Congenital Disorder of Glycosylation, Type if (CDG1F)

Alias:

Cdg1f

Congenital Disorder of Glycosylation Type if

Congenital Disorder of Glycosylation 1f

Cdg if

Cdg-if

Cdgif

Carbohydrate Deficient Glycoprotein Syndrome Type if

Glycosylation, Congenital Disorder of, Type if

Congenital Disorder of Glycosylation Type 1f

Mpdu1-Congenital Disorder of Glycosylation

Congenital Disorder of Glycosylation if

Cdg Syndrome Type if

Mpdu1-Cdg

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Congenital Disorder of Glycosylation, Type if, also known as cdg1f, is related to congenital disorder of glycosylation, type in and congenital disorders of n-linked glycosylation and multiple pathway, and has symptoms including ataxia, seizures and dry skin. An important gene associated with Congenital Disorder of Glycosylation, Type if is MPDU1 (Mannose-P-Dolichol Utilization Defect 1). Affiliated tissues include skin and brain, and related phenotypes are intellectual disability, severe and type i transferrin isoform profile

Related ID：

MALACARDS：CNG188

OMIM：609180

MESH：D018981