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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 |
| Hepatopathy | digestive | 100 % | 11528392 | 2018-08-23 | |
| Increased blood transaminase | circulatory | 100 % | 11528392 | 2018-08-23 | |
| Lactate accumulation | circulatory | 80 % | 11528392 | 2018-08-23 | |
| Tubulopathy | urinary | 40 % | 11528392 | 2018-08-23 | |
| Brain stem pathology | nervous | 40 % | 11528392 | 2018-08-23 | |
| Psychomotor retardation | nervous | 40 % | 11528392 | 2018-08-23 | |
| Hypotonia | nervous | 20 % | 11528392 | 2018-08-23 | |
| Basal ganglia pathology | nervous | 20 % | 11528392 | 2018-08-23 | |
| Vomiting | digestive | 17 % | 11528392 | 2018-08-23 |
List of references:
A mutant mitochondrial respiratory chain assembly protein causes complex III deficiency in patients with tubulopathy, encephalopathy and liver failure.
P de Lonlay, I Valnot, A Barrientos, M Gorbatyuk, A Tzagoloff, J W Taanman, E Benayoun, D Chrétien, N Kadhom, A Lombès, H O de Baulny, P Niaudet, A Munnich, P Rustin, A Rötig,
Nature genetics - Sep 2001