Human Phenotype Ontology 
Grandparent Node:
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Hypertonia (HP:0001276)help
Parent Node:
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Spasticity (HP:0001257)help
..Starting node
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Upper limb spasticity (HP:0006986)help
Term ID: 6986
Name: Upper limb spasticity
Synonym: Uncontrollable movement in upper arms
Definition:
Comments:
Reference: HP:0006986
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandClasp-knife sign (HP:0031866) help
..expandLower limb spasticity (HP:0002061) help
..expandOpisthotonus (HP:0002179) help
..expandProgressive spasticity (HP:0002191) help
..expandSpastic diplegia (HP:0001264) help
..expandSpastic dysarthria (HP:0002464) help
..expandSpastic gait (HP:0002064) help
..expandSpastic hemiparesis (HP:0011099) help
..expandSpastic tetraparesis (HP:0001285) help
..expandSpastic tetraplegia (HP:0002510) help
..expandSpasticity of facial muscles (HP:0002491) help
..expandSpasticity of pharyngeal muscles (HP:0002501) 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:0006986HP:0006986Upper limb spasticity0ACTL6B CL E G H51412160OMIM:618468DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 76; DEE762
HP:0006986HP:0006986Upper limb spasticity0ALS2 CL E G H57679443OMIM:205100Amyotrophic lateral sclerosis 2, juvenile.114
HP:0006986HP:0006986Upper limb spasticity0ALS2 CL E G H57679443ORPHA:300605Juvenile amyotrophic lateral sclerosisHP:0040281 - Very frequent114
HP:0006986HP:0006986Upper limb spasticity0CLCN4 CL E G H11832022ORPHA:485350CLCN4-related X-linked intellectual disability syndromeHP:0040284 - Very rare45
HP:0006986HP:0006986Upper limb spasticity0CYP7B1 CL E G H94202652ORPHA:100986Autosomal recessive spastic paraplegia type 5AHP:0040284 - Very rare57
HP:0006986HP:0006986Upper limb spasticity0CYP7B1 CL E G H94202652OMIM:270800Spastic paraplegia 5A, autosomal recessive57
HP:0006986HP:0006986Upper limb spasticity0DDHD2 CL E G H2325929106OMIM:615033Spastic paraplegia 54, autosomal recessive29
HP:0006986HP:0006986Upper limb spasticity0ERLIN2 CL E G H111601356OMIM:611225Spastic paraplegia 18, autosomal recessive.18
HP:0006986HP:0006986Upper limb spasticity0FUS CL E G H25214010ORPHA:300605Juvenile amyotrophic lateral sclerosisHP:0040281 - Very frequent105
HP:0006986HP:0006986Upper limb spasticity0GBA2 CL E G H5770418986ORPHA:320391Autosomal recessive spastic paraplegia type 46HP:0040283 - Occasional30
HP:0006986HP:0006986Upper limb spasticity0GBA2 CL E G H5770418986OMIM:614409Spastic paraplegia 46, autosomal recessive.30
HP:0006986HP:0006986Upper limb spasticity0GJC2 CL E G H5716517494OMIM:613206Spastic paraplegia 44, autosomal recessive.37
HP:0006986HP:0006986Upper limb spasticity0HEPACAM CL E G H22029626361OMIM:613925Megalencephalic leukoencephalopathy with subcortical cysts 2A82
HP:0006986HP:0006986Upper limb spasticity0KIF5A CL E G H37986323ORPHA:100991Autosomal dominant spastic paraplegia type 10HP:0040284 - Very rare93
HP:0006986HP:0006986Upper limb spasticity0PIGA CL E G H52778957OMIM:300868Multiple congenital anomalies-hypotonia-seizures syndrome 2.46
HP:0006986HP:0006986Upper limb spasticity0RARS2 CL E G H5703821406OMIM:611523Pontocerebellar hypoplasia, type 6.93
HP:0006986HP:0006986Upper limb spasticity0RNF170 CL E G H8179025358OMIM:619686SPASTIC PARAPLEGIA 85, AUTOSOMAL RECESSIVE; SPG853
HP:0006986HP:0006986Upper limb spasticity0SATB1 CL E G H630410541OMIM:619229KOHLSCHUTTER-TONZ SYNDROME-LIKE; KTZSL
HP:0006986HP:0006986Upper limb spasticity0SELENOI CL E G H8546529361OMIM:618768SPASTIC PARAPLEGIA 81, AUTOSOMAL RECESSIVE; SPG81
HP:0006986HP:0006986Upper limb spasticity0SIGMAR1 CL E G H102808157ORPHA:300605Juvenile amyotrophic lateral sclerosisHP:0040281 - Very frequent6
HP:0006986HP:0006986Upper limb spasticity0SPART CL E G H2311118514OMIM:275900Spastic paraplegia 20, autosomal recessive.66
HP:0006986HP:0006986Upper limb spasticity0SPG11 CL E G H8020811226ORPHA:300605Juvenile amyotrophic lateral sclerosisHP:0040281 - Very frequent287
HP:0006986HP:0006986Upper limb spasticity0SPTLC1 CL E G H1055811277ORPHA:300605Juvenile amyotrophic lateral sclerosisHP:0040281 - Very frequent54
HP:0006986HP:0006986Upper limb spasticity0TBCD CL E G H690411581OMIM:617193ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND THIN CORPUS CALLOSUM; PEBAT16
HP:0006986HP:0006986Upper limb spasticity0THOC2 CL E G H5718719073ORPHA:457240X-linked intellectual disability-short stature-overweight syndromeHP:0040283 - Occasional5
HP:0006986HP:0006986Upper limb spasticity0UBAP1 CL E G H5127112461OMIM:618418Spastic paraplegia 80, autosomal dominant
HP:0006986HP:0006986Upper limb spasticity0WASHC5 CL E G H989728984ORPHA:100989Autosomal dominant spastic paraplegia type 8HP:0040283 - Occasional83
HP:0006986HP:0006986Upper limb spasticity0WASHC5 CL E G H989728984OMIM:603563Spastic paraplegia 8, autosomal dominantHP:0040283 - Occasional83
HP:0006986HP:0006986Upper limb spasticity0ZFYVE26 CL E G H2350320761ORPHA:100996Autosomal recessive spastic paraplegia type 15HP:0040282 - Frequent189


Genes (25) :ACTL6B ALS2 CLCN4 CYP7B1 DDHD2 ERLIN2 FUS GBA2 GJC2 HEPACAM KIF5A PIGA RARS2 RNF170 SATB1 SELENOI SIGMAR1 SPART SPG11 SPTLC1 TBCD THOC2 UBAP1 WASHC5 ZFYVE26

Diseases (25) :OMIM:618468 OMIM:205100 ORPHA:300605 ORPHA:485350 ORPHA:100986 OMIM:270800 OMIM:615033 OMIM:611225 ORPHA:320391 OMIM:614409 OMIM:613206 OMIM:613925 ORPHA:100991 OMIM:300868 OMIM:611523 OMIM:619686 OMIM:619229 OMIM:618768 OMIM:275900 OMIM:617193 ORPHA:457240 OMIM:618418 ORPHA:100989 OMIM:603563 ORPHA:100996
 

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