Human Phenotype Ontology 
Grandparent Node:
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Abnormal reflex (HP:0031826)help
Parent Node:
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Hyperreflexia (HP:0001347)help
..Starting node
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Hyperactive deep tendon reflexes (HP:0006801)help
Term ID: 6801
Name: Hyperactive deep tendon reflexes
Synonym:
Definition:
Comments:
Reference: HP:0006801
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandBrisk reflexes (HP:0001348) help
..expandClonus (HP:0002169) help
..expandGeneralized hyperreflexia (HP:0007034) 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:0006801HP:0006801Hyperactive deep tendon reflexes0ATP6AP2 CL E G H1015918305ORPHA:363654X-linked parkinsonism-spasticity syndromeHP:0040282 - Frequent36
HP:0006801HP:0006801Hyperactive deep tendon reflexes0ATXN1 CL E G H631010548ORPHA:98755Spinocerebellar ataxia type 1HP:0040283 - Occasional19
HP:0006801HP:0006801Hyperactive deep tendon reflexes0ATXN2 CL E G H631110555ORPHA:98756Spinocerebellar ataxia type 2HP:0040283 - Occasional11
HP:0006801HP:0006801Hyperactive deep tendon reflexes0BEAN1 CL E G H14622724160ORPHA:217012Spinocerebellar ataxia type 31HP:0040283 - Occasional1
HP:0006801HP:0006801Hyperactive deep tendon reflexes0C19ORF12 CL E G H8363625443ORPHA:289560Mitochondrial membrane protein-associated neurodegenerationHP:0040282 - Frequent114
HP:0006801HP:0006801Hyperactive deep tendon reflexes0DNM1L CL E G H100592973ORPHA:330050DNM1L-related encephalopathy due to mitochondrial and peroxisomal fission defectHP:0040283 - Occasional94
HP:0006801HP:0006801Hyperactive deep tendon reflexes0GALC CL E G H25814115ORPHA:206448Adult Krabbe diseaseHP:0040282 - Frequent160
HP:0006801HP:0006801Hyperactive deep tendon reflexes0GALC CL E G H25814115OMIM:245200Krabbe disease.160
HP:0006801HP:0006801Hyperactive deep tendon reflexes0GJA1 CL E G H26974274OMIM:164200Oculodentodigital dysplasia.68
HP:0006801HP:0006801Hyperactive deep tendon reflexes0KCNC3 CL E G H37486235ORPHA:98768Spinocerebellar ataxia type 13HP:0040283 - Occasional17
HP:0006801HP:0006801Hyperactive deep tendon reflexes0MAB21L1 CL E G H40816757OMIM:618479Cerebellar, ocular, craniofacial, and genital syndrome.
HP:0006801HP:0006801Hyperactive deep tendon reflexes0MECP2 CL E G H42046990ORPHA:3077X-linked intellectual disability-psychosis-macroorchidism syndromeHP:0040281 - Very frequent950
HP:0006801HP:0006801Hyperactive deep tendon reflexes0MRE11 CL E G H43617230ORPHA:251347Ataxia-telangiectasia-like disorderHP:0040283 - Occasional532
HP:0006801HP:0006801Hyperactive deep tendon reflexes0OFD1 CL E G H84812567OMIM:300209Simpson-golabi-behmel syndrome, type 2.201
HP:0006801HP:0006801Hyperactive deep tendon reflexes0PMP22 CL E G H53769118ORPHA:101081Charcot-Marie-Tooth disease type 1AHP:0040284 - Very rare79
HP:0006801HP:0006801Hyperactive deep tendon reflexes0PRNP CL E G H56219449ORPHA:157941Huntington disease-like 1HP:0040283 - Occasional69
HP:0006801HP:0006801Hyperactive deep tendon reflexes0PRPS1 CL E G H56319462ORPHA:423479X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndromeHP:0040282 - Frequent49
HP:0006801HP:0006801Hyperactive deep tendon reflexes0PRRT2 CL E G H11247630500ORPHA:98811Paroxysmal exertion-induced dyskinesiaHP:0040282 - Frequent94
HP:0006801HP:0006801Hyperactive deep tendon reflexes0PRSS12 CL E G H84929477OMIM:249500Mental retardation, autosomal recessive 1.73
HP:0006801HP:0006801Hyperactive deep tendon reflexes0SAMD9L CL E G H2192851349OMIM:159550Ataxia-Pancytopenia syndrome.4
HP:0006801HP:0006801Hyperactive deep tendon reflexes0SDHA CL E G H638910680ORPHA:3208Isolated succinate-CoQ reductase deficiencyHP:0040282 - Frequent304
HP:0006801HP:0006801Hyperactive deep tendon reflexes0SDHAF1 CL E G H64409633867ORPHA:3208Isolated succinate-CoQ reductase deficiencyHP:0040282 - Frequent16
HP:0006801HP:0006801Hyperactive deep tendon reflexes0SDHB CL E G H639010681ORPHA:3208Isolated succinate-CoQ reductase deficiencyHP:0040282 - Frequent237
HP:0006801HP:0006801Hyperactive deep tendon reflexes0SDHD CL E G H639210683ORPHA:3208Isolated succinate-CoQ reductase deficiencyHP:0040282 - Frequent129
HP:0006801HP:0006801Hyperactive deep tendon reflexes0SLC2A1 CL E G H651311005ORPHA:98811Paroxysmal exertion-induced dyskinesiaHP:0040282 - Frequent255
HP:0006801HP:0006801Hyperactive deep tendon reflexes0SMG9 CL E G H5600625763OMIM:616920Heart and brain malformation syndrome2
HP:0006801HP:0006801Hyperactive deep tendon reflexes0STUB1 CL E G H1027311427ORPHA:412057Autosomal recessive cerebellar ataxia due to STUB1 deficiencyHP:0040283 - Occasional14
HP:0006801HP:0006801Hyperactive deep tendon reflexes0TANGO2 CL E G H12898925439OMIM:616878Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration.12
HP:0006801HP:0006801Hyperactive deep tendon reflexes0TIMM8A CL E G H167811817ORPHA:52368Mohr-Tranebjaerg syndromeHP:0040282 - Frequent15
HP:0006801HP:0006801Hyperactive deep tendon reflexes0UROC1 CL E G H13166926444ORPHA:210128Urocanic aciduriaHP:0040281 - Very frequent8


Genes (29) :ATP6AP2 ATXN1 ATXN2 BEAN1 C19ORF12 DNM1L GALC GJA1 KCNC3 MAB21L1 MECP2 MRE11 OFD1 PMP22 PRNP PRPS1 PRRT2 PRSS12 SAMD9L SDHA SDHAF1 SDHB SDHD SLC2A1 SMG9 STUB1 TANGO2 TIMM8A UROC1

Diseases (26) :ORPHA:363654 ORPHA:98755 ORPHA:98756 ORPHA:217012 ORPHA:289560 ORPHA:330050 ORPHA:206448 OMIM:245200 OMIM:164200 ORPHA:98768 OMIM:618479 ORPHA:3077 ORPHA:251347 OMIM:300209 ORPHA:101081 ORPHA:157941 ORPHA:423479 ORPHA:98811 OMIM:249500 OMIM:159550 ORPHA:3208 OMIM:616920 ORPHA:412057 OMIM:616878 ORPHA:52368 ORPHA:210128
 

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