Dowling-Degos Disease (DDD)

Alias:
Reticular Pigment Anomaly of Flexures
Dark Dot Disease
Reticulate Acropigmentation of Kitamura
Reticular Pigmented Anomaly of Flexures
Dowling-Degos-Kitamura Disease
Ddd
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Dowling-Degos Disease, also known as reticular pigment anomaly of flexures, is related to reticulate acropigmentation of kitamura and anal canal squamous cell carcinoma. An important gene associated with Dowling-Degos Disease is POFUT1 (Protein O-Fucosyltransferase 1), and among its related pathways/superpathways are Signal Transduction and O-linked glycosylation of mucins. Affiliated tissues include skin and liver, and related phenotypes are progressive reticulate hyperpigmentation and hyperkeratosis
Related ID:
MESH:C562924

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AD
Adolescent
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35
316
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Medical Symptom

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

Gene & Mutation

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Score
Mutations
No data available

Related Drugs

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CAS Number
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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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IF
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