Disease #05384 (neuropathy (neuropathy))

Official abbreviation neuropathy
Name neuropathy
OMIM ID -
Inheritance -
Individuals reported having this disease 88
Phenotype entries for this disease 85
Associated with 0 genes -
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Remarks -


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88 entries on 1 page. Showing entries 1 - 88.
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00151894 - PubMed: Parman 2004 - - - - - - 0 - - neuropathy - MTMR2 MTMR2 1 1 Johan den Dunnen
00151898 - PubMed: Bolino 2001 - - - - - - 0 - - neuropathy - MTMR2 MTMR2 1 1 Johan den Dunnen
00151901 - PubMed: Bolino 2001 - - - - - - 0 - - neuropathy - MTMR2 MTMR2 1 1 Johan den Dunnen
00151906 - PubMed: Marchesi 2010 - - - - - - 0 - - neuropathy - PRX PRX 1 1 Johan den Dunnen
00151910 - PubMed: Marchesi 2010 - - - - - - 0 - - neuropathy - PRX PRX 1 1 Johan den Dunnen
00151911 - PubMed: Marchesi 2010 - - - - - - 0 - - neuropathy - PRX PRX 1 1 Johan den Dunnen
00151915 - PubMed: Marchesi 2010 - - - - - - 0 - - neuropathy - PRX PRX 1 1 Johan den Dunnen
00151961 - PubMed: Shekarabi 2008 - - - - - - 0 - - neuropathy - WNK1 WNK1 1 1 Johan den Dunnen
00210539 - PubMed: Yum 2009 - - - - - - 0 - - neuropathy - NEFL NEFL 1 1 Johan den Dunnen
00210622 - PubMed: Gess 2011 - - - - - - 0 - - neuropathy - PMP22 PMP22 1 1 Johan den Dunnen
00296522 Pat2 PubMed: Forrester 2020 - - - - - - 0 - - neuropathy severe muscle weakness, slightly more marked in lower limbs and distally; ventilator-dependent; needle EMG widespread and severe neurogenic changes; nerve conduction study severe reduction compound muscle action potential, slowing motor conduction velocity, normal sensory nerve action potential GARS GARS 1 1 Johan den Dunnen
00296523 Pat1 PubMed: Forrester 2020 2-generation family, patient with affected heterozygous carrier daugther - - - - - 0 - - neuropathy distal weakness/wasting upper and lower limbs GARS GARS 1 2 Johan den Dunnen
00296524 Pat7 PubMed: Forrester 2020 patient and affected heterozygous carrier grand daughter - - - - - 0 - - neuropathy eeakness in fingers, brisk deep tendon reflexes in upper limbs/knee; wasting in feet, asymmetric foot deformity, tiptoeing in childhood GARS GARS 1 1 Johan den Dunnen
00296525 Pat8 PubMed: Forrester 2020 - - - - - - 0 - - neuropathy numbness in both hands; foot drop, wasting of tibialis anterior, weakness foot dorsiflexion; nerve conduction study prolonged distal motor latency, prolonged F waves, small motor responses common peroneal and posterior tibial nerves, mildly reduced conduction velocities common peroneal nerve, low normal or slightly small sensory nerve action potential GARS GARS 1 1 Johan den Dunnen
00296547 FamPatIII1/Pat3 PubMed: Boczonadi 2018, PubMed: Forrester 2020 3-generation family, affected grandmother, mother and son M - - - - 0 - - neuropathy typical clinical and electrophysiological signs of dHMN-V, upper limb predominant distal neuropathy since early twenties; upper limbs dorsal interosseous muscle atrophy, weak thumb/index finger; lower limbs ankle dorsi and plantar flexion weakness GARS GARS 1 3 Johan den Dunnen
00296553 Fam1PatII1 PubMed: Boczonadi 2018 mother F - - - - 0 - - neuropathy typical clinical and electrophysiological signs of dHMN-V, upper limb predominant distal neuropathy since early twenties GARS GARS 1 1 Johan den Dunnen
00296554 Fam/Fam2PatII1 PubMed: McMillan 2014, PubMed: Boczonadi 2018 2-generation family, affected female and heterozygous carrier parents F - Canada - - 0 - - neuropathy see paper; ..., 6y-developed non-compaction cardiomyopathy, exercise induced myalgia; white matter changes, increased lactate GARS GARS 2 3 Johan den Dunnen
00296555 Fam/Fam2father PubMed: McMillan 2014, PubMed: Boczonadi 2018 father M - Canada - - 0 - - neuropathy bilateral talipes, mild axonal neuropathy GARS GARS 1 1 Johan den Dunnen
00296557 GARS817G>A/Pat4 PubMed: Antoniadi 2015. PubMed: Forrester 2020 2-generation family, 1 affected, unaffected heterozygous carrier parents - - United Kingdom (Great Britain) - - 0 - - neuropathy no upper limb weakness; lower limb pes cavus, tight Achilles tendon; chronic denervation in legs GARS GARS, PMP22 2 1 Johan den Dunnen
00296558 Pat5 PubMed: Forrester 2020 5-generation family, 10 affected (2F, 8M) M - - - - 0 - - neuropathy upper limb weakness in muscles around thumb, lower limbs pes cavus, hammer toes, ankle jerks depressed GARS GARS 1 10 Johan den Dunnen
00296559 Pat6 PubMed: Forrester 2020 variant segregates in extensive family - - - - - 0 - - neuropathy upper limb weakness/wasting in small muscles of hands; lower limb pain and weakness in feet; nerve conduction study upper limb normal compound muscle action potential,mild/moderate slowing motor conduction velocity, normal sensory nerve action potential; nerve conduction study upper limb potentials absent motor conduction velocity, lower limit of normal sensory nerve action potential; needle EMG length-dependent denervation changes GARS GARS 1 1 Johan den Dunnen
00300026 Pat-SCN9A-a PubMed: Antoniadi 2015 analysis 448 inherited peripheral neuropathy cases - - United Kingdom (Great Britain) - - 0 - - neuropathy - SCN9A SCN9A 1 1 Johan den Dunnen
00300032 - PubMed: Antoniadi 2015 analysis 448 inherited peripheral neuropathy cases - - United Kingdom (Great Britain) - - 0 - - neuropathy - AARS AARS 1 1 Johan den Dunnen
00300044 - PubMed: Antoniadi 2015 analysis 448 inherited peripheral neuropathy cases - - United Kingdom (Great Britain) - - 0 - - neuropathy - DYNC1H1 DYNC1H1 1 1 Johan den Dunnen
00300048 Pat-GAN-a PubMed: Antoniadi 2015 analysis 448 inherited peripheral neuropathy cases - - United Kingdom (Great Britain) - - 0 - - neuropathy - GAN GAN 1 1 Johan den Dunnen
00300057 - PubMed: Antoniadi 2015 analysis 448 inherited peripheral neuropathy cases - - United Kingdom (Great Britain) - - 0 - - neuropathy - GJB1 GJB1 1 1 Johan den Dunnen
00300058 - PubMed: Antoniadi 2015 analysis 448 inherited peripheral neuropathy cases - - United Kingdom (Great Britain) - - 0 - - neuropathy - GJB1 GJB1 1 1 Johan den Dunnen
00300067 - PubMed: Antoniadi 2015 analysis 448 inherited peripheral neuropathy cases - - United Kingdom (Great Britain) - - 0 - - neuropathy - IGHMBP2 IGHMBP2 1 1 Johan den Dunnen
00300068 - PubMed: Antoniadi 2015 analysis 448 inherited peripheral neuropathy cases - - United Kingdom (Great Britain) - - 0 - - neuropathy - IGHMBP2 IGHMBP2 1 1 Johan den Dunnen
00300080 - PubMed: Antoniadi 2015 analysis 448 inherited peripheral neuropathy cases - - United Kingdom (Great Britain) - - 0 - - neuropathy - MPZ MPZ 1 1 Johan den Dunnen
00300095 Pat-SEPT9-a PubMed: Antoniadi 2015 analysis 448 inherited peripheral neuropathy cases - - United Kingdom (Great Britain) - - 0 - - neuropathy - SEPT9 SEPT9 1 1 Johan den Dunnen
00300108 Pat-SEPT9-b PubMed: Antoniadi 2015 analysis 448 inherited peripheral neuropathy cases - - United Kingdom (Great Britain) - - 0 - - neuropathy - SEPT9 SEPT9 1 1 Johan den Dunnen
00300110 Pat-GAN-b PubMed: Antoniadi 2015 analysis 448 inherited peripheral neuropathy cases - - United Kingdom (Great Britain) - - 0 - - neuropathy - GAN GAN 1 1 Johan den Dunnen
00300114 Pat15 PubMed: Antoniadi 2015 analysis 448 inherited peripheral neuropathy cases - - United Kingdom (Great Britain) - - 0 - - neuropathy - PMP22, SH3TC2 PMP22, SH3TC2 2 1 Johan den Dunnen
00300126 Pat-SCN9A-b PubMed: Antoniadi 2015 analysis 448 inherited peripheral neuropathy cases - - United Kingdom (Great Britain) - - 0 - - neuropathy - SCN9A SCN9A 1 1 Johan den Dunnen
00300132 Pat-AARS-b PubMed: Antoniadi 2015 analysis 448 inherited peripheral neuropathy cases - - United Kingdom (Great Britain) - - 0 - - neuropathy - AARS AARS 1 1 Johan den Dunnen
00300142 Pat-AARS-c PubMed: Antoniadi 2015 analysis 448 inherited peripheral neuropathy cases - - United Kingdom (Great Britain) - - 0 - - neuropathy - AARS AARS 1 1 Johan den Dunnen
00300152 Pat-AARS-d PubMed: Antoniadi 2015 analysis 448 inherited peripheral neuropathy cases - - United Kingdom (Great Britain) - - 0 - - neuropathy - AARS AARS 1 1 Johan den Dunnen
00300155 Pat-AARS-e PubMed: Antoniadi 2015 analysis 448 inherited peripheral neuropathy cases - - United Kingdom (Great Britain) - - 0 - - neuropathy - AARS AARS 1 1 Johan den Dunnen
00300159 Pat-MED25-g PubMed: Antoniadi 2015 analysis 448 inherited peripheral neuropathy cases - - United Kingdom (Great Britain) - - 0 - - neuropathy - MED25 MED25 1 1 Johan den Dunnen
00300437 - - - M ? India - 10y 0 - IVIg neuropathy, XLA;AGMX-1 - BTK BTK 1 1 Sneha Sawant Desai
00301208 Fam1Case1 PubMed: Cortese 2020 Family, 2 affected F - United States white - 0 - - neuropathy mild severity; axonal motor NCS motor NCS SORD SORD 1 2 Johan den Dunnen
00301209 Fam1Case2 PubMed: Cortese 2020 - F - United States white - 0 - - neuropathy mild severity; axonal motor NCS SORD SORD 1 1 Johan den Dunnen
00301210 Fam2Case3 PubMed: Cortese 2020 no Family history M - Greece white - 0 - - neuropathy mild severity; axonal motor NCS; sensory NCS upper limbs reducedl, sensory NCS lower limbs absent; Rapid onset after flu-like syndrome, upper limb tremor SORD SORD 2 1 Johan den Dunnen
00301211 Fam3Case4 PubMed: Cortese 2020 no Family history M - France white - 0 - - neuropathy moderate severity; intermediate motor NCS; sensory NCS upper limbs reducedl, sensory NCS lower limbs reduced; upper limb tremor, mild hearing loss SORD SORD 2 1 Johan den Dunnen
00301212 Fam4Case5 PubMed: Cortese 2020 no Family history M - Netherlands white - 0 - - neuropathy mild severity; axonal motor NCS; sensory NCS upper limbs reducedl, sensory NCS lower limbs normal; muscle ache, raised CK up to 1200 IU, scapular winging SORD SORD 1 1 Johan den Dunnen
00301213 Fam5Case6 PubMed: Cortese 2020 no Family history M - United States white - 0 - - neuropathy mild severity; axonal motor NCS; sensory NCS upper limbs normal, sensory NCS lower limbs normal; upper limb tremor SORD SORD 1 1 Johan den Dunnen
00301214 Fam6Case7 PubMed: Cortese 2020 no Family history F - United States white - 0 - - neuropathy mild severity; axonal motor NCS; sensory NCS upper limbs normal, sensory NCS lower limbs normal SORD SORD 1 1 Johan den Dunnen
00301215 Fam7Case8 PubMed: Cortese 2020 Family history M - Iraq Middle Eastern - 0 - - neuropathy mild severity; axonal motor NCS; sensory NCS upper limbs normal, sensory NCS lower limbs reduced SORD SORD 1 1 Johan den Dunnen
00301216 Fam8Case9 PubMed: Cortese 2020 no Family history F - United States white - 0 - - neuropathy mild severity; intermediate motor NCS; sensory NCS upper limbs normal, sensory NCS lower limbs normal; rapid worsening SORD SORD 1 1 Johan den Dunnen
00301217 Fam9Case10 PubMed: Cortese 2020 no Family history M - United States white - 0 - - neuropathy mild severity; intermediate motor NCS; sensory NCS upper limbs reducedl, sensory NCS lower limbs normal; upper limb tremor SORD SORD 1 1 Johan den Dunnen
00301218 Fam10Case11 PubMed: Cortese 2020 no Family history F - United States white;African American - 0 - - neuropathy mild severity; intermediate motor NCS; sensory NCS upper limbs normal, sensory NCS lower limbs reduced SORD SORD 1 1 Johan den Dunnen
00301219 Fam11Case12 PubMed: Cortese 2020 no Family history M - United Kingdom (Great Britain) white - 0 - - neuropathy mild severity; axonal motor NCS; sensory NCS upper limbs reducedl, sensory NCS lower limbs normal; stress fractures SORD SORD 1 1 Johan den Dunnen
00301220 Fam12Case13 PubMed: Cortese 2020 no Family history M - United Kingdom (Great Britain) white - 0 - - neuropathy moderate severity; axonal motor NCS; sensory NCS upper limbs reducedl, sensory NCS lower limbs normal; Left peroneal nerve mononeuropathy SORD SORD 1 1 Johan den Dunnen
00301221 Fam13Case14 PubMed: Cortese 2020 no Family history M - Germany white - 0 - - neuropathy mild severity; axonal motor NCS; sensory NCS lower limbs normal; Complex ataxo-spastic syndrome entailing mental retardation (since age 3), coarse facial features, bulky stature SORD SORD 1 1 Johan den Dunnen
00301222 Fam14Case15II1 PubMed: Cortese 2020 Family, 2 affected M - Austria white - 0 - - neuropathy moderate severity; intermediate motor NCS; sensory NCS upper limbs reducedl; upper limb distal weakness and tremor SORD SORD 2 2 Johan den Dunnen
00301223 Fam14Case16II2 PubMed: Cortese 2020 - F - Austria white - 0 - - neuropathy mild severity; intermediate motor NCS; sensory NCS upper limbs reducedl SORD SORD 2 1 Johan den Dunnen
00301224 Fam15Case17 PubMed: Cortese 2020 no Family history F - Egypt Middle Eastern, Bedouin - 0 - - neuropathy mild severity; axonal motor NCS; sensory NCS upper limbs reducedl, sensory NCS lower limbs reduced; upper limb tremor SORD SORD 1 1 Johan den Dunnen
00301225 Fam16Case18 PubMed: Cortese 2020 no Family history M - United Kingdom (Great Britain) white - 0 - - neuropathy mild severity; axonal motor NCS; sensory NCS upper limbs absent, sensory NCS lower limbs normal SORD SORD 1 1 Johan den Dunnen
00301226 Fam17Case19 PubMed: Cortese 2020 no Family history M - Singapore East Asian - 0 - - neuropathy moderate severity; axonal motor NCS; sensory NCS upper limbs reducedl, sensory NCS lower limbs normal SORD SORD 1 1 Johan den Dunnen
00301227 Fam18Case20II2 PubMed: Cortese 2020 Family, 2 affected F - Egypt Middle Eastern - 0 - - neuropathy moderate severity; axonal motor NCS; sensory NCS upper limbs normal, sensory NCS lower limbs absent; burning pain in hands and feet SORD SORD 1 2 Johan den Dunnen
00301228 Fam18Case21II3 PubMed: Cortese 2020 - M - Egypt Middle Eastern - 0 - - neuropathy moderate severity; intermediate motor NCS; sensory NCS upper limbs normal, sensory NCS lower limbs absent SORD SORD 1 1 Johan den Dunnen
00301229 Fam19Case22I1 PubMed: Cortese 2020 Family, 3 affected M - Egypt Middle Eastern - 0 - - neuropathy severe severity SORD SORD 1 3 Johan den Dunnen
00301230 Fam19Case23II2 PubMed: Cortese 2020 - M - Egypt Middle Eastern - 0 - - neuropathy moderate severity SORD SORD 1 1 Johan den Dunnen
00301231 Fam19Case24II3 PubMed: Cortese 2020 - M - Egypt Middle Eastern - 0 - - neuropathy mild severity SORD SORD 1 1 Johan den Dunnen
00301232 Fam20Case25II3 PubMed: Cortese 2020 Family history M - Kuwait Middle Eastern - 0 - - neuropathy mild severity; intermediate motor NCS; sensory NCS upper limbs normal, sensory NCS lower limbs reduced SORD SORD 1 1 Johan den Dunnen
00301233 Fam21Case26 PubMed: Cortese 2020 no Family history F - Italy white - 0 - - neuropathy moderate severity; axonal motor NCS; sensory NCS upper limbs normal, sensory NCS lower limbs reduced SORD SORD 1 1 Johan den Dunnen
00301234 Fam22Case27 PubMed: Cortese 2020 Family history M - Italy white - 0 - - neuropathy mild severity; axonal motor NCS; sensory NCS upper limbs normal, sensory NCS lower limbs normal SORD SORD 1 1 Johan den Dunnen
00301235 Fam23Case28II1 PubMed: Cortese 2020 Family, 2 affected M - Italy white - 0 - - neuropathy mild severity; axonal motor NCS; sensory NCS upper limbs normal, sensory NCS lower limbs normal; epilepsy, vascular encephalopathy, upper limb tremor, scoliosis. Has a normal sural nerve biopsy SORD SORD 1 2 Johan den Dunnen
00301236 Fam23Case29II2 PubMed: Cortese 2020 - F - Italy white - 0 - - neuropathy mild severity; axonal motor NCS; sensory NCS upper limbs reducedl, sensory NCS lower limbs reduced SORD SORD 1 1 Johan den Dunnen
00301237 Fam24Case30 PubMed: Cortese 2020 no Family history F - Italy white - 0 - - neuropathy moderate severity; axonal motor NCS; sensory NCS upper limbs normal, sensory NCS lower limbs normal; brisk reflexes SORD SORD 1 1 Johan den Dunnen
00301238 Fam25Case31 PubMed: Cortese 2020 no Family history M - Italy white - 0 - - neuropathy mild severity; axonal motor NCS; sensory NCS upper limbs normal, sensory NCS lower limbs normal SORD SORD 1 1 Johan den Dunnen
00301239 Fam26Case32 PubMed: Cortese 2020 no Family history M - Italy white - 0 - - neuropathy moderate severity; axonal motor NCS; sensory NCS upper limbs reducedl, sensory NCS lower limbs normal; split hand SORD SORD 1 1 Johan den Dunnen
00301240 Fam27Case33 PubMed: Cortese 2020 no Family history M - Italy white - 0 - - neuropathy moderate severity; axonal motor NCS; sensory NCS upper limbs normal, sensory NCS lower limbs normal; scoliosis, raised CK SORD SORD 1 1 Johan den Dunnen
00301241 Fam28Case34 PubMed: Cortese 2020 Family, 2 affected F - Italy white - 0 - - neuropathy mild severity; axonal motor NCS; sensory NCS upper limbs normal, sensory NCS lower limbs normal; brisk reflexes SORD SORD 1 2 Johan den Dunnen
00301242 Fam28Case35 PubMed: Cortese 2020 - F - Italy white - 0 - - neuropathy mild severity; axonal motor NCS; sensory NCS upper limbs normal, sensory NCS lower limbs normal; brisk reflexes SORD SORD 1 1 Johan den Dunnen
00301243 Fam29Case36 PubMed: Cortese 2020 no Family history M - Italy white - 0 - - neuropathy moderate severity; axonal motor NCS; sensory NCS upper limbs absent, sensory NCS lower limbs absent; scoliosis SORD SORD 2 1 Johan den Dunnen
00301244 Fam30Case37 PubMed: Cortese 2020 no Family history M - Italy white - 0 - - neuropathy mild severity; intermediate motor NCS; sensory NCS upper limbs reducedl, sensory NCS lower limbs absent SORD SORD 2 1 Johan den Dunnen
00301245 Fam31Case38 PubMed: Cortese 2020 no Family history M - Italy white - 0 - - neuropathy moderate severity; intermediate motor NCS; sensory NCS upper limbs reducedl, sensory NCS lower limbs absent; scoliosis SORD SORD 1 1 Johan den Dunnen
00301246 Fam32Case39 PubMed: Cortese 2020 no Family history M - Italy white - 0 - - neuropathy mild severity; axonal motor NCS; sensory NCS upper limbs normal, sensory NCS lower limbs normal; raised CK SORD SORD 2 1 Johan den Dunnen
00301247 Fam33Case40 PubMed: Cortese 2020 no Family history M - Italy white - 0 - - neuropathy moderate severity; axonal motor NCS; sensory NCS upper limbs normal, sensory NCS lower limbs reduced; mild hearing loss SORD SORD 2 1 Johan den Dunnen
00301248 Fam34Case41 PubMed: Cortese 2020 no Family history M - United States white - 0 - - neuropathy mild severity; intermediate motor NCS; sensory NCS upper limbs normal, sensory NCS lower limbs normal SORD SORD 1 1 Johan den Dunnen
00301249 Fam35Case42 PubMed: Cortese 2020 no Family history M - United States Native American (Alaska);white - 0 - - neuropathy mild severity; axonal motor NCS; sensory NCS upper limbs reducedl, sensory NCS lower limbs normal SORD SORD 1 1 Johan den Dunnen
00301250 Fam36Case43 PubMed: Cortese 2020 sporadic M - China Chinese, Han - 0 - - neuropathy mild severity; axonal motor NCS; sensory NCS upper limbs normal, sensory NCS lower limbs normal SORD SORD 1 1 Johan den Dunnen
00301251 Fam37Case44 PubMed: Cortese 2020 sporadic M - China Chinese, Han - 0 - - neuropathy mild severity; axonal motor NCS; sensory NCS upper limbs normal, sensory NCS lower limbs reduced SORD SORD 1 1 Johan den Dunnen
00301252 Fam38Case45 PubMed: Cortese 2020 sporadic M - China Chinese, Han - 0 - - neuropathy mild severity; axonal motor NCS; sensory NCS upper limbs normal, sensory NCS lower limbs reduced SORD SORD 1 1 Johan den Dunnen
00302579 TF108_1 - - F yes Jordan - - 0 - - neuropathy developmental delay - TAF1C 1 1 Tawfiq Froukh
00305348 155552 - - F ? Germany - - 0 - - neuropathy Distal hereditary motor neuropathy; Motor polyneuropathy DSP DSP 1 1 Andreas Laner
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