Human Phenotype Ontology 
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Abnormal reflex (HP:0031826)help
Parent Node:
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Hyperreflexia (HP:0001347)help
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Brisk reflexes (HP:0001348)help
Term ID: 1348
Name: Brisk reflexes
Synonym: Brisk deep tendon reflexes
Definition: Tendon reflexes that are noticeably more active than usual (conventionally denoted 3+ on clinical examination). Brisk reflexes may or may not indicate a neurological lesion. They are distinguished from hyperreflexia by the fact that hyerreflexia is characterized by hyperactive repeating (clonic) reflexes, which are considered to be always abnormal.
Comments:
Reference: HP:0001348
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandClonus (HP:0002169) help
..expandGeneralized hyperreflexia (HP:0007034) help
..expandHyperactive deep tendon reflexes (HP:0006801) help
..expandHyperreflexia in upper limbs (HP:0007350) help
..expandLower limb hyperreflexia (HP:0002395) 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:0001348HP:0001348Brisk reflexes0AASS CL E G H1015717366ORPHA:2203HyperlysinemiaHP:0040283 - Occasional15
HP:0001348HP:0001348Brisk reflexes0ADSL CL E G H158291OMIM:103050Adenylosuccinase deficiency.118
HP:0001348HP:0001348Brisk reflexes0ALDH18A1 CL E G H58329722ORPHA:90348Autosomal dominant cutis laxa89
HP:0001348HP:0001348Brisk reflexes0ALDH18A1 CL E G H58329722OMIM:616603Cutis laxa, autosomal dominant 3.89
HP:0001348HP:0001348Brisk reflexes0ALS2 CL E G H57679443ORPHA:300605Juvenile amyotrophic lateral sclerosisHP:0040282 - Frequent114
HP:0001348HP:0001348Brisk reflexes0ANO10 CL E G H5512925519ORPHA:284289Adult-onset autosomal recessive cerebellar ataxiaHP:0040282 - Frequent64
HP:0001348HP:0001348Brisk reflexes0ATG5 CL E G H9474589OMIM:617584Spinocerebellar ataxia, autosomal recessive 251
HP:0001348HP:0001348Brisk reflexes0ATP13A2 CL E G H2340030213OMIM:606693Kufor-Rakeb syndrome100
HP:0001348HP:0001348Brisk reflexes0BCAT2 CL E G H587977OMIM:618850HYPERVALINEMIA AND HYPERLEUCINE-ISOLEUCINEMIA; HVLI
HP:0001348HP:0001348Brisk reflexes0BSCL2 CL E G H2658015832ORPHA:363400Severe neurodegenerative syndrome with lipodystrophyHP:0040282 - Frequent105
HP:0001348HP:0001348Brisk reflexes0C19ORF12 CL E G H8363625443ORPHA:320370Autosomal recessive spastic paraplegia type 43HP:0040282 - Frequent114
HP:0001348HP:0001348Brisk reflexes0CADM3 CL E G H5786317601OMIM:619519CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2FF; CMT2FF1
HP:0001348HP:0001348Brisk reflexes0CAMTA1 CL E G H2326118806ORPHA:314647Non-progressive cerebellar ataxia with intellectual disabilityHP:0040284 - Very rare34
HP:0001348HP:0001348Brisk reflexes0CARS1 CL E G H8331493OMIM:618891MICROCEPHALY, DEVELOPMENTAL DELAY, AND BRITTLE HAIR SYNDROME; MDBH
HP:0001348HP:0001348Brisk reflexes0CDC40 CL E G H5136217350OMIM:619302PONTOCEREBELLAR HYPOPLASIA, TYPE 15; PCH15
HP:0001348HP:0001348Brisk reflexes0CHMP1A CL E G H51198740OMIM:614961Pontocerebellar hypoplasia, type 819
HP:0001348HP:0001348Brisk reflexes0CNP CL E G H12672158OMIM:619071LEUKODYSTROPHY, HYPOMYELINATING, 20; HLD20
HP:0001348HP:0001348Brisk reflexes0COG5 CL E G H1046614857ORPHA:263487COG5-CDGHP:0040283 - Occasional79
HP:0001348HP:0001348Brisk reflexes0COQ5 CL E G H8427428722OMIM:619028COENZYME Q10 DEFICIENCY, PRIMARY, 9; COQ10D9
HP:0001348HP:0001348Brisk reflexes0COQ8A CL E G H5699716812ORPHA:139485Autosomal recessive ataxia due to ubiquinone deficiencyHP:0040282 - Frequent136
HP:0001348HP:0001348Brisk reflexes0COX10 CL E G H13522260OMIM:619046MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 3; MC4DN382
HP:0001348HP:0001348Brisk reflexes0COX5A CL E G H93772267OMIM:619064MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 20; MC4DN20
HP:0001348HP:0001348Brisk reflexes0DARS1 CL E G H16152678OMIM:615281HYPOMYELINATION WITH BRAINSTEM AND SPINAL CORD INVOLVEMENT AND LEG SPASTICITY; HBSL
HP:0001348HP:0001348Brisk reflexes0DLAT CL E G H17372896OMIM:245348Pyruvate dehydrogenase E2 deficiency82
HP:0001348HP:0001348Brisk reflexes0ELN CL E G H20063327ORPHA:90348Autosomal dominant cutis laxa172
HP:0001348HP:0001348Brisk reflexes0ELOVL1 CL E G H6483414418OMIM:618527Ichthyotic keratoderma, spasticity, hypomyelination, and dysmorphic facial features
HP:0001348HP:0001348Brisk reflexes0ERCC1 CL E G H20673433OMIM:610758Cerebrooculofacioskeletal syndrome 420
HP:0001348HP:0001348Brisk reflexes0EXOSC9 CL E G H53939137OMIM:618065Pontocerebellar hypoplasia, type 1D
HP:0001348HP:0001348Brisk reflexes0FBLN5 CL E G H105163602ORPHA:90348Autosomal dominant cutis laxa63
HP:0001348HP:0001348Brisk reflexes0FTL CL E G H25123999ORPHA:157846NeuroferritinopathyHP:0040283 - Occasional33
HP:0001348HP:0001348Brisk reflexes0FUCA1 CL E G H25174006OMIM:230000FUCOSIDOSIS43
HP:0001348HP:0001348Brisk reflexes0FUS CL E G H25214010ORPHA:300605Juvenile amyotrophic lateral sclerosisHP:0040282 - Frequent105
HP:0001348HP:0001348Brisk reflexes0GBA2 CL E G H5770418986ORPHA:352641Autosomal recessive cerebellar ataxia with late-onset spasticityHP:0040282 - Frequent30
HP:0001348HP:0001348Brisk reflexes0GCH1 CL E G H26434193ORPHA:98808Autosomal dominant dopa-responsive dystoniaHP:0040282 - Frequent86
HP:0001348HP:0001348Brisk reflexes0GEMIN5 CL E G H2592920043OMIM:619333NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR ATROPHY AND MOTOR DYSFUNCTION; NEDCAM
HP:0001348HP:0001348Brisk reflexes0GLE1 CL E G H27334315OMIM:611890Congenital arthrogryposis with anterior horn cell disease.45
HP:0001348HP:0001348Brisk reflexes0GLYCTK CL E G H13215824247OMIM:220120D-GLYCERIC ACIDURIA6
HP:0001348HP:0001348Brisk reflexes0GNS CL E G H27994422OMIM:252940Mucopolysaccharidosis, type IIID69
HP:0001348HP:0001348Brisk reflexes0GRM1 CL E G H29114593OMIM:617691SPINOCEREBELLAR ATAXIA 44; SCA448
HP:0001348HP:0001348Brisk reflexes0GTPBP2 CL E G H546764670OMIM:617988Jaberi-Elahi syndrome
HP:0001348HP:0001348Brisk reflexes0H4C5 CL E G H83674790OMIM:619950
HP:0001348HP:0001348Brisk reflexes0HARS1 CL E G H30354816ORPHA:488333Autosomal dominant Charcot-Marie-Tooth disease type 2WHP:0040282 - Frequent
HP:0001348HP:0001348Brisk reflexes0IER3IP1 CL E G H5112418550OMIM:614231Microcephaly, epilepsy, and diabetes syndrome.6
HP:0001348HP:0001348Brisk reflexes0IMPDH2 CL E G H36156053ORPHA:98808Autosomal dominant dopa-responsive dystoniaHP:0040282 - Frequent1
HP:0001348HP:0001348Brisk reflexes0JAM2 CL E G H5849414686OMIM:618824BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 8, AUTOSOMAL RECESSIVE; IBGC8
HP:0001348HP:0001348Brisk reflexes0LETM1 CL E G H39546556OMIM:6200892
HP:0001348HP:0001348Brisk reflexes0LYRM7 CL E G H9062428072OMIM:615838Mitochondrial complex III deficiency, nuclear type 8.10
HP:0001348HP:0001348Brisk reflexes0MRPS25 CL E G H6443214511OMIM:619025COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 50; COXPD50
HP:0001348HP:0001348Brisk reflexes0MSTN CL E G H26604223OMIM:614160MUSCLE HYPERTROPHY; MSLHP34
HP:0001348HP:0001348Brisk reflexes0NDUFA4 CL E G H46977687OMIM:619065MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 21; MC4DN214
HP:0001348HP:0001348Brisk reflexes0NDUFS8 CL E G H47287715OMIM:618222Mitochondrial complex I deficiency, nuclear type 242
HP:0001348HP:0001348Brisk reflexes0NFIX CL E G H47847788OMIM:602535Marshall-Smith syndrome40
HP:0001348HP:0001348Brisk reflexes0NR4A2 CL E G H49297981ORPHA:98808Autosomal dominant dopa-responsive dystoniaHP:0040282 - Frequent27
HP:0001348HP:0001348Brisk reflexes0PAK3 CL E G H50638592OMIM:300558MENTAL RETARDATION, X-LINKED 30; MRX3027
HP:0001348HP:0001348Brisk reflexes0PARK7 CL E G H1131516369OMIM:606324PARKINSON DISEASE 7, AUTOSOMAL RECESSIVE EARLY-ONSET; PARK723
HP:0001348HP:0001348Brisk reflexes0PEX16 CL E G H94098857OMIM:614877Peroxisome biogenesis disorder 8B59
HP:0001348HP:0001348Brisk reflexes0PEX19 CL E G H58249713OMIM:614886Peroxisome biogenesis disorder 12A (Zellweger)62
HP:0001348HP:0001348Brisk reflexes0PIGA CL E G H52778957OMIM:300868Multiple congenital anomalies-hypotonia-seizures syndrome 246
HP:0001348HP:0001348Brisk reflexes0PIGA CL E G H52778957OMIM:301072NEURODEVELOPMENTAL DISORDER WITH EPILEPSY AND HEMOCHROMATOSIS; NEDEPH46
HP:0001348HP:0001348Brisk reflexes0PITRM1 CL E G H1053117663OMIM:619405SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 30; SCAR301
HP:0001348HP:0001348Brisk reflexes0PKDCC CL E G H9146125123OMIM:618821RHIZOMELIC LIMB SHORTENING WITH DYSMORPHIC FEATURES; RLSDF
HP:0001348HP:0001348Brisk reflexes0PLA2G6 CL E G H83989039OMIM:612953Parkinson disease 14, autosomal recessive133
HP:0001348HP:0001348Brisk reflexes0PMPCA CL E G H2320318667ORPHA:1170Autosomal recessive cerebelloparenchymal disorder type 3HP:0040282 - Frequent7
HP:0001348HP:0001348Brisk reflexes0POU4F1 CL E G H54579218ORPHA:314647Non-progressive cerebellar ataxia with intellectual disabilityHP:0040284 - Very rare
HP:0001348HP:0001348Brisk reflexes0PPIL1 CL E G H516459260OMIM:619301PONTOCEREBELLAR HYPOPLASIA, TYPE 14; PCH14
HP:0001348HP:0001348Brisk reflexes0PPP1R15B CL E G H8491914951OMIM:616817Microcephaly, short stature, and impaired glucose metabolism 22
HP:0001348HP:0001348Brisk reflexes0PPP1R15B CL E G H8491914951ORPHA:391408Primary microcephaly-mild intellectual disability-young-onset diabetes syndromeHP:0040283 - Occasional2
HP:0001348HP:0001348Brisk reflexes0PRR12 CL E G H5747929217OMIM:619539NEUROOCULAR SYNDROME; NOC1
HP:0001348HP:0001348Brisk reflexes0REEP1 CL E G H6505525786ORPHA:101011Autosomal dominant spastic paraplegia type 31HP:0040281 - Very frequent87
HP:0001348HP:0001348Brisk reflexes0RNF170 CL E G H8179025358OMIM:619686SPASTIC PARAPLEGIA 85, AUTOSOMAL RECESSIVE; SPG853
HP:0001348HP:0001348Brisk reflexes0SCN1A CL E G H632310585OMIM:619317DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 6B; DEE6B1053
HP:0001348HP:0001348Brisk reflexes0SET CL E G H641810760OMIM:618106Mental retardation, autosomal dominant 581
HP:0001348HP:0001348Brisk reflexes0SIGMAR1 CL E G H102808157ORPHA:300605Juvenile amyotrophic lateral sclerosisHP:0040282 - Frequent6
HP:0001348HP:0001348Brisk reflexes0SLC16A2 CL E G H656710923ORPHA:59Allan-Herndon-Dudley syndromeHP:0040283 - Occasional57
HP:0001348HP:0001348Brisk reflexes0SLC1A4 CL E G H650910942OMIM:616657Spastic tetraplegia, thin corpus callosum, and progressive microcephaly4
HP:0001348HP:0001348Brisk reflexes0SLC39A14 CL E G H2351620858OMIM:617013Hypermanganesemia with dystonia 25
HP:0001348HP:0001348Brisk reflexes0SLC6A5 CL E G H915211051OMIM:614618Hyperekplexia 381
HP:0001348HP:0001348Brisk reflexes0SMG9 CL E G H5600625763OMIM:6199952
HP:0001348HP:0001348Brisk reflexes0SPAST CL E G H668311233ORPHA:100985Autosomal dominant spastic paraplegia type 4HP:0040282 - Frequent208
HP:0001348HP:0001348Brisk reflexes0SPG11 CL E G H8020811226ORPHA:300605Juvenile amyotrophic lateral sclerosisHP:0040282 - Frequent287
HP:0001348HP:0001348Brisk reflexes0SPTBN1 CL E G H671111275OMIM:619475DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA
HP:0001348HP:0001348Brisk reflexes0SPTLC1 CL E G H1055811277ORPHA:300605Juvenile amyotrophic lateral sclerosisHP:0040282 - Frequent54
HP:0001348HP:0001348Brisk reflexes0SURF1 CL E G H683411474OMIM:220110Mitochondrial complex IV deficiency73
HP:0001348HP:0001348Brisk reflexes0TBCD CL E G H690411581OMIM:617193ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND THIN CORPUS CALLOSUM; PEBAT16
HP:0001348HP:0001348Brisk reflexes0TH CL E G H705411782ORPHA:101150Autosomal recessive dopa-responsive dystoniaHP:0040282 - Frequent80
HP:0001348HP:0001348Brisk reflexes0TMEM106B CL E G H5466422407OMIM:617964Leukodystrophy, hypomyelinating, 16
HP:0001348HP:0001348Brisk reflexes0TRMT10A CL E G H9358728403ORPHA:391408Primary microcephaly-mild intellectual disability-young-onset diabetes syndromeHP:0040283 - Occasional7
HP:0001348HP:0001348Brisk reflexes0TRNL1 CL E G H45677490ORPHA:663Mitochondrial DNA-related progressive external ophthalmoplegiaHP:0040282 - Frequent
HP:0001348HP:0001348Brisk reflexes0TRNL2 CL E G H45687491ORPHA:663Mitochondrial DNA-related progressive external ophthalmoplegiaHP:0040282 - Frequent
HP:0001348HP:0001348Brisk reflexes0TRNN CL E G H45707493OMIM:220110Mitochondrial complex IV deficiency
HP:0001348HP:0001348Brisk reflexes0TRNN CL E G H45707493ORPHA:663Mitochondrial DNA-related progressive external ophthalmoplegiaHP:0040282 - Frequent
HP:0001348HP:0001348Brisk reflexes0TRNS1 CL E G H45747497OMIM:220110Mitochondrial complex IV deficiency
HP:0001348HP:0001348Brisk reflexes0TRNS1 CL E G H45747497ORPHA:663Mitochondrial DNA-related progressive external ophthalmoplegiaHP:0040282 - Frequent
HP:0001348HP:0001348Brisk reflexes0TSPOAP1 CL E G H925616831ORPHA:101150Autosomal recessive dopa-responsive dystoniaHP:0040282 - Frequent2
HP:0001348HP:0001348Brisk reflexes0TUBGCP2 CL E G H1084418599OMIM:618737PACHYGYRIA, MICROCEPHALY, DEVELOPMENTAL DELAY, AND DYSMORPHIC FACIES, WITH OR WITHOUT SEIZURES; PAMDDFS
HP:0001348HP:0001348Brisk reflexes0VCP CL E G H741512666OMIM:613954Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia63
HP:0001348HP:0001348Brisk reflexes0VRK1 CL E G H744312718OMIM:607596Pontocerebellar hypoplasia type 1A32
HP:0001348HP:0001348Brisk reflexes0WDR4 CL E G H1078512756OMIM:618346Microcephaly, growth deficiency, seizures, and brain malformations
HP:0001348HP:0001348Brisk reflexes0WDR62 CL E G H28440324502OMIM:604317Microcephaly 2, primary, autosomal recessive, with or without cortical malformations224


Genes (94) :AASS ADSL ALDH18A1 ALS2 ANO10 ATG5 ATP13A2 BCAT2 BSCL2 C19ORF12 CADM3 CAMTA1 CARS1 CDC40 CHMP1A CNP COG5 COQ5 COQ8A COX10 COX5A DARS1 DLAT ELN ELOVL1 ERCC1 EXOSC9 FBLN5 FTL FUCA1 FUS GBA2 GCH1 GEMIN5 GLE1 GLYCTK GNS GRM1 GTPBP2 H4C5 HARS1 IER3IP1 IMPDH2 JAM2 LETM1 LYRM7 MRPS25 MSTN NDUFA4 NDUFS8 NFIX NR4A2 PAK3 PARK7 PEX16 PEX19 PIGA PITRM1 PKDCC PLA2G6 PMPCA POU4F1 PPIL1 PPP1R15B PRR12 REEP1 RNF170 SCN1A SET SIGMAR1 SLC16A2 SLC1A4 SLC39A14 SLC6A5 SMG9 SPAST SPG11 SPTBN1 SPTLC1 SURF1 TBCD TH TMEM106B TRMT10A TRNL1 TRNL2 TRNN TRNS1 TSPOAP1 TUBGCP2 VCP VRK1 WDR4 WDR62

Diseases (83) :ORPHA:2203 OMIM:103050 ORPHA:90348 OMIM:616603 ORPHA:300605 ORPHA:284289 OMIM:617584 OMIM:606693 OMIM:618850 ORPHA:363400 ORPHA:320370 OMIM:619519 ORPHA:314647 OMIM:618891 OMIM:619302 OMIM:614961 OMIM:619071 ORPHA:263487 OMIM:619028 ORPHA:139485 OMIM:619046 OMIM:619064 OMIM:615281 OMIM:245348 OMIM:618527 OMIM:610758 OMIM:618065 ORPHA:157846 OMIM:230000 ORPHA:352641 ORPHA:98808 OMIM:619333 OMIM:611890 OMIM:220120 OMIM:252940 OMIM:617691 OMIM:617988 OMIM:619950 ORPHA:488333 OMIM:614231 OMIM:618824 OMIM:620089 OMIM:615838 OMIM:619025 OMIM:614160 OMIM:619065 OMIM:618222 OMIM:602535 OMIM:300558 OMIM:606324 OMIM:614877 OMIM:614886 OMIM:300868 OMIM:301072 OMIM:619405 OMIM:618821 OMIM:612953 ORPHA:1170 OMIM:619301 OMIM:616817 ORPHA:391408 OMIM:619539 ORPHA:101011 OMIM:619686 OMIM:619317 OMIM:618106 ORPHA:59 OMIM:616657 OMIM:617013 OMIM:614618 OMIM:619995 ORPHA:100985 OMIM:619475 OMIM:220110 OMIM:617193 ORPHA:101150 OMIM:617964 ORPHA:663 OMIM:618737 OMIM:613954 OMIM:607596 OMIM:618346 OMIM:604317
 

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