DDD4
MCID: DWL004
MIFTS: 21
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Dowling-Degos Disease 4 (DDD4)
Categories:
Genetic diseases, Metabolic diseases, Rare diseases, Skin diseases
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MalaCards integrated aliases for Dowling-Degos Disease 4:
Characteristics:Inheritance:
Autosomal dominant 57
Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Metabolic diseases Anatomical: Skin diseases |
UniProtKB/Swiss-Prot: 73 A form of Dowling-Degos disease, a genodermatosis manifesting with postpubertal reticulate hyperpigmentation that is progressive and disfiguring, and small hyperkeratotic dark brown papules that affect mainly the flexures and great skin folds. Patients usually show no abnormalities of the hair or nails. DDD4 is characterized by prominent involvement of non-flexural skin areas. MalaCards based summary: Dowling-Degos Disease 4, is also known as ddd4. An important gene associated with Dowling-Degos Disease 4 is POGLUT1 (Protein O-Glucosyltransferase 1). Affiliated tissues include skin, and related phenotypes are epidermal acanthosis and hypergranulosis |
Diseases in the Dowling-Degos Disease family:
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Human phenotypes related to Dowling-Degos Disease 4:30
Symptoms via clinical synopsis from OMIM®:57 (Updated 08-Dec-2022)Clinical features from OMIM®:615696 (Updated 08-Dec-2022) |
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Organs/tissues related to Dowling-Degos Disease 4:
MalaCards :
Skin
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Articles related to Dowling-Degos Disease 4:
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ClinVar genetic disease variations for Dowling-Degos Disease 4:5
UniProtKB/Swiss-Prot genetic disease variations for Dowling-Degos Disease 4:73
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Search
GEO
for disease gene expression data for Dowling-Degos Disease 4.
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