Human Phenotype Ontology 
Grandparent Node:
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Abnormal reflex (HP:0031826)help
Parent Node:
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Hyperreflexia (HP:0001347)help
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Lower limb hyperreflexia (HP:0002395)help
Term ID: 2395
Name: Lower limb hyperreflexia
Synonym: Brisk lower extremity reflexes; Hyperreflexia in lower limbs; Hyperreflexia in the lower limbs; Increased deep tendon reflexes in the lower limbs; Leg hyperreflexia; Overactive lower leg reflex
Definition:
Comments:
Reference: HP:0002395
Genes and Diseases:
 
       Child Nodes:
........expandHyperactive patellar reflex (HP:0007083) help

 Sister Nodes: 
..expandBrisk reflexes (HP:0001348) help
..expandClonus (HP:0002169) help
..expandGeneralized hyperreflexia (HP:0007034) help
..expandHyperactive deep tendon reflexes (HP:0006801) help
..expandHyperreflexia in upper limbs (HP:0007350) help
..expandProximal hyperreflexia (HP:0007054) 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:0002395HP:0002395Lower limb hyperreflexia0ABCC9 CL E G H1006060OMIM:619719INTELLECTUAL DISABILITY AND MYOPATHY SYNDROME; IDMYS254
HP:0002395HP:0002395Lower limb hyperreflexia0AFG3L2 CL E G H10939315OMIM:610246Spinocerebellar ataxia 28.86
HP:0002395HP:0002395Lower limb hyperreflexia0AFG3L2 CL E G H10939315ORPHA:101109Spinocerebellar ataxia type 28HP:0040281 - Very frequent86
HP:0002395HP:0002395Lower limb hyperreflexia0ALDH18A1 CL E G H58329722ORPHA:447753Autosomal dominant spastic paraplegia type 9AHP:0040281 - Very frequent89
HP:0002395HP:0002395Lower limb hyperreflexia0ALDH18A1 CL E G H58329722ORPHA:447757Autosomal dominant spastic paraplegia type 9B89
HP:0002395HP:0002395Lower limb hyperreflexia0ALDH18A1 CL E G H58329722ORPHA:447760Autosomal recessive spastic paraplegia type 9BHP:0040281 - Very frequent89
HP:0002395HP:0002395Lower limb hyperreflexia0ALDH18A1 CL E G H58329722OMIM:601162Spastic paraplegia 9A, autosomal dominant89
HP:0002395HP:0002395Lower limb hyperreflexia0APOE CL E G H348613OMIM:607822Alzheimer disease 3.39
HP:0002395HP:0002395Lower limb hyperreflexia0ARL6IP1 CL E G H23204697ORPHA:401780Autosomal recessive spastic paraplegia type 611
HP:0002395HP:0002395Lower limb hyperreflexia0ARL6IP1 CL E G H23204697OMIM:615685Spastic paraplegia 61, autosomal recessive1
HP:0002395HP:0002395Lower limb hyperreflexia0ATL1 CL E G H5106211231ORPHA:100984Autosomal dominant spastic paraplegia type 3HP:0040281 - Very frequent71
HP:0002395HP:0002395Lower limb hyperreflexia0ATP13A2 CL E G H2340030213ORPHA:306674Kufor-Rakeb syndromeHP:0040281 - Very frequent100
HP:0002395HP:0002395Lower limb hyperreflexia0C19ORF12 CL E G H8363625443ORPHA:320370Autosomal recessive spastic paraplegia type 43114
HP:0002395HP:0002395Lower limb hyperreflexia0CAPN1 CL E G H8231476ORPHA:488594Autosomal recessive spastic paraplegia type 76HP:0040281 - Very frequent4
HP:0002395HP:0002395Lower limb hyperreflexia0CAPN1 CL E G H8231476OMIM:616907SPASTIC PARAPLEGIA 76, AUTOSOMAL RECESSIVE; SPG764
HP:0002395HP:0002395Lower limb hyperreflexia0CLDN11 CL E G H50108514OMIM:619328Leukodystrophy, hypomyelinating, 22
HP:0002395HP:0002395Lower limb hyperreflexia0COX4I1 CL E G H13272265OMIM:619060MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 16; MC4DN16
HP:0002395HP:0002395Lower limb hyperreflexia0CYP2U1 CL E G H11361220582ORPHA:320411Autosomal recessive spastic paraplegia type 56HP:0040281 - Very frequent18
HP:0002395HP:0002395Lower limb hyperreflexia0CYP2U1 CL E G H11361220582OMIM:615030Spastic paraplegia 56, autosomal recessive.18
HP:0002395HP:0002395Lower limb hyperreflexia0DKK1 CL E G H229432891ORPHA:268882Arnold-Chiari malformation type IHP:0040282 - Frequent
HP:0002395HP:0002395Lower limb hyperreflexia0DLAT CL E G H17372896ORPHA:79244Pyruvate dehydrogenase E2 deficiencyHP:0040282 - Frequent82
HP:0002395HP:0002395Lower limb hyperreflexia0DPM1 CL E G H88133005OMIM:608799Congenital disorder of glycosylation, type IE.27
HP:0002395HP:0002395Lower limb hyperreflexia0FAR1 CL E G H8418826222ORPHA:447753Autosomal dominant spastic paraplegia type 9AHP:0040281 - Very frequent7
HP:0002395HP:0002395Lower limb hyperreflexia0FARS2 CL E G H1066721062ORPHA:466722Autosomal recessive spastic paraplegia type 77HP:0040282 - Frequent36
HP:0002395HP:0002395Lower limb hyperreflexia0FTL CL E G H25123999ORPHA:157846NeuroferritinopathyHP:0040283 - Occasional33
HP:0002395HP:0002395Lower limb hyperreflexia0GCH1 CL E G H26434193ORPHA:98808Autosomal dominant dopa-responsive dystoniaHP:0040282 - Frequent86
HP:0002395HP:0002395Lower limb hyperreflexia0GJB1 CL E G H27054283OMIM:302800Charcot-Marie-Tooth neuropathy, X-linked dominant, 1HP:0040283 - Occasional107
HP:0002395HP:0002395Lower limb hyperreflexia0GJB1 CL E G H27054283ORPHA:1175X-linked progressive cerebellar ataxiaHP:0040283 - Occasional107
HP:0002395HP:0002395Lower limb hyperreflexia0GLUL CL E G H27524341OMIM:610015GLUTAMINE DEFICIENCY, CONGENITAL98
HP:0002395HP:0002395Lower limb hyperreflexia0HARS1 CL E G H30354816OMIM:616625Charcot-Marie-Tooth disease, axonal, type 2W
HP:0002395HP:0002395Lower limb hyperreflexia0HEXB CL E G H30744879ORPHA:309155Sandhoff disease, infantile form80
HP:0002395HP:0002395Lower limb hyperreflexia0HPDL CL E G H8484228242OMIM:619027SPASTIC PARAPLEGIA 83, AUTOSOMAL RECESSIVE; SPG83
HP:0002395HP:0002395Lower limb hyperreflexia0IBA57 CL E G H20020527302ORPHA:468661Autosomal recessive spastic paraplegia type 7416
HP:0002395HP:0002395Lower limb hyperreflexia0IFRD1 CL E G H34755456ORPHA:98771Spinocerebellar ataxia type 18HP:0040282 - Frequent1
HP:0002395HP:0002395Lower limb hyperreflexia0IMPDH2 CL E G H36156053ORPHA:98808Autosomal dominant dopa-responsive dystoniaHP:0040282 - Frequent1
HP:0002395HP:0002395Lower limb hyperreflexia0KDM5C CL E G H824211114OMIM:300534Mental retardation, X-linked, syndromic, Claes-Jensen type.81
HP:0002395HP:0002395Lower limb hyperreflexia0KIF1A CL E G H547888ORPHA:101010Autosomal spastic paraplegia type 30HP:0040281 - Very frequent276
HP:0002395HP:0002395Lower limb hyperreflexia0KIF1C CL E G H107496317ORPHA:397946Autosomal spastic paraplegia type 58HP:0040281 - Very frequent38
HP:0002395HP:0002395Lower limb hyperreflexia0KIF5A CL E G H37986323ORPHA:100991Autosomal dominant spastic paraplegia type 10HP:0040281 - Very frequent93
HP:0002395HP:0002395Lower limb hyperreflexia0KY CL E G H33985526576ORPHA:496689Kyphoscoliosis-lateral tongue atrophy-hereditary spastic paraplegia syndromeHP:0040282 - Frequent3
HP:0002395HP:0002395Lower limb hyperreflexia0LARGE1 CL E G H92156511OMIM:608840MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 6.136
HP:0002395HP:0002395Lower limb hyperreflexia0LBR CL E G H39306518OMIM:169400Pelger-Huet anomaly70
HP:0002395HP:0002395Lower limb hyperreflexia0LYRM4 CL E G H5712821365OMIM:615595Combined oxidative phosphorylation deficiency 194
HP:0002395HP:0002395Lower limb hyperreflexia0MECP2 CL E G H42046990ORPHA:3077X-linked intellectual disability-psychosis-macroorchidism syndromeHP:0040282 - Frequent950
HP:0002395HP:0002395Lower limb hyperreflexia0MKS1 CL E G H549037121OMIM:617121JOUBERT SYNDROME 28; JBTS28127
HP:0002395HP:0002395Lower limb hyperreflexia0MSL3 CL E G H109437370OMIM:301032BASILICATA-AKHTAR SYNDROME; MRXSBA
HP:0002395HP:0002395Lower limb hyperreflexia0MTRFR CL E G H9157426784ORPHA:254930Combined oxidative phosphorylation defect type 7HP:0040282 - Frequent
HP:0002395HP:0002395Lower limb hyperreflexia0NIPA1 CL E G H12360617043ORPHA:100988Autosomal dominant spastic paraplegia type 6HP:0040281 - Very frequent117
HP:0002395HP:0002395Lower limb hyperreflexia0NONO CL E G H48417871ORPHA:466791Macrocephaly-intellectual disability-left ventricular non compaction syndrome10
HP:0002395HP:0002395Lower limb hyperreflexia0NR4A2 CL E G H49297981ORPHA:98808Autosomal dominant dopa-responsive dystoniaHP:0040282 - Frequent27
HP:0002395HP:0002395Lower limb hyperreflexia0OCA2 CL E G H49488101ORPHA:98794Angelman syndrome due to maternal 15q11q13 deletionHP:0040282 - Frequent121
HP:0002395HP:0002395Lower limb hyperreflexia0PDE8B CL E G H86228794OMIM:609161Striatal degeneration, autosomal dominant.75
HP:0002395HP:0002395Lower limb hyperreflexia0PGM3 CL E G H52388907ORPHA:443811PGM3-CDG15
HP:0002395HP:0002395Lower limb hyperreflexia0PLXNA1 CL E G H53619099OMIM:619955
HP:0002395HP:0002395Lower limb hyperreflexia0PSEN1 CL E G H56639508OMIM:607822Alzheimer disease 3.241
HP:0002395HP:0002395Lower limb hyperreflexia0REEP1 CL E G H6505525786ORPHA:101011Autosomal dominant spastic paraplegia type 31HP:0040282 - Frequent87
HP:0002395HP:0002395Lower limb hyperreflexia0RUBCN CL E G H971128991OMIM:615705SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 15; SCAR159
HP:0002395HP:0002395Lower limb hyperreflexia0SACS CL E G H2627810519OMIM:270550Spastic ataxia, Charlevoix-Saguenay type309
HP:0002395HP:0002395Lower limb hyperreflexia0SDHA CL E G H638910680ORPHA:3208Isolated succinate-CoQ reductase deficiency304
HP:0002395HP:0002395Lower limb hyperreflexia0SDHAF1 CL E G H64409633867ORPHA:3208Isolated succinate-CoQ reductase deficiency16
HP:0002395HP:0002395Lower limb hyperreflexia0SDHB CL E G H639010681ORPHA:3208Isolated succinate-CoQ reductase deficiency237
HP:0002395HP:0002395Lower limb hyperreflexia0SDHD CL E G H639210683ORPHA:3208Isolated succinate-CoQ reductase deficiency129
HP:0002395HP:0002395Lower limb hyperreflexia0SELENOI CL E G H8546529361ORPHA:506353Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunctionHP:0040280 - Obligate
HP:0002395HP:0002395Lower limb hyperreflexia0SLC33A1 CL E G H919795OMIM:612539Spastic paraplegia 42, autosomal dominant.48
HP:0002395HP:0002395Lower limb hyperreflexia0SPG7 CL E G H668711237ORPHA:99013Spastic paraplegia type 7HP:0040282 - Frequent171
HP:0002395HP:0002395Lower limb hyperreflexia0ST3GAL5 CL E G H886910872OMIM:609056Salt and pepper developmental regression syndrome.47
HP:0002395HP:0002395Lower limb hyperreflexia0SUMF1 CL E G H28536220376OMIM:272200Multiple sulfatase deficiency.80
HP:0002395HP:0002395Lower limb hyperreflexia0TAF1 CL E G H687211535ORPHA:480907X-linked intellectual disability-global development delay-facial dysmorphism-sacral caudal remnant syndromeHP:0040283 - Occasional21
HP:0002395HP:0002395Lower limb hyperreflexia0TH CL E G H705411782ORPHA:101150Autosomal recessive dopa-responsive dystoniaHP:0040282 - Frequent80
HP:0002395HP:0002395Lower limb hyperreflexia0TMEM63C CL E G H5715623787OMIM:619966
HP:0002395HP:0002395Lower limb hyperreflexia0TNR CL E G H714311953OMIM:619653NEURODEVELOPMENTAL DISORDER, NONPROGRESSIVE, WITH SPASTICITY AND TRANSIENT OPISTHOTONUS; NEDSTO7
HP:0002395HP:0002395Lower limb hyperreflexia0TREX1 CL E G H1127712269OMIM:192315Vasculopathy, retinal, with cerebral leukodystrophy.56
HP:0002395HP:0002395Lower limb hyperreflexia0TRNE CL E G H45567479ORPHA:2596Myopathy and diabetes mellitusHP:0040282 - Frequent
HP:0002395HP:0002395Lower limb hyperreflexia0TRRAP CL E G H829512347OMIM:618454Developmental delay with or without dysmorphic facies and autism2
HP:0002395HP:0002395Lower limb hyperreflexia0TSPOAP1 CL E G H925616831ORPHA:101150Autosomal recessive dopa-responsive dystoniaHP:0040282 - Frequent2
HP:0002395HP:0002395Lower limb hyperreflexia0UBAP1 CL E G H5127112461OMIM:618418Spastic paraplegia 80, autosomal dominant
HP:0002395HP:0002395Lower limb hyperreflexia0UBE3A CL E G H733712496ORPHA:411511Angelman syndrome due to a point mutationHP:0040282 - Frequent278
HP:0002395HP:0002395Lower limb hyperreflexia0UBE3A CL E G H733712496ORPHA:98794Angelman syndrome due to maternal 15q11q13 deletionHP:0040282 - Frequent278
HP:0002395HP:0002395Lower limb hyperreflexia0UBE3A CL E G H733712496ORPHA:98795Angelman syndrome due to paternal uniparental disomy of chromosome 15HP:0040282 - Frequent278
HP:0002395HP:0002395Lower limb hyperreflexia0USP8 CL E G H910112631ORPHA:401795Autosomal recessive spastic paraplegia type 59HP:0040282 - Frequent7
HP:0002395HP:0002395Lower limb hyperreflexia0VCP CL E G H741512666ORPHA:329475Spastic paraplegia-Paget disease of bone syndromeHP:0040280 - Obligate63
HP:0002395HP:0002395Lower limb hyperreflexia0VPS11 CL E G H5582314583OMIM:619637DYSTONIA 32; DYT321
HP:0002395HP:0002395Lower limb hyperreflexia0ZFYVE26 CL E G H2350320761ORPHA:100996Autosomal recessive spastic paraplegia type 15HP:0040282 - Frequent189
HP:0002395HP:0033206Hyperactive Achilles reflex1 CL E G H
HP:0002395HP:0007083Hyperactive patellar reflex1ALDH18A1 CL E G H58329722ORPHA:447757Autosomal dominant spastic paraplegia type 9BHP:0040282 - Frequent89
HP:0002395HP:0007083Hyperactive patellar reflex1ARL6IP1 CL E G H23204697ORPHA:401780Autosomal recessive spastic paraplegia type 61HP:0040282 - Frequent1
HP:0002395HP:0007083Hyperactive patellar reflex1ARL6IP1 CL E G H23204697OMIM:615685Spastic paraplegia 61, autosomal recessive.1
HP:0002395HP:0007083Hyperactive patellar reflex1ATP13A2 CL E G H2340030213ORPHA:306674Kufor-Rakeb syndromeHP:0040283 - Occasional100
HP:0002395HP:0007083Hyperactive patellar reflex1C19ORF12 CL E G H8363625443ORPHA:320370Autosomal recessive spastic paraplegia type 43HP:0040282 - Frequent114
HP:0002395HP:0007083Hyperactive patellar reflex1COX4I1 CL E G H13272265OMIM:619060MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 16; MC4DN16
HP:0002395HP:0007083Hyperactive patellar reflex1HARS1 CL E G H30354816OMIM:616625Charcot-Marie-Tooth disease, axonal, type 2W
HP:0002395HP:0007083Hyperactive patellar reflex1HEXB CL E G H30744879ORPHA:309155Sandhoff disease, infantile form80
HP:0002395HP:0007083Hyperactive patellar reflex1IBA57 CL E G H20020527302ORPHA:468661Autosomal recessive spastic paraplegia type 74HP:0040282 - Frequent16
HP:0002395HP:0007083Hyperactive patellar reflex1NONO CL E G H48417871ORPHA:466791Macrocephaly-intellectual disability-left ventricular non compaction syndromeHP:0040283 - Occasional10
HP:0002395HP:0007083Hyperactive patellar reflex1PGM3 CL E G H52388907ORPHA:443811PGM3-CDGHP:0040283 - Occasional15
HP:0002395HP:0007083Hyperactive patellar reflex1SACS CL E G H2627810519OMIM:270550Spastic ataxia, Charlevoix-Saguenay type309
HP:0002395HP:0007083Hyperactive patellar reflex1SDHA CL E G H638910680ORPHA:3208Isolated succinate-CoQ reductase deficiencyHP:0040282 - Frequent304
HP:0002395HP:0007083Hyperactive patellar reflex1SDHAF1 CL E G H64409633867ORPHA:3208Isolated succinate-CoQ reductase deficiencyHP:0040282 - Frequent16
HP:0002395HP:0007083Hyperactive patellar reflex1SDHB CL E G H639010681ORPHA:3208Isolated succinate-CoQ reductase deficiencyHP:0040282 - Frequent237
HP:0002395HP:0007083Hyperactive patellar reflex1SDHD CL E G H639210683ORPHA:3208Isolated succinate-CoQ reductase deficiencyHP:0040282 - Frequent129


Genes (73) :ABCC9 AFG3L2 ALDH18A1 APOE ARL6IP1 ATL1 ATP13A2 C19ORF12 CAPN1 CLDN11 COX4I1 CYP2U1 DKK1 DLAT DPM1 FAR1 FARS2 FTL GCH1 GJB1 GLUL HARS1 HEXB HPDL IBA57 IFRD1 IMPDH2 KDM5C KIF1A KIF1C KIF5A KY LARGE1 LBR LYRM4 MECP2 MKS1 MSL3 MTRFR NIPA1 NONO NR4A2 OCA2 PDE8B PGM3 PLXNA1 PSEN1 REEP1 RUBCN SACS SDHA SDHAF1 SDHB SDHD SELENOI SLC33A1 SPG7 ST3GAL5 SUMF1 TAF1 TH TMEM63C TNR TREX1 TRNE TRRAP TSPOAP1 UBAP1 UBE3A USP8 VCP VPS11 ZFYVE26

Diseases (74) :OMIM:619719 OMIM:610246 ORPHA:101109 ORPHA:447753 ORPHA:447757 ORPHA:447760 OMIM:601162 OMIM:607822 ORPHA:401780 OMIM:615685 ORPHA:100984 ORPHA:306674 ORPHA:320370 ORPHA:488594 OMIM:616907 OMIM:619328 OMIM:619060 ORPHA:320411 OMIM:615030 ORPHA:268882 ORPHA:79244 OMIM:608799 ORPHA:466722 ORPHA:157846 ORPHA:98808 OMIM:302800 ORPHA:1175 OMIM:610015 OMIM:616625 ORPHA:309155 OMIM:619027 ORPHA:468661 ORPHA:98771 OMIM:300534 ORPHA:101010 ORPHA:397946 ORPHA:100991 ORPHA:496689 OMIM:608840 OMIM:169400 OMIM:615595 ORPHA:3077 OMIM:617121 OMIM:301032 ORPHA:254930 ORPHA:100988 ORPHA:466791 ORPHA:98794 OMIM:609161 ORPHA:443811 OMIM:619955 ORPHA:101011 OMIM:615705 OMIM:270550 ORPHA:3208 ORPHA:506353 OMIM:612539 ORPHA:99013 OMIM:609056 OMIM:272200 ORPHA:480907 ORPHA:101150 OMIM:619966 OMIM:619653 OMIM:192315 ORPHA:2596 OMIM:618454 OMIM:618418 ORPHA:411511 ORPHA:98795 ORPHA:401795 ORPHA:329475 OMIM:619637 ORPHA:100996
 

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