Ngly1-Deficiency

Ngly1-Deficiency(来自ICD-11)
别称:
Congenital Disorder of Glycosylation Type Iv
Congenital Disorder of Deglycosylation
Deficiency of N-Glycanase 1
Ngly1 Deficiency
Ngly1-Cddg
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Basic Information
Medical Symptom
Gene & Mutation
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References Literature
Ngly1-Deficiency, also known as congenital disorder of glycosylation type iv, is related to hypotonia and microcephaly. An important gene associated with Ngly1-Deficiency is NGLY1 (N-Glycanase 1), and among its related pathways/superpathways are Metabolism of proteins and Transport to the Golgi and subsequent modification. The drug Ophthalmic Solutions has been mentioned in the context of this disorder. Affiliated tissues include liver, and related phenotypes are Decreased shRNA abundance and mortality/aging
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相关ID:
MESH:C000626124

基础信息

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参考文献
MALACARDS
AR
Newborn
--
18
115
4

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