Cholestasis-Lymphedema Syndrome (LCS)

Alias:
Aagenaes Syndrome
Cholestasis-Edema Syndrome, Norwegian Type
Lymphedema-Cholestasis Syndrome
Chls
Lcs
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Cholestasis-Lymphedema Syndrome, also known as aagenaes syndrome, is related to hereditary lymphedema i and hereditary lymphedema, and has symptoms including icterus An important gene associated with Cholestasis-Lymphedema Syndrome is LCS1 (Lymphedema-Cholestasis Syndrome 1), and among its related pathways/superpathways are Metabolism of steroids and Synthesis of bile acids and bile salts. Affiliated tissues include skin and liver, and related phenotypes are nausea and vomiting and hepatomegaly
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
Newborn
<1/1000000
8
41
7

Medical Symptom

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Description
HPO Frequency
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HPO Source Accession
No data available

Gene & Mutation

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Related Drugs

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Disease Model

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MGI
Related Gene
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Publications
No data available

References Literature

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