DDD4
MCID: DWL004
MIFTS: 20

Dowling-Degos Disease 4 (DDD4)

Categories: Genetic diseases, Metabolic diseases, Rare diseases, Skin diseases

Aliases & Classifications for Dowling-Degos Disease 4

MalaCards integrated aliases for Dowling-Degos Disease 4:

Name: Dowling-Degos Disease 4 57 72 29 6 70
Ddd4 57 72
Disease, Dowling-Degos, Type 4 39

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal dominant

Miscellaneous:
age of onset varies between 18 years and 53 years


HPO:

31
dowling-degos disease 4:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM® 57 615696
OMIM Phenotypic Series 57 PS179850
SNOMED-CT via HPO 68 263681008
UMLS 70 C3810313

Summaries for Dowling-Degos Disease 4

UniProtKB/Swiss-Prot : 72 Dowling-Degos disease 4: 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). 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:

31
# Description HPO Frequency HPO Source Accession
1 epidermal acanthosis 31 HP:0025092
2 hypergranulosis 31 HP:0025114

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
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 05-Apr-2021)

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 29 POGLUT1

Anatomical Context for Dowling-Degos Disease 4

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 6
24387993 2014
2
[Galli-Galli disease. Clinical and histopathological investigation using a case series of 18 patients]. 6 57
21971768 2011
3
Generalized solar lentigines in a patient with a history of radon exposure. 6 57
20664185 2010
4
Structure, function, and pathology of protein O-glucosyltransferases. 61
33436558 2021
5
Sequencing of 3-O sulfate containing heparin decasaccharides with a partial antithrombin III binding site. 61
10984531 2000

Variations for Dowling-Degos Disease 4

ClinVar genetic disease variations for Dowling-Degos Disease 4:

6
# 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.652C>T (p.Arg218Ter) SNV Pathogenic 126529 rs587777294 GRCh37: 3:119205693-119205693
GRCh38: 3:119486846-119486846
3 POGLUT1 NM_152305.3(POGLUT1):c.798-2A>C SNV Pathogenic 126530 rs587777295 GRCh37: 3:119209396-119209396
GRCh38: 3:119490549-119490549
4 POGLUT1 NM_152305.3(POGLUT1):c.835dup (p.Arg279fs) Duplication Pathogenic 126531 rs587777296 GRCh37: 3:119209433-119209434
GRCh38: 3:119490586-119490587
5 POGLUT1 NM_152305.3(POGLUT1):c.835C>T (p.Arg279Trp) SNV Pathogenic 126532 rs587777297 GRCh37: 3:119209435-119209435
GRCh38: 3:119490588-119490588
6 POGLUT1 NM_152305.3(POGLUT1):c.394C>T (p.Arg132Ter) SNV Pathogenic 1029190 GRCh37: 3:119196233-119196233
GRCh38: 3:119477386-119477386

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

72
# Symbol AA change Variation ID SNP ID
1 POGLUT1 p.Gly170Glu VAR_077954 rs145430007
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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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