MCID: DWL001
MIFTS: 41

Dowling-Degos Disease malady

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

Aliases & Classifications for Dowling-Degos Disease

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Aliases & Descriptions for Dowling-Degos Disease:

Name: Dowling-Degos Disease 11 46 24 13 52 12 37 66
Reticular Pigment Anomaly of Flexures 11 46 24 52
Reticulate Acropigmentation of Kitamura 46 24 66
Dark Dot Disease 11 24
 
Kitamura Reticulate Acropigmentation 46
Dowling-Degos-Kitamura Disease 24
Dowling-Degos Kitamura Disease 46
Ddd 24

Characteristics:

Orphanet epidemiological data:

52
dowling-degos disease:
Inheritance: Autosomal dominant; Age of onset: Adolescent,Adult; Age of death: normal life expectancy

Classifications:



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Disease Ontology11 DOID:0060256
MeSH37 C562924
SNOMED-CT60 239133004
Orphanet52 ORPHA79145
ICD10 via Orphanet29 L81.8
UMLS66 C0406811, C3714534

Summaries for Dowling-Degos Disease

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NIH Rare Diseases:46 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 based summary: Dowling-Degos Disease, also known as reticular pigment anomaly of flexures, is related to dowling-degos disease 1 and darier disease, and has symptoms including pigmentation lip An important gene associated with Dowling-Degos Disease is POGLUT1 (Protein O-Glucosyltransferase 1), and among its related pathways are Dorso-ventral axis formation and Notch Signaling Pathways. Affiliated tissues include skin, and related mouse phenotypes are neoplasm and integument.

Disease Ontology:11 A pigmentation disease characterized by a reticulate pattern of abnormally dark skin coloring, particularly in the body's folds and creases.

Genetics Home Reference:24 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.

Related Diseases for Dowling-Degos Disease

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Diseases in the Dowling-Degos Disease family:

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

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

(show all 44)
idRelated DiseaseScoreTop Affiliating Genes
1dowling-degos disease 134.8KRT14, KRT5
2darier disease31.1KRT14, KRT5
3dyschromatosis symmetrica hereditaria30.2ADAR, PKLR, TYR
4dowling-degos disease 212.6
5dowling-degos disease 412.6
6dowling-degos disease 312.3
7dense deposit disease11.3
8c3 glomerulopathy11.3
9reticulate acropigmentation of kitamura11.1
10cardiomyopathy, hypertrophic, 1710.8MIR1825, POFUT1
11pachyonychia congenita 310.6KRT14, KRT5
12quinquaud's decalvans folliculitis10.6KRT14, KRT5
13epidermolytic acanthoma10.6KRT14, KRT5
14sed congenita10.6KRT14, KRT5
15autosomal recessive non-syndromic intellectual disability10.6ADAR, KRT5
16hemoglobin d disease10.6KRT14, KRT5
17benign intermediate mesothelioma10.6KRT14, KRT5
18gastric squamous cell carcinoma10.6KRT14, KRT5
19tenorio syndrome10.6DSC2, DSC3
20hidradenitis suppurativa10.6
21hidradenitis10.6
22female breast lower-inner quadrant cancer10.6KRT14, KRT5
23breast neuroendocrine neoplasm10.6KRT14, KRT5
24acute hydrops keratoconus10.5ADAR, POFUT1
25oligoastrocytoma10.5KRT14, KRT5
26epidermolysis bullosa simplex-mp10.5KRT14, KRT5
27bladder clear cell adenocarcinoma10.5KRT14, KRT5
28keratosis10.4
29gilbert syndrome10.4KRT14, KRT5
30papilloma10.4DSC2, DSC3
31water-clear cell adenoma10.3KRT14, KRT5
32papillary adenoma10.3KRT14, KRT5
33mirage syndrome10.3NOTCH1, NOTCH2
34arthritis10.2
35dyschromatosis universalis hereditaria10.2
36melanoma10.2
37keratoacanthoma10.2
38dyschromatosis universalis10.2
39anal margin carcinoma10.0KRT14, TYR
40mucocutaneous leishmaniasis10.0KRT14, NOTCH1
41connective tissue benign neoplasm10.0KRT14, KRT5
42breast liposarcoma10.0MRAP, NOTCH1
43alzheimer disease 189.8ADAM10, ADAR, DKC1, KRT14, POFUT1
44ptosis4.8ADAM10, ADAR, ATP2A2, DDD3, DKC1, DSC2

Graphical network of the top 20 diseases related to Dowling-Degos Disease:



Diseases related to dowling-degos disease

Symptoms for Dowling-Degos Disease

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UMLS symptoms related to Dowling-Degos Disease:


pigmentation lip

Drugs & Therapeutics for Dowling-Degos Disease

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Dowling-Degos Disease


Cochrane evidence based reviews: dowling-degos disease

Genetic Tests for Dowling-Degos Disease

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Anatomical Context for Dowling-Degos Disease

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MalaCards organs/tissues related to Dowling-Degos Disease:

34
Skin

Animal Models for Dowling-Degos Disease or affiliated genes

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MGI Mouse Phenotypes related to Dowling-Degos Disease:

39
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00020068.1ATP2A2, DKC1, KRT14, NOTCH1, NOTCH2, TYR
2MP:00107717.6ATP2A2, DKC1, DSC3, KRT14, KRT5, NOTCH1
3MP:00053807.5ADAM10, ADAR, ATP2A2, DKC1, NOTCH1, NOTCH2
4MP:00053857.4ADAM10, ADAR, ATP2A2, NOTCH1, NOTCH2, POFUT1
5MP:00053877.3ADAM10, ADAR, ATP2A2, DKC1, KRT14, NOTCH1
6MP:00053786.8ADAM10, ADAR, ATP2A2, DKC1, KRT14, KRT5
7MP:00107686.2ADAM10, ADAR, ATP2A2, DKC1, DSC3, KRT14

Publications for Dowling-Degos Disease

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Articles related to Dowling-Degos Disease:

(show top 50)    (show all 85)
idTitleAuthorsYear
1
Mutations in POGLUT1 in Galli-Galli/Dowling-Degos disease. (27479915)
2016
2
Dermatoscopic Features of Hyper and Hypopigmented Lesions of Dowling Degos Disease. (26955155)
2016
3
Pathogenicity of POFUT1 mutations in two Chinese families with Dowling-Degos disease. (26486618)
2015
4
Dowling-Degos disease and malignant melanoma: Association or mere coincidence? (26515850)
2015
5
Dowling-Degos disease with mutations in POFUT1 is clinico-pathologically distinct from reticulate acropigmentation of Kitamura. (25639155)
2015
6
Successful treatment of Dowling-Degos disease using intense pulsed light. (25495801)
2014
7
Pathogenicity of POFUT1 in Dowling-Degos Disease: Additional Mutations and Clinical Overlap with Reticulate Acropigmentation of Kitamura. (25229252)
2014
8
Dowling-Degos disease with diffuse penile pigmentation. (24422879)
2014
9
Association of Dowling-Degos disease and multiple seborrheic keratosis in a "Christmas tree pattern". (25405133)
2014
10
Dowling-Degos Disease Associated With Hidradenitis Suppurativa: A Case Report. (25529465)
2014
11
A case of reticulate acropigmentation of kitamura: dowling degos disease overlap with unusual clinical manifestations. (24891663)
2014
12
Analysis of POFUT1 gene mutation in a Chinese family with Dowling-Degos disease. (25157627)
2014
13
Mutations in POFUT1, encoding protein O-fucosyltransferase 1, cause generalized Dowling-Degos disease. (23684010)
2013
14
Generalized dowling-degos disease: case reports. (24003282)
2013
15
Dowling-Degos disease and hidradenitis suppurativa: Co occurrence or association? (23984231)
2013
16
A novel heterozygous nonsense mutation of keratin 5 in a Chinese family with Dowling-Degos disease. (21569119)
2012
17
Galli-Galli disease is an acantholytic variant of Dowling-Degos disease: additional genetic evidence in a German family. (22583733)
2012
18
Unique brown star shape on dermatoscopy of generalized Dowling-Degos disease. (21605106)
2011
19
Coexistence of reticulate acropigmentation of Kitamura and Dowling-Degos disease. (25386285)
2011
20
Galli-galli disease: a rare acantholytic variant of dowling-degos disease. (21629813)
2011
21
Coexistent Dowling-Degos disease and reticulate acropigmentation of kitamura with progressive seborrheic keratosis. (21416772)
2011
22
Dowling-Degos disease: case report and review of the literature. (20332593)
2010
23
Dowling-Degos disease. (20191141)
2010
24
Haber's syndrome may be a clinical entity different from Dowling-Degos disease. (19067693)
2009
25
Dermoscopy of Dowling-Degos disease of the vulva. (18347308)
2008
26
Galli-Galli disease is an acantholytic variant of Dowling-Degos disease. (17300252)
2007
27
A heterozygous frameshift mutation in the V1 domain of keratin 5 in a family with Dowling-Degos disease. (16917491)
2007
28
Spotted and rippled reticulate hypermelanosis: a possible variant of Dowling-Degos disease. (17199603)
2007
29
Dowling-Degos disease, hidradenitis suppurativa and arthritis in mother and daughter. (16681601)
2006
30
Atypical presentation of Dowling-Degos disease. (16987294)
2006
31
Dowling-Degos disease with dyschromatosis universalis hereditaria-like pigmentation in a family. (15482301)
2004
32
Treatment of Dowling-Degos disease with Er:YAG-laser: results after 2.5 years. (14641349)
2003
33
Dowling-Degos disease associated with squamous cell carcinomas on the dappled pigmentation. (12207603)
2002
34
Reticulate acropigmentation of Kitamura-Dowling Degos disease overlap: a case report. (12207773)
2002
35
Dowling-Degos disease--a heat aggravated variant. (11488720)
2001
36
Galli-Galli disease: an unrecognized entity or an acantholytic variant of Dowling-Degos disease? (11606930)
2001
37
Dowling-Degos disease affecting the vulva. (11501660)
2001
38
A case of Dowling-Degos disease suggesting an evolutional sequence. (11052235)
2000
39
Overlap of reticulate acropigmentation of Kitamura, acropigmentation of Dohi and Dowling-Degos disease in four generations. (9621148)
1998
40
Co-existence of leukoderma with features of Dowling-Degos disease: reticulate acropigmentation of Kitamura spectrum in five unrelated patients. (9529553)
1997
41
Dowling-Degos disease associated with hidradenitis suppurativa. (8959907)
1996
42
Dowling-degos disease. (20947961)
1996
43
Dowling-Degos disease and Kitamura's reticulate acropigmentation: support for the concept of a single disease. (1911300)
1991
44
Dowling-Degos disease, hidradenitis suppurativa, and multiple keratoacanthomas. A disorder that may be caused by a single underlying defect in pilosebaceous epithelial proliferation. (2050858)
1991
45
A family with Dowling Degos disease showing features of Kitamura's reticulate acropigmentation. (2713264)
1989
46
Haber's syndrome and Dowling-Degos disease. (2966131)
1988
47
The spectrum of Dowling-Degos disease. (6232941)
1984
48
The broad spectrum of Dowling Degos disease, including Haber's syndrome--a hereditary abnormal reactivity to stimulation, increasing with age?--Case reports and management. (6366012)
1983
49
Dowling-Degos disease (reticulate pigmented anomaly of the flexures) is an autosomal dominant condition. (6838773)
1983
50
Haber's syndrome or Dowling-Degos disease? (7065676)
1982

Variations for Dowling-Degos Disease

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Expression for genes affiliated with Dowling-Degos Disease

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

Pathways for genes affiliated with Dowling-Degos Disease

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Pathways related to Dowling-Degos Disease according to GeneCards Suite gene sharing:

idSuper pathwaysScoreTop Affiliating Genes
19.7NOTCH1, NOTCH2
29.5NOTCH1, NOTCH2, POFUT1
3
Show member pathways
9.4ADAM10, NOTCH1, NOTCH2
4
Show member pathways
9.4ADAM10, NOTCH1, NOTCH2
59.3ATP2A2, NOTCH1, NOTCH2
6
Show member pathways
9.2ADAM10, NOTCH1, NOTCH2, POFUT1
7
Show member pathways
8.9ATP2A2, NOTCH1, NOTCH2, POFUT1, POGLUT1
8
Show member pathways
8.6ADAM10, ATP2A2, NOTCH1, NOTCH2, POFUT1, POGLUT1

GO Terms for genes affiliated with Dowling-Degos Disease

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Cellular components related to Dowling-Degos Disease according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1desmosomeGO:003005710.2DSC2, DSC3
2Golgi-associated vesicleGO:000579810.2ADAM10, TYR
3membraneGO:00160207.6ADAM10, ADAR, ATP2A2, DSC3, HSPA8, KRT5

Biological processes related to Dowling-Degos Disease according to GeneCards Suite gene sharing:

(show all 11)
idNameGO IDScoreTop Affiliating Genes
1fucose metabolic processGO:000600410.5MIR1825, POFUT1
2protein O-linked fucosylationGO:003606610.4MIR1825, POFUT1
3regulation of Notch signaling pathwayGO:000859310.3NOTCH1, POGLUT1
4hemidesmosome assemblyGO:003158110.3KRT14, KRT5
5pulmonary valve morphogenesisGO:000318410.1NOTCH1, NOTCH2
6protein O-linked glycosylationGO:000649310.0MIR1825, POFUT1, POGLUT1
7positive regulation of viral genome replicationGO:004507010.0ADAR, NOTCH1
8tissue regenerationGO:004224610.0NOTCH1, NOTCH2
9Notch signaling involved in heart developmentGO:00613149.4NOTCH1, NOTCH2
10epidermis developmentGO:00085449.4ATP2A2, KRT14, KRT5, NOTCH1
11Notch signaling pathwayGO:00072199.0ADAM10, MIR1825, NOTCH1, NOTCH2, POFUT1

Molecular functions related to Dowling-Degos Disease according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1peptide-O-fucosyltransferase activityGO:004692210.7MIR1825, POFUT1
2fucosyltransferase activityGO:000841710.7MIR1825, POFUT1
3calcium ion bindingGO:00055098.7ATP2A2, DSC2, DSC3, NOTCH1, NOTCH2

Sources for Dowling-Degos Disease

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet