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Prevalence (%) of clinical parameters based on data from 1 references describing 3 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 |
| Increased alkaline phosphatase | circulatory | 100 % | 26833330 | 2024-05-17 | |
| Increased blood transaminase | circulatory | 100 % | 26833330 | 2024-05-17 | |
| Increased blood LDL | circulatory | 100 % | 26833330 | 2024-05-17 | |
| Decreased serum ceruloplasmin | circulatory | 67 % | 26833330 | 2024-05-17 | |
| Steatosis | digestive | 67 % | 26833330 | 2024-05-17 |
List of references:
TMEM199 Deficiency Is a Disorder of Golgi Homeostasis Characterized by Elevated Aminotransferases, Alkaline Phosphatase, and Cholesterol and Abnormal Glycosylation.
Jos C Jansen, Sharita Timal, Monique van Scherpenzeel, Helen Michelakakis, Dorothée Vicogne, Angel Ashikov, Marina Moraitou, Alexander Hoischen, Karin Huijben, Gerry Steenbergen, Marjolein A W van den Boogert, Francesco Porta, Pier Luigi Calvo, Mersyni Mavrikou, Giovanna Cenacchi, Geert van den Bogaart, Jody Salomon, Adriaan G Holleboom, Richard J Rodenburg, Joost P H Drenth, Martijn A Huynen, Ron A Wevers, Eva Morava, François Foulquier, Joris A Veltman, Dirk J Lefeber,
American journal of human genetics - Feb 2016