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Term:
Episodic Mitochondrial Myopathy with or without Optic Atrophy and Reversible Leukoencephalopathy (DOID:9009350)
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Parent Terms Term With Siblings Child Terms
optic atrophy +     
3-methylglutaconic aciduria type 3  
adult-onset leukoencephalopathy with axonal spheroids and pigmented glia  
Adult-Onset Muscular Dystrophy with Leukoencephalopathy 
Al Gazali Khidr Prem Chandran Syndrome 
Al Gazali Sabrinathan Nair Syndrome 
ATAXIA, SPASTIC, CHILDHOOD-ONSET, AUTOSOMAL RECESSIVE, WITH OPTIC ATROPHY AND MENTAL RETARDATION  
Behr Syndrome  
CAPOS Syndrome  
Cerebral Autosomal Recessive Arteriopathy with Subcortical Infarcts and Leukoencephalopathy  
Cerebroretinal Microangiopathy with Calcifications and Cysts +   
chronic progressive external ophthalmoplegia +   
COL4A1-related familial vascular leukoencephalopathy  
combined oxidative phosphorylation deficiency 12  
combined oxidative phosphorylation deficiency 3  
Cystic Leukoencephalopathy without Megalencephaly  
deafness-dystonia-optic neuronopathy syndrome  
Demyelinating Autoimmune Diseases, CNS +   
DYSTONIA, CHILDHOOD-ONSET, WITH OPTIC ATROPHY AND BASAL GANGLIA ABNORMALITIES  
Episodic Mitochondrial Myopathy with or without Optic Atrophy and Reversible Leukoencephalopathy  
An autosomal recessive neuromuscular disorder characterized mainly by childhood onset of progressive muscle weakness and exercise intolerance. Patients have episodic exacerbation, which may be associated with increased serum creatine kinase or lactic acid. Additional more variable features may include optic atrophy, reversible leukoencephalopathy, and later onset of a sensorimotor polyneuropathy. The disorder results from impaired formation of Fe-S clusters, which are essential cofactors for proper mitochondrial function. MEOAL is caused by homozygous mutation in the FDX2 gene on chromosome 19p13. (OMIM)
glaucomatous atrophy of optic disc 
Hereditary Central Nervous System Demyelinating Diseases +   
Hereditary Optic Atrophies +   
Hypomyelination with Brainstem and Spinal Cord Involvement and Leg Spasticity  
infantile cerebellar-retinal degeneration  
Labrune Syndrome  
Leukoencephalopathy with Ataxia  
Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation  
Leukoencephalopathy with Dystonia and Motor Neuropathy  
leukoencephalopathy with vanishing white matter  
LEUKOENCEPHALOPATHY, ACUTE REVERSIBLE, WITH INCREASED URINARY ALPHA-KETOGLUTARATE  
Leukoencephalopathy, Arthritis, Colitis, and Hypogammaglobulinemia 
Mental Retardation with Optic Atrophy, Facial Dysmorphism, Microcephaly, and Short Stature 
MICROANGIOPATHY AND LEUKOENCEPHALOPATHY, PONTINE, AUTOSOMAL DOMINANT  
mitochondrial DNA depletion syndrome 11  
mitochondrial DNA depletion syndrome 12a  
mitochondrial DNA depletion syndrome 12b  
mitochondrial DNA depletion syndrome 14  
mitochondrial DNA depletion syndrome 15  
Mitochondrial DNA Depletion Syndrome, Hepatocerebral Form, Autosomal Recessive +   
mitochondrial encephalomyopathy +   
Mitochondrial Myopathy with a Defect in Mitochondrial Protein Transport 
Mitochondrial Myopathy with Diabetes 
Mitochondrial Myopathy with Lactic Acidosis  
Mitochondrial Myopathy, and Ataxia  
Mitochondrial Myopathy, Infantile, Transient  
Mitochondrial Myopathy, Lethal Infantile  
Mitochondrial Progressive Myopathy with Congenital Cataract, Hearing Loss, and Developmental Delay  
MYOPATHY, ISOLATED MITOCHONDRIAL, AUTOSOMAL DOMINANT  
NARP syndrome  
Optic Atrophy, Hearing Loss, and Peripheral Neuropathy, Autosomal Dominant 
partial optic atrophy 
PEHO syndrome  
Posterior Leukoencephalopathy Syndrome  
primary optic atrophy 
Progressive Encephalopathy with Amyotrophy and Optic Atrophy  
Progressive Encephalopathy, Early-Onset, with Brain Edema and/or Leukoencephalopathy +   
Progressive Leukoencephalopathy, with Ovarian Failure  
progressive multifocal leukoencephalopathy 
Ribose 5-Phosphate Isomerase Deficiency  
Silengo Lerone Pelizza Syndrome 
spastic ataxia +   
spastic ataxia 3  
SPOAN syndrome  
Telencephalic Leukoencephalopathy 
Treft Sanborn Carey Syndrome 
vascular dementia +   
Warburg micro syndrome +   
X-Linked Mental Retardation Gustavson Type 
X-linked Spondyloepimetaphyseal Dysplasia with Hypomyelinating Leukodystrophy  

Synonyms
Exact Synonyms: MEOAL
Primary IDs: OMIM:251900

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.