IMMUNODEFICIENCY 47 |
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Prevalence (%) of clinical parameters based on data from 1 references describing 6 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 |
| 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 | |
| Liver fibrosis | digestive | 66 % | 27231034 | 2024-06-14 | |
| 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 | |
| Increased blood CK | circulatory | 17 % | 27231034 | 2024-06-14 | |
| 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