MCID: DWL001
MIFTS: 39

Dowling-Degos Disease malady

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

Aliases & Classifications for Dowling-Degos Disease

About this section

Dowling-Degos Disease, Aliases & Descriptions:

Name: Dowling-Degos Disease 9 10 41 21 47
Reticular Pigment Anomaly of Flexures 9 41 21 47
Reticulate Acropigmentation of Kitamura 41 21 60
Familial Progressive Hyperpigmentation 41 47
Melanosis Universalis Hereditaria 41 47
Melanosis Diffusa Congenita 41 47
Universal Melanosis 41 47
Dark Dot Disease 9 21
 
Hyperpigmentation, Familial Progressive 60
Kitamura Reticulate Acropigmentation 41
Dowling-Degos Kitamura Disease 41
Dowling-Degos-Kitamura Disease 21
Melanosis, Universal 60
Rapk 41
Ddd 21


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases, Metabolic diseases
Anatomical: Skin diseases


Characteristics (Orphanet epidemiological data):

47
familial progressive hyperpigmentation:
Inheritance: Autosomal dominant
dowling-degos disease:
Inheritance: Autosomal dominant; Age of onset: Adolescent,Adult; Age of death: normal life expectancy


External Ids:

Disease Ontology9 DOID:0060256
MeSH33 C562924
Orphanet47 79146, 79145
ICD10 via Orphanet26 L81.4, L81.8

Summaries for Dowling-Degos Disease

About this section


NIH Rare Diseases:41 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 2 and degos disease, and has symptoms including autosomal dominant inheritance, infantile onset and generalized hyperpigmentation. An important gene associated with Dowling-Degos Disease is KRT5 (keratin 5), and among its related pathways are Other types of O-glycan biosynthesis and Pre-NOTCH Expression and Processing. The compounds histidine and retinoic acid have been mentioned in the context of this disorder. Affiliated tissues include skin, and related mouse phenotypes are limbs/digits/tail and craniofacial.

Disease Ontology:9 A pigmentation disease characterized by a reticulate pattern of abnormally dark skin coloring, particularly in the body's folds and creases.

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.

Related Diseases for Dowling-Degos Disease

About this section

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

Drug clinical trials:

Search ClinicalTrials for Dowling-Degos Disease

Search NIH Clinical Center for 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:

31
Skin

Animal Models for Dowling-Degos Disease or affiliated genes

About this section

MGI Mouse Phenotypes related to Dowling-Degos Disease:

35
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053718.8POFUT1, KITLG, KRT5
2MP:00053828.6KRT5, KITLG, ADAM10
3MP:00053818.3KRT5, KITLG, ADAM10
4MP:00053808.2KITLG, ADAM10, POGLUT1, POFUT1
5MP:00053858.2KITLG, ADAM10, POGLUT1, POFUT1
6MP:00053788.1KITLG, ADAM10, POGLUT1, POFUT1
7MP:00036318.0POFUT1, POGLUT1, ADAM10, KITLG
8MP:00107687.8POFUT1, POGLUT1, ADAM10, KITLG, KRT5

Publications for Dowling-Degos Disease

About this section

Articles related to Dowling-Degos Disease:

(show top 50)    (show all 77)
idTitleAuthorsYear
1
Dowling-Degos disease with mutations in POFUT1 is clinico-pathologically distinct from reticulate acropigmentation of Kitamura. (25639155)
2015
2
Successful treatment of Dowling-Degos disease using intense pulsed light. (25495801)
2014
3
Pathogenicity of POFUT1 in Dowling-Degos Disease: Additional Mutations and Clinical Overlap with Reticulate Acropigmentation of Kitamura. (25229252)
2014
4
Dowling-Degos disease with diffuse penile pigmentation. (24422879)
2014
5
Association of Dowling-Degos disease and multiple seborrheic keratosis in a "Christmas tree pattern". (25405133)
2014
6
Dowling-Degos Disease Associated With Hidradenitis Suppurativa: A Case Report. (25529465)
2014
7
A case of reticulate acropigmentation of kitamura: dowling degos disease overlap with unusual clinical manifestations. (24891663)
2014
8
The First Report of KRT5 Mutation Underlying Acantholytic Dowling-Degos Disease with Mottled Hypopigmentation in an Indian Family. (25284854)
2014
9
Mutations in POFUT1, encoding protein O-fucosyltransferase 1, cause generalized Dowling-Degos disease. (23684010)
2013
10
Treatment of Dowling-Degos disease with fractional Er:YAG laser. (23464495)
2013
11
Generalized dowling-degos disease: case reports. (24003282)
2013
12
A novel heterozygous nonsense mutation of keratin 5 in a Chinese family with Dowling-Degos disease. (21569119)
2012
13
Presentation of reticulate acropigmentation of kitamura and dowling-degos disease overlap. (22808308)
2012
14
Galli-galli disease: a rare acantholytic variant of dowling-degos disease. (21629813)
2011
15
Coexistent Dowling-Degos disease and reticulate acropigmentation of kitamura with progressive seborrheic keratosis. (21416772)
2011
16
Dowling-Degos disease involving the vulva and back: case report and review of the literature. (21810386)
2011
17
Dowling-Degos disease: classic clinical and histopathological presentation. (22147038)
2011
18
Unique brown star shape on dermatoscopy of generalized Dowling-Degos disease. (21605106)
2011
19
Dowling-Degos disease presenting as hypopigmented macules. (21571208)
2011
20
Dowling-Degos disease. (20191141)
2010
21
Case for diagnosis. Dowling-Degos disease. (20520945)
2010
22
Haber's syndrome may be a clinical entity different from Dowling-Degos disease. (19067693)
2009
23
Three cases of Dowling Degos disease in two families. (19584468)
2009
24
Dermoscopy of Dowling-Degos disease of the vulva. (18347308)
2008
25
Spotted and rippled reticulate hypermelanosis: a possible variant of Dowling-Degos disease. (17199603)
2007
26
Galli-Galli disease is an acantholytic variant of Dowling-Degos disease. (17300252)
2007
27
Dowling-Degos disease with asymmetrical axillary distribution and no KRT 5 exon 1 mutation. (17989904)
2007
28
A heterozygous frameshift mutation in the V1 domain of keratin 5 in a family with Dowling-Degos disease. (16917491)
2007
29
Atypical presentation of Dowling-Degos disease. (16987294)
2006
30
Loss-of-function mutations in the keratin 5 gene lead to Dowling- Degos disease. (16465624)
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:

6 (show all 14)
id Gene Variation Type Significance SNP ID Assembly Location
1POGLUT1NM_152305.2(POGLUT1): c.11G> A (p.Trp4Ter)single nucleotide variantPathogenicGRCh37Chr 3, 119187879: 119187879
2POGLUT1NM_152305.2(POGLUT1): c.652C> T (p.Arg218Ter)single nucleotide variantPathogenicGRCh37Chr 3, 119205693: 119205693
3POGLUT1NM_152305.2(POGLUT1): c.798-2A> Csingle nucleotide variantPathogenicGRCh37Chr 3, 119209396: 119209396
4POGLUT1NM_152305.2(POGLUT1): c.835dupC (p.Arg279Profs)duplicationPathogenicGRCh37Chr 3, 119209435: 119209435
5POGLUT1NM_152305.2(POGLUT1): c.835C> T (p.Arg279Trp)single nucleotide variantPathogenicGRCh37Chr 3, 119209435: 119209435
6KRT5NM_000424.3(KRT5): c.14C> A (p.Ser5Ter)single nucleotide variantPathogenicrs58751565GRCh37Chr 12, 52914067: 52914067
7KRT5KRT5, 1-BP DUP, 418AduplicationPathogenic
8POFUT1NM_015352.1(POFUT1): c.430G> T (p.Glu144Ter)single nucleotide variantPathogenicrs398123038GRCh37Chr 20, 30804412: 30804412
9POFUT1POFUT1, 1-BP DEL, 482AdeletionPathogenic
10ADAM10NM_001110.3(ADAM10): c.415C> T (p.Pro139Ser)single nucleotide variantPathogenicrs483352912GRCh37Chr 15, 58971392: 58971392
11ADAM10NM_001110.3(ADAM10): c.1511G> A (p.Ser504Asn)single nucleotide variantPathogenicrs483352913GRCh37Chr 15, 58913670: 58913670
12ADAM10NM_001110.3(ADAM10): c.429T> A (p.Tyr143Ter)single nucleotide variantPathogenicrs483352914GRCh37Chr 15, 58971378: 58971378
13ADAM10NM_001110.3(ADAM10): c.1264delA (p.Thr422Hisfs)deletionPathogenicrs483352915GRCh37Chr 15, 58919995: 58919995
14ADAM10NM_001110.3(ADAM10): c.1571G> A (p.Cys524Tyr)single nucleotide variantPathogenicrs483352916GRCh37Chr 15, 58904131: 58904131

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

Compounds for genes affiliated with Dowling-Degos Disease

About this section
Sources:
43Novoseek, 24HMDB
See all sources

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

idCompoundScoreTop Affiliating Genes
1histidine439.2KRT5, KITLG
2retinoic acid43 249.3KRT5, KITLG, ADAM10

GO Terms for genes affiliated with Dowling-Degos Disease

About this section

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

idNameGO IDScoreTop Affiliating Genes
1protein O-linked glycosylationGO:00064939.2POGLUT1, POFUT1
2epidermal growth factor receptor signaling pathwayGO:00071739.0KITLG, ADAM10
3Notch signaling pathwayGO:00072198.8ADAM10, POGLUT1, POFUT1

Products for genes affiliated with Dowling-Degos Disease

About this section
  • Antibodies
  • Proteins
  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Dowling-Degos Disease

About this section
3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet