Mitochondria Phenome Knowledgebase

Phenotypic Feature Polyneuropathies finds 37 Gene-Feature associations that are associated with 37 Genes

Gene OMIM Disease Phenotypic Feature Phenotype Annotation Clinical Category PMIDs
ABCD1 300100 Polyneuropathies peripheral neuropathy; touch sensation reduced; pinprick sensation reduced; demyelinating motor neuropathy; paraesthesiae neurologic 7849723 11739809 16672758
ACADS 201470 Polyneuropathies chronic; active; axonal sensory motor polyneuropathy; fibrillations; axonal neuropathy; collagen deposition neurologic 15534767
AGXT 259900 Polyneuropathies ischaemic neuropathy neurologic 9831280
ALDH18A1 138250 Polyneuropathies peripheral neuropathy; predominantly axonal neuropathy; axonal neuropathy; progressively decreasing motor nerve conduction; NCV abnormal neurologic 15517380
AMACR 604489 Polyneuropathies sensorimotor; axonal neuropathy; polyneuropathy; demyelinating sensory motor polyneuropathy; pin prick impaired; temperature sensitivity impaired; peripheral neuropathy neurologic 10655068 11861706
COX10 220110 Polyneuropathies peripheral neuropathy neurologic 2834526
CPOX 121300 Polyneuropathies motor neuropathy; sensory neuropathy; paresthesia; dysesthesia; lower extremities; peripheral neuropathy; neuropathy neurologic 9454777 9888388 11074238 11202054 12181641 15896662
CYP27A1 213700 Polyneuropathies peripheral neuropathy; sensory loss; motor neuropathy; sensory neuropathy neurologic 1763899 3344851 7315872 8514861 10430841 10775536 16278884
ECGF1 603041 Polyneuropathies polyneuropathy; sensorimotor neuropathy; demyelinating; burning sensation; allodynia; peripheral neuropathy; paresthesias; hypoesthesia; peripheral neuropathy; neuropathy; stocking glove sensory loss; axonal neuropathy neurologic 9683610 12177387 14757860 15607208 15742109 15781193 16120316 16178026 16198108 16294144 16498612 16530527
FECH 177000 Polyneuropathies peripheral neuropathy; polyneuropathy; axonal neuropathy neurologic 8873010 16315313
FH 606812 Polyneuropathies demyelinating neuropathy; axonal neuropathy; peripheral neurologic 1432428
FXN 229300 Polyneuropathies sensory loss; abnormal nerve conduction; axonal neuropathy; sensory neuropathy; polyneuropathy; sensory conduction abnormal; motor and sensitive polineuropathy neurologic 6231891 10607838 10767311 12112211 12480086 12745158 12878293 16344344
GCK 125851 Polyneuropathies peripheral neuropathy; polyneuropathy; rare finding neurologic 9049484
GDAP1 214400 Polyneuropathies peripheral neuropathy; distal; nerve conduction abnormal; hypertrophic; onion bulbs; hypomyelination; demyelination; sensory impairment; glove and stocking type sensory loss; polyneuropathy neurologic 11743579 11743580 12499475 12707075 15377708 15944907
GDAP1 607706 Polyneuropathies distal neuropathy; abnormal nerve conduction; onion bulbs; hypomyelination; demyelination; sensory impairment; position impairment; touch impairment neurologic 11743580 12601710 12821518 15019704
GDAP1 608340 Polyneuropathies distal neuropathy; abnormal nerve conduction; onion bulbs; hypomyelination; demyelination neurologic 12566285
HADHA 609015 Polyneuropathies sensorimotor neuropathy; peripheral neuropathy; axonopathy; secondary demyelination; polyneuropathy; foot drop neurologic 2019931 7748366 9739053 10352164 14630990 15902556
HADHA 609016 Polyneuropathies peripheral neuropathy neurologic 9003853
HADHB 609015 Polyneuropathies lower extremities; upper extremities; sensorimotor neuropathy; axonopathy; neuropathy neurologic 12754706 15617873 15902556
HD 143100 Polyneuropathies peripheral neuropathy neurologic 9506560
KIF1B 118210 Polyneuropathies peripheral neuropathy; sensory impairment; sensory loss; foot drop; abnormal nerve conduction; onion bulbs neurologic 9409358 11389829
MFN2 601152 Polyneuropathies peripheral neuropathy; moderate; severe; progressive; distal hypoesthesia; position sense impaired neurologic 16437557
MFN2 609260 Polyneuropathies distal extremities; sensory impairment; foot drop; abnormal nerve conduction; onion bulbs; leg pains; sensory loss neurologic 8406488 9409358 10732809 11148244 12601114 15064763 15136675 15549395 16043786 16087932 16714318
MPV17 256810 Polyneuropathies sensory neuropathy; motor neuropathy; progressive; stocking glove sensory loss; pain sensation absent neurologic 185990 2300261 10518083 11431741 16909392
MTRR 236270 Polyneuropathies nerve conduction abnormal neurologic 10484769 12555939
NDUFA12L 252010 Polyneuropathies demyelination; polyradiculoneuropathy; nerve conduction abnormal neurologic 16200211
OAT 258870 Polyneuropathies peripheral neuropathy; paresthesias; abnormal sensations; Neurography findings; F wave latencies abnormal; sensory evoked potentials abnormal; neurophysiologic abnormalities; sensorimotor axonal neuropathy neurologic 12221166
PDHA1 308930 Polyneuropathies axonal neuropathy neurologic 9187674
PDHA1 312170 Polyneuropathies axonal neuropathy; NCV abnormal; F wave latency prolonged; lower extremities pain; peripheral neuropathy neurologic 9187674 10679936 12163191 16552546
PEO1 271245 Polyneuropathies sensory neuropathy; axonal neuropathy; NCV decreased; loss of myelinated fibers; peripheral responses abnormal; onion bulb formation neurologic 8133312 8159181 8552218 9027505 9879682 16135556
PEO1 607459 Polyneuropathies absent sural nerve potentials; nerve conduction test neurologic 15668446
PEO1 609286 Polyneuropathies axonal neuropathy; polyneuropathy neurologic 15258213
PINK1 605909 Polyneuropathies sensorimotor neuropathy; peripheral neuropathy; polyneuropathy; paresthesias; burning; sensory deficit; lower extremities neurologic 16009891
POLG 157640 Polyneuropathies sensorimotor neuropathy; polyneuropathy; lower extremities; numbness; stocking glove numbness neurologic 12975295 15351195 15534189
POLG 258450 Polyneuropathies sensorimotor neuropathy; polyneuropathy; hypoesthesia; stocking hypoaesthesia; axonal neuropathy; peripheral neuropathy; hypomyelination; neuropathy neurologic 12825077 15351195 15477547 16401742 16621917 16638794 16715201
POLG 607459 Polyneuropathies sensory neuropathy; ataxic neuropathy; touch sensation decreased; temperature sensation decreased; myelinated fiber loss; axonal neuropathy; hypoesthesia neurologic 12565911 15824347
PPOX 176200 Polyneuropathies sensory neuropathy; peripheral neuropathy; lower extremities pain; motor neuropathy; hyperesthesia neurologic 10870850 11286631 12357337 15643299
SCO2 604377 Polyneuropathies axonal neuropathy; demyelinating; sensorimotor neuropathy; somatosensory evoked potentials abnormal; central conduction times increased; peripheral neuropathy neurologic 10545952 10805329 16765077
SLC25A15 238970 Polyneuropathies abnormal nerve conduction neurologic 1432421 10805333 16376511
SLC25A4 609283 Polyneuropathies peripheral neuropathy neurologic 12565915
SOD1 105400 Polyneuropathies skin sensations; paraesthesia; hypoesthesia; dysesthesia; NCV reduced neurologic 9455983 10809943 14517684
SPAST 182601 Polyneuropathies polyneuropathy; sensorimotor neuropathy; sensory signs; painful paresthesias; sensory loss neurologic 11723204 15197701 15667412
SPG7 607259 Polyneuropathies decreased perception; sharp stimulation; sensorimotor neuropathy; motor neuropathy; sensory neuropathy; mixed neuropathy; sensory impairment neurologic 9634528 9635427 11222789 14985266 16534102
SURF1 220110 Polyneuropathies peripheral neuropathy neurologic 15214016
TIMM8A 304700 Polyneuropathies peripheral neuropathy; mild neurologic 7643352 11803487
WFS1 222300 Polyneuropathies peripheral neuropathy; diabetic neurologic 9817917 12707373

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