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PEOA4
MCID: PRG040
MIFTS: 39
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Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 4 (PEOA4)
Categories:
Bone diseases, Ear diseases, Eye diseases, Fetal diseases, Genetic diseases, Metabolic diseases, Neuronal diseases, Rare diseases
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Aliases & Classifications for Progressive External Ophthalmoplegia with Mitochondrial Dna...
MalaCards integrated aliases for Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 4:
Name: Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 4
58
13
Characteristics:OMIM:58
Inheritance:
autosomal dominant
Miscellaneous:
variable severity progressive disorder variable age at onset (range infancy to adult) HPO:33
progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 4:
Onset and clinical course variable expressivity adult onset progressive Inheritance autosomal dominant inheritance Classifications:
MalaCards categories:
Global: Genetic diseases Metabolic diseases Rare diseases Fetal diseases Anatomical: Eye diseases Neuronal diseases Ear diseases Bone diseases |
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UniProtKB/Swiss-Prot
:
76
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 4: A disorder characterized by progressive weakness of ocular muscles and levator muscle of the upper eyelid. In a minority of cases, it is associated with skeletal myopathy, which predominantly involves axial or proximal muscles and which causes abnormal fatigability and even permanent muscle weakness. Ragged-red fibers and atrophy are found on muscle biopsy. A large proportion of chronic ophthalmoplegias are associated with other symptoms, leading to a multisystemic pattern of this disease. Additional symptoms are variable, and may include cataracts, hearing loss, sensory axonal neuropathy, ataxia, depression, hypogonadism, and parkinsonism.
MalaCards based summary : Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 4, also known as progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant, 4, is related to chronic progressive external ophthalmoplegia and kearns-sayre syndrome, and has symptoms including seizures, muscle weakness and myalgia. An important gene associated with Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 4 is POLG2 (DNA Polymerase Gamma 2, Accessory Subunit). Affiliated tissues include eye, skeletal muscle and liver, and related phenotypes are seizures and failure to thrive OMIM : 58 Progressive external ophthalmoplegia-4 is an autosomal dominant form of mitochondrial disease that variably affects skeletal muscle, the nervous system, the liver, and the gastrointestinal tract. Age at onset ranges from infancy to adulthood. The phenotype ranges from relatively mild, with adult-onset skeletal muscle weakness and weakness of the external eye muscles, to severe, with a multisystem disorder characterized by delayed psychomotor development, lactic acidosis, constipation, and liver involvement (summary by Young et al., 2011). For a general phenotypic description and a discussion of genetic heterogeneity of autosomal dominant progressive external ophthalmoplegia, see PEOA1 (157640). (610131) |
Human phenotypes related to Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 4:33 (show all 23)
Symptoms via clinical synopsis from OMIM:58Clinical features from OMIM:610131UMLS symptoms related to Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 4:seizures, muscle weakness, myalgia, ophthalmoplegia, cerebellar ataxia, facial paresis |
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MalaCards organs/tissues related to Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 4:42
Eye,
Skeletal Muscle,
Liver,
Retina,
Skin,
Brain,
Bone
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Articles related to Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 4:(show top 50) (show all 173)
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Genes related to Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 4 (1 elite genes): - Elite gene
- Cancer Census gene in COSMIC
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UniProtKB/Swiss-Prot genetic disease variations for Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 4:76
ClinVar genetic disease variations for Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 4:6
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Search
GEO
for disease gene expression data for Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 4.
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