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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Hyperreflexia in upper limbs (HP:0007350)help
Term ID: 7350
Name: Hyperreflexia in upper limbs
Synonym:
Definition:
Comments:
Reference: HP:0007350
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandBrisk reflexes (HP:0001348) help
..expandClonus (HP:0002169) help
..expandGeneralized hyperreflexia (HP:0007034) help
..expandHyperactive deep tendon reflexes (HP:0006801) 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:0007350HP:0007350Hyperreflexia in upper limbs0ABCC9 CL E G H1006060OMIM:619719INTELLECTUAL DISABILITY AND MYOPATHY SYNDROME; IDMYS254
HP:0007350HP:0007350Hyperreflexia in upper limbs0ALDH18A1 CL E G H58329722ORPHA:447753Autosomal dominant spastic paraplegia type 9AHP:0040281 - Very frequent89
HP:0007350HP:0007350Hyperreflexia in upper limbs0ALDH18A1 CL E G H58329722ORPHA:447757Autosomal dominant spastic paraplegia type 9BHP:0040282 - Frequent89
HP:0007350HP:0007350Hyperreflexia in upper limbs0ALDH18A1 CL E G H58329722ORPHA:447760Autosomal recessive spastic paraplegia type 9BHP:0040281 - Very frequent89
HP:0007350HP:0007350Hyperreflexia in upper limbs0ATP13A2 CL E G H2340030213ORPHA:306674Kufor-Rakeb syndromeHP:0040281 - Very frequent100
HP:0007350HP:0007350Hyperreflexia in upper limbs0CAPN1 CL E G H8231476ORPHA:488594Autosomal recessive spastic paraplegia type 76HP:0040282 - Frequent4
HP:0007350HP:0007350Hyperreflexia in upper limbs0CAPN1 CL E G H8231476OMIM:616907SPASTIC PARAPLEGIA 76, AUTOSOMAL RECESSIVE; SPG764
HP:0007350HP:0007350Hyperreflexia in upper limbs0CYP2U1 CL E G H11361220582OMIM:615030Spastic paraplegia 56, autosomal recessive18
HP:0007350HP:0007350Hyperreflexia in upper limbs0ERLIN2 CL E G H111601356ORPHA:209951Autosomal recessive spastic paraplegia type 18HP:0040281 - Very frequent18
HP:0007350HP:0007350Hyperreflexia in upper limbs0ERLIN2 CL E G H111601356ORPHA:280384Recessive intellectual disability-motor dysfunction-multiple joint contractures syndromeHP:0040283 - Occasional18
HP:0007350HP:0007350Hyperreflexia in upper limbs0FAR1 CL E G H8418826222ORPHA:447753Autosomal dominant spastic paraplegia type 9AHP:0040281 - Very frequent7
HP:0007350HP:0007350Hyperreflexia in upper limbs0FTL CL E G H25123999ORPHA:157846NeuroferritinopathyHP:0040283 - Occasional33
HP:0007350HP:0007350Hyperreflexia in upper limbs0HSPD1 CL E G H33295261ORPHA:100994Autosomal dominant spastic paraplegia type 13HP:0040282 - Frequent46
HP:0007350HP:0007350Hyperreflexia in upper limbs0KIF5A CL E G H37986323ORPHA:100991Autosomal dominant spastic paraplegia type 10HP:0040282 - Frequent93
HP:0007350HP:0007350Hyperreflexia in upper limbs0KPNA3 CL E G H38396396ORPHA:171612Autosomal dominant spastic paraplegia type 37HP:0040283 - Occasional
HP:0007350HP:0007350Hyperreflexia in upper limbs0REEP1 CL E G H6505525786ORPHA:101011Autosomal dominant spastic paraplegia type 31HP:0040282 - Frequent87
HP:0007350HP:0007350Hyperreflexia in upper limbs0RTN2 CL E G H625310468ORPHA:100993Autosomal dominant spastic paraplegia type 12HP:0040283 - Occasional25
HP:0007350HP:0007350Hyperreflexia in upper limbs0SDHA CL E G H638910680ORPHA:3208Isolated succinate-CoQ reductase deficiencyHP:0040282 - Frequent304
HP:0007350HP:0007350Hyperreflexia in upper limbs0SDHAF1 CL E G H64409633867ORPHA:3208Isolated succinate-CoQ reductase deficiencyHP:0040282 - Frequent16
HP:0007350HP:0007350Hyperreflexia in upper limbs0SDHB CL E G H639010681ORPHA:3208Isolated succinate-CoQ reductase deficiencyHP:0040282 - Frequent237
HP:0007350HP:0007350Hyperreflexia in upper limbs0SDHD CL E G H639210683ORPHA:3208Isolated succinate-CoQ reductase deficiencyHP:0040282 - Frequent129
HP:0007350HP:0007350Hyperreflexia in upper limbs0SPAST CL E G H668311233ORPHA:100985Autosomal dominant spastic paraplegia type 4HP:0040283 - Occasional208
HP:0007350HP:0007350Hyperreflexia in upper limbs0SPG11 CL E G H8020811226ORPHA:2822Autosomal recessive spastic paraplegia type 11HP:0040282 - Frequent287
HP:0007350HP:0007350Hyperreflexia in upper limbs0SPTLC2 CL E G H951711278OMIM:613640Neuropathy, hereditary sensory and autonomic, type IC149
HP:0007350HP:0007350Hyperreflexia in upper limbs0TNR CL E G H714311953OMIM:619653NEURODEVELOPMENTAL DISORDER, NONPROGRESSIVE, WITH SPASTICITY AND TRANSIENT OPISTHOTONUS; NEDSTO7
HP:0007350HP:0007350Hyperreflexia in upper limbs0UBAP1 CL E G H5127112461ORPHA:100993Autosomal dominant spastic paraplegia type 12HP:0040283 - Occasional
HP:0007350HP:0007350Hyperreflexia in upper limbs0UBAP1 CL E G H5127112461OMIM:618418Spastic paraplegia 80, autosomal dominant
HP:0007350HP:0007350Hyperreflexia in upper limbs0VPS37A CL E G H13749224928ORPHA:319199Autosomal recessive spastic paraplegia type 53HP:0040281 - Very frequent7
HP:0007350HP:0033205Biceps hyperreflexia1 CL E G H
HP:0007350HP:0033203Brachioradialis hyperreflexia1 CL E G H
HP:0007350HP:0033204Triceps hyperreflexia1ABCC9 CL E G H1006060OMIM:619719INTELLECTUAL DISABILITY AND MYOPATHY SYNDROME; IDMYS254


Genes (23) :ABCC9 ALDH18A1 ATP13A2 CAPN1 CYP2U1 ERLIN2 FAR1 FTL HSPD1 KIF5A KPNA3 REEP1 RTN2 SDHA SDHAF1 SDHB SDHD SPAST SPG11 SPTLC2 TNR UBAP1 VPS37A

Diseases (23) :OMIM:619719 ORPHA:447753 ORPHA:447757 ORPHA:447760 ORPHA:306674 ORPHA:488594 OMIM:616907 OMIM:615030 ORPHA:209951 ORPHA:280384 ORPHA:157846 ORPHA:100994 ORPHA:100991 ORPHA:171612 ORPHA:101011 ORPHA:100993 ORPHA:3208 ORPHA:100985 ORPHA:2822 OMIM:613640 OMIM:619653 OMIM:618418 ORPHA:319199
 

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