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	chronic progressive external ophthalmoplegia

Disease ID	743
Disease	chronic progressive external ophthalmoplegia
Definition	A mitochondrial myopathy characterized by slowly progressive paralysis of the levator palpebrae, orbicularis oculi, and extraocular muscles. Ragged-red fibers and atrophy are found on muscle biopsy. Familial and sporadic forms may occur. Disease onset is usually in the first or second decade of life, and the illness slowly progresses until usually all ocular motility is lost. (From Adams et al., Principles of Neurology, 6th ed, p1422)
Synonym	chronic progressive external ophthalmoplegia (cpeo) chronic progressive external ophthalmoplegia (disorder) chronic progressive external ophthalmoplegia [ambiguous] chronic progressive ophthalmoplegia chronic progressive paralysis of the external eye muscle cpeo cpeo - chronic progressive external ophthalmoplegia disease, graefe dystrophy, ocular muscular external ophthalmoplegia, progressive external ophthalmoplegia, progressive (peo) graefe dis graefe disease graefe's disease muscular dystrophies, ocular muscular dystrophy, ocular myopathy, mitochondrial ocular ocular muscular dystrophies ocular muscular dystrophy ocular myopathy of von graefe fuchs ocular myopathy of von graefe-fuchs ocular myopathy, mitochondrial ophthalmoplegia, chronic progressive external ophthalmoplegia, chronic progressive external [disease/finding] ophthalmoplegia, progressive external peo - progressive external ophthalmoplegia prog ext ophthalmoplegia progressive external ophthalmoplegia progressive external ophthalmoplegia (disorder) progressive paralysis or weakness of muscles of eye motility progressive paralysis or weakness of muscles of eye movement
DOID	DOID:12558
UMLS	C0162674
MeSH	D017246
SNOMED-CT	SNOMEDCT_US_2016_09_01:46252003
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:15) C0026848 \| myopathy \| 3 C1145670 \| respiratory failure \| 1 C0004134 \| ataxia \| 1 C0038379 \| strabismus \| 1 C0035229 \| respiratory insufficiency \| 1 C0027121 \| inflammatory myopathy \| 1 C0037317 \| sleep disturbances \| 1 C0085084 \| motor neuron disease \| 1 C0442874 \| neuropathy \| 1 C0029132 \| optic neuropathy \| 1 C0015300 \| exophthalmos \| 1 C0162670 \| mitochondrial myopathy \| 1 C0037317 \| sleep disturbance \| 1 C0005745 \| ptosis \| 1 C0026769 \| multiple sclerosis \| 1
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:13) 3553 \| IL1B \| CTD_human 3552 \| IL1A \| CTD_human 6647 \| SOD1 \| CTD_human 6648 \| SOD2 \| CTD_human 246243 \| RNASEH1 \| UniProtKB-KW 1763 \| DNA2 \| UniProtKB-KW 5428 \| POLG \| CTD_human;GHR;UNIPROT;UniProtKB-KW 7084 \| TK2 \| UniProtKB-KW 1716 \| DGUOK \| UniProtKB-KW 291 \| SLC25A4 \| GHR;UNIPROT;UniProtKB-KW 11232 \| POLG2 \| UniProtKB-KW;UNIPROT 50484 \| RRM2B \| UniProtKB-KW 1890 \| TYMP \| UniProtKB-KW
Inferring Gene	Entrez_id \| Symbol \| Resource(Total Genes:7) 5428 \| POLG \| CIPHER;CTD_human 11232 \| POLG2 \| CIPHER 291 \| SLC25A4 \| CIPHER 3553 \| IL1B \| CTD_human 6647 \| SOD1 \| CTD_human 6648 \| SOD2 \| CTD_human 3552 \| IL1A \| CTD_human
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:64) 6314 \| ATXN7 \| 1.036 \| DISEASES 7809 \| BSND \| 1.677 \| DISEASES 1122 \| CHML \| 2.411 \| DISEASES 1188 \| CLCNKB \| 1.426 \| DISEASES 1282 \| COL4A1 \| 1.154 \| DISEASES 1431 \| CS \| 2.252 \| DISEASES 1763 \| DNA2 \| 3.404 \| DISEASES 1798 \| DPAGT1 \| 1.173 \| DISEASES 6993 \| DYNLT1 \| 1.428 \| DISEASES 1915 \| EEF1A1 \| 1.226 \| DISEASES 10209 \| EIF1 \| 2.513 \| DISEASES 63901 \| FAM111A \| 2.992 \| DISEASES 2203 \| FBP1 \| 2.009 \| DISEASES 2303 \| FOXC2 \| 2.174 \| DISEASES 3736 \| KCNA1 \| 1.333 \| DISEASES 3766 \| KCNJ10 \| 1.252 \| DISEASES 55605 \| KIF21A \| 1.662 \| DISEASES 92399 \| MRRF \| 3.411 \| DISEASES 4508 \| MT-ATP6 \| 3.558 \| DISEASES 4509 \| MT-ATP8 \| 2.842 \| DISEASES 4512 \| MT-CO1 \| 2.691 \| DISEASES 4513 \| MT-CO2 \| 1.206 \| DISEASES 4514 \| MT-CO3 \| 1.999 \| DISEASES 4519 \| MT-CYB \| 3.918 \| DISEASES 4537 \| MT-ND3 \| 2.539 \| DISEASES 4538 \| MT-ND4 \| 4.433 \| DISEASES 4539 \| MT-ND4L \| 3.227 \| DISEASES 4540 \| MT-ND5 \| 4.392 \| DISEASES 4541 \| MT-ND6 \| 3.329 \| DISEASES 4549 \| MT-RNR1 \| 2.86 \| DISEASES 4553 \| MT-TA \| 3.473 \| DISEASES 4555 \| MT-TD \| 2.782 \| DISEASES 4556 \| MT-TE \| 3.158 \| DISEASES 4564 \| MT-TH \| 2.678 \| DISEASES 4565 \| MT-TI \| 5.169 \| DISEASES 4566 \| MT-TK \| 6.684 \| DISEASES 4567 \| MT-TL1 \| 3.598 \| DISEASES 4568 \| MT-TL2 \| 2.902 \| DISEASES 4570 \| MT-TN \| 3.538 \| DISEASES 4574 \| MT-TS1 \| 3.368 \| DISEASES 4578 \| MT-TW \| 2.594 \| DISEASES 5071 \| PARK2 \| 1.224 \| DISEASES 9141 \| PDCD5 \| 1.789 \| DISEASES 5830 \| PEX5 \| 1.016 \| DISEASES 65018 \| PINK1 \| 1.44 \| DISEASES 29944 \| PNMA3 \| 2.224 \| DISEASES 11232 \| POLG2 \| 6.214 \| DISEASES 11201 \| POLI \| 2.094 \| DISEASES 5764 \| PTN \| 1.013 \| DISEASES 26278 \| SACS \| 1.362 \| DISEASES 54938 \| SARS2 \| 1.659 \| DISEASES 292 \| SLC25A5 \| 1.836 \| DISEASES 293 \| SLC25A6 \| 1.924 \| DISEASES 6541 \| SLC7A1 \| 1.277 \| DISEASES 4093 \| SMAD9 \| 2.071 \| DISEASES 6683 \| SPAST \| 1.037 \| DISEASES 8803 \| SUCLA2 \| 3.468 \| DISEASES 8802 \| SUCLG1 \| 1.91 \| DISEASES 6905 \| TBCE \| 1.526 \| DISEASES 54790 \| TET2 \| 1.33 \| DISEASES 7019 \| TFAM \| 2.37 \| DISEASES 7084 \| TK2 \| 3.918 \| DISEASES 140803 \| TRPM6 \| 1.721 \| DISEASES 23038 \| WDTC1 \| 2.36 \| DISEASES
Locus	(Waiting for update.)

Disease ID	743
Disease	chronic progressive external ophthalmoplegia
Integrated Phenotype	(Waiting for update.)
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:16) HP:0003689 \| Multiple mtDNA deletions \| 7 HP:0003198 \| Myopathic changes \| 3 HP:0100022 \| Movement disorder \| 1 HP:0002878 \| Respiratory failure \| 1 HP:0001298 \| Encephalopathy \| 1 HP:0000486 \| Squint eyes \| 1 HP:0000520 \| Anterior bulging of the globe of eye \| 1 HP:0000508 \| Drooping upper eyelid \| 1 HP:0003737 \| Mitochondrial myopathy \| 1 HP:0001300 \| Parkinsonism \| 1 HP:0002273 \| Tetraparesis \| 1 HP:0001251 \| Ataxia \| 1 HP:0009071 \| Inflammatory myopathy \| 1 HP:0002360 \| Sleep disturbance \| 1 HP:0003756 \| Skeletal myopathy \| 1 HP:0001138 \| Damaged optic nerve \| 1

Disease ID	743
Disease	chronic progressive external ophthalmoplegia
Manually Symptom	UMLS \| Name(Total Manually Symptoms:10) C2364118 \| weakness C2029884 \| hearing loss C2020541 \| strabismus C1801950 \| g syndrome C0234665 \| lid retraction C0033377 \| ptosis C0028850 \| eye movement disorders C0024440 \| cystoid macular edema C0018784 \| sensorineural hearing loss C0012569 \| diplopia
Text Mined Symptom	UMLS \| Name \| Sentences' Count(Total Symptoms:4) C0005745 \| ptosis \| 1 C0038379 \| strabismus \| 1 C0028850 \| eye movement disorders \| 1 C0162670 \| mitochondrial myopathy \| 1

Manually Genotype(Total Text Mining Genotypes:0)
(Waiting for update.)

Text Mining Genotype(Total Genotypes:0)
(Waiting for update.)

All Snps(Total Genotypes:4)
snpId	pubmedId	geneId	geneSymbol	diseaseId	sourceId	sentence	score	Year	geneSymbol_dbSNP	CHROMOSOME	POS	REF	ALT
rs113994099	17725985	5428	POLG	umls:C0162674	BeFree	The Y955C substitution in POLG leads to autosomal dominant progressive external ophthalmoplegia (PEO) with other severe phenotypes.	0.158406295	2007	POLG	15	89320883	T	C
rs17850455	18195150	56652	C10orf2	umls:C0162674	BeFree	The results of screening for mutations in the nuclear genes associated with PEO and multiple mitochondrial DNA deletions, including those in POLG (polymerase gamma gene), ANT1 (gene encoding adenine nucleotide translocator 1), and PEO1, were negative, but sequencing of POLG2 revealed a G1247C mutation in exon 7, resulting in the substitution of a highly conserved glycine with an alanine at codon 416 (G416A).	0.01596892	2008	POLG2	17	64480334	C	G
rs17850455	18195150	291	SLC25A4	umls:C0162674	BeFree	The results of screening for mutations in the nuclear genes associated with PEO and multiple mitochondrial DNA deletions, including those in POLG (polymerase gamma gene), ANT1 (gene encoding adenine nucleotide translocator 1), and PEO1, were negative, but sequencing of POLG2 revealed a G1247C mutation in exon 7, resulting in the substitution of a highly conserved glycine with an alanine at codon 416 (G416A).	0.013525943	2008	POLG2	17	64480334	C	G
rs17850455	18195150	24148	PRPF6	umls:C0162674	BeFree	The results of screening for mutations in the nuclear genes associated with PEO and multiple mitochondrial DNA deletions, including those in POLG (polymerase gamma gene), ANT1 (gene encoding adenine nucleotide translocator 1), and PEO1, were negative, but sequencing of POLG2 revealed a G1247C mutation in exon 7, resulting in the substitution of a highly conserved glycine with an alanine at codon 416 (G416A).	0.001900093	2008	POLG2	17	64480334	C	G

GWASdb Annotation(Total Genotypes:0)
(Waiting for update.)

GWASdb Snp Trait(Total Genotypes:0)
(Waiting for update.)

Mapped by lexical matching(Total Items:0)
(Waiting for update.)

Mapped by homologous gene(Total Items:0)
(Waiting for update.)

Disease ID	743
Disease	chronic progressive external ophthalmoplegia
Case	(Waiting for update.)

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