Gaucher disease

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Prevalence (%) of clinical parameters based on data from 2 references describing 1,272 individuals







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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%)
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List of symptoms



Symptom/sign Organ system Percent affected Pubmed id Added on(yyyy-mm-dd) Edit/add reference
Splenomegaly circulatory 87 % 11025794 2018-03-04
Hepatomegaly digestive 79 % 11025794 2018-03-04
Anemia circulatory 64 % 11025794 2018-03-04
Bone pain skeletal 63 % 11025794 2018-03-04
Thrombocytopenia circulatory 57 % 11025794 2018-03-04
Erlenmeyer flask deformity skeletal 46 % 11025794 2018-03-04
Osteopenia skeletal 42 % 11025794 2018-03-04
Marrow infiltration skeletal 40 % 11025794 2018-03-04
Bone infarction skeletal 25 % 11025794 2018-03-04
Osteonecrosis skeletal 25 % 11025794 2018-03-04
Epistaxis circulatory 19 % 1435229 2018-03-04
Bruising circulatory 19 % 1435229 2018-03-04
Fracture skeletal 15 % 11025794 2018-03-04
Osteolytic lesion skeletal 8 % 11025794 2018-03-04
Joint replacement skeletal 8 % 11025794 2018-03-04



List of references:


The Gaucher registry: demographics and disease characteristics of 1698 patients with Gaucher disease.
J Charrow, H C Andersson, P Kaplan, E H Kolodny, P Mistry, G Pastores, B E Rosenbloom, C R Scott, R S Wappner, N J Weinreb, A Zimran,



Archives of internal medicine - Oct 2000



Gaucher disease. Clinical, laboratory, radiologic, and genetic features of 53 patients.
A Zimran, A Kay, T Gelbart, P Garver, D Thurston, A Saven, E Beutler,



Medicine - Nov 1992