DDD
MCID: DWL001
MIFTS: 46

Dowling-Degos Disease (DDD)

Categories: Genetic diseases, Metabolic diseases, Rare diseases, Skin 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
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 hidradenitis suppurativa and hidradenitis. 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 Developmental Biology. Affiliated tissues include skin, breast and lung, and related phenotypes are growth/size/body region and cardiovascular system

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

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.

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

Related Diseases for Dowling-Degos Disease

Diseases in the Dowling-Degos Disease family:

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

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

(show top 50) (show all 63)
# Related Disease Score Top Affiliating Genes
1 hidradenitis suppurativa 31.2 DSC2 KRT14 NCSTN PSENEN
2 hidradenitis 31.2 DSC2 KRT14 NCSTN PSENEN
3 reticulate acropigmentation of kitamura 31.1 ADAM10 ADAR DKC1 KRT14 POFUT1
4 dowling-degos disease 1 13.0
5 dowling-degos disease 2 12.8
6 dowling-degos disease 4 12.8
7 acne inversa, familial, 2, with or without dowling-degos disease 12.8
8 dowling-degos disease 3 12.5
9 dense deposit disease 12.0
10 degenerative disc disease 11.5
11 malignant atrophic papulosis 11.3
12 c3 glomerulopathy 11.2
13 keratosis 10.5
14 squamous cell carcinoma 10.4
15 atrioventricular block 10.4
16 alopecia 10.4
17 adrenocortical carcinoma, hereditary 10.3
18 sick sinus syndrome 10.3
19 adrenal cortical adenocarcinoma 10.3
20 arthritis 10.3
21 dyschromatosis universalis hereditaria 10.3
22 melanoma 10.3
23 pustulosis of palm and sole 10.3
24 psoriasis 10.3
25 benign breast adenomyoepithelioma 10.2 KRT14 KRT5
26 lichen planopilaris 10.2 KRT14 KRT5
27 epidermolysis bullosa simplex, autosomal recessive 1 10.2 KRT14 KRT5
28 atrial standstill 1 10.2
29 large cell acanthoma 10.2 KRT14 KRT5
30 apocrine sweat gland neoplasm 10.2 KRT14 KRT5
31 epidermolysis bullosa simplex, localized 10.2 KRT14 KRT5
32 transverse colon cancer 10.2 DSC2 DSC3
33 epidermolysis bullosa simplex, generalized 10.2 KRT14 KRT5
34 breast squamous cell carcinoma 10.2 KRT14 KRT5
35 epidermolysis bullosa simplex with mottled pigmentation 10.1 ATP2A2 KRT14 KRT5
36 adrenal carcinoma 10.1
37 schneiderian carcinoma 10.1 KRT5 NOTCH1
38 lacrimal gland adenoid cystic carcinoma 10.1 NOTCH1 NOTCH2
39 bullous skin disease 10.1 ATP2A2 DSC2 DSC3
40 sweat gland disease 10.1 KRT14 KRT5 NCSTN
41 subcorneal pustular dermatosis 10.1 ATP2A2 DSC2 DSC3
42 cervical clear cell adenocarcinoma 10.1 KRT14 KRT5
43 adermatoglyphia 10.1 DKC1 KRT14
44 nodular regenerative hyperplasia 10.0 NOTCH1 NOTCH2
45 atrial fibrillation 10.0
46 odontoma 10.0 KRT14 KRT5
47 pigmented basal cell carcinoma 10.0 KRT14 TYR
48 dyschromatosis symmetrica hereditaria 9.9 ADAR PKLR TYR
49 skin disease 9.9 ADAR ATP2A2 DSC3 KRT14 KRT5
50 lung cancer 9.9

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 (show all 12)
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.22 ADAM10 ADAR ATP2A2 DKC1 EGF KRT14
2 cardiovascular system MP:0005385 10.21 ADAM10 ADAR ATP2A2 DSC2 NCSTN NOTCH1
3 cellular MP:0005384 10.19 ADAM10 ADAR ATP2A2 DKC1 DSC3 KRT14
4 immune system MP:0005387 10.15 ADAM10 ADAR ATP2A2 DKC1 EGF KRT14
5 embryo MP:0005380 10.13 ADAM10 ADAR ATP2A2 DKC1 NCSTN NOTCH1
6 integument MP:0010771 10.13 ADAM10 ADAR ATP2A2 DKC1 DSC3 EGF
7 mortality/aging MP:0010768 10.13 ADAM10 ADAR ATP2A2 DKC1 DSC3 KRT14
8 craniofacial MP:0005382 10.02 ADAM10 KRT14 KRT5 NCSTN NOTCH1 NOTCH2
9 digestive/alimentary MP:0005381 10 ADAM10 ATP2A2 EGF KRT14 KRT5 NOTCH1
10 neoplasm MP:0002006 9.7 ATP2A2 DKC1 KRT14 NCSTN NOTCH1 NOTCH2
11 normal MP:0002873 9.61 ADAM10 DKC1 DSC3 EGF NCSTN NOTCH1
12 pigmentation MP:0001186 9.02 ADAM10 KRT14 NOTCH1 NOTCH2 TYR

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, Lung, Colon, Tonsil

Publications for Dowling-Degos Disease

Articles related to Dowling-Degos Disease:

(show top 50) (show all 107)
# 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
Full ablative versus fractional ablative laser therapy for Dowling-Degos disease. ( 30281812 )
2018
8
Altered Notch signaling in Dowling-Degos disease: Additional mutations in POGLUT1 and further insights into disease pathogenesis. ( 30414910 )
2018
9
Dowling-Degos Disease Localized on Vulva Mimicking Condyloma Acuminata. ( 30504986 )
2018
10
A case of co-occurence of Dowling-Degos disease and psoriasis: association or a rarely-seen coincidence? ( 30518180 )
2018
11
Follicular Dowling-Degos Disease: A Rare Pigmentary Dermatosis. ( 29204397 )
2017
12
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
13
Mutations in I^-secretase subunit-encoding PSENEN underlie Dowling-Degos disease associated with acne inversa. ( 28287404 )
2017
14
Dowling-Degos disease with mutation in the exon 1 of the keratin 5 gene. ( 28646612 )
2017
15
PSENEN Mutation Carriers with Co-manifestation of Acne Inversa (AI) andA Dowling-Degos Disease (DDD): IsA AIA orA DDD the Subphenotype? ( 28601418 )
2017
16
Successful Management of Dowling-Degos Disease with Combination of Q-switched Nd: YAG and Fractional Carbon Dioxide Laser. ( 28529428 )
2017
17
A phenotype combining hidradenitis suppurativa with Dowling-Degos disease caused by a founder mutation in PSENEN. ( 28922471 )
2017
18
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
19
Dermatoscopic Features of Hyper and Hypopigmented Lesions of Dowling Degos Disease. ( 26955155 )
2016
20
Novel Mutations in PSENEN Gene in Two Chinese Acne Inversa Families Manifested as Familial Multiple Comedones and Dowling-Degos Disease. ( 27900998 )
2016
21
Dowling-Degos disease with reticulate acropigmentation of Kitamura: Extended spectrum of a single entity. ( 26955585 )
2016
22
Atypical cases of Dowling-Degos disease. ( 27057490 )
2016
23
Mutations in POGLUT1 in Galli-Galli/Dowling-Degos disease. ( 27479915 )
2016
24
Dowling-Degos disease co-presenting with Darier disease. ( 26685052 )
2016
25
Coexistence of Reticulate Acropigmentation of Kitamura and Dowling-Degos Disease. ( 29210541 )
2016
26
Dowling-Degos disease and malignant melanoma: Association or mere coincidence? ( 26515850 )
2015
27
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
28
Dowling-Degos disease with mutations in POFUT1 is clinico-pathologically distinct from reticulate acropigmentation of Kitamura. ( 25639155 )
2015
29
Pathogenicity of POFUT1 mutations in two Chinese families with Dowling-Degos disease. ( 26486618 )
2015
30
The First Report of KRT5 Mutation Underlying Acantholytic Dowling-Degos Disease with Mottled Hypopigmentation in an Indian Family. ( 25284854 )
2014
31
Dowling-Degos Disease Associated With Hidradenitis Suppurativa: A Case Report. ( 25529465 )
2014
32
Pathogenicity of POFUT1 in Dowling-Degos Disease: Additional Mutations and Clinical Overlap with Reticulate Acropigmentation of Kitamura. ( 25229252 )
2014
33
Successful treatment of Dowling-Degos disease using intense pulsed light. ( 25495801 )
2014
34
Dowling-Degos disease with diffuse penile pigmentation. ( 24422879 )
2014
35
A case of reticulate acropigmentation of kitamura: dowling degos disease overlap with unusual clinical manifestations. ( 24891663 )
2014
36
Association of Dowling-Degos disease and multiple seborrheic keratosis in a "Christmas tree pattern". ( 25405133 )
2014
37
Analysis of POFUT1 gene mutation in a Chinese family with Dowling-Degos disease. ( 25157627 )
2014
38
Mutations in POGLUT1, Encoding Protein O-Glucosyltransferase 1, Cause Autosomal-Dominant Dowling-Degos Disease. ( 24387993 )
2014
39
Mutations in POFUT1, encoding protein O-fucosyltransferase 1, cause generalized Dowling-Degos disease. ( 23684010 )
2013
40
Generalized dowling-degos disease: case reports. ( 24003282 )
2013
41
Dowling-Degos disease and hidradenitis suppurativa: Co occurrence or association? ( 23984231 )
2013
42
Whole-exome sequencing identifies ADAM10 mutations as a cause of reticulate acropigmentation of Kitamura, a clinical entity distinct from Dowling-Degos disease. ( 23666529 )
2013
43
Follicular Dowling Degos disease: a rare variant of an evolving dermatosis. ( 24177614 )
2013
44
Treatment of Dowling-Degos disease with fractional Er:YAG laser. ( 23464495 )
2013
45
Galli-Galli disease is an acantholytic variant of Dowling-Degos disease: additional genetic evidence in a German family. ( 22583733 )
2012
46
A novel heterozygous nonsense mutation of keratin 5 in a Chinese family with Dowling-Degos disease. ( 21569119 )
2012
47
Presentation of reticulate acropigmentation of kitamura and dowling-degos disease overlap. ( 22808308 )
2012
48
A case of dowling-degos disease on the vulva. ( 21747621 )
2011
49
Dowling-Degos disease presenting as hypopigmented macules. ( 21571208 )
2011
50
Unique brown star shape on dermatoscopy of generalized Dowling-Degos disease. ( 21605106 )
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:

(show all 19)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.91 ADAM10 DSC2 DSC3 EGF HSPA8 KRT14
2
Show member pathways
12.42 ADAM10 NCSTN NOTCH1 NOTCH2 POFUT1 PSENEN
3 12.41 NCSTN NOTCH1 NOTCH2 PSENEN
4
Show member pathways
12.29 DSC2 DSC3 KRT14 KRT5
5 12.07 NCSTN NOTCH1 NOTCH2 PSENEN
6
Show member pathways
11.96 ADAM10 ATP2A2 NCSTN NOTCH1 NOTCH2 POFUT1
7 11.93 NCSTN NOTCH1 NOTCH2 PSENEN
8
Show member pathways
11.92 ADAM10 NCSTN NOTCH1 NOTCH2 PSENEN
9 11.81 ATP2A2 NOTCH1 NOTCH2
10
Show member pathways
11.76 EGF NCSTN PSENEN
11
Show member pathways
11.76 ATP2A2 NOTCH1 NOTCH2 POFUT1 POGLUT1
12 11.6 EGF NOTCH1 NOTCH2
13 11.41 ADAM10 NCSTN PSENEN
14 11.29 ADAM10 NCSTN NOTCH1 PSENEN
15 11.06 ADAM10 NOTCH1 NOTCH2
16 11 ADAM10 NOTCH1 NOTCH2 POFUT1
17 10.97 ADAM10 NCSTN PSENEN
18 10.93 POFUT1 POGLUT1
19 10.79 NCSTN PSENEN

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 extracellular exosome GO:0070062 9.92 ADAM10 DSC2 EGF HSPA8 KRT14 KRT5
2 membrane GO:0016020 9.86 ADAM10 ADAR ATP2A2 DKC1 DSC2 DSC3
3 melanosome GO:0042470 9.33 HSPA8 NCSTN TYR
4 Golgi-associated vesicle GO:0005798 9.26 ADAM10 TYR
5 gamma-secretase complex GO:0070765 8.8 ENSG00000188223 NCSTN PSENEN

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

(show all 18)
# Name GO ID Score Top Affiliating Genes
1 keratinization GO:0031424 9.8 DSC2 DSC3 KRT14 KRT5
2 cornification GO:0070268 9.71 DSC2 DSC3 KRT14 KRT5
3 epidermis development GO:0008544 9.67 ATP2A2 KRT14 KRT5 NOTCH1
4 protein processing GO:0016485 9.65 ADAM10 NCSTN PSENEN
5 positive regulation of Ras protein signal transduction GO:0046579 9.58 NOTCH1 NOTCH2
6 pulmonary valve morphogenesis GO:0003184 9.57 NOTCH1 NOTCH2
7 hemidesmosome assembly GO:0031581 9.56 KRT14 KRT5
8 amyloid precursor protein metabolic process GO:0042982 9.55 NCSTN PSENEN
9 Notch receptor processing GO:0007220 9.54 NCSTN PSENEN
10 Notch signaling involved in heart development GO:0061314 9.52 NOTCH1 NOTCH2
11 amyloid precursor protein catabolic process GO:0042987 9.51 NCSTN PSENEN
12 membrane protein ectodomain proteolysis GO:0006509 9.5 ADAM10 NCSTN PSENEN
13 regulation of developmental process GO:0050793 9.46 NOTCH1 NOTCH2
14 negative regulation of growth rate GO:0045967 9.43 NOTCH1 NOTCH2
15 regulation of Notch signaling pathway GO:0008593 9.43 NOTCH1 POFUT1 POGLUT1
16 Notch receptor processing, ligand-dependent GO:0035333 9.33 ADAM10 NCSTN PSENEN
17 amyloid-beta formation GO:0034205 9.13 ADAM10 NCSTN PSENEN
18 Notch signaling pathway GO:0007219 9.1 ADAM10 NCSTN NOTCH1 NOTCH2 POFUT1 PSENEN

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

# Name GO ID Score Top Affiliating Genes
1 calcium ion binding GO:0005509 9.1 ATP2A2 DSC2 DSC3 EGF NOTCH1 NOTCH2

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
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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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