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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Spastic diplegia (HP:0001264)help
Term ID: 1264
Name: Spastic diplegia
Synonym: Spastic diparesis; Spastic diplegic
Definition: Spasticity (neuromuscular hypertonia) primarily in the muscles of the legs, hips, and pelvis.
Comments:
Reference: HP:0001264
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 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
..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:0001264HP:0001264Spastic diplegia0AARS1 CL E G H1620OMIM:619691TRICHOTHIODYSTROPHY 8, NONPHOTOSENSITIVE; TTD8
HP:0001264HP:0001264Spastic diplegia0AASS CL E G H1015717366ORPHA:2203HyperlysinemiaHP:0040283 - Occasional15
HP:0001264HP:0001264Spastic diplegia0AASS CL E G H1015717366ORPHA:3124SaccharopinuriaHP:0040283 - Occasional15
HP:0001264HP:0001264Spastic diplegia0ACP5 CL E G H54124OMIM:607944Spondyloenchondrodysplasia with immune dysregulation.16
HP:0001264HP:0001264Spastic diplegia0ADD3 CL E G H120245OMIM:617008Cerebral palsy, spastic quadriplegic, 3.3
HP:0001264HP:0001264Spastic diplegia0ALDH3A2 CL E G H224403ORPHA:816Sjögren-Larsson syndromeHP:0040281 - Very frequent87
HP:0001264HP:0001264Spastic diplegia0ALS2 CL E G H57679443OMIM:205100Amyotrophic lateral sclerosis 2, juvenile114
HP:0001264HP:0001264Spastic diplegia0ALS2 CL E G H57679443ORPHA:300605Juvenile amyotrophic lateral sclerosisHP:0040282 - Frequent114
HP:0001264HP:0001264Spastic diplegia0AP1S2 CL E G H8905560ORPHA:85335Fried syndromeHP:0040281 - Very frequent13
HP:0001264HP:0001264Spastic diplegia0BCOR CL E G H5488020893OMIM:309800Microphthalmia, syndromic 1.101
HP:0001264HP:0001264Spastic diplegia0CTNNB1 CL E G H14992514OMIM:615075Neurodevelopmental disorder with spastic diplegia and visual defects.88
HP:0001264HP:0001264Spastic diplegia0DARS1 CL E G H16152678OMIM:615281HYPOMYELINATION WITH BRAINSTEM AND SPINAL CORD INVOLVEMENT AND LEG SPASTICITY; HBSL
HP:0001264HP:0001264Spastic diplegia0ELP2 CL E G H5525018248OMIM:617270Mental retardation, autosomal recessive 586
HP:0001264HP:0001264Spastic diplegia0FLNA CL E G H23163754OMIM:300048Intestinal pseudoobstruction, neuronal, chronic idiopathic, X-linkedHP:0040283 - Occasional493
HP:0001264HP:0001264Spastic diplegia0FUS CL E G H25214010ORPHA:300605Juvenile amyotrophic lateral sclerosisHP:0040282 - Frequent105
HP:0001264HP:0001264Spastic diplegia0GALC CL E G H25814115ORPHA:206436Infantile Krabbe diseaseHP:0040284 - Very rare160
HP:0001264HP:0001264Spastic diplegia0GALC CL E G H25814115ORPHA:206443Late-infantile/juvenile Krabbe diseaseHP:0040282 - Frequent160
HP:0001264HP:0001264Spastic diplegia0GCDH CL E G H26394189OMIM:231670Glutaric acidemia I.115
HP:0001264HP:0001264Spastic diplegia0GLRX5 CL E G H5121820134ORPHA:401866Childhood-onset spasticity with hyperglycinemiaHP:0040282 - Frequent17
HP:0001264HP:0001264Spastic diplegia0GLRX5 CL E G H5121820134OMIM:616859Spasticity, childhood-onset, with hyperglycinemia17
HP:0001264HP:0001264Spastic diplegia0H4C5 CL E G H83674790OMIM:619950
HP:0001264HP:0001264Spastic diplegia0HSD17B10 CL E G H30284800ORPHA:391428HSD10 disease, infantile typeHP:0040283 - Occasional19
HP:0001264HP:0001264Spastic diplegia0HSD17B4 CL E G H32955213OMIM:233400Perrault syndrome 1HP:0040283 - Occasional98
HP:0001264HP:0001264Spastic diplegia0HUWE1 CL E G H1007530892OMIM:309590Mental retardation, x-linked syndromic, Turner type.98
HP:0001264HP:0001264Spastic diplegia0NAA10 CL E G H826018704OMIM:309800Microphthalmia, syndromic 1.23
HP:0001264HP:0001264Spastic diplegia0NDE1 CL E G H5482017619ORPHA:2177HydranencephalyHP:0040282 - Frequent96
HP:0001264HP:0001264Spastic diplegia0NDUFA4 CL E G H46977687OMIM:619065MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 21; MC4DN214
HP:0001264HP:0001264Spastic diplegia0NTRK2 CL E G H49158032OMIM:617830EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 58; EIEE588
HP:0001264HP:0001264Spastic diplegia0PDHX CL E G H805021350ORPHA:255182Pyruvate dehydrogenase E3-binding protein deficiencyHP:0040282 - Frequent98
HP:0001264HP:0001264Spastic diplegia0PNP CL E G H48607892OMIM:613179Immunodeficiency due to purine nucleoside phosphorylase deficiency.52
HP:0001264HP:0001264Spastic diplegia0PQBP1 CL E G H100849330ORPHA:93947X-linked intellectual disability, Golabi-Ito-Hall typeHP:0040282 - Frequent28
HP:0001264HP:0001264Spastic diplegia0PSAP CL E G H56609498ORPHA:206436Infantile Krabbe diseaseHP:0040284 - Very rare81
HP:0001264HP:0001264Spastic diplegia0RAB3GAP1 CL E G H2293017063OMIM:619420MARTSOLF SYNDROME 2; MARTS290
HP:0001264HP:0001264Spastic diplegia0RAB3GAP1 CL E G H2293017063OMIM:600118Warburg micro syndrome 1.90
HP:0001264HP:0001264Spastic diplegia0RAB3GAP2 CL E G H2578217168OMIM:212720Martsolf syndrome 1135
HP:0001264HP:0001264Spastic diplegia0RAB3GAP2 CL E G H2578217168OMIM:614225Warburg micro syndrome 2.135
HP:0001264HP:0001264Spastic diplegia0RNU7-1 CL E G H10014774434033OMIM:619487AICARDI-GOUTIERES SYNDROME 9; AGS9
HP:0001264HP:0001264Spastic diplegia0SIGMAR1 CL E G H102808157ORPHA:300605Juvenile amyotrophic lateral sclerosisHP:0040282 - Frequent6
HP:0001264HP:0001264Spastic diplegia0SIX6 CL E G H499010892OMIM:206900Microphthalmia, syndromic 3.20
HP:0001264HP:0001264Spastic diplegia0SOX2 CL E G H665711195OMIM:206900Microphthalmia, syndromic 3.33
HP:0001264HP:0001264Spastic diplegia0SPG11 CL E G H8020811226ORPHA:300605Juvenile amyotrophic lateral sclerosisHP:0040282 - Frequent287
HP:0001264HP:0001264Spastic diplegia0SPTBN1 CL E G H671111275OMIM:619475DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA
HP:0001264HP:0001264Spastic diplegia0SPTLC1 CL E G H1055811277ORPHA:300605Juvenile amyotrophic lateral sclerosisHP:0040282 - Frequent54
HP:0001264HP:0001264Spastic diplegia0TAF1 CL E G H687211535OMIM:300966MENTAL RETARDATION, X-LINKED, SYNDROMIC 33; MRXS3321
HP:0001264HP:0001264Spastic diplegia0TAF1 CL E G H687211535ORPHA:480907X-linked intellectual disability-global development delay-facial dysmorphism-sacral caudal remnant syndromeHP:0040283 - Occasional21
HP:0001264HP:0001264Spastic diplegia0TANGO2 CL E G H12898925439OMIM:616878Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegenerationHP:0040283 - Occasional12
HP:0001264HP:0001264Spastic diplegia0TUBB3 CL E G H1038120772ORPHA:300570Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutationHP:0040283 - Occasional64


Genes (40) :AARS1 AASS ACP5 ADD3 ALDH3A2 ALS2 AP1S2 BCOR CTNNB1 DARS1 ELP2 FLNA FUS GALC GCDH GLRX5 H4C5 HSD17B10 HSD17B4 HUWE1 NAA10 NDE1 NDUFA4 NTRK2 PDHX PNP PQBP1 PSAP RAB3GAP1 RAB3GAP2 RNU7-1 SIGMAR1 SIX6 SOX2 SPG11 SPTBN1 SPTLC1 TAF1 TANGO2 TUBB3

Diseases (40) :OMIM:619691 ORPHA:2203 ORPHA:3124 OMIM:607944 OMIM:617008 ORPHA:816 OMIM:205100 ORPHA:300605 ORPHA:85335 OMIM:309800 OMIM:615075 OMIM:615281 OMIM:617270 OMIM:300048 ORPHA:206436 ORPHA:206443 OMIM:231670 ORPHA:401866 OMIM:616859 OMIM:619950 ORPHA:391428 OMIM:233400 OMIM:309590 ORPHA:2177 OMIM:619065 OMIM:617830 ORPHA:255182 OMIM:613179 ORPHA:93947 OMIM:619420 OMIM:600118 OMIM:212720 OMIM:614225 OMIM:619487 OMIM:206900 OMIM:619475 OMIM:300966 ORPHA:480907 OMIM:616878 ORPHA:300570
 

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