Human Phenotype Ontology 
Grandparent Node:
expand
Abnormal cerebellum morphology (HP:0001317)help
Grandparent Node:
expand
Abnormality of coordination (HP:0011443)help
Parent Node:
expand
Ataxia (HP:0001251)help
..Starting node
..expand
Truncal ataxia (HP:0002078)help
Term ID: 2078
Name: Truncal ataxia
Synonym: Instability or lack of coordination of central trunk muscles; Trunk ataxia
Definition: Truncal ataxia is a sign of ataxia characterized by instability of the trunk. It usually occurs during sitting.
Comments:
Reference: HP:0002078
Genes and Diseases:
 
       Child Nodes:
........expandProgressive truncal ataxia (HP:0007221) help

 Sister Nodes: 
..expandCerebellar ataxia associated with quadrupedal gait (HP:0009878) help
..expandDysdiadochokinesis (HP:0002075) help
..expandDysmetria (HP:0001310) help
..expandDyssynergia (HP:0010867) help
..expandEpisodic ataxia (HP:0002131) help
..expandGait ataxia (HP:0002066) help
..expandLimb ataxia (HP:0002070) help
..expandNonprogressive cerebellar ataxia (HP:0002470) help
..expandProgressive cerebellar ataxia (HP:0002073) help
..expandSpastic ataxia (HP:0002497) 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:0002078HP:0002078Truncal ataxia0ABCD1 CL E G H21561OMIM:300100Adrenoleukodystrophy.135
HP:0002078HP:0002078Truncal ataxia0ADGRG1 CL E G H92894512OMIM:606854Polymicrogyria, bilateral frontoparietal88
HP:0002078HP:0002078Truncal ataxia0ANO10 CL E G H5512925519ORPHA:284289Adult-onset autosomal recessive cerebellar ataxiaHP:0040282 - Frequent64
HP:0002078HP:0002078Truncal ataxia0ANO10 CL E G H5512925519OMIM:613728Spinocerebellar ataxia, autosomal recessive 10.64
HP:0002078HP:0002078Truncal ataxia0AP2M1 CL E G H1173564OMIM:618587INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 60, WITH SEIZURES; MRD60
HP:0002078HP:0002078Truncal ataxia0APTX CL E G H5484015984OMIM:208920Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia.61
HP:0002078HP:0002078Truncal ataxia0ATCAY CL E G H85300779ORPHA:94122Cerebellar ataxia, Cayman typeHP:0040282 - Frequent72
HP:0002078HP:0002078Truncal ataxia0ATCAY CL E G H85300779OMIM:601238Cerebellar ataxia, Cayman type72
HP:0002078HP:0002078Truncal ataxia0ATG5 CL E G H9474589OMIM:617584Spinocerebellar ataxia, autosomal recessive 25.1
HP:0002078HP:0002078Truncal ataxia0ATN1 CL E G H18223033ORPHA:101Dentatorubral pallidoluysian atrophyHP:0040282 - Frequent16
HP:0002078HP:0002078Truncal ataxia0ATP1A3 CL E G H478801OMIM:601338Cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss.150
HP:0002078HP:0002078Truncal ataxia0ATP2B3 CL E G H492816ORPHA:314978X-linked non progressive cerebellar ataxiaHP:0040282 - Frequent19
HP:0002078HP:0002078Truncal ataxia0ATP8A2 CL E G H5176113533OMIM:615268Cerebellar ataxia, mental retardation, and dysequilibrium syndrome4.24
HP:0002078HP:0002078Truncal ataxia0ATXN1 CL E G H631010548OMIM:164400Spinocerebellar ataxia 1.19
HP:0002078HP:0002078Truncal ataxia0ATXN3 CL E G H42877106OMIM:109150Machado-Joseph disease.14
HP:0002078HP:0002078Truncal ataxia0CACNB4 CL E G H7851404OMIM:607682Epilepsy, idiopathic generalized, susceptibility to, 9146
HP:0002078HP:0002078Truncal ataxia0CACNB4 CL E G H7851404ORPHA:211067Episodic ataxia type 5HP:0040282 - Frequent146
HP:0002078HP:0002078Truncal ataxia0CACNB4 CL E G H7851404OMIM:613855Episodic ataxia, type 5146
HP:0002078HP:0002078Truncal ataxia0CEP120 CL E G H15324126690OMIM:617761Joubert syndrome 31.7
HP:0002078HP:0002078Truncal ataxia0CERS1 CL E G H1071514253OMIM:616230Epilepsy, progressive myoclonic, 81
HP:0002078HP:0002078Truncal ataxia0CLN5 CL E G H12032076ORPHA:228360CLN5 diseaseHP:0040282 - Frequent141
HP:0002078HP:0002078Truncal ataxia0COG5 CL E G H1046614857ORPHA:263487COG5-CDGHP:0040283 - Occasional79
HP:0002078HP:0002078Truncal ataxia0COG5 CL E G H1046614857OMIM:613612CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIi; CDG2I79
HP:0002078HP:0002078Truncal ataxia0COX6B1 CL E G H13402280OMIM:619051MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 7; MC4DN710
HP:0002078HP:0002078Truncal ataxia0CWF19L1 CL E G H5528025613ORPHA:453521Autosomal recessive cerebellar ataxia due to CWF19L1 deficiencyHP:0040282 - Frequent9
HP:0002078HP:0002078Truncal ataxia0CWF19L1 CL E G H5528025613OMIM:616127Spinocerebellar ataxia, autosomal recessive 17.9
HP:0002078HP:0002078Truncal ataxia0CYP7B1 CL E G H94202652ORPHA:100986Autosomal recessive spastic paraplegia type 5AHP:0040283 - Occasional57
HP:0002078HP:0002078Truncal ataxia0DAB1 CL E G H16002661ORPHA:363710Spinocerebellar ataxia type 37HP:0040282 - Frequent4
HP:0002078HP:0002078Truncal ataxia0DARS2 CL E G H5515725538ORPHA:137898Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndromeHP:0040284 - Very rare60
HP:0002078HP:0002078Truncal ataxia0DOHH CL E G H8347528662OMIM:620066
HP:0002078HP:0002078Truncal ataxia0EBF3 CL E G H25373819087OMIM:617330HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME; HADDS25
HP:0002078HP:0002078Truncal ataxia0EEF2 CL E G H19383214OMIM:609306Spinocerebellar ataxia 26.4
HP:0002078HP:0002078Truncal ataxia0EEF2 CL E G H19383214ORPHA:101112Spinocerebellar ataxia type 26HP:0040282 - Frequent4
HP:0002078HP:0002078Truncal ataxia0EIF2AK2 CL E G H56109437OMIM:618877LEUKOENCEPHALOPATHY, DEVELOPMENTAL DELAY, AND EPISODIC NEUROLOGIC REGRESSION SYNDROME; LEUDEN
HP:0002078HP:0002078Truncal ataxia0FGF14 CL E G H22593671ORPHA:98764Spinocerebellar ataxia type 27HP:0040282 - Frequent47
HP:0002078HP:0002078Truncal ataxia0GBA2 CL E G H5770418986ORPHA:352641Autosomal recessive cerebellar ataxia with late-onset spasticityHP:0040284 - Very rare30
HP:0002078HP:0002078Truncal ataxia0GBA2 CL E G H5770418986ORPHA:320391Autosomal recessive spastic paraplegia type 46HP:0040283 - Occasional30
HP:0002078HP:0002078Truncal ataxia0GRID2 CL E G H28954576ORPHA:363432Autosomal recessive congenital cerebellar ataxia due to GRID2 deficiencyHP:0040281 - Very frequent18
HP:0002078HP:0002078Truncal ataxia0GRID2 CL E G H28954576OMIM:616204SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 18; SCAR1818
HP:0002078HP:0002078Truncal ataxia0HARS1 CL E G H30354816OMIM:614504Usher syndrome, type IIIB.
HP:0002078HP:0002078Truncal ataxia0HIBCH CL E G H262754908ORPHA:88639Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiencyHP:0040282 - Frequent32
HP:0002078HP:0002078Truncal ataxia0ITPR1 CL E G H37086180OMIM:606658Spinocerebellar ataxia 15.177
HP:0002078HP:0002078Truncal ataxia0KCND3 CL E G H37526239OMIM:607346Spinocerebellar ataxia 19.35
HP:0002078HP:0002078Truncal ataxia0KCND3 CL E G H37526239ORPHA:98772Spinocerebellar ataxia type 19/22HP:0040282 - Frequent35
HP:0002078HP:0002078Truncal ataxia0KCTD7 CL E G H15488121957OMIM:611726Epilepsy, progressive myoclonic 3, with or without intracellular inclusions106
HP:0002078HP:0002078Truncal ataxia0KCTD7 CL E G H15488121957ORPHA:263516Progressive myoclonic epilepsy type 3106
HP:0002078HP:0002078Truncal ataxia0MECP2 CL E G H42046990OMIM:312750Rett syndrome.950
HP:0002078HP:0002078Truncal ataxia0MSTO1 CL E G H5515429678OMIM:617675Myopathy, mitochondrial, and ataxia.
HP:0002078HP:0002078Truncal ataxia0NAT8L CL E G H33998326742OMIM:614063N-ACETYLASPARTATE DEFICIENCY.1
HP:0002078HP:0002078Truncal ataxia0NKX6-2 CL E G H8450419321OMIM:617560Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy.2
HP:0002078HP:0002078Truncal ataxia0NOP56 CL E G H1052815911OMIM:614153Spinocerebellar ataxia 369
HP:0002078HP:0002078Truncal ataxia0NOP56 CL E G H1052815911ORPHA:276198Spinocerebellar ataxia type 36HP:0040281 - Very frequent9
HP:0002078HP:0002078Truncal ataxia0OPA1 CL E G H49768140OMIM:210000Behr syndrome214
HP:0002078HP:0002078Truncal ataxia0PEX10 CL E G H51928851ORPHA:247815Autosomal recessive ataxia due to PEX10 deficiencyHP:0040282 - Frequent75
HP:0002078HP:0002078Truncal ataxia0PIGA CL E G H52778957OMIM:301072NEURODEVELOPMENTAL DISORDER WITH EPILEPSY AND HEMOCHROMATOSIS; NEDEPH46
HP:0002078HP:0002078Truncal ataxia0POLG CL E G H54289179OMIM:258450Progressive external ophthalmoplegia with mitochondrial DNA deletions,autosomal recessive464
HP:0002078HP:0002078Truncal ataxia0POLR3A CL E G H1112830074ORPHA:3455Wiedemann-Rautenstrauch syndromeHP:0040282 - Frequent138
HP:0002078HP:0002078Truncal ataxia0POLR3A CL E G H1112830074OMIM:264090Wiedemann-Rautenstrauch syndrome.138
HP:0002078HP:0002078Truncal ataxia0PPP1R15B CL E G H8491914951OMIM:616817Microcephaly, short stature, and impaired glucose metabolism 2HP:0040283 - Occasional2
HP:0002078HP:0002078Truncal ataxia0PRNP CL E G H56219449OMIM:137440Gerstmann-Straussler disease.69
HP:0002078HP:0002078Truncal ataxia0SACS CL E G H2627810519OMIM:270550Spastic ataxia, Charlevoix-Saguenay type309
HP:0002078HP:0002078Truncal ataxia0SDHA CL E G H638910680OMIM:252011Mitochondrial complex II deficiency304
HP:0002078HP:0002078Truncal ataxia0SDHA CL E G H638910680OMIM:619259NEURODEGENERATION WITH ATAXIA AND LATE-ONSET OPTIC ATROPHY; NDAXOA304
HP:0002078HP:0002078Truncal ataxia0SHMT2 CL E G H647210852OMIM:619121NEURODEVELOPMENTAL DISORDER WITH CARDIOMYOPATHY, SPASTICITY, AND BRAIN ABNORMALITIES; NEDCASB
HP:0002078HP:0002078Truncal ataxia0SLC1A3 CL E G H650710941OMIM:612656Episodic ataxia, type 6.63
HP:0002078HP:0002078Truncal ataxia0SLC30A10 CL E G H5553225355ORPHA:309854Cirrhosis-dystonia-polycythemia-hypermanganesemia syndromeHP:0040283 - Occasional42
HP:0002078HP:0002078Truncal ataxia0SLC9A6 CL E G H1047911079ORPHA:85278Christianson syndromeHP:0040281 - Very frequent93
HP:0002078HP:0002078Truncal ataxia0SLC9A6 CL E G H1047911079OMIM:300243Mental retardation, x-linked syndromic, Christianson type.93
HP:0002078HP:0002078Truncal ataxia0SPTBN2 CL E G H671211276ORPHA:352403Spectrin-associated autosomal recessive cerebellar ataxiaHP:0040282 - Frequent126
HP:0002078HP:0002078Truncal ataxia0STUB1 CL E G H1027311427ORPHA:412057Autosomal recessive cerebellar ataxia due to STUB1 deficiencyHP:0040281 - Very frequent14
HP:0002078HP:0002078Truncal ataxia0STUB1 CL E G H1027311427OMIM:615768Spinocerebellar ataxia, autosomal recessive 1614
HP:0002078HP:0002078Truncal ataxia0SURF1 CL E G H683411474OMIM:220110Mitochondrial complex IV deficiency73
HP:0002078HP:0002078Truncal ataxia0SYT14 CL E G H25592823143ORPHA:284271Autosomal recessive cerebellar ataxia-psychomotor delay syndromeHP:0040281 - Very frequent4
HP:0002078HP:0002078Truncal ataxia0SYT14 CL E G H25592823143OMIM:614229Spinocerebellar ataxia, autosomal recessive 11.4
HP:0002078HP:0002078Truncal ataxia0TPK1 CL E G H2701017358OMIM:614458Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type)21
HP:0002078HP:0002078Truncal ataxia0TRAPPC11 CL E G H6068425751ORPHA:369847Intellectual disability-hyperkinetic movement-truncal ataxia syndromeHP:0040282 - Frequent27
HP:0002078HP:0002078Truncal ataxia0TRAPPC11 CL E G H6068425751ORPHA:369840TRAPPC11-related limb-girdle muscular dystrophy R18HP:0040283 - Occasional27
HP:0002078HP:0002078Truncal ataxia0TRNN CL E G H45707493OMIM:220110Mitochondrial complex IV deficiency
HP:0002078HP:0002078Truncal ataxia0TRNS1 CL E G H45747497OMIM:220110Mitochondrial complex IV deficiency
HP:0002078HP:0002078Truncal ataxia0UROC1 CL E G H13166926444OMIM:276880Urocanase deficiency8
HP:0002078HP:0002078Truncal ataxia0UROC1 CL E G H13166926444ORPHA:210128Urocanic aciduriaHP:0040281 - Very frequent8
HP:0002078HP:0002078Truncal ataxia0VLDLR CL E G H743612698OMIM:224050Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 1.111
HP:0002078HP:0002078Truncal ataxia0VPS13D CL E G H5518723595ORPHA:95434Autosomal recessive cerebellar ataxia-movement disorder syndromeHP:0040281 - Very frequent
HP:0002078HP:0002078Truncal ataxia0VPS41 CL E G H2707212713ORPHA:95434Autosomal recessive cerebellar ataxia-movement disorder syndromeHP:0040281 - Very frequent
HP:0002078HP:0002078Truncal ataxia0VWA3B CL E G H20040328385OMIM:616948Spinocerebellar ataxia, autosomal recessive 221
HP:0002078HP:0002078Truncal ataxia0WDR81 CL E G H12499726600OMIM:610185Cerebellar ataxia, mental retardation, and dysequilibrium syndrome2.27
HP:0002078HP:0007221Progressive truncal ataxia1KCTD7 CL E G H15488121957ORPHA:263516Progressive myoclonic epilepsy type 3HP:0040282 - Frequent106
HP:0002078HP:0007221Progressive truncal ataxia1SACS CL E G H2627810519OMIM:270550Spastic ataxia, Charlevoix-Saguenay type.309


Genes (67) :ABCD1 ADGRG1 ANO10 AP2M1 APTX ATCAY ATG5 ATN1 ATP1A3 ATP2B3 ATP8A2 ATXN1 ATXN3 CACNB4 CEP120 CERS1 CLN5 COG5 COX6B1 CWF19L1 CYP7B1 DAB1 DARS2 DOHH EBF3 EEF2 EIF2AK2 FGF14 GBA2 GRID2 HARS1 HIBCH ITPR1 KCND3 KCTD7 MECP2 MSTO1 NAT8L NKX6-2 NOP56 OPA1 PEX10 PIGA POLG POLR3A PPP1R15B PRNP SACS SDHA SHMT2 SLC1A3 SLC30A10 SLC9A6 SPTBN2 STUB1 SURF1 SYT14 TPK1 TRAPPC11 TRNN TRNS1 UROC1 VLDLR VPS13D VPS41 VWA3B WDR81

Diseases (83) :OMIM:300100 OMIM:606854 ORPHA:284289 OMIM:613728 OMIM:618587 OMIM:208920 ORPHA:94122 OMIM:601238 OMIM:617584 ORPHA:101 OMIM:601338 ORPHA:314978 OMIM:615268 OMIM:164400 OMIM:109150 OMIM:607682 ORPHA:211067 OMIM:613855 OMIM:617761 OMIM:616230 ORPHA:228360 ORPHA:263487 OMIM:613612 OMIM:619051 ORPHA:453521 OMIM:616127 ORPHA:100986 ORPHA:363710 ORPHA:137898 OMIM:620066 OMIM:617330 OMIM:609306 ORPHA:101112 OMIM:618877 ORPHA:98764 ORPHA:352641 ORPHA:320391 ORPHA:363432 OMIM:616204 OMIM:614504 ORPHA:88639 OMIM:606658 OMIM:607346 ORPHA:98772 OMIM:611726 ORPHA:263516 OMIM:312750 OMIM:617675 OMIM:614063 OMIM:617560 OMIM:614153 ORPHA:276198 OMIM:210000 ORPHA:247815 OMIM:301072 OMIM:258450 ORPHA:3455 OMIM:264090 OMIM:616817 OMIM:137440 OMIM:270550 OMIM:252011 OMIM:619259 OMIM:619121 OMIM:612656 ORPHA:309854 ORPHA:85278 OMIM:300243 ORPHA:352403 ORPHA:412057 OMIM:615768 OMIM:220110 ORPHA:284271 OMIM:614229 OMIM:614458 ORPHA:369847 ORPHA:369840 OMIM:276880 ORPHA:210128 OMIM:224050 ORPHA:95434 OMIM:616948 OMIM:610185
 

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