Human Phenotype Ontology 
Grandparent Node:
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Weakness due to upper motor neuron dysfunction (HP:0010549)help
Parent Node:
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Tetraplegia/tetraparesis (HP:0030182)help
..Starting node
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Tetraplegia (HP:0002445)help
Term ID: 2445
Name: Tetraplegia
Synonym: Paralysis of all four limbs; Quadriplegia
Definition: Paralysis of all four limbs, and trunk of the body below the level of an associated injury to the spinal cord. The etiology of quadriplegia is similar to that of paraplegia except that the lesion is in the cervical spinal cord rather than in the thoracic or lumbar segments of the spinal cord.
Comments:
Reference: HP:0002445
Genes and Diseases:
 
       Child Nodes:
........expandEpisodic quadriplegia (HP:0200072) help

 Sister Nodes: 
..expandTetraparesis (HP:0002273) 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:0002445HP:0002445Tetraplegia0AIFM1 CL E G H91318768OMIM:300816Combined oxidative phosphorylation deficiency 6.60
HP:0002445HP:0002445Tetraplegia0ALDH18A1 CL E G H58329722ORPHA:447760Autosomal recessive spastic paraplegia type 9BHP:0040282 - Frequent89
HP:0002445HP:0002445Tetraplegia0ALDH18A1 CL E G H58329722OMIM:616586Spastic paraplegia 9B, autosomal recessiveHP:0040283 - Occasional89
HP:0002445HP:0002445Tetraplegia0ALS2 CL E G H57679443ORPHA:293168Infantile-onset ascending hereditary spastic paralysisHP:0040281 - Very frequent114
HP:0002445HP:0002445Tetraplegia0ALS2 CL E G H57679443OMIM:607225Spastic paralysis, infantile-onset ascending.114
HP:0002445HP:0002445Tetraplegia0ARSA CL E G H410713OMIM:250100Metachromatic leukodystrophy.253
HP:0002445HP:0002445Tetraplegia0ARX CL E G H17030218060ORPHA:2508Corpus callosum agenesis-abnormal genitalia syndromeHP:0040283 - Occasional166
HP:0002445HP:0002445Tetraplegia0ARX CL E G H17030218060OMIM:300004Corpus callosum, agenesis of, with abnormal genitalia.166
HP:0002445HP:0002445Tetraplegia0ATP1A2 CL E G H477800OMIM:104290Alternating hemiplegia of childhood 1.239
HP:0002445HP:0002445Tetraplegia0ATP1A3 CL E G H478801OMIM:614820Alternating hemiplegia of childhood 2.150
HP:0002445HP:0002445Tetraplegia0BCAP31 CL E G H1013416695OMIM:300475Deafness, dystonia, and cerebral hypomyelination.8
HP:0002445HP:0002445Tetraplegia0BCAP31 CL E G H1013416695ORPHA:369939Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndromeHP:0040282 - Frequent8
HP:0002445HP:0002445Tetraplegia0BCAS3 CL E G H5482814347OMIM:619641HENGEL-MAROOFIAN-SCHOLS SYNDROME; HEMARS2
HP:0002445HP:0002445Tetraplegia0BUB1B CL E G H7011149OMIM:257300Mosaic variegated aneuploidy syndrome 176
HP:0002445HP:0002445Tetraplegia0CACNA1S CL E G H7791397ORPHA:79102Thyrotoxic periodic paralysisHP:0040281 - Very frequent247
HP:0002445HP:0002445Tetraplegia0DOLK CL E G H2284523406OMIM:610768Congenital disorder of glycosylation, type Im55
HP:0002445HP:0002445Tetraplegia0DPYD CL E G H18063012OMIM:274270Dihydropyrimidine dehydrogenase deficiency.144
HP:0002445HP:0002445Tetraplegia0FGFR1 CL E G H22603688ORPHA:2396Encephalocraniocutaneous lipomatosisHP:0040283 - Occasional172
HP:0002445HP:0002445Tetraplegia0GABRA3 CL E G H25564077ORPHA:79102Thyrotoxic periodic paralysisHP:0040281 - Very frequent
HP:0002445HP:0002445Tetraplegia0GALC CL E G H25814115ORPHA:206443Late-infantile/juvenile Krabbe diseaseHP:0040283 - Occasional160
HP:0002445HP:0002445Tetraplegia0IFIH1 CL E G H6413518873OMIM:615846Aicardi-Goutieres syndrome 728
HP:0002445HP:0002445Tetraplegia0KCNJ18 CL E G H10013444439080ORPHA:79102Thyrotoxic periodic paralysisHP:0040281 - Very frequent10
HP:0002445HP:0002445Tetraplegia0KCNT1 CL E G H5758218865OMIM:614959Epileptic encephalopathy, early infantile, 14.321
HP:0002445HP:0002445Tetraplegia0KRAS CL E G H38456407ORPHA:2396Encephalocraniocutaneous lipomatosisHP:0040283 - Occasional196
HP:0002445HP:0002445Tetraplegia0MC2R CL E G H41586930ORPHA:361Familial glucocorticoid deficiencyHP:0040284 - Very rare94
HP:0002445HP:0002445Tetraplegia0MRAP CL E G H562461304ORPHA:361Familial glucocorticoid deficiencyHP:0040284 - Very rare26
HP:0002445HP:0002445Tetraplegia0NADK2 CL E G H13368626404OMIM:6160342,4-Dienoyl-Coa reductase deficiency.14
HP:0002445HP:0002445Tetraplegia0NDUFA8 CL E G H47027692OMIM:619272MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 37; MC1DN37
HP:0002445HP:0002445Tetraplegia0NHLRC2 CL E G H37435424731OMIM:618278Fibrosis, neurodegeneration, and cerebral angiomatosis.
HP:0002445HP:0002445Tetraplegia0NNT CL E G H235307863ORPHA:361Familial glucocorticoid deficiencyHP:0040284 - Very rare13
HP:0002445HP:0002445Tetraplegia0PAFAH1B1 CL E G H50488574ORPHA:95232Lissencephaly due to LIS1 mutationHP:0040282 - Frequent231
HP:0002445HP:0002445Tetraplegia0PNKP CL E G H112849154OMIM:616267Ataxia-Oculomotor apraxia 4.244
HP:0002445HP:0002445Tetraplegia0PRF1 CL E G H55519360OMIM:603553Hemophagocytic lymphohistiocytosis, familial, 2.58
HP:0002445HP:0002445Tetraplegia0PRPS1 CL E G H56319462OMIM:301835Arts syndrome.49
HP:0002445HP:0002445Tetraplegia0PRPS1 CL E G H56319462ORPHA:1187Lethal ataxia with deafness and optic atrophyHP:0040282 - Frequent49
HP:0002445HP:0002445Tetraplegia0RANBP2 CL E G H59039848OMIM:608033Encephalopathy, acute, infection-induced, susceptibility to, 3HP:0040283 - Occasional57
HP:0002445HP:0002445Tetraplegia0STAR CL E G H677011359ORPHA:361Familial glucocorticoid deficiencyHP:0040284 - Very rare45
HP:0002445HP:0002445Tetraplegia0TBCD CL E G H690411581ORPHA:496641Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndromeHP:0040282 - Frequent16
HP:0002445HP:0002445Tetraplegia0TFG CL E G H1034211758OMIM:604484Neuropathy, hereditary motor and sensory, Okinawa type.18
HP:0002445HP:0002445Tetraplegia0TRAPPC2L CL E G H5169330887OMIM:618331Encephalopathy, progressive, early-onset, with episodic rhabdomyolysis.
HP:0002445HP:0002445Tetraplegia0TXNRD2 CL E G H1058718155ORPHA:361Familial glucocorticoid deficiencyHP:0040284 - Very rare85
HP:0002445HP:0200072Episodic quadriplegia1ATP1A2 CL E G H477800OMIM:104290Alternating hemiplegia of childhood 1.239
HP:0002445HP:0200072Episodic quadriplegia1ATP1A3 CL E G H478801OMIM:614820Alternating hemiplegia of childhood 2.150


Genes (36) :AIFM1 ALDH18A1 ALS2 ARSA ARX ATP1A2 ATP1A3 BCAP31 BCAS3 BUB1B CACNA1S DOLK DPYD FGFR1 GABRA3 GALC IFIH1 KCNJ18 KCNT1 KRAS MC2R MRAP NADK2 NDUFA8 NHLRC2 NNT PAFAH1B1 PNKP PRF1 PRPS1 RANBP2 STAR TBCD TFG TRAPPC2L TXNRD2

Diseases (34) :OMIM:300816 ORPHA:447760 OMIM:616586 ORPHA:293168 OMIM:607225 OMIM:250100 ORPHA:2508 OMIM:300004 OMIM:104290 OMIM:614820 OMIM:300475 ORPHA:369939 OMIM:619641 OMIM:257300 ORPHA:79102 OMIM:610768 OMIM:274270 ORPHA:2396 ORPHA:206443 OMIM:615846 OMIM:614959 ORPHA:361 OMIM:616034 OMIM:619272 OMIM:618278 ORPHA:95232 OMIM:616267 OMIM:603553 OMIM:301835 ORPHA:1187 OMIM:608033 ORPHA:496641 OMIM:604484 OMIM:618331
 

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