DDD3
MCID: DWL005
MIFTS: 13

Dowling-Degos Disease 3 (DDD3)

Categories: Genetic diseases, Metabolic diseases, Rare diseases, Skin diseases
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Aliases & Classifications for Dowling-Degos Disease 3

MalaCards integrated aliases for Dowling-Degos Disease 3:

Name: Dowling-Degos Disease 3 57 71
Ddd3 57

Characteristics:


Inheritance:

Autosomal dominant 57

Classifications:



External Ids:

OMIM® 57 615674
OMIM Phenotypic Series 57 PS179850
MedGen 40 C3810286
UMLS 71 C3810286

Summaries for Dowling-Degos Disease 3

MalaCards based summary: Dowling-Degos Disease 3, also known as ddd3, is related to dowling-degos disease. An important gene associated with Dowling-Degos Disease 3 is DDD3 (Dowling-Degos Disease 3). Affiliated tissues include skin, and related phenotype is hyperpigmented/hypopigmented macules.

More information from OMIM: 615674 PS179850

Related Diseases for Dowling-Degos Disease 3

Diseases in the Dowling-Degos Disease family:

Dowling-Degos Disease 1 Dowling-Degos Disease 2
Dowling-Degos Disease 3 Dowling-Degos Disease 4

Diseases related to Dowling-Degos Disease 3 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 dowling-degos disease 11.0

Symptoms & Phenotypes for Dowling-Degos Disease 3

Human phenotypes related to Dowling-Degos Disease 3:

30
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hyperpigmented/hypopigmented macules 30 HP:0007441

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
Skin Nails Hair Skin:
spotted and reticulate pigmentation of flexural areas of skin
brownish-black macules on dorsa of hands and feet (in some patients)

Clinical features from OMIM®:

615674 (Updated 08-Dec-2022)

Drugs & Therapeutics for Dowling-Degos Disease 3

Search Clinical Trials, NIH Clinical Center for Dowling-Degos Disease 3

Genetic Tests for Dowling-Degos Disease 3

Anatomical Context for Dowling-Degos Disease 3

Organs/tissues related to Dowling-Degos Disease 3:

MalaCards : Skin

Publications for Dowling-Degos Disease 3

Articles related to Dowling-Degos Disease 3:

# Title Authors PMID Year
1
A gene locus responsible for reticulate pigmented anomaly of the flexures maps to chromosome 17p13.3. 57
16575392 2006

Variations for Dowling-Degos Disease 3

Expression for Dowling-Degos Disease 3

Search GEO for disease gene expression data for Dowling-Degos Disease 3.

Pathways for Dowling-Degos Disease 3

GO Terms for Dowling-Degos Disease 3

Sources for Dowling-Degos Disease 3

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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