Congenital Disorder of Glycosylation, Type It
CDG1T

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Prevalence (%) of clinical parameters based on data from 1 references describing 16 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
Steatosis digestive 100 % 24499211 2024-05-13
Bile duct atrophy digestive 100 % 24499211 2024-05-13
Increased blood transaminase circulatory 100 % 24499211 2024-05-13
Elevated creatine kinase (CK) levels circulatory 100 % 24499211 2024-05-13
Bifid uvula multi 100 % 24499211 2024-05-13
Cleft lip or palate multi 94 % 24499211 2024-05-13
Short stature endocrine 93 % 24499211 2024-05-13
Muscle weakness multi 69 % 24499211 2024-05-13
Pierre-Robin sequence multi 56 % 24499211 2024-05-13
Decreased blood protein S circulatory 50 % 24499211 2024-05-13
Decreased blood protein P circulatory 50 % 24499211 2024-05-13
Decreased blood antithrombin III circulatory 50 % 24499211 2024-05-13
Dilated cardiomyopathy circulatory 38 % 24499211 2024-05-13
Rhabdomyolysis multi 31 % 24499211 2024-05-13
Cardiac arrest circulatory 25 % 24499211 2024-05-13
Hypogonadism endocrine 13 % 24499211 2024-05-13
Respiratory failure respiratory 13 % 24499211 2024-05-13
Fibrosis digestive 13 % 24499211 2024-05-13
Cholestasis digestive 13 % 24499211 2024-05-13
Hyperthermia multi 13 % 24499211 2024-05-13
Hypocholesterolemia endocrine 12 % 24499211 2024-05-13
Seizures nervous 6 % 24499211 2024-05-13
Thrombotic episodes circulatory 6 % 24499211 2024-05-13



List of references:


Multiple phenotypes in phosphoglucomutase 1 deficiency.
Laura C Tegtmeyer, Stephan Rust, Monique van Scherpenzeel, Bobby G Ng, Marie-Estelle Losfeld, Sharita Timal, Kimiyo Raymond, Ping He, Mie Ichikawa, Joris Veltman, Karin Huijben, Yoon S Shin, Vandana Sharma, Maciej Adamowicz, Martin Lammens, Janine Reunert, Anika Witten, Esther Schrapers, Gert Matthijs, Jaak Jaeken, Daisy Rymen, Tanya Stojkovic, Pascal Laforêt, François Petit, Olivier Aumaître, Elzbieta Czarnowska, Monique Piraud, Teodor Podskarbi, Charles A Stanley, Reuben Matalon, Patricie Burda, Soraya Seyyedi, Volker Debus, Piotr Socha, Jolanta Sykut-Cegielska, Francjan van Spronsen, Linda de Meirleir, Pietro Vajro, Terry DeClue, Can Ficicioglu, Yoshinao Wada, Ron A Wevers, Dieter Vanderschaeghe, Nico Callewaert, Ralph Fingerhut, Emile van Schaftingen, Hudson H Freeze, Eva Morava, Dirk J Lefeber, Thorsten Marquardt,



The New England journal of medicine - Feb 2014