Human Phenotype Ontology 
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Hypertonia (HP:0001276)help
Parent Node:
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Spasticity (HP:0001257)help
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Spastic tetraplegia (HP:0002510)help
Term ID: 2510
Name: Spastic tetraplegia
Synonym: Spastic quadriplegia
Definition: Spastic paralysis affecting all four limbs.
Comments:
Reference: HP:0002510
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
..expandSpasticity of facial muscles (HP:0002491) help
..expandSpasticity of pharyngeal muscles (HP:0002501) help
..expandUpper limb spasticity (HP:0006986) help
InputHPO IDHPO termDistanceGeneGene id entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
HP:0002510HP:0002510Spastic tetraplegia0ADD3 CL E G H120617008Cerebral palsy, spastic quadriplegic, 3617008C4310767OMIM1847245601568
HP:0002510HP:0002510Spastic tetraplegia0ALS2 CL E G H57679293168ORPHA173347443606352
HP:0002510HP:0002510Spastic tetraplegia0ALS2 CL E G H57679607225Infantile-onset ascending hereditary spastic paralysis607225C2931441OMIM173347443606352
HP:0002510HP:0002510Spastic tetraplegia0ANKLE2 CL E G H23141616681Microcephaly 16, primary, autosomal recessive616681C4225249OMIM128129101616062
HP:0002510HP:0002510Spastic tetraplegia0AP4E1 CL E G H23431613744Spastic paraplegia 51, autosomal recessive613744C3151056OMIM118178573607244
HP:0002510HP:0002510Spastic tetraplegia0AP4M1 CL E G H9179612936Spastic paraplegia 50, autosomal recessive612936C2752008OMIM115150574602296
HP:0002510HP:0002510Spastic tetraplegia0ARSA CL E G H410250100Metachromatic leukodystrophy250100C0023522OMIM1254567713607574
HP:0002510HP:0002510Spastic tetraplegia0ARX CL E G H170302300004Proud Levine Carpenter syndrome300004C0796124OMIM19846618060300382
HP:0002510HP:0002510Spastic tetraplegia0ASNS CL E G H440615574Asparagine synthetase deficiency615574C3809971OMIM12798753108370
HP:0002510HP:0002510Spastic tetraplegia0ATP13A2 CL E G H23400617225Spastic paraplegia 78, autosomal recessive617225C4310662OMIM14436530213610513
HP:0002510HP:0002510Spastic tetraplegia0AUH CL E G H5492509503-Methylglutaconic aciduria type 1250950C0342727OMIM112128890600529
HP:0002510HP:0002510Spastic tetraplegia0BCL11B CL E G H64919617237Immunodeficiency 49617237C4310656OMIM1126513222606558
HP:0002510HP:0002510Spastic tetraplegia0CACNA1E CL E G H777618285618285618285OMIM124761392601013
HP:0002510HP:0002510Spastic tetraplegia0CNPY3 CL E G H10695617929EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 60617929CN244549OMIM152011968610774
HP:0002510HP:0002510Spastic tetraplegia0COASY CL E G H80347615643Neurodegeneration with brain iron accumulation 6615643C3810230OMIM137629932609855
HP:0002510HP:0002510Spastic tetraplegia0COG2 CL E G H22796435934ORPHA12916546606974
HP:0002510HP:0002510Spastic tetraplegia0COG2 CL E G H22796617395CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIq617395C4479353OMIM12916546606974
HP:0002510HP:0002510Spastic tetraplegia0CTNNA2 CL E G H1496618174CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 9618174OMIM16452510114025
HP:0002510HP:0002510Spastic tetraplegia0ELOVL4 CL E G H6785614457Ichthyosis, spastic quadriplegia, and mental retardation614457C3280856OMIM11712214415605512
HP:0002510HP:0002510Spastic tetraplegia0FUCA1 CL E G H2517230000Fucosidosis230000C0016788OMIM1341094006612280
HP:0002510HP:0002510Spastic tetraplegia0FUCA1 CL E G H2517349Neuroaxonal dystrophy renal tubular acidosisORPHA1341094006612280
HP:0002510HP:0002510Spastic tetraplegia0GAD1 CL E G H2571603513Cerebral palsy, spastic quadriplegic, 1603513C2751938OMIM171024092605363
HP:0002510HP:0002510Spastic tetraplegia0GLB1 CL E G H2720230600GM1 gangliosidosis type 2230600C0268272OMIM12313084298611458
HP:0002510HP:0002510Spastic tetraplegia0GLYCTK CL E G H132158220120Deficiency of glycerate kinase220120C1291386OMIM153924247610516
HP:0002510HP:0002510Spastic tetraplegia0GRIA4 CL E G H2893617864NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT SEIZURES AND GAIT ABNORMALITIES617864CN800195OMIM15334574138246
HP:0002510HP:0002510Spastic tetraplegia0HSD17B10 CL E G H30283004382-methyl-3-hydroxybutyric aciduria300438C3266731OMIM1171794800300256
HP:0002510HP:0002510Spastic tetraplegia0IBA57 CL E G H200205615330Multiple mitochondrial dysfunctions syndrome 3615330C3809165OMIM12311327302615316
HP:0002510HP:0002510Spastic tetraplegia0KANK1 CL E G H23189612900Cerebral palsy, spastic quadriplegic, 2612900C2752061OMIM11139219309607704
HP:0002510HP:0002510Spastic tetraplegia0KIF2A CL E G H3796615411Cortical dysplasia, complex, with other brain malformations 3615411C3809414OMIM171006318602591
HP:0002510HP:0002510Spastic tetraplegia0KIF5C CL E G H3800615282Cortical dysplasia, complex, with other brain malformations 2615282C3809013OMIM16766325604593
HP:0002510HP:0002510Spastic tetraplegia0LIAS CL E G H11019614462Pyruvate dehydrogenase lipoic acid synthetase deficiency614462C3280887OMIM1817916429607031
HP:0002510HP:0002510Spastic tetraplegia0MCOLN1 CL E G H57192252650Mucolipidosis type IV252650C0238286OMIM13622813356605248
HP:0002510HP:0002510Spastic tetraplegia0MOCS1 CL E G H4337252150Molybdenum cofactor deficiency, complementation group A252150C1854988OMIM1351817190603707
HP:0002510HP:0002510Spastic tetraplegia0MOCS2 CL E G H4338252160Molybdenum cofactor deficiency, complementation group B252160C1854989OMIM1161187193603708
HP:0002510HP:0002510Spastic tetraplegia0MRPS22 CL E G H56945611719Combined oxidative phosphorylation deficiency 5611719C2673642OMIM198414508605810
HP:0002510HP:0002510Spastic tetraplegia0NALCN CL E G H259232615419Hypotonia, infantile, with psychomotor retardation and characteristic facies 1615419C3809454OMIM16524719082611549
HP:0002510HP:0002510Spastic tetraplegia0NDE1 CL E G H54820605013Microhydranencephaly605013C1857977OMIM120116117619609449
HP:0002510HP:0002510Spastic tetraplegia0NDUFAF4 CL E G H29078618237MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 15618237OMIM139221034611776
HP:0002510HP:0002510Spastic tetraplegia0OSTM1 CL E G H28962259720Osteopetrosis, autosomal recessive 5259720C1968603OMIM1912921652607649
HP:0002510HP:0002510Spastic tetraplegia0OTUD6B CL E G H51633617452Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies617452C4479520OMIM164724281612021
HP:0002510HP:0002510Spastic tetraplegia0PCDH12 CL E G H51294251280Microcephaly with spastic quadriplegia251280C1855055OMIM16568657605622
HP:0002510HP:0002510Spastic tetraplegia0PDHX CL E G H8050245349Pyruvate dehydrogenase E3-binding protein deficiency245349C1855553OMIM12218621350608769
HP:0002510HP:0002510Spastic tetraplegia0PHGDH CL E G H26227601815Phosphoglycerate dehydrogenase deficiency601815C1866174OMIM1231458923606879
HP:0002510HP:0002510Spastic tetraplegia0PLA2G6 CL E G H8398256600Infantile neuroaxonal dystrophy256600C0270724OMIM11792899039603604
HP:0002510HP:0002510Spastic tetraplegia0PRDM8 CL E G H56978616640Epilepsy, progressive myoclonic, 10616640C4225258OMIM1117013993616639
HP:0002510HP:0002510Spastic tetraplegia0RAB18 CL E G H22931614222Warburg micro syndrome 3614222C3280203OMIM1515414244602207
HP:0002510HP:0002510Spastic tetraplegia0RANBP2 CL E G H590388619ORPHA184459848601181
HP:0002510HP:0002510Spastic tetraplegia0SCN2A CL E G H6326613721Early infantile epileptic encephalopathy 11613721C3150987OMIM1268105910588182390
HP:0002510HP:0002510Spastic tetraplegia0SCN3A CL E G H6328617938Early infantile epileptic encephalopathy 62617938CN244551OMIM11942210590182391
HP:0002510HP:0002510Spastic tetraplegia0SEPSECS CL E G H51091613811Pontocerebellar hypoplasia type 2D613811C3151140OMIM11617430605613009
HP:0002510HP:0002510Spastic tetraplegia0SIX6 CL E G H4990206900Microphthalmia syndromic 3206900C1859773OMIM1115910892606326
HP:0002510HP:0002510Spastic tetraplegia0SLC16A2 CL E G H6567300523Allan-Herndon-Dudley syndrome300523C0795889OMIM18825710923300095
HP:0002510HP:0002510Spastic tetraplegia0SLC1A4 CL E G H6509616657Spastic tetraplegia, thin corpus callosum, and progressive microcephaly616657C4225254OMIM184610942600229
HP:0002510HP:0002510Spastic tetraplegia0SOX10 CL E G H6663609136Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease609136C1836727OMIM115119211190602229
HP:0002510HP:0002510Spastic tetraplegia0SOX2 CL E G H6657206900Microphthalmia syndromic 3206900C1859773OMIM110510511195184429
HP:0002510HP:0002510Spastic tetraplegia0SPTAN1 CL E G H6709613477Early infantile epileptic encephalopathy 5613477C3150731OMIM14093211273182810
HP:0002510HP:0002510Spastic tetraplegia0STXBP1 CL E G H6812612164Early infantile epileptic encephalopathy 4612164C2677326OMIM119553811444602926
HP:0002510HP:0002510Spastic tetraplegia0SYNJ1 CL E G H8867617389Epileptic encephalopathy, early infantile, 53617389C4479313OMIM12745211503604297
HP:0002510HP:0002510Spastic tetraplegia0TBC1D20 CL E G H128637615663Warburg micro syndrome 4615663C3810265OMIM1710216133611663
HP:0002510HP:0002510Spastic tetraplegia0TBCD CL E G H6904617193Encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum617193C4310671OMIM12317511581604649
HP:0002510HP:0002510Spastic tetraplegia0TBCE CL E G H6905617207Encephalopathy, progressive, with amyotrophy and optic atrophy617207C4310667OMIM1816111582604934
HP:0002510HP:0002510Spastic tetraplegia0TUBA1A CL E G H7846611603Lissencephaly 3611603C1969029OMIM16819020766602529
HP:0002510HP:0002510Spastic tetraplegia0VPS53 CL E G H55275615851Pontocerebellar hypoplasia, type 2e615851C4014488OMIM1520425608615850
HP:0002510HP:0002510Spastic tetraplegia0WARS2 CL E G H10352617710NEURODEVELOPMENTAL DISORDER, MITOCHONDRIAL, WITH ABNORMAL MOVEMENTS AND LACTIC ACIDOSIS, WITH OR WITHOUT SEIZURES617710C4540192OMIM1143612730604733
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0002510HP:0002510Spastic tetraplegia0ADAR CL E G H10351ORPHA0229316225146920
HP:0002510HP:0002510Spastic tetraplegia0CACNA1D CL E G H776615474Primary aldosteronism, seizures, and neurologic abnormalities615474C3809609OMIM0112011391114206
HP:0002510HP:0002510Spastic tetraplegia0DYNC1H1 CL E G H1778614563Mental retardation, autosomal dominant 13614563C3281202OMIM07714532961600112
HP:0002510HP:0002510Spastic tetraplegia0IFIH1 CL E G H6413551ORPHA02828618873606951
HP:0002510HP:0002510Spastic tetraplegia0OTUD6B CL E G H51633505237ORPHA064724281612021
HP:0002510HP:0002510Spastic tetraplegia0PHGDH CL E G H2622779351ORPHA0231458923606879
HP:0002510HP:0002510Spastic tetraplegia0RNASEH2A CL E G H1053551ORPHA02113318518606034
HP:0002510HP:0002510Spastic tetraplegia0RNASEH2B CL E G H7962151ORPHA04214925671610326
HP:0002510HP:0002510Spastic tetraplegia0RNASEH2C CL E G H8415351ORPHA01511224116610330
HP:0002510HP:0002510Spastic tetraplegia0SAMHD1 CL E G H2593951ORPHA05720015925606754
HP:0002510HP:0002510Spastic tetraplegia0TANGO2 CL E G H128989616878TANGO2-Related Metabolic Encephalopathy and Arrhythmias616878C4225171OMIM0941325439616830
HP:0002510HP:0002510Spastic tetraplegia0TREX1 CL E G H1127751ORPHA07115312269606609
HP:0002510HP:0002510Spastic tetraplegia0TUBB3 CL E G H10381300570ORPHA02615520772602661
HP:0002510HP:0002510Spastic tetraplegia0TUBG1 CL E G H7283615412Cortical dysplasia, complex, with other brain malformations 4615412C3809420OMIM085412417191135
HP:0002510HP:0002510Spastic tetraplegia0WDR73 CL E G H84942251300Galloway-Mowat syndrome 1251300CN031715OMIM0129525928616144


Genes (74) :ADAR ADD3 ALS2 ANKLE2 AP4E1 AP4M1 ARSA ARX ASNS ATP13A2 AUH BCL11B CACNA1D CACNA1E CNPY3 COASY COG2 CTNNA2 DYNC1H1 ELOVL4 FUCA1 GAD1 GLB1 GLYCTK GRIA4 HSD17B10 IBA57 IFIH1 KANK1 KIF2A KIF5C LIAS MCOLN1 MOCS1 MOCS2 MRPS22 NALCN NDE1 NDUFAF4 OSTM1 OTUD6B PCDH12 PDHX PHGDH PLA2G6 PRDM8 RAB18 RANBP2 RNASEH2A RNASEH2B RNASEH2C SAMHD1 SCN2A SCN3A SEPSECS SIX6 SLC16A2 SLC1A4 SOX10 SOX2 SPTAN1 STXBP1 SYNJ1 TANGO2 TBC1D20 TBCD TBCE TREX1 TUBA1A TUBB3 TUBG1 VPS53 WARS2 WDR73

Diseases (72) :51 617008 293168 607225 616681 613744 612936 250100 300004 615574 617225 250950 617237 615474 618285 617929 615643 435934 617395 618174 614563 614457 230000 349 603513 230600 220120 617864 300438 615330 612900 615411 615282 614462 252650 252150 252160 611719 615419 605013 618237 259720 505237 617452 251280 245349 79351 601815 256600 616640 614222 88619 613721 617938 613811 206900 300523 616657 609136 613477 612164 617389 616878 615663 617193 617207 611603 300570 615412 615851 617710 251300
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is June 2019 release.