MCID: DWL001
MIFTS: 41

Dowling-Degos Disease malady

Genetic diseases, Rare diseases, Skin diseases, Metabolic diseases categories

Aliases & Classifications for Dowling-Degos Disease

About this section

Aliases & Descriptions for Dowling-Degos Disease:

Name: Dowling-Degos Disease 10 11 45 23 12 51 36
Reticular Pigment Anomaly of Flexures 10 45 23 51
Reticulate Acropigmentation of Kitamura 45 23 65
Dark Dot Disease 10 23
Hyperpigmentation, Familial Progressive 65
 
Kitamura Reticulate Acropigmentation 45
Dowling-Degos Kitamura Disease 45
Dowling-Degos-Kitamura Disease 23
Melanosis, Universal 65
Ddd 23


Classifications:



Characteristics (Orphanet epidemiological data):

51
dowling-degos disease:
Inheritance: Autosomal dominant; Age of onset: Adolescent,Adult; Age of death: normal life expectancy


External Ids:

Disease Ontology10 DOID:0060256
MeSH36 C562924
Orphanet51 79145
ICD10 via Orphanet28 L81.8

Summaries for Dowling-Degos Disease

About this section
NIH Rare Diseases:45 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 dyschromatosis symmetrica hereditaria, and has symptoms including autosomal dominant inheritance, infantile onset and generalized hyperpigmentation. An important gene associated with Dowling-Degos Disease is POGLUT1 (Protein O-Glucosyltransferase 1), and among its related pathways are Other types of O-glycan biosynthesis and Dorso-ventral axis formation. Affiliated tissues include skin, and related mouse phenotypes are pigmentation and embryogenesis.

Disease Ontology:10 A pigmentation disease characterized by a reticulate pattern of abnormally dark skin coloring, particularly in the body's folds and creases.

Genetics Home Reference:23 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

About this section

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 top 50)    (show all 127)
idRelated DiseaseScoreTop Affiliating Genes
1dowling-degos disease 131.6ADAM10, KRT5
2dyschromatosis symmetrica hereditaria30.8ADAR, FRK
3degos disease11.3
4reticulate acropigmentation of kitamura10.8
5dowling-degos disease 210.8
6dowling-degos disease 410.7
7hidradenitis suppurativa10.7
8hidradenitis10.7
9dowling-degos disease 310.6
10keratosis10.6
11degenerative disc disease10.5
12intervertebral disc disease10.5
13secondary syphilis10.5
14bone structure disease10.5
15pain disorder10.4
16arthritis10.3
17dyschromatosis universalis hereditaria10.3
18keratoacanthoma10.3
19melanoma10.3
20dyschromatosis universalis10.3
21dense deposit disease10.3
22cerebral degeneration10.3
23factitious disorder10.3
24epm2a-related lafora disease10.3KRT14, KRT5
25epidermolysis bullosa simplex, recessive 110.3KRT14, KRT5
26epidermolysis bullosa simplex-mp10.3KRT14, KRT5
27pilar sheath acanthoma10.3KRT14, KRT5
28lichen planus pemphigoides10.3KRT14, KRT5
29neurohypophysis granular cell tumor10.2ADAR, KRT5
30epidermolysis bullosa simplex, weber-cockayne type10.2KRT14, KRT5
31hallucinogen dependence10.2KRT14, KRT5
32sick sinus syndrome10.2
33adrenocortical carcinoma10.2
34back pain10.2
35sed congenita10.2KRT14, KRT5
36bronchial disease10.2KRT14, KRT5
37epidermolysis bullosa simplex, dowling-meara type10.2KRT14, KRT5
38kidney cortex necrosis10.2KRT14, KRT5
39vaginal adenosarcoma10.2KRT14, KRT5
40hypotrichosis and recurrent skin vesicles10.2DSC2, DSC3
41odontoma dysphagia syndrome10.2KRT14, KRT5
42steatitis10.2KRT14, KRT5
43spondylolisthesis10.2
44spondylosis10.2
45spondylolysis10.2
46atrial fibrillation10.2
47atrioventricular block10.2
48nasal cavity disease10.2
49paranasal sinus disease10.2
50anus rhabdomyosarcoma10.2KRT14, KRT5

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



Diseases related to dowling-degos disease

Symptoms for Dowling-Degos Disease

About this section

HPO human phenotypes related to Dowling-Degos Disease:

id Description Frequency HPO Source Accession
1 autosomal dominant inheritance HP:0000006
2 infantile onset HP:0003593
3 generalized hyperpigmentation HP:0007440

Drugs & Therapeutics for Dowling-Degos Disease

About this section

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

About this section

Anatomical Context for Dowling-Degos Disease

About this section

MalaCards organs/tissues related to Dowling-Degos Disease:

33
Skin

Animal Models for Dowling-Degos Disease or affiliated genes

About this section

MGI Mouse Phenotypes related to Dowling-Degos Disease:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00011869.2KRT14, NOTCH1, NOTCH2, TYR
2MP:00053808.1ADAM10, ADAR, NOTCH1, NOTCH2, POFUT1, POGLUT1
3MP:00107718.1DSC3, KRT14, KRT5, NOTCH1, NOTCH2, POFUT1
4MP:00107686.8ADAM10, ADAR, DSC3, KRT14, KRT5, NOTCH1

Publications for Dowling-Degos Disease

About this section

Articles related to Dowling-Degos Disease:

(show top 50)    (show all 80)
idTitleAuthorsYear
1
Pathogenicity of POFUT1 mutations in two Chinese families with Dowling-Degos disease. (26486618)
2015
2
Dowling-Degos disease with mutations in POFUT1 is clinico-pathologically distinct from reticulate acropigmentation of Kitamura. (25639155)
2015
3
Genome-wide linkage and exome sequencing analyses identify a initiation codon mutation of KRT5 in a unique Chinese generalized Dowling-Degos disease family. (26440693)
2015
4
Successful treatment of Dowling-Degos disease using intense pulsed light. (25495801)
2014
5
Pathogenicity of POFUT1 in Dowling-Degos Disease: Additional Mutations and Clinical Overlap with Reticulate Acropigmentation of Kitamura. (25229252)
2014
6
Dowling-Degos disease with diffuse penile pigmentation. (24422879)
2014
7
Association of Dowling-Degos disease and multiple seborrheic keratosis in a "Christmas tree pattern". (25405133)
2014
8
Dowling-Degos Disease Associated With Hidradenitis Suppurativa: A Case Report. (25529465)
2014
9
A case of reticulate acropigmentation of kitamura: dowling degos disease overlap with unusual clinical manifestations. (24891663)
2014
10
The First Report of KRT5 Mutation Underlying Acantholytic Dowling-Degos Disease with Mottled Hypopigmentation in an Indian Family. (25284854)
2014
11
Mutations in POFUT1, encoding protein O-fucosyltransferase 1, cause generalized Dowling-Degos disease. (23684010)
2013
12
Treatment of Dowling-Degos disease with fractional Er:YAG laser. (23464495)
2013
13
Generalized dowling-degos disease: case reports. (24003282)
2013
14
A novel heterozygous nonsense mutation of keratin 5 in a Chinese family with Dowling-Degos disease. (21569119)
2012
15
Presentation of reticulate acropigmentation of kitamura and dowling-degos disease overlap. (22808308)
2012
16
Galli-galli disease: a rare acantholytic variant of dowling-degos disease. (21629813)
2011
17
Coexistent Dowling-Degos disease and reticulate acropigmentation of kitamura with progressive seborrheic keratosis. (21416772)
2011
18
Dowling-Degos disease involving the vulva and back: case report and review of the literature. (21810386)
2011
19
Dowling-Degos disease: classic clinical and histopathological presentation. (22147038)
2011
20
Unique brown star shape on dermatoscopy of generalized Dowling-Degos disease. (21605106)
2011
21
Dowling-Degos disease presenting as hypopigmented macules. (21571208)
2011
22
Dowling-Degos disease. (20191141)
2010
23
Haber's syndrome may be a clinical entity different from Dowling-Degos disease. (19067693)
2009
24
Three cases of Dowling Degos disease in two families. (19584468)
2009
25
Dermoscopy of Dowling-Degos disease of the vulva. (18347308)
2008
26
Spotted and rippled reticulate hypermelanosis: a possible variant of Dowling-Degos disease. (17199603)
2007
27
Galli-Galli disease is an acantholytic variant of Dowling-Degos disease. (17300252)
2007
28
Dowling-Degos disease with asymmetrical axillary distribution and no KRT 5 exon 1 mutation. (17989904)
2007
29
A heterozygous frameshift mutation in the V1 domain of keratin 5 in a family with Dowling-Degos disease. (16917491)
2007
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
Reticulate acropigmentation of Kitamura-Dowling Degos disease overlap: a case report. (12207773)
2002
34
Successful treatment of Dowling-Degos disease with Er:YAG laser. (12174072)
2002
35
Dowling-Degos disease associated with squamous cell carcinomas on the dappled pigmentation. (12207603)
2002
36
Dowling-Degos disease--a heat aggravated variant. (11488720)
2001
37
Galli-Galli disease: an unrecognized entity or an acantholytic variant of Dowling-Degos disease? (11606930)
2001
38
Dowling-Degos disease affecting the vulva. (11501660)
2001
39
A case of Dowling-Degos disease suggesting an evolutional sequence. (11052235)
2000
40
Evolution of Dowling Degos disease. (11211801)
2000
41
Dowling-degos disease. (20947961)
1996
42
Dowling-Degos disease associated with hidradenitis suppurativa. (8959907)
1996
43
Dowling-Degos' disease mimicking chloracne. (1387658)
1992
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
Is Dowling-Degos disease the same disease as Kitamura's reticulate acropigmentation? (6860566)
1983
50
Haber's syndrome or Dowling-Degos disease? (6847213)
1983

Variations for Dowling-Degos Disease

About this section

Clinvar genetic disease variations for Dowling-Degos Disease:

5
id Gene Variation Type Significance SNP ID Assembly Location
1POGLUT1NM_152305.2(POGLUT1): c.11G> A (p.Trp4Ter)single nucleotide variantPathogenicrs587777293GRCh37Chr 3, 119187879: 119187879
2POGLUT1NM_152305.2(POGLUT1): c.652C> T (p.Arg218Ter)single nucleotide variantPathogenicrs587777294GRCh37Chr 3, 119205693: 119205693
3POGLUT1NM_152305.2(POGLUT1): c.798-2A> Csingle nucleotide variantPathogenicrs587777295GRCh37Chr 3, 119209396: 119209396
4POGLUT1NM_152305.2(POGLUT1): c.835dupC (p.Arg279Profs)duplicationPathogenicrs587777296GRCh37Chr 3, 119209435: 119209435
5POGLUT1NM_152305.2(POGLUT1): c.835C> T (p.Arg279Trp)single nucleotide variantPathogenicrs587777297GRCh37Chr 3, 119209435: 119209435
6KRT5KRT5, 1-BP DUP, 418AduplicationPathogenic
7POFUT1NM_015352.1(POFUT1): c.430G> T (p.Glu144Ter)single nucleotide variantPathogenicrs398123038GRCh37Chr 20, 30804412: 30804412
8POFUT1POFUT1, 1-BP DEL, 482AdeletionPathogenic

Expression for genes affiliated with Dowling-Degos Disease

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

Pathways for genes affiliated with Dowling-Degos Disease

About this section

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

idSuper pathways (with members indented)ScoreTop Affiliating Genes
110.0POFUT1, POGLUT1
29.7NOTCH1, NOTCH2
39.5NOTCH1, NOTCH2, POFUT1
4
Notch signaling pathway (Pathway Interaction Database)
Show member pathways
9.5NOTCH1, NOTCH2, POFUT1
5
Show member pathways
9.5ADAM10, NOTCH1, NOTCH2
6
Show member pathways
9.3NOTCH1, NOTCH2, POFUT1, POGLUT1
7
Notch signaling pathway (KEGG)
Show member pathways
9.2NOTCH1, NOTCH2, POFUT1, POGLUT1
8
Show member pathways
9.0ADAM10, NOTCH1, NOTCH2, POFUT1, POGLUT1

GO Terms for genes affiliated with Dowling-Degos Disease

About this section

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

idNameGO IDScoreTop Affiliating Genes
1Golgi-associated vesicleGO:000579810.3ADAM10, TYR
2desmosomeGO:003005710.1DSC2, DSC3
3keratin filamentGO:004509510.0KRT14, KRT5, KRTAP11-1
4membraneGO:00160207.6ADAM10, ADAR, DSC2, DSC3, HSPA8, KRT5

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

(show all 9)
idNameGO IDScoreTop Affiliating Genes
1regulation of developmental processGO:005079310.2NOTCH1, NOTCH2
2Notch signaling involved in heart developmentGO:006131410.2NOTCH1, NOTCH2
3pulmonary valve morphogenesisGO:000318410.1NOTCH1, NOTCH2
4regulation of Notch signaling pathwayGO:000859310.1NOTCH1, POGLUT1
5Notch receptor processingGO:00072209.9ADAM10, NOTCH1, NOTCH2
6hemidesmosome assemblyGO:00315819.8KRT14, KRT5
7epidermis developmentGO:00085449.6KRT14, KRT5, NOTCH1
8in utero embryonic developmentGO:00017019.2ADAM10, ADAR, DSC3, NOTCH1
9Notch signaling pathwayGO:00072199.2ADAM10, NOTCH1, NOTCH2, POFUT1, POGLUT1

Sources for Dowling-Degos Disease

About this section
2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet