MCID: DWL001
MIFTS: 45

Dowling-Degos Disease malady

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

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 65
Reticular Pigment Anomaly of Flexures 10 45 23 51
Reticulate Acropigmentation of Kitamura 45 23 65
Dark Dot Disease 10 23
 
Kitamura Reticulate Acropigmentation 45
Dowling-Degos-Kitamura Disease 23
Dowling-Degos Kitamura Disease 45
Ddd 23

Characteristics:

Orphanet epidemiological data:

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

Classifications:



External Ids:

Disease Ontology10 DOID:0060256
MeSH36 C562924
SNOMED-CT59 239133004
Orphanet51 79145
ICD10 via Orphanet28 L81.8
UMLS65 C0406811, C3714534

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 pigmentation lip 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, breast and thyroid, and related mouse phenotypes are embryo and tumorigenesis.

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 all 45)
idRelated DiseaseScoreTop Affiliating Genes
1dowling-degos disease 134.8KRT14, KRT5
2dyschromatosis symmetrica hereditaria31.1ADAR, FRK
3dowling-degos disease 212.5
4dowling-degos disease 412.5
5dowling-degos disease 312.3
6dense deposit disease11.3
7c3 glomerulopathy11.3
8degos disease11.1
9reticulate acropigmentation of kitamura11.1
10pachyonychia congenita 310.7KRT14, KRT5
11pilar sheath acanthoma10.6KRT14, KRT5
12bile duct mucoepidermoid carcinoma10.6KRT14, KRT5
13epidermolysis bullosa simplex, weber-cockayne type10.6KRT14, KRT5
14female breast upper-inner quadrant cancer10.6KRT14, KRT5
15breast ductal carcinoma10.6KRT14, KRT5
16skin pilomatrix carcinoma10.6KRT14, KRT5
17megalocornea10.6ADAR, KRT5
18nasal cavity squamous cell carcinoma10.6KRT14, KRT5
19sebaceous adenocarcinoma10.6KRT14, KRT5
20epidermolysis bullosa simplex-mp10.6KRT14, KRT5
21hidradenitis suppurativa10.6
22hidradenitis10.6
23hypotrichosis and recurrent skin vesicles10.6DSC2, DSC3
24sed congenita10.6KRT14, KRT5
25strabismus10.5KRT14, KRT5
26ovarian clear cell adenocarcinoma10.5KRT14, KRT5
27skin atrophy10.5KRT14, KRT5
28keratosis10.4
29serous surface papilloma10.4DSC2, DSC3
30integumentary system cancer10.4KRT14, KRT5
31non 24 hour sleep wake disorder10.3NOTCH1, NOTCH2
32lymphoepithelioma-like carcinoma10.3KRT14, KRT5
33darier disease10.2
34arthritis10.2
35dyschromatosis universalis hereditaria10.2
36melanoma10.2
37keratoacanthoma10.2
38dyschromatosis universalis10.2
39variola minor10.2KRT14, NOTCH1
40dehydrated hereditary stomatocytosis pseudohyperkalemia and perinatal edema10.1ADAM10, DDD3, KRT5, POFUT1, POGLUT1
41colorectal adenomatous polyposis, autosomal recessive, with pilomatricomas10.0KRT14, KRT5
42alzheimer disease 189.9ADAM10, ADAR, FRK, KRT14, POFUT1
43corneal disease9.9ADAR, FRK, POFUT1, TYR
44gastric liposarcoma9.6MRAP, NOTCH1
45renal-hepatic-pancreatic dysplasia4.9ADAM10, ADAR, ATP2A2, DDD3, DSC2, DSC3

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

UMLS symptoms related to Dowling-Degos Disease:


pigmentation lip

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, Breast, Thyroid, Myeloid, Endothelial, Neutrophil, Monocytes

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:00053808.7ADAM10, ADAR, NOTCH1, NOTCH2, POFUT1, POGLUT1
2MP:00020068.6ATP2A2, FRK, KRT14, NOTCH1, NOTCH2, TYR
3MP:00107718.1ATP2A2, DSC3, KRT14, KRT5, NOTCH1, NOTCH2
4MP:00053857.6ADAM10, ADAR, ATP2A2, NOTCH1, NOTCH2, POFUT1
5MP:00053877.6ADAM10, ADAR, ATP2A2, KRT14, NOTCH1, NOTCH2
6MP:00053787.3ADAM10, ADAR, ATP2A2, KRT14, KRT5, NOTCH1
7MP:00107686.8ADAM10, ADAR, ATP2A2, DSC3, KRT14, KRT5

Publications for Dowling-Degos Disease

About this section

Articles related to Dowling-Degos Disease:

(show top 50)    (show all 84)
idTitleAuthorsYear
1
Atypical cases of Dowling-Degos disease. (27057490)
2016
2
Pathogenicity of POFUT1 mutations in two Chinese families with Dowling-Degos disease. (26486618)
2015
3
Dowling-Degos disease with mutations in POFUT1 is clinico-pathologically distinct from reticulate acropigmentation of Kitamura. (25639155)
2015
4
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
5
Successful treatment of Dowling-Degos disease using intense pulsed light. (25495801)
2014
6
Pathogenicity of POFUT1 in Dowling-Degos Disease: Additional Mutations and Clinical Overlap with Reticulate Acropigmentation of Kitamura. (25229252)
2014
7
Dowling-Degos disease with diffuse penile pigmentation. (24422879)
2014
8
Association of Dowling-Degos disease and multiple seborrheic keratosis in a "Christmas tree pattern". (25405133)
2014
9
Dowling-Degos Disease Associated With Hidradenitis Suppurativa: A Case Report. (25529465)
2014
10
A case of reticulate acropigmentation of kitamura: dowling degos disease overlap with unusual clinical manifestations. (24891663)
2014
11
The First Report of KRT5 Mutation Underlying Acantholytic Dowling-Degos Disease with Mottled Hypopigmentation in an Indian Family. (25284854)
2014
12
Mutations in POFUT1, encoding protein O-fucosyltransferase 1, cause generalized Dowling-Degos disease. (23684010)
2013
13
Treatment of Dowling-Degos disease with fractional Er:YAG laser. (23464495)
2013
14
Generalized dowling-degos disease: case reports. (24003282)
2013
15
A novel heterozygous nonsense mutation of keratin 5 in a Chinese family with Dowling-Degos disease. (21569119)
2012
16
Presentation of reticulate acropigmentation of kitamura and dowling-degos disease overlap. (22808308)
2012
17
Galli-galli disease: a rare acantholytic variant of dowling-degos disease. (21629813)
2011
18
Coexistent Dowling-Degos disease and reticulate acropigmentation of kitamura with progressive seborrheic keratosis. (21416772)
2011
19
Dowling-Degos disease involving the vulva and back: case report and review of the literature. (21810386)
2011
20
Dowling-Degos disease: classic clinical and histopathological presentation. (22147038)
2011
21
Unique brown star shape on dermatoscopy of generalized Dowling-Degos disease. (21605106)
2011
22
Dowling-Degos disease presenting as hypopigmented macules. (21571208)
2011
23
Dowling-Degos disease. (20191141)
2010
24
Haber's syndrome may be a clinical entity different from Dowling-Degos disease. (19067693)
2009
25
Three cases of Dowling Degos disease in two families. (19584468)
2009
26
Dermoscopy of Dowling-Degos disease of the vulva. (18347308)
2008
27
Spotted and rippled reticulate hypermelanosis: a possible variant of Dowling-Degos disease. (17199603)
2007
28
Galli-Galli disease is an acantholytic variant of Dowling-Degos disease. (17300252)
2007
29
Dowling-Degos disease with asymmetrical axillary distribution and no KRT 5 exon 1 mutation. (17989904)
2007
30
A heterozygous frameshift mutation in the V1 domain of keratin 5 in a family with Dowling-Degos disease. (16917491)
2007
31
Atypical presentation of Dowling-Degos disease. (16987294)
2006
32
Dowling-Degos disease with dyschromatosis universalis hereditaria-like pigmentation in a family. (15482301)
2004
33
Treatment of Dowling-Degos disease with Er:YAG-laser: results after 2.5 years. (14641349)
2003
34
Reticulate acropigmentation of Kitamura-Dowling Degos disease overlap: a case report. (12207773)
2002
35
Successful treatment of Dowling-Degos disease with Er:YAG laser. (12174072)
2002
36
Dowling-Degos disease associated with squamous cell carcinomas on the dappled pigmentation. (12207603)
2002
37
Dowling-Degos disease--a heat aggravated variant. (11488720)
2001
38
Galli-Galli disease: an unrecognized entity or an acantholytic variant of Dowling-Degos disease? (11606930)
2001
39
Dowling-Degos disease affecting the vulva. (11501660)
2001
40
A case of Dowling-Degos disease suggesting an evolutional sequence. (11052235)
2000
41
Evolution of Dowling Degos disease. (11211801)
2000
42
Dowling-degos disease. (20947961)
1996
43
Dowling-Degos disease associated with hidradenitis suppurativa. (8959907)
1996
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

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 pathwaysScoreTop Affiliating Genes
110.1POFUT1, POGLUT1
29.7NOTCH1, NOTCH2
39.5NOTCH1, NOTCH2, POFUT1
4
Show member pathways
9.5ADAM10, NOTCH1, NOTCH2
5
Show member pathways
9.5ADAM10, NOTCH1, NOTCH2
69.3ATP2A2, NOTCH1, NOTCH2
7
Show member pathways
9.3ADAM10, NOTCH1, NOTCH2, POFUT1
8
Show member pathways
8.9ATP2A2, NOTCH1, NOTCH2, POFUT1, POGLUT1
9
Show member pathways
8.7ADAM10, ATP2A2, 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
1keratin filamentGO:004509510.0KRT14, KRT5

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

(show all 8)
idNameGO IDScoreTop Affiliating Genes
1hemidesmosome assemblyGO:003158110.4KRT14, KRT5
2regulation of Notch signaling pathwayGO:000859310.1NOTCH1, POGLUT1
3Notch signaling involved in heart developmentGO:006131410.0NOTCH1, NOTCH2
4positive regulation of viral genome replicationGO:004507010.0ADAR, NOTCH1
5pulmonary valve morphogenesisGO:00031849.9NOTCH1, NOTCH2
6regulation of developmental processGO:00507939.9NOTCH1, NOTCH2
7Notch signaling pathwayGO:00072199.3ADAM10, NOTCH1, NOTCH2, POFUT1
8Notch receptor processingGO:00072209.2ADAM10, NOTCH1, NOTCH2

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