Human Phenotype Ontology 
Grandparent Node:
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Peripheral neuropathy (HP:0009830)help
Parent Node:
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Somatic sensory dysfunction (HP:0003474)help
..Starting node
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Distal sensory impairment (HP:0002936)help
Term ID: 2936
Name: Distal sensory impairment
Synonym: Decreased distal sensation; Decreased sensation in extremities; Distal sensation loss; Distal sensory impairment in lower limbs; Distal sensory impairment of the lower extremities; Distal sensory loss; Distal sensory loss, upper and lower limbs; Loss of distal sensation
Definition: An abnormal reduction in sensation in the distal portions of the extremities.
Comments:
Reference: HP:0002936
Genes and Diseases:
 
       Child Nodes:
........expandImpaired distal proprioception (HP:0006858) help
........expandImpaired distal tactile sensation (HP:0006937) help

 Sister Nodes: 
..expandAbnormality of pain sensation (HP:0010832) help
..expandDissociated sensory loss (HP:0010835) help
..expandImpaired proprioception (HP:0010831) help
..expandImpaired tactile sensation (HP:0010830) help
..expandImpaired temperature sensation (HP:0010829) help
..expandImpaired vibratory sensation (HP:0002495) help
InputHPO IDHPO termDistanceGeneGene id entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0002936HP:0002936Distal sensory impairment0AARS1 CL E G H1620OMIM:613287Charcot-Marie-Tooth disease, axonal, type 2N.
HP:0002936HP:0002936Distal sensory impairment0AASS CL E G H1015717366ORPHA:3124SaccharopinuriaHP:0040283 - Occasional15
HP:0002936HP:0002936Distal sensory impairment0ABCD1 CL E G H21561ORPHA:139399AdrenomyeloneuropathyHP:0040281 - Very frequent135
HP:0002936HP:0002936Distal sensory impairment0ABHD12 CL E G H2609015868OMIM:612674Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract.50
HP:0002936HP:0002936Distal sensory impairment0ADA2 CL E G H518161839OMIM:182410Sneddon syndrome22
HP:0002936HP:0002936Distal sensory impairment0AIFM1 CL E G H91318768OMIM:310490Cowchock syndrome.60
HP:0002936HP:0002936Distal sensory impairment0AIFM1 CL E G H91318768OMIM:300614Deafness, X-linked 5.60
HP:0002936HP:0002936Distal sensory impairment0ALDH4A1 CL E G H8659406ORPHA:79101Hyperprolinemia type 2HP:0040283 - Occasional74
HP:0002936HP:0002936Distal sensory impairment0APTX CL E G H5484015984OMIM:208920Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia.61
HP:0002936HP:0002936Distal sensory impairment0ATL1 CL E G H5106211231ORPHA:36386Hereditary sensory and autonomic neuropathy type 1HP:0040281 - Very frequent71
HP:0002936HP:0002936Distal sensory impairment0ATL1 CL E G H5106211231OMIM:613708Neuropathy, hereditary sensory, type ID.71
HP:0002936HP:0002936Distal sensory impairment0ATL3 CL E G H2592324526ORPHA:36386Hereditary sensory and autonomic neuropathy type 1HP:0040281 - Very frequent5
HP:0002936HP:0002936Distal sensory impairment0ATP13A2 CL E G H2340030213OMIM:606693Kufor-Rakeb syndromeHP:0040283 - Occasional100
HP:0002936HP:0002936Distal sensory impairment0ATP13A2 CL E G H2340030213OMIM:617225SPASTIC PARAPLEGIA 78, AUTOSOMAL RECESSIVE; SPG78100
HP:0002936HP:0002936Distal sensory impairment0ATP7A CL E G H538869OMIM:300489Spinal muscular atrophy, distal, X-linked 3HP:0040283 - Occasional192
HP:0002936HP:0002936Distal sensory impairment0ATXN1 CL E G H631010548OMIM:164400Spinocerebellar ataxia 119
HP:0002936HP:0002936Distal sensory impairment0ATXN10 CL E G H2581410549OMIM:603516Spinocerebellar ataxia 109
HP:0002936HP:0002936Distal sensory impairment0BAG3 CL E G H9531939OMIM:612954Myopathy, myofibrillar, 6.204
HP:0002936HP:0002936Distal sensory impairment0BSCL2 CL E G H2658015832ORPHA:100998Autosomal dominant spastic paraplegia type 17HP:0040283 - Occasional105
HP:0002936HP:0002936Distal sensory impairment0BSCL2 CL E G H2658015832OMIM:270685Spastic paraplegia 17105
HP:0002936HP:0002936Distal sensory impairment0C19ORF12 CL E G H8363625443OMIM:615043Spastic paraplegia 43, autosomal recessive.114
HP:0002936HP:0002936Distal sensory impairment0CADM3 CL E G H5786317601OMIM:619519CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2FF; CMT2FF1
HP:0002936HP:0002936Distal sensory impairment0CAPN1 CL E G H8231476OMIM:616907SPASTIC PARAPLEGIA 76, AUTOSOMAL RECESSIVE; SPG764
HP:0002936HP:0002936Distal sensory impairment0CAV1 CL E G H8571527OMIM:606721Lipodystrophy, familial partial, type 7.11
HP:0002936HP:0002936Distal sensory impairment0CCT5 CL E G H229481618OMIM:256840Neuropathy, hereditary sensory, with spastic paraplegia, autosomal recessive.56
HP:0002936HP:0002936Distal sensory impairment0CHCHD10 CL E G H40091615559OMIM:615048Spinal muscular atrophy, Jokela typeHP:0040283 - Occasional11
HP:0002936HP:0002936Distal sensory impairment0COA7 CL E G H6526025716OMIM:618387Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3.
HP:0002936HP:0002936Distal sensory impairment0COX6A1 CL E G H13372277OMIM:616039Charcot-Marie-Tooth disease, recessive intermediate D.4
HP:0002936HP:0002936Distal sensory impairment0CYP7B1 CL E G H94202652OMIM:270800Spastic paraplegia 5A, autosomal recessive57
HP:0002936HP:0002936Distal sensory impairment0DARS2 CL E G H5515725538ORPHA:137898Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome60
HP:0002936HP:0002936Distal sensory impairment0DCAF8 CL E G H5071724891OMIM:610100Giant axonal neuropathy, autosomal dominant2
HP:0002936HP:0002936Distal sensory impairment0DDHD1 CL E G H8082119714OMIM:609340Spastic paraplegia 28, autosomal recessive.35
HP:0002936HP:0002936Distal sensory impairment0DHH CL E G H508462865OMIM:60708046,XY GONADAL DYSGENESIS, PARTIAL, WITH MINIFASCICULAR NEUROPATHY21
HP:0002936HP:0002936Distal sensory impairment0DNAJB2 CL E G H33005228OMIM:614881Spinal muscular atrophy, distal, autosomal recessive, 5.30
HP:0002936HP:0002936Distal sensory impairment0DNM2 CL E G H17852974OMIM:606482Charcot-Marie-Tooth disease, dominant intermediate B.167
HP:0002936HP:0002936Distal sensory impairment0DYNC1H1 CL E G H17782961OMIM:614228Charcot-marie-tooth disease, axonal, type 2O.427
HP:0002936HP:0002936Distal sensory impairment0EGR2 CL E G H19593239OMIM:145900Hypertrophic neuropathy of dejerine-sottas.58
HP:0002936HP:0002936Distal sensory impairment0FBLN5 CL E G H105163602OMIM:619764CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1H; CMT1H63
HP:0002936HP:0002936Distal sensory impairment0FBLN5 CL E G H105163602OMIM:608895Macular degeneration, age-related, 363
HP:0002936HP:0002936Distal sensory impairment0FGD4 CL E G H12151219125OMIM:609311Charcot-marie-tooth disease, type 4H158
HP:0002936HP:0002936Distal sensory impairment0FIG4 CL E G H989616873OMIM:611228Charcot-Marie-Tooth disease, type 4J.111
HP:0002936HP:0002936Distal sensory impairment0GAN CL E G H81394137ORPHA:643Giant axonal neuropathyHP:0040282 - Frequent121
HP:0002936HP:0002936Distal sensory impairment0GAN CL E G H81394137OMIM:256850Giant axonal neuropathy 1, autosomal recessive.121
HP:0002936HP:0002936Distal sensory impairment0GARS1 CL E G H26174162OMIM:601472Charcot-Marie-Tooth disease, axonal, type 2D.
HP:0002936HP:0002936Distal sensory impairment0GBE1 CL E G H26324180ORPHA:206583Adult polyglucosan body diseaseHP:0040282 - Frequent86
HP:0002936HP:0002936Distal sensory impairment0GBE1 CL E G H26324180OMIM:263570Polyglucosan body neuropathy, adult form.86
HP:0002936HP:0002936Distal sensory impairment0GBF1 CL E G H87294181OMIM:606483Charcot-Marie-Tooth disease, dominant intermediate A.
HP:0002936HP:0002936Distal sensory impairment0GDAP1 CL E G H5433215968ORPHA:99944Autosomal dominant Charcot-Marie-Tooth disease type 2KHP:0040282 - Frequent108
HP:0002936HP:0002936Distal sensory impairment0GDAP1 CL E G H5433215968ORPHA:101097Autosomal recessive Charcot-Marie-Tooth disease with hoarseness108
HP:0002936HP:0002936Distal sensory impairment0GDAP1 CL E G H5433215968ORPHA:99948Charcot-Marie-Tooth disease type 4A108
HP:0002936HP:0002936Distal sensory impairment0GDAP1 CL E G H5433215968OMIM:607831Charcot-Marie-Tooth disease, axonal, type 2K.108
HP:0002936HP:0002936Distal sensory impairment0GDAP1 CL E G H5433215968OMIM:607706Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomalrecessive.108
HP:0002936HP:0002936Distal sensory impairment0GDAP1 CL E G H5433215968OMIM:608340Charcot-Marie-Tooth disease, recessive intermediate A.108
HP:0002936HP:0002936Distal sensory impairment0GDAP1 CL E G H5433215968OMIM:214400Charcot-Marie-Tooth disease, type 4A.108
HP:0002936HP:0002936Distal sensory impairment0GJB1 CL E G H27054283OMIM:302800Charcot-Marie-Tooth neuropathy, X-linked dominant, 1107
HP:0002936HP:0002936Distal sensory impairment0GJC2 CL E G H5716517494OMIM:613206Spastic paraplegia 44, autosomal recessiveHP:0040282 - Frequent37
HP:0002936HP:0002936Distal sensory impairment0GNB4 CL E G H5934520731OMIM:615185Charcot-Marie-Tooth disease, dominant intermediate F.12
HP:0002936HP:0002936Distal sensory impairment0HARS1 CL E G H30354816ORPHA:488333Autosomal dominant Charcot-Marie-Tooth disease type 2W
HP:0002936HP:0002936Distal sensory impairment0HARS1 CL E G H30354816OMIM:616625Charcot-Marie-Tooth disease, axonal, type 2W
HP:0002936HP:0002936Distal sensory impairment0HINT1 CL E G H30944912OMIM:137200Neuromyotonia and axonal neuropathy, autosomal recessive.12
HP:0002936HP:0002936Distal sensory impairment0HK1 CL E G H30984922ORPHA:99953Charcot-Marie-Tooth disease type 4GHP:0040281 - Very frequent11
HP:0002936HP:0002936Distal sensory impairment0HSPB1 CL E G H33155246OMIM:606595Charcot-Marie-Tooth disease, axonal, type 2F.47
HP:0002936HP:0002936Distal sensory impairment0HSPB8 CL E G H2635330171OMIM:608673Charcot-Marie-Tooth disease, axonal, type 2L.38
HP:0002936HP:0002936Distal sensory impairment0IARS2 CL E G H5569929685OMIM:616007Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia.25
HP:0002936HP:0002936Distal sensory impairment0IBA57 CL E G H20020527302OMIM:616451Spastic paraplegia 74, autosomal recessive.16
HP:0002936HP:0002936Distal sensory impairment0IGHMBP2 CL E G H35085542OMIM:616155Charcot-Marie-Tooth disease, axonal, type 2S.209
HP:0002936HP:0002936Distal sensory impairment0INF2 CL E G H6442323791OMIM:614455Charcot-Marie-Tooth disease, dominant intermediate E.135
HP:0002936HP:0002936Distal sensory impairment0JPH1 CL E G H5670414201OMIM:607831Charcot-Marie-Tooth disease, axonal, type 2K.1
HP:0002936HP:0002936Distal sensory impairment0KARS1 CL E G H37356215OMIM:613641Charcot-marie-tooth disease, recessive intermediate B.
HP:0002936HP:0002936Distal sensory impairment0KIF1A CL E G H547888ORPHA:101010Autosomal spastic paraplegia type 30HP:0040282 - Frequent276
HP:0002936HP:0002936Distal sensory impairment0KIF1A CL E G H547888OMIM:614213Neuropathy, hereditary sensory, type IIC276
HP:0002936HP:0002936Distal sensory impairment0KIF1B CL E G H2309516636OMIM:118210Charcot-Marie-Tooth disease, axonal, type 2A1.202
HP:0002936HP:0002936Distal sensory impairment0KIF5A CL E G H37986323ORPHA:100991Autosomal dominant spastic paraplegia type 10HP:0040282 - Frequent93
HP:0002936HP:0002936Distal sensory impairment0KIF5A CL E G H37986323OMIM:604187Spastic paraplegia 10, autosomal dominant.93
HP:0002936HP:0002936Distal sensory impairment0KLHL9 CL E G H5595818732ORPHA:399081KLHL9-related early-onset distal myopathyHP:0040281 - Very frequent3
HP:0002936HP:0002936Distal sensory impairment0LITAF CL E G H951616841OMIM:601098Charcot-Marie-Tooth disease, demyelinating, type 1C.74
HP:0002936HP:0002936Distal sensory impairment0LMNA CL E G H40006636ORPHA:98856Charcot-Marie-Tooth disease type 2B1645
HP:0002936HP:0002936Distal sensory impairment0LMNA CL E G H40006636OMIM:605588Charcot-Marie-Tooth disease, axonal, type 2B1.645
HP:0002936HP:0002936Distal sensory impairment0LMNB1 CL E G H40016637ORPHA:99027Adult-onset autosomal dominant leukodystrophyHP:0040282 - Frequent44
HP:0002936HP:0002936Distal sensory impairment0LRSAM1 CL E G H9067825135OMIM:614436Charcot-Marie-Tooth disease, axonal, type 2P.102
HP:0002936HP:0002936Distal sensory impairment0MARS1 CL E G H41416898OMIM:616280Charcot-Marie-Tooth disease, axonal, type 2U.
HP:0002936HP:0002936Distal sensory impairment0MATR3 CL E G H97826912OMIM:606070Amyotrophic lateral sclerosis 21HP:0040283 - Occasional80
HP:0002936HP:0002936Distal sensory impairment0MATR3 CL E G H97826912ORPHA:600Vocal cord and pharyngeal distal myopathyHP:0040284 - Very rare80
HP:0002936HP:0002936Distal sensory impairment0MCM3AP CL E G H88886946OMIM:618124Peripheral neuropathy, autosomal recessive, with or without impaired intellectual developmentHP:0040284 - Very rare3
HP:0002936HP:0002936Distal sensory impairment0MED25 CL E G H8185728845OMIM:605589Charcot-Marie-Tooth disease, axonal, type 2B2.43
HP:0002936HP:0002936Distal sensory impairment0MFN2 CL E G H992716877ORPHA:99947Autosomal dominant Charcot-Marie-Tooth disease type 2A2HP:0040282 - Frequent203
HP:0002936HP:0002936Distal sensory impairment0MFN2 CL E G H992716877OMIM:617087Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2A2B.203
HP:0002936HP:0002936Distal sensory impairment0MFN2 CL E G H992716877OMIM:609260Charcot-marie-tooth disease, axonal, type 2A2A.203
HP:0002936HP:0002936Distal sensory impairment0MFN2 CL E G H992716877OMIM:601152Hereditary motor and sensory neuropathy VI.203
HP:0002936HP:0002936Distal sensory impairment0MME CL E G H43117154OMIM:617017Charcot-Marie-Tooth disease, axonal, type 2T.18
HP:0002936HP:0002936Distal sensory impairment0MME CL E G H43117154OMIM:617018SPINOCEREBELLAR ATAXIA 43; SCA4318
HP:0002936HP:0002936Distal sensory impairment0MME CL E G H43117154ORPHA:497764Spinocerebellar ataxia type 43HP:0040282 - Frequent18
HP:0002936HP:0002936Distal sensory impairment0MORC2 CL E G H2288023573OMIM:616688Charcot-Marie-Tooth disease, axonal, type 2Z.8
HP:0002936HP:0002936Distal sensory impairment0MPV17 CL E G H43587224OMIM:618400Charcot-Marie-Tooth disease, axonal, type 2EE56
HP:0002936HP:0002936Distal sensory impairment0MPV17 CL E G H43587224OMIM:256810Navajo neurohepatopathy56
HP:0002936HP:0002936Distal sensory impairment0MPZ CL E G H43597225OMIM:607677Charcot-Marie-Tooth disease, axonal, type 2I.134
HP:0002936HP:0002936Distal sensory impairment0MPZ CL E G H43597225OMIM:118200Charcot-Marie-Tooth disease, demyelinating, type 1B.134
HP:0002936HP:0002936Distal sensory impairment0MPZ CL E G H43597225OMIM:607791Charcot-Marie-Tooth disease, dominant intermediate D.134
HP:0002936HP:0002936Distal sensory impairment0MPZ CL E G H43597225OMIM:607736Charcot-Marie-Tooth disease, type 2J.134
HP:0002936HP:0002936Distal sensory impairment0MPZ CL E G H43597225OMIM:145900Hypertrophic neuropathy of dejerine-sottas.134
HP:0002936HP:0002936Distal sensory impairment0MPZ CL E G H43597225OMIM:180800Roussy-Levy hereditary areflexic dystasia.134
HP:0002936HP:0002936Distal sensory impairment0MSTO1 CL E G H5515429678OMIM:617675Myopathy, mitochondrial, and ataxia.
HP:0002936HP:0002936Distal sensory impairment0MTMR2 CL E G H88987450OMIM:601382Charcot-Marie-Tooth disease, type 4B1.88
HP:0002936HP:0002936Distal sensory impairment0MTRFR CL E G H9157426784ORPHA:320375Autosomal recessive spastic paraplegia type 55HP:0040282 - Frequent
HP:0002936HP:0002936Distal sensory impairment0MTRFR CL E G H9157426784ORPHA:254930Combined oxidative phosphorylation defect type 7HP:0040282 - Frequent
HP:0002936HP:0002936Distal sensory impairment0MTRFR CL E G H9157426784OMIM:613559Combined oxidative phosphorylation deficiency 7.
HP:0002936HP:0002936Distal sensory impairment0MTRFR CL E G H9157426784OMIM:615035Spastic paraplegia 55, autosomal recessive.
HP:0002936HP:0002936Distal sensory impairment0MTTP CL E G H45477467ORPHA:14Abetalipoproteinemia81
HP:0002936HP:0002936Distal sensory impairment0MYH14 CL E G H7978423212OMIM:614369Peripheral neuropathy, myopathy, hoarseness, and hearing loss227
HP:0002936HP:0002936Distal sensory impairment0NAGA CL E G H46687631OMIM:609242Kanzaki disease.47
HP:0002936HP:0002936Distal sensory impairment0NAGLU CL E G H46697632OMIM:616491Charcot-Marie-Tooth disease, axonal, type 2V.72
HP:0002936HP:0002936Distal sensory impairment0NDRG1 CL E G H103977679ORPHA:99950Charcot-Marie-Tooth disease type 4DHP:0040283 - Occasional82
HP:0002936HP:0002936Distal sensory impairment0NDRG1 CL E G H103977679OMIM:601455Charcot-Marie-Tooth disease, type 4D.82
HP:0002936HP:0002936Distal sensory impairment0NEFH CL E G H47447737OMIM:616924Charcot-Marie-Tooth disease, axonal, type 2CC.24
HP:0002936HP:0002936Distal sensory impairment0NEFL CL E G H47477739OMIM:607684Charcot-Marie-Tooth disease, axonal, type 2E.118
HP:0002936HP:0002936Distal sensory impairment0NEFL CL E G H47477739OMIM:607734Charcot-Marie-Tooth disease, demyelinating, type 1F.118
HP:0002936HP:0002936Distal sensory impairment0NEFL CL E G H47477739OMIM:617882Charcot-Marie-Tooth disease, dominant intermediate G.118
HP:0002936HP:0002936Distal sensory impairment0NTRK1 CL E G H49148031ORPHA:642Hereditary sensory and autonomic neuropathy type 4HP:0040283 - Occasional97
HP:0002936HP:0002936Distal sensory impairment0PDK3 CL E G H51658811ORPHA:352675X-linked Charcot-Marie-Tooth disease type 6HP:0040281 - Very frequent4
HP:0002936HP:0002936Distal sensory impairment0PEX10 CL E G H51928851OMIM:614871Peroxisome biogenesis disorder 6BHP:0040283 - Occasional75
HP:0002936HP:0002936Distal sensory impairment0PIK3R5 CL E G H2353330035OMIM:615217Ataxia-Oculomotor apraxia 3.11
HP:0002936HP:0002936Distal sensory impairment0PLEKHG5 CL E G H5744929105OMIM:615376Charcot-Marie-Tooth disease, recessive intermediate C.186
HP:0002936HP:0002936Distal sensory impairment0PMP2 CL E G H53759117OMIM:618279Charcot-Marie-Tooth disease, demyelinating, type 1G1
HP:0002936HP:0002936Distal sensory impairment0PMP22 CL E G H53769118OMIM:118300Charcot-Marie-Tooth disease and deafness.79
HP:0002936HP:0002936Distal sensory impairment0PMP22 CL E G H53769118ORPHA:101081Charcot-Marie-Tooth disease type 1AHP:0040282 - Frequent79
HP:0002936HP:0002936Distal sensory impairment0PMP22 CL E G H53769118ORPHA:90658Charcot-Marie-Tooth disease type 1EHP:0040281 - Very frequent79
HP:0002936HP:0002936Distal sensory impairment0PMP22 CL E G H53769118OMIM:118220Charcot-Marie-Tooth disease, demyelinating, type 1A.79
HP:0002936HP:0002936Distal sensory impairment0PMP22 CL E G H53769118OMIM:145900Hypertrophic neuropathy of dejerine-sottas.79
HP:0002936HP:0002936Distal sensory impairment0PMP22 CL E G H53769118OMIM:180800Roussy-Levy hereditary areflexic dystasia.79
HP:0002936HP:0002936Distal sensory impairment0PNKP CL E G H112849154OMIM:605589Charcot-Marie-Tooth disease, axonal, type 2B2.244
HP:0002936HP:0002936Distal sensory impairment0PNPT1 CL E G H8717823166ORPHA:101111Spinocerebellar ataxia type 25HP:0040282 - Frequent60
HP:0002936HP:0002936Distal sensory impairment0POLG CL E G H54289179ORPHA:254886Autosomal recessive progressive external ophthalmoplegiaHP:0040283 - Occasional464
HP:0002936HP:0002936Distal sensory impairment0POLG CL E G H54289179OMIM:603041Mitochondrial DNA depletion syndrome 1 (mngie type).464
HP:0002936HP:0002936Distal sensory impairment0POLG CL E G H54289179OMIM:157640Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1464
HP:0002936HP:0002936Distal sensory impairment0POLG CL E G H54289179OMIM:258450Progressive external ophthalmoplegia with mitochondrial DNA deletions,autosomal recessive464
HP:0002936HP:0002936Distal sensory impairment0POLG CL E G H54289179OMIM:607459Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis464
HP:0002936HP:0002936Distal sensory impairment0POLG CL E G H54289179ORPHA:70595Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome464
HP:0002936HP:0002936Distal sensory impairment0POLR3A CL E G H1112830074ORPHA:447896Tremor-ataxia-central hypomyelination syndrome138
HP:0002936HP:0002936Distal sensory impairment0POLR3B CL E G H5570330348OMIM:619742CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1I; CMT1I67
HP:0002936HP:0002936Distal sensory impairment0PRPS1 CL E G H56319462OMIM:311070Charcot-Marie-Tooth disease, X-linked recessive, 549
HP:0002936HP:0002936Distal sensory impairment0PRX CL E G H5771613797OMIM:614895Charcot-Marie-Tooth disease, demyelinating, type 4F.170
HP:0002936HP:0002936Distal sensory impairment0PRX CL E G H5771613797OMIM:145900Hypertrophic neuropathy of dejerine-sottas.170
HP:0002936HP:0002936Distal sensory impairment0RAB7A CL E G H78799788OMIM:600882Charcot-Marie-Tooth disease, axonal, type 2B50
HP:0002936HP:0002936Distal sensory impairment0RAI1 CL E G H107439834ORPHA:477817PMP22-RAI1 contiguous gene duplication syndromeHP:0040282 - Frequent150
HP:0002936HP:0002936Distal sensory impairment0RASA1 CL E G H59219871ORPHA:90307Parkes Weber syndromeHP:0040283 - Occasional88
HP:0002936HP:0002936Distal sensory impairment0REEP1 CL E G H6505525786ORPHA:101011Autosomal dominant spastic paraplegia type 31HP:0040282 - Frequent87
HP:0002936HP:0002936Distal sensory impairment0REEP1 CL E G H6505525786OMIM:610250Spastic paraplegia 31, autosomal dominant.87
HP:0002936HP:0002936Distal sensory impairment0SACS CL E G H2627810519OMIM:270550Spastic ataxia, Charlevoix-Saguenay type.309
HP:0002936HP:0002936Distal sensory impairment0SAMD9L CL E G H2192851349OMIM:159550Ataxia-Pancytopenia syndromeHP:0040283 - Occasional4
HP:0002936HP:0002936Distal sensory impairment0SBF1 CL E G H630510542OMIM:615284Charcot-Marie-Tooth disease, type 4B3.16
HP:0002936HP:0002936Distal sensory impairment0SBF2 CL E G H818462135ORPHA:99956Charcot-Marie-Tooth disease type 4B2180
HP:0002936HP:0002936Distal sensory impairment0SBF2 CL E G H818462135OMIM:604563Charcot-Marie-Tooth disease, type 4B2.180
HP:0002936HP:0002936Distal sensory impairment0SCYL1 CL E G H5741014372OMIM:616719Spinocerebellar ataxia, autosomal recessive 21.5
HP:0002936HP:0002936Distal sensory impairment0SERPINI1 CL E G H52748943OMIM:604218Encephalopathy, familial, with neuroserpin inclusion bodies.28
HP:0002936HP:0002936Distal sensory impairment0SETX CL E G H23064445OMIM:606002Spinocerebellar ataxia, autosomal recessive 1162
HP:0002936HP:0002936Distal sensory impairment0SH3TC2 CL E G H7962829427OMIM:601596Charcot-Marie-Tooth disease, type 4C.493
HP:0002936HP:0002936Distal sensory impairment0SLC25A19 CL E G H6038614409OMIM:613710Thiamine metabolism dysfunction syndrome 4 (bilateral striatal degenerationand progressive polyneuropathy type)36
HP:0002936HP:0002936Distal sensory impairment0SLC25A46 CL E G H9113725198OMIM:616505Neuropathy, hereditary motor and sensory, type VIB.14
HP:0002936HP:0002936Distal sensory impairment0SOX10 CL E G H666311190OMIM:609136Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease.61
HP:0002936HP:0002936Distal sensory impairment0SPG11 CL E G H8020811226OMIM:616668Charcot-Marie-Tooth disease, axonal, type 2X.287
HP:0002936HP:0002936Distal sensory impairment0SPTLC1 CL E G H1055811277ORPHA:36386Hereditary sensory and autonomic neuropathy type 1HP:0040281 - Very frequent54
HP:0002936HP:0002936Distal sensory impairment0SPTLC1 CL E G H1055811277OMIM:162400Neuropathy, hereditary sensory and autonomic, type IA.54
HP:0002936HP:0002936Distal sensory impairment0SPTLC2 CL E G H951711278ORPHA:36386Hereditary sensory and autonomic neuropathy type 1HP:0040281 - Very frequent149
HP:0002936HP:0002936Distal sensory impairment0SPTLC2 CL E G H951711278OMIM:613640Neuropathy, hereditary sensory and autonomic, type IC.149
HP:0002936HP:0002936Distal sensory impairment0SYT2 CL E G H12783311510OMIM:616040Myasthenic syndrome, congenital, 7, presynaptic4
HP:0002936HP:0002936Distal sensory impairment0TDP1 CL E G H5577518884ORPHA:94124Spinocerebellar ataxia with axonal neuropathy type 152
HP:0002936HP:0002936Distal sensory impairment0TDP1 CL E G H5577518884OMIM:607250Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1.52
HP:0002936HP:0002936Distal sensory impairment0TFG CL E G H1034211758ORPHA:90117Hereditary motor and sensory neuropathy, Okinawa typeHP:0040282 - Frequent18
HP:0002936HP:0002936Distal sensory impairment0TFG CL E G H1034211758OMIM:604484Neuropathy, hereditary motor and sensory, Okinawa type.18
HP:0002936HP:0002936Distal sensory impairment0TK2 CL E G H708411831ORPHA:254886Autosomal recessive progressive external ophthalmoplegiaHP:0040283 - Occasional103
HP:0002936HP:0002936Distal sensory impairment0TRPV4 CL E G H5934118083OMIM:606071Hereditary motor and sensory neuropathy, type IIC.214
HP:0002936HP:0002936Distal sensory impairment0TRPV4 CL E G H5934118083OMIM:181405Scapuloperoneal spinal muscular atrophyHP:0040283 - Occasional214
HP:0002936HP:0002936Distal sensory impairment0TWNK CL E G H566521160OMIM:607459Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis113
HP:0002936HP:0002936Distal sensory impairment0TWNK CL E G H566521160ORPHA:70595Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome113
HP:0002936HP:0002936Distal sensory impairment0TYMP CL E G H18903148OMIM:603041Mitochondrial DNA depletion syndrome 1 (mngie type).138
HP:0002936HP:0002936Distal sensory impairment0VCP CL E G H741512666ORPHA:435387Autosomal dominant Charcot-Marie-Tooth disease type 2YHP:0040282 - Frequent63
HP:0002936HP:0002936Distal sensory impairment0VCP CL E G H741512666OMIM:616687Charcot-Marie-Tooth disease, axonal, type 2Y.63
HP:0002936HP:0002936Distal sensory impairment0XRCC1 CL E G H751512828OMIM:617633Spinocerebellar ataxia, autosomal recessive 26.4
HP:0002936HP:0002936Distal sensory impairment0YARS1 CL E G H856512840OMIM:608323Charcot-Marie-Tooth disease, dominant intermediate C.
HP:0002936HP:0006937Impaired distal tactile sensation1ADA2 CL E G H518161839OMIM:182410Sneddon syndrome22
HP:0002936HP:0006937Impaired distal tactile sensation1ATL1 CL E G H5106211231ORPHA:36386Hereditary sensory and autonomic neuropathy type 1HP:0040282 - Frequent71
HP:0002936HP:0006937Impaired distal tactile sensation1ATL3 CL E G H2592324526ORPHA:36386Hereditary sensory and autonomic neuropathy type 1HP:0040282 - Frequent5
HP:0002936HP:0006937Impaired distal tactile sensation1ATXN1 CL E G H631010548OMIM:164400Spinocerebellar ataxia 119
HP:0002936HP:0006858Impaired distal proprioception1BSCL2 CL E G H2658015832OMIM:270685Spastic paraplegia 17105
HP:0002936HP:0006937Impaired distal tactile sensation1BSCL2 CL E G H2658015832OMIM:270685Spastic paraplegia 17105
HP:0002936HP:0006858Impaired distal proprioception1CYP7B1 CL E G H94202652OMIM:270800Spastic paraplegia 5A, autosomal recessive.57
HP:0002936HP:0006858Impaired distal proprioception1DARS2 CL E G H5515725538ORPHA:137898Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndromeHP:0040283 - Occasional60
HP:0002936HP:0006937Impaired distal tactile sensation1DCAF8 CL E G H5071724891OMIM:610100Giant axonal neuropathy, autosomal dominant.2
HP:0002936HP:0006937Impaired distal tactile sensation1DHH CL E G H508462865OMIM:60708046,XY GONADAL DYSGENESIS, PARTIAL, WITH MINIFASCICULAR NEUROPATHY21
HP:0002936HP:0006858Impaired distal proprioception1GDAP1 CL E G H5433215968ORPHA:101097Autosomal recessive Charcot-Marie-Tooth disease with hoarseness108
HP:0002936HP:0006858Impaired distal proprioception1GDAP1 CL E G H5433215968ORPHA:99948Charcot-Marie-Tooth disease type 4A108
HP:0002936HP:0006937Impaired distal tactile sensation1GDAP1 CL E G H5433215968ORPHA:99948Charcot-Marie-Tooth disease type 4A108
HP:0002936HP:0006937Impaired distal tactile sensation1GDAP1 CL E G H5433215968OMIM:607706Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomalrecessive108
HP:0002936HP:0006937Impaired distal tactile sensation1HARS1 CL E G H30354816ORPHA:488333Autosomal dominant Charcot-Marie-Tooth disease type 2WHP:0040283 - Occasional
HP:0002936HP:0006858Impaired distal proprioception1KIF1A CL E G H547888OMIM:614213Neuropathy, hereditary sensory, type IIC276
HP:0002936HP:0006937Impaired distal tactile sensation1KLHL9 CL E G H5595818732ORPHA:399081KLHL9-related early-onset distal myopathyHP:0040282 - Frequent3
HP:0002936HP:0006937Impaired distal tactile sensation1MORC2 CL E G H2288023573OMIM:616688Charcot-Marie-Tooth disease, axonal, type 2Z8
HP:0002936HP:0006858Impaired distal proprioception1MORC2 CL E G H2288023573OMIM:616688Charcot-Marie-Tooth disease, axonal, type 2Z8
HP:0002936HP:0006937Impaired distal tactile sensation1MPV17 CL E G H43587224OMIM:618400Charcot-Marie-Tooth disease, axonal, type 2EE56
HP:0002936HP:0006937Impaired distal tactile sensation1MTRFR CL E G H9157426784OMIM:615035Spastic paraplegia 55, autosomal recessive
HP:0002936HP:0006858Impaired distal proprioception1MTTP CL E G H45477467ORPHA:14AbetalipoproteinemiaHP:0040283 - Occasional81
HP:0002936HP:0006937Impaired distal tactile sensation1PNPT1 CL E G H8717823166ORPHA:101111Spinocerebellar ataxia type 25HP:0040282 - Frequent60
HP:0002936HP:0006858Impaired distal proprioception1POLG CL E G H54289179OMIM:157640Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1.464
HP:0002936HP:0006858Impaired distal proprioception1POLG CL E G H54289179OMIM:258450Progressive external ophthalmoplegia with mitochondrial DNA deletions,autosomal recessive.464
HP:0002936HP:0006858Impaired distal proprioception1POLG CL E G H54289179OMIM:607459Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis.464
HP:0002936HP:0006937Impaired distal tactile sensation1POLG CL E G H54289179OMIM:607459Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis464
HP:0002936HP:0006858Impaired distal proprioception1POLG CL E G H54289179ORPHA:70595Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndromeHP:0040282 - Frequent464
HP:0002936HP:0006858Impaired distal proprioception1POLR3A CL E G H1112830074ORPHA:447896Tremor-ataxia-central hypomyelination syndromeHP:0040283 - Occasional138
HP:0002936HP:0006858Impaired distal proprioception1POLR3B CL E G H5570330348OMIM:619742CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1I; CMT1I67
HP:0002936HP:0006937Impaired distal tactile sensation1RAB7A CL E G H78799788OMIM:600882Charcot-Marie-Tooth disease, axonal, type 2B50
HP:0002936HP:0006937Impaired distal tactile sensation1SETX CL E G H23064445OMIM:606002Spinocerebellar ataxia, autosomal recessive 1162
HP:0002936HP:0006937Impaired distal tactile sensation1SPTLC1 CL E G H1055811277ORPHA:36386Hereditary sensory and autonomic neuropathy type 1HP:0040282 - Frequent54
HP:0002936HP:0006937Impaired distal tactile sensation1SPTLC1 CL E G H1055811277OMIM:162400Neuropathy, hereditary sensory and autonomic, type IA54
HP:0002936HP:0006858Impaired distal proprioception1SPTLC1 CL E G H1055811277OMIM:162400Neuropathy, hereditary sensory and autonomic, type IA54
HP:0002936HP:0006937Impaired distal tactile sensation1SPTLC2 CL E G H951711278ORPHA:36386Hereditary sensory and autonomic neuropathy type 1HP:0040282 - Frequent149
HP:0002936HP:0006858Impaired distal proprioception1TDP1 CL E G H5577518884ORPHA:94124Spinocerebellar ataxia with axonal neuropathy type 1HP:0040282 - Frequent52
HP:0002936HP:0006858Impaired distal proprioception1TWNK CL E G H566521160OMIM:607459Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis.113
HP:0002936HP:0006937Impaired distal tactile sensation1TWNK CL E G H566521160OMIM:607459Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis113
HP:0002936HP:0006858Impaired distal proprioception1TWNK CL E G H566521160ORPHA:70595Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndromeHP:0040282 - Frequent113
HP:0002936HP:0006858Impaired distal proprioception1XRCC1 CL E G H751512828OMIM:617633Spinocerebellar ataxia, autosomal recessive 264


Genes (124) :AARS1 AASS ABCD1 ABHD12 ADA2 AIFM1 ALDH4A1 APTX ATL1 ATL3 ATP13A2 ATP7A ATXN1 ATXN10 BAG3 BSCL2 C19ORF12 CADM3 CAPN1 CAV1 CCT5 CHCHD10 COA7 COX6A1 CYP7B1 DARS2 DCAF8 DDHD1 DHH DNAJB2 DNM2 DYNC1H1 EGR2 FBLN5 FGD4 FIG4 GAN GARS1 GBE1 GBF1 GDAP1 GJB1 GJC2 GNB4 HARS1 HINT1 HK1 HSPB1 HSPB8 IARS2 IBA57 IGHMBP2 INF2 JPH1 KARS1 KIF1A KIF1B KIF5A KLHL9 LITAF LMNA LMNB1 LRSAM1 MARS1 MATR3 MCM3AP MED25 MFN2 MME MORC2 MPV17 MPZ MSTO1 MTMR2 MTRFR MTTP MYH14 NAGA NAGLU NDRG1 NEFH NEFL NTRK1 PDK3 PEX10 PIK3R5 PLEKHG5 PMP2 PMP22 PNKP PNPT1 POLG POLR3A POLR3B PRPS1 PRX RAB7A RAI1 RASA1 REEP1 SACS SAMD9L SBF1 SBF2 SCYL1 SERPINI1 SETX SH3TC2 SLC25A19 SLC25A46 SOX10 SPG11 SPTLC1 SPTLC2 SYT2 TDP1 TFG TK2 TRPV4 TWNK TYMP VCP XRCC1 YARS1

Diseases (166) :OMIM:613287 ORPHA:3124 ORPHA:139399 OMIM:612674 OMIM:182410 OMIM:310490 OMIM:300614 ORPHA:79101 OMIM:208920 ORPHA:36386 OMIM:613708 OMIM:606693 OMIM:617225 OMIM:300489 OMIM:164400 OMIM:603516 OMIM:612954 ORPHA:100998 OMIM:270685 OMIM:615043 OMIM:619519 OMIM:616907 OMIM:606721 OMIM:256840 OMIM:615048 OMIM:618387 OMIM:616039 OMIM:270800 ORPHA:137898 OMIM:610100 OMIM:609340 OMIM:607080 OMIM:614881 OMIM:606482 OMIM:614228 OMIM:145900 OMIM:619764 OMIM:608895 OMIM:609311 OMIM:611228 ORPHA:643 OMIM:256850 OMIM:601472 ORPHA:206583 OMIM:263570 OMIM:606483 ORPHA:99944 ORPHA:101097 ORPHA:99948 OMIM:607831 OMIM:607706 OMIM:608340 OMIM:214400 OMIM:302800 OMIM:613206 OMIM:615185 ORPHA:488333 OMIM:616625 OMIM:137200 ORPHA:99953 OMIM:606595 OMIM:608673 OMIM:616007 OMIM:616451 OMIM:616155 OMIM:614455 OMIM:613641 ORPHA:101010 OMIM:614213 OMIM:118210 ORPHA:100991 OMIM:604187 ORPHA:399081 OMIM:601098 ORPHA:98856 OMIM:605588 ORPHA:99027 OMIM:614436 OMIM:616280 OMIM:606070 ORPHA:600 OMIM:618124 OMIM:605589 ORPHA:99947 OMIM:617087 OMIM:609260 OMIM:601152 OMIM:617017 OMIM:617018 ORPHA:497764 OMIM:616688 OMIM:618400 OMIM:256810 OMIM:607677 OMIM:118200 OMIM:607791 OMIM:607736 OMIM:180800 OMIM:617675 OMIM:601382 ORPHA:320375 ORPHA:254930 OMIM:613559 OMIM:615035 ORPHA:14 OMIM:614369 OMIM:609242 OMIM:616491 ORPHA:99950 OMIM:601455 OMIM:616924 OMIM:607684 OMIM:607734 OMIM:617882 ORPHA:642 ORPHA:352675 OMIM:614871 OMIM:615217 OMIM:615376 OMIM:618279 OMIM:118300 ORPHA:101081 ORPHA:90658 OMIM:118220 ORPHA:101111 ORPHA:254886 OMIM:603041 OMIM:157640 OMIM:258450 OMIM:607459 ORPHA:70595 ORPHA:447896 OMIM:619742 OMIM:311070 OMIM:614895 OMIM:600882 ORPHA:477817 ORPHA:90307 ORPHA:101011 OMIM:610250 OMIM:270550 OMIM:159550 OMIM:615284 ORPHA:99956 OMIM:604563 OMIM:616719 OMIM:604218 OMIM:606002 OMIM:601596 OMIM:613710 OMIM:616505 OMIM:609136 OMIM:616668 OMIM:162400 OMIM:613640 OMIM:616040 ORPHA:94124 OMIM:607250 ORPHA:90117 OMIM:604484 OMIM:606071 OMIM:181405 ORPHA:435387 OMIM:616687 OMIM:617633 OMIM:608323
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.