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Prevalence (%) of clinical parameters based on data from 1 references describing 15 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 |
| Thrombocytopenia | circulatory | 100 % | 26066342 | 2024-05-06 | |
| Hypotonia | nervous | 92 % | 26066342 | 2024-05-06 | |
| Cerebral atrophy | nervous | 92 % | 26066342 | 2024-05-06 | |
| Cerebellar atrophy | nervous | 92 % | 26066342 | 2024-05-06 | |
| Finger deformity | skeletal | 87 % | 26066342 | 2024-05-06 | |
| Contracture | nervous | 87 % | 26066342 | 2024-05-06 | |
| Hypertelorism | multi | 87 % | 26066342 | 2024-05-06 | |
| Macroglossia | multi | 87 % | 26066342 | 2024-05-06 | |
| Low set ears | multi | 87 % | 26066342 | 2024-05-06 | |
| Edema | circulatory | 84 % | 26066342 | 2024-05-06 | |
| Coagulopathy | circulatory | 73 % | 26066342 | 2024-05-06 | |
| Increased blood transaminase | circulatory | 73 % | 26066342 | 2024-05-06 | |
| Protein-losing enteropathy | urinary | 64 % | 26066342 | 2024-05-06 | |
| Cataract | nervous | 64 % | 26066342 | 2024-05-06 | |
| Feeding difficulties | digestive | 64 % | 26066342 | 2024-05-06 | |
| Diarrhea | digestive | 64 % | 26066342 | 2024-05-06 | |
| Inverted nipples | integumentary | 61 % | 26066342 | 2024-05-06 | |
| Prematurity (<37 weeks | multi | 58 % | 26066342 | 2024-05-06 | |
| Oligohydramnios | multi | 42 % | 26066342 | 2024-05-06 | |
| Hydrops fetalis | multi | 25 % | 26066342 | 2024-05-06 | |
| Short stature | endocrine | 25 % | 26066342 | 2024-05-06 |
List of references:
ALG8-CDG: novel patients and review of the literature.
Michaela Höck, Karina Wegleiter, Elisabeth Ralser, Ursula Kiechl-Kohlendorfer, Sabine Scholl-Bürgi, Christine Fauth, Elisabeth Steichen, Karin Pichler, Dirk J Lefeber, Gert Matthjis, Liesbeth Keldermans, Kathrin Maurer, Johannes Zschocke, Daniela Karall,
Orphanet journal of rare diseases - Jun 2015