MSeqDR Mitochondrial Disease Portal


 
*:HP: HPO terms, UMDF: 1= Disease, ND: NAMDC terms.
  Most Studied  CPEO, Complex I Deficiency, COXPD1, Leigh, LHON, MELAS, MERRF, Myopathy, SANDO
Disease Browser
Parent Node:
expandMitochondrial Myopathies (D017240)
Parent Node:
expandOphthalmoplegia (D009886)
..Starting node
..expandOphthalmoplegia, Chronic Progressive External (D017246)

       Child Nodes:
........expandGaze Palsy, Familial Horizontal, with Progressive Scoliosis (C564593)
........expandKearns-Sayre Syndrome (D007625) Child1  LSDB  L: 00143;
........expandProgressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 2 (C563750)  LSDB  L: 00047;
........expandProgressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 3 (C563747)  LSDB  L: 00074;
........expandProgressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 4 (C566437)  LSDB  L: 00048;
........expandProgressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant, 5 (C567768)  LSDB  L: 00049;



 Sister Nodes: 
..expandAdenine Nucleotide Translocator Deficiency (C566309)
..expandARTHROGRYPOSIS, PERTHES DISEASE, AND UPWARD GAZE PALSY (OMIM:614262)
..expandCANOMAD syndrome (C537980)
..expandCongenital Fibrosis of the Extraocular Muscles (C580012)
..expandExternal Ophthalmoplegia, Synergistic Divergence, Jaw Winking, and Oculocutaneous Hypopigmentation (C566509)
..expandFibrosis Of Extraocular Muscles, Congenital, 2 (C566587)
..expandHamano Tsukamoto syndrome (C535625)
..expandInclusion Body Myopathy 3, Autosomal Dominant (C565311)
..expandInclusion body myopathy, autosomal dominant (C538330)
..expandMinicore Myopathy with External Ophthalmoplegia (C564969)
..expandMotor Neuron Disease with Dementia and Ophthalmoplegia (C563954)
..expandOcular Myopathy with Curare Sensitivity (C564937)
..expandOculomelic amyoplasia (C537737)
..expandOculootoradial syndrome (C535544)
..expandOphthalmoplegia Totalis with Ptosis and Miosis (C564927)
..expandOphthalmoplegia, Chronic Progressive External (D017246) Child7  LSDB C:5
..expandOphthalmoplegia, External, and Myopia (C564087)
..expandOphthalmoplegia, Familial Static (C563500)
..expandOphthalmoplegia, Familial Total, with Iris Transillumination (C563499)
..expandOphthalmoplegia, Progressive, with Scrotal Tongue and Mental Deficiency (C563498)
..expandOphthalmoplegic Migraine (D060486)
..expandOphthalmoplegic Neuromuscular Disorder with Abnormal Mitochondria (C564925)
..expandOptic Atrophy, Deafness, Ophthalmoplegia, and Myopathy (C565117)
..expandProgressive External Ophthalmoplegia With Hypogonadism (C563576)
..expandPROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 6 (OMIM:615156)  LSDB  L: 00050;
..expandProgressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 1 (C563575)  LSDB  L: 00117;
..expandProgressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Recessive (C564926)  LSDB  L: 00118;
..expandPROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 2 (OMIM:616479)  LSDB  L: 00534;
..expandPROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 3 (OMIM:617069)  LSDB  L: 00510;
..expandPROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 4 (OMIM:617070)  LSDB  L: 00535;
..expandSchimke X-linked mental retardation syndrome (C536630)
..expandSensory ataxic neuropathy, dysarthria, and ophthalmoparesis (C537583)  LSDB  L: 00042;
..expandSupranuclear Palsy, Progressive (D013494) Child5
..expandTreft Sanborn Carey syndrome (C536544)
..expandWieacker 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 LSDB:
MSeqDR has 5 matches in descendants: 00047; 00048; 00049; 00074; 00143;  
Genes:
Phenotypes
Disease Causing ClinVar Variants
MSeqDR Portal