IMMUNODEFICIENCY 47
IMD47

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Prevalence (%) of clinical parameters based on data from 1 references describing 6 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
Poor response to childhood vaccinations lymphatic 100 % 27231034 2024-05-09
Immune deficiency lymphatic 100 % 27231034 2024-05-09
Recurrent infections lymphatic 100 % 27231034 2024-05-09
Leukopenia lymphatic 100 % 27231034 2024-05-09
Increased blood transaminase circulatory 100 % 27231034 2024-05-09
Hypocupremia circulatory 100 % 27231034 2024-05-09
Cirrhosis digestive 100 % 27231034 2024-05-09
Splenomegaly digestive 83 % 27231034 2024-05-09
Steatosis digestive 66 % 27231034 2024-05-09
Fibrosis digestive 66 % 27231034 2024-05-09
Seizures nervous 50 % 27231034 2024-05-09
Mental retardation nervous 50 % 27231034 2024-05-09
Hyperopia nervous 50 % 27231034 2024-05-09
Hearing impairment nervous 50 % 27231034 2024-05-09
Hypogammaglobulinemia lymphatic 33 % 27231034 2024-05-09
Hypokalemia circulatory 33 % 27231034 2024-05-09
Jaundice digestive 33 % 27231034 2024-05-09
Gastrointestinal bleeding digestive 17 % 27231034 2024-05-09
Muscle weakness multi 17 % 27231034 2024-05-09
Elevated creatine kinase (CK) levels circulatory 17 % 27231034 2024-05-09
Liver failure digestive 16 % 27231034 2024-05-09
Lympadenopathy lymphatic 16 % 27231034 2024-05-09
Hepatomegaly digestive 16 % 27231034 2024-05-09



List of references:


ATP6AP1 deficiency causes an immunodeficiency with hepatopathy, cognitive impairment and abnormal protein glycosylation.
Eric J R Jansen, Sharita Timal, Margret Ryan, Angel Ashikov, Monique van Scherpenzeel, Laurie A Graham, Hanna Mandel, Alexander Hoischen, Theodore C Iancu, Kimiyo Raymond, Gerry Steenbergen, Christian Gilissen, Karin Huijben, Nick H M van Bakel, Yusuke Maeda, Richard J Rodenburg, Maciej Adamowicz, Ellen Crushell, Hans Koenen, Darius Adams, Julia Vodopiutz, Susanne Greber-Platzer, Thomas Müller, Gregor Dueckers, Eva Morava, Jolanta Sykut-Cegielska, Gerard J M Martens, Ron A Wevers, Tim Niehues, Martijn A Huynen, Joris A Veltman, Tom H Stevens, Dirk J Lefeber,



Nature communications - May 2016