DDD
MCID: DWL001
MIFTS: 30

Dowling-Degos Disease (DDD) malady

Skin diseases category

Summaries for Dowling-Degos Disease

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21Genetics Home Reference, 42NIH Rare Diseases, 46OMIM, 32MalaCards
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NIH Rare Diseases:42 Dowling-degos disease is a skin condition characterized by a lacy or net-like (reticulate) pattern of abnormally dark skin coloring (hyperpigmentation), particularly in the body's folds and creases. other features may include dark lesions on the face and back that resemble blackheads, red bumps around the mouth that resemble acne, depressed or pitted scars on the face similar to acne scars but with no history of acne, cysts within hair follicles (pilar cysts) on the scalp, and rarely, patches of skin that are unusually light in color (hypopigmented). symptoms typically develop in late childhood or in adolescence and progress over time. while the skin changes caused by dowling-degos disease can be bothersome, they typically don't cause health problems. dowling-degos disease is caused by mutations in the krt5 gene. this condition is inherited in an autosomal dominant pattern. last updated: 2/4/2013

MalaCards: Dowling-Degos Disease, also known as reticulate acropigmentation of kitamura, is related to pigmentation disease and hidradenitis suppurativa. An important gene associated with Dowling-Degos Disease is ADAM10 (ADAM metallopeptidase domain 10). The compound retinoic acid have been mentioned in the context of this disorder. Affiliated tissues include skin, and related mouse phenotypes are digestive/alimentary and craniofacial.

Genetics Home Reference:21 Dowling-Degos disease is a skin condition characterized by a lacy or net-like (reticulate) pattern of abnormally dark skin coloring (hyperpigmentation), particularly in the body's folds and creases. These skin changes typically first appear in the armpits and groin area and can later spread to other skin folds such as the crook of the elbow and back of the knee. Less commonly, pigmentation changes can also occur on the wrist, back of the hand, face, scalp, scrotum (in males), and vulva (in females). These areas of hyperpigmentation do not darken with exposure to sunlight and cause no health problems.

Description from OMIM:46 615537

Aliases & Classifications for Dowling-Degos Disease

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42NIH Rare Diseases, 22GTR, 21Genetics Home Reference, 46OMIM, 48Orphanet, 60UMLS, 26ICD10 via Orphanet, 57SNOMED-CT via Orphanet, 61UMLS via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Anatomical: Skin diseases


Characteristics (Orphanet epidemiological data):

48
reticulate acropigmentation of kitamura:
Inheritance: Autosomal dominant; Prevalence: <1/1000000; Age of onset: Adolescence / Young adulthood


Aliases & Descriptions:

dowling-degos disease 42 21
reticulate acropigmentation of kitamura 42 22 21 46 48 60
reticular pigment anomaly of flexures 42 21
kitamura reticulate acropigmentation 42
dowling-degos kitamura disease 42
dowling-degos-kitamura disease 21
dark dot disease 21
rapk 48
ddd 21


External Ids:

OMIM46 615537
ICD10 via Orphanet26 L81.8
SNOMED-CT via Orphanet57 239133004
UMLS via Orphanet61 C0406811

Related Diseases for Dowling-Degos Disease

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17GeneCards, 18GeneDecks
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Graphical network of the top 20 diseases related to Dowling-Degos Disease:



Diseases related to dowling-degos disease

Clinical Features for Dowling-Degos Disease

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46OMIM
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Clinical features from OMIM:

615537

Clinical synopsis from OMIM:

615537

Drugs & Therapeutics for Dowling-Degos Disease

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

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Drug clinical trials:

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Genetic Tests for Dowling-Degos Disease

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22GTR
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Genetic tests related to Dowling-Degos Disease:

id Genetic test Affiliating Genes
1 Reticulate Acropigmentation of Kitamura22

Anatomical Context for Dowling-Degos Disease

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32MalaCards
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MalaCards organs/tissues related to Dowling-Degos Disease:

32
Skin

Animal Models for Dowling-Degos Disease or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Dowling-Degos Disease:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053819.1ADAM10, KRT5
2MP:00053828.8ADAM10, KRT5

Publications for Dowling-Degos Disease

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Genetic Variations for Dowling-Degos Disease

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Expression for genes affiliated with Dowling-Degos Disease

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Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Dowling-Degos Disease

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Pathways for genes affiliated with Dowling-Degos Disease

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Compounds for genes affiliated with Dowling-Degos Disease

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Sources:
44Novoseek, 24HMDB
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Compounds related to Dowling-Degos Disease according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1retinoic acid44 2410.1ADAM10, KRT5

GO Terms for genes affiliated with Dowling-Degos Disease

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Products for genes affiliated with Dowling-Degos Disease

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Dowling-Degos Disease

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet