Niemann-Pick disease

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We were unfortunately unable to download the information for this disease from OMIM.



Prevalence of clinical parameters (%)







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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
Developmental delay nervous 100 % 16434659 2014-02-06
Failure to thrive multi 100 % 16434659 2014-02-06
Irritability nervous 100 % 16434659 2014-02-06
Weight loss multi 100 % 16434659 2014-02-06
Hypotonia nervous 100 % 16434659 2014-02-06
Areflexia nervous 100 % 16434659 2014-02-06
Retinal cherry red spot nervous 100 % 16434659 2014-02-06
Thrombocytopenia circulatory 100 % 16434659 2014-02-06
Hypercholesterolemia circulatory 100 % 16434659 2014-02-06
Hypertriglyceridemia circulatory 100 % 16434659 2014-02-06
Increased blood transaminase digestive 100 % 16434659 2014-02-06
Vomiting digestive 80 % 16434659 2014-02-06
Macrocephaly nervous 20 % 16434659 2014-02-06
Nystagmus nervous 20 % 16434659 2014-02-06



List of references:


Natural history of Type A Niemann-Pick disease: possible endpoints for therapeutic trials.
M M McGovern, A Aron, S E Brodie, R J Desnick, M P Wasserstein,

To describe the disease course and natural history of Type A Niemann-Pick disease (NPD).

Neurology - Jan 2006