Eye or vision problem

There are several ocular problems concerning the eye or vision problem. - ocular apraxia (difficulty following objects across visual field) - oculomotor apraxia (people have to turn their head to see things in their side (peripheral vision) - involuntary jerking movements (chorea)

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OMIM ID NAME PROTEINS TYPE ALIASES ABBREVIATIONS PATHWAY(S) RELATED
277700 Werner syndrome (WRN) RECQL2 (WRN) premature aging, risk of malignant disease, chromosomal instability, eye or vision problem Werner WRN
606002 ataxia-oculomotor apraxia 2 (AOA2/SCAR1) SETX neurodegenerative disease, mental retardation (MR), psychomotor impairment, skeletal abnormalities, eye or vision problem spinocerebellar ataxia autosomal recessive type 1 AOA2
SCAR1
613077 progressive external ophthalmoplegia, autosomal dominant, with mitochondrial DNA deletions 5 (PEOA5) RRM2B neurodegenerative disease, eye or vision problem progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant PEOA5 modulation of nucleotide pools
208900 ataxia-telangiectasia (AT) ATM neurodegenerative disease, blood cell cancer, psychomotor impairment, skeletal abnormalities, risk of malignant disease, chromosomal instability, immunodeficiency, sexual immaturity, sensitivity to radiation, CANCER, eye or vision problem Louis-Bar syndrome
AT, COMPLEMENTATION GROUP A, INCLUDED; ATA, INCLUDED
Boder-Sedgwick syndrome
AT
AT1
DNA damage response (DDR)
216400 Cockayne syndrome, TYPE A ERCC8 (CSA) neurodegenerative disease, mental retardation (MR), premature aging, skeletal abnormalities, sensitivity to radiation, NO CANCER development, eye or vision problem Weber-Cockayne syndrome
Neill-Dingwall Syndrome
CSA nucleotide excision repair (NER)
214150 cerebro-oculo-facio-skeletal syndrome type 1 (COFS1) ERCC6 (CSB) mental retardation (MR), psychomotor impairment, skeletal abnormalities, eye or vision problem, facial anomalies, growth retardation, cerebro-oculo-facio-skeletal-syndrome (COFS) COFS syndrome 1
Pena-Shokeir syndrome type 2
COFS1 nucleotide excision repair (NER)
613761 age-related macular degeneration type 5 (ARMD5) ERCC6 (CSB) eye or vision problem ARMD5 nucleotide excision repair (NER)
157640 progressive external ophthalmoplegia, autosomal dominant 1 (PEOA1) POLγ (POLG) neurodegenerative disease, eye or vision problem progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 1 PEOA1 DNA replication
613662 mitochondrial DNA depletion syndrome 4B (MNGIE type) MTDPS4B POLγ (POLG) psychomotor impairment, eye or vision problem mitochondrial DNA depletion syndrome type 4A
mitochondrial DNA depletion syndrome 4B MNGIE type or mitochondrial neurogastrointestinal encephalopathy syndrome POLG-related
DNA replication
607459 mitochondrial recessive ataxia syndrome (includes SANDO and SCAE) POLγ (POLG) psychomotor impairment, neurodegenerative disease, eye or vision problem sensory ataxic neuropathy dysarthria and ophthalmoparesis SANDO
SCAE
DNA replication
612075 mitochondrial DNA depletion syndrome 8B (MNGIE type) RRM2B neurodegenerative disease, eye or vision problem, mental retardation (MR) MTDP8B
MNGIE type
modulation of nucleotide pools
208920 early-onset ataxia with ocular motor apraxia and hypoalbuminemia/ataxia with oculomotor apraxia 1 (EAOH/AOA1) APTX neurodegenerative disease, psychomotor impairment, NO CANCER development, eye or vision problem, immunodeficiency ATAXIA EARLY-ONSET WITH OCULOMOTOR APRAXIA AND HYPOALBUMINEMIA
ataxia-oculomotor apraxia 1
EAOH
AOA
AOA1

EOCA-HA
EAOH/AOA1
133540 Cockayne syndrome, TYPE B (CSB) ERCC6 (CSB) microcephaly, mental retardation (MR), psychomotor impairment, sensitivity to radiation, NO CANCER development, eye or vision problem, cerebro-oculo-facio-skeletal-syndrome (COFS) CSB syndrome CSB nucleotide excision repair (NER)
610758 cerebro-oculo-facio-skeletal syndrome 4 (COFS4) ERCC1 microcephaly, neurodegenerative disease, mental retardation (MR), skeletal abnormalities, eye or vision problem, facial anomalies, growth retardation, cerebro-oculo-facio-skeletal-syndrome (COFS) COFS4 syndrome COFS4 Fanconi anemia (FA) pathway, nucleotide excision repair (NER)
607136 spinocerebellar ataxia type 17 (SCA17) TBP psychomotor impairment, eye or vision problem cerebellar ataxia 17 SCA17 transcription factors
610756 cerebro-oculo-facio-skeletal syndrome type 2 (COFS2) ERCC2 (XPD) neurodegenerative disease, eye or vision problem, facial anomalies, growth retardation, cerebro-oculo-facio-skeletal-syndrome (COFS) COFS2 syndrome COFS2 nucleotide excision repair (NER), transcription factors
xxx8 cerebro-oculo-facio-skeletal syndrome 3 (COFS3) ERCC5 (XPG) microcephaly, neurodegenerative disease, mental retardation (MR), skeletal abnormalities, eye or vision problem, facial anomalies, growth retardation, cerebro-oculo-facio-skeletal-syndrome (COFS) COFS3 syndrome COFS3 nucleotide excision repair (NER)
610131 progressive external ophthalmoplegia with mitochondrial DNA deletions autosomal dominant type 4 (PEOA4) POLG2 deafness (hearing impairment), eye or vision problem PEOA4 DNA replication

Last modification date: July 2, 2011