Congenital Disorder of Glycosylation, Type IIp

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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
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