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Prevalence (%) of clinical parameters based on data from 1 references describing 16 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 |
| 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 | |
| Increased blood CK | circulatory | 100 % | 24499211 | 2024-06-14 | |
| 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 | |
| Liver fibrosis | digestive | 13 % | 24499211 | 2024-06-14 | |
| 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