Human Phenotype Ontology 
Grandparent Node:
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Abnormal cerebellum morphology (HP:0001317)help
Grandparent Node:
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Abnormality of coordination (HP:0011443)help
Parent Node:
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Ataxia (HP:0001251)help
..Starting node
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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 entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
HP:0002078HP:0002078Truncal ataxia0ABCD1 CL E G H215300100Adrenoleukodystrophy300100C0162309OMIM166970961300371
HP:0002078HP:0002078Truncal ataxia0ANO10 CL E G H55129284289ORPHA11915325519613726
HP:0002078HP:0002078Truncal ataxia0ANO10 CL E G H55129613728Spinocerebellar ataxia, autosomal recessive 10613728C3150998OMIM11915325519613726
HP:0002078HP:0002078Truncal ataxia0APTX CL E G H54840208920Ataxia-oculomotor apraxia type 1208920C1859598OMIM14617915984606350
HP:0002078HP:0002078Truncal ataxia0ATCAY CL E G H8530094122ORPHA13172779608179
HP:0002078HP:0002078Truncal ataxia0ATG5 CL E G H9474617584SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 25617584C4539808OMIM1531589604261
HP:0002078HP:0002078Truncal ataxia0ATN1 CL E G H1822101ORPHA15743033607462
HP:0002078HP:0002078Truncal ataxia0ATP1A3 CL E G H478601338Cerebellar ataxia, areflexia, pes cavus, optic atrophy and sensorinural hearing loss601338C1832466OMIM1122407801182350
HP:0002078HP:0002078Truncal ataxia0ATP2B3 CL E G H492314978ORPHA17275816300014
HP:0002078HP:0002078Truncal ataxia0ATP8A2 CL E G H51761615268Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 4615268C3808977OMIM1119113533605870
HP:0002078HP:0002078Truncal ataxia0ATXN1 CL E G H6310164400Spinocerebellar ataxia 1164400C0752120OMIM176910548601556
HP:0002078HP:0002078Truncal ataxia0ATXN3 CL E G H4287109150Azorean disease109150C0024408OMIM13347106607047
HP:0002078HP:0002078Truncal ataxia0CACNB4 CL E G H785211067ORPHA172621404601949
HP:0002078HP:0002078Truncal ataxia0CEP120 CL E G H153241617761JOUBERT SYNDROME 31617761C4540355OMIM198726690613446
HP:0002078HP:0002078Truncal ataxia0COG5 CL E G H10466613612Congenital disorder of glycosylation type 2i613612C3150876OMIM11321914857606821
HP:0002078HP:0002078Truncal ataxia0CWF19L1 CL E G H55280453521ORPHA155325613616120
HP:0002078HP:0002078Truncal ataxia0CWF19L1 CL E G H55280616127Spinocerebellar ataxia, autosomal recessive 17616127C4015301OMIM155325613616120
HP:0002078HP:0002078Truncal ataxia0DAB1 CL E G H1600363710ORPHA12482661603448
HP:0002078HP:0002078Truncal ataxia0EEF2 CL E G H1938101112ORPHA141053214130610
HP:0002078HP:0002078Truncal ataxia0EEF2 CL E G H1938609306Spinocerebellar ataxia 26609306C1836395OMIM141053214130610
HP:0002078HP:0002078Truncal ataxia0FGF14 CL E G H225998764ORPHA1101633671601515
HP:0002078HP:0002078Truncal ataxia0FGF14 CL E G H2259609307Spinocerebellar ataxia 27609307C1836383OMIM1101633671601515
HP:0002078HP:0002078Truncal ataxia0GRID2 CL E G H2895363432ORPHA1211074576602368
HP:0002078HP:0002078Truncal ataxia0GRID2 CL E G H2895616204Spinocerebellar ataxia, autosomal recessive 18616204C4015505OMIM1211074576602368
HP:0002078HP:0002078Truncal ataxia0HARS CL E G H3035614504Usher syndrome, type 3B614504C3281066OMIM1134816142810
HP:0002078HP:0002078Truncal ataxia0ITPR1 CL E G H3708606658Spinocerebellar ataxia 15606658C1847725OMIM1955016180147265
HP:0002078HP:0002078Truncal ataxia0KCND3 CL E G H375298772ORPHA1291686239605411
HP:0002078HP:0002078Truncal ataxia0KCND3 CL E G H3752607346Spinocerebellar ataxia 19607346C1846367OMIM1291686239605411
HP:0002078HP:0002078Truncal ataxia0KCTD7 CL E G H154881611726Epilepsy, progressive myoclonic 3611726C2673257OMIM12124821957611725
HP:0002078HP:0002078Truncal ataxia0MECP2 CL E G H4204312750Rett syndrome312750C0035372OMIM1105014426990300005
HP:0002078HP:0002078Truncal ataxia0MSTO1 CL E G H55154617675MYOPATHY, MITOCHONDRIAL, AND ATAXIA617675C4540096OMIM183529678617619
HP:0002078HP:0002078Truncal ataxia0NAT8L CL E G H339983614063N-acetylaspartate deficiency614063C3279716OMIM1113926742610647
HP:0002078HP:0002078Truncal ataxia0NKX6-2 CL E G H84504617560SPASTIC ATAXIA 8, AUTOSOMAL RECESSIVE, WITH HYPOMYELINATING LEUKODYSTROPHY617560C4479653OMIM1910419321605955
HP:0002078HP:0002078Truncal ataxia0NOP56 CL E G H10528276198ORPHA114115911614154
HP:0002078HP:0002078Truncal ataxia0PEX10 CL E G H5192247815ORPHA1323478851602859
HP:0002078HP:0002078Truncal ataxia0POLR3A CL E G H11128264090Neonatal pseudo-hydrocephalic progeroid syndrome264090C0406586OMIM19230630074614258
HP:0002078HP:0002078Truncal ataxia0PRNP CL E G H5621137440Gerstmann-Straussler-Scheinker syndrome137440C0017495OMIM11091269449176640
HP:0002078HP:0002078Truncal ataxia0SLC1A3 CL E G H6507612656Episodic ataxia, type 6612656C2675211OMIM11814510941600111
HP:0002078HP:0002078Truncal ataxia0SLC9A6 CL E G H1047985278ORPHA12835111079300231
HP:0002078HP:0002078Truncal ataxia0SLC9A6 CL E G H10479300243Christianson syndrome300243C2678194OMIM12835111079300231
HP:0002078HP:0002078Truncal ataxia0SPTBN2 CL E G H6712352403ORPHA12935911276604985
HP:0002078HP:0002078Truncal ataxia0STUB1 CL E G H10273412057ORPHA13110511427607207
HP:0002078HP:0002078Truncal ataxia0STUB1 CL E G H10273615768Spinocerebellar ataxia, autosomal recessive 16615768C4014261OMIM13110511427607207
HP:0002078HP:0002078Truncal ataxia0SYT14 CL E G H255928284271ORPHA135623143610949
HP:0002078HP:0002078Truncal ataxia0SYT14 CL E G H255928614229Spinocerebellar ataxia, autosomal recessive 11614229C3280226OMIM135623143610949
HP:0002078HP:0002078Truncal ataxia0TRAPPC11 CL E G H60684369847ORPHA11735125751614138
HP:0002078HP:0002078Truncal ataxia0UROC1 CL E G H131669210128ORPHA136826444613012
HP:0002078HP:0002078Truncal ataxia0VLDLR CL E G H7436224050Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 1224050CN074243OMIM12837412698192977
HP:0002078HP:0002078Truncal ataxia0VWA3B CL E G H200403616948Spinocerebellar ataxia, autosomal recessive 22616948C4310781OMIM144928385614884
HP:0002078HP:0002078Truncal ataxia0WDR81 CL E G H124997610185Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2610185C2750234OMIM11721126600614218
HP:0002078HP:0002078Truncal ataxia1ABCD1 CL E G H215300100Adrenoleukodystrophy300100C0162309OMIM166970961300371
HP:0002078HP:0002078Truncal ataxia1ANO10 CL E G H55129284289ORPHA11915325519613726
HP:0002078HP:0002078Truncal ataxia1ANO10 CL E G H55129613728Spinocerebellar ataxia, autosomal recessive 10613728C3150998OMIM11915325519613726
HP:0002078HP:0002078Truncal ataxia1APTX CL E G H54840208920Ataxia-oculomotor apraxia type 1208920C1859598OMIM14617915984606350
HP:0002078HP:0002078Truncal ataxia1ATCAY CL E G H8530094122ORPHA13172779608179
HP:0002078HP:0002078Truncal ataxia1ATG5 CL E G H9474617584SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 25617584C4539808OMIM1531589604261
HP:0002078HP:0002078Truncal ataxia1ATN1 CL E G H1822101ORPHA15743033607462
HP:0002078HP:0002078Truncal ataxia1ATP1A3 CL E G H478601338Cerebellar ataxia, areflexia, pes cavus, optic atrophy and sensorinural hearing loss601338C1832466OMIM1122407801182350
HP:0002078HP:0002078Truncal ataxia1ATP2B3 CL E G H492314978ORPHA17275816300014
HP:0002078HP:0002078Truncal ataxia1ATP8A2 CL E G H51761615268Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 4615268C3808977OMIM1119113533605870
HP:0002078HP:0002078Truncal ataxia1ATXN1 CL E G H6310164400Spinocerebellar ataxia 1164400C0752120OMIM176910548601556
HP:0002078HP:0002078Truncal ataxia1ATXN3 CL E G H4287109150Azorean disease109150C0024408OMIM13347106607047
HP:0002078HP:0002078Truncal ataxia1CACNB4 CL E G H785211067ORPHA172621404601949
HP:0002078HP:0002078Truncal ataxia1CEP120 CL E G H153241617761JOUBERT SYNDROME 31617761C4540355OMIM198726690613446
HP:0002078HP:0002078Truncal ataxia1COG5 CL E G H10466613612Congenital disorder of glycosylation type 2i613612C3150876OMIM11321914857606821
HP:0002078HP:0002078Truncal ataxia1CWF19L1 CL E G H55280453521ORPHA155325613616120
HP:0002078HP:0002078Truncal ataxia1CWF19L1 CL E G H55280616127Spinocerebellar ataxia, autosomal recessive 17616127C4015301OMIM155325613616120
HP:0002078HP:0002078Truncal ataxia1DAB1 CL E G H1600363710ORPHA12482661603448
HP:0002078HP:0002078Truncal ataxia1EEF2 CL E G H1938101112ORPHA141053214130610
HP:0002078HP:0002078Truncal ataxia1EEF2 CL E G H1938609306Spinocerebellar ataxia 26609306C1836395OMIM141053214130610
HP:0002078HP:0002078Truncal ataxia1FGF14 CL E G H225998764ORPHA1101633671601515
HP:0002078HP:0002078Truncal ataxia1FGF14 CL E G H2259609307Spinocerebellar ataxia 27609307C1836383OMIM1101633671601515
HP:0002078HP:0002078Truncal ataxia1GRID2 CL E G H2895363432ORPHA1211074576602368
HP:0002078HP:0002078Truncal ataxia1GRID2 CL E G H2895616204Spinocerebellar ataxia, autosomal recessive 18616204C4015505OMIM1211074576602368
HP:0002078HP:0002078Truncal ataxia1HARS CL E G H3035614504Usher syndrome, type 3B614504C3281066OMIM1134816142810
HP:0002078HP:0002078Truncal ataxia1ITPR1 CL E G H3708606658Spinocerebellar ataxia 15606658C1847725OMIM1955016180147265
HP:0002078HP:0002078Truncal ataxia1KCND3 CL E G H375298772ORPHA1291686239605411
HP:0002078HP:0002078Truncal ataxia1KCND3 CL E G H3752607346Spinocerebellar ataxia 19607346C1846367OMIM1291686239605411
HP:0002078HP:0002078Truncal ataxia1KCTD7 CL E G H154881611726Epilepsy, progressive myoclonic 3611726C2673257OMIM12124821957611725
HP:0002078HP:0002078Truncal ataxia1MECP2 CL E G H4204312750Rett syndrome312750C0035372OMIM1105014426990300005
HP:0002078HP:0002078Truncal ataxia1MSTO1 CL E G H55154617675MYOPATHY, MITOCHONDRIAL, AND ATAXIA617675C4540096OMIM183529678617619
HP:0002078HP:0002078Truncal ataxia1NAT8L CL E G H339983614063N-acetylaspartate deficiency614063C3279716OMIM1113926742610647
HP:0002078HP:0002078Truncal ataxia1NKX6-2 CL E G H84504617560SPASTIC ATAXIA 8, AUTOSOMAL RECESSIVE, WITH HYPOMYELINATING LEUKODYSTROPHY617560C4479653OMIM1910419321605955
HP:0002078HP:0002078Truncal ataxia1NOP56 CL E G H10528276198ORPHA114115911614154
HP:0002078HP:0002078Truncal ataxia1PEX10 CL E G H5192247815ORPHA1323478851602859
HP:0002078HP:0002078Truncal ataxia1POLR3A CL E G H11128264090Neonatal pseudo-hydrocephalic progeroid syndrome264090C0406586OMIM19230630074614258
HP:0002078HP:0002078Truncal ataxia1PRNP CL E G H5621137440Gerstmann-Straussler-Scheinker syndrome137440C0017495OMIM11091269449176640
HP:0002078HP:0002078Truncal ataxia1SLC1A3 CL E G H6507612656Episodic ataxia, type 6612656C2675211OMIM11814510941600111
HP:0002078HP:0002078Truncal ataxia1SLC9A6 CL E G H1047985278ORPHA12835111079300231
HP:0002078HP:0002078Truncal ataxia1SLC9A6 CL E G H10479300243Christianson syndrome300243C2678194OMIM12835111079300231
HP:0002078HP:0002078Truncal ataxia1SPTBN2 CL E G H6712352403ORPHA12935911276604985
HP:0002078HP:0002078Truncal ataxia1STUB1 CL E G H10273412057ORPHA13110511427607207
HP:0002078HP:0002078Truncal ataxia1STUB1 CL E G H10273615768Spinocerebellar ataxia, autosomal recessive 16615768C4014261OMIM13110511427607207
HP:0002078HP:0002078Truncal ataxia1SYT14 CL E G H255928284271ORPHA135623143610949
HP:0002078HP:0002078Truncal ataxia1SYT14 CL E G H255928614229Spinocerebellar ataxia, autosomal recessive 11614229C3280226OMIM135623143610949
HP:0002078HP:0002078Truncal ataxia1TRAPPC11 CL E G H60684369847ORPHA11735125751614138
HP:0002078HP:0002078Truncal ataxia1UROC1 CL E G H131669210128ORPHA136826444613012
HP:0002078HP:0002078Truncal ataxia1VLDLR CL E G H7436224050Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 1224050CN074243OMIM12837412698192977
HP:0002078HP:0002078Truncal ataxia1VWA3B CL E G H200403616948Spinocerebellar ataxia, autosomal recessive 22616948C4310781OMIM144928385614884
HP:0002078HP:0002078Truncal ataxia1WDR81 CL E G H124997610185Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2610185C2750234OMIM11721126600614218
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0002078HP:0002078Truncal ataxia0ADGRG1 CL E G H9289606854Polymicrogyria, bilateral frontoparietal606854C1847352OMIM0362774512604110
HP:0002078HP:0002078Truncal ataxia0CYP7B1 CL E G H9420100986ORPHA0631992652603711
HP:0002078HP:0002078Truncal ataxia0GBA2 CL E G H57704320391ORPHA02319418986609471
HP:0002078HP:0002078Truncal ataxia0GBA2 CL E G H57704352641ORPHA02319418986609471
HP:0002078HP:0002078Truncal ataxia0NOP56 CL E G H10528614153Spinocerebellar ataxia 36614153C3472711OMIM014115911614154
HP:0002078HP:0002078Truncal ataxia0PPP1R15B CL E G H84919616817Microcephaly, short stature, and impaired glucose metabolism 2616817C4225195OMIM053414951613257
HP:0002078HP:0002078Truncal ataxia0SLC30A10 CL E G H55532309854ORPHA0229225355611146
HP:0002078HP:0002078Truncal ataxia0TRAPPC11 CL E G H60684369840ORPHA01735125751614138
HP:0002078HP:0002078Truncal ataxia1ADGRG1 CL E G H9289606854Polymicrogyria, bilateral frontoparietal606854C1847352OMIM0362774512604110
HP:0002078HP:0002078Truncal ataxia1CYP7B1 CL E G H9420100986ORPHA0631992652603711
HP:0002078HP:0002078Truncal ataxia1GBA2 CL E G H57704320391ORPHA02319418986609471
HP:0002078HP:0002078Truncal ataxia1GBA2 CL E G H57704352641ORPHA02319418986609471
HP:0002078HP:0002078Truncal ataxia1NOP56 CL E G H10528614153Spinocerebellar ataxia 36614153C3472711OMIM014115911614154
HP:0002078HP:0002078Truncal ataxia1PPP1R15B CL E G H84919616817Microcephaly, short stature, and impaired glucose metabolism 2616817C4225195OMIM053414951613257
HP:0002078HP:0002078Truncal ataxia1SLC30A10 CL E G H55532309854ORPHA0229225355611146
HP:0002078HP:0002078Truncal ataxia1TRAPPC11 CL E G H60684369840ORPHA01735125751614138


Genes (47) :ABCD1 ADGRG1 ANO10 APTX ATCAY ATG5 ATN1 ATP1A3 ATP2B3 ATP8A2 ATXN1 ATXN3 CACNB4 CEP120 COG5 CWF19L1 CYP7B1 DAB1 EEF2 FGF14 GBA2 GRID2 HARS ITPR1 KCND3 KCTD7 MECP2 MSTO1 NAT8L NKX6-2 NOP56 PEX10 POLR3A PPP1R15B PRNP SACS SLC1A3 SLC30A10 SLC9A6 SPTBN2 STUB1 SYT14 TRAPPC11 UROC1 VLDLR VWA3B WDR81

Diseases (60) :300100 606854 284289 613728 208920 94122 617584 101 601338 314978 615268 164400 109150 211067 617761 613612 453521 616127 100986 363710 101112 609306 98764 609307 320391 352641 363432 616204 614504 606658 98772 607346 611726 312750 617675 614063 617560 276198 614153 247815 264090 616817 137440 612656 309854 85278 300243 352403 412057 615768 284271 614229 369847 369840 210128 224050 616948 610185 263516 270550
 

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