Congenital Disorder of Glycosylation, Type Ib,
CDG1B

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Prevalence (%) of clinical parameters based on data from 1 references describing 2 individuals







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Pubmed id number as a reference Organ system affected
Number of patients in the reference Percent affected patients (Between 0 and 1, eg. 0.1 = 10%)
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List of symptoms



Symptom/sign Organ system Percent affected Pubmed id Added on(yyyy-mm-dd) Edit/add reference
Serum transferrin isoelectric focusing tetrasialo decrease circulatory 100 % 9585601 2024-05-09
Serum transferrin isoelectric focusing disialo elevation circulatory 100 % 9585601 2024-05-09
Decreased blood protein S circulatory 100 % 9585601 2024-05-09
Decreased blood protein P circulatory 100 % 9585601 2024-05-09
Decreased blood antithrombin III circulatory 100 % 9585601 2024-05-09
Steatosis digestive 100 % 9585601 2024-05-09
Fibrosis digestive 100 % 9585601 2024-05-09
Hypoglycemia endocrine 100 % 9585601 2024-05-09
Diarrhea digestive 100 % 9585601 2024-05-09
Protein-losing enteropathy urinary 100 % 9585601 2024-05-09
Feeding difficulties digestive 100 % 9585601 2024-05-09
Hepatomegaly digestive 100 % 9585601 2024-05-09
Intestinal villous atrophy digestive 100 % 9585601 2024-05-09
Gastrointestinal bleeding digestive 100 % 9585601 2024-05-09
Anemia circulatory 50 % 9585601 2024-05-09
Hyperaminoaciduria urinary 50 % 9585601 2024-05-09
Low serum IgG lymphatic 50 % 9585601 2024-05-09
Hypoalbuminemia circulatory 50 % 9585601 2024-05-09
Apnea respiratory 50 % 9585601 2024-05-09
Coma multi 50 % 9585601 2024-05-09
Thrombotic episodes circulatory 50 % 9585601 2024-05-09



List of references:


Phosphomannose isomerase deficiency: a carbohydrate-deficient glycoprotein syndrome with hepatic-intestinal presentation.
J Jaeken, G Matthijs, J M Saudubray, C Dionisi-Vici, E Bertini, P de Lonlay, H Henri, H Carchon, E Schollen, E Van Schaftingen,



American journal of human genetics - Jun 1998