Sengers Syndrome (MTDPS10)

Sengers Syndrome(来自ICD-11)
别称:
Mitochondrial Dna Depletion Syndrome 10
Congenital Cataract-Hypertrophic Cardiomyopathy-Mitochondrial Myopathy Syndrome
Cardiomyopathy and Cataract
Cataract and Cardiomyopathy
Mtdps10
Cataract Cardiomyopathy
Senger Syndrome
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Basic Information
Medical Symptom
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Sengers Syndrome, also known as mitochondrial dna depletion syndrome 10, is related to lactic acidosis and myopathy, and has symptoms including fatigue and muscle weakness. An important gene associated with Sengers Syndrome is AGK (Acylglycerol Kinase), and among its related pathways/superpathways is Peroxisomal lipid metabolism. Affiliated tissues include skeletal muscle and eye, and related phenotypes are nystagmus and cataract
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MALACARDS
AR
Newborn
<1/1000000
38
141
20

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