Congenital Disorder of Glycosylation, Type If,
CDG1F

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Prevalence (%) of clinical parameters based on data from 1 references describing 3 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 disialo elevation circulatory 100 % 11733564 2024-05-09
Serum transferrin isoelectric focusing tetrasialo decrease circulatory 100 % 11733564 2024-05-09
Mental retardation nervous 100 % 11733564 2024-05-09
Psychomotor retardation nervous 100 % 11733564 2024-05-09
Hypotonia nervous 66 % 11733564 2024-05-09
Kidney cysts urinary 33 % 11733564 2024-05-09
Pericardial effusion circulatory 33 % 11733564 2024-05-09
Ventricular enlargement brain nervous 33 % 11733564 2024-05-09
Enlarged subarachnoid spaces nervous 33 % 11733564 2024-05-09
Dysrhythmia circulatory 33 % 11733564 2024-05-09
Hypsarrhythmia nervous 33 % 11733564 2024-05-09
Optic nerve atrophy nervous 33 % 11733564 2024-05-09
Pale papillae nervous 33 % 11733564 2024-05-09
Elevated creatine kinase (CK) levels circulatory 33 % 11733564 2024-05-09
Thrombocytopenia circulatory 33 % 11733564 2024-05-09
Feeding difficulties digestive 33 % 11733564 2024-05-09
Visual impairment nervous 33 % 11733564 2024-05-09
Thin lips integumentary 33 % 11733564 2024-05-09
Seizures nervous 33 % 11733564 2024-05-09
Facial dysmorphism multi 33 % 11733564 2024-05-09



List of references:


MPDU1 mutations underlie a novel human congenital disorder of glycosylation, designated type If.
B Schenk, T Imbach, C G Frank, C E Grubenmann, G V Raymond, H Hurvitz, I Korn-Lubetzki, S Revel-Vik, A Raas-Rotschild, A S Luder, J Jaeken, E G Berger, G Matthijs, T Hennet, M Aebi,



The Journal of clinical investigation - Dec 2001