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DDD3
MCID: DWL005
MIFTS: 12

Dowling-Degos Disease 3 (DDD3)

Categories: Genetic diseases, Metabolic diseases, Rare diseases, Skin diseases
Genes Related diseases Publications Symptoms & Phenotypes
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Aliases & Classifications for Dowling-Degos Disease 3

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MalaCards integrated aliases for Dowling-Degos Disease 3:

Name: Dowling-Degos Disease 3 57 70
Ddd3 57

Characteristics:

OMIM®:

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


HPO:

31
dowling-degos disease 3:
Inheritance autosomal dominant inheritance


Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases Metabolic diseases
Anatomical: Skin diseases
See all MalaCards categories (disease lists)


External Ids:

OMIM® 57 615674
OMIM Phenotypic Series 57 PS179850
MedGen 41 C3810286
SNOMED-CT via HPO 68 263681008
UMLS 70 C3810286
Sources

Summaries for Dowling-Degos Disease 3

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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). Related phenotype is hyperpigmented/hypopigmented macules.

More information from OMIM: 615674 PS179850
Sources

Related Diseases for Dowling-Degos Disease 3

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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 10.9

Sources

Symptoms & Phenotypes for Dowling-Degos Disease 3

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Human phenotypes related to Dowling-Degos Disease 3:

31
# Description HPO Frequency HPO Source Accession
1 hyperpigmented/hypopigmented macules 31 HP:0007441

Symptoms via clinical synopsis from OMIM®:

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

Sources

Drugs & Therapeutics for Dowling-Degos Disease 3

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

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Genetic Tests for Dowling-Degos Disease 3

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Anatomical Context for Dowling-Degos Disease 3

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Publications for Dowling-Degos Disease 3

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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
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Variations for Dowling-Degos Disease 3

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Expression for Dowling-Degos Disease 3

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

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GO Terms for Dowling-Degos Disease 3

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Sources for Dowling-Degos Disease 3

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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
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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