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 entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
HP:0012332HP:0012332Abnormal autonomic nervous system physiology0AAAS CL E G H8086231550Glucocorticoid deficiency with achalasia231550C0271742OMIM118713666605378
HP:0012332HP:0012332Abnormal autonomic nervous system physiology0ASCL1 CL E G H42999803Haddad syndromeC1859587ORPHA132738100790
HP:0012332HP:0012332Abnormal autonomic nervous system physiology0BRAT1 CL E G H221927614498Rigidity and multifocal seizure syndrome, lethal neonatal614498C3281029OMIM196021701614506
HP:0012332HP:0012332Abnormal autonomic nervous system physiology0CCT5 CL E G H22948139578ORPHA13141618610150
HP:0012332HP:0012332Abnormal autonomic nervous system physiology0ECE1 CL E G H1889613870Hirschsprung disease, cardiac defects, and autonomic dysfunction613870C3151237OMIM1493146600423
HP:0012332HP:0012332Abnormal autonomic nervous system physiology0FBXO7 CL E G H25793171695ORPHA119113586605648
HP:0012332HP:0012332Abnormal autonomic nervous system physiology0FMR1 CL E G H233293256ORPHA13383775309550
HP:0012332HP:0012332Abnormal autonomic nervous system physiology0GABBR2 CL E G H9568617903NEURODEVELOPMENTAL DISORDER WITH POOR LANGUAGE AND LOSS OF HAND SKILLS617903CN870852OMIM16824507607340
HP:0012332HP:0012332Abnormal autonomic nervous system physiology0GLA CL E G H2717301500Fabry disease301500C0002986OMIM110024296300644
HP:0012332HP:0012332Abnormal autonomic nervous system physiology0LIFR CL E G H39773206ORPHA17216597151443
HP:0012332HP:0012332Abnormal autonomic nervous system physiology0LIFR CL E G H3977601559Stuve-Wiedemann syndrome601559C0796176OMIM17216597151443
HP:0012332HP:0012332Abnormal autonomic nervous system physiology0PHOX2B CL E G H892999803Haddad syndromeC1859587ORPHA18409143603851
HP:0012332HP:0012332Abnormal autonomic nervous system physiology0PRNP CL E G H5621282166ORPHA11649449176640
HP:0012332HP:0012332Abnormal autonomic nervous system physiology0PRNP CL E G H5621600072Fatal familial insomnia600072C0206042OMIM11649449176640
HP:0012332HP:0012332Abnormal autonomic nervous system physiology0RET CL E G H597999803Haddad syndromeC1859587ORPHA126929967164761
HP:0012332HP:0012332Abnormal autonomic nervous system physiology0SCN11A CL E G H11280615552Episodic pain syndrome, familial, 3615552C3809899OMIM1100410583604385
HP:0012332HP:0012332Abnormal autonomic nervous system physiology0SCN11A CL E G H11280615548Neuropathy, hereditary sensory and autonomic, type VII615548C3809882OMIM1100410583604385
HP:0012332HP:0012332Abnormal autonomic nervous system physiology0SCN3A CL E G H6328617935EPILEPSY, FAMILIAL FOCAL, WITH VARIABLE FOCI 4617935CN244552OMIM1109610590182391
HP:0012332HP:0012332Abnormal autonomic nervous system physiology0SCN9A CL E G H6335243000Indifference to pain, congenital, autosomal recessive243000C1855739OMIM1190710597603415
HP:0012332HP:0012332Abnormal autonomic nervous system physiology0SLC18A2 CL E G H6571618049PARKINSONISM-DYSTONIA, INFANTILE, 2618049CN248785OMIM112410935193001
HP:0012332HP:0012332Abnormal autonomic nervous system physiology0SNCA CL E G H6622171695ORPHA117711138163890
HP:0012332HP:0012332Abnormal autonomic nervous system physiology0SOX10 CL E G H6663609136Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease609136C1836727OMIM130211190602229
HP:0012332HP:0012332Abnormal autonomic nervous system physiology0TCF4 CL E G H6925610954Pitt-Hopkins syndrome610954C1970431OMIM191311634602272
HP:0012332HP:0012332Abnormal autonomic nervous system physiology0TSPYL1 CL E G H7259168593ORPHA14812382604714
HP:0012332HP:0012332Abnormal autonomic nervous system physiology0TTR CL E G H727685447ORPHA134112405176300
HP:0012332HP:0012332Abnormal autonomic nervous system physiology0TXN2 CL E G H25828478029ORPHA15017772609063
HP:0012332HP:0012332Abnormal autonomic nervous system physiology0VPS11 CL E G H55823466934ORPHA113914583608549
HP:0012332HP:0012332Abnormal autonomic nervous system physiology0VPS11 CL E G H55823616683Leukodystrophy, hypomyelinating, 12616683C4225247OMIM113914583608549
HP:0012332HP:0012332Abnormal autonomic nervous system physiology0WDR45 CL E G H11152329284ORPHA150428912300526
HP:0012332HP:0012332Abnormal autonomic nervous system physiology0WDR45 CL E G H11152300894Neurodegeneration with brain iron accumulation 5300894C3550973OMIM150428912300526
HP:0012332HP:0012173Orthostatic tachycardia1AAAS CL E G H8086231550Glucocorticoid deficiency with achalasia231550C0271742OMIM118713666605378
HP:0012332HP:0001278Orthostatic hypotension1AAAS CL E G H8086231550Glucocorticoid deficiency with achalasia231550C0271742OMIM118713666605378
HP:0012332HP:0002277Horner syndrome1AAAS CL E G H8086231550Glucocorticoid deficiency with achalasia231550C0271742OMIM118713666605378
HP:0012332HP:0005341Autonomic bladder dysfunction1AAAS CL E G H8086231550Glucocorticoid deficiency with achalasia231550C0271742OMIM118713666605378
HP:0012332HP:0012333Abnormal sudomotor regulation1AAAS CL E G H8086231550Glucocorticoid deficiency with achalasia231550C0271742OMIM118713666605378
HP:0012332HP:0008652Autonomic erectile dysfunction1AAAS CL E G H8086231550Glucocorticoid deficiency with achalasia231550C0271742OMIM118713666605378
HP:0012332HP:0012173Orthostatic tachycardia1ASCL1 CL E G H42999803Haddad syndromeC1859587ORPHA132738100790
HP:0012332HP:0001278Orthostatic hypotension1ASCL1 CL E G H42999803Haddad syndromeC1859587ORPHA132738100790
HP:0012332HP:0005341Autonomic bladder dysfunction1ASCL1 CL E G H42999803Haddad syndromeC1859587ORPHA132738100790
HP:0012332HP:0002277Horner syndrome1ASCL1 CL E G H42999803Haddad syndromeC1859587ORPHA132738100790
HP:0012332HP:0012333Abnormal sudomotor regulation1ASCL1 CL E G H42999803Haddad syndromeC1859587ORPHA132738100790
HP:0012332HP:0008652Autonomic erectile dysfunction1ASCL1 CL E G H42999803Haddad syndromeC1859587ORPHA132738100790
HP:0012332HP:0012333Abnormal sudomotor regulation1BRAT1 CL E G H221927614498Rigidity and multifocal seizure syndrome, lethal neonatal614498C3281029OMIM196021701614506
HP:0012332HP:0008652Autonomic erectile dysfunction1BRAT1 CL E G H221927614498Rigidity and multifocal seizure syndrome, lethal neonatal614498C3281029OMIM196021701614506
HP:0012332HP:0012173Orthostatic tachycardia1BRAT1 CL E G H221927614498Rigidity and multifocal seizure syndrome, lethal neonatal614498C3281029OMIM196021701614506
HP:0012332HP:0001278Orthostatic hypotension1BRAT1 CL E G H221927614498Rigidity and multifocal seizure syndrome, lethal neonatal614498C3281029OMIM196021701614506
HP:0012332HP:0005341Autonomic bladder dysfunction1BRAT1 CL E G H221927614498Rigidity and multifocal seizure syndrome, lethal neonatal614498C3281029OMIM196021701614506
HP:0012332HP:0002277Horner syndrome1BRAT1 CL E G H221927614498Rigidity and multifocal seizure syndrome, lethal neonatal614498C3281029OMIM196021701614506
HP:0012332HP:0012333Abnormal sudomotor regulation1CCT5 CL E G H22948139578ORPHA13141618610150
HP:0012332HP:0008652Autonomic erectile dysfunction1CCT5 CL E G H22948139578ORPHA13141618610150
HP:0012332HP:0001278Orthostatic hypotension1CCT5 CL E G H22948139578ORPHA13141618610150
HP:0012332HP:0012173Orthostatic tachycardia1CCT5 CL E G H22948139578ORPHA13141618610150
HP:0012332HP:0002277Horner syndrome1CCT5 CL E G H22948139578ORPHA13141618610150
HP:0012332HP:0005341Autonomic bladder dysfunction1CCT5 CL E G H22948139578ORPHA13141618610150
HP:0012332HP:0001278Orthostatic hypotension1ECE1 CL E G H1889613870Hirschsprung disease, cardiac defects, and autonomic dysfunction613870C3151237OMIM1493146600423
HP:0012332HP:0012173Orthostatic tachycardia1ECE1 CL E G H1889613870Hirschsprung disease, cardiac defects, and autonomic dysfunction613870C3151237OMIM1493146600423
HP:0012332HP:0002277Horner syndrome1ECE1 CL E G H1889613870Hirschsprung disease, cardiac defects, and autonomic dysfunction613870C3151237OMIM1493146600423
HP:0012332HP:0005341Autonomic bladder dysfunction1ECE1 CL E G H1889613870Hirschsprung disease, cardiac defects, and autonomic dysfunction613870C3151237OMIM1493146600423
HP:0012332HP:0012333Abnormal sudomotor regulation1ECE1 CL E G H1889613870Hirschsprung disease, cardiac defects, and autonomic dysfunction613870C3151237OMIM1493146600423
HP:0012332HP:0008652Autonomic erectile dysfunction1ECE1 CL E G H1889613870Hirschsprung disease, cardiac defects, and autonomic dysfunction613870C3151237OMIM1493146600423
HP:0012332HP:0012333Abnormal sudomotor regulation1FBXO7 CL E G H25793171695ORPHA119113586605648
HP:0012332HP:0008652Autonomic erectile dysfunction1FBXO7 CL E G H25793171695ORPHA119113586605648
HP:0012332HP:0001278Orthostatic hypotension1FBXO7 CL E G H25793171695ORPHA119113586605648
HP:0012332HP:0012173Orthostatic tachycardia1FBXO7 CL E G H25793171695ORPHA119113586605648
HP:0012332HP:0002277Horner syndrome1FBXO7 CL E G H25793171695ORPHA119113586605648
HP:0012332HP:0005341Autonomic bladder dysfunction1FBXO7 CL E G H25793171695ORPHA119113586605648
HP:0012332HP:0012333Abnormal sudomotor regulation1FMR1 CL E G H233293256ORPHA13383775309550
HP:0012332HP:0008652Autonomic erectile dysfunction1FMR1 CL E G H233293256ORPHA13383775309550
HP:0012332HP:0001278Orthostatic hypotension1FMR1 CL E G H233293256ORPHA13383775309550
HP:0012332HP:0012173Orthostatic tachycardia1FMR1 CL E G H233293256ORPHA13383775309550
HP:0012332HP:0002277Horner syndrome1FMR1 CL E G H233293256ORPHA13383775309550
HP:0012332HP:0005341Autonomic bladder dysfunction1FMR1 CL E G H233293256ORPHA13383775309550
HP:0012332HP:0001278Orthostatic hypotension1GABBR2 CL E G H9568617903NEURODEVELOPMENTAL DISORDER WITH POOR LANGUAGE AND LOSS OF HAND SKILLS617903CN870852OMIM16824507607340
HP:0012332HP:0012173Orthostatic tachycardia1GABBR2 CL E G H9568617903NEURODEVELOPMENTAL DISORDER WITH POOR LANGUAGE AND LOSS OF HAND SKILLS617903CN870852OMIM16824507607340
HP:0012332HP:0002277Horner syndrome1GABBR2 CL E G H9568617903NEURODEVELOPMENTAL DISORDER WITH POOR LANGUAGE AND LOSS OF HAND SKILLS617903CN870852OMIM16824507607340
HP:0012332HP:0005341Autonomic bladder dysfunction1GABBR2 CL E G H9568617903NEURODEVELOPMENTAL DISORDER WITH POOR LANGUAGE AND LOSS OF HAND SKILLS617903CN870852OMIM16824507607340
HP:0012332HP:0012333Abnormal sudomotor regulation1GABBR2 CL E G H9568617903NEURODEVELOPMENTAL DISORDER WITH POOR LANGUAGE AND LOSS OF HAND SKILLS617903CN870852OMIM16824507607340
HP:0012332HP:0008652Autonomic erectile dysfunction1GABBR2 CL E G H9568617903NEURODEVELOPMENTAL DISORDER WITH POOR LANGUAGE AND LOSS OF HAND SKILLS617903CN870852OMIM16824507607340
HP:0012332HP:0012333Abnormal sudomotor regulation1GLA CL E G H2717301500Fabry disease301500C0002986OMIM110024296300644
HP:0012332HP:0008652Autonomic erectile dysfunction1GLA CL E G H2717301500Fabry disease301500C0002986OMIM110024296300644
HP:0012332HP:0001278Orthostatic hypotension1GLA CL E G H2717301500Fabry disease301500C0002986OMIM110024296300644
HP:0012332HP:0012173Orthostatic tachycardia1GLA CL E G H2717301500Fabry disease301500C0002986OMIM110024296300644
HP:0012332HP:0002277Horner syndrome1GLA CL E G H2717301500Fabry disease301500C0002986OMIM110024296300644
HP:0012332HP:0005341Autonomic bladder dysfunction1GLA CL E G H2717301500Fabry disease301500C0002986OMIM110024296300644
HP:0012332HP:0012333Abnormal sudomotor regulation1LIFR CL E G H39773206ORPHA17216597151443
HP:0012332HP:0008652Autonomic erectile dysfunction1LIFR CL E G H39773206ORPHA17216597151443
HP:0012332HP:0001278Orthostatic hypotension1LIFR CL E G H39773206ORPHA17216597151443
HP:0012332HP:0012173Orthostatic tachycardia1LIFR CL E G H39773206ORPHA17216597151443
HP:0012332HP:0002277Horner syndrome1LIFR CL E G H39773206ORPHA17216597151443
HP:0012332HP:0005341Autonomic bladder dysfunction1LIFR CL E G H39773206ORPHA17216597151443
HP:0012332HP:0012333Abnormal sudomotor regulation1LIFR CL E G H3977601559Stuve-Wiedemann syndrome601559C0796176OMIM17216597151443
HP:0012332HP:0008652Autonomic erectile dysfunction1LIFR CL E G H3977601559Stuve-Wiedemann syndrome601559C0796176OMIM17216597151443
HP:0012332HP:0012173Orthostatic tachycardia1LIFR CL E G H3977601559Stuve-Wiedemann syndrome601559C0796176OMIM17216597151443
HP:0012332HP:0001278Orthostatic hypotension1LIFR CL E G H3977601559Stuve-Wiedemann syndrome601559C0796176OMIM17216597151443
HP:0012332HP:0002277Horner syndrome1LIFR CL E G H3977601559Stuve-Wiedemann syndrome601559C0796176OMIM17216597151443
HP:0012332HP:0005341Autonomic bladder dysfunction1LIFR CL E G H3977601559Stuve-Wiedemann syndrome601559C0796176OMIM17216597151443
HP:0012332HP:0012333Abnormal sudomotor regulation1PHOX2B CL E G H892999803Haddad syndromeC1859587ORPHA18409143603851
HP:0012332HP:0008652Autonomic erectile dysfunction1PHOX2B CL E G H892999803Haddad syndromeC1859587ORPHA18409143603851
HP:0012332HP:0001278Orthostatic hypotension1PHOX2B CL E G H892999803Haddad syndromeC1859587ORPHA18409143603851
HP:0012332HP:0012173Orthostatic tachycardia1PHOX2B CL E G H892999803Haddad syndromeC1859587ORPHA18409143603851
HP:0012332HP:0002277Horner syndrome1PHOX2B CL E G H892999803Haddad syndromeC1859587ORPHA18409143603851
HP:0012332HP:0005341Autonomic bladder dysfunction1PHOX2B CL E G H892999803Haddad syndromeC1859587ORPHA18409143603851
HP:0012332HP:0012333Abnormal sudomotor regulation1PRNP CL E G H5621282166ORPHA11649449176640
HP:0012332HP:0008652Autonomic erectile dysfunction1PRNP CL E G H5621282166ORPHA11649449176640
HP:0012332HP:0012173Orthostatic tachycardia1PRNP CL E G H5621282166ORPHA11649449176640
HP:0012332HP:0001278Orthostatic hypotension1PRNP CL E G H5621282166ORPHA11649449176640
HP:0012332HP:0002277Horner syndrome1PRNP CL E G H5621282166ORPHA11649449176640
HP:0012332HP:0005341Autonomic bladder dysfunction1PRNP CL E G H5621282166ORPHA11649449176640
HP:0012332HP:0001278Orthostatic hypotension1PRNP CL E G H5621600072Fatal familial insomnia600072C0206042OMIM11649449176640
HP:0012332HP:0012173Orthostatic tachycardia1PRNP CL E G H5621600072Fatal familial insomnia600072C0206042OMIM11649449176640
HP:0012332HP:0002277Horner syndrome1PRNP CL E G H5621600072Fatal familial insomnia600072C0206042OMIM11649449176640
HP:0012332HP:0005341Autonomic bladder dysfunction1PRNP CL E G H5621600072Fatal familial insomnia600072C0206042OMIM11649449176640
HP:0012332HP:0012333Abnormal sudomotor regulation1PRNP CL E G H5621600072Fatal familial insomnia600072C0206042OMIM11649449176640
HP:0012332HP:0008652Autonomic erectile dysfunction1PRNP CL E G H5621600072Fatal familial insomnia600072C0206042OMIM11649449176640
HP:0012332HP:0012173Orthostatic tachycardia1RET CL E G H597999803Haddad syndromeC1859587ORPHA126929967164761
HP:0012332HP:0001278Orthostatic hypotension1RET CL E G H597999803Haddad syndromeC1859587ORPHA126929967164761
HP:0012332HP:0002277Horner syndrome1RET CL E G H597999803Haddad syndromeC1859587ORPHA126929967164761
HP:0012332HP:0005341Autonomic bladder dysfunction1RET CL E G H597999803Haddad syndromeC1859587ORPHA126929967164761
HP:0012332HP:0012333Abnormal sudomotor regulation1RET CL E G H597999803Haddad syndromeC1859587ORPHA126929967164761
HP:0012332HP:0008652Autonomic erectile dysfunction1RET CL E G H597999803Haddad syndromeC1859587ORPHA126929967164761
HP:0012332HP:0012333Abnormal sudomotor regulation1SCN11A CL E G H11280615552Episodic pain syndrome, familial, 3615552C3809899OMIM1100410583604385
HP:0012332HP:0008652Autonomic erectile dysfunction1SCN11A CL E G H11280615552Episodic pain syndrome, familial, 3615552C3809899OMIM1100410583604385
HP:0012332HP:0012173Orthostatic tachycardia1SCN11A CL E G H11280615552Episodic pain syndrome, familial, 3615552C3809899OMIM1100410583604385
HP:0012332HP:0001278Orthostatic hypotension1SCN11A CL E G H11280615552Episodic pain syndrome, familial, 3615552C3809899OMIM1100410583604385
HP:0012332HP:0005341Autonomic bladder dysfunction1SCN11A CL E G H11280615552Episodic pain syndrome, familial, 3615552C3809899OMIM1100410583604385
HP:0012332HP:0002277Horner syndrome1SCN11A CL E G H11280615552Episodic pain syndrome, familial, 3615552C3809899OMIM1100410583604385
HP:0012332HP:0001278Orthostatic hypotension1SCN11A CL E G H11280615548Neuropathy, hereditary sensory and autonomic, type VII615548C3809882OMIM1100410583604385
HP:0012332HP:0012173Orthostatic tachycardia1SCN11A CL E G H11280615548Neuropathy, hereditary sensory and autonomic, type VII615548C3809882OMIM1100410583604385
HP:0012332HP:0002277Horner syndrome1SCN11A CL E G H11280615548Neuropathy, hereditary sensory and autonomic, type VII615548C3809882OMIM1100410583604385
HP:0012332HP:0005341Autonomic bladder dysfunction1SCN11A CL E G H11280615548Neuropathy, hereditary sensory and autonomic, type VII615548C3809882OMIM1100410583604385
HP:0012332HP:0012333Abnormal sudomotor regulation1SCN11A CL E G H11280615548Neuropathy, hereditary sensory and autonomic, type VII615548C3809882OMIM1100410583604385
HP:0012332HP:0008652Autonomic erectile dysfunction1SCN11A CL E G H11280615548Neuropathy, hereditary sensory and autonomic, type VII615548C3809882OMIM1100410583604385
HP:0012332HP:0012333Abnormal sudomotor regulation1SCN3A CL E G H6328617935EPILEPSY, FAMILIAL FOCAL, WITH VARIABLE FOCI 4617935CN244552OMIM1109610590182391
HP:0012332HP:0008652Autonomic erectile dysfunction1SCN3A CL E G H6328617935EPILEPSY, FAMILIAL FOCAL, WITH VARIABLE FOCI 4617935CN244552OMIM1109610590182391
HP:0012332HP:0012173Orthostatic tachycardia1SCN3A CL E G H6328617935EPILEPSY, FAMILIAL FOCAL, WITH VARIABLE FOCI 4617935CN244552OMIM1109610590182391
HP:0012332HP:0001278Orthostatic hypotension1SCN3A CL E G H6328617935EPILEPSY, FAMILIAL FOCAL, WITH VARIABLE FOCI 4617935CN244552OMIM1109610590182391
HP:0012332HP:0002277Horner syndrome1SCN3A CL E G H6328617935EPILEPSY, FAMILIAL FOCAL, WITH VARIABLE FOCI 4617935CN244552OMIM1109610590182391
HP:0012332HP:0005341Autonomic bladder dysfunction1SCN3A CL E G H6328617935EPILEPSY, FAMILIAL FOCAL, WITH VARIABLE FOCI 4617935CN244552OMIM1109610590182391
HP:0012332HP:0012333Abnormal sudomotor regulation1SCN9A CL E G H6335243000Indifference to pain, congenital, autosomal recessive243000C1855739OMIM1190710597603415
HP:0012332HP:0008652Autonomic erectile dysfunction1SCN9A CL E G H6335243000Indifference to pain, congenital, autosomal recessive243000C1855739OMIM1190710597603415
HP:0012332HP:0001278Orthostatic hypotension1SCN9A CL E G H6335243000Indifference to pain, congenital, autosomal recessive243000C1855739OMIM1190710597603415
HP:0012332HP:0012173Orthostatic tachycardia1SCN9A CL E G H6335243000Indifference to pain, congenital, autosomal recessive243000C1855739OMIM1190710597603415
HP:0012332HP:0002277Horner syndrome1SCN9A CL E G H6335243000Indifference to pain, congenital, autosomal recessive243000C1855739OMIM1190710597603415
HP:0012332HP:0005341Autonomic bladder dysfunction1SCN9A CL E G H6335243000Indifference to pain, congenital, autosomal recessive243000C1855739OMIM1190710597603415
HP:0012332HP:0001278Orthostatic hypotension1SLC18A2 CL E G H6571618049PARKINSONISM-DYSTONIA, INFANTILE, 2618049CN248785OMIM112410935193001
HP:0012332HP:0012173Orthostatic tachycardia1SLC18A2 CL E G H6571618049PARKINSONISM-DYSTONIA, INFANTILE, 2618049CN248785OMIM112410935193001
HP:0012332HP:0002277Horner syndrome1SLC18A2 CL E G H6571618049PARKINSONISM-DYSTONIA, INFANTILE, 2618049CN248785OMIM112410935193001
HP:0012332HP:0005341Autonomic bladder dysfunction1SLC18A2 CL E G H6571618049PARKINSONISM-DYSTONIA, INFANTILE, 2618049CN248785OMIM112410935193001
HP:0012332HP:0012333Abnormal sudomotor regulation1SLC18A2 CL E G H6571618049PARKINSONISM-DYSTONIA, INFANTILE, 2618049CN248785OMIM112410935193001
HP:0012332HP:0008652Autonomic erectile dysfunction1SLC18A2 CL E G H6571618049PARKINSONISM-DYSTONIA, INFANTILE, 2618049CN248785OMIM112410935193001
HP:0012332HP:0001278Orthostatic hypotension1SNCA CL E G H6622171695ORPHA117711138163890
HP:0012332HP:0012173Orthostatic tachycardia1SNCA CL E G H6622171695ORPHA117711138163890
HP:0012332HP:0002277Horner syndrome1SNCA CL E G H6622171695ORPHA117711138163890
HP:0012332HP:0005341Autonomic bladder dysfunction1SNCA CL E G H6622171695ORPHA117711138163890
HP:0012332HP:0012333Abnormal sudomotor regulation1SNCA CL E G H6622171695ORPHA117711138163890
HP:0012332HP:0008652Autonomic erectile dysfunction1SNCA CL E G H6622171695ORPHA117711138163890
HP:0012332HP:0001278Orthostatic hypotension1SOX10 CL E G H6663609136Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease609136C1836727OMIM130211190602229
HP:0012332HP:0012173Orthostatic tachycardia1SOX10 CL E G H6663609136Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease609136C1836727OMIM130211190602229
HP:0012332HP:0002277Horner syndrome1SOX10 CL E G H6663609136Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease609136C1836727OMIM130211190602229
HP:0012332HP:0005341Autonomic bladder dysfunction1SOX10 CL E G H6663609136Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease609136C1836727OMIM130211190602229
HP:0012332HP:0012333Abnormal sudomotor regulation1SOX10 CL E G H6663609136Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease609136C1836727OMIM130211190602229
HP:0012332HP:0008652Autonomic erectile dysfunction1SOX10 CL E G H6663609136Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease609136C1836727OMIM130211190602229
HP:0012332HP:0012333Abnormal sudomotor regulation1TCF4 CL E G H6925610954Pitt-Hopkins syndrome610954C1970431OMIM191311634602272
HP:0012332HP:0008652Autonomic erectile dysfunction1TCF4 CL E G H6925610954Pitt-Hopkins syndrome610954C1970431OMIM191311634602272
HP:0012332HP:0012173Orthostatic tachycardia1TCF4 CL E G H6925610954Pitt-Hopkins syndrome610954C1970431OMIM191311634602272
HP:0012332HP:0001278Orthostatic hypotension1TCF4 CL E G H6925610954Pitt-Hopkins syndrome610954C1970431OMIM191311634602272
HP:0012332HP:0005341Autonomic bladder dysfunction1TCF4 CL E G H6925610954Pitt-Hopkins syndrome610954C1970431OMIM191311634602272
HP:0012332HP:0002277Horner syndrome1TCF4 CL E G H6925610954Pitt-Hopkins syndrome610954C1970431OMIM191311634602272
HP:0012332HP:0012173Orthostatic tachycardia1TSPYL1 CL E G H7259168593ORPHA14812382604714
HP:0012332HP:0001278Orthostatic hypotension1TSPYL1 CL E G H7259168593ORPHA14812382604714
HP:0012332HP:0002277Horner syndrome1TSPYL1 CL E G H7259168593ORPHA14812382604714
HP:0012332HP:0005341Autonomic bladder dysfunction1TSPYL1 CL E G H7259168593ORPHA14812382604714
HP:0012332HP:0012333Abnormal sudomotor regulation1TSPYL1 CL E G H7259168593ORPHA14812382604714
HP:0012332HP:0008652Autonomic erectile dysfunction1TSPYL1 CL E G H7259168593ORPHA14812382604714
HP:0012332HP:0012173Orthostatic tachycardia1TTR CL E G H727685447ORPHA134112405176300
HP:0012332HP:0001278Orthostatic hypotension1TTR CL E G H727685447ORPHA134112405176300
HP:0012332HP:0005341Autonomic bladder dysfunction1TTR CL E G H727685447ORPHA134112405176300
HP:0012332HP:0002277Horner syndrome1TTR CL E G H727685447ORPHA134112405176300
HP:0012332HP:0012333Abnormal sudomotor regulation1TTR CL E G H727685447ORPHA134112405176300
HP:0012332HP:0008652Autonomic erectile dysfunction1TTR CL E G H727685447ORPHA134112405176300
HP:0012332HP:0012333Abnormal sudomotor regulation1TXN2 CL E G H25828478029ORPHA15017772609063
HP:0012332HP:0008652Autonomic erectile dysfunction1TXN2 CL E G H25828478029ORPHA15017772609063
HP:0012332HP:0012173Orthostatic tachycardia1TXN2 CL E G H25828478029ORPHA15017772609063
HP:0012332HP:0001278Orthostatic hypotension1TXN2 CL E G H25828478029ORPHA15017772609063
HP:0012332HP:0005341Autonomic bladder dysfunction1TXN2 CL E G H25828478029ORPHA15017772609063
HP:0012332HP:0002277Horner syndrome1TXN2 CL E G H25828478029ORPHA15017772609063
HP:0012332HP:0001278Orthostatic hypotension1VPS11 CL E G H55823466934ORPHA113914583608549
HP:0012332HP:0012173Orthostatic tachycardia1VPS11 CL E G H55823466934ORPHA113914583608549
HP:0012332HP:0002277Horner syndrome1VPS11 CL E G H55823466934ORPHA113914583608549
HP:0012332HP:0005341Autonomic bladder dysfunction1VPS11 CL E G H55823466934ORPHA113914583608549
HP:0012332HP:0012333Abnormal sudomotor regulation1VPS11 CL E G H55823466934ORPHA113914583608549
HP:0012332HP:0008652Autonomic erectile dysfunction1VPS11 CL E G H55823466934ORPHA113914583608549
HP:0012332HP:0001278Orthostatic hypotension1VPS11 CL E G H55823616683Leukodystrophy, hypomyelinating, 12616683C4225247OMIM113914583608549
HP:0012332HP:0012173Orthostatic tachycardia1VPS11 CL E G H55823616683Leukodystrophy, hypomyelinating, 12616683C4225247OMIM113914583608549
HP:0012332HP:0002277Horner syndrome1VPS11 CL E G H55823616683Leukodystrophy, hypomyelinating, 12616683C4225247OMIM113914583608549
HP:0012332HP:0005341Autonomic bladder dysfunction1VPS11 CL E G H55823616683Leukodystrophy, hypomyelinating, 12616683C4225247OMIM113914583608549
HP:0012332HP:0012333Abnormal sudomotor regulation1VPS11 CL E G H55823616683Leukodystrophy, hypomyelinating, 12616683C4225247OMIM113914583608549
HP:0012332HP:0008652Autonomic erectile dysfunction1VPS11 CL E G H55823616683Leukodystrophy, hypomyelinating, 12616683C4225247OMIM113914583608549
HP:0012332HP:0012333Abnormal sudomotor regulation1WDR45 CL E G H11152329284ORPHA150428912300526
HP:0012332HP:0008652Autonomic erectile dysfunction1WDR45 CL E G H11152329284ORPHA150428912300526
HP:0012332HP:0012173Orthostatic tachycardia1WDR45 CL E G H11152329284ORPHA150428912300526
HP:0012332HP:0001278Orthostatic hypotension1WDR45 CL E G H11152329284ORPHA150428912300526
HP:0012332HP:0005341Autonomic bladder dysfunction1WDR45 CL E G H11152329284ORPHA150428912300526
HP:0012332HP:0002277Horner syndrome1WDR45 CL E G H11152329284ORPHA150428912300526
HP:0012332HP:0012173Orthostatic tachycardia1WDR45 CL E G H11152300894Neurodegeneration with brain iron accumulation 5300894C3550973OMIM150428912300526
HP:0012332HP:0001278Orthostatic hypotension1WDR45 CL E G H11152300894Neurodegeneration with brain iron accumulation 5300894C3550973OMIM150428912300526
HP:0012332HP:0002277Horner syndrome1WDR45 CL E G H11152300894Neurodegeneration with brain iron accumulation 5300894C3550973OMIM150428912300526
HP:0012332HP:0005341Autonomic bladder dysfunction1WDR45 CL E G H11152300894Neurodegeneration with brain iron accumulation 5300894C3550973OMIM150428912300526
HP:0012332HP:0012333Abnormal sudomotor regulation1WDR45 CL E G H11152300894Neurodegeneration with brain iron accumulation 5300894C3550973OMIM150428912300526
HP:0012332HP:0008652Autonomic erectile dysfunction1WDR45 CL E G H11152300894Neurodegeneration with brain iron accumulation 5300894C3550973OMIM150428912300526
HP:0012332HP:0006837Congenital Horner syndrome2AAAS CL E G H8086231550Glucocorticoid deficiency with achalasia231550C0271742OMIM118713666605378
HP:0012332HP:0005307Postural hypotension with compensatory tachycardia2AAAS CL E G H8086231550Glucocorticoid deficiency with achalasia231550C0271742OMIM118713666605378
HP:0012332HP:0004926Orthostatic hypotension due to autonomic dysfunction2AAAS CL E G H8086231550Glucocorticoid deficiency with achalasia231550C0271742OMIM118713666605378
HP:0012332HP:0006837Congenital Horner syndrome2ASCL1 CL E G H42999803Haddad syndromeC1859587ORPHA132738100790
HP:0012332HP:0005307Postural hypotension with compensatory tachycardia2ASCL1 CL E G H42999803Haddad syndromeC1859587ORPHA132738100790
HP:0012332HP:0004926Orthostatic hypotension due to autonomic dysfunction2ASCL1 CL E G H42999803Haddad syndromeC1859587ORPHA132738100790
HP:0012332HP:0005307Postural hypotension with compensatory tachycardia2BRAT1 CL E G H221927614498Rigidity and multifocal seizure syndrome, lethal neonatal614498C3281029OMIM196021701614506
HP:0012332HP:0004926Orthostatic hypotension due to autonomic dysfunction2BRAT1 CL E G H221927614498Rigidity and multifocal seizure syndrome, lethal neonatal614498C3281029OMIM196021701614506
HP:0012332HP:0006837Congenital Horner syndrome2BRAT1 CL E G H221927614498Rigidity and multifocal seizure syndrome, lethal neonatal614498C3281029OMIM196021701614506
HP:0012332HP:0005307Postural hypotension with compensatory tachycardia2CCT5 CL E G H22948139578ORPHA13141618610150
HP:0012332HP:0004926Orthostatic hypotension due to autonomic dysfunction2CCT5 CL E G H22948139578ORPHA13141618610150
HP:0012332HP:0006837Congenital Horner syndrome2CCT5 CL E G H22948139578ORPHA13141618610150
HP:0012332HP:0006837Congenital Horner syndrome2ECE1 CL E G H1889613870Hirschsprung disease, cardiac defects, and autonomic dysfunction613870C3151237OMIM1493146600423
HP:0012332HP:0005307Postural hypotension with compensatory tachycardia2ECE1 CL E G H1889613870Hirschsprung disease, cardiac defects, and autonomic dysfunction613870C3151237OMIM1493146600423
HP:0012332HP:0004926Orthostatic hypotension due to autonomic dysfunction2ECE1 CL E G H1889613870Hirschsprung disease, cardiac defects, and autonomic dysfunction613870C3151237OMIM1493146600423
HP:0012332HP:0005307Postural hypotension with compensatory tachycardia2FBXO7 CL E G H25793171695ORPHA119113586605648
HP:0012332HP:0004926Orthostatic hypotension due to autonomic dysfunction2FBXO7 CL E G H25793171695ORPHA119113586605648
HP:0012332HP:0006837Congenital Horner syndrome2FBXO7 CL E G H25793171695ORPHA119113586605648
HP:0012332HP:0005307Postural hypotension with compensatory tachycardia2FMR1 CL E G H233293256ORPHA13383775309550
HP:0012332HP:0004926Orthostatic hypotension due to autonomic dysfunction2FMR1 CL E G H233293256ORPHA13383775309550
HP:0012332HP:0006837Congenital Horner syndrome2FMR1 CL E G H233293256ORPHA13383775309550
HP:0012332HP:0006837Congenital Horner syndrome2GABBR2 CL E G H9568617903NEURODEVELOPMENTAL DISORDER WITH POOR LANGUAGE AND LOSS OF HAND SKILLS617903CN870852OMIM16824507607340
HP:0012332HP:0005307Postural hypotension with compensatory tachycardia2GABBR2 CL E G H9568617903NEURODEVELOPMENTAL DISORDER WITH POOR LANGUAGE AND LOSS OF HAND SKILLS617903CN870852OMIM16824507607340
HP:0012332HP:0004926Orthostatic hypotension due to autonomic dysfunction2GABBR2 CL E G H9568617903NEURODEVELOPMENTAL DISORDER WITH POOR LANGUAGE AND LOSS OF HAND SKILLS617903CN870852OMIM16824507607340
HP:0012332HP:0005307Postural hypotension with compensatory tachycardia2GLA CL E G H2717301500Fabry disease301500C0002986OMIM110024296300644
HP:0012332HP:0004926Orthostatic hypotension due to autonomic dysfunction2GLA CL E G H2717301500Fabry disease301500C0002986OMIM110024296300644
HP:0012332HP:0006837Congenital Horner syndrome2GLA CL E G H2717301500Fabry disease301500C0002986OMIM110024296300644
HP:0012332HP:0005307Postural hypotension with compensatory tachycardia2LIFR CL E G H39773206ORPHA17216597151443
HP:0012332HP:0004926Orthostatic hypotension due to autonomic dysfunction2LIFR CL E G H39773206ORPHA17216597151443
HP:0012332HP:0006837Congenital Horner syndrome2LIFR CL E G H39773206ORPHA17216597151443
HP:0012332HP:0005307Postural hypotension with compensatory tachycardia2LIFR CL E G H3977601559Stuve-Wiedemann syndrome601559C0796176OMIM17216597151443
HP:0012332HP:0004926Orthostatic hypotension due to autonomic dysfunction2LIFR CL E G H3977601559Stuve-Wiedemann syndrome601559C0796176OMIM17216597151443
HP:0012332HP:0006837Congenital Horner syndrome2LIFR CL E G H3977601559Stuve-Wiedemann syndrome601559C0796176OMIM17216597151443
HP:0012332HP:0005307Postural hypotension with compensatory tachycardia2PHOX2B CL E G H892999803Haddad syndromeC1859587ORPHA18409143603851
HP:0012332HP:0004926Orthostatic hypotension due to autonomic dysfunction2PHOX2B CL E G H892999803Haddad syndromeC1859587ORPHA18409143603851
HP:0012332HP:0006837Congenital Horner syndrome2PHOX2B CL E G H892999803Haddad syndromeC1859587ORPHA18409143603851
HP:0012332HP:0005307Postural hypotension with compensatory tachycardia2PRNP CL E G H5621282166ORPHA11649449176640
HP:0012332HP:0004926Orthostatic hypotension due to autonomic dysfunction2PRNP CL E G H5621282166ORPHA11649449176640
HP:0012332HP:0006837Congenital Horner syndrome2PRNP CL E G H5621282166ORPHA11649449176640
HP:0012332HP:0006837Congenital Horner syndrome2PRNP CL E G H5621600072Fatal familial insomnia600072C0206042OMIM11649449176640
HP:0012332HP:0005307Postural hypotension with compensatory tachycardia2PRNP CL E G H5621600072Fatal familial insomnia600072C0206042OMIM11649449176640
HP:0012332HP:0004926Orthostatic hypotension due to autonomic dysfunction2PRNP CL E G H5621600072Fatal familial insomnia600072C0206042OMIM11649449176640
HP:0012332HP:0006837Congenital Horner syndrome2RET CL E G H597999803Haddad syndromeC1859587ORPHA126929967164761
HP:0012332HP:0005307Postural hypotension with compensatory tachycardia2RET CL E G H597999803Haddad syndromeC1859587ORPHA126929967164761
HP:0012332HP:0004926Orthostatic hypotension due to autonomic dysfunction2RET CL E G H597999803Haddad syndromeC1859587ORPHA126929967164761
HP:0012332HP:0005307Postural hypotension with compensatory tachycardia2SCN11A CL E G H11280615552Episodic pain syndrome, familial, 3615552C3809899OMIM1100410583604385
HP:0012332HP:0004926Orthostatic hypotension due to autonomic dysfunction2SCN11A CL E G H11280615552Episodic pain syndrome, familial, 3615552C3809899OMIM1100410583604385
HP:0012332HP:0006837Congenital Horner syndrome2SCN11A CL E G H11280615552Episodic pain syndrome, familial, 3615552C3809899OMIM1100410583604385
HP:0012332HP:0006837Congenital Horner syndrome2SCN11A CL E G H11280615548Neuropathy, hereditary sensory and autonomic, type VII615548C3809882OMIM1100410583604385
HP:0012332HP:0005307Postural hypotension with compensatory tachycardia2SCN11A CL E G H11280615548Neuropathy, hereditary sensory and autonomic, type VII615548C3809882OMIM1100410583604385
HP:0012332HP:0004926Orthostatic hypotension due to autonomic dysfunction2SCN11A CL E G H11280615548Neuropathy, hereditary sensory and autonomic, type VII615548C3809882OMIM1100410583604385
HP:0012332HP:0005307Postural hypotension with compensatory tachycardia2SCN3A CL E G H6328617935EPILEPSY, FAMILIAL FOCAL, WITH VARIABLE FOCI 4617935CN244552OMIM1109610590182391
HP:0012332HP:0004926Orthostatic hypotension due to autonomic dysfunction2SCN3A CL E G H6328617935EPILEPSY, FAMILIAL FOCAL, WITH VARIABLE FOCI 4617935CN244552OMIM1109610590182391
HP:0012332HP:0006837Congenital Horner syndrome2SCN3A CL E G H6328617935EPILEPSY, FAMILIAL FOCAL, WITH VARIABLE FOCI 4617935CN244552OMIM1109610590182391
HP:0012332HP:0005307Postural hypotension with compensatory tachycardia2SCN9A CL E G H6335243000Indifference to pain, congenital, autosomal recessive243000C1855739OMIM1190710597603415
HP:0012332HP:0004926Orthostatic hypotension due to autonomic dysfunction2SCN9A CL E G H6335243000Indifference to pain, congenital, autosomal recessive243000C1855739OMIM1190710597603415
HP:0012332HP:0006837Congenital Horner syndrome2SCN9A CL E G H6335243000Indifference to pain, congenital, autosomal recessive243000C1855739OMIM1190710597603415
HP:0012332HP:0006837Congenital Horner syndrome2SLC18A2 CL E G H6571618049PARKINSONISM-DYSTONIA, INFANTILE, 2618049CN248785OMIM112410935193001
HP:0012332HP:0005307Postural hypotension with compensatory tachycardia2SLC18A2 CL E G H6571618049PARKINSONISM-DYSTONIA, INFANTILE, 2618049CN248785OMIM112410935193001
HP:0012332HP:0004926Orthostatic hypotension due to autonomic dysfunction2SLC18A2 CL E G H6571618049PARKINSONISM-DYSTONIA, INFANTILE, 2618049CN248785OMIM112410935193001
HP:0012332HP:0006837Congenital Horner syndrome2SNCA CL E G H6622171695ORPHA117711138163890
HP:0012332HP:0005307Postural hypotension with compensatory tachycardia2SNCA CL E G H6622171695ORPHA117711138163890
HP:0012332HP:0004926Orthostatic hypotension due to autonomic dysfunction2SNCA CL E G H6622171695ORPHA117711138163890
HP:0012332HP:0006837Congenital Horner syndrome2SOX10 CL E G H6663609136Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease609136C1836727OMIM130211190602229
HP:0012332HP:0005307Postural hypotension with compensatory tachycardia2SOX10 CL E G H6663609136Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease609136C1836727OMIM130211190602229
HP:0012332HP:0004926Orthostatic hypotension due to autonomic dysfunction2SOX10 CL E G H6663609136Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease609136C1836727OMIM130211190602229
HP:0012332HP:0005307Postural hypotension with compensatory tachycardia2TCF4 CL E G H6925610954Pitt-Hopkins syndrome610954C1970431OMIM191311634602272
HP:0012332HP:0004926Orthostatic hypotension due to autonomic dysfunction2TCF4 CL E G H6925610954Pitt-Hopkins syndrome610954C1970431OMIM191311634602272
HP:0012332HP:0006837Congenital Horner syndrome2TCF4 CL E G H6925610954Pitt-Hopkins syndrome610954C1970431OMIM191311634602272
HP:0012332HP:0006837Congenital Horner syndrome2TSPYL1 CL E G H7259168593ORPHA14812382604714
HP:0012332HP:0005307Postural hypotension with compensatory tachycardia2TSPYL1 CL E G H7259168593ORPHA14812382604714
HP:0012332HP:0004926Orthostatic hypotension due to autonomic dysfunction2TSPYL1 CL E G H7259168593ORPHA14812382604714
HP:0012332HP:0006837Congenital Horner syndrome2TTR CL E G H727685447ORPHA134112405176300
HP:0012332HP:0005307Postural hypotension with compensatory tachycardia2TTR CL E G H727685447ORPHA134112405176300
HP:0012332HP:0004926Orthostatic hypotension due to autonomic dysfunction2TTR CL E G H727685447ORPHA134112405176300
HP:0012332HP:0005307Postural hypotension with compensatory tachycardia2TXN2 CL E G H25828478029ORPHA15017772609063
HP:0012332HP:0004926Orthostatic hypotension due to autonomic dysfunction2TXN2 CL E G H25828478029ORPHA15017772609063
HP:0012332HP:0006837Congenital Horner syndrome2TXN2 CL E G H25828478029ORPHA15017772609063
HP:0012332HP:0006837Congenital Horner syndrome2VPS11 CL E G H55823466934ORPHA113914583608549
HP:0012332HP:0005307Postural hypotension with compensatory tachycardia2VPS11 CL E G H55823466934ORPHA113914583608549
HP:0012332HP:0004926Orthostatic hypotension due to autonomic dysfunction2VPS11 CL E G H55823466934ORPHA113914583608549
HP:0012332HP:0006837Congenital Horner syndrome2VPS11 CL E G H55823616683Leukodystrophy, hypomyelinating, 12616683C4225247OMIM113914583608549
HP:0012332HP:0005307Postural hypotension with compensatory tachycardia2VPS11 CL E G H55823616683Leukodystrophy, hypomyelinating, 12616683C4225247OMIM113914583608549
HP:0012332HP:0004926Orthostatic hypotension due to autonomic dysfunction2VPS11 CL E G H55823616683Leukodystrophy, hypomyelinating, 12616683C4225247OMIM113914583608549
HP:0012332HP:0005307Postural hypotension with compensatory tachycardia2WDR45 CL E G H11152329284ORPHA150428912300526
HP:0012332HP:0004926Orthostatic hypotension due to autonomic dysfunction2WDR45 CL E G H11152329284ORPHA150428912300526
HP:0012332HP:0006837Congenital Horner syndrome2WDR45 CL E G H11152329284ORPHA150428912300526
HP:0012332HP:0006837Congenital Horner syndrome2WDR45 CL E G H11152300894Neurodegeneration with brain iron accumulation 5300894C3550973OMIM150428912300526
HP:0012332HP:0005307Postural hypotension with compensatory tachycardia2WDR45 CL E G H11152300894Neurodegeneration with brain iron accumulation 5300894C3550973OMIM150428912300526
HP:0012332HP:0004926Orthostatic hypotension due to autonomic dysfunction2WDR45 CL E G H11152300894Neurodegeneration with brain iron accumulation 5300894C3550973OMIM150428912300526
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0012332HP:0012332Abnormal autonomic nervous system physiology0ATXN3 CL E G H4287109150Azorean disease109150C0024408OMIM0467106607047
HP:0012332HP:0012332Abnormal autonomic nervous system physiology0CISD2 CL E G H4938563463ORPHA04624212611507
HP:0012332HP:0012332Abnormal autonomic nervous system physiology0NR4A2 CL E G H4929168600Parkinson disease, late-onset168600C3160718OMIM01127981601828
HP:0012332HP:0012332Abnormal autonomic nervous system physiology0SCN9A CL E G H6335133020Primary erythromelalgia133020C0014805OMIM0190710597603415
HP:0012332HP:0012332Abnormal autonomic nervous system physiology0SLC52A2 CL E G H7958197229ORPHA045830224607882
HP:0012332HP:0012332Abnormal autonomic nervous system physiology0SLC52A3 CL E G H11327897229ORPHA039916187613350
HP:0012332HP:0012332Abnormal autonomic nervous system physiology0SNCAIP CL E G H9627168600Parkinson disease, late-onset168600C3160718OMIM011811139603779
HP:0012332HP:0012332Abnormal autonomic nervous system physiology0TUBB3 CL E G H10381300570ORPHA024720772602661
HP:0012332HP:0012332Abnormal autonomic nervous system physiology0VPS13C CL E G H54832616840Parkinson disease 23, autosomal recessive early-onset616840C4225186OMIM052123594608879
HP:0012332HP:0012332Abnormal autonomic nervous system physiology0WFS1 CL E G H74663463ORPHA0126812762606201
HP:0012332HP:0012173Orthostatic tachycardia1ATXN3 CL E G H4287109150Azorean disease109150C0024408OMIM0467106607047
HP:0012332HP:0001278Orthostatic hypotension1ATXN3 CL E G H4287109150Azorean disease109150C0024408OMIM0467106607047
HP:0012332HP:0005341Autonomic bladder dysfunction1ATXN3 CL E G H4287109150Azorean disease109150C0024408OMIM0467106607047
HP:0012332HP:0002277Horner syndrome1ATXN3 CL E G H4287109150Azorean disease109150C0024408OMIM0467106607047
HP:0012332HP:0012333Abnormal sudomotor regulation1ATXN3 CL E G H4287109150Azorean disease109150C0024408OMIM0467106607047
HP:0012332HP:0008652Autonomic erectile dysfunction1ATXN3 CL E G H4287109150Azorean disease109150C0024408OMIM0467106607047
HP:0012332HP:0012173Orthostatic tachycardia1CISD2 CL E G H4938563463ORPHA04624212611507
HP:0012332HP:0001278Orthostatic hypotension1CISD2 CL E G H4938563463ORPHA04624212611507
HP:0012332HP:0002277Horner syndrome1CISD2 CL E G H4938563463ORPHA04624212611507
HP:0012332HP:0005341Autonomic bladder dysfunction1CISD2 CL E G H4938563463ORPHA04624212611507
HP:0012332HP:0012333Abnormal sudomotor regulation1CISD2 CL E G H4938563463ORPHA04624212611507
HP:0012332HP:0008652Autonomic erectile dysfunction1CISD2 CL E G H4938563463ORPHA04624212611507
HP:0012332HP:0012173Orthostatic tachycardia1NR4A2 CL E G H4929168600Parkinson disease, late-onset168600C3160718OMIM01127981601828
HP:0012332HP:0001278Orthostatic hypotension1NR4A2 CL E G H4929168600Parkinson disease, late-onset168600C3160718OMIM01127981601828
HP:0012332HP:0002277Horner syndrome1NR4A2 CL E G H4929168600Parkinson disease, late-onset168600C3160718OMIM01127981601828
HP:0012332HP:0005341Autonomic bladder dysfunction1NR4A2 CL E G H4929168600Parkinson disease, late-onset168600C3160718OMIM01127981601828
HP:0012332HP:0012333Abnormal sudomotor regulation1NR4A2 CL E G H4929168600Parkinson disease, late-onset168600C3160718OMIM01127981601828
HP:0012332HP:0008652Autonomic erectile dysfunction1NR4A2 CL E G H4929168600Parkinson disease, late-onset168600C3160718OMIM01127981601828
HP:0012332HP:0012333Abnormal sudomotor regulation1SCN9A CL E G H6335133020Primary erythromelalgia133020C0014805OMIM0190710597603415
HP:0012332HP:0008652Autonomic erectile dysfunction1SCN9A CL E G H6335133020Primary erythromelalgia133020C0014805OMIM0190710597603415
HP:0012332HP:0001278Orthostatic hypotension1SCN9A CL E G H6335133020Primary erythromelalgia133020C0014805OMIM0190710597603415
HP:0012332HP:0012173Orthostatic tachycardia1SCN9A CL E G H6335133020Primary erythromelalgia133020C0014805OMIM0190710597603415
HP:0012332HP:0002277Horner syndrome1SCN9A CL E G H6335133020Primary erythromelalgia133020C0014805OMIM0190710597603415
HP:0012332HP:0005341Autonomic bladder dysfunction1SCN9A CL E G H6335133020Primary erythromelalgia133020C0014805OMIM0190710597603415
HP:0012332HP:0012173Orthostatic tachycardia1SLC52A2 CL E G H7958197229ORPHA045830224607882
HP:0012332HP:0001278Orthostatic hypotension1SLC52A2 CL E G H7958197229ORPHA045830224607882
HP:0012332HP:0005341Autonomic bladder dysfunction1SLC52A2 CL E G H7958197229ORPHA045830224607882
HP:0012332HP:0002277Horner syndrome1SLC52A2 CL E G H7958197229ORPHA045830224607882
HP:0012332HP:0012333Abnormal sudomotor regulation1SLC52A2 CL E G H7958197229ORPHA045830224607882
HP:0012332HP:0008652Autonomic erectile dysfunction1SLC52A2 CL E G H7958197229ORPHA045830224607882
HP:0012332HP:0012333Abnormal sudomotor regulation1SLC52A3 CL E G H11327897229ORPHA039916187613350
HP:0012332HP:0008652Autonomic erectile dysfunction1SLC52A3 CL E G H11327897229ORPHA039916187613350
HP:0012332HP:0001278Orthostatic hypotension1SLC52A3 CL E G H11327897229ORPHA039916187613350
HP:0012332HP:0012173Orthostatic tachycardia1SLC52A3 CL E G H11327897229ORPHA039916187613350
HP:0012332HP:0002277Horner syndrome1SLC52A3 CL E G H11327897229ORPHA039916187613350
HP:0012332HP:0005341Autonomic bladder dysfunction1SLC52A3 CL E G H11327897229ORPHA039916187613350
HP:0012332HP:0012333Abnormal sudomotor regulation1SNCAIP CL E G H9627168600Parkinson disease, late-onset168600C3160718OMIM011811139603779
HP:0012332HP:0008652Autonomic erectile dysfunction1SNCAIP CL E G H9627168600Parkinson disease, late-onset168600C3160718OMIM011811139603779
HP:0012332HP:0001278Orthostatic hypotension1SNCAIP CL E G H9627168600Parkinson disease, late-onset168600C3160718OMIM011811139603779
HP:0012332HP:0012173Orthostatic tachycardia1SNCAIP CL E G H9627168600Parkinson disease, late-onset168600C3160718OMIM011811139603779
HP:0012332HP:0002277Horner syndrome1SNCAIP CL E G H9627168600Parkinson disease, late-onset168600C3160718OMIM011811139603779
HP:0012332HP:0005341Autonomic bladder dysfunction1SNCAIP CL E G H9627168600Parkinson disease, late-onset168600C3160718OMIM011811139603779
HP:0012332HP:0001278Orthostatic hypotension1TUBB3 CL E G H10381300570ORPHA024720772602661
HP:0012332HP:0012173Orthostatic tachycardia1TUBB3 CL E G H10381300570ORPHA024720772602661
HP:0012332HP:0002277Horner syndrome1TUBB3 CL E G H10381300570ORPHA024720772602661
HP:0012332HP:0005341Autonomic bladder dysfunction1TUBB3 CL E G H10381300570ORPHA024720772602661
HP:0012332HP:0012333Abnormal sudomotor regulation1TUBB3 CL E G H10381300570ORPHA024720772602661
HP:0012332HP:0008652Autonomic erectile dysfunction1TUBB3 CL E G H10381300570ORPHA024720772602661
HP:0012332HP:0012333Abnormal sudomotor regulation1VPS13C CL E G H54832616840Parkinson disease 23, autosomal recessive early-onset616840C4225186OMIM052123594608879
HP:0012332HP:0008652Autonomic erectile dysfunction1VPS13C CL E G H54832616840Parkinson disease 23, autosomal recessive early-onset616840C4225186OMIM052123594608879
HP:0012332HP:0012173Orthostatic tachycardia1VPS13C CL E G H54832616840Parkinson disease 23, autosomal recessive early-onset616840C4225186OMIM052123594608879
HP:0012332HP:0001278Orthostatic hypotension1VPS13C CL E G H54832616840Parkinson disease 23, autosomal recessive early-onset616840C4225186OMIM052123594608879
HP:0012332HP:0002277Horner syndrome1VPS13C CL E G H54832616840Parkinson disease 23, autosomal recessive early-onset616840C4225186OMIM052123594608879
HP:0012332HP:0005341Autonomic bladder dysfunction1VPS13C CL E G H54832616840Parkinson disease 23, autosomal recessive early-onset616840C4225186OMIM052123594608879
HP:0012332HP:0012333Abnormal sudomotor regulation1WFS1 CL E G H74663463ORPHA0126812762606201
HP:0012332HP:0008652Autonomic erectile dysfunction1WFS1 CL E G H74663463ORPHA0126812762606201
HP:0012332HP:0001278Orthostatic hypotension1WFS1 CL E G H74663463ORPHA0126812762606201
HP:0012332HP:0012173Orthostatic tachycardia1WFS1 CL E G H74663463ORPHA0126812762606201
HP:0012332HP:0002277Horner syndrome1WFS1 CL E G H74663463ORPHA0126812762606201
HP:0012332HP:0005341Autonomic bladder dysfunction1WFS1 CL E G H74663463ORPHA0126812762606201
HP:0012332HP:0006837Congenital Horner syndrome2ATXN3 CL E G H4287109150Azorean disease109150C0024408OMIM0467106607047
HP:0012332HP:0005307Postural hypotension with compensatory tachycardia2ATXN3 CL E G H4287109150Azorean disease109150C0024408OMIM0467106607047
HP:0012332HP:0004926Orthostatic hypotension due to autonomic dysfunction2ATXN3 CL E G H4287109150Azorean disease109150C0024408OMIM0467106607047
HP:0012332HP:0006837Congenital Horner syndrome2CISD2 CL E G H4938563463ORPHA04624212611507
HP:0012332HP:0005307Postural hypotension with compensatory tachycardia2CISD2 CL E G H4938563463ORPHA04624212611507
HP:0012332HP:0004926Orthostatic hypotension due to autonomic dysfunction2CISD2 CL E G H4938563463ORPHA04624212611507
HP:0012332HP:0006837Congenital Horner syndrome2NR4A2 CL E G H4929168600Parkinson disease, late-onset168600C3160718OMIM01127981601828
HP:0012332HP:0005307Postural hypotension with compensatory tachycardia2NR4A2 CL E G H4929168600Parkinson disease, late-onset168600C3160718OMIM01127981601828
HP:0012332HP:0004926Orthostatic hypotension due to autonomic dysfunction2NR4A2 CL E G H4929168600Parkinson disease, late-onset168600C3160718OMIM01127981601828
HP:0012332HP:0005307Postural hypotension with compensatory tachycardia2SCN9A CL E G H6335133020Primary erythromelalgia133020C0014805OMIM0190710597603415
HP:0012332HP:0004926Orthostatic hypotension due to autonomic dysfunction2SCN9A CL E G H6335133020Primary erythromelalgia133020C0014805OMIM0190710597603415
HP:0012332HP:0006837Congenital Horner syndrome2SCN9A CL E G H6335133020Primary erythromelalgia133020C0014805OMIM0190710597603415
HP:0012332HP:0006837Congenital Horner syndrome2SLC52A2 CL E G H7958197229ORPHA045830224607882
HP:0012332HP:0005307Postural hypotension with compensatory tachycardia2SLC52A2 CL E G H7958197229ORPHA045830224607882
HP:0012332HP:0004926Orthostatic hypotension due to autonomic dysfunction2SLC52A2 CL E G H7958197229ORPHA045830224607882
HP:0012332HP:0005307Postural hypotension with compensatory tachycardia2SLC52A3 CL E G H11327897229ORPHA039916187613350
HP:0012332HP:0004926Orthostatic hypotension due to autonomic dysfunction2SLC52A3 CL E G H11327897229ORPHA039916187613350
HP:0012332HP:0006837Congenital Horner syndrome2SLC52A3 CL E G H11327897229ORPHA039916187613350
HP:0012332HP:0005307Postural hypotension with compensatory tachycardia2SNCAIP CL E G H9627168600Parkinson disease, late-onset168600C3160718OMIM011811139603779
HP:0012332HP:0004926Orthostatic hypotension due to autonomic dysfunction2SNCAIP CL E G H9627168600Parkinson disease, late-onset168600C3160718OMIM011811139603779
HP:0012332HP:0006837Congenital Horner syndrome2SNCAIP CL E G H9627168600Parkinson disease, late-onset168600C3160718OMIM011811139603779
HP:0012332HP:0006837Congenital Horner syndrome2TUBB3 CL E G H10381300570ORPHA024720772602661
HP:0012332HP:0005307Postural hypotension with compensatory tachycardia2TUBB3 CL E G H10381300570ORPHA024720772602661
HP:0012332HP:0004926Orthostatic hypotension due to autonomic dysfunction2TUBB3 CL E G H10381300570ORPHA024720772602661
HP:0012332HP:0005307Postural hypotension with compensatory tachycardia2VPS13C CL E G H54832616840Parkinson disease 23, autosomal recessive early-onset616840C4225186OMIM052123594608879
HP:0012332HP:0004926Orthostatic hypotension due to autonomic dysfunction2VPS13C CL E G H54832616840Parkinson disease 23, autosomal recessive early-onset616840C4225186OMIM052123594608879
HP:0012332HP:0006837Congenital Horner syndrome2VPS13C CL E G H54832616840Parkinson disease 23, autosomal recessive early-onset616840C4225186OMIM052123594608879
HP:0012332HP:0005307Postural hypotension with compensatory tachycardia2WFS1 CL E G H74663463ORPHA0126812762606201
HP:0012332HP:0004926Orthostatic hypotension due to autonomic dysfunction2WFS1 CL E G H74663463ORPHA0126812762606201
HP:0012332HP:0006837Congenital Horner syndrome2WFS1 CL E G H74663463ORPHA0126812762606201


Genes (69) :AAAS ARSA ASCL1 ATP7A ATXN3 B2M BRAT1 CAV1 CCT5 CISD2 COQ2 CYB561 CYP11B2 DBH DNAJC13 ECE1 EIF4G1 ELP1 FBXO7 FMR1 GABBR2 GBA GBE1 GIGYF2 GLA GMPPA HEXB IL12A IL12RB1 IRF5 LEP LEPR LIFR LMNB1 LRRK2 MMEL1 NME1 NR4A2 NTRK1 PHOX2B POLR3A POU2AF1 PRNP PSAP RET SCN11A SCN3A SCN9A SIM1 SLC18A2 SLC52A2 SLC52A3 SLC6A2 SNCA SNCAIP SOX10 SPIB TCF4 TNFSF15 TNPO3 TSPYL1 TTR TUBB3 TXN2 VPS11 VPS13C VPS35 WDR45 WFS1

Diseases (60) :231550 99803 109150 614498 139578 3463 613870 171695 93256 617903 301500 3206 601559 168600 282166 600072 615552 615548 617935 243000 133020 618049 97229 609136 610954 168593 85447 300570 478029 466934 616683 616840 329284 300894 304150 314652 606721 227510 98933 618182 610600 223360 1764 223900 263570 615510 268800 186 169500 256700 447896 604715 605543 309271 411602 66628 179494 256800 369873 105210
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is August 2021 release.