Human Phenotype Ontology 
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Tremor (HP:0001337)help
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Action tremor (HP:0002345)help
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Kinetic tremor (HP:0030186)help
Term ID: 30186
Name: Kinetic tremor
Synonym: Essential tremor
Definition: Tremor that occurs during any voluntary movement. It may include visually or non-visually guided movements. Tremor during target directed movement is called intention tremor.
Comments:
Reference: HP:0030186
Genes and Diseases:
 
       Child Nodes:
........expandIntention tremor (HP:0002080) help

 Sister Nodes: 
..expandIsometric tremor (HP:0030185) help
..expandPostural tremor (HP:0002174) help
..expandTitubation (HP:0030187) help
..expandVocal tremor (HP:0012477) 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:0030186HP:0030186Kinetic tremor0ABCB7 CL E G H2248OMIM:301310Anemia, sideroblastic, and spinocerebellar ataxia35
HP:0030186HP:0030186Kinetic tremor0ABHD12 CL E G H2609015868OMIM:612674Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract50
HP:0030186HP:0030186Kinetic tremor0ADPRS CL E G H5493621304OMIM:618170Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures
HP:0030186HP:0030186Kinetic tremor0AFG3L2 CL E G H10939315ORPHA:101109Spinocerebellar ataxia type 28HP:0040283 - Occasional86
HP:0030186HP:0030186Kinetic tremor0AKT1 CL E G H207391OMIM:615109Cowden syndrome 654
HP:0030186HP:0030186Kinetic tremor0AMACR CL E G H23600451OMIM:614307Alpha-methylacyl-CoA racemase deficiency44
HP:0030186HP:0030186Kinetic tremor0ANO10 CL E G H5512925519ORPHA:284289Adult-onset autosomal recessive cerebellar ataxia64
HP:0030186HP:0030186Kinetic tremor0ANO10 CL E G H5512925519OMIM:613728Spinocerebellar ataxia, autosomal recessive 1064
HP:0030186HP:0030186Kinetic tremor0ARSA CL E G H410713ORPHA:309271Metachromatic leukodystrophy, adult form253
HP:0030186HP:0030186Kinetic tremor0ARSA CL E G H410713ORPHA:309263Metachromatic leukodystrophy, juvenile form253
HP:0030186HP:0030186Kinetic tremor0ATCAY CL E G H85300779OMIM:601238Cerebellar ataxia, Cayman type72
HP:0030186HP:0030186Kinetic tremor0ATCAY CL E G H85300779ORPHA:94122Cerebellar ataxia, Cayman type72
HP:0030186HP:0030186Kinetic tremor0ATM CL E G H472795OMIM:208900ATAXIA-TELANGIECTASIA3267
HP:0030186HP:0030186Kinetic tremor0ATP2B3 CL E G H492816OMIM:302500Spinocerebellar ataxia, X-linked 119
HP:0030186HP:0030186Kinetic tremor0ATP2B3 CL E G H492816ORPHA:314978X-linked non progressive cerebellar ataxia19
HP:0030186HP:0030186Kinetic tremor0ATXN10 CL E G H2581410549ORPHA:98761Spinocerebellar ataxia type 10HP:0040282 - Frequent9
HP:0030186HP:0030186Kinetic tremor0ATXN2 CL E G H631110555ORPHA:98756Spinocerebellar ataxia type 2HP:0040282 - Frequent11
HP:0030186HP:0030186Kinetic tremor0CACNA1A CL E G H7731388ORPHA:98758Spinocerebellar ataxia type 6449
HP:0030186HP:0030186Kinetic tremor0CACNA1C CL E G H7751390OMIM:620029572
HP:0030186HP:0030186Kinetic tremor0CAMTA1 CL E G H2326118806ORPHA:314647Non-progressive cerebellar ataxia with intellectual disability34
HP:0030186HP:0030186Kinetic tremor0CARS1 CL E G H8331493ORPHA:33364Trichothiodystrophy
HP:0030186HP:0030186Kinetic tremor0CCDC88C CL E G H44019319967OMIM:616053Spinocerebellar ataxia 4054
HP:0030186HP:0030186Kinetic tremor0CCDC88C CL E G H44019319967ORPHA:423275Spinocerebellar ataxia type 4054
HP:0030186HP:0030186Kinetic tremor0CSTB CL E G H14762482ORPHA:308Progressive myoclonic epilepsy type 151
HP:0030186HP:0030186Kinetic tremor0CTDP1 CL E G H91502498ORPHA:48431Congenital cataracts-facial dysmorphism-neuropathy syndrome17
HP:0030186HP:0030186Kinetic tremor0CWF19L1 CL E G H5528025613ORPHA:453521Autosomal recessive cerebellar ataxia due to CWF19L1 deficiency9
HP:0030186HP:0030186Kinetic tremor0CWF19L1 CL E G H5528025613OMIM:616127Spinocerebellar ataxia, autosomal recessive 179
HP:0030186HP:0030186Kinetic tremor0ELOVL4 CL E G H678514415OMIM:133190Spinocerebellar ataxia 3462
HP:0030186HP:0030186Kinetic tremor0EPRS1 CL E G H20583418OMIM:617951Leukodystrophy, hypomyelinating, 15
HP:0030186HP:0030186Kinetic tremor0ERCC2 CL E G H20683434ORPHA:33364Trichothiodystrophy106
HP:0030186HP:0030186Kinetic tremor0ERCC3 CL E G H20713435ORPHA:33364Trichothiodystrophy54
HP:0030186HP:0030186Kinetic tremor0ERCC6 CL E G H20743438ORPHA:90324Cockayne syndrome type 3199
HP:0030186HP:0030186Kinetic tremor0ERCC8 CL E G H11613439ORPHA:90324Cockayne syndrome type 355
HP:0030186HP:0030186Kinetic tremor0FARS2 CL E G H1066721062ORPHA:466722Autosomal recessive spastic paraplegia type 7736
HP:0030186HP:0030186Kinetic tremor0FBXO7 CL E G H2579313586ORPHA:171695Parkinsonian-pyramidal syndrome36
HP:0030186HP:0030186Kinetic tremor0FMR1 CL E G H23323775OMIM:300623Fragile X tremor/ataxia syndrome30
HP:0030186HP:0030186Kinetic tremor0FMR1 CL E G H23323775ORPHA:93256Fragile X-associated tremor/ataxia syndrome30
HP:0030186HP:0030186Kinetic tremor0FXN CL E G H23953951ORPHA:95Friedreich ataxia18
HP:0030186HP:0030186Kinetic tremor0GJB1 CL E G H27054283ORPHA:1175X-linked progressive cerebellar ataxia107
HP:0030186HP:0030186Kinetic tremor0GJC2 CL E G H5716517494OMIM:608804Leukodystrophy, hypomyelinating, 237
HP:0030186HP:0030186Kinetic tremor0GJC2 CL E G H5716517494OMIM:613206Spastic paraplegia 44, autosomal recessive37
HP:0030186HP:0030186Kinetic tremor0GSS CL E G H29374624OMIM:266130Glutathione synthetase deficiency39
HP:0030186HP:0030186Kinetic tremor0GTF2E2 CL E G H29614651ORPHA:33364Trichothiodystrophy2
HP:0030186HP:0030186Kinetic tremor0GTF2H5 CL E G H40467221157ORPHA:33364Trichothiodystrophy3
HP:0030186HP:0030186Kinetic tremor0HSD17B4 CL E G H32955213OMIM:233400Perrault syndrome 198
HP:0030186HP:0030186Kinetic tremor0HYCC1 CL E G H8466824587OMIM:610532Leukodystrophy, hypomyelinating, 5
HP:0030186HP:0030186Kinetic tremor0ITM2B CL E G H94456174OMIM:117300Dementia, familial danish3
HP:0030186HP:0030186Kinetic tremor0ITPR1 CL E G H37086180OMIM:117360Spinocerebellar ataxia 29177
HP:0030186HP:0030186Kinetic tremor0ITPR1 CL E G H37086180ORPHA:208513Spinocerebellar ataxia type 29177
HP:0030186HP:0030186Kinetic tremor0KCNJ10 CL E G H37666256OMIM:612780Seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance121
HP:0030186HP:0030186Kinetic tremor0KCNK4 CL E G H508016279OMIM:618381Facial dysmorphism, hypertrichosis, epilepsy, intellectual/developmental delay, and gingival overgrowth syndrome
HP:0030186HP:0030186Kinetic tremor0KCNN2 CL E G H37816291OMIM:619725NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT VARIABLE MOVEMENT OR BEHAVIORAL ABNORMALITIES; NEDMAB
HP:0030186HP:0030186Kinetic tremor0KIF1C CL E G H107496317ORPHA:397946Autosomal spastic paraplegia type 5838
HP:0030186HP:0030186Kinetic tremor0KNSTRN CL E G H9041730767ORPHA:221139Combined immunodeficiency with faciooculoskeletal anomalies1
HP:0030186HP:0030186Kinetic tremor0LEMD2 CL E G H22149621244OMIM:619322MARBACH-RUSTAD PROGEROID SYNDROME; MARUPS1
HP:0030186HP:0030186Kinetic tremor0LMAN2L CL E G H8156219263OMIM:6178631
HP:0030186HP:0030186Kinetic tremor0LMNB1 CL E G H40016637ORPHA:99027Adult-onset autosomal dominant leukodystrophy44
HP:0030186HP:0030186Kinetic tremor0MAOA CL E G H41286833OMIM:300615Brunner syndrome.22
HP:0030186HP:0030186Kinetic tremor0MPLKIP CL E G H13664716002ORPHA:33364Trichothiodystrophy9
HP:0030186HP:0030186Kinetic tremor0MRE11 CL E G H43617230ORPHA:251347Ataxia-telangiectasia-like disorder532
HP:0030186HP:0030186Kinetic tremor0NFASC CL E G H2311429866OMIM:618356Neurodevelopmental disorder with central and peripheral motor dysfunction
HP:0030186HP:0030186Kinetic tremor0NKX2-1 CL E G H708011825ORPHA:209905Brain-lung-thyroid syndrome51
HP:0030186HP:0030186Kinetic tremor0NONO CL E G H48417871ORPHA:466791Macrocephaly-intellectual disability-left ventricular non compaction syndrome10
HP:0030186HP:0030186Kinetic tremor0NOP56 CL E G H1052815911ORPHA:276198Spinocerebellar ataxia type 369
HP:0030186HP:0030186Kinetic tremor0NOTCH2NLC CL E G H10099671753924OMIM:618866TREMOR, HEREDITARY ESSENTIAL, 6; ETM6
HP:0030186HP:0030186Kinetic tremor0OPHN1 CL E G H49838148ORPHA:137831X-linked intellectual disability-cerebellar hypoplasia syndrome55
HP:0030186HP:0030186Kinetic tremor0PEX10 CL E G H51928851OMIM:614871Peroxisome biogenesis disorder 6B75
HP:0030186HP:0030186Kinetic tremor0PI4KA CL E G H52978983OMIM:619708GASTROINTESTINAL DEFECTS AND IMMUNODEFICIENCY SYNDROME 2; GIDID211
HP:0030186HP:0030186Kinetic tremor0PIK3CA CL E G H52908975OMIM:615108Cowden syndrome 5162
HP:0030186HP:0030186Kinetic tremor0PIK3CD CL E G H52938977ORPHA:221139Combined immunodeficiency with faciooculoskeletal anomalies9
HP:0030186HP:0030186Kinetic tremor0PLA2G6 CL E G H83989039OMIM:610217Neurodegeneration with brain iron accumulation 2B133
HP:0030186HP:0030186Kinetic tremor0PLP1 CL E G H53549086OMIM:312080Pelizaeus-Merzbacher disease60
HP:0030186HP:0030186Kinetic tremor0PMM2 CL E G H53739115OMIM:212065Congenital disorder of glycosylation, type Ia150
HP:0030186HP:0030186Kinetic tremor0PNPLA6 CL E G H1090816268OMIM:215470Boucher-Neuhauser syndrome103
HP:0030186HP:0030186Kinetic tremor0POLG CL E G H54289179OMIM:258450Progressive external ophthalmoplegia with mitochondrial DNA deletions,autosomal recessive464
HP:0030186HP:0030186Kinetic tremor0POLR3A CL E G H1112830074ORPHA:447896Tremor-ataxia-central hypomyelination syndrome138
HP:0030186HP:0030186Kinetic tremor0POLR3A CL E G H1112830074OMIM:264090Wiedemann-Rautenstrauch syndrome138
HP:0030186HP:0030186Kinetic tremor0POLR3B CL E G H5570330348OMIM:614381Leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism67
HP:0030186HP:0030186Kinetic tremor0POU4F1 CL E G H54579218OMIM:619352ATAXIA, INTENTION TREMOR, AND HYPOTONIA SYNDROME, CHILDHOOD-ONSET; ATITHS
HP:0030186HP:0030186Kinetic tremor0POU4F1 CL E G H54579218ORPHA:314647Non-progressive cerebellar ataxia with intellectual disability
HP:0030186HP:0030186Kinetic tremor0PPP1R15B CL E G H8491914951OMIM:616817Microcephaly, short stature, and impaired glucose metabolism 22
HP:0030186HP:0030186Kinetic tremor0PPP2R2B CL E G H55219305ORPHA:98762Spinocerebellar ataxia type 125
HP:0030186HP:0030186Kinetic tremor0PRICKLE1 CL E G H14416517019ORPHA:308Progressive myoclonic epilepsy type 1133
HP:0030186HP:0030186Kinetic tremor0PSAP CL E G H56609498OMIM:610539Gaucher disease, atypical81
HP:0030186HP:0030186Kinetic tremor0PSAP CL E G H56609498ORPHA:309271Metachromatic leukodystrophy, adult form81
HP:0030186HP:0030186Kinetic tremor0PSAP CL E G H56609498ORPHA:309263Metachromatic leukodystrophy, juvenile form81
HP:0030186HP:0030186Kinetic tremor0PTEN CL E G H57289588OMIM:158350Cowden syndrome 1948
HP:0030186HP:0030186Kinetic tremor0QRICH1 CL E G H5487024713OMIM:617982VERVERI-BRADY SYNDROME; VERBRAS
HP:0030186HP:0030186Kinetic tremor0RARS1 CL E G H59179870OMIM:616140Leukodystrophy, hypomyelinating, 9
HP:0030186HP:0030186Kinetic tremor0RARS1 CL E G H59179870ORPHA:438114RARS-related autosomal recessive hypomyelinating leukodystrophy
HP:0030186HP:0030186Kinetic tremor0RFC1 CL E G H59819969ORPHA:504476Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome
HP:0030186HP:0030186Kinetic tremor0RNF113A CL E G H773712974ORPHA:33364Trichothiodystrophy3
HP:0030186HP:0030186Kinetic tremor0RNU12 CL E G H26701019380ORPHA:512260Congenital cerebellar ataxia due to RNU12 mutation
HP:0030186HP:0030186Kinetic tremor0SACS CL E G H2627810519ORPHA:98Autosomal recessive spastic ataxia of Charlevoix-Saguenay309
HP:0030186HP:0030186Kinetic tremor0SCARB2 CL E G H9501665OMIM:254900Epilepsy, progressive myoclonic, 4, with or without renal failure77
HP:0030186HP:0030186Kinetic tremor0SCARB2 CL E G H9501665ORPHA:308Progressive myoclonic epilepsy type 177
HP:0030186HP:0030186Kinetic tremor0SCP2 CL E G H634210606OMIM:613724Leukoencephalopathy with dystonia and motor neuropathy4
HP:0030186HP:0030186Kinetic tremor0SCYL1 CL E G H5741014372ORPHA:466794Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome5
HP:0030186HP:0030186Kinetic tremor0SEMA6B CL E G H1050110739OMIM:618876EPILEPSY, PROGRESSIVE MYOCLONIC, 11; EPM11
HP:0030186HP:0030186Kinetic tremor0SLC25A46 CL E G H9113725198OMIM:616505Neuropathy, hereditary motor and sensory, type VIB14
HP:0030186HP:0030186Kinetic tremor0SLC6A17 CL E G H38866231399OMIM:616269Mental retardation, autosomal recessive 48.12
HP:0030186HP:0030186Kinetic tremor0SMG9 CL E G H5600625763OMIM:6199952
HP:0030186HP:0030186Kinetic tremor0SNCA CL E G H662211138ORPHA:171695Parkinsonian-pyramidal syndrome65
HP:0030186HP:0030186Kinetic tremor0SPTBN1 CL E G H671111275OMIM:619475DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA
HP:0030186HP:0030186Kinetic tremor0SPTBN2 CL E G H671211276ORPHA:352403Spectrin-associated autosomal recessive cerebellar ataxia126
HP:0030186HP:0030186Kinetic tremor0SPTBN2 CL E G H671211276OMIM:600224Spinocerebellar ataxia 5126
HP:0030186HP:0030186Kinetic tremor0SPTBN2 CL E G H671211276OMIM:615386Spinocerebellar ataxia, autosomal recessive 14126
HP:0030186HP:0030186Kinetic tremor0TARS1 CL E G H689711572ORPHA:33364Trichothiodystrophy
HP:0030186HP:0030186Kinetic tremor0TBP CL E G H690811588OMIM:607136Spinocerebellar ataxia 177
HP:0030186HP:0030186Kinetic tremor0TECR CL E G H95244551OMIM:614020Mental retardation, autosomal recessive 1417
HP:0030186HP:0030186Kinetic tremor0TENM4 CL E G H2601129945OMIM:616736Tremor, hereditary essential, 55
HP:0030186HP:0030186Kinetic tremor0TGM6 CL E G H34364116255OMIM:613908Spinocerebellar ataxia 3558
HP:0030186HP:0030186Kinetic tremor0TGM6 CL E G H34364116255ORPHA:276193Spinocerebellar ataxia type 3558
HP:0030186HP:0030186Kinetic tremor0TMCO1 CL E G H5449918188OMIM:213980Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome6
HP:0030186HP:0030186Kinetic tremor0TMEM106B CL E G H5466422407OMIM:617964Leukodystrophy, hypomyelinating, 16
HP:0030186HP:0030186Kinetic tremor0TMEM240 CL E G H33945325186OMIM:607454Spinocerebellar ataxia 219
HP:0030186HP:0030186Kinetic tremor0TMEM63A CL E G H972529118OMIM:618688LEUKODYSTROPHY, HYPOMYELINATING, 19, TRANSIENT INFANTILE; HLD19
HP:0030186HP:0030186Kinetic tremor0TMEM70 CL E G H5496826050OMIM:614052Mitochondrial complex V (atp synthase) deficiency, nuclear type 263
HP:0030186HP:0030186Kinetic tremor0TPK1 CL E G H2701017358OMIM:614458Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type)21
HP:0030186HP:0030186Kinetic tremor0UCHL1 CL E G H734512513OMIM:615491Spastic paraplegia 79, autosomal recessive21
HP:0030186HP:0030186Kinetic tremor0UFC1 CL E G H5150626941OMIM:618076Neurodevelopmental disorder with spasticity and poor growth
HP:0030186HP:0030186Kinetic tremor0VLDLR CL E G H743612698OMIM:224050Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 1111
HP:0030186HP:0030186Kinetic tremor0VWA3B CL E G H20040328385OMIM:616948Spinocerebellar ataxia, autosomal recessive 221
HP:0030186HP:0030186Kinetic tremor0XPNPEP3 CL E G H6392928052OMIM:613159Nephronophthisis-Like nephropathy 1.109
HP:0030186HP:0002080Intention tremor1ABCB7 CL E G H2248OMIM:301310Anemia, sideroblastic, and spinocerebellar ataxia.35
HP:0030186HP:0002080Intention tremor1ABHD12 CL E G H2609015868OMIM:612674Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract.50
HP:0030186HP:0002080Intention tremor1ADPRS CL E G H5493621304OMIM:618170Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures
HP:0030186HP:0002080Intention tremor1AKT1 CL E G H207391OMIM:615109Cowden syndrome 6.54
HP:0030186HP:0002080Intention tremor1AMACR CL E G H23600451OMIM:614307Alpha-methylacyl-CoA racemase deficiency44
HP:0030186HP:0002080Intention tremor1ANO10 CL E G H5512925519ORPHA:284289Adult-onset autosomal recessive cerebellar ataxiaHP:0040283 - Occasional64
HP:0030186HP:0002080Intention tremor1ANO10 CL E G H5512925519OMIM:613728Spinocerebellar ataxia, autosomal recessive 10HP:0040283 - Occasional64
HP:0030186HP:0002080Intention tremor1ARSA CL E G H410713ORPHA:309271Metachromatic leukodystrophy, adult formHP:0040283 - Occasional253
HP:0030186HP:0002080Intention tremor1ARSA CL E G H410713ORPHA:309263Metachromatic leukodystrophy, juvenile formHP:0040283 - Occasional253
HP:0030186HP:0002080Intention tremor1ATCAY CL E G H85300779OMIM:601238Cerebellar ataxia, Cayman type.72
HP:0030186HP:0002080Intention tremor1ATCAY CL E G H85300779ORPHA:94122Cerebellar ataxia, Cayman typeHP:0040282 - Frequent72
HP:0030186HP:0002080Intention tremor1ATM CL E G H472795OMIM:208900ATAXIA-TELANGIECTASIA3267
HP:0030186HP:0002080Intention tremor1ATP2B3 CL E G H492816OMIM:302500Spinocerebellar ataxia, X-linked 1.19
HP:0030186HP:0002080Intention tremor1ATP2B3 CL E G H492816ORPHA:314978X-linked non progressive cerebellar ataxiaHP:0040282 - Frequent19
HP:0030186HP:0002080Intention tremor1ATXN10 CL E G H2581410549ORPHA:98761Spinocerebellar ataxia type 10HP:0040282 - Frequent9
HP:0030186HP:0002080Intention tremor1CACNA1A CL E G H7731388ORPHA:98758Spinocerebellar ataxia type 6HP:0040281 - Very frequent449
HP:0030186HP:0002080Intention tremor1CACNA1C CL E G H7751390OMIM:620029572
HP:0030186HP:0002080Intention tremor1CAMTA1 CL E G H2326118806ORPHA:314647Non-progressive cerebellar ataxia with intellectual disabilityHP:0040284 - Very rare34
HP:0030186HP:0002080Intention tremor1CARS1 CL E G H8331493ORPHA:33364TrichothiodystrophyHP:0040283 - Occasional
HP:0030186HP:0002080Intention tremor1CCDC88C CL E G H44019319967OMIM:616053Spinocerebellar ataxia 40.54
HP:0030186HP:0002080Intention tremor1CCDC88C CL E G H44019319967ORPHA:423275Spinocerebellar ataxia type 40HP:0040282 - Frequent54
HP:0030186HP:0002080Intention tremor1CSTB CL E G H14762482ORPHA:308Progressive myoclonic epilepsy type 1HP:0040282 - Frequent51
HP:0030186HP:0002080Intention tremor1CTDP1 CL E G H91502498ORPHA:48431Congenital cataracts-facial dysmorphism-neuropathy syndromeHP:0040281 - Very frequent17
HP:0030186HP:0002080Intention tremor1CWF19L1 CL E G H5528025613ORPHA:453521Autosomal recessive cerebellar ataxia due to CWF19L1 deficiencyHP:0040282 - Frequent9
HP:0030186HP:0002080Intention tremor1CWF19L1 CL E G H5528025613OMIM:616127Spinocerebellar ataxia, autosomal recessive 179
HP:0030186HP:0002080Intention tremor1ELOVL4 CL E G H678514415OMIM:133190Spinocerebellar ataxia 34HP:0040283 - Occasional62
HP:0030186HP:0002080Intention tremor1EPRS1 CL E G H20583418OMIM:617951Leukodystrophy, hypomyelinating, 15.
HP:0030186HP:0002080Intention tremor1ERCC2 CL E G H20683434ORPHA:33364TrichothiodystrophyHP:0040283 - Occasional106
HP:0030186HP:0002080Intention tremor1ERCC3 CL E G H20713435ORPHA:33364TrichothiodystrophyHP:0040283 - Occasional54
HP:0030186HP:0002080Intention tremor1ERCC6 CL E G H20743438ORPHA:90324Cockayne syndrome type 3HP:0040282 - Frequent199
HP:0030186HP:0002080Intention tremor1ERCC8 CL E G H11613439ORPHA:90324Cockayne syndrome type 3HP:0040282 - Frequent55
HP:0030186HP:0002080Intention tremor1FARS2 CL E G H1066721062ORPHA:466722Autosomal recessive spastic paraplegia type 77HP:0040282 - Frequent36
HP:0030186HP:0002080Intention tremor1FBXO7 CL E G H2579313586ORPHA:171695Parkinsonian-pyramidal syndromeHP:0040282 - Frequent36
HP:0030186HP:0002080Intention tremor1FMR1 CL E G H23323775OMIM:300623Fragile X tremor/ataxia syndrome30
HP:0030186HP:0002080Intention tremor1FMR1 CL E G H23323775ORPHA:93256Fragile X-associated tremor/ataxia syndromeHP:0040281 - Very frequent30
HP:0030186HP:0002080Intention tremor1FXN CL E G H23953951ORPHA:95Friedreich ataxiaHP:0040282 - Frequent18
HP:0030186HP:0002080Intention tremor1GJB1 CL E G H27054283ORPHA:1175X-linked progressive cerebellar ataxiaHP:0040282 - Frequent107
HP:0030186HP:0002080Intention tremor1GJC2 CL E G H5716517494OMIM:608804Leukodystrophy, hypomyelinating, 2.37
HP:0030186HP:0002080Intention tremor1GJC2 CL E G H5716517494OMIM:613206Spastic paraplegia 44, autosomal recessive.37
HP:0030186HP:0002080Intention tremor1GSS CL E G H29374624OMIM:266130Glutathione synthetase deficiency.39
HP:0030186HP:0002080Intention tremor1GTF2E2 CL E G H29614651ORPHA:33364TrichothiodystrophyHP:0040283 - Occasional2
HP:0030186HP:0002080Intention tremor1GTF2H5 CL E G H40467221157ORPHA:33364TrichothiodystrophyHP:0040283 - Occasional3
HP:0030186HP:0002080Intention tremor1HSD17B4 CL E G H32955213OMIM:233400Perrault syndrome 198
HP:0030186HP:0002080Intention tremor1HYCC1 CL E G H8466824587OMIM:610532Leukodystrophy, hypomyelinating, 5.
HP:0030186HP:0002080Intention tremor1ITM2B CL E G H94456174OMIM:117300Dementia, familial danish.3
HP:0030186HP:0002080Intention tremor1ITPR1 CL E G H37086180OMIM:117360Spinocerebellar ataxia 29.177
HP:0030186HP:0002080Intention tremor1ITPR1 CL E G H37086180ORPHA:208513Spinocerebellar ataxia type 29HP:0040281 - Very frequent177
HP:0030186HP:0002080Intention tremor1KCNJ10 CL E G H37666256OMIM:612780Seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance.121
HP:0030186HP:0002080Intention tremor1KCNK4 CL E G H508016279OMIM:618381Facial dysmorphism, hypertrichosis, epilepsy, intellectual/developmental delay, and gingival overgrowth syndrome
HP:0030186HP:0002080Intention tremor1KCNN2 CL E G H37816291OMIM:619725NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT VARIABLE MOVEMENT OR BEHAVIORAL ABNORMALITIES; NEDMAB
HP:0030186HP:0002080Intention tremor1KIF1C CL E G H107496317ORPHA:397946Autosomal spastic paraplegia type 58HP:0040283 - Occasional38
HP:0030186HP:0002080Intention tremor1KNSTRN CL E G H9041730767ORPHA:221139Combined immunodeficiency with faciooculoskeletal anomaliesHP:0040282 - Frequent1
HP:0030186HP:0002080Intention tremor1LEMD2 CL E G H22149621244OMIM:619322MARBACH-RUSTAD PROGEROID SYNDROME; MARUPS1
HP:0030186HP:0002080Intention tremor1LMAN2L CL E G H8156219263OMIM:6178631
HP:0030186HP:0002080Intention tremor1LMNB1 CL E G H40016637ORPHA:99027Adult-onset autosomal dominant leukodystrophyHP:0040283 - Occasional44
HP:0030186HP:0002080Intention tremor1MPLKIP CL E G H13664716002ORPHA:33364TrichothiodystrophyHP:0040283 - Occasional9
HP:0030186HP:0002080Intention tremor1MRE11 CL E G H43617230ORPHA:251347Ataxia-telangiectasia-like disorderHP:0040282 - Frequent532
HP:0030186HP:0002080Intention tremor1NFASC CL E G H2311429866OMIM:618356Neurodevelopmental disorder with central and peripheral motor dysfunction.
HP:0030186HP:0002080Intention tremor1NKX2-1 CL E G H708011825ORPHA:209905Brain-lung-thyroid syndromeHP:0040283 - Occasional51
HP:0030186HP:0002080Intention tremor1NONO CL E G H48417871ORPHA:466791Macrocephaly-intellectual disability-left ventricular non compaction syndromeHP:0040283 - Occasional10
HP:0030186HP:0002080Intention tremor1NOP56 CL E G H1052815911ORPHA:276198Spinocerebellar ataxia type 36HP:0040284 - Very rare9
HP:0030186HP:0002080Intention tremor1OPHN1 CL E G H49838148ORPHA:137831X-linked intellectual disability-cerebellar hypoplasia syndromeHP:0040283 - Occasional55
HP:0030186HP:0002080Intention tremor1PEX10 CL E G H51928851OMIM:614871Peroxisome biogenesis disorder 6BHP:0040283 - Occasional75
HP:0030186HP:0002080Intention tremor1PI4KA CL E G H52978983OMIM:619708GASTROINTESTINAL DEFECTS AND IMMUNODEFICIENCY SYNDROME 2; GIDID211
HP:0030186HP:0002080Intention tremor1PIK3CA CL E G H52908975OMIM:615108Cowden syndrome 5.162
HP:0030186HP:0002080Intention tremor1PIK3CD CL E G H52938977ORPHA:221139Combined immunodeficiency with faciooculoskeletal anomaliesHP:0040282 - Frequent9
HP:0030186HP:0002080Intention tremor1PLA2G6 CL E G H83989039OMIM:610217Neurodegeneration with brain iron accumulation 2B.133
HP:0030186HP:0002080Intention tremor1PLP1 CL E G H53549086OMIM:312080Pelizaeus-Merzbacher disease60
HP:0030186HP:0002080Intention tremor1PMM2 CL E G H53739115OMIM:212065Congenital disorder of glycosylation, type Ia150
HP:0030186HP:0002080Intention tremor1PNPLA6 CL E G H1090816268OMIM:215470Boucher-Neuhauser syndrome.103
HP:0030186HP:0002080Intention tremor1POLG CL E G H54289179OMIM:258450Progressive external ophthalmoplegia with mitochondrial DNA deletions,autosomal recessive464
HP:0030186HP:0002080Intention tremor1POLR3A CL E G H1112830074ORPHA:447896Tremor-ataxia-central hypomyelination syndromeHP:0040282 - Frequent138
HP:0030186HP:0002080Intention tremor1POLR3A CL E G H1112830074OMIM:264090Wiedemann-Rautenstrauch syndrome.138
HP:0030186HP:0002080Intention tremor1POLR3B CL E G H5570330348OMIM:614381Leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism.67
HP:0030186HP:0002080Intention tremor1POU4F1 CL E G H54579218OMIM:619352ATAXIA, INTENTION TREMOR, AND HYPOTONIA SYNDROME, CHILDHOOD-ONSET; ATITHS
HP:0030186HP:0002080Intention tremor1POU4F1 CL E G H54579218ORPHA:314647Non-progressive cerebellar ataxia with intellectual disabilityHP:0040284 - Very rare
HP:0030186HP:0002080Intention tremor1PPP2R2B CL E G H55219305ORPHA:98762Spinocerebellar ataxia type 12HP:0040283 - Occasional5
HP:0030186HP:0002080Intention tremor1PRICKLE1 CL E G H14416517019ORPHA:308Progressive myoclonic epilepsy type 1HP:0040282 - Frequent133
HP:0030186HP:0002080Intention tremor1PSAP CL E G H56609498OMIM:610539Gaucher disease, atypical81
HP:0030186HP:0002080Intention tremor1PSAP CL E G H56609498ORPHA:309271Metachromatic leukodystrophy, adult formHP:0040283 - Occasional81
HP:0030186HP:0002080Intention tremor1PSAP CL E G H56609498ORPHA:309263Metachromatic leukodystrophy, juvenile formHP:0040283 - Occasional81
HP:0030186HP:0002080Intention tremor1PTEN CL E G H57289588OMIM:158350Cowden syndrome 1.948
HP:0030186HP:0002080Intention tremor1QRICH1 CL E G H5487024713OMIM:617982VERVERI-BRADY SYNDROME; VERBRAS
HP:0030186HP:0002080Intention tremor1RARS1 CL E G H59179870OMIM:616140Leukodystrophy, hypomyelinating, 9.
HP:0030186HP:0002080Intention tremor1RARS1 CL E G H59179870ORPHA:438114RARS-related autosomal recessive hypomyelinating leukodystrophyHP:0040282 - Frequent
HP:0030186HP:0002080Intention tremor1RFC1 CL E G H59819969ORPHA:504476Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndromeHP:0040282 - Frequent
HP:0030186HP:0002080Intention tremor1RNF113A CL E G H773712974ORPHA:33364TrichothiodystrophyHP:0040283 - Occasional3
HP:0030186HP:0002080Intention tremor1RNU12 CL E G H26701019380ORPHA:512260Congenital cerebellar ataxia due to RNU12 mutationHP:0040282 - Frequent
HP:0030186HP:0002080Intention tremor1SACS CL E G H2627810519ORPHA:98Autosomal recessive spastic ataxia of Charlevoix-SaguenayHP:0040283 - Occasional309
HP:0030186HP:0002080Intention tremor1SCARB2 CL E G H9501665OMIM:254900Epilepsy, progressive myoclonic, 4, with or without renal failure.77
HP:0030186HP:0002080Intention tremor1SCARB2 CL E G H9501665ORPHA:308Progressive myoclonic epilepsy type 1HP:0040282 - Frequent77
HP:0030186HP:0002080Intention tremor1SCP2 CL E G H634210606OMIM:613724Leukoencephalopathy with dystonia and motor neuropathy.4
HP:0030186HP:0002080Intention tremor1SCYL1 CL E G H5741014372ORPHA:466794Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndromeHP:0040282 - Frequent5
HP:0030186HP:0002080Intention tremor1SEMA6B CL E G H1050110739OMIM:618876EPILEPSY, PROGRESSIVE MYOCLONIC, 11; EPM11
HP:0030186HP:0002080Intention tremor1SLC25A46 CL E G H9113725198OMIM:616505Neuropathy, hereditary motor and sensory, type VIB14
HP:0030186HP:0002080Intention tremor1SMG9 CL E G H5600625763OMIM:6199952
HP:0030186HP:0002080Intention tremor1SNCA CL E G H662211138ORPHA:171695Parkinsonian-pyramidal syndromeHP:0040282 - Frequent65
HP:0030186HP:0002080Intention tremor1SPTBN1 CL E G H671111275OMIM:619475DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA
HP:0030186HP:0002080Intention tremor1SPTBN2 CL E G H671211276ORPHA:352403Spectrin-associated autosomal recessive cerebellar ataxiaHP:0040283 - Occasional126
HP:0030186HP:0002080Intention tremor1SPTBN2 CL E G H671211276OMIM:600224Spinocerebellar ataxia 5.126
HP:0030186HP:0002080Intention tremor1SPTBN2 CL E G H671211276OMIM:615386Spinocerebellar ataxia, autosomal recessive 14.126
HP:0030186HP:0002080Intention tremor1TARS1 CL E G H689711572ORPHA:33364TrichothiodystrophyHP:0040283 - Occasional
HP:0030186HP:0002080Intention tremor1TBP CL E G H690811588OMIM:607136Spinocerebellar ataxia 17.7
HP:0030186HP:0002080Intention tremor1TECR CL E G H95244551OMIM:614020Mental retardation, autosomal recessive 1417
HP:0030186HP:0002080Intention tremor1TENM4 CL E G H2601129945OMIM:616736Tremor, hereditary essential, 55
HP:0030186HP:0002080Intention tremor1TGM6 CL E G H34364116255OMIM:613908Spinocerebellar ataxia 35.58
HP:0030186HP:0002080Intention tremor1TGM6 CL E G H34364116255ORPHA:276193Spinocerebellar ataxia type 35HP:0040282 - Frequent58
HP:0030186HP:0002080Intention tremor1TMCO1 CL E G H5449918188OMIM:213980Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome6
HP:0030186HP:0002080Intention tremor1TMEM106B CL E G H5466422407OMIM:617964Leukodystrophy, hypomyelinating, 16.
HP:0030186HP:0002080Intention tremor1TMEM240 CL E G H33945325186OMIM:607454Spinocerebellar ataxia 219
HP:0030186HP:0002080Intention tremor1TMEM63A CL E G H972529118OMIM:618688LEUKODYSTROPHY, HYPOMYELINATING, 19, TRANSIENT INFANTILE; HLD19
HP:0030186HP:0002080Intention tremor1TMEM70 CL E G H5496826050OMIM:614052Mitochondrial complex V (atp synthase) deficiency, nuclear type 2.63
HP:0030186HP:0002080Intention tremor1TPK1 CL E G H2701017358OMIM:614458Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type)21
HP:0030186HP:0002080Intention tremor1UCHL1 CL E G H734512513OMIM:615491Spastic paraplegia 79, autosomal recessiveHP:0040283 - Occasional21
HP:0030186HP:0002080Intention tremor1UFC1 CL E G H5150626941OMIM:618076Neurodevelopmental disorder with spasticity and poor growth.
HP:0030186HP:0002080Intention tremor1VLDLR CL E G H743612698OMIM:224050Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 1.111
HP:0030186HP:0002080Intention tremor1VWA3B CL E G H20040328385OMIM:616948Spinocerebellar ataxia, autosomal recessive 221


Genes (106) :ABCB7 ABHD12 ADPRS AFG3L2 AKT1 AMACR ANO10 ARSA ATCAY ATM ATP2B3 ATXN10 ATXN2 CACNA1A CACNA1C CAMTA1 CARS1 CCDC88C CSTB CTDP1 CWF19L1 ELOVL4 EPRS1 ERCC2 ERCC3 ERCC6 ERCC8 FARS2 FBXO7 FMR1 FXN GJB1 GJC2 GSS GTF2E2 GTF2H5 HSD17B4 HYCC1 ITM2B ITPR1 KCNJ10 KCNK4 KCNN2 KIF1C KNSTRN LEMD2 LMAN2L LMNB1 MAOA MPLKIP MRE11 NFASC NKX2-1 NONO NOP56 NOTCH2NLC OPHN1 PEX10 PI4KA PIK3CA PIK3CD PLA2G6 PLP1 PMM2 PNPLA6 POLG POLR3A POLR3B POU4F1 PPP1R15B PPP2R2B PRICKLE1 PSAP PTEN QRICH1 RARS1 RFC1 RNF113A RNU12 SACS SCARB2 SCP2 SCYL1 SEMA6B SLC25A46 SLC6A17 SMG9 SNCA SPTBN1 SPTBN2 TARS1 TBP TECR TENM4 TGM6 TMCO1 TMEM106B TMEM240 TMEM63A TMEM70 TPK1 UCHL1 UFC1 VLDLR VWA3B XPNPEP3

Diseases (109) :OMIM:301310 OMIM:612674 OMIM:618170 ORPHA:101109 OMIM:615109 OMIM:614307 ORPHA:284289 OMIM:613728 ORPHA:309271 ORPHA:309263 OMIM:601238 ORPHA:94122 OMIM:208900 OMIM:302500 ORPHA:314978 ORPHA:98761 ORPHA:98756 ORPHA:98758 OMIM:620029 ORPHA:314647 ORPHA:33364 OMIM:616053 ORPHA:423275 ORPHA:308 ORPHA:48431 ORPHA:453521 OMIM:616127 OMIM:133190 OMIM:617951 ORPHA:90324 ORPHA:466722 ORPHA:171695 OMIM:300623 ORPHA:93256 ORPHA:95 ORPHA:1175 OMIM:608804 OMIM:613206 OMIM:266130 OMIM:233400 OMIM:610532 OMIM:117300 OMIM:117360 ORPHA:208513 OMIM:612780 OMIM:618381 OMIM:619725 ORPHA:397946 ORPHA:221139 OMIM:619322 OMIM:617863 ORPHA:99027 OMIM:300615 ORPHA:251347 OMIM:618356 ORPHA:209905 ORPHA:466791 ORPHA:276198 OMIM:618866 ORPHA:137831 OMIM:614871 OMIM:619708 OMIM:615108 OMIM:610217 OMIM:312080 OMIM:212065 OMIM:215470 OMIM:258450 ORPHA:447896 OMIM:264090 OMIM:614381 OMIM:619352 OMIM:616817 ORPHA:98762 OMIM:610539 OMIM:158350 OMIM:617982 OMIM:616140 ORPHA:438114 ORPHA:504476 ORPHA:512260 ORPHA:98 OMIM:254900 OMIM:613724 ORPHA:466794 OMIM:618876 OMIM:616505 OMIM:616269 OMIM:619995 OMIM:619475 ORPHA:352403 OMIM:600224 OMIM:615386 OMIM:607136 OMIM:614020 OMIM:616736 OMIM:613908 ORPHA:276193 OMIM:213980 OMIM:617964 OMIM:607454 OMIM:618688 OMIM:614052 OMIM:614458 OMIM:615491 OMIM:618076 OMIM:224050 OMIM:616948 OMIM:613159
 

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