Human Phenotype Ontology 
Grandparent Node:
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Abnormal involuntary eye movements (HP:0012547)help
Parent Node:
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Nystagmus (HP:0000639)help
..Starting node
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Pendular nystagmus (HP:0012043)help
Term ID: 12043
Name: Pendular nystagmus
Synonym: Nystagmus, continuous pendular; Nystagmus, pendular
Definition: Rhythmic, involuntary sinusoidal oscillations of one or both eyes. The waveform of pendular nystagmus may occur in any direction.
Comments:
Reference: HP:0012043
Genes and Diseases:
 
       Child Nodes:
........expandHorizontal pendular nystagmus (HP:0007811) help
........expandSpasmus nutans (HP:0010533) help
........expandSeesaw nystagmus (HP:0012044) help

 Sister Nodes: 
..expandCongenital nystagmus (HP:0006934) help
..expandDivergence nystagmus (HP:0030691) help
..expandGaze-evoked nystagmus (HP:0000640) help
..expandHorizontal nystagmus (HP:0000666) help
..expandNystagmus-induced head nodding (HP:0001361) help
..expandRotary nystagmus (HP:0001583) help
..expandVertical nystagmus (HP:0010544) help
..expandVestibular nystagmus (HP:0010542) 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:0012043HP:0012043Pendular nystagmus0ADAR CL E G H103225ORPHA:225154Familial infantile bilateral striatal necrosis116
HP:0012043HP:0012043Pendular nystagmus0AIPL1 CL E G H23746359OMIM:604393Leber congenital amaurosis 4.114
HP:0012043HP:0012043Pendular nystagmus0ARHGEF2 CL E G H9181682OMIM:617523Neurodevelopmental disorder with midbrain and hindbrain malformations1
HP:0012043HP:0012043Pendular nystagmus0ATF6 CL E G H22926791ORPHA:49382AchromatopsiaHP:0040281 - Very frequent10
HP:0012043HP:0012043Pendular nystagmus0ATOH7 CL E G H22020213907OMIM:221900Persistent hyperplastic primary vitreous, autosomal recessive.4
HP:0012043HP:0012043Pendular nystagmus0ATP1A2 CL E G H477800ORPHA:569Familial or sporadic hemiplegic migraine239
HP:0012043HP:0012043Pendular nystagmus0ATP6 CL E G H45087414ORPHA:225154Familial infantile bilateral striatal necrosis
HP:0012043HP:0012043Pendular nystagmus0CACNA1A CL E G H7731388ORPHA:569Familial or sporadic hemiplegic migraine449
HP:0012043HP:0012043Pendular nystagmus0CARS1 CL E G H8331493OMIM:618891MICROCEPHALY, DEVELOPMENTAL DELAY, AND BRITTLE HAIR SYNDROME; MDBH
HP:0012043HP:0012043Pendular nystagmus0CLTCL1 CL E G H82182093ORPHA:453510Congenital insensitivity to pain with severe intellectual disability6
HP:0012043HP:0012043Pendular nystagmus0CNGA3 CL E G H12612150ORPHA:49382AchromatopsiaHP:0040281 - Very frequent82
HP:0012043HP:0012043Pendular nystagmus0CNGA3 CL E G H12612150OMIM:216900Achromatopsia 282
HP:0012043HP:0012043Pendular nystagmus0CNGB3 CL E G H547142153ORPHA:49382AchromatopsiaHP:0040281 - Very frequent194
HP:0012043HP:0012043Pendular nystagmus0CNGB3 CL E G H547142153OMIM:262300Achromatopsia 3194
HP:0012043HP:0012043Pendular nystagmus0CNNM4 CL E G H26504105OMIM:217080Jalili syndrome61
HP:0012043HP:0012043Pendular nystagmus0CRX CL E G H14062383OMIM:613829Leber congenital amaurosis 7.158
HP:0012043HP:0012043Pendular nystagmus0DLAT CL E G H17372896OMIM:245348Pyruvate dehydrogenase E2 deficiency82
HP:0012043HP:0012043Pendular nystagmus0DNMBP CL E G H2326830373OMIM:618415Cataract 48.
HP:0012043HP:0012043Pendular nystagmus0FRMD7 CL E G H901678079OMIM:310700Nystagmus 1, congenital, X-linked.38
HP:0012043HP:0012043Pendular nystagmus0GFAP CL E G H26704235OMIM:203450Alexander disease188
HP:0012043HP:0012043Pendular nystagmus0GNAT2 CL E G H27804394ORPHA:49382AchromatopsiaHP:0040281 - Very frequent19
HP:0012043HP:0012043Pendular nystagmus0HMGB3 CL E G H31495004OMIM:300915Microphthalmia, syndromic 13.2
HP:0012043HP:0012043Pendular nystagmus0LRP5 CL E G H40416697OMIM:601813Exudative vitreoretinopathy 4125
HP:0012043HP:0012043Pendular nystagmus0NT5C2 CL E G H229788022ORPHA:320396Autosomal recessive spastic paraplegia type 45HP:0040282 - Frequent15
HP:0012043HP:0012043Pendular nystagmus0NUP62 CL E G H236368066ORPHA:225154Familial infantile bilateral striatal necrosis7
HP:0012043HP:0012043Pendular nystagmus0NUP62 CL E G H236368066OMIM:271930Striatonigral degeneration, infantile.7
HP:0012043HP:0012043Pendular nystagmus0OPN1LW CL E G H59569936OMIM:303700Blue cone monochromacy.7
HP:0012043HP:0012043Pendular nystagmus0OPN1MW CL E G H26524206OMIM:303700Blue cone monochromacy.5
HP:0012043HP:0012043Pendular nystagmus0OPN1SW CL E G H6111012ORPHA:88629TritanopiaHP:0040283 - Occasional3
HP:0012043HP:0012043Pendular nystagmus0P4HTM CL E G H5468128858OMIM:618493Hypotonia, hypoventilation, impaired intellectual development, dysautonomia, epilepsy, and eye abnormalities
HP:0012043HP:0012043Pendular nystagmus0PDE6C CL E G H51468787ORPHA:49382AchromatopsiaHP:0040281 - Very frequent80
HP:0012043HP:0012043Pendular nystagmus0PDE6H CL E G H51498790ORPHA:49382AchromatopsiaHP:0040281 - Very frequent14
HP:0012043HP:0012043Pendular nystagmus0PLA2G6 CL E G H83989039ORPHA:35069Infantile neuroaxonal dystrophyHP:0040283 - Occasional133
HP:0012043HP:0012043Pendular nystagmus0PLP1 CL E G H53549086ORPHA:280210Pelizaeus-Merzbacher disease, connatal formHP:0040282 - Frequent60
HP:0012043HP:0012043Pendular nystagmus0PRRT2 CL E G H11247630500ORPHA:569Familial or sporadic hemiplegic migraine94
HP:0012043HP:0012043Pendular nystagmus0RPGR CL E G H610310295ORPHA:49382AchromatopsiaHP:0040281 - Very frequent200
HP:0012043HP:0012043Pendular nystagmus0RPGRIP1 CL E G H5709613436OMIM:613826Leber congenital amaurosis 6.109
HP:0012043HP:0012043Pendular nystagmus0SCN1A CL E G H632310585OMIM:619317DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 6B; DEE6B1053
HP:0012043HP:0012043Pendular nystagmus0SCN1A CL E G H632310585ORPHA:569Familial or sporadic hemiplegic migraine1053
HP:0012043HP:0012043Pendular nystagmus0SDHD CL E G H639210683OMIM:619167MITOCHONDRIAL COMPLEX II DEFICIENCY, NUCLEAR TYPE 3; MC2DN3129
HP:0012043HP:0012043Pendular nystagmus0TBL1XR1 CL E G H7971829529OMIM:602342Pierpont syndrome.22
HP:0012043HP:0012043Pendular nystagmus0TBL1XR1 CL E G H7971829529ORPHA:487825Pierpont syndromeHP:0040283 - Occasional22
HP:0012043HP:0012043Pendular nystagmus0TENM3 CL E G H5571429944OMIM:615145Microphthalmia, isolated, with coloboma 9.12
HP:0012043HP:0012043Pendular nystagmus0TMEM106B CL E G H5466422407OMIM:617964Leukodystrophy, hypomyelinating, 16
HP:0012043HP:0012043Pendular nystagmus0TMEM231 CL E G H7958337234ORPHA:2752Orofaciodigital syndrome type 333
HP:0012043HP:0012043Pendular nystagmus0TMEM63A CL E G H972529118OMIM:618688LEUKODYSTROPHY, HYPOMYELINATING, 19, TRANSIENT INFANTILE; HLD19
HP:0012043HP:0007811Horizontal pendular nystagmus1ADAR CL E G H103225ORPHA:225154Familial infantile bilateral striatal necrosisHP:0040282 - Frequent116
HP:0012043HP:0007811Horizontal pendular nystagmus1ARHGEF2 CL E G H9181682OMIM:617523Neurodevelopmental disorder with midbrain and hindbrain malformations1
HP:0012043HP:0012044Seesaw nystagmus1ATP1A2 CL E G H477800ORPHA:569Familial or sporadic hemiplegic migraineHP:0040283 - Occasional239
HP:0012043HP:0007811Horizontal pendular nystagmus1ATP6 CL E G H45087414ORPHA:225154Familial infantile bilateral striatal necrosisHP:0040282 - Frequent
HP:0012043HP:0012044Seesaw nystagmus1CACNA1A CL E G H7731388ORPHA:569Familial or sporadic hemiplegic migraineHP:0040283 - Occasional449
HP:0012043HP:0012044Seesaw nystagmus1CLTCL1 CL E G H82182093ORPHA:453510Congenital insensitivity to pain with severe intellectual disabilityHP:0040283 - Occasional6
HP:0012043HP:0007811Horizontal pendular nystagmus1CNGB3 CL E G H547142153OMIM:262300Achromatopsia 3.194
HP:0012043HP:0007811Horizontal pendular nystagmus1LRP5 CL E G H40416697OMIM:601813Exudative vitreoretinopathy 4.125
HP:0012043HP:0007811Horizontal pendular nystagmus1NUP62 CL E G H236368066ORPHA:225154Familial infantile bilateral striatal necrosisHP:0040282 - Frequent7
HP:0012043HP:0012044Seesaw nystagmus1PRRT2 CL E G H11247630500ORPHA:569Familial or sporadic hemiplegic migraineHP:0040283 - Occasional94
HP:0012043HP:0010533Spasmus nutans1SCN1A CL E G H632310585OMIM:619317DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 6B; DEE6B1053
HP:0012043HP:0012044Seesaw nystagmus1SCN1A CL E G H632310585ORPHA:569Familial or sporadic hemiplegic migraineHP:0040283 - Occasional1053
HP:0012043HP:0007811Horizontal pendular nystagmus1TMEM106B CL E G H5466422407OMIM:617964Leukodystrophy, hypomyelinating, 16
HP:0012043HP:0012044Seesaw nystagmus1TMEM231 CL E G H7958337234ORPHA:2752Orofaciodigital syndrome type 3HP:0040283 - Occasional33


Genes (41) :ADAR AIPL1 ARHGEF2 ATF6 ATOH7 ATP1A2 ATP6 CACNA1A CARS1 CLTCL1 CNGA3 CNGB3 CNNM4 CRX DLAT DNMBP FRMD7 GFAP GNAT2 HMGB3 LRP5 NT5C2 NUP62 OPN1LW OPN1MW OPN1SW P4HTM PDE6C PDE6H PLA2G6 PLP1 PRRT2 RPGR RPGRIP1 SCN1A SDHD TBL1XR1 TENM3 TMEM106B TMEM231 TMEM63A

Diseases (34) :ORPHA:225154 OMIM:604393 OMIM:617523 ORPHA:49382 OMIM:221900 ORPHA:569 OMIM:618891 ORPHA:453510 OMIM:216900 OMIM:262300 OMIM:217080 OMIM:613829 OMIM:245348 OMIM:618415 OMIM:310700 OMIM:203450 OMIM:300915 OMIM:601813 ORPHA:320396 OMIM:271930 OMIM:303700 ORPHA:88629 OMIM:618493 ORPHA:35069 ORPHA:280210 OMIM:613826 OMIM:619317 OMIM:619167 OMIM:602342 ORPHA:487825 OMIM:615145 OMIM:617964 ORPHA:2752 OMIM:618688
 

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