Human Phenotype Ontology 
Grandparent Node:
expand
Behavioral abnormality (HP:0000708)help
Parent Node:
expand
Restlessness (HP:0000711)help
..Starting node
..expand
Agitation (HP:0000713)help
Term ID: 713
Name: Agitation
Synonym:
Definition: A state of exceeding restlessness and excessive motor activity associated with mental distress or a feeling of inner tension.
Comments:
Reference: HP:0000713
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
InputHPO IDHPO termDistanceGeneGene id entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0000713HP:0000713Agitation0ABCA7 CL E G H1034737ORPHA:1020Early-onset autosomal dominant Alzheimer diseaseHP:0040281 - Very frequent3
HP:0000713HP:0000713Agitation0ABCC8 CL E G H683359ORPHA:276575Autosomal dominant hyperinsulinism due to SUR1 deficiencyHP:0040282 - Frequent245
HP:0000713HP:0000713Agitation0ACAT1 CL E G H3893ORPHA:134Beta-ketothiolase deficiencyHP:0040283 - Occasional91
HP:0000713HP:0000713Agitation0ADA2 CL E G H518161839OMIM:615688Vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome.22
HP:0000713HP:0000713Agitation0ADCY5 CL E G H111236OMIM:619651NEURODEVELOPMENTAL DISORDER WITH HYPERKINETIC MOVEMENTS AND DYSKINESIA; NEDHYD25
HP:0000713HP:0000713Agitation0AFF2 CL E G H23343776ORPHA:100973FRAXE intellectual disabilityHP:0040282 - Frequent59
HP:0000713HP:0000713Agitation0AFF2 CL E G H23343776OMIM:309548Mental retardation, X-linked, associated with fragile site fraxe.59
HP:0000713HP:0000713Agitation0ALAD CL E G H210395ORPHA:100924Porphyria due to ALA dehydratase deficiencyHP:0040283 - Occasional62
HP:0000713HP:0000713Agitation0ANG CL E G H283483ORPHA:803Amyotrophic lateral sclerosisHP:0040283 - Occasional32
HP:0000713HP:0000713Agitation0ANXA11 CL E G H311535ORPHA:803Amyotrophic lateral sclerosisHP:0040283 - Occasional
HP:0000713HP:0000713Agitation0APP CL E G H351620ORPHA:1020Early-onset autosomal dominant Alzheimer diseaseHP:0040281 - Very frequent74
HP:0000713HP:0000713Agitation0ATP6V0A1 CL E G H535865OMIM:6199701
HP:0000713HP:0000713Agitation0ATXN2 CL E G H631110555ORPHA:803Amyotrophic lateral sclerosisHP:0040283 - Occasional11
HP:0000713HP:0000713Agitation0BRAT1 CL E G H22192721701OMIM:618056Neurodevelopmental disorder with cerebellar atrophy and with or without seizures.20
HP:0000713HP:0000713Agitation0C9ORF72 CL E G H20322828337ORPHA:803Amyotrophic lateral sclerosisHP:0040283 - Occasional56
HP:0000713HP:0000713Agitation0CACNA1A CL E G H7731388OMIM:141500Migraine, familial hemiplegic, 1.449
HP:0000713HP:0000713Agitation0CCNF CL E G H8991591ORPHA:803Amyotrophic lateral sclerosisHP:0040283 - Occasional
HP:0000713HP:0000713Agitation0CDKL5 CL E G H679211411ORPHA:3095Atypical Rett syndromeHP:0040281 - Very frequent405
HP:0000713HP:0000713Agitation0CFAP410 CL E G H7551260ORPHA:803Amyotrophic lateral sclerosisHP:0040283 - Occasional
HP:0000713HP:0000713Agitation0CHCHD10 CL E G H40091615559ORPHA:803Amyotrophic lateral sclerosisHP:0040283 - Occasional11
HP:0000713HP:0000713Agitation0CHMP2B CL E G H2597824537ORPHA:803Amyotrophic lateral sclerosisHP:0040283 - Occasional42
HP:0000713HP:0000713Agitation0COX10 CL E G H13522260OMIM:619046MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 3; MC4DN382
HP:0000713HP:0000713Agitation0CYP27A1 CL E G H15932605ORPHA:909Cerebrotendinous xanthomatosisHP:0040283 - Occasional114
HP:0000713HP:0000713Agitation0DAO CL E G H16102671ORPHA:803Amyotrophic lateral sclerosisHP:0040283 - Occasional
HP:0000713HP:0000713Agitation0DCDC2 CL E G H5147318141ORPHA:84081Senior-Boichis syndrome8
HP:0000713HP:0000713Agitation0DCTN1 CL E G H16392711ORPHA:803Amyotrophic lateral sclerosisHP:0040283 - Occasional86
HP:0000713HP:0000713Agitation0DCX CL E G H16412714ORPHA:2148Lissencephaly type 1 due to doublecortin gene mutationHP:0040283 - Occasional145
HP:0000713HP:0000713Agitation0DEAF1 CL E G H1052214677OMIM:617171Dyskinesia, seizures, and intellectual developmental disorder.33
HP:0000713HP:0000713Agitation0DEAF1 CL E G H1052214677ORPHA:468620Intellectual disability-epilepsy-extrapyramidal syndromeHP:0040283 - Occasional33
HP:0000713HP:0000713Agitation0DNAJC13 CL E G H2331730343ORPHA:411602Hereditary late-onset Parkinson diseaseHP:0040283 - Occasional2
HP:0000713HP:0000713Agitation0DNAJC6 CL E G H982915469ORPHA:2828Young-onset Parkinson diseaseHP:0040284 - Very rare6
HP:0000713HP:0000713Agitation0ECE1 CL E G H18893146OMIM:613870Hirschsprung disease, cardiac defects, and autonomic dysfunction.13
HP:0000713HP:0000713Agitation0EIF2S3 CL E G H19683267ORPHA:85282MEHMO syndromeHP:0040282 - Frequent8
HP:0000713HP:0000713Agitation0EIF4G1 CL E G H19813296ORPHA:411602Hereditary late-onset Parkinson diseaseHP:0040283 - Occasional2
HP:0000713HP:0000713Agitation0EPHA4 CL E G H20433388ORPHA:803Amyotrophic lateral sclerosisHP:0040283 - Occasional4
HP:0000713HP:0000713Agitation0ERBB4 CL E G H20663432ORPHA:803Amyotrophic lateral sclerosisHP:0040283 - Occasional15
HP:0000713HP:0000713Agitation0FIG4 CL E G H989616873ORPHA:803Amyotrophic lateral sclerosisHP:0040283 - Occasional111
HP:0000713HP:0000713Agitation0FUS CL E G H25214010ORPHA:803Amyotrophic lateral sclerosisHP:0040283 - Occasional105
HP:0000713HP:0000713Agitation0GABBR2 CL E G H95684507ORPHA:3095Atypical Rett syndromeHP:0040281 - Very frequent5
HP:0000713HP:0000713Agitation0GABBR2 CL E G H95684507OMIM:617903Neurodevelopmental disorder with poor language and loss of hand skills.5
HP:0000713HP:0000713Agitation0GBA1 CL E G H26294177ORPHA:411602Hereditary late-onset Parkinson diseaseHP:0040283 - Occasional
HP:0000713HP:0000713Agitation0GIGYF2 CL E G H2605811960ORPHA:411602Hereditary late-onset Parkinson diseaseHP:0040283 - Occasional8
HP:0000713HP:0000713Agitation0GLE1 CL E G H27334315ORPHA:803Amyotrophic lateral sclerosisHP:0040283 - Occasional45
HP:0000713HP:0000713Agitation0GLS CL E G H27444331OMIM:618339Infantile cataract, skin abnormalities, glutamate excess, and impaired intellectual development
HP:0000713HP:0000713Agitation0GLT8D1 CL E G H5583024870ORPHA:803Amyotrophic lateral sclerosisHP:0040283 - Occasional
HP:0000713HP:0000713Agitation0GNAS CL E G H27784392OMIM:219080ACTH-independent macronodular adrenal hyperplasia.101
HP:0000713HP:0000713Agitation0GNS CL E G H27994422OMIM:252940Mucopolysaccharidosis, type IIID69
HP:0000713HP:0000713Agitation0GRN CL E G H28964601OMIM:607485Frontotemporal lobar degeneration with TDP43 inclusions.126
HP:0000713HP:0000713Agitation0H4C5 CL E G H83674790OMIM:619950
HP:0000713HP:0000713Agitation0HNF1A CL E G H692711621ORPHA:324575Hyperinsulinism due to HNF1A deficiencyHP:0040282 - Frequent161
HP:0000713HP:0000713Agitation0HNF4A CL E G H31725024ORPHA:263455Hyperinsulinism due to HNF4A deficiencyHP:0040281 - Very frequent138
HP:0000713HP:0000713Agitation0HNRNPA1 CL E G H31785031ORPHA:803Amyotrophic lateral sclerosisHP:0040283 - Occasional31
HP:0000713HP:0000713Agitation0HSD17B10 CL E G H30284800OMIM:300438HSD10 mitochondrial disease.19
HP:0000713HP:0000713Agitation0HTRA2 CL E G H2742914348ORPHA:2828Young-onset Parkinson diseaseHP:0040284 - Very rare39
HP:0000713HP:0000713Agitation0HTT CL E G H30644851ORPHA:399Huntington diseaseHP:0040282 - Frequent12
HP:0000713HP:0000713Agitation0HTT CL E G H30644851OMIM:617435Lopes-Maciel-Rodan syndrome.12
HP:0000713HP:0000713Agitation0IGF1R CL E G H34805465OMIM:270450Insulin-Like growth factor I, resistance to.268
HP:0000713HP:0000713Agitation0KCNJ11 CL E G H37676257ORPHA:276580Autosomal dominant hyperinsulinism due to Kir6.2 deficiencyHP:0040282 - Frequent127
HP:0000713HP:0000713Agitation0KIF11 CL E G H38326388OMIM:152950Microcephaly with or without chorioretinopathy, lymphedema, or mental retardationHP:0040283 - Occasional46
HP:0000713HP:0000713Agitation0LRRK2 CL E G H12089218618ORPHA:411602Hereditary late-onset Parkinson diseaseHP:0040283 - Occasional221
HP:0000713HP:0000713Agitation0LRRK2 CL E G H12089218618ORPHA:2828Young-onset Parkinson diseaseHP:0040284 - Very rare221
HP:0000713HP:0000713Agitation0LSS CL E G H40476708OMIM:618840ALOPECIA-INTELLECTUAL DISABILITY SYNDROME 4; APMR42
HP:0000713HP:0000713Agitation0MATR3 CL E G H97826912ORPHA:803Amyotrophic lateral sclerosisHP:0040283 - Occasional80
HP:0000713HP:0000713Agitation0MECP2 CL E G H42046990ORPHA:3095Atypical Rett syndromeHP:0040281 - Very frequent950
HP:0000713HP:0000713Agitation0MECP2 CL E G H42046990ORPHA:778Rett syndromeHP:0040283 - Occasional950
HP:0000713HP:0000713Agitation0MED13L CL E G H2338922962ORPHA:369891Developmental delay-facial dysmorphism syndrome due to MED13L deficiencyHP:0040283 - Occasional74
HP:0000713HP:0000713Agitation0NAGS CL E G H16241717996ORPHA:927Hyperammonemia due to N-acetylglutamate synthase deficiencyHP:0040283 - Occasional36
HP:0000713HP:0000713Agitation0NDST1 CL E G H33407680OMIM:616116Mental retardation, autosomal recessive 46.27
HP:0000713HP:0000713Agitation0NEFH CL E G H47447737ORPHA:803Amyotrophic lateral sclerosisHP:0040283 - Occasional24
HP:0000713HP:0000713Agitation0NEK1 CL E G H47507744ORPHA:803Amyotrophic lateral sclerosisHP:0040283 - Occasional101
HP:0000713HP:0000713Agitation0NTNG1 CL E G H2285423319ORPHA:3095Atypical Rett syndromeHP:0040281 - Very frequent1
HP:0000713HP:0000713Agitation0OPTN CL E G H1013317142ORPHA:803Amyotrophic lateral sclerosisHP:0040283 - Occasional62
HP:0000713HP:0000713Agitation0PAK3 CL E G H50638592OMIM:300558MENTAL RETARDATION, X-LINKED 30; MRX3027
HP:0000713HP:0000713Agitation0PARK7 CL E G H1131516369ORPHA:2828Young-onset Parkinson diseaseHP:0040284 - Very rare23
HP:0000713HP:0000713Agitation0PDE11A CL E G H509408773OMIM:610475Pigmented nodular adrenocortical disease, primary, 2.13
HP:0000713HP:0000713Agitation0PFN1 CL E G H52168881ORPHA:803Amyotrophic lateral sclerosisHP:0040283 - Occasional6
HP:0000713HP:0000713Agitation0PINK1 CL E G H6501814581ORPHA:2828Young-onset Parkinson diseaseHP:0040284 - Very rare55
HP:0000713HP:0000713Agitation0PODXL CL E G H54209171ORPHA:2828Young-onset Parkinson diseaseHP:0040284 - Very rare6
HP:0000713HP:0000713Agitation0PON1 CL E G H54449204ORPHA:803Amyotrophic lateral sclerosisHP:0040283 - Occasional4
HP:0000713HP:0000713Agitation0PON2 CL E G H54459205ORPHA:803Amyotrophic lateral sclerosisHP:0040283 - Occasional2
HP:0000713HP:0000713Agitation0PON3 CL E G H54469206ORPHA:803Amyotrophic lateral sclerosisHP:0040283 - Occasional1
HP:0000713HP:0000713Agitation0PPARGC1A CL E G H108919237ORPHA:803Amyotrophic lateral sclerosisHP:0040283 - Occasional1
HP:0000713HP:0000713Agitation0PRKAR1A CL E G H55739388OMIM:610489Pigmented nodular adrenocortical disease, primary, 1.134
HP:0000713HP:0000713Agitation0PRKN CL E G H50718607ORPHA:2828Young-onset Parkinson diseaseHP:0040284 - Very rare138
HP:0000713HP:0000713Agitation0PRPH CL E G H56309461ORPHA:803Amyotrophic lateral sclerosisHP:0040283 - Occasional25
HP:0000713HP:0000713Agitation0PSEN1 CL E G H56639508ORPHA:1020Early-onset autosomal dominant Alzheimer diseaseHP:0040281 - Very frequent241
HP:0000713HP:0000713Agitation0PSEN2 CL E G H56649509ORPHA:1020Early-onset autosomal dominant Alzheimer diseaseHP:0040281 - Very frequent59
HP:0000713HP:0000713Agitation0PTS CL E G H58059689ORPHA:136-pyruvoyl-tetrahydropterin synthase deficiencyHP:0040283 - Occasional19
HP:0000713HP:0000713Agitation0SATB1 CL E G H630410541OMIM:619229KOHLSCHUTTER-TONZ SYNDROME-LIKE; KTZSL
HP:0000713HP:0000713Agitation0SLC2A3 CL E G H651511007ORPHA:399Huntington diseaseHP:0040282 - Frequent1
HP:0000713HP:0000713Agitation0SMC1A CL E G H824311111ORPHA:3095Atypical Rett syndromeHP:0040281 - Very frequent135
HP:0000713HP:0000713Agitation0SNCA CL E G H662211138ORPHA:411602Hereditary late-onset Parkinson diseaseHP:0040283 - Occasional65
HP:0000713HP:0000713Agitation0SNCA CL E G H662211138ORPHA:2828Young-onset Parkinson diseaseHP:0040284 - Very rare65
HP:0000713HP:0000713Agitation0SOD1 CL E G H664711179ORPHA:803Amyotrophic lateral sclerosisHP:0040283 - Occasional53
HP:0000713HP:0000713Agitation0SORL1 CL E G H665311185ORPHA:1020Early-onset autosomal dominant Alzheimer diseaseHP:0040281 - Very frequent3
HP:0000713HP:0000713Agitation0SPAST CL E G H668311233OMIM:182601Spastic paraplegia 4, autosomal dominant.208
HP:0000713HP:0000713Agitation0SPTBN1 CL E G H671111275OMIM:619475DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA
HP:0000713HP:0000713Agitation0SQSTM1 CL E G H887811280ORPHA:803Amyotrophic lateral sclerosisHP:0040283 - Occasional62
HP:0000713HP:0000713Agitation0SUOX CL E G H682111460OMIM:272300SULFOCYSTEINURIA.40
HP:0000713HP:0000713Agitation0SYNJ1 CL E G H886711503ORPHA:2828Young-onset Parkinson diseaseHP:0040284 - Very rare9
HP:0000713HP:0000713Agitation0TAF15 CL E G H814811547ORPHA:803Amyotrophic lateral sclerosisHP:0040283 - Occasional
HP:0000713HP:0000713Agitation0TARDBP CL E G H2343511571ORPHA:803Amyotrophic lateral sclerosisHP:0040283 - Occasional65
HP:0000713HP:0000713Agitation0TBK1 CL E G H2911011584ORPHA:803Amyotrophic lateral sclerosisHP:0040283 - Occasional20
HP:0000713HP:0000713Agitation0TMEM67 CL E G H9114728396ORPHA:84081Senior-Boichis syndrome166
HP:0000713HP:0000713Agitation0TOMM40 CL E G H1045218001ORPHA:1020Early-onset autosomal dominant Alzheimer diseaseHP:0040281 - Very frequent
HP:0000713HP:0000713Agitation0TREM2 CL E G H5420917761ORPHA:803Amyotrophic lateral sclerosisHP:0040283 - Occasional31
HP:0000713HP:0000713Agitation0TREM2 CL E G H5420917761ORPHA:1020Early-onset autosomal dominant Alzheimer diseaseHP:0040281 - Very frequent31
HP:0000713HP:0000713Agitation0TSHR CL E G H725312373ORPHA:99819Familial gestational hyperthyroidismHP:0040282 - Frequent97
HP:0000713HP:0000713Agitation0TSHR CL E G H725312373ORPHA:424Familial hyperthyroidism due to mutations in TSH receptorHP:0040282 - Frequent97
HP:0000713HP:0000713Agitation0UBQLN2 CL E G H2997812509ORPHA:803Amyotrophic lateral sclerosisHP:0040283 - Occasional20
HP:0000713HP:0000713Agitation0UCHL1 CL E G H734512513ORPHA:2828Young-onset Parkinson diseaseHP:0040284 - Very rare21
HP:0000713HP:0000713Agitation0UCP2 CL E G H735112518ORPHA:276556Hyperinsulinism due to UCP2 deficiencyHP:0040282 - Frequent15
HP:0000713HP:0000713Agitation0UNC13A CL E G H2302523150ORPHA:803Amyotrophic lateral sclerosisHP:0040283 - Occasional1
HP:0000713HP:0000713Agitation0VAPB CL E G H921712649ORPHA:803Amyotrophic lateral sclerosisHP:0040283 - Occasional116
HP:0000713HP:0000713Agitation0VCP CL E G H741512666ORPHA:803Amyotrophic lateral sclerosisHP:0040283 - Occasional63
HP:0000713HP:0000713Agitation0VPS13C CL E G H5483223594ORPHA:2828Young-onset Parkinson diseaseHP:0040284 - Very rare8
HP:0000713HP:0000713Agitation0VPS35 CL E G H5573713487ORPHA:411602Hereditary late-onset Parkinson diseaseHP:0040283 - Occasional37
HP:0000713HP:0000713Agitation0WAC CL E G H5132217327OMIM:616708Desanto-Shinawi syndrome.20


Genes (109) :ABCA7 ABCC8 ACAT1 ADA2 ADCY5 AFF2 ALAD ANG ANXA11 APP ATP6V0A1 ATXN2 BRAT1 C9ORF72 CACNA1A CCNF CDKL5 CFAP410 CHCHD10 CHMP2B COX10 CYP27A1 DAO DCDC2 DCTN1 DCX DEAF1 DNAJC13 DNAJC6 ECE1 EIF2S3 EIF4G1 EPHA4 ERBB4 FIG4 FUS GABBR2 GBA1 GIGYF2 GLE1 GLS GLT8D1 GNAS GNS GRN H4C5 HNF1A HNF4A HNRNPA1 HSD17B10 HTRA2 HTT IGF1R KCNJ11 KIF11 LRRK2 LSS MATR3 MECP2 MED13L NAGS NDST1 NEFH NEK1 NTNG1 OPTN PAK3 PARK7 PDE11A PFN1 PINK1 PODXL PON1 PON2 PON3 PPARGC1A PRKAR1A PRKN PRPH PSEN1 PSEN2 PTS SATB1 SLC2A3 SMC1A SNCA SOD1 SORL1 SPAST SPTBN1 SQSTM1 SUOX SYNJ1 TAF15 TARDBP TBK1 TMEM67 TOMM40 TREM2 TSHR UBQLN2 UCHL1 UCP2 UNC13A VAPB VCP VPS13C VPS35 WAC

Diseases (54) :ORPHA:1020 ORPHA:276575 ORPHA:134 OMIM:615688 OMIM:619651 ORPHA:100973 OMIM:309548 ORPHA:100924 ORPHA:803 OMIM:619970 OMIM:618056 OMIM:141500 ORPHA:3095 OMIM:619046 ORPHA:909 ORPHA:84081 ORPHA:2148 OMIM:617171 ORPHA:468620 ORPHA:411602 ORPHA:2828 OMIM:613870 ORPHA:85282 OMIM:617903 OMIM:618339 OMIM:219080 OMIM:252940 OMIM:607485 OMIM:619950 ORPHA:324575 ORPHA:263455 OMIM:300438 ORPHA:399 OMIM:617435 OMIM:270450 ORPHA:276580 OMIM:152950 OMIM:618840 ORPHA:778 ORPHA:369891 ORPHA:927 OMIM:616116 OMIM:300558 OMIM:610475 OMIM:610489 ORPHA:13 OMIM:619229 OMIM:182601 OMIM:619475 OMIM:272300 ORPHA:99819 ORPHA:424 ORPHA:276556 OMIM:616708
 

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