Lecithin:cholesterol Acyltransferase Deficiency (LCATD)

Alias:
Norum Disease
Lcat Deficiency
Lecithin Cholesterol Acyltransferase Deficiency
Familial Lcat Deficiency
Fld
Lecithin Acyltransferase Deficiency
Complete Lcat Deficiency
Lecithin-Cholesterol Acyltransferase Deficiency
Familial Lecithin-Cholesterol Acyltransferase Deficiency
Deficiency, Lecithin:cholesterol Acyltransferase
Norum's Disease
Lcatd
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Lecithin:cholesterol Acyltransferase Deficiency, also known as norum disease, is related to fish-eye disease and metabolic dysfunction-associated steatotic liver disease. An important gene associated with Lecithin:cholesterol Acyltransferase Deficiency is LCAT (Lecithin-Cholesterol Acyltransferase), and among its related pathways/superpathways are Transport of inorganic cations/anions and amino acids/oligopeptides and Olfactory Signaling Pathway. The drugs Hydrocortisone and Hydrocortisone acetate have been mentioned in the context of this disorder. Affiliated tissues include eye and kidney, and related phenotypes are hypertriglyceridemia and decreased hdl cholesterol concentration
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
All ages
<1/1000000
11
106
39

Medical Symptom

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

Gene & Mutation

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Gene
Function
Score
Mutations
No data available

Related Drugs

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CAS Number
Status
Phase
No data available

Disease Model

Category
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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