Peters-Plus Syndrome (PTRPLS)

Peters-Plus Syndrome(来自ICD-11)
别称:
Krause-Kivlin Syndrome
Peters Plus Syndrome
Peters Anomaly
Peters Congenital Glaucoma
Krause-Van Schooneveld-Kivlin Syndrome
Irido-Corneo-Trabecular Dysgenesis
Peters Anomaly-Short Limb Dwarfism Syndrome
Peters Anomaly with Short-Limb Dwarfism
Peters Anomaly with Short Limb Dwarfism
Ptrpls
Peters' Plus Syndrome
Peters'-Plus Syndrome
Anomaly Peters
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Peters-Plus Syndrome, also known as krause-kivlin syndrome, is related to anterior segment dysgenesis 5 and intraocular pressure quantitative trait locus, and has symptoms including seizures An important gene associated with Peters-Plus Syndrome is B3GLCT (Beta 3-Glucosyltransferase), and among its related pathways/superpathways are Diseases of glycosylation and O-linked glycosylation of mucins. Affiliated tissues include eye and heart, and related phenotypes are peters anomaly and intellectual disability
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参考文献
MALACARDS
AR
AD
Newborn
<1/1000000
65
644
145

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