Disease Browser
Parent Node: Mitochondrial Myopathies (D017240) Parent Node: Ophthalmoplegia (D009886) ..Starting node .. Ophthalmoplegia, Chronic Progressive External (D017246) Child Nodes:
........Gaze Palsy, Familial Horizontal, with Progressive Scoliosis (C564593) ........Kearns-Sayre Syndrome (D007625) 1 L: 00143 ; ........Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 2 (C563750) L: 00047 ; ........Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 3 (C563747) L: 00074 ; ........Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 4 (C566437) L: 00048 ; ........Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant, 5 (C567768) L: 00049 ; Sister Nodes: ..Adenine Nucleotide Translocator Deficiency (C566309) ..ARTHROGRYPOSIS, PERTHES DISEASE, AND UPWARD GAZE PALSY (OMIM:614262) ..CANOMAD syndrome (C537980) ..Congenital Fibrosis of the Extraocular Muscles (C580012) ..External Ophthalmoplegia, Synergistic Divergence, Jaw Winking, and Oculocutaneous Hypopigmentation (C566509) ..Fibrosis Of Extraocular Muscles, Congenital, 2 (C566587) ..Hamano Tsukamoto syndrome (C535625) ..Inclusion Body Myopathy 3, Autosomal Dominant (C565311) ..Inclusion body myopathy, autosomal dominant (C538330) ..Minicore Myopathy with External Ophthalmoplegia (C564969) ..Motor Neuron Disease with Dementia and Ophthalmoplegia (C563954) ..Ocular Myopathy with Curare Sensitivity (C564937) ..Oculomelic amyoplasia (C537737) ..Oculootoradial syndrome (C535544) ..Ophthalmoplegia Totalis with Ptosis and Miosis (C564927) ..Ophthalmoplegia, Chronic Progressive External (D017246) 7 C:5 ..Ophthalmoplegia, External, and Myopia (C564087) ..Ophthalmoplegia, Familial Static (C563500) ..Ophthalmoplegia, Familial Total, with Iris Transillumination (C563499) ..Ophthalmoplegia, Progressive, with Scrotal Tongue and Mental Deficiency (C563498) ..Ophthalmoplegic Migraine (D060486) ..Ophthalmoplegic Neuromuscular Disorder with Abnormal Mitochondria (C564925) ..Optic Atrophy, Deafness, Ophthalmoplegia, and Myopathy (C565117) ..Progressive External Ophthalmoplegia With Hypogonadism (C563576) ..PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 6 (OMIM:615156) L: 00050 ; ..Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 1 (C563575) L: 00117 ; ..Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Recessive (C564926) L: 00118 ; ..PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 2 (OMIM:616479) L: 00534 ; ..PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 3 (OMIM:617069) L: 00510 ; ..PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 4 (OMIM:617070) L: 00535 ; ..Schimke X-linked mental retardation syndrome (C536630) ..Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis (C537583) L: 00042 ; ..Supranuclear Palsy, Progressive (D013494) 5 ..Treft Sanborn Carey syndrome (C536544) ..Wieacker syndrome (C536703) Human Disease MESH is developed by UMLS . Further data from MedGen , OMIM ,ClinVar , CTD
Term ID: 9119
Name: Ophthalmoplegia, Chronic Progressive External
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)
Alternative IDs: DO:DOID:12558
ParentIDs: MESH:D009886|MESH:D017240
TreeNumbers: C05.651.460.700 |C10.292.562.750.250 |C10.597.622.447.511 |C10.668.491.500.700 |C11.590.472.250 |C18.452.660.560.700 |C23.888.592.636.447.511
Synonyms: Chronic Progressive External Ophthalmoplegia |CPEO |Disease, Graefe |Dystrophy, Ocular Muscular |External Ophthalmoplegia, Progressive |Graefe Disease |Graefe's Disease |Mitochondrial Ocular Myopathy |Muscular Dystrophies, Ocular |Muscular Dystrophy, Ocular |Myopa
Slim Mappings: Eye disease|Metabolic disease|Musculoskeletal disease|Nervous system disease|Signs and symptoms
Reference:
MedGen: D017246
MeSH: D017246
OMIM: MSeqDR : MSeqDR has 5 matches in descendants: 00047 ; 00048 ; 00049 ; 00074 ; 00143 ; Genes: Phenotypes Disease Causing ClinVar Variants MSeqDR Portal