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Term:
Recurrent Metabolic Encephalomyopathic Crises with Rhabdomyolysis, Cardiac Arrhythmias, and Neurodegeneration (DOID:9005324)
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Parent Terms Term With Siblings Child Terms
Rhabdomyolysis +     
ankyrin-B-related cardiac arrhythmia  
atrial fibrillation +   
Atrial Flutter 
Atrial Septal Defect, Secundum, with Various Cardiac and Noncardiac Defects 
autosomal recessive limb-girdle muscular dystrophy type 2X  
Axonal Encephalopathy with Necrotizing Myopathy, Cardiomyopathy, and Cataracts 
Bradycardia +   
Brugada syndrome +   
Cardiac Complexes, Premature +   
Cardiac Conduction Defect, Nonprogressive  
Cardiac Conduction Disease with or without Dilated Cardiomyopathy  
central pontine myelinolysis  
cerebral folate receptor alpha deficiency  
chronic atrial and intestinal dysrhythmia  
Commotio Cordis 
CSF1R-related brain malformation and osteopetrosis 
Encephalopathy with Intracranial Calcification, Growth Hormone Deficiency, Microcephaly, and Retinal Degeneration 
Ethanolaminosis 
glutaric acidemia I  
GLYCINE ENCEPHALOPATHY WITH NORMAL SERUM GLYCINE  
Heart Block +   
hepatic encephalopathy +   
Hunter Carpenter Macdonald Syndrome 
INFLAMMATORY BOWEL DISEASE, IMMUNODEFICIENCY, AND ENCEPHALOPATHY  
INTELLECTUAL DEVELOPMENTAL DISORDER WITH CARDIAC ARRHYTHMIA  
Karak Syndrome  
kernicterus +   
LANGUAGE DELAY AND ATTENTION DEFICIT-HYPERACTIVITY DISORDER/COGNITIVE IMPAIRMENT WITH OR WITHOUT CARDIAC ARRHYTHMIA  
long QT syndrome +   
Maccario Mena Weir Syndrome 
Marchiafava-Bignami Disease 
Metabolic Brain Diseases, Inborn +   
mitochondrial encephalomyopathy +   
myoglobinuria +   
neurodegeneration with brain iron accumulation +   
Osteopetrosis and Infantile Neuroaxonal Dystrophy 
pantothenate kinase-associated neurodegeneration +   
Parasystole 
Pre-Excitation Syndromes +   
Progressive Early-Onset Encephalopathy with Episodic Rhabdomyolysis  
pyridoxamine 5'-phosphate oxidase deficiency  
QT Interval, Variation In 
Recurrent Metabolic Encephalomyopathic Crises with Rhabdomyolysis, Cardiac Arrhythmias, and Neurodegeneration  
Recurrent metabolic crises with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration (MECRCN) is an autosomal recessive disorder characterized by episodic metabolic degeneration affecting skeletal muscle, cardiac muscle, and the nervous system. Affected individuals usually present in childhood with acute encephalomyopathic features, including rhabdomyolysis, hypotonia, and neurologic regression, although most patients have delayed psychomotor development before the acute onset. The overall disease course is characterized by progressive neurodegeneration with epilepsy, cognitive impairment, pyramidal and cerebellar signs, and loss of expressive language. Cardiac involvement with severe arrhythmias is a consistent and potentially life-threatening manifestation. MECRCN is caused by homozygous or compound heterozygous mutation in the TANGO2 gene on chromosome 22q11. (OMIM)
Reye syndrome  
Rhabdomyolysis, Cerivastatin-Induced  
Schindler Disease, Type I  
Schofer Beetz Bohl Syndrome 
short QT syndrome +   
Simpson-Golabi-Behmel syndrome type 1  
Sinus Arrhythmia +   
Tachycardia +   
Thiamine Metabolism Dysfunction Syndrome 5 (Episodic Encephalopathy Type)  
Ventricular Fibrillation +   
Ventricular Flutter 
Wernicke encephalopathy  
Woodhouse-Sakati Syndrome  

Synonyms
Exact Synonyms: MECRCN ;   METABOLIC CRISES, RECURRENT, WITH RHABDOMYOLYSIS, CARDIAC ARRHYTHMIAS, AND NEURODEGENERATION ;   recurrent metabolic encephalomyopathic crises associated with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration
Primary IDs: OMIM:616878
Alternate IDs: RDO:9001171

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