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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Limb ataxia (HP:0002070)help
Term ID: 2070
Name: Limb ataxia
Synonym: Appendicular ataxia
Definition: A kind of ataxia that affects movements of the extremities.
Comments:
Reference: HP:0002070
Genes and Diseases:
 
       Child Nodes:

 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
..expandNonprogressive cerebellar ataxia (HP:0002470) help
..expandProgressive cerebellar ataxia (HP:0002073) help
..expandSpastic ataxia (HP:0002497) help
..expandTruncal ataxia (HP:0002078) 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:0002070HP:0002070Limb ataxia0ABCD1 CL E G H21561OMIM:300100Adrenoleukodystrophy.135
HP:0002070HP:0002070Limb ataxia0AFG3L2 CL E G H10939315OMIM:610246Spinocerebellar ataxia 28.86
HP:0002070HP:0002070Limb ataxia0AFG3L2 CL E G H10939315ORPHA:101109Spinocerebellar ataxia type 28HP:0040281 - Very frequent86
HP:0002070HP:0002070Limb ataxia0ANO10 CL E G H5512925519ORPHA:284289Adult-onset autosomal recessive cerebellar ataxiaHP:0040282 - Frequent64
HP:0002070HP:0002070Limb ataxia0ANO10 CL E G H5512925519OMIM:613728Spinocerebellar ataxia, autosomal recessive 10.64
HP:0002070HP:0002070Limb ataxia0APTX CL E G H5484015984OMIM:208920Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia.61
HP:0002070HP:0002070Limb ataxia0ATN1 CL E G H18223033ORPHA:101Dentatorubral pallidoluysian atrophyHP:0040282 - Frequent16
HP:0002070HP:0002070Limb ataxia0ATXN1 CL E G H631010548OMIM:164400Spinocerebellar ataxia 1.19
HP:0002070HP:0002070Limb ataxia0ATXN10 CL E G H2581410549OMIM:603516Spinocerebellar ataxia 10.9
HP:0002070HP:0002070Limb ataxia0ATXN2 CL E G H631110555OMIM:183090Spinocerebellar ataxia 2.11
HP:0002070HP:0002070Limb ataxia0ATXN3 CL E G H42877106OMIM:109150Machado-Joseph disease.14
HP:0002070HP:0002070Limb ataxia0ATXN8 CL E G H72406632925ORPHA:98760Spinocerebellar ataxia type 8HP:0040282 - Frequent1
HP:0002070HP:0002070Limb ataxia0ATXN8OS CL E G H631510561ORPHA:98760Spinocerebellar ataxia type 8HP:0040282 - Frequent1
HP:0002070HP:0002070Limb ataxia0BEAN1 CL E G H14622724160OMIM:117210Spinocerebellar ataxia 31.1
HP:0002070HP:0002070Limb ataxia0CAPN1 CL E G H8231476ORPHA:488594Autosomal recessive spastic paraplegia type 76HP:0040283 - Occasional4
HP:0002070HP:0002070Limb ataxia0CERS1 CL E G H1071514253OMIM:616230Epilepsy, progressive myoclonic, 81
HP:0002070HP:0002070Limb ataxia0CLCN2 CL E G H11812020OMIM:615651Leukoencephalopathy with ataxia.44
HP:0002070HP:0002070Limb ataxia0COQ2 CL E G H2723525223ORPHA:227510Multiple system atrophy, cerebellar typeHP:0040282 - Frequent54
HP:0002070HP:0002070Limb ataxia0COX6B1 CL E G H13402280OMIM:619051MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 7; MC4DN710
HP:0002070HP:0002070Limb ataxia0CP CL E G H13562295ORPHA:48818AceruloplasminemiaHP:0040282 - Frequent115
HP:0002070HP:0002070Limb ataxia0CSTB CL E G H14762482ORPHA:308Progressive myoclonic epilepsy type 1HP:0040281 - Very frequent51
HP:0002070HP:0002070Limb ataxia0CWF19L1 CL E G H5528025613OMIM:616127Spinocerebellar ataxia, autosomal recessive 179
HP:0002070HP:0002070Limb ataxia0CXCR4 CL E G H78522561ORPHA:51636WHIM syndromeHP:0040283 - Occasional9
HP:0002070HP:0002070Limb ataxia0CYP7B1 CL E G H94202652ORPHA:100986Autosomal recessive spastic paraplegia type 5AHP:0040283 - Occasional57
HP:0002070HP:0002070Limb ataxia0EEF2 CL E G H19383214OMIM:609306Spinocerebellar ataxia 26.4
HP:0002070HP:0002070Limb ataxia0EEF2 CL E G H19383214ORPHA:101112Spinocerebellar ataxia type 26HP:0040281 - Very frequent4
HP:0002070HP:0002070Limb ataxia0ELOVL4 CL E G H678514415OMIM:133190Spinocerebellar ataxia 34.62
HP:0002070HP:0002070Limb ataxia0ELOVL5 CL E G H6048121308OMIM:615957Spinocerebellar ataxia 38.4
HP:0002070HP:0002070Limb ataxia0FAT2 CL E G H21963596OMIM:617769Spinocerebellar ataxia 45.2
HP:0002070HP:0002070Limb ataxia0FGF12 CL E G H22573668OMIM:617166Epileptic encephalopathy, early infantile, 47.3
HP:0002070HP:0002070Limb ataxia0FGF14 CL E G H22593671OMIM:193003Nystagmus 4, congenital, autosomal dominant47
HP:0002070HP:0002070Limb ataxia0FGF14 CL E G H22593671ORPHA:98764Spinocerebellar ataxia type 27HP:0040282 - Frequent47
HP:0002070HP:0002070Limb ataxia0FXN CL E G H23953951ORPHA:95Friedreich ataxiaHP:0040281 - Very frequent18
HP:0002070HP:0002070Limb ataxia0FXN CL E G H23953951OMIM:229300Friedreich ataxia 1.18
HP:0002070HP:0002070Limb ataxia0GBA1 CL E G H26294177ORPHA:2072Gaucher disease-ophthalmoplegia-cardiovascular calcification syndromeHP:0040284 - Very rare
HP:0002070HP:0002070Limb ataxia0GJB1 CL E G H27054283ORPHA:1175X-linked progressive cerebellar ataxiaHP:0040282 - Frequent107
HP:0002070HP:0002070Limb ataxia0GRID2 CL E G H28954576ORPHA:363432Autosomal recessive congenital cerebellar ataxia due to GRID2 deficiencyHP:0040281 - Very frequent18
HP:0002070HP:0002070Limb ataxia0ITPR1 CL E G H37086180OMIM:606658Spinocerebellar ataxia 15.177
HP:0002070HP:0002070Limb ataxia0ITPR1 CL E G H37086180OMIM:117360Spinocerebellar ataxia 29.177
HP:0002070HP:0002070Limb ataxia0JAM2 CL E G H5849414686OMIM:618824BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 8, AUTOSOMAL RECESSIVE; IBGC8
HP:0002070HP:0002070Limb ataxia0KCNC3 CL E G H37486235OMIM:605259Spinocerebellar ataxia 13.17
HP:0002070HP:0002070Limb ataxia0KCNC3 CL E G H37486235ORPHA:98768Spinocerebellar ataxia type 13HP:0040282 - Frequent17
HP:0002070HP:0002070Limb ataxia0KCND3 CL E G H37526239OMIM:607346Spinocerebellar ataxia 19.35
HP:0002070HP:0002070Limb ataxia0KCND3 CL E G H37526239ORPHA:98772Spinocerebellar ataxia type 19/22HP:0040282 - Frequent35
HP:0002070HP:0002070Limb ataxia0MAN2B1 CL E G H41256826OMIM:248500Alpha-mannosidosis.136
HP:0002070HP:0002070Limb ataxia0MME CL E G H43117154OMIM:617018SPINOCEREBELLAR ATAXIA 43; SCA4318
HP:0002070HP:0002070Limb ataxia0MME CL E G H43117154ORPHA:497764Spinocerebellar ataxia type 43HP:0040282 - Frequent18
HP:0002070HP:0002070Limb ataxia0MPZ CL E G H43597225ORPHA:3115Roussy-Lévy syndromeHP:0040282 - Frequent134
HP:0002070HP:0002070Limb ataxia0MSTO1 CL E G H5515429678OMIM:617675Myopathy, mitochondrial, and ataxia.
HP:0002070HP:0002070Limb ataxia0NEFL CL E G H47477739ORPHA:101085Charcot-Marie-Tooth disease type 1FHP:0040282 - Frequent118
HP:0002070HP:0002070Limb ataxia0NKX6-2 CL E G H8450419321OMIM:617560Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy.2
HP:0002070HP:0002070Limb ataxia0NOP56 CL E G H1052815911OMIM:614153Spinocerebellar ataxia 369
HP:0002070HP:0002070Limb ataxia0NOP56 CL E G H1052815911ORPHA:276198Spinocerebellar ataxia type 36HP:0040281 - Very frequent9
HP:0002070HP:0002070Limb ataxia0PDYN CL E G H51738820OMIM:610245Spinocerebellar ataxia 23.52
HP:0002070HP:0002070Limb ataxia0PDYN CL E G H51738820ORPHA:101108Spinocerebellar ataxia type 23HP:0040281 - Very frequent52
HP:0002070HP:0002070Limb ataxia0PEX10 CL E G H51928851ORPHA:247815Autosomal recessive ataxia due to PEX10 deficiencyHP:0040282 - Frequent75
HP:0002070HP:0002070Limb ataxia0PEX10 CL E G H51928851OMIM:614871Peroxisome biogenesis disorder 6B75
HP:0002070HP:0002070Limb ataxia0PLD3 CL E G H2364617158OMIM:617770Spinocerebellar ataxia 46.2
HP:0002070HP:0002070Limb ataxia0PMP22 CL E G H53769118ORPHA:3115Roussy-Lévy syndromeHP:0040282 - Frequent79
HP:0002070HP:0002070Limb ataxia0PMPCA CL E G H2320318667OMIM:213200Spinocerebellar ataxia, autosomal recessive 2.7
HP:0002070HP:0002070Limb ataxia0POLG CL E G H54289179OMIM:258450Progressive external ophthalmoplegia with mitochondrial DNA deletions,autosomal recessive.464
HP:0002070HP:0002070Limb ataxia0PRDX3 CL E G H109359354OMIM:619862
HP:0002070HP:0002070Limb ataxia0PRICKLE1 CL E G H14416517019ORPHA:308Progressive myoclonic epilepsy type 1HP:0040281 - Very frequent133
HP:0002070HP:0002070Limb ataxia0PRKCG CL E G H55829402ORPHA:98763Spinocerebellar ataxia type 14HP:0040282 - Frequent83
HP:0002070HP:0002070Limb ataxia0PRNP CL E G H56219449OMIM:137440Gerstmann-Straussler disease.69
HP:0002070HP:0002070Limb ataxia0RFC1 CL E G H59819969OMIM:614575Cerebellar ataxia, neuropathy, and vestibular areflexia syndrome.
HP:0002070HP:0002070Limb ataxia0RTN2 CL E G H625310468ORPHA:100993Autosomal dominant spastic paraplegia type 12HP:0040282 - Frequent25
HP:0002070HP:0002070Limb ataxia0RUBCN CL E G H971128991ORPHA:404499Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to RUBCN deficiencyHP:0040281 - Very frequent9
HP:0002070HP:0002070Limb ataxia0SCARB2 CL E G H9501665ORPHA:308Progressive myoclonic epilepsy type 1HP:0040281 - Very frequent77
HP:0002070HP:0002070Limb ataxia0SCN1B CL E G H632410586OMIM:617350Epileptic encephalopathy, early infantile, 52.126
HP:0002070HP:0002070Limb ataxia0SDHA CL E G H638910680OMIM:619259NEURODEGENERATION WITH ATAXIA AND LATE-ONSET OPTIC ATROPHY; NDAXOA304
HP:0002070HP:0002070Limb ataxia0SETX CL E G H23064445OMIM:606002Spinocerebellar ataxia, autosomal recessive 1.162
HP:0002070HP:0002070Limb ataxia0SIL1 CL E G H6437424624OMIM:248800Marinesco-Sjogren syndrome.67
HP:0002070HP:0002070Limb ataxia0SLC30A9 CL E G H104631329OMIM:617595Birk-Landau-Perez syndrome1
HP:0002070HP:0002070Limb ataxia0SLC9A1 CL E G H654811071OMIM:616291Lichtenstein-Knorr syndrome.2
HP:0002070HP:0002070Limb ataxia0SPTBN2 CL E G H671211276OMIM:600224Spinocerebellar ataxia 5.126
HP:0002070HP:0002070Limb ataxia0SQSTM1 CL E G H887811280OMIM:617145Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset.62
HP:0002070HP:0002070Limb ataxia0STUB1 CL E G H1027311427ORPHA:412057Autosomal recessive cerebellar ataxia due to STUB1 deficiencyHP:0040281 - Very frequent14
HP:0002070HP:0002070Limb ataxia0STUB1 CL E G H1027311427OMIM:615768Spinocerebellar ataxia, autosomal recessive 1614
HP:0002070HP:0002070Limb ataxia0SYNE1 CL E G H2334517089OMIM:610743Spinocerebellar ataxia, autosomal recessive 8.1129
HP:0002070HP:0002070Limb ataxia0SYT14 CL E G H25592823143ORPHA:284271Autosomal recessive cerebellar ataxia-psychomotor delay syndromeHP:0040281 - Very frequent4
HP:0002070HP:0002070Limb ataxia0SYT14 CL E G H25592823143OMIM:614229Spinocerebellar ataxia, autosomal recessive 11.4
HP:0002070HP:0002070Limb ataxia0TBC1D23 CL E G H5577325622OMIM:617695Pontocerebellar hypoplasia, type 11.
HP:0002070HP:0002070Limb ataxia0TBC1D24 CL E G H5746529203OMIM:605021Myoclonic epilepsy, familial infantile271
HP:0002070HP:0002070Limb ataxia0TBP CL E G H690811588OMIM:607136Spinocerebellar ataxia 17.7
HP:0002070HP:0002070Limb ataxia0TGM6 CL E G H34364116255ORPHA:276193Spinocerebellar ataxia type 35HP:0040282 - Frequent58
HP:0002070HP:0002070Limb ataxia0TMEM240 CL E G H33945325186OMIM:607454Spinocerebellar ataxia 21.9
HP:0002070HP:0002070Limb ataxia0TPP1 CL E G H12002073ORPHA:284324Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxiaHP:0040282 - Frequent203
HP:0002070HP:0002070Limb ataxia0TPP1 CL E G H12002073OMIM:609270Spinocerebellar ataxia, autosomal recessive 7.203
HP:0002070HP:0002070Limb ataxia0UBA5 CL E G H7987623230OMIM:617133Spinocerebellar ataxia, autosomal recessive 24.13
HP:0002070HP:0002070Limb ataxia0UBAP1 CL E G H5127112461ORPHA:100993Autosomal dominant spastic paraplegia type 12HP:0040282 - Frequent
HP:0002070HP:0002070Limb ataxia0UBAP1 CL E G H5127112461OMIM:618418Spastic paraplegia 80, autosomal dominant
HP:0002070HP:0002070Limb ataxia0VAMP1 CL E G H684312642ORPHA:251282Autosomal dominant spastic ataxia type 1HP:0040282 - Frequent2
HP:0002070HP:0002070Limb ataxia0VPS13D CL E G H5518723595ORPHA:95434Autosomal recessive cerebellar ataxia-movement disorder syndromeHP:0040281 - Very frequent
HP:0002070HP:0002070Limb ataxia0VPS41 CL E G H2707212713ORPHA:95434Autosomal recessive cerebellar ataxia-movement disorder syndromeHP:0040281 - Very frequent
HP:0002070HP:0002070Limb ataxia0VRK1 CL E G H744312718OMIM:607596Pontocerebellar hypoplasia type 1A32
HP:0002070HP:0002070Limb ataxia0WASHC5 CL E G H989728984ORPHA:100989Autosomal dominant spastic paraplegia type 8HP:0040282 - Frequent83
HP:0002070HP:0002070Limb ataxia0WWOX CL E G H5174112799ORPHA:284282Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to WWOX deficiencyHP:0040281 - Very frequent149
HP:0002070HP:0002070Limb ataxia0WWOX CL E G H5174112799OMIM:614322Spinocerebellar ataxia, autosomal recessive 12.149
HP:0002070HP:0002070Limb ataxia0XRCC1 CL E G H751512828OMIM:617633Spinocerebellar ataxia, autosomal recessive 26.4


Genes (83) :ABCD1 AFG3L2 ANO10 APTX ATN1 ATXN1 ATXN10 ATXN2 ATXN3 ATXN8 ATXN8OS BEAN1 CAPN1 CERS1 CLCN2 COQ2 COX6B1 CP CSTB CWF19L1 CXCR4 CYP7B1 EEF2 ELOVL4 ELOVL5 FAT2 FGF12 FGF14 FXN GBA1 GJB1 GRID2 ITPR1 JAM2 KCNC3 KCND3 MAN2B1 MME MPZ MSTO1 NEFL NKX6-2 NOP56 PDYN PEX10 PLD3 PMP22 PMPCA POLG PRDX3 PRICKLE1 PRKCG PRNP RFC1 RTN2 RUBCN SCARB2 SCN1B SDHA SETX SIL1 SLC30A9 SLC9A1 SPTBN2 SQSTM1 STUB1 SYNE1 SYT14 TBC1D23 TBC1D24 TBP TGM6 TMEM240 TPP1 UBA5 UBAP1 VAMP1 VPS13D VPS41 VRK1 WASHC5 WWOX XRCC1

Diseases (94) :OMIM:300100 OMIM:610246 ORPHA:101109 ORPHA:284289 OMIM:613728 OMIM:208920 ORPHA:101 OMIM:164400 OMIM:603516 OMIM:183090 OMIM:109150 ORPHA:98760 OMIM:117210 ORPHA:488594 OMIM:616230 OMIM:615651 ORPHA:227510 OMIM:619051 ORPHA:48818 ORPHA:308 OMIM:616127 ORPHA:51636 ORPHA:100986 OMIM:609306 ORPHA:101112 OMIM:133190 OMIM:615957 OMIM:617769 OMIM:617166 OMIM:193003 ORPHA:98764 ORPHA:95 OMIM:229300 ORPHA:2072 ORPHA:1175 ORPHA:363432 OMIM:606658 OMIM:117360 OMIM:618824 OMIM:605259 ORPHA:98768 OMIM:607346 ORPHA:98772 OMIM:248500 OMIM:617018 ORPHA:497764 ORPHA:3115 OMIM:617675 ORPHA:101085 OMIM:617560 OMIM:614153 ORPHA:276198 OMIM:610245 ORPHA:101108 ORPHA:247815 OMIM:614871 OMIM:617770 OMIM:213200 OMIM:258450 OMIM:619862 ORPHA:98763 OMIM:137440 OMIM:614575 ORPHA:100993 ORPHA:404499 OMIM:617350 OMIM:619259 OMIM:606002 OMIM:248800 OMIM:617595 OMIM:616291 OMIM:600224 OMIM:617145 ORPHA:412057 OMIM:615768 OMIM:610743 ORPHA:284271 OMIM:614229 OMIM:617695 OMIM:605021 OMIM:607136 ORPHA:276193 OMIM:607454 ORPHA:284324 OMIM:609270 OMIM:617133 OMIM:618418 ORPHA:251282 ORPHA:95434 OMIM:607596 ORPHA:100989 ORPHA:284282 OMIM:614322 OMIM:617633
 

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