Arterial Tortuosity Syndrome (ATORS)

Arterial Tortuosity Syndrome(来自ICD-11)
别称:
Arterial Tortuosity
Ats
Ators
Tortuosity, Arterial, Syndrome
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Basic Information
Medical Symptom
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References Literature
Arterial Tortuosity Syndrome, also known as arterial tortuosity, is related to loeys-dietz syndrome 1 and loeys-dietz syndrome 5. An important gene associated with Arterial Tortuosity Syndrome is SLC2A10 (Solute Carrier Family 2 Member 10), and among its related pathways/superpathways are ERK Signaling and Integrin Pathway. Affiliated tissues include skin and heart, and related phenotypes are congestive heart failure and telangiectasia of the skin
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参考文献
MALACARDS
AR
Infant
<1/1000000
18
141
51

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