Mito DB

Prevalence (%) of clinical parameters based on data from 2 references describing 107 individuals

Add new symptom/sign to this disease

Select symptom from list or write it in the box		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
Neutropenia	circulatory	98 %	10393609	2013-08-26
Low serum trypsinogen	circulatory	91 %	10393609	2013-08-26
Pancreatic insufficiency	digestive	91 %	10393609	2013-08-26
Steatorrhoea	digestive	86 %	10393609	2013-08-26
Increased fetal hemoglobin	circulatory	80 %	8759887	2013-08-26
Short stature	skeletal	71 %	10393609	2013-08-26
Anemia	circulatory	66 %	8759887	2013-08-26
Increased blood transaminase	digestive	60 %	10393609	2013-08-26
Metaphyseal dysostosis	skeletal	46 %	10393609	2013-08-26
Costochondral thickening	skeletal	45 %	10393609	2013-08-26
Anemia	circulatory	42 %	10393609	2013-08-26
Thrombocytopenia	circulatory	34 %	10393609	2013-08-26
Myelodysplastic syndrome	circulatory	33 %	8759887	2013-08-26
Narrowed thorax	skeletal	32 %	10393609	2013-08-26
Recurrent infections	lymphatic	24 %	10393609	2013-08-26
Cancer	circulatory	24 %	8759887	2013-08-26
Thrombocytopenia	circulatory	24 %	8759887	2013-08-26
Pancytopenia	circulatory	19 %	10393609	2013-08-26
Hepatomegaly	digestive	15 %	10393609	2013-08-26
Myelodysplastic syndrome	circulatory	8 %	10393609	2013-08-26

List of references:

Shwachman syndrome: phenotypic manifestations of sibling sets and isolated cases in a large patient cohort are similar.
H Ginzberg, J Shin, L Ellis, J Morrison, W Ip, Y Dror, M Freedman, L A Heitlinger, M A Belt, M Corey, J M Rommens, P R Durie,

The Journal of pediatrics - Jul 1999

Haematological abnormalities in Shwachman-Diamond syndrome.
O P Smith, I M Hann, J M Chessells, B R Reeves, P Milla,

British journal of haematology - Aug 1996