Metabolic Crises, Recurrent, with Rhabdomyolysis, Cardiac Arrhythmias, and Neurodegeneration (MECRCN)

Alias:
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome
Metabolic Encephalomyopathic Crises, Recurrent, with Rhabdomyolysis, Cardiac Arrhythmias, and Neurodegeneration
Mecrcn
Tango2-Related Metabolic Encephalopathy-Arrhythmia Syndrome
Rhabdomyolysis
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Metabolic Crises, Recurrent, with Rhabdomyolysis, Cardiac Arrhythmias, and Neurodegeneration, also known as recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome, is related to tango2-related metabolic encephalopathy and arrythmias and recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-, and has symptoms including muscle cramp, muscle rigidity and muscle spasticity. An important gene associated with Metabolic Crises, Recurrent, with Rhabdomyolysis, Cardiac Arrhythmias, and Neurodegeneration is TANGO2 (Transport And Golgi Organization 2 Homolog). The drugs Propofol and Sevoflurane have been mentioned in the context of this disorder. Affiliated tissues include skeletal muscle and brain, and related phenotypes are intellectual disability and global developmental delay
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
Unknown
<1/1000000
5
35
11

Medical Symptom

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Categorization
Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
No data available

Gene & Mutation

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Score
Mutations
No data available

Related Drugs

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CAS Number
Status
Phase
No data available

Disease Model

Category
Name
MGI
Related Gene
Strain of Origin
Publications
No data available

References Literature

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PMID
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IF
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