Lipoid Proteinosis of Urbach and Wiethe (LIP)

Alias:
Lipoid Proteinosis
Urbach-Wiethe Disease
Hyalinosis Cutis Et Mucosae
Lipid Proteinosis
Urbach-Wiethe Lipoid Proteinosis
Lipoidosis Cutis Et Mucosae
Urbach-Wiethe Syndrome
Lipoglycoproteinosis
Proteinosis Lipoid
Lipoidproteinosis
Lipoproteinosis
Lip
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Lipoid Proteinosis of Urbach and Wiethe, also known as lipoid proteinosis, is related to postpartum depression and prosopagnosia, and has symptoms including hoarseness, seizures and thickened tongue. An important gene associated with Lipoid Proteinosis of Urbach and Wiethe is ECM1 (Extracellular Matrix Protein 1), and among its related pathways/superpathways is Vasopressin-like receptors. Affiliated tissues include skin and temporal lobe, and related phenotypes are thick lower lip vermilion and acne
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
All ages
--
12
118
57

Medical Symptom

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Description
HPO Frequency
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No data available

Gene & Mutation

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Related Drugs

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No data available

Disease Model

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Name
MGI
Related Gene
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Publications
No data available

References Literature

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