Disease: Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 4

Name Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 4

Synonyms PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, AUTOSOMAL DOMINANT 4

Classification eye, genetic, metabolism, neurological

Phenotypes Abnormality of the liver; Adult onset; Arrhythmia; Autosomal dominant inheritance; Cerebellar atrophy; Cerebral visual impairment; Constipation; Cytochrome C oxidase-negative muscle fibers; Elevated hepatic transaminase; Elevated serum creatine kinase; Exercise intolerance; Facial palsy; Failure to thrive; Gastroesophageal reflux; Gastroparesis; Generalized hypotonia; Global developmental delay; Impaired glucose tolerance; Increased serum lactate; Limb muscle weakness; Multiple mitochondrial DNA deletions; Myalgia; Progressive; Progressive external ophthalmoplegia; Progressive muscle weakness; Ptosis; Seizure; Variable expressivity

Associated Genes POLG2 (Withdrawn symbols: HP55, MTPOLB )

Mouse Orthologs Polg2

Source OMIM:610131 (names, synonyms, disease associated genes),
Orphanet (disease classes),
HGNC, Ensembl, MGI (gene symbols, gene orthology)
HPO (phenotypes)

Mouse Model: phenotype-based associations

Disease phenotypes are compared with mouse phenotypes, with each mouse model contributing one point to the diagram. Scores are computed according to phenotype specificity and cross-species similarity. X-axis shows the score of the single phenotype that contributes most. Y-axis shows an average among all phenotype matches. The curved line designates a visualization threshold; models below threshold are omitted, except when their genotype matches a disease-associated gene.

Mouse Models

The IMPC Newsletter

Get highlights of the most important data releases, news and events, delivered straight to your email inbox

Subscribe to newsletter