Human Phenotype Ontology 
Grandparent Node:
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Abnormality of movement (HP:0100022)help
Parent Node:
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Involuntary movements (HP:0004305)help
..Starting node
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Fasciculations (HP:0002380)help
Term ID: 2380
Name: Fasciculations
Synonym: Fasciculation; Muscle fasciculation; Muscle twitch
Definition: Fasciculations are observed as small, local, involuntary muscle contractions (twitching) visible under the skin. Fasciculations result from increased irritability of an axon (which in turn is often a manifestation of disease of a motor neuron). This leads to sporadic discharges of all the muscle fibers controlled by the axon in isolation from other motor units.
Comments:
Reference: HP:0002380
Genes and Diseases:
 
       Child Nodes:
........expandTongue fasciculations (HP:0001308) help
........expandFacial-lingual fasciculations (HP:0007089) help
........expandLimb fasciculations (HP:0007289) help

 Sister Nodes: 
..expandAthetosis (HP:0002305) help
..expandChorea (HP:0002072) help
..expandClonus (HP:0002169) help
..expandHemiballismus (HP:0100248) help
..expandIntermittent painful muscle spasms (HP:0011964) help
..expandMotor stereotypy (HP:0000733) help
..expandMyoclonus (HP:0001336) help
..expandParoxysmal dyskinesia (HP:0007166) help
..expandSelf-mutilation of tongue and lips due to involuntary movements (HP:0008767) help
..expandTics (HP:0100033) help
..expandTremor (HP:0001337) 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:0002380HP:0002380Fasciculations0ADPRS CL E G H5493621304OMIM:618170Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures
HP:0002380HP:0002380Fasciculations0AGTPBP1 CL E G H2328717258OMIM:618276Neurodegeneration, childhood-onset, with cerebellar atrophy1
HP:0002380HP:0002380Fasciculations0AGTPBP1 CL E G H2328717258ORPHA:2254Pontocerebellar hypoplasia type 11
HP:0002380HP:0002380Fasciculations0AIFM1 CL E G H91318768OMIM:300816Combined oxidative phosphorylation deficiency 6.60
HP:0002380HP:0002380Fasciculations0AIFM1 CL E G H91318768ORPHA:238329Severe X-linked mitochondrial encephalomyopathy60
HP:0002380HP:0002380Fasciculations0ANO10 CL E G H5512925519ORPHA:284289Adult-onset autosomal recessive cerebellar ataxiaHP:0040282 - Frequent64
HP:0002380HP:0002380Fasciculations0ANO10 CL E G H5512925519OMIM:613728Spinocerebellar ataxia, autosomal recessive 10.64
HP:0002380HP:0002380Fasciculations0ANXA11 CL E G H311535OMIM:619733INCLUSION BODY MYOPATHY AND BRAIN WHITE MATTER ABNORMALITIES; IBMWMA
HP:0002380HP:0002380Fasciculations0AR CL E G H367644OMIM:313200Spinal and bulbar muscular atrophy, X-linked 1.125
HP:0002380HP:0002380Fasciculations0ASAH1 CL E G H427735OMIM:159950Spinal muscular atrophy with progressive myoclonic epilepsy.78
HP:0002380HP:0002380Fasciculations0ATAD1 CL E G H8489625903ORPHA:3197Hereditary hyperekplexiaHP:0040281 - Very frequent
HP:0002380HP:0002380Fasciculations0ATP11A CL E G H2325013552OMIM:619851LEUKODYSTROPHY, HYPOMYELINATING, 24; HLD24
HP:0002380HP:0002380Fasciculations0ATP1A2 CL E G H477800ORPHA:569Familial or sporadic hemiplegic migraine239
HP:0002380HP:0002380Fasciculations0ATXN1 CL E G H631010548OMIM:164400Spinocerebellar ataxia 119
HP:0002380HP:0002380Fasciculations0ATXN1 CL E G H631010548ORPHA:98755Spinocerebellar ataxia type 1HP:0040283 - Occasional19
HP:0002380HP:0002380Fasciculations0ATXN10 CL E G H2581410549OMIM:603516Spinocerebellar ataxia 109
HP:0002380HP:0002380Fasciculations0ATXN2 CL E G H631110555OMIM:183090Spinocerebellar ataxia 2.11
HP:0002380HP:0002380Fasciculations0ATXN2 CL E G H631110555ORPHA:98756Spinocerebellar ataxia type 2HP:0040282 - Frequent11
HP:0002380HP:0002380Fasciculations0ATXN3 CL E G H42877106OMIM:109150Machado-Joseph disease14
HP:0002380HP:0002380Fasciculations0ATXN3 CL E G H42877106ORPHA:276238Machado-Joseph disease type 114
HP:0002380HP:0002380Fasciculations0ATXN3 CL E G H42877106ORPHA:276241Machado-Joseph disease type 214
HP:0002380HP:0002380Fasciculations0ATXN3 CL E G H42877106ORPHA:276244Machado-Joseph disease type 314
HP:0002380HP:0002380Fasciculations0BICD2 CL E G H2329917208OMIM:615290Spinal muscular atrophy, lower extremity-predominant, 2, autosomaldominantHP:0040283 - Occasional46
HP:0002380HP:0002380Fasciculations0C9ORF72 CL E G H20322828337ORPHA:275864Behavioral variant of frontotemporal dementiaHP:0040283 - Occasional56
HP:0002380HP:0002380Fasciculations0C9ORF72 CL E G H20322828337ORPHA:275872Frontotemporal dementia with motor neuron diseaseHP:0040283 - Occasional56
HP:0002380HP:0002380Fasciculations0CACNA1A CL E G H7731388ORPHA:569Familial or sporadic hemiplegic migraine449
HP:0002380HP:0002380Fasciculations0CCNF CL E G H8991591OMIM:619141FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 5; FTDALS5
HP:0002380HP:0002380Fasciculations0CEP126 CL E G H5756229264ORPHA:65684Monomelic amyotrophyHP:0040283 - Occasional
HP:0002380HP:0002380Fasciculations0CHCHD10 CL E G H40091615559ORPHA:275872Frontotemporal dementia with motor neuron diseaseHP:0040283 - Occasional11
HP:0002380HP:0002380Fasciculations0CHCHD10 CL E G H40091615559ORPHA:276435Lower motor neuron syndrome with late-adult onsetHP:0040282 - Frequent11
HP:0002380HP:0002380Fasciculations0CHCHD10 CL E G H40091615559OMIM:615048Spinal muscular atrophy, Jokela type.11
HP:0002380HP:0002380Fasciculations0CHMP2B CL E G H2597824537ORPHA:275864Behavioral variant of frontotemporal dementiaHP:0040283 - Occasional42
HP:0002380HP:0002380Fasciculations0COL25A1 CL E G H8457018603ORPHA:1143Neurogenic arthrogryposis multiplex congenitaHP:0040283 - Occasional3
HP:0002380HP:0002380Fasciculations0CPLANE1 CL E G H6525025801ORPHA:65684Monomelic amyotrophyHP:0040283 - Occasional
HP:0002380HP:0002380Fasciculations0DCTN1 CL E G H16392711OMIM:105400Amyotrophic lateral sclerosis 1.86
HP:0002380HP:0002380Fasciculations0EGR2 CL E G H19593239OMIM:145900Hypertrophic neuropathy of dejerine-sottas58
HP:0002380HP:0002380Fasciculations0ELOVL4 CL E G H678514415OMIM:133190Spinocerebellar ataxia 34HP:0040283 - Occasional62
HP:0002380HP:0002380Fasciculations0ERGIC1 CL E G H5722229205ORPHA:1143Neurogenic arthrogryposis multiplex congenitaHP:0040283 - Occasional
HP:0002380HP:0002380Fasciculations0EXOSC3 CL E G H5101017944ORPHA:2254Pontocerebellar hypoplasia type 138
HP:0002380HP:0002380Fasciculations0EXOSC3 CL E G H5101017944OMIM:614678Pontocerebellar hypoplasia, type 1B38
HP:0002380HP:0002380Fasciculations0EXOSC8 CL E G H1134017035ORPHA:2254Pontocerebellar hypoplasia type 14
HP:0002380HP:0002380Fasciculations0EXOSC8 CL E G H1134017035OMIM:616081Pontocerebellar hypoplasia, type 1C4
HP:0002380HP:0002380Fasciculations0EXOSC9 CL E G H53939137ORPHA:2254Pontocerebellar hypoplasia type 1
HP:0002380HP:0002380Fasciculations0EXOSC9 CL E G H53939137OMIM:618065Pontocerebellar hypoplasia, type 1D.
HP:0002380HP:0002380Fasciculations0FBXO38 CL E G H8154528844OMIM:615575Neuronopathy, distal hereditary motor, type IID1
HP:0002380HP:0002380Fasciculations0FUS CL E G H25214010OMIM:608030Amyotrophic lateral sclerosis 6, with or without frontotemporal dementia.105
HP:0002380HP:0002380Fasciculations0FUS CL E G H25214010ORPHA:275872Frontotemporal dementia with motor neuron diseaseHP:0040283 - Occasional105
HP:0002380HP:0002380Fasciculations0FXR1 CL E G H80874023OMIM:618823MYOPATHY, CONGENITAL PROXIMAL, WITH MINICORE LESIONS; MYOPMIL
HP:0002380HP:0002380Fasciculations0FXR1 CL E G H80874023OMIM:618822MYOPATHY, CONGENITAL, WITH RESPIRATORY INSUFFICIENCY AND BONE FRACTURES; MYORIBF
HP:0002380HP:0002380Fasciculations0GLA CL E G H27174296OMIM:301500Fabry disease.291
HP:0002380HP:0002380Fasciculations0GLRA1 CL E G H27414326ORPHA:3197Hereditary hyperekplexiaHP:0040281 - Very frequent63
HP:0002380HP:0002380Fasciculations0GLRB CL E G H27434329ORPHA:3197Hereditary hyperekplexiaHP:0040281 - Very frequent46
HP:0002380HP:0002380Fasciculations0GPHN CL E G H1024315465ORPHA:3197Hereditary hyperekplexiaHP:0040281 - Very frequent18
HP:0002380HP:0002380Fasciculations0GRN CL E G H28964601ORPHA:275864Behavioral variant of frontotemporal dementiaHP:0040283 - Occasional126
HP:0002380HP:0002380Fasciculations0HEXB CL E G H30744879OMIM:268800Sandhoff disease.80
HP:0002380HP:0002380Fasciculations0HEXB CL E G H30744879ORPHA:309169Sandhoff disease, adult form80
HP:0002380HP:0002380Fasciculations0HEXB CL E G H30744879ORPHA:309162Sandhoff disease, juvenile form80
HP:0002380HP:0002380Fasciculations0HINT1 CL E G H30944912ORPHA:324442Autosomal recessive axonal neuropathy with neuromyotonia12
HP:0002380HP:0002380Fasciculations0HINT1 CL E G H30944912OMIM:137200Neuromyotonia and axonal neuropathy, autosomal recessive.12
HP:0002380HP:0002380Fasciculations0HNRNPA1 CL E G H31785031ORPHA:52430Inclusion body myopathy with Paget disease of bone and frontotemporal dementiaHP:0040283 - Occasional31
HP:0002380HP:0002380Fasciculations0HNRNPA2B1 CL E G H31815033ORPHA:52430Inclusion body myopathy with Paget disease of bone and frontotemporal dementiaHP:0040283 - Occasional5
HP:0002380HP:0002380Fasciculations0HSPB1 CL E G H33155246ORPHA:99940Autosomal dominant Charcot-Marie-Tooth disease type 2F47
HP:0002380HP:0002380Fasciculations0HSPB1 CL E G H33155246OMIM:606595Charcot-Marie-Tooth disease, axonal, type 2F.47
HP:0002380HP:0002380Fasciculations0JAG1 CL E G H1826188OMIM:619574CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2HH; CMT2HH257
HP:0002380HP:0002380Fasciculations0KCNK9 CL E G H513056283ORPHA:166108Intellectual disability, Birk-Barel type4
HP:0002380HP:0002380Fasciculations0KIF1C CL E G H107496317ORPHA:397946Autosomal spastic paraplegia type 58HP:0040281 - Very frequent38
HP:0002380HP:0002380Fasciculations0KIF1C CL E G H107496317OMIM:611302Spastic ataxia 2, autosomal recessive.38
HP:0002380HP:0002380Fasciculations0LGI3 CL E G H20319018711OMIM:620007
HP:0002380HP:0002380Fasciculations0LRSAM1 CL E G H9067825135OMIM:614436Charcot-Marie-Tooth disease, axonal, type 2P.102
HP:0002380HP:0002380Fasciculations0MAPT CL E G H41376893ORPHA:275864Behavioral variant of frontotemporal dementiaHP:0040283 - Occasional140
HP:0002380HP:0002380Fasciculations0MEGF10 CL E G H8446629634OMIM:614399Myopathy, areflexia, respiratory distress, and dysphagia, early-onset158
HP:0002380HP:0002380Fasciculations0MINPP1 CL E G H95627102ORPHA:284339Pontocerebellar hypoplasia type 7HP:0040282 - Frequent3
HP:0002380HP:0002380Fasciculations0MORC2 CL E G H2288023573ORPHA:466768Autosomal dominant Charcot-Marie-Tooth disease type 2ZHP:0040283 - Occasional8
HP:0002380HP:0002380Fasciculations0MORC2 CL E G H2288023573OMIM:616688Charcot-Marie-Tooth disease, axonal, type 2Z.8
HP:0002380HP:0002380Fasciculations0MPZ CL E G H43597225OMIM:145900Hypertrophic neuropathy of dejerine-sottas134
HP:0002380HP:0002380Fasciculations0NDUFS4 CL E G H47247711OMIM:252010Mitochondrial complex I deficiency, nuclear type 127
HP:0002380HP:0002380Fasciculations0NEFH CL E G H47447737OMIM:105400Amyotrophic lateral sclerosis 1.24
HP:0002380HP:0002380Fasciculations0NEFL CL E G H47477739ORPHA:101085Charcot-Marie-Tooth disease type 1FHP:0040283 - Occasional118
HP:0002380HP:0002380Fasciculations0NOP56 CL E G H1052815911OMIM:614153Spinocerebellar ataxia 369
HP:0002380HP:0002380Fasciculations0NOP56 CL E G H1052815911ORPHA:276198Spinocerebellar ataxia type 36HP:0040282 - Frequent9
HP:0002380HP:0002380Fasciculations0OPTN CL E G H1013317142OMIM:613435Amyotrophic lateral sclerosis 1262
HP:0002380HP:0002380Fasciculations0PFN1 CL E G H52168881OMIM:614808AMYOTROPHIC LATERAL SCLEROSIS 18; ALS186
HP:0002380HP:0002380Fasciculations0PMP22 CL E G H53769118OMIM:145900Hypertrophic neuropathy of dejerine-sottas79
HP:0002380HP:0002380Fasciculations0PNPLA2 CL E G H5710430802OMIM:610717Neutral lipid storage disease with myopathy.65
HP:0002380HP:0002380Fasciculations0PNPLA2 CL E G H5710430802ORPHA:98908Neutral lipid storage myopathyHP:0040282 - Frequent65
HP:0002380HP:0002380Fasciculations0PRPH CL E G H56309461OMIM:105400Amyotrophic lateral sclerosis 1.25
HP:0002380HP:0002380Fasciculations0PRRT2 CL E G H11247630500ORPHA:569Familial or sporadic hemiplegic migraine94
HP:0002380HP:0002380Fasciculations0PRUNE1 CL E G H5849713420ORPHA:544469PRUNE1-related neurological syndrome8
HP:0002380HP:0002380Fasciculations0PRX CL E G H5771613797OMIM:145900Hypertrophic neuropathy of dejerine-sottas170
HP:0002380HP:0002380Fasciculations0PSAP CL E G H56609498OMIM:611721Combined saposin deficiency.81
HP:0002380HP:0002380Fasciculations0PSEN1 CL E G H56639508ORPHA:275864Behavioral variant of frontotemporal dementiaHP:0040283 - Occasional241
HP:0002380HP:0002380Fasciculations0RAB7A CL E G H78799788OMIM:600882Charcot-Marie-Tooth disease, axonal, type 2B50
HP:0002380HP:0002380Fasciculations0RMND1 CL E G H5500521176OMIM:614922Combined oxidative phosphorylation deficiency 1126
HP:0002380HP:0002380Fasciculations0RYR1 CL E G H626110483ORPHA:324581Benign Samaritan congenital myopathyHP:0040283 - Occasional1200
HP:0002380HP:0002380Fasciculations0SCN1A CL E G H632310585ORPHA:569Familial or sporadic hemiplegic migraine1053
HP:0002380HP:0002380Fasciculations0SCN4A CL E G H632910591ORPHA:682Hyperkalemic periodic paralysisHP:0040282 - Frequent263
HP:0002380HP:0002380Fasciculations0SCO2 CL E G H999710604ORPHA:521411Autosomal recessive axonal Charcot-Marie-Tooth disease due to copper metabolism defectHP:0040282 - Frequent40
HP:0002380HP:0002380Fasciculations0SCYL2 CL E G H5568119286ORPHA:1143Neurogenic arthrogryposis multiplex congenitaHP:0040283 - Occasional
HP:0002380HP:0002380Fasciculations0SH3TC2 CL E G H7962829427ORPHA:99949Charcot-Marie-Tooth disease type 4C493
HP:0002380HP:0002380Fasciculations0SH3TC2 CL E G H7962829427OMIM:601596Charcot-Marie-Tooth disease, type 4C493
HP:0002380HP:0002380Fasciculations0SLC25A21 CL E G H8987414411OMIM:618811MITOCHONDRIAL DNA DEPLETION SYNDROME 18; MTDPS18
HP:0002380HP:0002380Fasciculations0SLC25A46 CL E G H9113725198ORPHA:2254Pontocerebellar hypoplasia type 114
HP:0002380HP:0002380Fasciculations0SLC52A2 CL E G H7958130224OMIM:614707Brown-Vialetto-Van laere syndrome 247
HP:0002380HP:0002380Fasciculations0SLC52A3 CL E G H11327816187OMIM:211530Brown-Vialetto-Van laere syndrome 151
HP:0002380HP:0002380Fasciculations0SLC6A5 CL E G H915211051ORPHA:3197Hereditary hyperekplexiaHP:0040281 - Very frequent81
HP:0002380HP:0002380Fasciculations0SMN1 CL E G H660611117OMIM:253300Spinal muscular atrophy, type I22
HP:0002380HP:0002380Fasciculations0SMN1 CL E G H660611117OMIM:253550Spinal muscular atrophy, type II22
HP:0002380HP:0002380Fasciculations0SMN1 CL E G H660611117OMIM:253400Spinal muscular atrophy, type III22
HP:0002380HP:0002380Fasciculations0SMN1 CL E G H660611117OMIM:271150Spinal muscular atrophy, type IV22
HP:0002380HP:0002380Fasciculations0SMN2 CL E G H660711118OMIM:253400Spinal muscular atrophy, type III1
HP:0002380HP:0002380Fasciculations0SOD1 CL E G H664711179OMIM:105400Amyotrophic lateral sclerosis 1.53
HP:0002380HP:0002380Fasciculations0SOD1 CL E G H664711179OMIM:618598SPASTIC TETRAPLEGIA AND AXIAL HYPOTONIA, PROGRESSIVE; STAHP53
HP:0002380HP:0002380Fasciculations0SPG11 CL E G H8020811226OMIM:602099Amyotrophic lateral sclerosis 5, juvenile.287
HP:0002380HP:0002380Fasciculations0SPTLC1 CL E G H1055811277OMIM:162400Neuropathy, hereditary sensory and autonomic, type IA54
HP:0002380HP:0002380Fasciculations0SQSTM1 CL E G H887811280ORPHA:275864Behavioral variant of frontotemporal dementiaHP:0040283 - Occasional62
HP:0002380HP:0002380Fasciculations0SQSTM1 CL E G H887811280OMIM:616437Frontotemporal dementia and/or amyotrophic lateral sclerosis 3.62
HP:0002380HP:0002380Fasciculations0SQSTM1 CL E G H887811280ORPHA:275872Frontotemporal dementia with motor neuron diseaseHP:0040283 - Occasional62
HP:0002380HP:0002380Fasciculations0SYNE1 CL E G H2334517089ORPHA:88644Autosomal recessive ataxia, Beauce typeHP:0040282 - Frequent1129
HP:0002380HP:0002380Fasciculations0SYT2 CL E G H12783311510OMIM:619461MYASTHENIC SYNDROME, CONGENITAL, 7B, PRESYNAPTIC, AUTOSOMAL RECESSIVE; CMS7B4
HP:0002380HP:0002380Fasciculations0TARDBP CL E G H2343511571ORPHA:275872Frontotemporal dementia with motor neuron diseaseHP:0040283 - Occasional65
HP:0002380HP:0002380Fasciculations0TBCD CL E G H690411581ORPHA:496641Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndromeHP:0040283 - Occasional16
HP:0002380HP:0002380Fasciculations0TBCD CL E G H690411581OMIM:617193ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND THIN CORPUS CALLOSUM; PEBAT16
HP:0002380HP:0002380Fasciculations0TBK1 CL E G H2911011584OMIM:616439Frontotemporal dementia and/or amyotrophic lateral sclerosis 4.20
HP:0002380HP:0002380Fasciculations0TBK1 CL E G H2911011584ORPHA:275872Frontotemporal dementia with motor neuron diseaseHP:0040283 - Occasional20
HP:0002380HP:0002380Fasciculations0TFG CL E G H1034211758ORPHA:90117Hereditary motor and sensory neuropathy, Okinawa type18
HP:0002380HP:0002380Fasciculations0TFG CL E G H1034211758OMIM:604484Neuropathy, hereditary motor and sensory, Okinawa type.18
HP:0002380HP:0002380Fasciculations0TMEM106B CL E G H5466422407ORPHA:275864Behavioral variant of frontotemporal dementiaHP:0040283 - Occasional
HP:0002380HP:0002380Fasciculations0TOE1 CL E G H11403415954ORPHA:284339Pontocerebellar hypoplasia type 7HP:0040282 - Frequent6
HP:0002380HP:0002380Fasciculations0TOE1 CL E G H11403415954OMIM:614969Pontocerebellar hypoplasia, type 76
HP:0002380HP:0002380Fasciculations0TREM2 CL E G H5420917761ORPHA:275864Behavioral variant of frontotemporal dementiaHP:0040283 - Occasional31
HP:0002380HP:0002380Fasciculations0TSPYL1 CL E G H725912382OMIM:608800Sudden infant death with dysgenesis of the testes syndrome1
HP:0002380HP:0002380Fasciculations0UBA1 CL E G H731712469ORPHA:1145Infantile-onset X-linked spinal muscular atrophy35
HP:0002380HP:0002380Fasciculations0UBA1 CL E G H731712469OMIM:301830Spinal muscular atrophy, X-linked 235
HP:0002380HP:0002380Fasciculations0UCHL1 CL E G H734512513OMIM:615491Spastic paraplegia 79, autosomal recessive.21
HP:0002380HP:0002380Fasciculations0VAPB CL E G H921712649OMIM:608627Amyotrophic lateral sclerosis 8116
HP:0002380HP:0002380Fasciculations0VAPB CL E G H921712649OMIM:182980Spinal muscular atrophy, proximal, adult, autosomal dominantspinal muscular atrophy, late-onset, finkel type, included.116
HP:0002380HP:0002380Fasciculations0VCP CL E G H741512666ORPHA:329478Adult-onset distal myopathy due to VCP mutationHP:0040282 - Frequent63
HP:0002380HP:0002380Fasciculations0VCP CL E G H741512666OMIM:613954Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia.63
HP:0002380HP:0002380Fasciculations0VCP CL E G H741512666ORPHA:275864Behavioral variant of frontotemporal dementiaHP:0040283 - Occasional63
HP:0002380HP:0002380Fasciculations0VCP CL E G H741512666ORPHA:275872Frontotemporal dementia with motor neuron diseaseHP:0040283 - Occasional63
HP:0002380HP:0002380Fasciculations0VCP CL E G H741512666ORPHA:52430Inclusion body myopathy with Paget disease of bone and frontotemporal dementiaHP:0040283 - Occasional63
HP:0002380HP:0002380Fasciculations0VCP CL E G H741512666ORPHA:329475Spastic paraplegia-Paget disease of bone syndrome63
HP:0002380HP:0002380Fasciculations0VPS13D CL E G H5518723595ORPHA:95434Autosomal recessive cerebellar ataxia-movement disorder syndromeHP:0040282 - Frequent
HP:0002380HP:0002380Fasciculations0VPS13D CL E G H5518723595OMIM:607317Spinocerebellar ataxia, autosomal recessive 4.
HP:0002380HP:0002380Fasciculations0VPS41 CL E G H2707212713ORPHA:95434Autosomal recessive cerebellar ataxia-movement disorder syndromeHP:0040282 - Frequent
HP:0002380HP:0002380Fasciculations0VRK1 CL E G H744312718ORPHA:2254Pontocerebellar hypoplasia type 132
HP:0002380HP:0002380Fasciculations0VRK1 CL E G H744312718OMIM:607596Pontocerebellar hypoplasia type 1A.32
HP:0002380HP:0002380Fasciculations0VWA1 CL E G H6485630910OMIM:619216NEUROPATHY, HEREDITARY MOTOR, WITH MYOPATHIC FEATURES; HMNMYO
HP:0002380HP:0001308Tongue fasciculations1ADPRS CL E G H5493621304OMIM:618170Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures.
HP:0002380HP:0001308Tongue fasciculations1AGTPBP1 CL E G H2328717258OMIM:618276Neurodegeneration, childhood-onset, with cerebellar atrophyHP:0040284 - Very rare1
HP:0002380HP:0001308Tongue fasciculations1AGTPBP1 CL E G H2328717258ORPHA:2254Pontocerebellar hypoplasia type 11
HP:0002380HP:0001308Tongue fasciculations1AIFM1 CL E G H91318768OMIM:300816Combined oxidative phosphorylation deficiency 660
HP:0002380HP:0001308Tongue fasciculations1AIFM1 CL E G H91318768ORPHA:238329Severe X-linked mitochondrial encephalomyopathyHP:0040282 - Frequent60
HP:0002380HP:0001308Tongue fasciculations1ASAH1 CL E G H427735OMIM:159950Spinal muscular atrophy with progressive myoclonic epilepsy.78
HP:0002380HP:0001308Tongue fasciculations1ATP11A CL E G H2325013552OMIM:619851LEUKODYSTROPHY, HYPOMYELINATING, 24; HLD24
HP:0002380HP:0001308Tongue fasciculations1ATP1A2 CL E G H477800ORPHA:569Familial or sporadic hemiplegic migraineHP:0040282 - Frequent239
HP:0002380HP:0007289Limb fasciculations1ATXN10 CL E G H2581410549OMIM:603516Spinocerebellar ataxia 109
HP:0002380HP:0007089Facial-lingual fasciculations1ATXN3 CL E G H42877106OMIM:109150Machado-Joseph disease.14
HP:0002380HP:0007089Facial-lingual fasciculations1ATXN3 CL E G H42877106ORPHA:276238Machado-Joseph disease type 1HP:0040282 - Frequent14
HP:0002380HP:0007089Facial-lingual fasciculations1ATXN3 CL E G H42877106ORPHA:276241Machado-Joseph disease type 2HP:0040282 - Frequent14
HP:0002380HP:0007089Facial-lingual fasciculations1ATXN3 CL E G H42877106ORPHA:276244Machado-Joseph disease type 3HP:0040282 - Frequent14
HP:0002380HP:0001308Tongue fasciculations1CACNA1A CL E G H7731388ORPHA:569Familial or sporadic hemiplegic migraineHP:0040282 - Frequent449
HP:0002380HP:0001308Tongue fasciculations1CHCHD10 CL E G H40091615559ORPHA:276435Lower motor neuron syndrome with late-adult onsetHP:0040283 - Occasional11
HP:0002380HP:0001308Tongue fasciculations1EGR2 CL E G H19593239OMIM:145900Hypertrophic neuropathy of dejerine-sottas58
HP:0002380HP:0001308Tongue fasciculations1EXOSC3 CL E G H5101017944ORPHA:2254Pontocerebellar hypoplasia type 138
HP:0002380HP:0001308Tongue fasciculations1EXOSC3 CL E G H5101017944OMIM:614678Pontocerebellar hypoplasia, type 1B.38
HP:0002380HP:0001308Tongue fasciculations1EXOSC8 CL E G H1134017035ORPHA:2254Pontocerebellar hypoplasia type 14
HP:0002380HP:0001308Tongue fasciculations1EXOSC8 CL E G H1134017035OMIM:616081Pontocerebellar hypoplasia, type 1C4
HP:0002380HP:0001308Tongue fasciculations1EXOSC9 CL E G H53939137ORPHA:2254Pontocerebellar hypoplasia type 1
HP:0002380HP:0001308Tongue fasciculations1EXOSC9 CL E G H53939137OMIM:618065Pontocerebellar hypoplasia, type 1D
HP:0002380HP:0001308Tongue fasciculations1FXR1 CL E G H80874023OMIM:618823MYOPATHY, CONGENITAL PROXIMAL, WITH MINICORE LESIONS; MYOPMIL
HP:0002380HP:0001308Tongue fasciculations1FXR1 CL E G H80874023OMIM:618822MYOPATHY, CONGENITAL, WITH RESPIRATORY INSUFFICIENCY AND BONE FRACTURES; MYORIBF
HP:0002380HP:0007289Limb fasciculations1HINT1 CL E G H30944912ORPHA:324442Autosomal recessive axonal neuropathy with neuromyotoniaHP:0040282 - Frequent12
HP:0002380HP:0007289Limb fasciculations1HSPB1 CL E G H33155246ORPHA:99940Autosomal dominant Charcot-Marie-Tooth disease type 2FHP:0040281 - Very frequent47
HP:0002380HP:0001308Tongue fasciculations1KCNK9 CL E G H513056283ORPHA:166108Intellectual disability, Birk-Barel typeHP:0040283 - Occasional4
HP:0002380HP:0001308Tongue fasciculations1LGI3 CL E G H20319018711OMIM:620007
HP:0002380HP:0001308Tongue fasciculations1MEGF10 CL E G H8446629634OMIM:614399Myopathy, areflexia, respiratory distress, and dysphagia, early-onset158
HP:0002380HP:0001308Tongue fasciculations1MPZ CL E G H43597225OMIM:145900Hypertrophic neuropathy of dejerine-sottas134
HP:0002380HP:0001308Tongue fasciculations1NDUFS4 CL E G H47247711OMIM:252010Mitochondrial complex I deficiency, nuclear type 127
HP:0002380HP:0001308Tongue fasciculations1NOP56 CL E G H1052815911OMIM:614153Spinocerebellar ataxia 369
HP:0002380HP:0001308Tongue fasciculations1NOP56 CL E G H1052815911ORPHA:276198Spinocerebellar ataxia type 36HP:0040282 - Frequent9
HP:0002380HP:0001308Tongue fasciculations1OPTN CL E G H1013317142OMIM:613435Amyotrophic lateral sclerosis 12.62
HP:0002380HP:0001308Tongue fasciculations1PMP22 CL E G H53769118OMIM:145900Hypertrophic neuropathy of dejerine-sottas79
HP:0002380HP:0001308Tongue fasciculations1PRRT2 CL E G H11247630500ORPHA:569Familial or sporadic hemiplegic migraineHP:0040282 - Frequent94
HP:0002380HP:0001308Tongue fasciculations1PRUNE1 CL E G H5849713420ORPHA:544469PRUNE1-related neurological syndrome8
HP:0002380HP:0001308Tongue fasciculations1PRX CL E G H5771613797OMIM:145900Hypertrophic neuropathy of dejerine-sottas170
HP:0002380HP:0001308Tongue fasciculations1RMND1 CL E G H5500521176OMIM:614922Combined oxidative phosphorylation deficiency 11HP:0040283 - Occasional26
HP:0002380HP:0001308Tongue fasciculations1SCN1A CL E G H632310585ORPHA:569Familial or sporadic hemiplegic migraineHP:0040282 - Frequent1053
HP:0002380HP:0001308Tongue fasciculations1SH3TC2 CL E G H7962829427ORPHA:99949Charcot-Marie-Tooth disease type 4CHP:0040283 - Occasional493
HP:0002380HP:0001308Tongue fasciculations1SH3TC2 CL E G H7962829427OMIM:601596Charcot-Marie-Tooth disease, type 4C.493
HP:0002380HP:0001308Tongue fasciculations1SLC25A21 CL E G H8987414411OMIM:618811MITOCHONDRIAL DNA DEPLETION SYNDROME 18; MTDPS18
HP:0002380HP:0001308Tongue fasciculations1SLC25A46 CL E G H9113725198ORPHA:2254Pontocerebellar hypoplasia type 114
HP:0002380HP:0001308Tongue fasciculations1SLC52A2 CL E G H7958130224OMIM:614707Brown-Vialetto-Van laere syndrome 2.47
HP:0002380HP:0001308Tongue fasciculations1SLC52A3 CL E G H11327816187OMIM:211530Brown-Vialetto-Van laere syndrome 1.51
HP:0002380HP:0001308Tongue fasciculations1SMN1 CL E G H660611117OMIM:253300Spinal muscular atrophy, type I.22
HP:0002380HP:0001308Tongue fasciculations1SMN1 CL E G H660611117OMIM:253550Spinal muscular atrophy, type II.22
HP:0002380HP:0007289Limb fasciculations1SMN1 CL E G H660611117OMIM:253400Spinal muscular atrophy, type III.22
HP:0002380HP:0001308Tongue fasciculations1SMN1 CL E G H660611117OMIM:253400Spinal muscular atrophy, type III.22
HP:0002380HP:0001308Tongue fasciculations1SMN1 CL E G H660611117OMIM:271150Spinal muscular atrophy, type IV.22
HP:0002380HP:0007289Limb fasciculations1SMN2 CL E G H660711118OMIM:253400Spinal muscular atrophy, type III.1
HP:0002380HP:0001308Tongue fasciculations1SMN2 CL E G H660711118OMIM:253400Spinal muscular atrophy, type III.1
HP:0002380HP:0001308Tongue fasciculations1SPTLC1 CL E G H1055811277OMIM:162400Neuropathy, hereditary sensory and autonomic, type IA54
HP:0002380HP:0001308Tongue fasciculations1SYT2 CL E G H12783311510OMIM:619461MYASTHENIC SYNDROME, CONGENITAL, 7B, PRESYNAPTIC, AUTOSOMAL RECESSIVE; CMS7B4
HP:0002380HP:0001308Tongue fasciculations1TBCD CL E G H690411581OMIM:617193ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND THIN CORPUS CALLOSUM; PEBAT16
HP:0002380HP:0007289Limb fasciculations1TFG CL E G H1034211758ORPHA:90117Hereditary motor and sensory neuropathy, Okinawa typeHP:0040282 - Frequent18
HP:0002380HP:0001308Tongue fasciculations1TOE1 CL E G H11403415954OMIM:614969Pontocerebellar hypoplasia, type 76
HP:0002380HP:0001308Tongue fasciculations1TSPYL1 CL E G H725912382OMIM:608800Sudden infant death with dysgenesis of the testes syndrome.1
HP:0002380HP:0001308Tongue fasciculations1UBA1 CL E G H731712469ORPHA:1145Infantile-onset X-linked spinal muscular atrophyHP:0040283 - Occasional35
HP:0002380HP:0001308Tongue fasciculations1UBA1 CL E G H731712469OMIM:301830Spinal muscular atrophy, X-linked 2.35
HP:0002380HP:0001308Tongue fasciculations1VCP CL E G H741512666ORPHA:329475Spastic paraplegia-Paget disease of bone syndromeHP:0040282 - Frequent63
HP:0002380HP:0007289Limb fasciculations1VCP CL E G H741512666ORPHA:329475Spastic paraplegia-Paget disease of bone syndromeHP:0040282 - Frequent63
HP:0002380HP:0001308Tongue fasciculations1VRK1 CL E G H744312718ORPHA:2254Pontocerebellar hypoplasia type 132
HP:0002380HP:0001308Tongue fasciculations1VRK1 CL E G H744312718OMIM:607596Pontocerebellar hypoplasia type 1A32
HP:0002380HP:0001308Tongue fasciculations1VWA1 CL E G H6485630910OMIM:619216NEUROPATHY, HEREDITARY MOTOR, WITH MYOPATHIC FEATURES; HMNMYO
HP:0002380HP:0032507Labiomental fasciculations2 CL E G H


Genes (104) :ADPRS AGTPBP1 AIFM1 ANO10 ANXA11 AR ASAH1 ATAD1 ATP11A ATP1A2 ATXN1 ATXN10 ATXN2 ATXN3 BICD2 C9ORF72 CACNA1A CCNF CEP126 CHCHD10 CHMP2B COL25A1 CPLANE1 DCTN1 EGR2 ELOVL4 ERGIC1 EXOSC3 EXOSC8 EXOSC9 FBXO38 FUS FXR1 GLA GLRA1 GLRB GPHN GRN HEXB HINT1 HNRNPA1 HNRNPA2B1 HSPB1 JAG1 KCNK9 KIF1C LGI3 LRSAM1 MAPT MEGF10 MINPP1 MORC2 MPZ NDUFS4 NEFH NEFL NOP56 OPTN PFN1 PMP22 PNPLA2 PRPH PRRT2 PRUNE1 PRX PSAP PSEN1 RAB7A RMND1 RYR1 SCN1A SCN4A SCO2 SCYL2 SH3TC2 SLC25A21 SLC25A46 SLC52A2 SLC52A3 SLC6A5 SMN1 SMN2 SOD1 SPG11 SPTLC1 SQSTM1 SYNE1 SYT2 TARDBP TBCD TBK1 TFG TMEM106B TOE1 TREM2 TSPYL1 UBA1 UCHL1 VAPB VCP VPS13D VPS41 VRK1 VWA1

Diseases (108) :OMIM:618170 OMIM:618276 ORPHA:2254 OMIM:300816 ORPHA:238329 ORPHA:284289 OMIM:613728 OMIM:619733 OMIM:313200 OMIM:159950 ORPHA:3197 OMIM:619851 ORPHA:569 OMIM:164400 ORPHA:98755 OMIM:603516 OMIM:183090 ORPHA:98756 OMIM:109150 ORPHA:276238 ORPHA:276241 ORPHA:276244 OMIM:615290 ORPHA:275864 ORPHA:275872 OMIM:619141 ORPHA:65684 ORPHA:276435 OMIM:615048 ORPHA:1143 OMIM:105400 OMIM:145900 OMIM:133190 OMIM:614678 OMIM:616081 OMIM:618065 OMIM:615575 OMIM:608030 OMIM:618823 OMIM:618822 OMIM:301500 OMIM:268800 ORPHA:309169 ORPHA:309162 ORPHA:324442 OMIM:137200 ORPHA:52430 ORPHA:99940 OMIM:606595 OMIM:619574 ORPHA:166108 ORPHA:397946 OMIM:611302 OMIM:620007 OMIM:614436 OMIM:614399 ORPHA:284339 ORPHA:466768 OMIM:616688 OMIM:252010 ORPHA:101085 OMIM:614153 ORPHA:276198 OMIM:613435 OMIM:614808 OMIM:610717 ORPHA:98908 ORPHA:544469 OMIM:611721 OMIM:600882 OMIM:614922 ORPHA:324581 ORPHA:682 ORPHA:521411 ORPHA:99949 OMIM:601596 OMIM:618811 OMIM:614707 OMIM:211530 OMIM:253300 OMIM:253550 OMIM:253400 OMIM:271150 OMIM:618598 OMIM:602099 OMIM:162400 OMIM:616437 ORPHA:88644 OMIM:619461 ORPHA:496641 OMIM:617193 OMIM:616439 ORPHA:90117 OMIM:604484 OMIM:614969 OMIM:608800 ORPHA:1145 OMIM:301830 OMIM:615491 OMIM:608627 OMIM:182980 ORPHA:329478 OMIM:613954 ORPHA:329475 ORPHA:95434 OMIM:607317 OMIM:607596 OMIM:619216
 

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