Wolman Disease (WOLD)

Alias:
Wolman's Disease
Wolman Disease with Hypolipoproteinemia and Acanthocytosis
Lysosomal Acid Lipase Deficiency, Acute Infantile
Wolman's or Triglyceride Storage Type Iii Disease
Cholesterol Ester Hydrolase Deficiency, Complete
Lysosomal Acid Lipase Deficiency, Complete
Lipa Deficiency, Complete
Lal Deficiency, Complete
Acid Esterase Deficiency
Xanthomatosis, Familial
Acid Lipase Deficiency
Wolman Xanthomatosis
Acid Lipase Disease
Wold
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Wolman Disease, also known as wolman's disease, is related to cholesteryl ester storage disease and hypercholesterolemia, familial, 1, and has symptoms including diarrhea and vomiting. An important gene associated with Wolman Disease is LIPA (Lipase A, Lysosomal Acid Type), and among its related pathways/superpathways are Metabolism and Transport of inorganic cations/anions and amino acids/oligopeptides. The drugs Cyclophosphamide and Busulfan have been mentioned in the context of this disorder. Affiliated tissues include liver and spleen, and related phenotypes are nausea and vomiting and global developmental delay
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
--
Unknown
1-9/1000000
23
165
78

Medical Symptom

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Categorization
Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
No data available

Gene & Mutation

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Mutations
No data available

Related Drugs

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CAS Number
Status
Phase
No data available

Disease Model

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Name
MGI
Related Gene
Strain of Origin
Publications
No data available

References Literature

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PMID
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IF
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