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Prevalence (%) of clinical parameters based on data from 1 references describing 2 individuals
Add new symptom/sign to this disease
| 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%) | ||
| Please provide your name and contact information as a reference | |||
| Name | Institute | Phone number | Email address |
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 | |
| Liver fibrosis | digestive | 100 % | 9585601 | 2024-06-14 | |
| 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