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Prevalence (%) of clinical parameters based on data from 1 references describing 5 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 |
| Hypercholesterolemia | endocrine | 100 % | 26833332 | 2024-05-17 | |
| Decreased serum ceruloplasmin | circulatory | 100 % | 26833332 | 2024-05-17 | |
| Increased blood LDL | circulatory | 100 % | 26833332 | 2024-05-17 | |
| Hypotonia | nervous | 80 % | 26833332 | 2024-05-17 | |
| Hepatomegaly | endocrine | 80 % | 26833332 | 2024-05-17 | |
| Psychomotor retardation | nervous | 80 % | 26833332 | 2024-05-17 | |
| Increased alkaline phosphatase | circulatory | 80 % | 26833332 | 2024-05-17 | |
| Increased blood transaminase | circulatory | 80 % | 26833332 | 2024-05-17 | |
| Liver failure | digestive | 40 % | 26833332 | 2024-05-17 | |
| Liver fibrosis | digestive | 20 % | 26833332 | 2024-05-17 | |
| Seizures | nervous | 20 % | 26833332 | 2024-05-17 | |
| Steatosis | digestive | 20 % | 26833332 | 2024-05-17 | |
| Hepatic copper accumulation | digestive | 20 % | 26833332 | 2024-05-17 | |
| Cirrhosis | digestive | 20 % | 26833332 | 2024-05-17 |
List of references:
CCDC115 Deficiency Causes a Disorder of Golgi Homeostasis with Abnormal Protein Glycosylation.
Jos C Jansen, Sebahattin Cirak, Monique van Scherpenzeel, Sharita Timal, Janine Reunert, Stephan Rust, Belén Pérez, Dorothée Vicogne, Peter Krawitz, Yoshinao Wada, Angel Ashikov, Celia Pérez-Cerdá, Celia Medrano, Andrea Arnoldy, Alexander Hoischen, Karin Huijben, Gerry Steenbergen, Dulce Quelhas, Luisa Diogo, Daisy Rymen, Jaak Jaeken, Nathalie Guffon, David Cheillan, Lambertus P van den Heuvel, Yusuke Maeda, Olaf Kaiser, Ulrike Schara, Patrick Gerner, Marjolein A W van den Boogert, Adriaan G Holleboom, Marie-Cécile Nassogne, Etienne Sokal, Jody Salomon, Geert van den Bogaart, Joost P H Drenth, Martijn A Huynen, Joris A Veltman, Ron A Wevers, Eva Morava, Gert Matthijs, François Foulquier, Thorsten Marquardt, Dirk J Lefeber,
American journal of human genetics - Feb 2016