Congenital Disorder of Glycosylation, Type Ib (CDG1B)

Alias:

Cdg1b

Protein-Losing Enteropathy-Hepatic Fibrosis Syndrome

Congenital Disorder of Glycosylation Type 1b

Congenital Disorder of Glycosylation Type Ib

Congenital Disorder of Glycosylation Ib

Congenital Disorder of Glycosylation 1b

Mannosephosphate Isomerase Deficiency

Saguenay-Lac Saint-Jean Syndrome

Mpi Deficiency

Slsj Syndrome

Mpi-Cdg

Cdg Ib

Cdg-Ib

Cdgib

Carbohydrate Deficient Glycoprotein Syndrome Type Ib

Carbohydrate-Deficient Glycoprotein Syndrome Type Ib

Glycosylation, Congenital Disorder of, Type Ib

Mpi-Congenital Disorder of Glycosylation

Phosphomannose Isomerase Deficiency

Cdg, Gastrointestinal Type

Cdg Gastrointestinal Type

Cdg Syndrome Type Ib

Cdg Syndrome Type 1b

Cdgs1b

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Congenital Disorder of Glycosylation, Type Ib, also known as cdg1b, is related to protein-losing enteropathy and congenital disorder of glycosylation, type in, and has symptoms including diarrhea and vomiting. An important gene associated with Congenital Disorder of Glycosylation, Type Ib is MPI (Mannose Phosphate Isomerase). Affiliated tissues include liver and brain, and related phenotypes are abnormal circulating enzyme concentration or activity and hepatomegaly

Related ID：

MALACARDS：CNG189

OMIM：602579

MESH：D018981