Human Phenotype Ontology 
Grandparent Node:
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Abnormality of the peripheral nervous system (HP:0410008)help
Parent Node:
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Abnormality of the autonomic nervous system (HP:0002270)help
..Starting node
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Abnormal autonomic nervous system physiology (HP:0012332)help
Term ID: 12332
Name: Abnormal autonomic nervous system physiology
Synonym: Autonomic dysfunction; Autonomic dysregulation; Dysautonomia
Definition: A functional abnormality of the autonomic nervous system.
Comments:
Reference: HP:0012332
Genes and Diseases:
 
       Child Nodes:
........expandOrthostatic hypotension (HP:0001278) help
................... HP:0004926 Orthostatic hypotension due to autonomic dysfunction
................... HP:0005307 Postural hypotension with compensatory tachycardia
........expandAutonomic dysregulation (HP:0002271) help
........expandHorner syndrome (HP:0002277) help
................... HP:0006837 Congenital Horner syndrome
........expandDysautonomia (HP:0002459) help
................... HP:0005341 Autonomic bladder dysfunction
................... HP:0008652 Autonomic erectile dysfunction
........expandOrthostatic tachycardia (HP:0012173) help
........expandAbnormal sudomotor regulation (HP:0012333) help

 Sister Nodes: 
..expandAbnormal autonomic nervous system morphology (HP:0012331) 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:0012332HP:0012332Abnormal autonomic nervous system physiology0AAAS CL E G H808613666OMIM:231550Achalasia-Addisonianism-Alacrima syndrome.57
HP:0012332HP:0012332Abnormal autonomic nervous system physiology0ACOX1 CL E G H51119OMIM:618960MITCHELL SYNDROME; MITCH120
HP:0012332HP:0012332Abnormal autonomic nervous system physiology0ADH1C CL E G H126251OMIM:168600Parkinson disease, late-onsetHP:0040283 - Occasional4
HP:0012332HP:0012332Abnormal autonomic nervous system physiology0AKAP9 CL E G H10142379ORPHA:101016Romano-Ward syndromeHP:0040283 - Occasional289
HP:0012332HP:0012332Abnormal autonomic nervous system physiology0ANK2 CL E G H287493ORPHA:101016Romano-Ward syndromeHP:0040283 - Occasional539
HP:0012332HP:0012332Abnormal autonomic nervous system physiology0ARSA CL E G H410713ORPHA:309271Metachromatic leukodystrophy, adult form253
HP:0012332HP:0012332Abnormal autonomic nervous system physiology0ASCL1 CL E G H429738ORPHA:99803Haddad syndromeHP:0040281 - Very frequent15
HP:0012332HP:0012332Abnormal autonomic nervous system physiology0ATP1A2 CL E G H477800ORPHA:2131Alternating hemiplegia of childhoodHP:0040282 - Frequent239
HP:0012332HP:0012332Abnormal autonomic nervous system physiology0ATP1A3 CL E G H478801ORPHA:2131Alternating hemiplegia of childhoodHP:0040282 - Frequent150
HP:0012332HP:0012332Abnormal autonomic nervous system physiology0ATP7A CL E G H538869OMIM:304150Occipital horn syndrome192
HP:0012332HP:0012332Abnormal autonomic nervous system physiology0ATXN2 CL E G H631110555OMIM:168600Parkinson disease, late-onsetHP:0040283 - Occasional11
HP:0012332HP:0012332Abnormal autonomic nervous system physiology0ATXN3 CL E G H42877106OMIM:109150Machado-Joseph diseaseHP:0040283 - Occasional14
HP:0012332HP:0012332Abnormal autonomic nervous system physiology0ATXN8OS CL E G H631510561OMIM:168600Parkinson disease, late-onsetHP:0040283 - Occasional1
HP:0012332HP:0012332Abnormal autonomic nervous system physiology0B2M CL E G H567914ORPHA:314652Variant ABeta2M amyloidosisHP:0040283 - Occasional8
HP:0012332HP:0012332Abnormal autonomic nervous system physiology0BRAT1 CL E G H22192721701OMIM:614498Rigidity and multifocal seizure syndrome, lethal neonatal.20
HP:0012332HP:0012332Abnormal autonomic nervous system physiology0CACNA1A CL E G H7731388ORPHA:2131Alternating hemiplegia of childhoodHP:0040282 - Frequent449
HP:0012332HP:0012332Abnormal autonomic nervous system physiology0CACNA1C CL E G H7751390ORPHA:101016Romano-Ward syndromeHP:0040283 - Occasional572
HP:0012332HP:0012332Abnormal autonomic nervous system physiology0CALM1 CL E G H8011442ORPHA:101016Romano-Ward syndromeHP:0040283 - Occasional18
HP:0012332HP:0012332Abnormal autonomic nervous system physiology0CALM2 CL E G H8051445ORPHA:101016Romano-Ward syndromeHP:0040283 - Occasional13
HP:0012332HP:0012332Abnormal autonomic nervous system physiology0CALM3 CL E G H8081449ORPHA:101016Romano-Ward syndromeHP:0040283 - Occasional16
HP:0012332HP:0012332Abnormal autonomic nervous system physiology0CAV1 CL E G H8571527OMIM:606721Lipodystrophy, familial partial, type 711
HP:0012332HP:0012332Abnormal autonomic nervous system physiology0CAV3 CL E G H8591529ORPHA:101016Romano-Ward syndromeHP:0040283 - Occasional148
HP:0012332HP:0012332Abnormal autonomic nervous system physiology0CCT5 CL E G H229481618ORPHA:139578Mutilating hereditary sensory neuropathy with spastic paraplegiaHP:0040281 - Very frequent56
HP:0012332HP:0012332Abnormal autonomic nervous system physiology0CHCHD2 CL E G H5114221645OMIM:616710Parkinson disease 22, autosomal dominant3
HP:0012332HP:0012332Abnormal autonomic nervous system physiology0CHRNA3 CL E G H11361957OMIM:191800URINARY BLADDER, ATONY OF4
HP:0012332HP:0012332Abnormal autonomic nervous system physiology0CISD2 CL E G H49385624212ORPHA:3463Wolfram syndromeHP:0040283 - Occasional3
HP:0012332HP:0012332Abnormal autonomic nervous system physiology0COL1A1 CL E G H12772197ORPHA:287Classical Ehlers-Danlos syndrome373
HP:0012332HP:0012332Abnormal autonomic nervous system physiology0COL25A1 CL E G H8457018603ORPHA:91411Congenital ptosis3
HP:0012332HP:0012332Abnormal autonomic nervous system physiology0COL5A1 CL E G H12892209ORPHA:287Classical Ehlers-Danlos syndrome660
HP:0012332HP:0012332Abnormal autonomic nervous system physiology0COL5A2 CL E G H12902210ORPHA:287Classical Ehlers-Danlos syndrome325
HP:0012332HP:0012332Abnormal autonomic nervous system physiology0COQ2 CL E G H2723525223OMIM:146500Multiple system atrophy 1, susceptibility to.54
HP:0012332HP:0012332Abnormal autonomic nervous system physiology0COQ2 CL E G H2723525223ORPHA:227510Multiple system atrophy, cerebellar typeHP:0040282 - Frequent54
HP:0012332HP:0012332Abnormal autonomic nervous system physiology0COQ2 CL E G H2723525223ORPHA:98933Multiple system atrophy, parkinsonian typeHP:0040282 - Frequent54
HP:0012332HP:0012332Abnormal autonomic nervous system physiology0CYB561 CL E G H15342571OMIM:618182Orthostatic hypotension 2
HP:0012332HP:0012332Abnormal autonomic nervous system physiology0CYP11B2 CL E G H15852592ORPHA:556030Early-onset familial hypoaldosteronism73
HP:0012332HP:0012332Abnormal autonomic nervous system physiology0CYP11B2 CL E G H15852592OMIM:610600Hypoaldosteronism, congenital, due to CMO II deficiency73
HP:0012332HP:0012332Abnormal autonomic nervous system physiology0DBH CL E G H16212689ORPHA:230Dopamine beta-hydroxylase deficiency80
HP:0012332HP:0012332Abnormal autonomic nervous system physiology0DBH CL E G H16212689OMIM:223360Dopamine beta-hydroxylase deficiency, congenital80
HP:0012332HP:0012332Abnormal autonomic nervous system physiology0DEPDC5 CL E G H968118423ORPHA:101046Autosomal dominant epilepsy with auditory featuresHP:0040283 - Occasional172
HP:0012332HP:0012332Abnormal autonomic nervous system physiology0DNAJC13 CL E G H2331730343ORPHA:411602Hereditary late-onset Parkinson disease2
HP:0012332HP:0012332Abnormal autonomic nervous system physiology0DNAJC6 CL E G H982915469ORPHA:2828Young-onset Parkinson diseaseHP:0040283 - Occasional6
HP:0012332HP:0012332Abnormal autonomic nervous system physiology0ECE1 CL E G H18893146OMIM:613870Hirschsprung disease, cardiac defects, and autonomic dysfunction.13
HP:0012332HP:0012332Abnormal autonomic nervous system physiology0EIF4G1 CL E G H19813296ORPHA:411602Hereditary late-onset Parkinson disease2
HP:0012332HP:0012332Abnormal autonomic nervous system physiology0ELP1 CL E G H85185959ORPHA:1764Familial dysautonomia133
HP:0012332HP:0012332Abnormal autonomic nervous system physiology0ELP1 CL E G H85185959OMIM:223900Neuropathy, hereditary sensory and autonomic, type III133
HP:0012332HP:0012332Abnormal autonomic nervous system physiology0ERBB3 CL E G H20653431OMIM:243180Visceral neuropathy, familial, autosomal recessive12
HP:0012332HP:0012332Abnormal autonomic nervous system physiology0FBXO7 CL E G H2579313586ORPHA:171695Parkinsonian-pyramidal syndromeHP:0040282 - Frequent36
HP:0012332HP:0012332Abnormal autonomic nervous system physiology0FMR1 CL E G H23323775ORPHA:93256Fragile X-associated tremor/ataxia syndromeHP:0040282 - Frequent30
HP:0012332HP:0012332Abnormal autonomic nervous system physiology0GABBR2 CL E G H95684507OMIM:617903Neurodevelopmental disorder with poor language and loss of hand skills.5
HP:0012332HP:0012332Abnormal autonomic nervous system physiology0GBA1 CL E G H26294177ORPHA:411602Hereditary late-onset Parkinson disease
HP:0012332HP:0012332Abnormal autonomic nervous system physiology0GBA1 CL E G H26294177OMIM:168600Parkinson disease, late-onsetHP:0040283 - Occasional
HP:0012332HP:0012332Abnormal autonomic nervous system physiology0GBE1 CL E G H26324180OMIM:263570Polyglucosan body neuropathy, adult form86
HP:0012332HP:0012332Abnormal autonomic nervous system physiology0GFAP CL E G H26704235ORPHA:363722Alexander disease type II188
HP:0012332HP:0012332Abnormal autonomic nervous system physiology0GIGYF2 CL E G H2605811960ORPHA:411602Hereditary late-onset Parkinson disease8
HP:0012332HP:0012332Abnormal autonomic nervous system physiology0GLA CL E G H27174296OMIM:301500Fabry disease.291
HP:0012332HP:0012332Abnormal autonomic nervous system physiology0GLUD2 CL E G H27474336OMIM:168600Parkinson disease, late-onsetHP:0040283 - Occasional1
HP:0012332HP:0012332Abnormal autonomic nervous system physiology0GMPPA CL E G H2992622923OMIM:615510Alacrima, achalasia, and mental retardation syndrome.24
HP:0012332HP:0012332Abnormal autonomic nervous system physiology0GNB2 CL E G H27834398OMIM:619503NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0012332HP:0012332Abnormal autonomic nervous system physiology0GSN CL E G H29344620ORPHA:85448AGel amyloidosis53
HP:0012332HP:0012332Abnormal autonomic nervous system physiology0HEXB CL E G H30744879OMIM:268800Sandhoff disease80
HP:0012332HP:0012332Abnormal autonomic nervous system physiology0HTRA2 CL E G H2742914348ORPHA:2828Young-onset Parkinson diseaseHP:0040283 - Occasional39
HP:0012332HP:0012332Abnormal autonomic nervous system physiology0IL12A CL E G H35925969ORPHA:186Primary biliary cholangitis
HP:0012332HP:0012332Abnormal autonomic nervous system physiology0IL12RB1 CL E G H35945971ORPHA:186Primary biliary cholangitis46
HP:0012332HP:0012332Abnormal autonomic nervous system physiology0IRF5 CL E G H36636120ORPHA:186Primary biliary cholangitis4
HP:0012332HP:0012332Abnormal autonomic nervous system physiology0KCNE1 CL E G H37536240ORPHA:101016Romano-Ward syndromeHP:0040283 - Occasional148
HP:0012332HP:0012332Abnormal autonomic nervous system physiology0KCNE2 CL E G H99926242ORPHA:101016Romano-Ward syndromeHP:0040283 - Occasional43
HP:0012332HP:0012332Abnormal autonomic nervous system physiology0KCNH2 CL E G H37576251ORPHA:101016Romano-Ward syndromeHP:0040283 - Occasional901
HP:0012332HP:0012332Abnormal autonomic nervous system physiology0KCNJ5 CL E G H37626266ORPHA:101016Romano-Ward syndromeHP:0040283 - Occasional128
HP:0012332HP:0012332Abnormal autonomic nervous system physiology0KCNQ1 CL E G H37846294ORPHA:101016Romano-Ward syndromeHP:0040283 - Occasional730
HP:0012332HP:0012332Abnormal autonomic nervous system physiology0KIF1B CL E G H2309516636OMIM:256700Neuroblastoma, susceptibility to202
HP:0012332HP:0012332Abnormal autonomic nervous system physiology0LEP CL E G H39526553ORPHA:66628Obesity due to congenital leptin deficiency47
HP:0012332HP:0012332Abnormal autonomic nervous system physiology0LEPR CL E G H39536554ORPHA:179494Obesity due to leptin receptor gene deficiency46
HP:0012332HP:0012332Abnormal autonomic nervous system physiology0LGI1 CL E G H92116572ORPHA:101046Autosomal dominant epilepsy with auditory featuresHP:0040283 - Occasional75
HP:0012332HP:0012332Abnormal autonomic nervous system physiology0LIFR CL E G H39776597ORPHA:3206Stüve-Wiedemann syndromeHP:0040281 - Very frequent144
HP:0012332HP:0012332Abnormal autonomic nervous system physiology0LIFR CL E G H39776597OMIM:601559Stuve-Wiedemann syndrome.144
HP:0012332HP:0012332Abnormal autonomic nervous system physiology0LMNB1 CL E G H40016637ORPHA:99027Adult-onset autosomal dominant leukodystrophyHP:0040281 - Very frequent44
HP:0012332HP:0012332Abnormal autonomic nervous system physiology0LMNB1 CL E G H40016637OMIM:169500Leukodystrophy, adult-onset, autosomal dominant44
HP:0012332HP:0012332Abnormal autonomic nervous system physiology0LRRK2 CL E G H12089218618ORPHA:411602Hereditary late-onset Parkinson disease221
HP:0012332HP:0012332Abnormal autonomic nervous system physiology0LRRK2 CL E G H12089218618ORPHA:2828Young-onset Parkinson diseaseHP:0040283 - Occasional221
HP:0012332HP:0012332Abnormal autonomic nervous system physiology0MAPT CL E G H41376893OMIM:168600Parkinson disease, late-onsetHP:0040283 - Occasional140
HP:0012332HP:0012332Abnormal autonomic nervous system physiology0MECP2 CL E G H42046990ORPHA:778Rett syndromeHP:0040283 - Occasional950
HP:0012332HP:0012332Abnormal autonomic nervous system physiology0MMEL1 CL E G H7925814668ORPHA:186Primary biliary cholangitis
HP:0012332HP:0012332Abnormal autonomic nervous system physiology0NOS1AP CL E G H972216859ORPHA:101016Romano-Ward syndromeHP:0040283 - Occasional4
HP:0012332HP:0012332Abnormal autonomic nervous system physiology0NR4A2 CL E G H49297981OMIM:168600Parkinson disease, late-onsetHP:0040283 - Occasional27
HP:0012332HP:0012332Abnormal autonomic nervous system physiology0NTRK1 CL E G H49148031ORPHA:642Hereditary sensory and autonomic neuropathy type 497
HP:0012332HP:0012332Abnormal autonomic nervous system physiology0NTRK1 CL E G H49148031OMIM:256800Insensitivity to pain, congenital, with anhidrosis.97
HP:0012332HP:0012332Abnormal autonomic nervous system physiology0PARK7 CL E G H1131516369ORPHA:2828Young-onset Parkinson diseaseHP:0040283 - Occasional23
HP:0012332HP:0012332Abnormal autonomic nervous system physiology0PHOX2B CL E G H89299143OMIM:209880Central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease86
HP:0012332HP:0012332Abnormal autonomic nervous system physiology0PHOX2B CL E G H89299143ORPHA:99803Haddad syndromeHP:0040281 - Very frequent86
HP:0012332HP:0012332Abnormal autonomic nervous system physiology0PINK1 CL E G H6501814581ORPHA:2828Young-onset Parkinson diseaseHP:0040283 - Occasional55
HP:0012332HP:0012332Abnormal autonomic nervous system physiology0PLA2G6 CL E G H83989039ORPHA:35069Infantile neuroaxonal dystrophyHP:0040283 - Occasional133
HP:0012332HP:0012332Abnormal autonomic nervous system physiology0PODXL CL E G H54209171ORPHA:2828Young-onset Parkinson diseaseHP:0040283 - Occasional6
HP:0012332HP:0012332Abnormal autonomic nervous system physiology0POLR3A CL E G H1112830074ORPHA:447896Tremor-ataxia-central hypomyelination syndrome138
HP:0012332HP:0012332Abnormal autonomic nervous system physiology0POU2AF1 CL E G H54509211ORPHA:186Primary biliary cholangitis
HP:0012332HP:0012332Abnormal autonomic nervous system physiology0PPOX CL E G H54989280ORPHA:79473Porphyria variegataHP:0040283 - Occasional41
HP:0012332HP:0012332Abnormal autonomic nervous system physiology0PRKN CL E G H50718607ORPHA:2828Young-onset Parkinson diseaseHP:0040283 - Occasional138
HP:0012332HP:0012332Abnormal autonomic nervous system physiology0PRNP CL E G H56219449OMIM:600072Fatal familial insomnia.69
HP:0012332HP:0012332Abnormal autonomic nervous system physiology0PRNP CL E G H56219449ORPHA:282166Inherited Creutzfeldt-Jakob diseaseHP:0040282 - Frequent69
HP:0012332HP:0012332Abnormal autonomic nervous system physiology0PSAP CL E G H56609498ORPHA:309271Metachromatic leukodystrophy, adult form81
HP:0012332HP:0012332Abnormal autonomic nervous system physiology0RELN CL E G H56499957ORPHA:101046Autosomal dominant epilepsy with auditory featuresHP:0040283 - Occasional334
HP:0012332HP:0012332Abnormal autonomic nervous system physiology0RET CL E G H59799967ORPHA:99803Haddad syndromeHP:0040281 - Very frequent572
HP:0012332HP:0012332Abnormal autonomic nervous system physiology0RFC1 CL E G H59819969OMIM:614575Cerebellar ataxia, neuropathy, and vestibular areflexia syndrome
HP:0012332HP:0012332Abnormal autonomic nervous system physiology0SCN10A CL E G H633610582ORPHA:101016Romano-Ward syndromeHP:0040283 - Occasional146
HP:0012332HP:0012332Abnormal autonomic nervous system physiology0SCN11A CL E G H1128010583OMIM:615552Episodic pain syndrome, familial, 3HP:0040282 - Frequent19
HP:0012332HP:0012332Abnormal autonomic nervous system physiology0SCN11A CL E G H1128010583OMIM:615548Neuropathy, hereditary sensory and autonomic, type VII.19
HP:0012332HP:0012332Abnormal autonomic nervous system physiology0SCN3A CL E G H632810590OMIM:617935Epilepsy, familial focal, with variable foci 4.70
HP:0012332HP:0012332Abnormal autonomic nervous system physiology0SCN4B CL E G H633010592ORPHA:101016Romano-Ward syndromeHP:0040283 - Occasional110
HP:0012332HP:0012332Abnormal autonomic nervous system physiology0SCN5A CL E G H633110593ORPHA:101016Romano-Ward syndromeHP:0040283 - Occasional1134
HP:0012332HP:0012332Abnormal autonomic nervous system physiology0SCN9A CL E G H633510597OMIM:133020Erythermalgia, primaryHP:0040283 - Occasional318
HP:0012332HP:0012332Abnormal autonomic nervous system physiology0SIM1 CL E G H649210882ORPHA:369873Obesity due to SIM1 deficiencyHP:0040281 - Very frequent40
HP:0012332HP:0012332Abnormal autonomic nervous system physiology0SLC18A2 CL E G H657110935OMIM:618049Parkinsonism-Dystonia, infantile, 2.2
HP:0012332HP:0012332Abnormal autonomic nervous system physiology0SLC1A3 CL E G H650710941ORPHA:2131Alternating hemiplegia of childhoodHP:0040282 - Frequent63
HP:0012332HP:0012332Abnormal autonomic nervous system physiology0SLC6A2 CL E G H653011048OMIM:604715ORTHOSTATIC INTOLERANCE60
HP:0012332HP:0012332Abnormal autonomic nervous system physiology0SNCA CL E G H662211138ORPHA:411602Hereditary late-onset Parkinson disease65
HP:0012332HP:0012332Abnormal autonomic nervous system physiology0SNCA CL E G H662211138OMIM:605543Parkinson disease 4.65
HP:0012332HP:0012332Abnormal autonomic nervous system physiology0SNCA CL E G H662211138ORPHA:171695Parkinsonian-pyramidal syndromeHP:0040282 - Frequent65
HP:0012332HP:0012332Abnormal autonomic nervous system physiology0SNCA CL E G H662211138ORPHA:2828Young-onset Parkinson diseaseHP:0040283 - Occasional65
HP:0012332HP:0012332Abnormal autonomic nervous system physiology0SNCAIP CL E G H962711139OMIM:168600Parkinson disease, late-onsetHP:0040283 - Occasional35
HP:0012332HP:0012332Abnormal autonomic nervous system physiology0SNTA1 CL E G H664011167ORPHA:101016Romano-Ward syndromeHP:0040283 - Occasional118
HP:0012332HP:0012332Abnormal autonomic nervous system physiology0SOX10 CL E G H666311190OMIM:609136Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease.61
HP:0012332HP:0012332Abnormal autonomic nervous system physiology0SPG11 CL E G H8020811226ORPHA:2822Autosomal recessive spastic paraplegia type 11287
HP:0012332HP:0012332Abnormal autonomic nervous system physiology0SPIB CL E G H668911242ORPHA:186Primary biliary cholangitis
HP:0012332HP:0012332Abnormal autonomic nervous system physiology0SYNJ1 CL E G H886711503ORPHA:2828Young-onset Parkinson diseaseHP:0040283 - Occasional9
HP:0012332HP:0012332Abnormal autonomic nervous system physiology0TBP CL E G H690811588OMIM:168600Parkinson disease, late-onsetHP:0040283 - Occasional7
HP:0012332HP:0012332Abnormal autonomic nervous system physiology0TBX5 CL E G H691011604ORPHA:101016Romano-Ward syndromeHP:0040283 - Occasional123
HP:0012332HP:0012332Abnormal autonomic nervous system physiology0TNFSF15 CL E G H996611931ORPHA:186Primary biliary cholangitis
HP:0012332HP:0012332Abnormal autonomic nervous system physiology0TNPO3 CL E G H2353417103ORPHA:186Primary biliary cholangitis71
HP:0012332HP:0012332Abnormal autonomic nervous system physiology0TRDN CL E G H1034512261ORPHA:101016Romano-Ward syndromeHP:0040283 - Occasional145
HP:0012332HP:0012332Abnormal autonomic nervous system physiology0TRNT CL E G H45767499OMIM:168600Parkinson disease, late-onsetHP:0040283 - Occasional
HP:0012332HP:0012332Abnormal autonomic nervous system physiology0TSPYL1 CL E G H725912382ORPHA:168593Sudden infant death-dysgenesis of the testes syndromeHP:0040281 - Very frequent1
HP:0012332HP:0012332Abnormal autonomic nervous system physiology0TTR CL E G H727612405OMIM:105210Amyloidosis, hereditary, transthyretin-related.107
HP:0012332HP:0012332Abnormal autonomic nervous system physiology0TTR CL E G H727612405ORPHA:85451ATTRV122I amyloidosis107
HP:0012332HP:0012332Abnormal autonomic nervous system physiology0TTR CL E G H727612405ORPHA:85447ATTRV30M amyloidosisHP:0040282 - Frequent107
HP:0012332HP:0012332Abnormal autonomic nervous system physiology0TUBB3 CL E G H1038120772ORPHA:300570Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutationHP:0040283 - Occasional64
HP:0012332HP:0012332Abnormal autonomic nervous system physiology0TXN2 CL E G H2582817772ORPHA:478029Combined oxidative phosphorylation defect type 29HP:0040281 - Very frequent1
HP:0012332HP:0012332Abnormal autonomic nervous system physiology0UCHL1 CL E G H734512513ORPHA:2828Young-onset Parkinson diseaseHP:0040283 - Occasional21
HP:0012332HP:0012332Abnormal autonomic nervous system physiology0VPS11 CL E G H5582314583OMIM:616683Leukodystrophy, hypomyelinating, 12.1
HP:0012332HP:0012332Abnormal autonomic nervous system physiology0VPS11 CL E G H5582314583ORPHA:466934VPS11-related autosomal recessive hypomyelinating leukodystrophyHP:0040282 - Frequent1
HP:0012332HP:0012332Abnormal autonomic nervous system physiology0VPS13A CL E G H232301908ORPHA:2388ChoreoacanthocytosisHP:0040284 - Very rare130
HP:0012332HP:0012332Abnormal autonomic nervous system physiology0VPS13C CL E G H5483223594OMIM:616840Parkinson disease 23, autosomal recessive early-onset8
HP:0012332HP:0012332Abnormal autonomic nervous system physiology0VPS13C CL E G H5483223594ORPHA:2828Young-onset Parkinson diseaseHP:0040283 - Occasional8
HP:0012332HP:0012332Abnormal autonomic nervous system physiology0VPS35 CL E G H5573713487ORPHA:411602Hereditary late-onset Parkinson disease37
HP:0012332HP:0012332Abnormal autonomic nervous system physiology0WDR45 CL E G H1115228912ORPHA:329284Beta-propeller protein-associated neurodegenerationHP:0040282 - Frequent51
HP:0012332HP:0012332Abnormal autonomic nervous system physiology0WDR45 CL E G H1115228912OMIM:300894Neurodegeneration with brain iron accumulation 5.51
HP:0012332HP:0012332Abnormal autonomic nervous system physiology0WFS1 CL E G H746612762ORPHA:3463Wolfram syndromeHP:0040283 - Occasional389
HP:0012332HP:0012332Abnormal autonomic nervous system physiology0ZFHX4 CL E G H7977630939ORPHA:91411Congenital ptosis
HP:0012332HP:0012333Abnormal sudomotor regulation1 CL E G H
HP:0012332HP:0001278Orthostatic hypotension1AAAS CL E G H808613666OMIM:231550Achalasia-Addisonianism-Alacrima syndrome.57
HP:0012332HP:0001278Orthostatic hypotension1ARSA CL E G H410713ORPHA:309271Metachromatic leukodystrophy, adult form253
HP:0012332HP:0001278Orthostatic hypotension1ATP7A CL E G H538869OMIM:304150Occipital horn syndrome.192
HP:0012332HP:0001278Orthostatic hypotension1CAV1 CL E G H8571527OMIM:606721Lipodystrophy, familial partial, type 7.11
HP:0012332HP:0001278Orthostatic hypotension1CHCHD2 CL E G H5114221645OMIM:616710Parkinson disease 22, autosomal dominant.3
HP:0012332HP:0001278Orthostatic hypotension1CHRNA3 CL E G H11361957OMIM:191800URINARY BLADDER, ATONY OF4
HP:0012332HP:0001278Orthostatic hypotension1COL1A1 CL E G H12772197ORPHA:287Classical Ehlers-Danlos syndromeHP:0040284 - Very rare373
HP:0012332HP:0002277Horner syndrome1COL25A1 CL E G H8457018603ORPHA:91411Congenital ptosis3
HP:0012332HP:0001278Orthostatic hypotension1COL5A1 CL E G H12892209ORPHA:287Classical Ehlers-Danlos syndromeHP:0040284 - Very rare660
HP:0012332HP:0001278Orthostatic hypotension1COL5A2 CL E G H12902210ORPHA:287Classical Ehlers-Danlos syndromeHP:0040284 - Very rare325
HP:0012332HP:0001278Orthostatic hypotension1COQ2 CL E G H2723525223OMIM:146500Multiple system atrophy 1, susceptibility to.54
HP:0012332HP:0001278Orthostatic hypotension1COQ2 CL E G H2723525223ORPHA:227510Multiple system atrophy, cerebellar type54
HP:0012332HP:0008652Autonomic erectile dysfunction1COQ2 CL E G H2723525223ORPHA:227510Multiple system atrophy, cerebellar typeHP:0040282 - Frequent54
HP:0012332HP:0005341Autonomic bladder dysfunction1COQ2 CL E G H2723525223ORPHA:227510Multiple system atrophy, cerebellar typeHP:0040282 - Frequent54
HP:0012332HP:0008652Autonomic erectile dysfunction1COQ2 CL E G H2723525223ORPHA:98933Multiple system atrophy, parkinsonian typeHP:0040282 - Frequent54
HP:0012332HP:0005341Autonomic bladder dysfunction1COQ2 CL E G H2723525223ORPHA:98933Multiple system atrophy, parkinsonian typeHP:0040282 - Frequent54
HP:0012332HP:0001278Orthostatic hypotension1COQ2 CL E G H2723525223ORPHA:98933Multiple system atrophy, parkinsonian type54
HP:0012332HP:0001278Orthostatic hypotension1CYB561 CL E G H15342571OMIM:618182Orthostatic hypotension 2.
HP:0012332HP:0001278Orthostatic hypotension1CYP11B2 CL E G H15852592ORPHA:556030Early-onset familial hypoaldosteronismHP:0040282 - Frequent73
HP:0012332HP:0001278Orthostatic hypotension1CYP11B2 CL E G H15852592OMIM:610600Hypoaldosteronism, congenital, due to CMO II deficiency.73
HP:0012332HP:0001278Orthostatic hypotension1DBH CL E G H16212689ORPHA:230Dopamine beta-hydroxylase deficiencyHP:0040281 - Very frequent80
HP:0012332HP:0001278Orthostatic hypotension1DBH CL E G H16212689OMIM:223360Dopamine beta-hydroxylase deficiency, congenital.80
HP:0012332HP:0001278Orthostatic hypotension1DNAJC13 CL E G H2331730343ORPHA:411602Hereditary late-onset Parkinson disease2
HP:0012332HP:0001278Orthostatic hypotension1EIF4G1 CL E G H19813296ORPHA:411602Hereditary late-onset Parkinson disease2
HP:0012332HP:0001278Orthostatic hypotension1ELP1 CL E G H85185959ORPHA:1764Familial dysautonomiaHP:0040281 - Very frequent133
HP:0012332HP:0001278Orthostatic hypotension1ELP1 CL E G H85185959OMIM:223900Neuropathy, hereditary sensory and autonomic, type III.133
HP:0012332HP:0001278Orthostatic hypotension1GBA1 CL E G H26294177ORPHA:411602Hereditary late-onset Parkinson disease
HP:0012332HP:0001278Orthostatic hypotension1GBE1 CL E G H26324180OMIM:263570Polyglucosan body neuropathy, adult formHP:0040283 - Occasional86
HP:0012332HP:0001278Orthostatic hypotension1GIGYF2 CL E G H2605811960ORPHA:411602Hereditary late-onset Parkinson disease8
HP:0012332HP:0001278Orthostatic hypotension1GMPPA CL E G H2992622923OMIM:615510Alacrima, achalasia, and mental retardation syndromeHP:0040283 - Occasional24
HP:0012332HP:0002277Horner syndrome1GNB2 CL E G H27834398OMIM:619503NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0012332HP:0001278Orthostatic hypotension1GSN CL E G H29344620ORPHA:85448AGel amyloidosis53
HP:0012332HP:0001278Orthostatic hypotension1HEXB CL E G H30744879OMIM:268800Sandhoff disease.80
HP:0012332HP:0001278Orthostatic hypotension1IL12A CL E G H35925969ORPHA:186Primary biliary cholangitisHP:0040282 - Frequent
HP:0012332HP:0001278Orthostatic hypotension1IL12RB1 CL E G H35945971ORPHA:186Primary biliary cholangitisHP:0040282 - Frequent46
HP:0012332HP:0001278Orthostatic hypotension1IRF5 CL E G H36636120ORPHA:186Primary biliary cholangitisHP:0040282 - Frequent4
HP:0012332HP:0002277Horner syndrome1KIF1B CL E G H2309516636OMIM:256700Neuroblastoma, susceptibility to.202
HP:0012332HP:0001278Orthostatic hypotension1LEP CL E G H39526553ORPHA:66628Obesity due to congenital leptin deficiency47
HP:0012332HP:0001278Orthostatic hypotension1LEPR CL E G H39536554ORPHA:179494Obesity due to leptin receptor gene deficiency46
HP:0012332HP:0001278Orthostatic hypotension1LMNB1 CL E G H40016637ORPHA:99027Adult-onset autosomal dominant leukodystrophyHP:0040283 - Occasional44
HP:0012332HP:0005341Autonomic bladder dysfunction1LMNB1 CL E G H40016637ORPHA:99027Adult-onset autosomal dominant leukodystrophyHP:0040282 - Frequent44
HP:0012332HP:0005341Autonomic bladder dysfunction1LMNB1 CL E G H40016637OMIM:169500Leukodystrophy, adult-onset, autosomal dominant44
HP:0012332HP:0001278Orthostatic hypotension1LMNB1 CL E G H40016637OMIM:169500Leukodystrophy, adult-onset, autosomal dominant44
HP:0012332HP:0008652Autonomic erectile dysfunction1LMNB1 CL E G H40016637OMIM:169500Leukodystrophy, adult-onset, autosomal dominant44
HP:0012332HP:0001278Orthostatic hypotension1LRRK2 CL E G H12089218618ORPHA:411602Hereditary late-onset Parkinson disease221
HP:0012332HP:0001278Orthostatic hypotension1MMEL1 CL E G H7925814668ORPHA:186Primary biliary cholangitisHP:0040282 - Frequent
HP:0012332HP:0001278Orthostatic hypotension1NTRK1 CL E G H49148031ORPHA:642Hereditary sensory and autonomic neuropathy type 497
HP:0012332HP:0001278Orthostatic hypotension1NTRK1 CL E G H49148031OMIM:256800Insensitivity to pain, congenital, with anhidrosis97
HP:0012332HP:0005341Autonomic bladder dysfunction1POLR3A CL E G H1112830074ORPHA:447896Tremor-ataxia-central hypomyelination syndromeHP:0040282 - Frequent138
HP:0012332HP:0001278Orthostatic hypotension1POU2AF1 CL E G H54509211ORPHA:186Primary biliary cholangitisHP:0040282 - Frequent
HP:0012332HP:0001278Orthostatic hypotension1PSAP CL E G H56609498ORPHA:309271Metachromatic leukodystrophy, adult form81
HP:0012332HP:0001278Orthostatic hypotension1SIM1 CL E G H649210882ORPHA:369873Obesity due to SIM1 deficiency40
HP:0012332HP:0012173Orthostatic tachycardia1SLC6A2 CL E G H653011048OMIM:604715ORTHOSTATIC INTOLERANCE60
HP:0012332HP:0001278Orthostatic hypotension1SNCA CL E G H662211138ORPHA:411602Hereditary late-onset Parkinson disease65
HP:0012332HP:0001278Orthostatic hypotension1SNCA CL E G H662211138OMIM:605543Parkinson disease 4.65
HP:0012332HP:0001278Orthostatic hypotension1SPG11 CL E G H8020811226ORPHA:2822Autosomal recessive spastic paraplegia type 11HP:0040283 - Occasional287
HP:0012332HP:0001278Orthostatic hypotension1SPIB CL E G H668911242ORPHA:186Primary biliary cholangitisHP:0040282 - Frequent
HP:0012332HP:0001278Orthostatic hypotension1TNFSF15 CL E G H996611931ORPHA:186Primary biliary cholangitisHP:0040282 - Frequent
HP:0012332HP:0001278Orthostatic hypotension1TNPO3 CL E G H2353417103ORPHA:186Primary biliary cholangitisHP:0040282 - Frequent71
HP:0012332HP:0001278Orthostatic hypotension1TTR CL E G H727612405OMIM:105210Amyloidosis, hereditary, transthyretin-related107
HP:0012332HP:0001278Orthostatic hypotension1VPS35 CL E G H5573713487ORPHA:411602Hereditary late-onset Parkinson disease37
HP:0012332HP:0002277Horner syndrome1ZFHX4 CL E G H7977630939ORPHA:91411Congenital ptosis
HP:0012332HP:0004926Orthostatic hypotension due to autonomic dysfunction2ARSA CL E G H410713ORPHA:309271Metachromatic leukodystrophy, adult formHP:0040284 - Very rare253
HP:0012332HP:0006837Congenital Horner syndrome2COL25A1 CL E G H8457018603ORPHA:91411Congenital ptosis3
HP:0012332HP:0004926Orthostatic hypotension due to autonomic dysfunction2COQ2 CL E G H2723525223ORPHA:227510Multiple system atrophy, cerebellar typeHP:0040282 - Frequent54
HP:0012332HP:0004926Orthostatic hypotension due to autonomic dysfunction2COQ2 CL E G H2723525223ORPHA:98933Multiple system atrophy, parkinsonian typeHP:0040282 - Frequent54
HP:0012332HP:0004926Orthostatic hypotension due to autonomic dysfunction2DNAJC13 CL E G H2331730343ORPHA:411602Hereditary late-onset Parkinson diseaseHP:0040283 - Occasional2
HP:0012332HP:0004926Orthostatic hypotension due to autonomic dysfunction2EIF4G1 CL E G H19813296ORPHA:411602Hereditary late-onset Parkinson diseaseHP:0040283 - Occasional2
HP:0012332HP:0004926Orthostatic hypotension due to autonomic dysfunction2GBA1 CL E G H26294177ORPHA:411602Hereditary late-onset Parkinson diseaseHP:0040283 - Occasional
HP:0012332HP:0004926Orthostatic hypotension due to autonomic dysfunction2GIGYF2 CL E G H2605811960ORPHA:411602Hereditary late-onset Parkinson diseaseHP:0040283 - Occasional8
HP:0012332HP:0006837Congenital Horner syndrome2GNB2 CL E G H27834398OMIM:619503NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0012332HP:0004926Orthostatic hypotension due to autonomic dysfunction2GSN CL E G H29344620ORPHA:85448AGel amyloidosisHP:0040283 - Occasional53
HP:0012332HP:0004926Orthostatic hypotension due to autonomic dysfunction2LEP CL E G H39526553ORPHA:66628Obesity due to congenital leptin deficiencyHP:0040282 - Frequent47
HP:0012332HP:0004926Orthostatic hypotension due to autonomic dysfunction2LEPR CL E G H39536554ORPHA:179494Obesity due to leptin receptor gene deficiencyHP:0040282 - Frequent46
HP:0012332HP:0004926Orthostatic hypotension due to autonomic dysfunction2LMNB1 CL E G H40016637OMIM:169500Leukodystrophy, adult-onset, autosomal dominant44
HP:0012332HP:0004926Orthostatic hypotension due to autonomic dysfunction2LRRK2 CL E G H12089218618ORPHA:411602Hereditary late-onset Parkinson diseaseHP:0040283 - Occasional221
HP:0012332HP:0004926Orthostatic hypotension due to autonomic dysfunction2NTRK1 CL E G H49148031ORPHA:642Hereditary sensory and autonomic neuropathy type 4HP:0040283 - Occasional97
HP:0012332HP:0005307Postural hypotension with compensatory tachycardia2NTRK1 CL E G H49148031OMIM:256800Insensitivity to pain, congenital, with anhidrosis.97
HP:0012332HP:0004926Orthostatic hypotension due to autonomic dysfunction2PSAP CL E G H56609498ORPHA:309271Metachromatic leukodystrophy, adult formHP:0040284 - Very rare81
HP:0012332HP:0005307Postural hypotension with compensatory tachycardia2SIM1 CL E G H649210882ORPHA:369873Obesity due to SIM1 deficiencyHP:0040281 - Very frequent40
HP:0012332HP:0004926Orthostatic hypotension due to autonomic dysfunction2SNCA CL E G H662211138ORPHA:411602Hereditary late-onset Parkinson diseaseHP:0040283 - Occasional65
HP:0012332HP:0004926Orthostatic hypotension due to autonomic dysfunction2TTR CL E G H727612405OMIM:105210Amyloidosis, hereditary, transthyretin-related.107
HP:0012332HP:0004926Orthostatic hypotension due to autonomic dysfunction2VPS35 CL E G H5573713487ORPHA:411602Hereditary late-onset Parkinson diseaseHP:0040283 - Occasional37
HP:0012332HP:0006837Congenital Horner syndrome2ZFHX4 CL E G H7977630939ORPHA:91411Congenital ptosis


Genes (125) :AAAS ACOX1 ADH1C AKAP9 ANK2 ARSA ASCL1 ATP1A2 ATP1A3 ATP7A ATXN2 ATXN3 ATXN8OS B2M BRAT1 CACNA1A CACNA1C CALM1 CALM2 CALM3 CAV1 CAV3 CCT5 CHCHD2 CHRNA3 CISD2 COL1A1 COL25A1 COL5A1 COL5A2 COQ2 CYB561 CYP11B2 DBH DEPDC5 DNAJC13 DNAJC6 ECE1 EIF4G1 ELP1 ERBB3 FBXO7 FMR1 GABBR2 GBA1 GBE1 GFAP GIGYF2 GLA GLUD2 GMPPA GNB2 GSN HEXB HTRA2 IL12A IL12RB1 IRF5 KCNE1 KCNE2 KCNH2 KCNJ5 KCNQ1 KIF1B LEP LEPR LGI1 LIFR LMNB1 LRRK2 MAPT MECP2 MMEL1 NOS1AP NR4A2 NTRK1 PARK7 PHOX2B PINK1 PLA2G6 PODXL POLR3A POU2AF1 PPOX PRKN PRNP PSAP RELN RET RFC1 SCN10A SCN11A SCN3A SCN4B SCN5A SCN9A SIM1 SLC18A2 SLC1A3 SLC6A2 SNCA SNCAIP SNTA1 SOX10 SPG11 SPIB SYNJ1 TBP TBX5 TNFSF15 TNPO3 TRDN TRNT TSPYL1 TTR TUBB3 TXN2 UCHL1 VPS11 VPS13A VPS13C VPS35 WDR45 WFS1 ZFHX4

Diseases (83) :OMIM:231550 OMIM:618960 OMIM:168600 ORPHA:101016 ORPHA:309271 ORPHA:99803 ORPHA:2131 OMIM:304150 OMIM:109150 ORPHA:314652 OMIM:614498 OMIM:606721 ORPHA:139578 OMIM:616710 OMIM:191800 ORPHA:3463 ORPHA:287 ORPHA:91411 OMIM:146500 ORPHA:227510 ORPHA:98933 OMIM:618182 ORPHA:556030 OMIM:610600 ORPHA:230 OMIM:223360 ORPHA:101046 ORPHA:411602 ORPHA:2828 OMIM:613870 ORPHA:1764 OMIM:223900 OMIM:243180 ORPHA:171695 ORPHA:93256 OMIM:617903 OMIM:263570 ORPHA:363722 OMIM:301500 OMIM:615510 OMIM:619503 ORPHA:85448 OMIM:268800 ORPHA:186 OMIM:256700 ORPHA:66628 ORPHA:179494 ORPHA:3206 OMIM:601559 ORPHA:99027 OMIM:169500 ORPHA:778 ORPHA:642 OMIM:256800 OMIM:209880 ORPHA:35069 ORPHA:447896 ORPHA:79473 OMIM:600072 ORPHA:282166 OMIM:614575 OMIM:615552 OMIM:615548 OMIM:617935 OMIM:133020 ORPHA:369873 OMIM:618049 OMIM:604715 OMIM:605543 OMIM:609136 ORPHA:2822 ORPHA:168593 OMIM:105210 ORPHA:85451 ORPHA:85447 ORPHA:300570 ORPHA:478029 OMIM:616683 ORPHA:466934 ORPHA:2388 OMIM:616840 ORPHA:329284 OMIM:300894
 

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