MCID: DWL004
MIFTS: 15

Dowling-Degos Disease 4

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

Aliases & Classifications for Dowling-Degos Disease 4

MalaCards integrated aliases for Dowling-Degos Disease 4:

Name: Dowling-Degos Disease 4 57 75 29 6 40 73
Ddd4 57 75

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

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


HPO:

32
dowling-degos disease 4:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 615696
SNOMED-CT via HPO 69 263681008
UMLS 73 C3810313

Summaries for Dowling-Degos Disease 4

UniProtKB/Swiss-Prot : 75 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). Affiliated tissues include skin, and related phenotype is epidermal acanthosis.

Description from OMIM: 615696

Related Diseases for Dowling-Degos Disease 4

Symptoms & Phenotypes for Dowling-Degos Disease 4

Symptoms via clinical synopsis from OMIM:

57
Skin Nails Hair Skin:
brownish macular and lentiginous lesions, disseminated, present on extremities, trunk, and neck

Skin Nails Hair Skin Histology:
digitiform acanthosis of the rete ridges
pronounced hyperpigmentation at tips of rete ridges
small horn cysts
acanthosis, mild
hypergranulosis, focal


Clinical features from OMIM:

615696

Human phenotypes related to Dowling-Degos Disease 4:

32
# Description HPO Frequency HPO Source Accession
1 epidermal acanthosis 32 HP:0025092

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

MalaCards organs/tissues related to Dowling-Degos Disease 4:

41
Skin

Publications for Dowling-Degos Disease 4

Variations for Dowling-Degos Disease 4

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

75
# Symbol AA change Variation ID SNP ID
1 POGLUT1 p.Gly170Glu VAR_077954
2 POGLUT1 p.Cys286Tyr VAR_077957

ClinVar genetic disease variations for Dowling-Degos Disease 4:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 POGLUT1 NM_152305.2(POGLUT1): c.11G> A (p.Trp4Ter) single nucleotide variant Pathogenic rs587777293 GRCh37 Chromosome 3, 119187879: 119187879
2 POGLUT1 NM_152305.2(POGLUT1): c.11G> A (p.Trp4Ter) single nucleotide variant Pathogenic rs587777293 GRCh38 Chromosome 3, 119469032: 119469032
3 POGLUT1 NM_152305.2(POGLUT1): c.652C> T (p.Arg218Ter) single nucleotide variant Pathogenic rs587777294 GRCh37 Chromosome 3, 119205693: 119205693
4 POGLUT1 NM_152305.2(POGLUT1): c.652C> T (p.Arg218Ter) single nucleotide variant Pathogenic rs587777294 GRCh38 Chromosome 3, 119486846: 119486846
5 POGLUT1 NM_152305.2(POGLUT1): c.798-2A> C single nucleotide variant Pathogenic rs587777295 GRCh37 Chromosome 3, 119209396: 119209396
6 POGLUT1 NM_152305.2(POGLUT1): c.798-2A> C single nucleotide variant Pathogenic rs587777295 GRCh38 Chromosome 3, 119490549: 119490549
7 POGLUT1 NM_152305.2(POGLUT1): c.835dupC (p.Arg279Profs) duplication Pathogenic rs587777296 GRCh37 Chromosome 3, 119209435: 119209435
8 POGLUT1 NM_152305.2(POGLUT1): c.835dupC (p.Arg279Profs) duplication Pathogenic rs587777296 GRCh38 Chromosome 3, 119490588: 119490588
9 POGLUT1 NM_152305.2(POGLUT1): c.835C> T (p.Arg279Trp) single nucleotide variant Pathogenic rs587777297 GRCh37 Chromosome 3, 119209435: 119209435
10 POGLUT1 NM_152305.2(POGLUT1): c.835C> T (p.Arg279Trp) single nucleotide variant Pathogenic rs587777297 GRCh38 Chromosome 3, 119490588: 119490588

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 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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