Human Phenotype Ontology 
Grandparent Node:
expand
Somatic sensory dysfunction (HP:0003474)help
Parent Node:
expand
Abnormality of pain sensation (HP:0010832)help
..Starting node
..expand
Impaired pain sensation (HP:0007328)help
Term ID: 7328
Name: Impaired pain sensation
Synonym: Decreased pain sensation; Decreased pinprick sensation; Impaired pain sensation
Definition: Reduced ability to perceive painful stimuli.
Comments:
Reference: HP:0007328
Genes and Diseases:
 
       Child Nodes:
........expandPain insensitivity (HP:0007021) help

 Sister Nodes: 
..expandobsolete Hyperalgesia (HP:0031005) help
..expandPainless fractures due to injury (HP:0002661) help
..expandSpontaneous pain sensation (HP:0010833) help
..expandTrophic changes related to pain (HP:0010834) 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:0007328HP:0007328Impaired pain sensation0ABCA1 CL E G H1929OMIM:205400Tangier disease.191
HP:0007328HP:0007328Impaired pain sensation0AIFM1 CL E G H91318768ORPHA:101078X-linked Charcot-Marie-Tooth disease type 4HP:0040282 - Frequent60
HP:0007328HP:0007328Impaired pain sensation0ATL1 CL E G H5106211231ORPHA:36386Hereditary sensory and autonomic neuropathy type 171
HP:0007328HP:0007328Impaired pain sensation0ATL3 CL E G H2592324526ORPHA:36386Hereditary sensory and autonomic neuropathy type 15
HP:0007328HP:0007328Impaired pain sensation0ATXN1 CL E G H631010548OMIM:164400Spinocerebellar ataxia 119
HP:0007328HP:0007328Impaired pain sensation0CCT5 CL E G H229481618ORPHA:139578Mutilating hereditary sensory neuropathy with spastic paraplegiaHP:0040281 - Very frequent56
HP:0007328HP:0007328Impaired pain sensation0CDKL5 CL E G H679211411ORPHA:3095Atypical Rett syndromeHP:0040283 - Occasional405
HP:0007328HP:0007328Impaired pain sensation0CDKL5 CL E G H679211411ORPHA:505652CDKL5-deficiency disorderHP:0040282 - Frequent405
HP:0007328HP:0007328Impaired pain sensation0CHAMP1 CL E G H28348920311OMIM:616579Mental retardation, autosomal dominant 40.16
HP:0007328HP:0007328Impaired pain sensation0CLTCL1 CL E G H82182093ORPHA:453510Congenital insensitivity to pain with severe intellectual disability6
HP:0007328HP:0007328Impaired pain sensation0DDHD1 CL E G H8082119714ORPHA:101008Autosomal recessive spastic paraplegia type 2835
HP:0007328HP:0007328Impaired pain sensation0DEAF1 CL E G H1052214677ORPHA:819Smith-Magenis syndromeHP:0040282 - Frequent33
HP:0007328HP:0007328Impaired pain sensation0DNM1L CL E G H100592973OMIM:614388Encephalopathy due to defective mitochondrial and peroxisomal fission 194
HP:0007328HP:0007328Impaired pain sensation0EBF3 CL E G H25373819087OMIM:617330HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME; HADDS25
HP:0007328HP:0007328Impaired pain sensation0ELP1 CL E G H85185959ORPHA:1764Familial dysautonomiaHP:0040281 - Very frequent133
HP:0007328HP:0007328Impaired pain sensation0FBN1 CL E G H22003603ORPHA:2833Stiff skin syndromeHP:0040283 - Occasional1361
HP:0007328HP:0007328Impaired pain sensation0FLII CL E G H23143750ORPHA:819Smith-Magenis syndromeHP:0040282 - Frequent
HP:0007328HP:0007328Impaired pain sensation0GABBR2 CL E G H95684507ORPHA:3095Atypical Rett syndromeHP:0040283 - Occasional5
HP:0007328HP:0007328Impaired pain sensation0GDAP1 CL E G H5433215968ORPHA:101097Autosomal recessive Charcot-Marie-Tooth disease with hoarseness108
HP:0007328HP:0007328Impaired pain sensation0GDAP1 CL E G H5433215968ORPHA:99948Charcot-Marie-Tooth disease type 4A108
HP:0007328HP:0007328Impaired pain sensation0GDAP1 CL E G H5433215968OMIM:607706Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomalrecessive108
HP:0007328HP:0007328Impaired pain sensation0GJB1 CL E G H27054283ORPHA:101075X-linked Charcot-Marie-Tooth disease type 1HP:0040282 - Frequent107
HP:0007328HP:0007328Impaired pain sensation0GRIA3 CL E G H28924573ORPHA:364028X-linked intellectual disability due to GRIA3 mutations30
HP:0007328HP:0007328Impaired pain sensation0H19 CL E G H2831204713ORPHA:2128Isolated hemihyperplasiaHP:0040283 - Occasional4
HP:0007328HP:0007328Impaired pain sensation0HARS1 CL E G H30354816ORPHA:488333Autosomal dominant Charcot-Marie-Tooth disease type 2WHP:0040283 - Occasional
HP:0007328HP:0007328Impaired pain sensation0HDAC4 CL E G H975914063OMIM:600430Chromosome 2q37 deletion syndrome33
HP:0007328HP:0007328Impaired pain sensation0HERC2 CL E G H89244868OMIM:176270Prader-Willi syndrome38
HP:0007328HP:0007328Impaired pain sensation0HK1 CL E G H30984922ORPHA:99953Charcot-Marie-Tooth disease type 4GHP:0040283 - Occasional11
HP:0007328HP:0007328Impaired pain sensation0HNRNPK CL E G H31905044ORPHA:352665Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletionHP:0040283 - Occasional8
HP:0007328HP:0007328Impaired pain sensation0HNRNPK CL E G H31905044ORPHA:453504Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutationHP:0040283 - Occasional8
HP:0007328HP:0007328Impaired pain sensation0HSPB1 CL E G H33155246ORPHA:99940Autosomal dominant Charcot-Marie-Tooth disease type 2FHP:0040281 - Very frequent47
HP:0007328HP:0007328Impaired pain sensation0IARS2 CL E G H5569929685OMIM:616007Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia25
HP:0007328HP:0007328Impaired pain sensation0IGF2 CL E G H34815466ORPHA:2128Isolated hemihyperplasiaHP:0040283 - Occasional9
HP:0007328HP:0007328Impaired pain sensation0IPW CL E G H36536109OMIM:176270Prader-Willi syndrome
HP:0007328HP:0007328Impaired pain sensation0IQSEC2 CL E G H2309629059ORPHA:819Smith-Magenis syndromeHP:0040282 - Frequent119
HP:0007328HP:0007328Impaired pain sensation0JAG1 CL E G H1826188OMIM:619574CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2HH; CMT2HH257
HP:0007328HP:0007328Impaired pain sensation0KCNQ1OT1 CL E G H109846295ORPHA:2128Isolated hemihyperplasiaHP:0040283 - Occasional1
HP:0007328HP:0007328Impaired pain sensation0KDM5C CL E G H824211114OMIM:300534Mental retardation, X-linked, syndromic, Claes-Jensen type81
HP:0007328HP:0007328Impaired pain sensation0LIFR CL E G H39776597ORPHA:3206Stüve-Wiedemann syndromeHP:0040282 - Frequent144
HP:0007328HP:0007328Impaired pain sensation0LIFR CL E G H39776597OMIM:601559Stuve-Wiedemann syndrome.144
HP:0007328HP:0007328Impaired pain sensation0LMX1B CL E G H40106654ORPHA:2614Nail-patella syndromeHP:0040283 - Occasional165
HP:0007328HP:0007328Impaired pain sensation0MADD CL E G H85676766OMIM:619004DEEAH SYNDROME; DEEAH5
HP:0007328HP:0007328Impaired pain sensation0MADD CL E G H85676766OMIM:619005NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, IMPAIRED SPEECH, AND HYPOTONIA; NEDDISH5
HP:0007328HP:0007328Impaired pain sensation0MAGEL2 CL E G H545516814OMIM:176270Prader-Willi syndrome63
HP:0007328HP:0007328Impaired pain sensation0MCM3AP CL E G H88886946OMIM:618124Peripheral neuropathy, autosomal recessive, with or without impaired intellectual development3
HP:0007328HP:0007328Impaired pain sensation0MECP2 CL E G H42046990ORPHA:3095Atypical Rett syndromeHP:0040283 - Occasional950
HP:0007328HP:0007328Impaired pain sensation0MECP2 CL E G H42046990OMIM:300260Mental retardation, x-linked syndromic, Lubs type950
HP:0007328HP:0007328Impaired pain sensation0MFN2 CL E G H992716877ORPHA:99947Autosomal dominant Charcot-Marie-Tooth disease type 2A2HP:0040282 - Frequent203
HP:0007328HP:0007328Impaired pain sensation0MKRN3 CL E G H76817114OMIM:176270Prader-Willi syndrome5
HP:0007328HP:0007328Impaired pain sensation0MKRN3-AS1 CL E G H10108OMIM:176270Prader-Willi syndrome
HP:0007328HP:0007328Impaired pain sensation0MPV17 CL E G H43587224OMIM:256810Navajo neurohepatopathy56
HP:0007328HP:0007328Impaired pain sensation0MPZ CL E G H43597225ORPHA:3115Roussy-Lévy syndromeHP:0040282 - Frequent134
HP:0007328HP:0007328Impaired pain sensation0NEFL CL E G H47477739ORPHA:101085Charcot-Marie-Tooth disease type 1FHP:0040282 - Frequent118
HP:0007328HP:0007328Impaired pain sensation0NEFL CL E G H47477739OMIM:607684Charcot-Marie-Tooth disease, axonal, type 2E118
HP:0007328HP:0007328Impaired pain sensation0NGF CL E G H48037808ORPHA:64752Hereditary sensory and autonomic neuropathy type 520
HP:0007328HP:0007328Impaired pain sensation0NGF CL E G H48037808OMIM:608654Neuropathy, hereditary sensory and autonomic, type V.20
HP:0007328HP:0007328Impaired pain sensation0NGLY1 CL E G H5576817646OMIM:615273Congenital disorder of deglycosylation32
HP:0007328HP:0007328Impaired pain sensation0NPAP1 CL E G H237421190OMIM:176270Prader-Willi syndrome1
HP:0007328HP:0007328Impaired pain sensation0NTNG1 CL E G H2285423319ORPHA:3095Atypical Rett syndromeHP:0040283 - Occasional1
HP:0007328HP:0007328Impaired pain sensation0NTRK1 CL E G H49148031ORPHA:642Hereditary sensory and autonomic neuropathy type 497
HP:0007328HP:0007328Impaired pain sensation0NTRK1 CL E G H49148031ORPHA:64752Hereditary sensory and autonomic neuropathy type 597
HP:0007328HP:0007328Impaired pain sensation0NTRK1 CL E G H49148031OMIM:256800Insensitivity to pain, congenital, with anhidrosis97
HP:0007328HP:0007328Impaired pain sensation0PMP2 CL E G H53759117OMIM:618279Charcot-Marie-Tooth disease, demyelinating, type 1G1
HP:0007328HP:0007328Impaired pain sensation0PMP22 CL E G H53769118ORPHA:3115Roussy-Lévy syndromeHP:0040282 - Frequent79
HP:0007328HP:0007328Impaired pain sensation0PNPT1 CL E G H8717823166OMIM:608703Spinocerebellar ataxia 25.60
HP:0007328HP:0007328Impaired pain sensation0PNPT1 CL E G H8717823166ORPHA:101111Spinocerebellar ataxia type 25HP:0040282 - Frequent60
HP:0007328HP:0007328Impaired pain sensation0PRDM12 CL E G H5933513997OMIM:616488Neuropathy, hereditary sensory and autonomic, type VIII6
HP:0007328HP:0007328Impaired pain sensation0PRPS1 CL E G H56319462ORPHA:99014X-linked Charcot-Marie-Tooth disease type 5HP:0040282 - Frequent49
HP:0007328HP:0007328Impaired pain sensation0PWAR1 CL E G H14562430089OMIM:176270Prader-Willi syndrome
HP:0007328HP:0007328Impaired pain sensation0PWRN1 CL E G H79111433235OMIM:176270Prader-Willi syndrome
HP:0007328HP:0007328Impaired pain sensation0RAI1 CL E G H107439834ORPHA:819Smith-Magenis syndromeHP:0040282 - Frequent150
HP:0007328HP:0007328Impaired pain sensation0RAI1 CL E G H107439834OMIM:182290Smith-Magenis syndrome150
HP:0007328HP:0007328Impaired pain sensation0SCN11A CL E G H1128010583OMIM:615548Neuropathy, hereditary sensory and autonomic, type VII19
HP:0007328HP:0007328Impaired pain sensation0SCN9A CL E G H633510597OMIM:243000Indifference to pain, congenital, autosomal recessive318
HP:0007328HP:0007328Impaired pain sensation0SCN9A CL E G H633510597OMIM:167400Paroxysmal extreme pain disorder.318
HP:0007328HP:0007328Impaired pain sensation0SH3TC2 CL E G H7962829427ORPHA:99949Charcot-Marie-Tooth disease type 4CHP:0040283 - Occasional493
HP:0007328HP:0007328Impaired pain sensation0SHANK3 CL E G H8535814294ORPHA:48652Monosomy 22q13.3HP:0040281 - Very frequent53
HP:0007328HP:0007328Impaired pain sensation0SHANK3 CL E G H8535814294OMIM:606232Phelan-Mcdermid syndrome53
HP:0007328HP:0007328Impaired pain sensation0SMC1A CL E G H824311111ORPHA:3095Atypical Rett syndromeHP:0040283 - Occasional135
HP:0007328HP:0007328Impaired pain sensation0SNORD115-1 CL E G H33843333020OMIM:176270Prader-Willi syndrome
HP:0007328HP:0007328Impaired pain sensation0SNORD116-1 CL E G H10003341333067OMIM:176270Prader-Willi syndrome
HP:0007328HP:0007328Impaired pain sensation0SORD CL E G H665211184OMIM:618912SORBITOL DEHYDROGENASE DEFICIENCY WITH PERIPHERAL NEUROPATHY; SORDD
HP:0007328HP:0007328Impaired pain sensation0SPTLC1 CL E G H1055811277ORPHA:36386Hereditary sensory and autonomic neuropathy type 154
HP:0007328HP:0007328Impaired pain sensation0SPTLC2 CL E G H951711278ORPHA:36386Hereditary sensory and autonomic neuropathy type 1149
HP:0007328HP:0007328Impaired pain sensation0SPTLC2 CL E G H951711278OMIM:613640Neuropathy, hereditary sensory and autonomic, type IC149
HP:0007328HP:0007328Impaired pain sensation0TDP1 CL E G H5577518884ORPHA:94124Spinocerebellar ataxia with axonal neuropathy type 152
HP:0007328HP:0007328Impaired pain sensation0TMEM218 CL E G H21985427344OMIM:619562JOUBERT SYNDROME 39; JBTS39
HP:0007328HP:0007328Impaired pain sensation0TRIO CL E G H720412303OMIM:618825INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 63, WITH MACROCEPHALY; MRD638
HP:0007328HP:0007328Impaired pain sensation0TRIO CL E G H720412303OMIM:617061Mental retardation, autosomal dominant 448
HP:0007328HP:0007328Impaired pain sensation0UBTF CL E G H734312511ORPHA:500180Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorderHP:0040283 - Occasional1
HP:0007328HP:0007328Impaired pain sensation0VCP CL E G H741512666ORPHA:435387Autosomal dominant Charcot-Marie-Tooth disease type 2YHP:0040283 - Occasional63
HP:0007328HP:0007328Impaired pain sensation0ZEB2 CL E G H983914881ORPHA:261552Mowat-Wilson syndrome due to a ZEB2 point mutationHP:0040283 - Occasional362
HP:0007328HP:0007328Impaired pain sensation0ZEB2 CL E G H983914881ORPHA:261537Mowat-Wilson syndrome due to monosomy 2q22HP:0040283 - Occasional362
HP:0007328HP:0007328Impaired pain sensation0ZFHX2 CL E G H8544620152OMIM:147430Marsili syndrome
HP:0007328HP:0007021Pain insensitivity1ATL1 CL E G H5106211231ORPHA:36386Hereditary sensory and autonomic neuropathy type 1HP:0040282 - Frequent71
HP:0007328HP:0007021Pain insensitivity1ATL3 CL E G H2592324526ORPHA:36386Hereditary sensory and autonomic neuropathy type 1HP:0040282 - Frequent5
HP:0007328HP:0007021Pain insensitivity1CLTCL1 CL E G H82182093ORPHA:453510Congenital insensitivity to pain with severe intellectual disabilityHP:0040282 - Frequent6
HP:0007328HP:0007021Pain insensitivity1DDHD1 CL E G H8082119714ORPHA:101008Autosomal recessive spastic paraplegia type 28HP:0040282 - Frequent35
HP:0007328HP:0007021Pain insensitivity1DNM1L CL E G H100592973OMIM:614388Encephalopathy due to defective mitochondrial and peroxisomal fission 194
HP:0007328HP:0007021Pain insensitivity1EBF3 CL E G H25373819087OMIM:617330HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME; HADDS25
HP:0007328HP:0007021Pain insensitivity1GRIA3 CL E G H28924573ORPHA:364028X-linked intellectual disability due to GRIA3 mutationsHP:0040283 - Occasional30
HP:0007328HP:0007021Pain insensitivity1HDAC4 CL E G H975914063OMIM:600430Chromosome 2q37 deletion syndrome.33
HP:0007328HP:0007021Pain insensitivity1IARS2 CL E G H5569929685OMIM:616007Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia25
HP:0007328HP:0007021Pain insensitivity1KDM5C CL E G H824211114OMIM:300534Mental retardation, X-linked, syndromic, Claes-Jensen type81
HP:0007328HP:0007021Pain insensitivity1MECP2 CL E G H42046990OMIM:300260Mental retardation, x-linked syndromic, Lubs type950
HP:0007328HP:0007021Pain insensitivity1MPV17 CL E G H43587224OMIM:256810Navajo neurohepatopathy.56
HP:0007328HP:0007021Pain insensitivity1NGF CL E G H48037808ORPHA:64752Hereditary sensory and autonomic neuropathy type 5HP:0040282 - Frequent20
HP:0007328HP:0007021Pain insensitivity1NGF CL E G H48037808OMIM:608654Neuropathy, hereditary sensory and autonomic, type V20
HP:0007328HP:0007021Pain insensitivity1NGLY1 CL E G H5576817646OMIM:615273Congenital disorder of deglycosylation32
HP:0007328HP:0007021Pain insensitivity1NTRK1 CL E G H49148031ORPHA:642Hereditary sensory and autonomic neuropathy type 4HP:0040281 - Very frequent97
HP:0007328HP:0007021Pain insensitivity1NTRK1 CL E G H49148031ORPHA:64752Hereditary sensory and autonomic neuropathy type 5HP:0040282 - Frequent97
HP:0007328HP:0007021Pain insensitivity1NTRK1 CL E G H49148031OMIM:256800Insensitivity to pain, congenital, with anhidrosis.97
HP:0007328HP:0007021Pain insensitivity1PRDM12 CL E G H5933513997OMIM:616488Neuropathy, hereditary sensory and autonomic, type VIII6
HP:0007328HP:0007021Pain insensitivity1SCN11A CL E G H1128010583OMIM:615548Neuropathy, hereditary sensory and autonomic, type VII.19
HP:0007328HP:0007021Pain insensitivity1SCN9A CL E G H633510597OMIM:243000Indifference to pain, congenital, autosomal recessive.318
HP:0007328HP:0007021Pain insensitivity1SPTLC1 CL E G H1055811277ORPHA:36386Hereditary sensory and autonomic neuropathy type 1HP:0040282 - Frequent54
HP:0007328HP:0007021Pain insensitivity1SPTLC2 CL E G H951711278ORPHA:36386Hereditary sensory and autonomic neuropathy type 1HP:0040282 - Frequent149
HP:0007328HP:0007021Pain insensitivity1TDP1 CL E G H5577518884ORPHA:94124Spinocerebellar ataxia with axonal neuropathy type 1HP:0040282 - Frequent52
HP:0007328HP:0007021Pain insensitivity1TMEM218 CL E G H21985427344OMIM:619562JOUBERT SYNDROME 39; JBTS39
HP:0007328HP:0007021Pain insensitivity1TRIO CL E G H720412303OMIM:618825INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 63, WITH MACROCEPHALY; MRD638
HP:0007328HP:0007021Pain insensitivity1TRIO CL E G H720412303OMIM:617061Mental retardation, autosomal dominant 448
HP:0007328HP:0007021Pain insensitivity1ZFHX2 CL E G H8544620152OMIM:147430Marsili syndrome


Genes (76) :ABCA1 AIFM1 ATL1 ATL3 ATXN1 CCT5 CDKL5 CHAMP1 CLTCL1 DDHD1 DEAF1 DNM1L EBF3 ELP1 FBN1 FLII GABBR2 GDAP1 GJB1 GRIA3 H19 HARS1 HDAC4 HERC2 HK1 HNRNPK HSPB1 IARS2 IGF2 IPW IQSEC2 JAG1 KCNQ1OT1 KDM5C LIFR LMX1B MADD MAGEL2 MCM3AP MECP2 MFN2 MKRN3 MKRN3-AS1 MPV17 MPZ NEFL NGF NGLY1 NPAP1 NTNG1 NTRK1 PMP2 PMP22 PNPT1 PRDM12 PRPS1 PWAR1 PWRN1 RAI1 SCN11A SCN9A SH3TC2 SHANK3 SMC1A SNORD115-1 SNORD116-1 SORD SPTLC1 SPTLC2 TDP1 TMEM218 TRIO UBTF VCP ZEB2 ZFHX2

Diseases (71) :OMIM:205400 ORPHA:101078 ORPHA:36386 OMIM:164400 ORPHA:139578 ORPHA:3095 ORPHA:505652 OMIM:616579 ORPHA:453510 ORPHA:101008 ORPHA:819 OMIM:614388 OMIM:617330 ORPHA:1764 ORPHA:2833 ORPHA:101097 ORPHA:99948 OMIM:607706 ORPHA:101075 ORPHA:364028 ORPHA:2128 ORPHA:488333 OMIM:600430 OMIM:176270 ORPHA:99953 ORPHA:352665 ORPHA:453504 ORPHA:99940 OMIM:616007 OMIM:619574 OMIM:300534 ORPHA:3206 OMIM:601559 ORPHA:2614 OMIM:619004 OMIM:619005 OMIM:618124 OMIM:300260 ORPHA:99947 OMIM:256810 ORPHA:3115 ORPHA:101085 OMIM:607684 ORPHA:64752 OMIM:608654 OMIM:615273 ORPHA:642 OMIM:256800 OMIM:618279 OMIM:608703 ORPHA:101111 OMIM:616488 ORPHA:99014 OMIM:182290 OMIM:615548 OMIM:243000 OMIM:167400 ORPHA:99949 ORPHA:48652 OMIM:606232 OMIM:618912 OMIM:613640 ORPHA:94124 OMIM:619562 OMIM:618825 OMIM:617061 ORPHA:500180 ORPHA:435387 ORPHA:261552 ORPHA:261537 OMIM:147430
 

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