Congenital Disorder of Glycosylation, Type Ia (CDG1A)

Congenital Disorder of Glycosylation, Type Ia(来自ICD-11)

别称:

Pmm2-Congenital Disorder of Glycosylation

Phosphomannomutase 2 Deficiency

Cdg Ia

Cdg1a

Congenital Disorder of Glycosylation Type Ia

Jaeken Syndrome

Carbohydrate-Deficient Glycoprotein Syndrome Type Ia

Congenital Disorder of Glycosylation Type 1a

Congenital Disorder of Glycosylation Ia

Congenital Disorder of Glycosylation 1a

Pmm2 Deficiency

Cdgs1a

Cdg-Ia

Cdgia

Carbohydrate-Deficient Glycoprotein Syndrome, Type Ia, Formerly

Carbohydrate Deficient Glycoprotein Syndrome Type Ia

Glycosylation, Congenital Disorder of, Type Ia

Cdg Syndrome Type Ia

Cdg Syndrome Type 1a

Jaeken's Syndrome

Pmm Deficiency

Pmm2-Cdg

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Congenital Disorder of Glycosylation, Type Ia, also known as pmm2-congenital disorder of glycosylation, is related to congenital disorder of glycosylation, type ic and congenital disorder of glycosylation, type iik, and has symptoms including ataxia, diarrhea and seizures. An important gene associated with Congenital Disorder of Glycosylation, Type Ia is PMM2 (Phosphomannomutase 2), and among its related pathways/superpathways are Metabolism of proteins and Transport to the Golgi and subsequent modification. The drugs Sorbitol and Acetazolamide have been mentioned in the context of this disorder. Affiliated tissues include liver and eye, and related phenotypes are high palate and strabismus

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