Human Phenotype Ontology 
Grandparent Node:
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Hypertonia (HP:0001276)help
Parent Node:
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Dysarthria (HP:0001260)help
Parent Node:
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Spasticity (HP:0001257)help
..Starting node
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Spastic dysarthria (HP:0002464)help
Term ID: 2464
Name: Spastic dysarthria
Synonym: Rigid dysarthria
Definition: A type of dysarthria related to bilateral damage of the upper motor neuron tracts of the pyramidal and extra- pyramidal tracts. Speech of affected individuals is slow, effortful, and has a harsh vocal quality.
Comments:
Reference: HP:0002464
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 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
..expandUpper limb spasticity (HP:0006986) 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:0002464HP:0002464Spastic dysarthria0AFG3L2 CL E G H10939315ORPHA:313772Early-onset spastic ataxia-myoclonic epilepsy-neuropathy syndromeHP:0040282 - Frequent86
HP:0002464HP:0002464Spastic dysarthria0ALDH18A1 CL E G H58329722ORPHA:447753Autosomal dominant spastic paraplegia type 9AHP:0040283 - Occasional89
HP:0002464HP:0002464Spastic dysarthria0ALDH18A1 CL E G H58329722ORPHA:447757Autosomal dominant spastic paraplegia type 9BHP:0040282 - Frequent89
HP:0002464HP:0002464Spastic dysarthria0ALS2 CL E G H57679443OMIM:205100Amyotrophic lateral sclerosis 2, juvenile.114
HP:0002464HP:0002464Spastic dysarthria0ALS2 CL E G H57679443ORPHA:247604Juvenile primary lateral sclerosisHP:0040282 - Frequent114
HP:0002464HP:0002464Spastic dysarthria0ALS2 CL E G H57679443OMIM:606353Primary lateral sclerosis, juvenile.114
HP:0002464HP:0002464Spastic dysarthria0AP4B1 CL E G H10717572ORPHA:280763Severe intellectual disability and progressive spastic paraplegiaHP:0040282 - Frequent49
HP:0002464HP:0002464Spastic dysarthria0AP4E1 CL E G H23431573ORPHA:280763Severe intellectual disability and progressive spastic paraplegiaHP:0040282 - Frequent48
HP:0002464HP:0002464Spastic dysarthria0AP4M1 CL E G H9179574ORPHA:280763Severe intellectual disability and progressive spastic paraplegiaHP:0040282 - Frequent41
HP:0002464HP:0002464Spastic dysarthria0AP4S1 CL E G H11154575ORPHA:280763Severe intellectual disability and progressive spastic paraplegiaHP:0040282 - Frequent18
HP:0002464HP:0002464Spastic dysarthria0ATP2B3 CL E G H492816ORPHA:314978X-linked non progressive cerebellar ataxiaHP:0040282 - Frequent19
HP:0002464HP:0002464Spastic dysarthria0ATXN8 CL E G H72406632925ORPHA:98760Spinocerebellar ataxia type 8HP:0040282 - Frequent1
HP:0002464HP:0002464Spastic dysarthria0ATXN8OS CL E G H631510561ORPHA:98760Spinocerebellar ataxia type 8HP:0040282 - Frequent1
HP:0002464HP:0002464Spastic dysarthria0ERLIN2 CL E G H111601356ORPHA:247604Juvenile primary lateral sclerosisHP:0040282 - Frequent18
HP:0002464HP:0002464Spastic dysarthria0FAR1 CL E G H8418826222ORPHA:447753Autosomal dominant spastic paraplegia type 9AHP:0040283 - Occasional7
HP:0002464HP:0002464Spastic dysarthria0GBA2 CL E G H5770418986ORPHA:352641Autosomal recessive cerebellar ataxia with late-onset spasticityHP:0040282 - Frequent30
HP:0002464HP:0002464Spastic dysarthria0GBA2 CL E G H5770418986ORPHA:320391Autosomal recessive spastic paraplegia type 46HP:0040283 - Occasional30
HP:0002464HP:0002464Spastic dysarthria0GJB1 CL E G H27054283ORPHA:1175X-linked progressive cerebellar ataxiaHP:0040282 - Frequent107
HP:0002464HP:0002464Spastic dysarthria0GLRX5 CL E G H5121820134ORPHA:401866Childhood-onset spasticity with hyperglycinemiaHP:0040282 - Frequent17
HP:0002464HP:0002464Spastic dysarthria0MAG CL E G H40996783OMIM:616680Spastic paraplegia 75, autosomal recessive.4
HP:0002464HP:0002464Spastic dysarthria0MAPT CL E G H41376893ORPHA:240094Progressive supranuclear palsy-pure akinesia with gait freezing syndromeHP:0040282 - Frequent140
HP:0002464HP:0002464Spastic dysarthria0MARS2 CL E G H9293525133ORPHA:314603Autosomal recessive spastic ataxia with leukoencephalopathyHP:0040282 - Frequent25
HP:0002464HP:0002464Spastic dysarthria0PEX6 CL E G H51908859ORPHA:95433Autosomal recessive spinocerebellar ataxia-blindness-deafness syndromeHP:0040282 - Frequent98
HP:0002464HP:0002464Spastic dysarthria0PNPT1 CL E G H8717823166ORPHA:101111Spinocerebellar ataxia type 25HP:0040282 - Frequent60
HP:0002464HP:0002464Spastic dysarthria0POLR3A CL E G H1112830074ORPHA:447896Tremor-ataxia-central hypomyelination syndromeHP:0040282 - Frequent138
HP:0002464HP:0002464Spastic dysarthria0PRNP CL E G H56219449ORPHA:282166Inherited Creutzfeldt-Jakob diseaseHP:0040282 - Frequent69
HP:0002464HP:0002464Spastic dysarthria0RAB3GAP2 CL E G H2578217168ORPHA:401830Autosomal recessive spastic paraplegia type 69HP:0040282 - Frequent135
HP:0002464HP:0002464Spastic dysarthria0SPART CL E G H2311118514ORPHA:101000Autosomal recessive spastic paraplegia type 20HP:0040282 - Frequent66
HP:0002464HP:0002464Spastic dysarthria0SPG7 CL E G H668711237ORPHA:35689Primary lateral sclerosisHP:0040282 - Frequent171
HP:0002464HP:0002464Spastic dysarthria0TDP1 CL E G H5577518884ORPHA:94124Spinocerebellar ataxia with axonal neuropathy type 1HP:0040282 - Frequent52
HP:0002464HP:0002464Spastic dysarthria0VAMP1 CL E G H684312642ORPHA:251282Autosomal dominant spastic ataxia type 1HP:0040282 - Frequent2


Genes (27) :AFG3L2 ALDH18A1 ALS2 AP4B1 AP4E1 AP4M1 AP4S1 ATP2B3 ATXN8 ATXN8OS ERLIN2 FAR1 GBA2 GJB1 GLRX5 MAG MAPT MARS2 PEX6 PNPT1 POLR3A PRNP RAB3GAP2 SPART SPG7 TDP1 VAMP1

Diseases (25) :ORPHA:313772 ORPHA:447753 ORPHA:447757 OMIM:205100 ORPHA:247604 OMIM:606353 ORPHA:280763 ORPHA:314978 ORPHA:98760 ORPHA:352641 ORPHA:320391 ORPHA:1175 ORPHA:401866 OMIM:616680 ORPHA:240094 ORPHA:314603 ORPHA:95433 ORPHA:101111 ORPHA:447896 ORPHA:282166 ORPHA:401830 ORPHA:101000 ORPHA:35689 ORPHA:94124 ORPHA:251282
 

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