MCID: DWL001
MIFTS: 41

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 50 25 56 13 42 14 69
Reticular Pigment Anomaly of Flexures 12 50 25 56
Reticulate Acropigmentation of Kitamura 50 69
Dark Dot Disease 12 25
Reticular Pigmented Anomaly of Flexures 25
Kitamura Reticulate Acropigmentation 50
Dowling-Degos Kitamura Disease 50
Dowling-Degos-Kitamura Disease 25
Ddd 25

Characteristics:

Orphanet epidemiological data:

56
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 42 C562924
SNOMED-CT 64 239133004
Orphanet 56 ORPHA79145
UMLS via Orphanet 70 C3714534
ICD10 via Orphanet 34 L81.8

Summaries for Dowling-Degos Disease

NIH Rare Diseases : 50 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 dowling-degos disease 4. An important gene associated with Dowling-Degos Disease is ADAM10 (ADAM Metallopeptidase Domain 10), and among its related pathways/superpathways are Developmental Biology and Notch signaling pathway (KEGG). Affiliated tissues include skin and breast, and related phenotypes are cardiovascular system and growth/size/body region

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.

Related Diseases for Dowling-Degos Disease

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 44)
id Related Disease Score Top Affiliating Genes
1 dowling-degos disease 1 34.7 KRT14 KRT5
2 dowling-degos disease 4 12.5
3 dowling-degos disease 2 12.5
4 dowling-degos disease 3 12.2
5 ercc2-related xeroderma pigmentosum 10.7 KRT14 KRT5
6 pachyonychia congenita 3 10.6 KRT14 KRT5
7 light chain deposition disease 10.6 KRT14 KRT5
8 acantholytic acanthoma 10.6 KRT14 KRT5
9 epidermolysis bullosa simplex-mp 10.6 KRT14 KRT5
10 reticulate acropigmentation of kitamura 10.6
11 congenital hemolytic anemia 10.6 KRT14 KRT5
12 sed, maroteaux type 10.5 KRT14 KRT5
13 female breast axillary tail cancer 10.5 KRT14 KRT5
14 lobular neoplasia 10.5 KRT14 KRT5
15 hidradenitis suppurativa 10.5
16 hidradenitis 10.5
17 telangiectasia, hereditary hemorrhagic, type 2 10.4 ATP2A2 KRT14 KRT5
18 penis squamous cell carcinoma 10.3 KRT14 KRT5
19 urethra clear cell adenocarcinoma 10.3 KRT14 KRT5
20 acute pulmonary heart disease 10.3 ATP2A2 DSC2 DSC3
21 acne 10.3
22 keratosis 10.3
23 olivopontocerebellar atrophy deafness 10.2 KRT14 KRT5
24 scleroperikeratitis 10.2 KRT14 NCSTN PSENEN
25 basan syndrome 10.2 DKC1 KRT14
26 female reproductive system disease 10.2 KRT14 NCSTN PSENEN
27 squamous cell carcinoma 10.2
28 anterior horn cell disease 10.2 NOTCH1 NOTCH2
29 melanoma 10.0
30 keratoacanthoma 10.0
31 dyschromatosis universalis 10.0
32 darier disease 10.0
33 arthritis 10.0
34 dyschromatosis universalis hereditaria 10.0
35 raine syndrome 10.0 NOTCH1 NOTCH2 POFUT1
36 sebaceous basal cell carcinoma 10.0 KRT14 TYR
37 non-dystrophic myotonic disorders 10.0 NOTCH1 NOTCH2
38 leptospirosis 9.9 DSC2 KRT14 NCSTN PSENEN
39 dyschromatosis symmetrica hereditaria 9.8 ADAR PKLR TYR
40 alzheimer disease 18 9.8 ADAM10 ADAR DKC1 KRT14 POFUT1
41 benign dermal neurilemmoma 9.8 ENSG00000188223 KRT5 NCSTN PSENEN
42 small non-cleaved cell lymphoma 9.8 ATP2A2 KRT14 KRT5
43 acute hydrops keratoconus 9.8 ADAR POFUT1 POGLUT1 TYR
44 ptosis 4.4 ADAM10 ADAR ATP2A2 DDD3 DKC1 DSC2

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:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.16 ADAM10 ADAR NOTCH1 NOTCH2 POFUT1 POGLUT1
2 growth/size/body region MP:0005378 10.15 ADAM10 ADAR ATP2A2 DKC1 KRT14 KRT5
3 embryo MP:0005380 10.1 NOTCH2 POFUT1 POGLUT1 TYR ADAM10 ADAR
4 immune system MP:0005387 10.06 ADAM10 ADAR ATP2A2 DKC1 KRT14 NCSTN
5 mortality/aging MP:0010768 10.03 ADAM10 ADAR ATP2A2 DKC1 DSC3 KRT14
6 craniofacial MP:0005382 9.98 ADAM10 KRT14 KRT5 NCSTN NOTCH1 NOTCH2
7 integument MP:0010771 9.96 DSC3 KRT14 KRT5 NCSTN NOTCH1 NOTCH2
8 neoplasm MP:0002006 9.5 ATP2A2 DKC1 KRT14 NCSTN NOTCH1 NOTCH2
9 normal MP:0002873 9.23 NOTCH2 PKLR TYR ADAM10 DKC1 DSC3

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:

39
Skin, Breast

Publications for Dowling-Degos Disease

Articles related to Dowling-Degos Disease:

(show top 50) (show all 91)
id Title Authors Year
1
A phenotype combining hidradenitis suppurativa with Dowling-Degos disease caused by a founder mutation in PSENEN. ( 28922471 )
2017
2
Dowling-Degos disease with mutation in the exon 1 of the keratin 5 gene. ( 28646612 )
2017
3
PSENEN Mutation Carriers with Co-manifestation of Acne Inversa (AI) andA Dowling-Degos Disease (DDD): IsA AIA orA DDD the Subphenotype? ( 28601418 )
2017
4
Successful Management of Dowling-Degos Disease with Combination of Q-switched Nd: YAG and Fractional Carbon Dioxide Laser. ( 28529428 )
2017
5
Mutations in I^-secretase subunit-encoding PSENEN underlie Dowling-Degos disease associated with acne inversa. ( 28287404 )
2017
6
Atypical cases of Dowling-Degos disease. ( 27057490 )
2016
7
Dermatoscopic Features of Hyper and Hypopigmented Lesions of Dowling Degos Disease. ( 26955155 )
2016
8
Novel Mutations in PSENEN Gene in Two Chinese Acne Inversa Families Manifested as Familial Multiple Comedones and Dowling-Degos Disease. ( 27900998 )
2016
9
Dowling-Degos disease co-presenting with Darier disease. ( 26685052 )
2016
10
Dowling-Degos disease with reticulate acropigmentation of Kitamura: Extended spectrum of a single entity. ( 26955585 )
2016
11
Mutations in POGLUT1 in Galli-Galli/Dowling-Degos disease. ( 27479915 )
2016
12
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
13
Pathogenicity of POFUT1 mutations in two Chinese families with Dowling-Degos disease. ( 26486618 )
2015
14
Dowling-Degos disease and malignant melanoma: Association or mere coincidence? ( 26515850 )
2015
15
Dowling-Degos disease with mutations in POFUT1 is clinico-pathologically distinct from reticulate acropigmentation of Kitamura. ( 25639155 )
2015
16
Pathogenicity of POFUT1 in Dowling-Degos Disease: Additional Mutations and Clinical Overlap with Reticulate Acropigmentation of Kitamura. ( 25229252 )
2014
17
Dowling-Degos disease with diffuse penile pigmentation. ( 24422879 )
2014
18
Mutations in POGLUT1, Encoding Protein O-Glucosyltransferase 1, Cause Autosomal-Dominant Dowling-Degos Disease. ( 24387993 )
2014
19
Association of Dowling-Degos disease and multiple seborrheic keratosis in a "Christmas tree pattern". ( 25405133 )
2014
20
A case of reticulate acropigmentation of kitamura: dowling degos disease overlap with unusual clinical manifestations. ( 24891663 )
2014
21
Dowling-Degos Disease Associated With Hidradenitis Suppurativa: A Case Report. ( 25529465 )
2014
22
Analysis of POFUT1 gene mutation in a Chinese family with Dowling-Degos disease. ( 25157627 )
2014
23
The First Report of KRT5 Mutation Underlying Acantholytic Dowling-Degos Disease with Mottled Hypopigmentation in an Indian Family. ( 25284854 )
2014
24
Successful treatment of Dowling-Degos disease using intense pulsed light. ( 25495801 )
2014
25
Generalized dowling-degos disease: case reports. ( 24003282 )
2013
26
Follicular Dowling Degos disease: a rare variant of an evolving dermatosis. ( 24177614 )
2013
27
Treatment of Dowling-Degos disease with fractional Er:YAG laser. ( 23464495 )
2013
28
Dowling-Degos disease and hidradenitis suppurativa: Co occurrence or association? ( 23984231 )
2013
29
Mutations in POFUT1, encoding protein O-fucosyltransferase 1, cause generalized Dowling-Degos disease. ( 23684010 )
2013
30
Whole-exome sequencing identifies ADAM10 mutations as a cause of reticulate acropigmentation of Kitamura, a clinical entity distinct from Dowling-Degos disease. ( 23666529 )
2013
31
Presentation of reticulate acropigmentation of kitamura and dowling-degos disease overlap. ( 22808308 )
2012
32
A novel heterozygous nonsense mutation of keratin 5 in a Chinese family with Dowling-Degos disease. ( 21569119 )
2012
33
Galli-Galli disease is an acantholytic variant of Dowling-Degos disease: additional genetic evidence in a German family. ( 22583733 )
2012
34
Galli-galli disease: a rare acantholytic variant of dowling-degos disease. ( 21629813 )
2011
35
Unique brown star shape on dermatoscopy of generalized Dowling-Degos disease. ( 21605106 )
2011
36
Dowling-Degos disease presenting as hypopigmented macules. ( 21571208 )
2011
37
Coexistence of reticulate acropigmentation of Kitamura and Dowling-Degos disease. ( 25386285 )
2011
38
Dowling-Degos disease: classic clinical and histopathological presentation. ( 22147038 )
2011
39
Coexistence of vulvar dowling-degos disease and seborrhoeic keratosis. ( 21941561 )
2011
40
Dowling-Degos disease involving the vulva and back: case report and review of the literature. ( 21810386 )
2011
41
A case of dowling-degos disease on the vulva. ( 21747621 )
2011
42
Coexistent Dowling-Degos disease and reticulate acropigmentation of kitamura with progressive seborrheic keratosis. ( 21416772 )
2011
43
Dowling-Degos disease. ( 20191141 )
2010
44
Case for diagnosis. Dowling-Degos disease. ( 20520945 )
2010
45
Dowling-Degos disease: case report and review of the literature. ( 20332593 )
2010
46
Systematic mutation screening of KRT5 supports the hypothesis that Galli-Galli disease is a variant of Dowling-Degos disease. ( 20222933 )
2010
47
Haber's syndrome may be a clinical entity different from Dowling-Degos disease. ( 19067693 )
2009
48
Three cases of Dowling Degos disease in two families. ( 19584468 )
2009
49
Dermoscopy of Dowling-Degos disease of the vulva. ( 18347308 )
2008
50
A heterozygous frameshift mutation in the V1 domain of keratin 5 in a family with Dowling-Degos disease. ( 16917491 )
2007

Variations for Dowling-Degos Disease

ClinVar genetic disease variations for Dowling-Degos Disease:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 ADAM10 NM_001110.3(ADAM10): c.415C> T (p.Pro139Ser) single nucleotide variant Pathogenic rs483352912 GRCh37 Chromosome 15, 58971392: 58971392
2 ADAM10 NM_001110.3(ADAM10): c.1511G> A (p.Ser504Asn) single nucleotide variant Pathogenic rs483352913 GRCh37 Chromosome 15, 58913670: 58913670
3 ADAM10 NM_001110.3(ADAM10): c.429T> A (p.Tyr143Ter) single nucleotide variant Pathogenic rs483352914 GRCh37 Chromosome 15, 58971378: 58971378
4 ADAM10 NM_001110.3(ADAM10): c.1264delA (p.Thr422Hisfs) deletion Pathogenic rs483352915 GRCh37 Chromosome 15, 58919995: 58919995
5 ADAM10 NM_001110.3(ADAM10): c.1571G> A (p.Cys524Tyr) single nucleotide variant Pathogenic rs483352916 GRCh37 Chromosome 15, 58904131: 58904131

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 GeneCards Suite gene sharing:

(show all 17)
id Super pathways Score Top Affiliating Genes
1
Show member pathways
13.28 ADAM10 DSC2 DSC3 HSPA8 KRT14 KRT5
2
Show member pathways
12.42 ADAM10 NCSTN NOTCH1 NOTCH2 POFUT1 PSENEN
3 12.37 NCSTN NOTCH1 NOTCH2 PSENEN
4
Show member pathways
12.28 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
11.87 ADAM10 NCSTN NOTCH1 NOTCH2 PSENEN
9 11.79 ATP2A2 NOTCH1 NOTCH2
10
Show member pathways
11.65 ATP2A2 NOTCH1 NOTCH2 POFUT1 POGLUT1
11 11.44 ADAM10 NCSTN PSENEN
12 11.22 ADAM10 NCSTN NOTCH1 PSENEN
13 11.06 ADAM10 NOTCH1 NOTCH2
14 11.02 ADAM10 NCSTN PSENEN
15 10.91 POFUT1 POGLUT1
16 10.8 ADAM10 NOTCH1 NOTCH2 POFUT1
17 10.77 NCSTN PSENEN

GO Terms for Dowling-Degos Disease

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

id Name GO ID Score Top Affiliating Genes
1 membrane GO:0016020 9.83 ADAM10 ADAR ATP2A2 DKC1 DSC2 DSC3
2 melanosome GO:0042470 9.43 HSPA8 NCSTN TYR
3 Golgi-associated vesicle GO:0005798 9.16 ADAM10 TYR
4 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 17)
id Name GO ID Score Top Affiliating Genes
1 keratinization GO:0031424 9.78 DSC2 DSC3 KRT14 KRT5
2 ephrin receptor signaling pathway GO:0048013 9.73 ADAM10 NCSTN PSENEN
3 cornification GO:0070268 9.67 DSC2 DSC3 KRT14 KRT5
4 protein processing GO:0016485 9.63 ADAM10 NCSTN PSENEN
5 epidermis development GO:0008544 9.62 ATP2A2 KRT14 KRT5 NOTCH1
6 membrane protein intracellular domain proteolysis GO:0031293 9.57 NCSTN PSENEN
7 hemidesmosome assembly GO:0031581 9.55 KRT14 KRT5
8 pulmonary valve morphogenesis GO:0003184 9.54 NOTCH1 NOTCH2
9 amyloid precursor protein metabolic process GO:0042982 9.52 NCSTN PSENEN
10 Notch signaling involved in heart development GO:0061314 9.51 NOTCH1 NOTCH2
11 amyloid precursor protein catabolic process GO:0042987 9.49 NCSTN PSENEN
12 beta-amyloid formation GO:0034205 9.43 NCSTN PSENEN
13 membrane protein ectodomain proteolysis GO:0006509 9.43 ADAM10 NCSTN PSENEN
14 regulation of developmental process GO:0050793 9.4 NOTCH1 NOTCH2
15 Notch receptor processing GO:0007220 9.33 ADAM10 NCSTN PSENEN
16 Notch signaling pathway GO:0007219 9.1 ADAM10 NCSTN NOTCH1 NOTCH2 POFUT1 PSENEN
17 regulation of Notch signaling pathway GO:0008593 8.96 NOTCH1 POGLUT1

Sources for Dowling-Degos Disease

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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