DDD4
MCID: DWL004
MIFTS: 21

Dowling-Degos Disease 4 (DDD4)

Categories: Genetic diseases, Metabolic diseases, Rare diseases, Skin diseases
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Aliases & Classifications for Dowling-Degos Disease 4

MalaCards integrated aliases for Dowling-Degos Disease 4:

Name: Dowling-Degos Disease 4 57 73 28 5 71
Ddd4 57 73
Disease, Dowling-Degos, Type 4 38

Characteristics:


Inheritance:

Autosomal dominant 57

OMIM®:

57 (Updated 08-Dec-2022)
Miscellaneous:
age of onset varies between 18 years and 53 years


Classifications:



External Ids:

OMIM® 57 615696
OMIM Phenotypic Series 57 PS179850
UMLS 71 C3810313

Summaries for Dowling-Degos Disease 4

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

More information from OMIM: 615696 PS179850

Related Diseases for Dowling-Degos Disease 4

Symptoms & Phenotypes for Dowling-Degos Disease 4

Human phenotypes related to Dowling-Degos Disease 4:

30
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 epidermal acanthosis 30 HP:0025092
2 hypergranulosis 30 HP:0025114

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
Skin Nails Hair Skin Histology:
acanthosis, mild
digitiform acanthosis of the rete ridges
pronounced hyperpigmentation at tips of rete ridges
small horn cysts
hypergranulosis, focal

Skin Nails Hair Skin:
brownish macular and lentiginous lesions, disseminated, present on extremities, trunk, and neck

Clinical features from OMIM®:

615696 (Updated 08-Dec-2022)

Drugs & Therapeutics for Dowling-Degos Disease 4

Search Clinical Trials, NIH Clinical Center for Dowling-Degos Disease 4

Genetic Tests for Dowling-Degos Disease 4

Genetic tests related to Dowling-Degos Disease 4:

# Genetic test Affiliating Genes
1 Dowling-Degos Disease 4 28 POGLUT1

Anatomical Context for Dowling-Degos Disease 4

Organs/tissues related to Dowling-Degos Disease 4:

MalaCards : Skin
ODiseA: Skin

Publications for Dowling-Degos Disease 4

Articles related to Dowling-Degos Disease 4:

# Title Authors PMID Year
1
Mutations in POGLUT1, encoding protein O-glucosyltransferase 1, cause autosomal-dominant Dowling-Degos disease. 57 5
24387993 2014
2
[Galli-Galli disease. Clinical and histopathological investigation using a case series of 18 patients]. 57 5
21971768 2011
3
Generalized solar lentigines in a patient with a history of radon exposure. 57 5
20664185 2010
4
Structure, function, and pathology of protein O-glucosyltransferases. 62
33436558 2021
5
Sequencing of 3-O sulfate containing heparin decasaccharides with a partial antithrombin III binding site. 62
10984531 2000

Variations for Dowling-Degos Disease 4

ClinVar genetic disease variations for Dowling-Degos Disease 4:

5
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 POGLUT1 NM_152305.3(POGLUT1):c.11G>A (p.Trp4Ter) SNV Pathogenic
126528 rs587777293 GRCh37: 3:119187879-119187879
GRCh38: 3:119469032-119469032
2 POGLUT1 NM_152305.3(POGLUT1):c.798-2A>C SNV Pathogenic
126530 rs587777295 GRCh37: 3:119209396-119209396
GRCh38: 3:119490549-119490549
3 POGLUT1 NM_152305.3(POGLUT1):c.835dup (p.Arg279fs) DUP Pathogenic
126531 rs587777296 GRCh37: 3:119209433-119209434
GRCh38: 3:119490586-119490587
4 POGLUT1 NM_152305.3(POGLUT1):c.835C>T (p.Arg279Trp) SNV Pathogenic
126532 rs587777297 GRCh37: 3:119209435-119209435
GRCh38: 3:119490588-119490588
5 POGLUT1 NM_152305.3(POGLUT1):c.652C>T (p.Arg218Ter) SNV Pathogenic
126529 rs587777294 GRCh37: 3:119205693-119205693
GRCh38: 3:119486846-119486846
6 POGLUT1 NM_152305.3(POGLUT1):c.456+39G>T SNV Benign
1235843 GRCh37: 3:119196334-119196334
GRCh38: 3:119477487-119477487
7 POGLUT1 NM_152305.3(POGLUT1):c.457-25G>A SNV Benign
1251162 GRCh37: 3:119198873-119198873
GRCh38: 3:119480026-119480026

UniProtKB/Swiss-Prot genetic disease variations for Dowling-Degos Disease 4:

73
# Symbol AA change Variation ID SNP ID
1 POGLUT1 p.Gly170Glu VAR_077954 rs1454300079
2 POGLUT1 p.Cys286Tyr VAR_077957

Expression for Dowling-Degos Disease 4

Search GEO for disease gene expression data for Dowling-Degos Disease 4.

Pathways for Dowling-Degos Disease 4

GO Terms for Dowling-Degos Disease 4

Sources for Dowling-Degos Disease 4

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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