MCID: DWL001
MIFTS: 40

Dowling-Degos Disease

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

Aliases & Classifications for Dowling-Degos Disease

MalaCards integrated aliases for Dowling-Degos Disease:

Name: Dowling-Degos Disease 12 53 25 59 37 13 44 15 73
Reticular Pigment Anomaly of Flexures 12 53 25 59
Reticulate Acropigmentation of Kitamura 53 73
Dark Dot Disease 12 25
Reticular Pigmented Anomaly of Flexures 25
Kitamura Reticulate Acropigmentation 53
Dowling-Degos Kitamura Disease 53
Dowling-Degos-Kitamura Disease 25
Ddd 25

Characteristics:

Orphanet epidemiological data:

59
dowling-degos disease
Inheritance: Autosomal dominant; Age of onset: Adolescent,Adult; Age of death: normal life expectancy;

Classifications:



External Ids:

Disease Ontology 12 DOID:0060256
MeSH 44 C562924
SNOMED-CT 68 239133004
Orphanet 59 ORPHA79145
UMLS via Orphanet 74 C3714534
ICD10 via Orphanet 34 L81.8
KEGG 37 H00944

Summaries for Dowling-Degos Disease

NIH Rare Diseases : 53 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.

MalaCards based summary : Dowling-Degos Disease, also known as reticular pigment anomaly of flexures, is related to reticulate acropigmentation of kitamura and dyschromatosis universalis hereditaria. An important gene associated with Dowling-Degos Disease is KRT5 (Keratin 5), and among its related pathways/superpathways are Other types of O-glycan biosynthesis and Notch signaling pathway (KEGG). Affiliated tissues include skin and breast, and related phenotypes are embryo and mortality/aging

Genetics Home Reference : 25 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, back of the knee, and under the breasts. Less commonly, pigmentation changes can also occur on the neck, wrists, back of the hands, face, scalp, scrotum, and vulva. These areas of hyperpigmentation typically cause no health problems.

Disease Ontology : 12 A pigmentation disease characterized by a reticulate pattern of abnormally dark skin coloring, particularly in the body's folds and creases.

Wikipedia : 76 Reticular pigmented anomaly of the flexures (also known as \"dark dot disease\", and \"Dowling–Degos\'... more...

Related Diseases for Dowling-Degos Disease

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



Diseases related to Dowling-Degos Disease

Symptoms & Phenotypes for Dowling-Degos Disease

MGI Mouse Phenotypes related to Dowling-Degos Disease:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 embryo MP:0005380 9.43 ADAM10 ADAR ATP2A2 NOTCH1 POFUT1 POGLUT1
2 mortality/aging MP:0010768 9.28 ADAM10 ADAR ATP2A2 KRT5 NOTCH1 PKLR

Drugs & Therapeutics for Dowling-Degos Disease

Search Clinical Trials , NIH Clinical Center for Dowling-Degos Disease

Cochrane evidence based reviews: dowling-degos disease

Genetic Tests for Dowling-Degos Disease

Anatomical Context for Dowling-Degos Disease

MalaCards organs/tissues related to Dowling-Degos Disease:

41
Skin, Breast

Publications for Dowling-Degos Disease

Articles related to Dowling-Degos Disease:

(show top 50) (show all 101)
# Title Authors Year
1
Whole exome sequencing in a multi-generation family from India reveals a genetic variation c.10C>T (p.Gln4Ter) in keratin 5 gene associated with Dowling-Degos disease. ( 29600799 )
2018
2
Atypical presentation of Dowling-Degos disease with novel and recurrent mutations in POFUT1. ( 29797344 )
2018
3
Vesicular variant of Dowling-Degos disease. ( 29931677 )
2018
4
Concurrent hidradenitis suppurativa and Dowling-Degos disease taken down a 'Notch'. ( 29441533 )
2018
5
A new nonsense mutation in the POGLUT1 gene in two sisters with Dowling-Degos disease. ( 29569780 )
2018
6
Generalized Dowling-Degos disease with hypopigmented lesions: A diagnostic challenge. ( 29176251 )
2018
7
Follicular Dowling-Degos Disease: A Rare Pigmentary Dermatosis. ( 29204397 )
2017
8
Novel POFUT1 mutation associated with hidradenitis suppurativa-Dowling-Degos disease firm up a role for Notch signalling in the pathogenesis of this disorder. ( 29274243 )
2017
9
Mutations in I^-secretase subunit-encoding PSENEN underlie Dowling-Degos disease associated with acne inversa. ( 28287404 )
2017
10
Dowling-Degos disease with mutation in the exon 1 of the keratin 5 gene. ( 28646612 )
2017
11
PSENEN Mutation Carriers with Co-manifestation of Acne Inversa (AI) andA Dowling-Degos Disease (DDD): IsA AIA orA DDD the Subphenotype? ( 28601418 )
2017
12
Successful Management of Dowling-Degos Disease with Combination of Q-switched Nd: YAG and Fractional Carbon Dioxide Laser. ( 28529428 )
2017
13
A phenotype combining hidradenitis suppurativa with Dowling-Degos disease caused by a founder mutation in PSENEN. ( 28922471 )
2017
14
Novel POFUT1 mutation associated with hidradenitis suppurativa-Dowling Degos Disease firm up a role for Notch signalling in the pathogenesis of this disorder: reply from authors. ( 29274076 )
2017
15
Dermatoscopic Features of Hyper and Hypopigmented Lesions of Dowling Degos Disease. ( 26955155 )
2016
16
Novel Mutations in PSENEN Gene in Two Chinese Acne Inversa Families Manifested as Familial Multiple Comedones and Dowling-Degos Disease. ( 27900998 )
2016
17
Dowling-Degos disease with reticulate acropigmentation of Kitamura: Extended spectrum of a single entity. ( 26955585 )
2016
18
Atypical cases of Dowling-Degos disease. ( 27057490 )
2016
19
Mutations in POGLUT1 in Galli-Galli/Dowling-Degos disease. ( 27479915 )
2016
20
Dowling-Degos disease co-presenting with Darier disease. ( 26685052 )
2016
21
Coexistence of Reticulate Acropigmentation of Kitamura and Dowling-Degos Disease. ( 29210541 )
2016
22
Dowling-Degos disease and malignant melanoma: Association or mere coincidence? ( 26515850 )
2015
23
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
24
Dowling-Degos disease with mutations in POFUT1 is clinico-pathologically distinct from reticulate acropigmentation of Kitamura. ( 25639155 )
2015
25
Pathogenicity of POFUT1 mutations in two Chinese families with Dowling-Degos disease. ( 26486618 )
2015
26
The First Report of KRT5 Mutation Underlying Acantholytic Dowling-Degos Disease with Mottled Hypopigmentation in an Indian Family. ( 25284854 )
2014
27
Dowling-Degos Disease Associated With Hidradenitis Suppurativa: A Case Report. ( 25529465 )
2014
28
Pathogenicity of POFUT1 in Dowling-Degos Disease: Additional Mutations and Clinical Overlap with Reticulate Acropigmentation of Kitamura. ( 25229252 )
2014
29
Successful treatment of Dowling-Degos disease using intense pulsed light. ( 25495801 )
2014
30
Dowling-Degos disease with diffuse penile pigmentation. ( 24422879 )
2014
31
A case of reticulate acropigmentation of kitamura: dowling degos disease overlap with unusual clinical manifestations. ( 24891663 )
2014
32
Association of Dowling-Degos disease and multiple seborrheic keratosis in a "Christmas tree pattern". ( 25405133 )
2014
33
Analysis of POFUT1 gene mutation in a Chinese family with Dowling-Degos disease. ( 25157627 )
2014
34
Mutations in POGLUT1, Encoding Protein O-Glucosyltransferase 1, Cause Autosomal-Dominant Dowling-Degos Disease. ( 24387993 )
2014
35
Mutations in POFUT1, encoding protein O-fucosyltransferase 1, cause generalized Dowling-Degos disease. ( 23684010 )
2013
36
Generalized dowling-degos disease: case reports. ( 24003282 )
2013
37
Dowling-Degos disease and hidradenitis suppurativa: Co occurrence or association? ( 23984231 )
2013
38
Whole-exome sequencing identifies ADAM10 mutations as a cause of reticulate acropigmentation of Kitamura, a clinical entity distinct from Dowling-Degos disease. ( 23666529 )
2013
39
Follicular Dowling Degos disease: a rare variant of an evolving dermatosis. ( 24177614 )
2013
40
Treatment of Dowling-Degos disease with fractional Er:YAG laser. ( 23464495 )
2013
41
Galli-Galli disease is an acantholytic variant of Dowling-Degos disease: additional genetic evidence in a German family. ( 22583733 )
2012
42
A novel heterozygous nonsense mutation of keratin 5 in a Chinese family with Dowling-Degos disease. ( 21569119 )
2012
43
Presentation of reticulate acropigmentation of kitamura and dowling-degos disease overlap. ( 22808308 )
2012
44
A case of dowling-degos disease on the vulva. ( 21747621 )
2011
45
Dowling-Degos disease presenting as hypopigmented macules. ( 21571208 )
2011
46
Unique brown star shape on dermatoscopy of generalized Dowling-Degos disease. ( 21605106 )
2011
47
Coexistent Dowling-Degos disease and reticulate acropigmentation of kitamura with progressive seborrheic keratosis. ( 21416772 )
2011
48
Dowling-Degos disease: classic clinical and histopathological presentation. ( 22147038 )
2011
49
Coexistence of reticulate acropigmentation of Kitamura and Dowling-Degos disease. ( 25386285 )
2011
50
Galli-galli disease: a rare acantholytic variant of dowling-degos disease. ( 21629813 )
2011

Variations for Dowling-Degos Disease

ClinVar genetic disease variations for Dowling-Degos Disease:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 KRT5 NM_000424.3(KRT5): c.14C> A (p.Ser5Ter) single nucleotide variant Pathogenic rs58751565 GRCh37 Chromosome 12, 52914067: 52914067
2 KRT5 NM_000424.3(KRT5): c.14C> A (p.Ser5Ter) single nucleotide variant Pathogenic rs58751565 GRCh38 Chromosome 12, 52520283: 52520283
3 KRT5 KRT5, 1-BP DUP, 418A duplication Pathogenic

Expression for Dowling-Degos Disease

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

Pathways for Dowling-Degos Disease

Pathways related to Dowling-Degos Disease according to KEGG:

37
# Name Kegg Source Accession
1 Other types of O-glycan biosynthesis hsa00514

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

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.16 ADAM10 NOTCH1 POFUT1 PSENEN
2
Show member pathways
11.84 ADAM10 ATP2A2 NOTCH1 POFUT1 POGLUT1 PSENEN
3
Show member pathways
11.7 ADAM10 NOTCH1 PSENEN
4
Show member pathways
11.36 ATP2A2 NOTCH1 POFUT1 POGLUT1
5 11.22 ADAM10 PSENEN
6 11.1 ADAM10 NOTCH1 PSENEN
7 10.89 ADAM10 NOTCH1
8 10.88 ADAM10 NOTCH1 POFUT1
9 10.79 ADAM10 PSENEN
10 10.75 POFUT1 POGLUT1

GO Terms for Dowling-Degos Disease

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

# Name GO ID Score Top Affiliating Genes
1 endoplasmic reticulum GO:0005783 9.02 ATP2A2 NOTCH1 POFUT1 POGLUT1 PSENEN

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

(show all 13)
# Name GO ID Score Top Affiliating Genes
1 carbohydrate metabolic process GO:0005975 9.65 FUT1 PKLR POFUT1
2 in utero embryonic development GO:0001701 9.63 ADAM10 ADAR NOTCH1
3 protein glycosylation GO:0006486 9.58 FUT1 POFUT1 POGLUT1
4 protein O-linked glycosylation GO:0006493 9.52 POFUT1 POGLUT1
5 somitogenesis GO:0001756 9.51 POFUT1 POGLUT1
6 positive regulation of Notch signaling pathway GO:0045747 9.49 NOTCH1 POGLUT1
7 positive regulation of viral genome replication GO:0045070 9.43 ADAR NOTCH1
8 membrane protein ectodomain proteolysis GO:0006509 9.37 ADAM10 PSENEN
9 epidermis development GO:0008544 9.33 ATP2A2 KRT5 NOTCH1
10 Notch receptor processing GO:0007220 9.32 ADAM10 PSENEN
11 Notch receptor processing, ligand-dependent GO:0035333 9.26 ADAM10 PSENEN
12 Notch signaling pathway GO:0007219 9.26 ADAM10 NOTCH1 POFUT1 PSENEN
13 regulation of Notch signaling pathway GO:0008593 8.8 NOTCH1 POFUT1 POGLUT1

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

# Name GO ID Score Top Affiliating Genes
1 transferase activity, transferring glycosyl groups GO:0016757 9.13 FUT1 POFUT1 POGLUT1
2 fucosyltransferase activity GO:0008417 8.62 FUT1 POFUT1

Sources for Dowling-Degos Disease

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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