Human Phenotype Ontology 
Grandparent Node:
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Peripheral neuropathy (HP:0009830)help
Parent Node:
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Sensory neuropathy (HP:0000763)help
..Starting node
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Paresthesia (HP:0003401)help
Term ID: 3401
Name: Paresthesia
Synonym: Paresthesias; Pins and needles feeling; Tingling
Definition: Abnormal sensations such as tingling, pricking, or numbness of the skin with no apparent physical cause.
Comments:
Reference: HP:0003401
Genes and Diseases:
 
       Child Nodes:
........expandDysesthesia (HP:0012534) help
........expandAcroparesthesia (HP:0031006) help

 Sister Nodes: 
..expandDistal peripheral sensory neuropathy (HP:0007067) help
..expandDistal sensory impairment of all modalities (HP:0003409) help
..expandHyperesthesia (HP:0100963) help
..expandSensory ataxic neuropathy (HP:0003434) help
..expandSensory axonal neuropathy (HP:0003390) 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:0003401HP:0003401Paresthesia0AIP CL E G H9049358ORPHA:963AcromegalyHP:0040282 - Frequent95
HP:0003401HP:0003401Paresthesia0ALAD CL E G H210395OMIM:612740Porphyria, acute hepatic.62
HP:0003401HP:0003401Paresthesia0APP CL E G H351620ORPHA:324703ABetaL34V amyloidosisHP:0040281 - Very frequent74
HP:0003401HP:0003401Paresthesia0ATL1 CL E G H5106211231OMIM:613708Neuropathy, hereditary sensory, type ID.71
HP:0003401HP:0003401Paresthesia0ATP1A2 CL E G H477800ORPHA:569Familial or sporadic hemiplegic migraineHP:0040282 - Frequent239
HP:0003401HP:0003401Paresthesia0ATXN1 CL E G H631010548OMIM:164400Spinocerebellar ataxia 119
HP:0003401HP:0003401Paresthesia0BMPR1A CL E G H6571076ORPHA:440437Familial colorectal cancer Type XHP:0040283 - Occasional385
HP:0003401HP:0003401Paresthesia0C4A CL E G H7201323ORPHA:117Behçet diseaseHP:0040283 - Occasional1
HP:0003401HP:0003401Paresthesia0CACNA1A CL E G H7731388OMIM:108500Episodic ataxia, type 2.449
HP:0003401HP:0003401Paresthesia0CACNA1A CL E G H7731388ORPHA:569Familial or sporadic hemiplegic migraineHP:0040282 - Frequent449
HP:0003401HP:0003401Paresthesia0CALR CL E G H8111455ORPHA:3318Essential thrombocythemiaHP:0040281 - Very frequent1
HP:0003401HP:0003401Paresthesia0CASR CL E G H8461514ORPHA:428Autosomal dominant hypocalcemiaHP:0040281 - Very frequent272
HP:0003401HP:0003401Paresthesia0CASR CL E G H8461514OMIM:601198Hypocalcemia, autosomal dominant 1272
HP:0003401HP:0003401Paresthesia0CBLIF CL E G H26944268OMIM:261000Intrinsic factor deficiency.
HP:0003401HP:0003401Paresthesia0CCND1 CL E G H5951582ORPHA:29073Multiple myelomaHP:0040283 - Occasional1
HP:0003401HP:0003401Paresthesia0CCR1 CL E G H12301602ORPHA:117Behçet diseaseHP:0040283 - Occasional
HP:0003401HP:0003401Paresthesia0CLCNKB CL E G H11882027ORPHA:358Gitelman syndromeHP:0040284 - Very rare27
HP:0003401HP:0003401Paresthesia0COMP CL E G H13112227OMIM:619161CARPAL TUNNEL SYNDROME 2; CTS289
HP:0003401HP:0003401Paresthesia0CTDP1 CL E G H91502498ORPHA:48431Congenital cataracts-facial dysmorphism-neuropathy syndromeHP:0040281 - Very frequent17
HP:0003401HP:0003401Paresthesia0CUBN CL E G H80292548OMIM:261100Megaloblastic anemia 1.273
HP:0003401HP:0003401Paresthesia0DEPDC5 CL E G H968118423ORPHA:98820Familial focal epilepsy with variable fociHP:0040283 - Occasional172
HP:0003401HP:0003401Paresthesia0EPCAM CL E G H407211529ORPHA:144Lynch syndromeHP:0040283 - Occasional170
HP:0003401HP:0003401Paresthesia0ERAP1 CL E G H5175218173ORPHA:117Behçet diseaseHP:0040283 - Occasional1
HP:0003401HP:0003401Paresthesia0FAN1 CL E G H2290929170ORPHA:144Lynch syndromeHP:0040283 - Occasional15
HP:0003401HP:0003401Paresthesia0FAS CL E G H35511920ORPHA:117Behçet diseaseHP:0040283 - Occasional59
HP:0003401HP:0003401Paresthesia0GABRG2 CL E G H25664087ORPHA:1945Rolandic epilepsyHP:0040283 - Occasional139
HP:0003401HP:0003401Paresthesia0GALC CL E G H25814115ORPHA:206448Adult Krabbe disease160
HP:0003401HP:0003401Paresthesia0GALC CL E G H25814115ORPHA:206443Late-infantile/juvenile Krabbe disease160
HP:0003401HP:0003401Paresthesia0GATA1 CL E G H26234170ORPHA:79277Congenital erythropoietic porphyriaHP:0040284 - Very rare29
HP:0003401HP:0003401Paresthesia0GBE1 CL E G H26324180OMIM:263570Polyglucosan body neuropathy, adult form.86
HP:0003401HP:0003401Paresthesia0GLA CL E G H27174296OMIM:301500Fabry disease.291
HP:0003401HP:0003401Paresthesia0GNA11 CL E G H27674379ORPHA:428Autosomal dominant hypocalcemiaHP:0040281 - Very frequent16
HP:0003401HP:0003401Paresthesia0GNA11 CL E G H27674379OMIM:615361Hypocalcemia, autosomal dominant 2.16
HP:0003401HP:0003401Paresthesia0GNA14 CL E G H96304382ORPHA:1063Tufted angiomaHP:0040283 - Occasional
HP:0003401HP:0003401Paresthesia0GNAS CL E G H27784392ORPHA:562McCune-Albright syndromeHP:0040283 - Occasional101
HP:0003401HP:0003401Paresthesia0GNAS CL E G H27784392ORPHA:79443Pseudohypoparathyroidism type 1AHP:0040283 - Occasional101
HP:0003401HP:0003401Paresthesia0GNAS CL E G H27784392ORPHA:94089Pseudohypoparathyroidism type 1BHP:0040283 - Occasional101
HP:0003401HP:0003401Paresthesia0GNAS CL E G H27784392ORPHA:79444Pseudohypoparathyroidism type 1CHP:0040283 - Occasional101
HP:0003401HP:0003401Paresthesia0GPR101 CL E G H8355014963ORPHA:963AcromegalyHP:0040282 - Frequent5
HP:0003401HP:0003401Paresthesia0GRIN2A CL E G H29034585ORPHA:1945Rolandic epilepsyHP:0040283 - Occasional434
HP:0003401HP:0003401Paresthesia0HEXB CL E G H30744879ORPHA:309162Sandhoff disease, juvenile form80
HP:0003401HP:0003401Paresthesia0HINT1 CL E G H30944912ORPHA:324442Autosomal recessive axonal neuropathy with neuromyotoniaHP:0040283 - Occasional12
HP:0003401HP:0003401Paresthesia0HLA-B CL E G H31064932ORPHA:117Behçet diseaseHP:0040283 - Occasional4
HP:0003401HP:0003401Paresthesia0HLA-B CL E G H31064932ORPHA:397Giant cell arteritisHP:0040283 - Occasional4
HP:0003401HP:0003401Paresthesia0HLA-DQB1 CL E G H31194944OMIM:126200Multiple sclerosis, susceptibility to.
HP:0003401HP:0003401Paresthesia0HLA-DRB1 CL E G H31234948ORPHA:397Giant cell arteritisHP:0040283 - Occasional2
HP:0003401HP:0003401Paresthesia0HLA-DRB1 CL E G H31234948OMIM:126200Multiple sclerosis, susceptibility to.2
HP:0003401HP:0003401Paresthesia0HMBS CL E G H31454982OMIM:176000Porphyria, acute intermittent.81
HP:0003401HP:0003401Paresthesia0HPDL CL E G H8484228242OMIM:619027SPASTIC PARAPLEGIA 83, AUTOSOMAL RECESSIVE; SPG83
HP:0003401HP:0003401Paresthesia0IFNGR1 CL E G H34595439ORPHA:117Behçet diseaseHP:0040283 - Occasional60
HP:0003401HP:0003401Paresthesia0IL10 CL E G H35865962ORPHA:117Behçet diseaseHP:0040283 - Occasional2
HP:0003401HP:0003401Paresthesia0IL12A CL E G H35925969ORPHA:117Behçet diseaseHP:0040283 - Occasional
HP:0003401HP:0003401Paresthesia0IL12A-AS1 CL E G H10192837649094ORPHA:117Behçet diseaseHP:0040283 - Occasional
HP:0003401HP:0003401Paresthesia0IL23R CL E G H14923319100ORPHA:117Behçet diseaseHP:0040283 - Occasional1
HP:0003401HP:0003401Paresthesia0JAK2 CL E G H37176192ORPHA:3318Essential thrombocythemiaHP:0040281 - Very frequent57
HP:0003401HP:0003401Paresthesia0JAK2 CL E G H37176192ORPHA:71493Familial thrombocytosisHP:0040282 - Frequent57
HP:0003401HP:0003401Paresthesia0KCNJ1 CL E G H37586255OMIM:241200Bartter syndrome, antenatal, type 2.51
HP:0003401HP:0003401Paresthesia0KIF5A CL E G H37986323ORPHA:100991Autosomal dominant spastic paraplegia type 10HP:0040283 - Occasional93
HP:0003401HP:0003401Paresthesia0KLRC4 CL E G H83026377ORPHA:117Behçet diseaseHP:0040283 - Occasional
HP:0003401HP:0003401Paresthesia0KRAS CL E G H38456407ORPHA:144Lynch syndromeHP:0040283 - Occasional196
HP:0003401HP:0003401Paresthesia0KRT14 CL E G H38616416ORPHA:79400Localized epidermolysis bullosa simplexHP:0040282 - Frequent110
HP:0003401HP:0003401Paresthesia0KRT5 CL E G H38526442ORPHA:79400Localized epidermolysis bullosa simplexHP:0040282 - Frequent173
HP:0003401HP:0003401Paresthesia0LIFR CL E G H39776597ORPHA:3206Stüve-Wiedemann syndromeHP:0040281 - Very frequent144
HP:0003401HP:0003401Paresthesia0LIG3 CL E G H39806600ORPHA:298Mitochondrial neurogastrointestinal encephalomyopathyHP:0040282 - Frequent1
HP:0003401HP:0003401Paresthesia0LITAF CL E G H951616841OMIM:601098Charcot-Marie-Tooth disease, demyelinating, type 1C74
HP:0003401HP:0003401Paresthesia0LMX1B CL E G H40106654ORPHA:2614Nail-patella syndrome165
HP:0003401HP:0003401Paresthesia0MEFV CL E G H42106998ORPHA:117Behçet diseaseHP:0040283 - Occasional281
HP:0003401HP:0003401Paresthesia0MEN1 CL E G H42217010ORPHA:97279InsulinomaHP:0040283 - Occasional462
HP:0003401HP:0003401Paresthesia0MFN2 CL E G H992716877ORPHA:99947Autosomal dominant Charcot-Marie-Tooth disease type 2A2HP:0040283 - Occasional203
HP:0003401HP:0003401Paresthesia0MFN2 CL E G H992716877ORPHA:2398Multiple symmetric lipomatosisHP:0040282 - Frequent203
HP:0003401HP:0003401Paresthesia0MLH1 CL E G H42927127ORPHA:144Lynch syndromeHP:0040283 - Occasional1819
HP:0003401HP:0003401Paresthesia0MLH3 CL E G H270307128ORPHA:144Lynch syndromeHP:0040283 - Occasional131
HP:0003401HP:0003401Paresthesia0MPL CL E G H43527217ORPHA:3318Essential thrombocythemiaHP:0040281 - Very frequent97
HP:0003401HP:0003401Paresthesia0MPL CL E G H43527217ORPHA:71493Familial thrombocytosisHP:0040282 - Frequent97
HP:0003401HP:0003401Paresthesia0MSH2 CL E G H44367325ORPHA:144Lynch syndromeHP:0040283 - Occasional2162
HP:0003401HP:0003401Paresthesia0MSH6 CL E G H29567329ORPHA:144Lynch syndromeHP:0040283 - Occasional2232
HP:0003401HP:0003401Paresthesia0MTHFR CL E G H45247436OMIM:236250Homocystinuria due to deficiency of n(5,10)-methylenetetrahydrofolatereductase activity.183
HP:0003401HP:0003401Paresthesia0NAGA CL E G H46687631ORPHA:79279Alpha-N-acetylgalactosaminidase deficiency type 1HP:0040283 - Occasional47
HP:0003401HP:0003401Paresthesia0NAGLU CL E G H46697632OMIM:616491Charcot-Marie-Tooth disease, axonal, type 2V.72
HP:0003401HP:0003401Paresthesia0NEFL CL E G H47477739ORPHA:101085Charcot-Marie-Tooth disease type 1FHP:0040283 - Occasional118
HP:0003401HP:0003401Paresthesia0NPRL2 CL E G H1064124969ORPHA:98820Familial focal epilepsy with variable fociHP:0040283 - Occasional4
HP:0003401HP:0003401Paresthesia0NPRL3 CL E G H813114124ORPHA:98820Familial focal epilepsy with variable fociHP:0040283 - Occasional7
HP:0003401HP:0003401Paresthesia0OPA3 CL E G H802078142ORPHA:67036Autosomal dominant optic atrophy and cataractHP:0040282 - Frequent163
HP:0003401HP:0003401Paresthesia0P4HA2 CL E G H89748547ORPHA:397Giant cell arteritisHP:0040283 - Occasional3
HP:0003401HP:0003401Paresthesia0PDCD1 CL E G H51338760OMIM:126200Multiple sclerosis, susceptibility to.1
HP:0003401HP:0003401Paresthesia0PIK3CA CL E G H52908975ORPHA:144Lynch syndromeHP:0040283 - Occasional162
HP:0003401HP:0003401Paresthesia0PMP22 CL E G H53769118ORPHA:101081Charcot-Marie-Tooth disease type 1AHP:0040283 - Occasional79
HP:0003401HP:0003401Paresthesia0PMP22 CL E G H53769118ORPHA:90658Charcot-Marie-Tooth disease type 1E79
HP:0003401HP:0003401Paresthesia0PMP22 CL E G H53769118ORPHA:640Hereditary neuropathy with liability to pressure palsiesHP:0040282 - Frequent79
HP:0003401HP:0003401Paresthesia0PMP22 CL E G H53769118OMIM:162500Neuropathy, hereditary, with liability to pressure palsies79
HP:0003401HP:0003401Paresthesia0PMS1 CL E G H53789121ORPHA:144Lynch syndromeHP:0040283 - Occasional56
HP:0003401HP:0003401Paresthesia0PMS2 CL E G H53959122ORPHA:144Lynch syndromeHP:0040283 - Occasional1121
HP:0003401HP:0003401Paresthesia0POLG CL E G H54289179ORPHA:254886Autosomal recessive progressive external ophthalmoplegiaHP:0040282 - Frequent464
HP:0003401HP:0003401Paresthesia0POLG CL E G H54289179ORPHA:298Mitochondrial neurogastrointestinal encephalomyopathyHP:0040282 - Frequent464
HP:0003401HP:0003401Paresthesia0PRNP CL E G H56219449ORPHA:356Gerstmann-Straussler-Scheinker syndromeHP:0040282 - Frequent69
HP:0003401HP:0003401Paresthesia0PRRT2 CL E G H11247630500ORPHA:569Familial or sporadic hemiplegic migraineHP:0040282 - Frequent94
HP:0003401HP:0003401Paresthesia0PRRT2 CL E G H11247630500ORPHA:98811Paroxysmal exertion-induced dyskinesiaHP:0040282 - Frequent94
HP:0003401HP:0003401Paresthesia0PTPN22 CL E G H261919652ORPHA:397Giant cell arteritisHP:0040283 - Occasional3
HP:0003401HP:0003401Paresthesia0RPS20 CL E G H622410405ORPHA:440437Familial colorectal cancer Type XHP:0040283 - Occasional1
HP:0003401HP:0003401Paresthesia0RRM2B CL E G H5048417296ORPHA:298Mitochondrial neurogastrointestinal encephalomyopathyHP:0040282 - Frequent125
HP:0003401HP:0003401Paresthesia0SBF2 CL E G H818462135ORPHA:99956Charcot-Marie-Tooth disease type 4B2180
HP:0003401HP:0003401Paresthesia0SCN1A CL E G H632310585ORPHA:569Familial or sporadic hemiplegic migraineHP:0040282 - Frequent1053
HP:0003401HP:0003401Paresthesia0SCN4A CL E G H632910591ORPHA:682Hyperkalemic periodic paralysisHP:0040283 - Occasional263
HP:0003401HP:0003401Paresthesia0SCYL1 CL E G H5741014372ORPHA:466794Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndromeHP:0040282 - Frequent5
HP:0003401HP:0003401Paresthesia0SEMA4A CL E G H6421810729ORPHA:440437Familial colorectal cancer Type XHP:0040283 - Occasional48
HP:0003401HP:0003401Paresthesia0SEPTIN9 CL E G H108017323ORPHA:2901Neuralgic amyotrophyHP:0040282 - Frequent
HP:0003401HP:0003401Paresthesia0SERPING1 CL E G H7101228ORPHA:100050Hereditary angioedema type 1HP:0040281 - Very frequent64
HP:0003401HP:0003401Paresthesia0SH2B3 CL E G H1001929605ORPHA:3318Essential thrombocythemiaHP:0040281 - Very frequent4
HP:0003401HP:0003401Paresthesia0SLC12A1 CL E G H655710910OMIM:601678Bartter syndrome, type 1, antenatal.75
HP:0003401HP:0003401Paresthesia0SLC12A3 CL E G H655910912OMIM:263800Gitelman syndrome145
HP:0003401HP:0003401Paresthesia0SLC12A3 CL E G H655910912ORPHA:358Gitelman syndromeHP:0040284 - Very rare145
HP:0003401HP:0003401Paresthesia0SLC19A2 CL E G H1056010938ORPHA:49827Thiamine-responsive megaloblastic anemia syndromeHP:0040281 - Very frequent55
HP:0003401HP:0003401Paresthesia0SLC26A2 CL E G H183610994ORPHA:93307Multiple epiphyseal dysplasia type 4166
HP:0003401HP:0003401Paresthesia0SLC2A1 CL E G H651311005OMIM:601042Dystonia 9.255
HP:0003401HP:0003401Paresthesia0SLC2A1 CL E G H651311005ORPHA:53583Paroxysmal dystonic choreathetosis with episodic ataxia and spasticityHP:0040282 - Frequent255
HP:0003401HP:0003401Paresthesia0SLC2A1 CL E G H651311005ORPHA:98811Paroxysmal exertion-induced dyskinesiaHP:0040282 - Frequent255
HP:0003401HP:0003401Paresthesia0SPTLC2 CL E G H951711278OMIM:613640Neuropathy, hereditary sensory and autonomic, type IC149
HP:0003401HP:0003401Paresthesia0SRPX2 CL E G H2728630668ORPHA:1945Rolandic epilepsyHP:0040283 - Occasional50
HP:0003401HP:0003401Paresthesia0STAT4 CL E G H677511365ORPHA:117Behçet diseaseHP:0040283 - Occasional2
HP:0003401HP:0003401Paresthesia0STX16 CL E G H867511431ORPHA:94089Pseudohypoparathyroidism type 1BHP:0040283 - Occasional86
HP:0003401HP:0003401Paresthesia0TET2 CL E G H5479025941ORPHA:3318Essential thrombocythemiaHP:0040281 - Very frequent3
HP:0003401HP:0003401Paresthesia0TGFBR2 CL E G H704811773ORPHA:144Lynch syndromeHP:0040283 - Occasional253
HP:0003401HP:0003401Paresthesia0THPO CL E G H706611795ORPHA:71493Familial thrombocytosisHP:0040282 - Frequent23
HP:0003401HP:0003401Paresthesia0TK2 CL E G H708411831ORPHA:254886Autosomal recessive progressive external ophthalmoplegiaHP:0040282 - Frequent103
HP:0003401HP:0003401Paresthesia0TLR4 CL E G H709911850ORPHA:117Behçet diseaseHP:0040283 - Occasional3
HP:0003401HP:0003401Paresthesia0TNFRSF1A CL E G H713211916ORPHA:32960Tumor necrosis factor receptor 1 associated periodic syndromeHP:0040283 - Occasional131
HP:0003401HP:0003401Paresthesia0TP53 CL E G H715711998ORPHA:3318Essential thrombocythemiaHP:0040281 - Very frequent911
HP:0003401HP:0003401Paresthesia0TRAPPC2 CL E G H639923068ORPHA:93284Spondyloepiphyseal dysplasia tardaHP:0040284 - Very rare46
HP:0003401HP:0003401Paresthesia0TRIM32 CL E G H2295416380OMIM:254110Muscular dystrophy, limb-girdle, type 2H108
HP:0003401HP:0003401Paresthesia0TYMP CL E G H18903148ORPHA:298Mitochondrial neurogastrointestinal encephalomyopathyHP:0040282 - Frequent138
HP:0003401HP:0003401Paresthesia0UBAC2 CL E G H33786720486ORPHA:117Behçet diseaseHP:0040283 - Occasional
HP:0003401HP:0003401Paresthesia0UROD CL E G H738912591ORPHA:95159Hepatoerythropoietic porphyriaHP:0040284 - Very rare31
HP:0003401HP:0003401Paresthesia0UROS CL E G H739012592ORPHA:79277Congenital erythropoietic porphyriaHP:0040284 - Very rare41
HP:0003401HP:0003401Paresthesia0VCP CL E G H741512666ORPHA:435387Autosomal dominant Charcot-Marie-Tooth disease type 2YHP:0040283 - Occasional63
HP:0003401HP:0003401Paresthesia0VWA1 CL E G H6485630910OMIM:619216NEUROPATHY, HEREDITARY MOTOR, WITH MYOPATHIC FEATURES; HMNMYO
HP:0003401HP:0003401Paresthesia0YY1 CL E G H752812856ORPHA:97279InsulinomaHP:0040283 - Occasional7
HP:0003401HP:0031006Acroparesthesia1COMP CL E G H13112227OMIM:619161CARPAL TUNNEL SYNDROME 2; CTS289
HP:0003401HP:0031006Acroparesthesia1GALC CL E G H25814115ORPHA:206448Adult Krabbe diseaseHP:0040283 - Occasional160
HP:0003401HP:0031006Acroparesthesia1GALC CL E G H25814115ORPHA:206443Late-infantile/juvenile Krabbe diseaseHP:0040283 - Occasional160
HP:0003401HP:0031006Acroparesthesia1HEXB CL E G H30744879ORPHA:309162Sandhoff disease, juvenile form80
HP:0003401HP:0031006Acroparesthesia1LMX1B CL E G H40106654ORPHA:2614Nail-patella syndromeHP:0040283 - Occasional165
HP:0003401HP:0031006Acroparesthesia1PMP22 CL E G H53769118ORPHA:90658Charcot-Marie-Tooth disease type 1EHP:0040282 - Frequent79
HP:0003401HP:0031006Acroparesthesia1PMP22 CL E G H53769118OMIM:162500Neuropathy, hereditary, with liability to pressure palsies79
HP:0003401HP:0031006Acroparesthesia1PRNP CL E G H56219449ORPHA:356Gerstmann-Straussler-Scheinker syndromeHP:0040282 - Frequent69
HP:0003401HP:0031006Acroparesthesia1SLC26A2 CL E G H183610994ORPHA:93307Multiple epiphyseal dysplasia type 4HP:0040283 - Occasional166
HP:0003401HP:0031006Acroparesthesia1SPTLC2 CL E G H951711278OMIM:613640Neuropathy, hereditary sensory and autonomic, type IC149
HP:0003401HP:0033660Hand paresthesia2COMP CL E G H13112227OMIM:619161CARPAL TUNNEL SYNDROME 2; CTS289
HP:0003401HP:0033660Hand paresthesia2PMP22 CL E G H53769118OMIM:162500Neuropathy, hereditary, with liability to pressure palsies79
HP:0003401HP:0033660Hand paresthesia2SPTLC2 CL E G H951711278OMIM:613640Neuropathy, hereditary sensory and autonomic, type IC149


Genes (116) :AIP ALAD APP ATL1 ATP1A2 ATXN1 BMPR1A C4A CACNA1A CALR CASR CBLIF CCND1 CCR1 CLCNKB COMP CTDP1 CUBN DEPDC5 EPCAM ERAP1 FAN1 FAS GABRG2 GALC GATA1 GBE1 GLA GNA11 GNA14 GNAS GPR101 GRIN2A HEXB HINT1 HLA-B HLA-DQB1 HLA-DRB1 HMBS HPDL IFNGR1 IL10 IL12A IL12A-AS1 IL23R JAK2 KCNJ1 KIF5A KLRC4 KRAS KRT14 KRT5 LIFR LIG3 LITAF LMX1B MEFV MEN1 MFN2 MLH1 MLH3 MPL MSH2 MSH6 MTHFR NAGA NAGLU NEFL NPRL2 NPRL3 OPA3 P4HA2 PDCD1 PIK3CA PMP22 PMS1 PMS2 POLG PRNP PRRT2 PTPN22 RPS20 RRM2B SBF2 SCN1A SCN4A SCYL1 SEMA4A SEPTIN9 SERPING1 SH2B3 SLC12A1 SLC12A3 SLC19A2 SLC26A2 SLC2A1 SPTLC2 SRPX2 STAT4 STX16 TET2 TGFBR2 THPO TK2 TLR4 TNFRSF1A TP53 TRAPPC2 TRIM32 TYMP UBAC2 UROD UROS VCP VWA1 YY1

Diseases (79) :ORPHA:963 OMIM:612740 ORPHA:324703 OMIM:613708 ORPHA:569 OMIM:164400 ORPHA:440437 ORPHA:117 OMIM:108500 ORPHA:3318 ORPHA:428 OMIM:601198 OMIM:261000 ORPHA:29073 ORPHA:358 OMIM:619161 ORPHA:48431 OMIM:261100 ORPHA:98820 ORPHA:144 ORPHA:1945 ORPHA:206448 ORPHA:206443 ORPHA:79277 OMIM:263570 OMIM:301500 OMIM:615361 ORPHA:1063 ORPHA:562 ORPHA:79443 ORPHA:94089 ORPHA:79444 ORPHA:309162 ORPHA:324442 ORPHA:397 OMIM:126200 OMIM:176000 OMIM:619027 ORPHA:71493 OMIM:241200 ORPHA:100991 ORPHA:79400 ORPHA:3206 ORPHA:298 OMIM:601098 ORPHA:2614 ORPHA:97279 ORPHA:99947 ORPHA:2398 OMIM:236250 ORPHA:79279 OMIM:616491 ORPHA:101085 ORPHA:67036 ORPHA:101081 ORPHA:90658 ORPHA:640 OMIM:162500 ORPHA:254886 ORPHA:356 ORPHA:98811 ORPHA:99956 ORPHA:682 ORPHA:466794 ORPHA:2901 ORPHA:100050 OMIM:601678 OMIM:263800 ORPHA:49827 ORPHA:93307 OMIM:601042 ORPHA:53583 OMIM:613640 ORPHA:32960 ORPHA:93284 OMIM:254110 ORPHA:95159 ORPHA:435387 OMIM:619216
 

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