Term ID: |
1583 |
Name: |
Rotary nystagmus |
Synonym: |
Rotatory Nystagmus |
Definition: |
A form of nystagmus in which the eyeball makes rotary motions around the axis. |
Comments: |
|
Reference: |
HP:0001583 |
Genes and Diseases: | |
Child Nodes: |
Sister Nodes: |
..Congenital nystagmus (HP:0006934)
|
..Divergence nystagmus (HP:0030691)
|
..Gaze-evoked nystagmus (HP:0000640)
|
..Horizontal nystagmus (HP:0000666)
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..Nystagmus-induced head nodding (HP:0001361)
|
..Pendular nystagmus (HP:0012043)
|
..Vertical nystagmus (HP:0010544)
|
..Vestibular nystagmus (HP:0010542)
|
Input | HPO ID | HPO term | Distance | Gene | Gene id entrez | HGNC ID | DiseaseId | DiseaseName | Frequency | Onset | HGMD variants | ClinVar variants |
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HPO disease - gene - phenotype typical associations: | HPO disease - gene - phenotype less frequent non-typical associations: | HP:0001583 | HP:0001583 | Rotary nystagmus | 0 | ACBD5 CL E G H | 91452 | 23338 | OMIM:618863 | RETINAL DYSTROPHY WITH LEUKODYSTROPHY; RDLKD | | | | 1 | | | HP:0001583 | HP:0001583 | Rotary nystagmus | 0 | ALX4 CL E G H | 60529 | 450 | OMIM:613451 | Frontonasal dysplasia 2 | | | | 132 | | | HP:0001583 | HP:0001583 | Rotary nystagmus | 0 | CLN3 CL E G H | 1201 | 2074 | ORPHA:228346 | CLN3 disease | | | | 216 | | | HP:0001583 | HP:0001583 | Rotary nystagmus | 0 | ELOVL1 CL E G H | 64834 | 14418 | OMIM:618527 | Ichthyotic keratoderma, spasticity, hypomyelination, and dysmorphic facial features | | | | | | | HP:0001583 | HP:0001583 | Rotary nystagmus | 0 | ERLIN2 CL E G H | 11160 | 1356 | ORPHA:209951 | Autosomal recessive spastic paraplegia type 18 | HP:0040283 - Occasional | | | 18 | | | HP:0001583 | HP:0001583 | Rotary nystagmus | 0 | GFER CL E G H | 2671 | 4236 | ORPHA:330054 | Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome | HP:0040282 - Frequent | | | 14 | | | HP:0001583 | HP:0001583 | Rotary nystagmus | 0 | GJC2 CL E G H | 57165 | 17494 | OMIM:608804 | Leukodystrophy, hypomyelinating, 2 | . | | | 37 | | | HP:0001583 | HP:0001583 | Rotary nystagmus | 0 | KCNN2 CL E G H | 3781 | 6291 | OMIM:619724 | DYSTONIA 34, MYOCLONIC; DYT34 | | | | | | | HP:0001583 | HP:0001583 | Rotary nystagmus | 0 | LYST CL E G H | 1130 | 1968 | ORPHA:167 | Chédiak-Higashi syndrome | HP:0040282 - Frequent | | | 239 | | | HP:0001583 | HP:0001583 | Rotary nystagmus | 0 | MKS1 CL E G H | 54903 | 7121 | OMIM:249000 | Meckel syndrome 1 | | | | 127 | | | HP:0001583 | HP:0001583 | Rotary nystagmus | 0 | MPC1 CL E G H | 51660 | 21606 | OMIM:614741 | Mitochondrial pyruvate carrier deficiency | HP:0040283 - Occasional | | | 6 | | | HP:0001583 | HP:0001583 | Rotary nystagmus | 0 | NPHP4 CL E G H | 261734 | 19104 | OMIM:606996 | Senior-Loken syndrome 4 | . | | | 220 | | | HP:0001583 | HP:0001583 | Rotary nystagmus | 0 | PLP1 CL E G H | 5354 | 9086 | OMIM:312080 | Pelizaeus-Merzbacher disease | . | | | 60 | | | HP:0001583 | HP:0001583 | Rotary nystagmus | 0 | PNPO CL E G H | 55163 | 30260 | OMIM:610090 | Pyridoxamine 5-prime-phosphate oxidase deficiency | | | | 92 | | | HP:0001583 | HP:0001583 | Rotary nystagmus | 0 | PPP1R21 CL E G H | 129285 | 30595 | OMIM:619383 | NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, FACIAL DYSMORPHISM, AND BRAIN ABNORMALITIES; NEDHFBA | | | | | | | HP:0001583 | HP:0001583 | Rotary nystagmus | 0 | PPP2R5D CL E G H | 5528 | 9312 | ORPHA:457279 | Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome | HP:0040284 - Very rare | | | 10 | | | HP:0001583 | HP:0001583 | Rotary nystagmus | 0 | SLC16A2 CL E G H | 6567 | 10923 | OMIM:300523 | Allan-Herndon-Dudley syndrome | HP:0040283 - Occasional | | | 57 | | | HP:0001583 | HP:0001583 | Rotary nystagmus | 0 | TELO2 CL E G H | 9894 | 29099 | ORPHA:488642 | TELO2-related intellectual disability-neurodevelopmental disorder | HP:0040283 - Occasional | | | 12 | | | HP:0001583 | HP:0001583 | Rotary nystagmus | 0 | TMEM106B CL E G H | 54664 | 22407 | OMIM:617964 | Leukodystrophy, hypomyelinating, 16 | | | | | | | HP:0001583 | HP:0001583 | Rotary nystagmus | 0 | TMEM216 CL E G H | 51259 | 25018 | OMIM:608091 | Joubert syndrome 2 | | | | 45 | | |
Genes (20) :ACBD5 ALX4 CLN3 ELOVL1 ERLIN2 GFER GJC2 KCNN2 LYST MKS1 MPC1 NPHP4 PLP1 PNPO PPP1R21 PPP2R5D SLC16A2 TELO2 TMEM106B TMEM216
Diseases (20) :OMIM:618863 OMIM:613451 ORPHA:228346 OMIM:618527 ORPHA:209951 ORPHA:330054 OMIM:608804 OMIM:619724 ORPHA:167 OMIM:249000 OMIM:614741 OMIM:606996 OMIM:312080 OMIM:610090 OMIM:619383 ORPHA:457279 OMIM:300523 ORPHA:488642 OMIM:617964 OMIM:608091 |
Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.
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