Congenital Disorder of Glycosylation, Type Iik (CDG2K)

Congenital Disorder of Glycosylation, Type Iik(来自ICD-11)
别称:
Congenital Disorder of Glycosylation Type Iik
Cdg2k
Cdg Iik
Carbohydrate Deficient Glycoprotein Syndrome Type Iik
Congenital Disorder of Glycosylation Type 2k
Cdg Syndrome Type Iik
Cdg-Iik
Cdgiik
Glycosylation, Congenital Disorder of, Type Iik
Tmem165-Congenital Disorder of Glycosylation
Congenital Disorder of Glycosylation 2k
Tmem165-Cdg
Cdgiidk
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Congenital Disorder of Glycosylation, Type Iik, also known as congenital disorder of glycosylation type iik, is related to congenital disorder of glycosylation, type ih and congenital disorder of glycosylation, type iim, and has symptoms including muscle weakness An important gene associated with Congenital Disorder of Glycosylation, Type Iik is TMEM165 (Transmembrane Protein 165), and among its related pathways/superpathways are Infectious disease and Metabolism of proteins. Affiliated tissues include bone and eye, and related phenotypes are midface retrusion and amelogenesis imperfecta
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参考文献
MALACARDS
AR
Newborn
<1/1000000
17
74
2

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MGI
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