Log In|Sign Up
ENLysosomal Acid Lipase Deficiency
Alias:
Lal Deficiency
Acid Lipase Deficiency
Primary Familial Xanthomatosis with Adrenal Calcification
Acid Cholesteryl Ester Hydrolase Deficiency, Type 2
Cholesterol Ester Storage Disease
Familial Visceral Xanthomatosis
Lysosomal and Lipase Deficiency
Primary Familial Xanthomatosis
Acid Esterase Deficiency
Familial Xanthomatosis
Lipa Deficiency
Wolman Disease
Favorite
Lysosomal Acid Lipase Deficiency, also known as lal deficiency, is related to cholesteryl ester storage disease and cholesterol ester storage disease, and has symptoms including diarrhea and vomiting. An important gene associated with Lysosomal Acid Lipase Deficiency 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 cognitive impairment
Related ID：
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
Medical Symptom
#
Categorization
Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
Gene & Mutation
#
Gene
Function
Score
Mutations
Related Drugs
Name
CAS Number
Status
Phase
Disease Model
Category
Name
MGI
Related Gene
Strain of Origin
Publications
References Literature
Title
PMID
Journal
Year
IF
