globus pallidus abnormal; pons abnormal; midbrain abnormal; myelin maturation delayed neurologic 12042535 16601891
BCS1L 124000 Neuronal-loss-and-lesions MRI findings; bilateral symmetric; brainstem abnormal; basal ganglia abnormal; lesions; myelination abnormal; necrosis; spongiosis; capillary proliferation; Leigh like neurologic 12910490
BCS1L 603358 Neuronal-loss-and-lesions Pathology findings; dentate abnormal; olivary nuclei abnormal neurologic 7577396
CLN3 204200 Neuronal-loss-and-lesions MRI findings; signal intensity abnormalities; cortical atrophy; central atrophy; cerebellar atrophy; striatum abnormal; white matter abnormal; periventricular white matter abnormal; myelination impaired neurologic 7553855 9392580 10720276 12363103 15032383 16087292
COX10 220110 Neuronal-loss-and-lesions MRI findings; bilateral symmetric; brainstem abnormal; basal ganglia abnormal; putamen abnormal; globus pallidus abnormal; thalamus abnormal; nucleus ruber abnormal; Leigh like neurologic 12928484 15455402
COX15 220110 Neuronal-loss-and-lesions MRI findings; bilateral symmetric; basal ganglia abnormal; brainstem abnormal; midbrain abnormal; cerebral peduncles abnormal; periaqueductal region abnormal; Leigh like; cerebellar white matter abnormal; putamen abnormal; nucleus caudatus abnormal neurologic 15235026 15863660
CPT2 600649 Neuronal-loss-and-lesions MRI findings; signal intensity abnormalities; anterior horn abnormal; calcifications neurologic 11477613
CYB5R3 250800 Neuronal-loss-and-lesions MRI findings; signal intensity abnormalities; bilateral symmetric; cortex abnormal; cerebellum abnormal; myelinization abnormal; basal ganglia abnormal neurologic 10874300 11295830
CYP27A1 213700 Neuronal-loss-and-lesions MRI findings; signal intensity abnormalities; bilateral symmetric; supratentorial white matter abnormal; white matter abnormal; periventricular white matter abnormal; nucleus dentatus abnormal; parenchymal lesions; globus pallidus abnormal; cerebral peduncles abnormal; axonal loss; basal ganglia abnormal neurologic 5676919 10430841 10775536 14572142 16157755 16278884
DGUOK 251880 Neuronal-loss-and-lesions MRI findings; signal intensity abnormalities; white matter abnormal; diffuse neurologic 15887277
DLAT 245348 Neuronal-loss-and-lesions MRI findings; bilateral symmetric; globus pallidus abnormal; basal ganglia abnormal neurologic 16049940
DLD 248600 Neuronal-loss-and-lesions MRI findings; signal intensity abnormalities; putamen abnormal; thalamus abnormal; pons abnormal; midbrain abnormal; basal ganglia abnormal; brain stem abnormal; Leigh like neurologic 3769994 8652022 11687750 12925875
DLST 203740 Neuronal-loss-and-lesions MRI findings; bilateral symmetric; signal intensity abnormalities; white matter abnormal; periventricular white matter abnormal neurologic 8295396
DMPK 160900 Neuronal-loss-and-lesions MRI findings; brain calcifications; subcortical abnormalities; white matter abnormal; anterior temporal lobe abnormal; ventricular abnormalities neurologic 10323316 10385049 12639730
ECGF1 603041 Neuronal-loss-and-lesions MRI findings; signal intensity abnormalities; white matter abnormal; corpus callosum abnormal; brainstem abnormal; blood neurologic 12177387 14757860 15742109 16198108 16294144 16530527
ETHE1 602473 Neuronal-loss-and-lesions MRI findings; basal ganglia abnormal; putamen abnormal; nucleus caudatus abnormal neurologic 1683940 9475600 12382164 14732903
FH 606812 Neuronal-loss-and-lesions MRI findings; signal intensity abnormalities; ventricle abnormalities; hypomyelination; dilatation of pericerebral spaces; cystic regions; cerebral ventricles dilated; periventricular cysts neurologic 8200987 9635293 15221078 16151915
FXN 229300 Neuronal-loss-and-lesions MRI findings; signal intensity abnormalities; neuronal loss; large primary neurons; dorsal root ganglia abnormal; spinocerebellar degeneration; posterior columns degeneration; spinocerebellar tract degeneration; corticospinal motor tract degeneration; spinal cord degeneration; sensory fiber atrophy; gracile nuclei abnormal; cuneate nuclei abnormal; brainstem abnormal neurologic 11809170 12480086 12745158 12878293 16344344
GCDH 231670 Neuronal-loss-and-lesions MRI findings; signal intensity abnormalities; nucleus caudatus abnormal; lenticular nuclei abnormal; basal ganglia abnormal; striatum abnormal; sylvian fissures widening; white matter abnormal; putamen abnormal; globus pallidus abnormal; substantia nigra abnormal; tegmentum abnormal; superior colliculus abnormal neurologic 1137568 7795610 10407775 10699052 10960496 11058907 12473778 15985591
GFM1 609060 Neuronal-loss-and-lesions MRI findings; white matter abnormal; basal ganglia abnormal neurologic 15537906
HADHA 609016 Neuronal-loss-and-lesions MRI findings; signal intensity abnormalities; bilateral symmetric; periventricular lesions; cortical lesions; parietooccipital lesions; white matter abnormal; gyri abnormal; global insult signs neurologic 9003853 11855930
HD 143100 Neuronal-loss-and-lesions MRI findings; signal intensity abnormalities; globus pallidus abnormal; basal ganglia abnormal; cortex abnormal; nucleus caudatus abnormal; midbrain abnormal; pons abnormal; cerebellum abnormal; striatum abnormal; widening of sulci; thalamus abnormal; mesial temporal lobe structures abnormal; white matter abnormal; periventricular leukomalacia (PVL); supratentorial atrophy; neuronal cell loss neurologic 1532132 1825793 2945510 4280434 6217782 7845404 8474490 9443350 9771791 10749290 11719256 12075860 12820545 15021927 15042332 15338298 15526960
HMGCL 246450 Neuronal-loss-and-lesions MRI findings; signal intensity abnormalities; white matter abnormal; frontal horns abnormal; subcortical white matter abnormal; supratentorial white matter abnormal; scattered lesions; ventricles enlarged; periventricular white matter abnormal neurologic 1886403 9463337 11461194
HSD17B10 300438 Neuronal-loss-and-lesions MRI findings; frontotemporal atrophy; white matter abnormal; signal intensity abnormalities; bilateral symmetric; periventricular white matter abnormal; posterior horns abnormal; optic radiations abnormal; lentiform nuclei abnormal; putamen abnormal; basal ganglia abnormal; Leigh like neurologic 11102558 14729408 15059617 16148061
LRPPRC 220111 Neuronal-loss-and-lesions MRI findings; signal intensity abnormalities; Leigh like neurologic 8392290 8392291 16143014
LRRK2 607060 Neuronal-loss-and-lesions Pathology findings; substantia nigra abnormal; substantia nigra pars compacta abnormal; pigmentary loss neurologic 7898705 11891824 15541308 15541309
MFN2 601152 Neuronal-loss-and-lesions MRI findings; signal intensity abnormalities; bilateral symmetric; cerebral peduncles abnormal neurologic 16437557
MLYCD 248360 Neuronal-loss-and-lesions MRI findings; white matter abnormal; white matter loss neurologic 12955715 16275149
MPV17 251880 Neuronal-loss-and-lesions MRI findings; bilateral symmetric; signal intensity abnormalities; white matter abnormal; cerebellar white matter abnormal; substantia nigra abnormal; substantia nigra lesion neurologic 16582910
MPV17 256810 Neuronal-loss-and-lesions MRI findings; white matter lesions neurologic 2300261 11431741
MTRR 236270 Neuronal-loss-and-lesions MRI findings; signal intensity abnormalities; thalamus abnormal; nucleus pallidus abnormal; basal ganglia abnormal; small lesions; white matter abnormal neurologic 12971424 15714522
NDUFA12L 252010 Neuronal-loss-and-lesions MRI findings; signal intensity abnormalities; bilateral symmetric; mamillothalamic tracts abnormal; substantia nigra abnormal; medial lemniscus abnormal; medial longitudinal fasciculus abnormal; spinothalamic tracts abnormal; corpus medullare abnormal; globus pallidus abnormal; striatum abnormal; thalamus abnormal; hypothalamus abnormal neurologic 16200211
NDUFS1 252010 Neuronal-loss-and-lesions MRI findings; bilateral symmetric; signal intensity abnormalities; brain stem abnormal; basal ganglia abnormal; corona radiata abnormal; substantia nigra abnormal; midbrain abnormal neurologic 11349233 15576045 15824269
NDUFS2 252010 Neuronal-loss-and-lesions MRI findings; bilateral symmetric; signal intensity abnormalities; basal ganglia abnormal neurologic 11220739
NDUFS3 252010 Neuronal-loss-and-lesions MRI findings; bilateral symmetric; signal intensity abnormalities; thalamus abnormal; putamen abnormal; white matter abnormal; brain stem abnormal neurologic 14729820
NDUFS4 252010 Neuronal-loss-and-lesions MRI findings; bilateral symmetric; signal intensity abnormalities; basal ganglia abnormal; Leigh like neurologic 9463323 10944442 14765537
NDUFS6 252010 Neuronal-loss-and-lesions Pathology findings; prominent; congestion; basal ganglia abnormal; thalamus abnormal; periventricular tissue of brain stem abnormal; chromatolysis of neurons; microvacuolation; signs of hypoxia neurologic 15372108
NDUFS7 252010 Neuronal-loss-and-lesions MRI findings; bilateral symmetric; signal intensity abnormalities; putamen abnormal; nucleus caudatus abnormal; nucleus ruber abnormal; medulla oblongata abnormal neurologic 1770777 10360771
NDUFS8 252010 Neuronal-loss-and-lesions MRI findings; bilateral symmetric; signal intensity abnormalities; putamen abnormal; mesencephalon abnormal; degeneration; Pathology findings; rostral abnormal; brain stem abnormal; diencephalon abnormal; central nuclei abnormal; spinal cord abnormal; semioval center abnormal; variable neuronal damage; relative sparing of neurons in comparison to surrounding tissue; Leigh like neurologic 9837812 15159508
NDUFV1 252010 Neuronal-loss-and-lesions MRI findings; cavitations in the frontal and temporal subcortical white matter; white matter abnormal; bilateral symmetric; signal intensity abnormalities; brain stem abnormal neurologic 11349233 15576045
OAT 258870 Neuronal-loss-and-lesions MRI findings; bilateral symmetric; signal intensity abnormalities; white matter abnormal; white matter lesions; white matter degeneration; degenerative lesions neurologic 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
PANK2 234200 Neuronal-loss-and-lesions MRI findings; bilateral symmetric; signal intensity abnormalities; eye of the tiger; globus pallidus abnormal; hyperintensity within the hypointense medial globus pallidus neurologic 7503394 12532925 12697433 12811783 14639680 15465096 15747360 15812126 15911822 15944911 16149094 16240131 16437574 16450344
PANK2 607236 Neuronal-loss-and-lesions MRI findings; bilateral symmetric; signal intensity abnormalities; eye of the tiger; globus pallidus abnormal; hyperintensity within the hypointense medial globus pallidus neurologic 1734303 7898702 12058097 12510040 14638969
PARK7 606324 Neuronal-loss-and-lesions depletion of pigmented neurons; substantia nigra; locus coeruleus neurologic 12953260
PC 266150 Neuronal-loss-and-lesions MRI findings; ischemia like brain lesions; basal ganglia abnormal; cerebral cysts; white matter abnormal; Cranial ultrasound findings; cranial cysts; periventricular pseudocysts; myelination abnormal; hypomyelination; grey matter abnormal; mamillary bodies abnormal; midbrain abnormal neurologic 6402999 7503391 7822739 10323732 15781190 16278852 16325442
PCCB 606054 Neuronal-loss-and-lesions MRI findings; arachnoidal cysts; bilateral symmetric; signal intensity abnormalities; basal ganglia abnormal; basal ganglia enlargement; putamina abnormal; caudate abnormal; pallidum abnormal; subarachnoidal space enlarged; thalamus abnormal; subthalamic nucleus abnormal neurologic 9461363 10488817 10780784 16324621
PDHA1 308930 Neuronal-loss-and-lesions MRI findings; bilateral symmetric; signal intensity abnormalities; basal ganglia abnormal; brainstem abnormal; cerebellum abnormal; thalamus abnormal; spinal cord abnormal; substantia nigra abnormal neurologic 1641082 8498846 8982956 9187674
PDHA1 312170 Neuronal-loss-and-lesions MRI findings; bilateral symmetric; globus pallidus abnormal; demyelination; pons abnormal; basal ganglia abnormal; cerebellar dentate nuclei abnormal; ventricle enlargement; nucleus caudatus abnormal; thalamus abnormal; Leigh like neurologic 9686362 12163191 14635113 15384102 15473177 15558317 16256390 16552546
PDHX 245349 Neuronal-loss-and-lesions MRI findings; increased signal intensity; basal ganglia; parieto occipital white matter; Leigh like; periventricular leukomalacia (PVL); white matter abnormal; periventricular white matter abnormal; ventricular enlargement; nucleus caudatus abnormal; putamen abnormal; thalamus abnormal; perirolandic cortex abnormal; subcortical white matter abnormal; ventral ventricles dilated; crura cerebri abnormal; subarachnoid spaces widened neurologic 8584393 9399911 11935326 12557299 14518830 16566017
PEO1 271245 Neuronal-loss-and-lesions Pathology findings; posterior columns degeneration; myelin loss and necrosis; spinocerebellar tract degeneration; neuronal loss in dorsal nucleus; lateral geniculate nuclei abnormal; medial thalami abnormal neurologic 9879682
PEO1 607459 Neuronal-loss-and-lesions MRI findings; cortical atrophy neurologic 15668446
PINK1 605909 Neuronal-loss-and-lesions dopaminergic neurons abnormal; substantia nigra abnormal; locus ceruleus abnormal neurologic 16401616
POLG 157640 Neuronal-loss-and-lesions substantia nigra abnormal neurologic 15351195
POLG 203700 Neuronal-loss-and-lesions bilateral symmetric; basal ganglia abnormal; thalamus abnormal; cerebellar dentate nuclei abnormal; left occipital cortical abnormal; subcortical abnormal neurologic 15689359 15929042
POLG 258450 Neuronal-loss-and-lesions MRI findings; bilateral symmetric; signal intensity abnormalities; hypothalamus abnormal; cerebellar white matter abnormal; thalamus abnormal; medulla oblongata abnormal; infarct like changes; inferior olives abnormal; basal ganglia abnormal; cerebellar nuclei abnormal; parietal cortex abnormal neurologic 15477547 16638794
POLG 607459 Neuronal-loss-and-lesions MRI findings; bilateral symmetric; signal intensity abnormalities; cortical abnormalities; occipital poles abnormal; cerebellar hemispheres abnormal; thalamus abnormal; thalamic lesions neurologic 12565911 15824347
SCO2 604377 Neuronal-loss-and-lesions thalamus abnormal; neuronal dropout; ventral horn abnormal neurologic 10545952
SDHA 252011 Neuronal-loss-and-lesions MRI findings; bilateral symmetric; signal intensity abnormalities; basal ganglia abnormal; brainstem abnormal; thalamus abnormal; globus pallidus abnormal; substantia nigra abnormal; nucleus ruber abnormal; nucleus caudatus abnormal neurologic 1492653 7550341 10746566 10976639 12112045 16361598
SDHD 168000 Neuronal-loss-and-lesions MRI findings; cerebellar lesions; cystic lesions; cerebellar lesions neurologic 11526495
SLC19A2 249270 Neuronal-loss-and-lesions MRI findings; cerebral lesion; parietal cortical lesion neurologic 10978358
SLC25A15 238970 Neuronal-loss-and-lesions MRI findings; signal intensity abnormalities; widening of ventricular and periencephalic cerebrospinal fluid spaces; white matter abnormal neurologic 9329423
SOD1 105400 Neuronal-loss-and-lesions Pathology findings; motor neurons abnormal; neurofilaments; motor cortex abnormal; brain stem abnormal; cervical anterior nerve roots thinning; cranial nerves abnormal; severe loss of Betz cells neurologic 7647793 10732812 10751275 15235802 16423367
SPAST 182601 Neuronal-loss-and-lesions MRI findings; signal intensity abnormalities; bilateral symmetric; white matter abnormal; periventricular white matter abnormal; white matter lesions neurologic 11723204
SPG7 607259 Neuronal-loss-and-lesions MRI findings; vascular findings; right front cortex abnormal; signal intensity abnormalities; periventricular abnormalities neurologic 9634528 14985266
STAR 201710 Neuronal-loss-and-lesions MRI findings; signal intensity abnormalities; bilateral symmetric; white matter abnormal; white matter lesions; supratentorial white matter lesions; demyelination neurologic 16118340
SUCLA2 609560 Neuronal-loss-and-lesions MRI findings; signal intensity abnormalities; bilateral symmetric; lacunar infarcts; basal ganglia abnormal; putamen abnormal; Leigh like neurologic 15877282
SUOX 272300 Neuronal-loss-and-lesions MRI findings; signal intensity abnormalities; mid brain abnormal; thalamus abnormal; hemispheres abnormal; white matter abnormal; macrocystic changes; basal ganglia abnormal; periventricular areas abnormal; macrocystic degeneration of the white matter; loss of gray white matter differentiation; nucleus caudatus abnormal; putamen abnormal neurologic 10519592 12001203 15952210 16140720
SURF1 220110 Neuronal-loss-and-lesions MRI findings; bilateral symmetric; signal intensity abnormalities; vascular proliferation; demyelination; cystic caviation; basal ganglia abnormal; brainstem abnormal; thalamus abnormal; spinal cord abnormal; cerebellum abnormal; putamen abnormal; white matter abnormal; cerebral peduncles abnormal; nucleus dentatus abnormal; pons abnormal neurologic 9837813 9843204 10647889 11955926 14557577 16222681 16225813
TIMM8A 304700 Neuronal-loss-and-lesions MRI findings; multifocal patterns; striatum abnormal; cortex abnormal neurologic 11803487 12805099

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