Wolman disease

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Prevalence (%) of clinical parameters based on data from 2 references describing 54 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 88 % 28320214 2018-03-07
Hepatomegaly digestive 84 % 28320214 2018-03-07
Hepatomegaly digestive 82 % 28220406 2018-03-07
Liver fibrosis digestive 50 % 28320214 2018-03-07
Short stature multi 50 % 28220406 2018-03-07
Splenomegaly circulatory 45 % 28220406 2018-03-07
Adrenal calcification endocrine 36 % 28220406 2018-03-07
Hypertriglyceridemia circulatory 36 % 28220406 2018-03-07
Increased blood transaminase circulatory 32 % 28220406 2018-03-07
Vomiting digestive 27 % 28220406 2018-03-07
Diarrhea digestive 27 % 28220406 2018-03-07
Hypercholesterolemia circulatory 23 % 28220406 2018-03-07
Abdominal distension digestive 18 % 28220406 2018-03-07
Hypotonia nervous 14 % 28220406 2018-03-07
Cirrhosis digestive 14 % 28220406 2018-03-07
Cirrhosis digestive 13 % 28320214 2018-03-07
Muscle atrophy skeletal 9 % 28220406 2018-03-07



List of references:


Progression of liver disease in children and adults with lysosomal acid lipase deficiency.
Barbara K Burton, Nancy Silliman, Sachin Marulkar,



Current medical research and opinion - 07 2017



Lysosomal Acid Lipase Deficiency in 23 Spanish Patients: High Frequency of the Novel c.966+2T>G Mutation in Wolman Disease.
Carla Ruiz-Andrés, Elena Sellés, Angela Arias, Laura Gort, ,



JIMD reports - 2017