Mito DB

Prevalence (%) of clinical parameters based on data from 3 references describing 57 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
Foam cells	multi	100 %	14269714	2020-01-24
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:

WOLMAN'S DISEASE: THREE NEW PATIENTS WITH A RECENTLY DESCRIBED LIPIDOSIS.
A C CROCKER, G F VAWTER, E B NEUHAUSER, A ROSOWSKY,

Pediatrics - Apr 1965

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 - Jul 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