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Prevalence (%) of clinical parameters based on data from 4 references describing 85 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 |
| Anemia | circulatory | 100 % | 7581370 | 2011-10-10 | |
| Lactate accumulation | circulatory | 100 % | 2243133 | 2011-10-10 | |
| Failure to thrive | multi | 100 % | 501502 | 2014-05-01 | |
| Anemia | circulatory | 82 % | 17434771 | 2011-10-18 | |
| Diarrhea | digestive | 71 % | 7581370 | 2011-10-10 | |
| Pancreatic insufficiency | digestive | 67 % | 7581370 | 2011-10-10 | |
| Developmental delay | nervous | 55 % | 17434771 | 2011-10-10 | |
| Ataxia | nervous | 46 % | 17434771 | 2011-10-10 | |
| Tubulopathy | urinary | 43 % | 7581370 | 2011-10-10 | |
| Liver failure | digestive | 33 % | 7581370 | 2011-10-10 | |
| Tremor | nervous | 27 % | 17434771 | 2011-10-10 | |
| Pancreatic insufficiency | digestive | 18 % | 17434771 | 2011-10-10 | |
| Hypotonia | nervous | 18 % | 17434771 | 2011-10-10 |
List of references:
Spectrum of mitochondrial DNA rearrangements in the Pearson marrow-pancreas syndrome.
A Rötig, T Bourgeron, D Chretien, P Rustin, A Munnich,
Human molecular genetics - Aug 1995
Pearson's marrow-pancreas syndrome. A multisystem mitochondrial disorder in infancy.
A Rötig, V Cormier, S Blanche, J P Bonnefont, F Ledeist, N Romero, J Schmitz, P Rustin, A Fischer, J M Saudubray,
The Journal of clinical investigation - Nov 1990
A new syndrome of refractory sideroblastic anemia with vacuolization of marrow precursors and exocrine pancreatic dysfunction.
H A Pearson, J S Lobel, S A Kocoshis, J L Naiman, J Windmiller, A T Lammi, R Hoffman, J C Marsh,
The Journal of pediatrics - Dec 1979
The neurological evolution of Pearson syndrome: case report and literature review.
Hsiu-Fen Lee, Huei-Jane Lee, Ching-Shiang Chi, Chi-Ren Tsai, Te-Kau Chang, Chau-Jong Wang,
European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society - Jul 2007