Ngly1-Deficiency

Alias:

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

Related Drugs

Disease Model

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

Related ID：

MALACARDS：NGL007

MESH：C000626124