DDD
MCID: DWL001
MIFTS: 36

Dowling-Degos Disease (DDD) malady

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

Aliases & Classifications for Dowling-Degos Disease

Aliases & Descriptions 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 25 69
Dark Dot Disease 12 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
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 2. An important gene associated with Dowling-Degos Disease is POGLUT1 (Protein O-Glucosyltransferase 1), and among its related pathways/superpathways are Wnt Signaling Pathways: beta-Catenin-independent Wnt/Ca2+ Signaling and Other Non-canonical Wnt Signaling Pathways and Glucocorticoid receptor regulatory network. Affiliated tissues include skin, 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 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

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 33)
id Related Disease Score Top Affiliating Genes
1 dowling-degos disease 1 12.6
2 dowling-degos disease 2 12.6
3 dowling-degos disease 4 12.5
4 dowling-degos disease 3 12.2
5 reticulate acropigmentation of kitamura 11.5
6 dyschromatosis symmetrica hereditaria 11.1
7 hidradenitis suppurativa 10.4
8 hidradenitis 10.4
9 keratosis 10.3
10 squamous cell carcinoma 10.2
11 high grade b-cell lymphoma with rearrangements of myc and bcl2 and/or bcl6 10.1 ADAR KRT5
12 melanoma 10.0
13 keratoacanthoma 10.0
14 dyschromatosis universalis 10.0
15 darier disease 10.0
16 acne 10.0
17 arthritis 10.0
18 dyschromatosis universalis hereditaria 10.0
19 stomach diverticulosis 10.0 TYR TYRP1
20 craniosynostosis 6 10.0 TYR TYRP1
21 mental retardation, autosomal recessive 47 9.9 TYR TYRP1
22 hepatic lipase deficiency 9.9 ADAM10 ADAR POFUT1
23 ovarian endometrioid cystadenoma 9.9 KRT5 POMC
24 anauxetic dysplasia 1 9.9 TYR TYRP1
25 combined thymoma 9.9 KRT5 POMC
26 carotid stenosis 9.8 ADAM10 POMC
27 aicardi-goutieres syndrome 6 9.8 ADAR TYR TYRP1
28 anterior corneal pigmentation 9.8 TYR TYRP1
29 syndromic x-linked intellectual disability 9.8 ADAR KRT5 POMC
30 cerebral artery occlusion 9.8 ADAR POFUT1 POGLUT1 TYR
31 nail disorder, nonsyndromic congenital, 7 9.7 POMC TYR TYRP1
32 epidermolysis bullosa simplex, recessive 1 8.9 ADAM10 ADAR KRT5 POFUT1 POGLUT1 POMC
33 gallbladder disease 8.8 ADAM10 ADAR DDD3 KRT5 POFUT1 POGLUT1

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 growth/size/body region MP:0005378 9.86 POGLUT1 POMC TYR TYRP1 ADAM10 ADAR
2 cardiovascular system MP:0005385 9.85 ADAM10 ADAR POFUT1 POGLUT1 POMC TYR
3 embryo MP:0005380 9.72 ADAM10 ADAR POFUT1 POGLUT1 TYR
4 mortality/aging MP:0010768 9.56 ADAM10 ADAR KRT5 POFUT1 POGLUT1 POMC
5 integument MP:0010771 9.55 KRT5 POFUT1 POMC TYR TYRP1
6 nervous system MP:0003631 9.1 ADAM10 POFUT1 POGLUT1 POMC TYR TYRP1

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

Publications for Dowling-Degos Disease

Articles related to Dowling-Degos Disease:

(show top 50) (show all 86)
id Title Authors Year
1
Dermatoscopic Features of Hyper and Hypopigmented Lesions of Dowling Degos Disease. ( 26955155 )
2016
2
Mutations in POGLUT1 in Galli-Galli/Dowling-Degos disease. ( 27479915 )
2016
3
Dowling-Degos disease with reticulate acropigmentation of Kitamura: Extended spectrum of a single entity. ( 26955585 )
2016
4
Atypical cases of Dowling-Degos disease. ( 27057490 )
2016
5
Dowling-Degos disease co-presenting with Darier disease. ( 26685052 )
2016
6
Novel Mutations in PSENEN Gene in Two Chinese Acne Inversa Families Manifested as Familial Multiple Comedones and Dowling-Degos Disease. ( 27900998 )
2016
7
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
8
Pathogenicity of POFUT1 mutations in two Chinese families with Dowling-Degos disease. ( 26486618 )
2015
9
Dowling-Degos disease with mutations in POFUT1 is clinico-pathologically distinct from reticulate acropigmentation of Kitamura. ( 25639155 )
2015
10
Dowling-Degos disease and malignant melanoma: Association or mere coincidence? ( 26515850 )
2015
11
Dowling-Degos Disease Associated With Hidradenitis Suppurativa: A Case Report. ( 25529465 )
2014
12
Pathogenicity of POFUT1 in Dowling-Degos Disease: Additional Mutations and Clinical Overlap with Reticulate Acropigmentation of Kitamura. ( 25229252 )
2014
13
Mutations in POGLUT1, Encoding Protein O-Glucosyltransferase 1, Cause Autosomal-Dominant Dowling-Degos Disease. ( 24387993 )
2014
14
The First Report of KRT5 Mutation Underlying Acantholytic Dowling-Degos Disease with Mottled Hypopigmentation in an Indian Family. ( 25284854 )
2014
15
Successful treatment of Dowling-Degos disease using intense pulsed light. ( 25495801 )
2014
16
Dowling-Degos disease with diffuse penile pigmentation. ( 24422879 )
2014
17
Analysis of POFUT1 gene mutation in a Chinese family with Dowling-Degos disease. ( 25157627 )
2014
18
Association of Dowling-Degos disease and multiple seborrheic keratosis in a "Christmas tree pattern". ( 25405133 )
2014
19
A case of reticulate acropigmentation of kitamura: dowling degos disease overlap with unusual clinical manifestations. ( 24891663 )
2014
20
Treatment of Dowling-Degos disease with fractional Er:YAG laser. ( 23464495 )
2013
21
Dowling-Degos disease and hidradenitis suppurativa: Co occurrence or association? ( 23984231 )
2013
22
Whole-exome sequencing identifies ADAM10 mutations as a cause of reticulate acropigmentation of Kitamura, a clinical entity distinct from Dowling-Degos disease. ( 23666529 )
2013
23
Generalized dowling-degos disease: case reports. ( 24003282 )
2013
24
Mutations in POFUT1, encoding protein O-fucosyltransferase 1, cause generalized Dowling-Degos disease. ( 23684010 )
2013
25
Follicular Dowling Degos disease: a rare variant of an evolving dermatosis. ( 24177614 )
2013
26
Presentation of reticulate acropigmentation of kitamura and dowling-degos disease overlap. ( 22808308 )
2012
27
A novel heterozygous nonsense mutation of keratin 5 in a Chinese family with Dowling-Degos disease. ( 21569119 )
2012
28
Galli-Galli disease is an acantholytic variant of Dowling-Degos disease: additional genetic evidence in a German family. ( 22583733 )
2012
29
Coexistence of vulvar dowling-degos disease and seborrhoeic keratosis. ( 21941561 )
2011
30
Dowling-Degos disease presenting as hypopigmented macules. ( 21571208 )
2011
31
Galli-galli disease: a rare acantholytic variant of dowling-degos disease. ( 21629813 )
2011
32
Dowling-Degos disease involving the vulva and back: case report and review of the literature. ( 21810386 )
2011
33
Coexistence of reticulate acropigmentation of Kitamura and Dowling-Degos disease. ( 25386285 )
2011
34
Coexistent Dowling-Degos disease and reticulate acropigmentation of kitamura with progressive seborrheic keratosis. ( 21416772 )
2011
35
Dowling-Degos disease: classic clinical and histopathological presentation. ( 22147038 )
2011
36
Unique brown star shape on dermatoscopy of generalized Dowling-Degos disease. ( 21605106 )
2011
37
A case of dowling-degos disease on the vulva. ( 21747621 )
2011
38
Systematic mutation screening of KRT5 supports the hypothesis that Galli-Galli disease is a variant of Dowling-Degos disease. ( 20222933 )
2010
39
Case for diagnosis. Dowling-Degos disease. ( 20520945 )
2010
40
Dowling-Degos disease. ( 20191141 )
2010
41
Dowling-Degos disease: case report and review of the literature. ( 20332593 )
2010
42
Three cases of Dowling Degos disease in two families. ( 19584468 )
2009
43
Haber's syndrome may be a clinical entity different from Dowling-Degos disease. ( 19067693 )
2009
44
Dermoscopy of Dowling-Degos disease of the vulva. ( 18347308 )
2008
45
Spotted and rippled reticulate hypermelanosis: a possible variant of Dowling-Degos disease. ( 17199603 )
2007
46
Generalized Dowling-Degos disease. ( 17637446 )
2007
47
Dowling-Degos disease with asymmetrical axillary distribution and no KRT 5 exon 1 mutation. ( 17989904 )
2007
48
A heterozygous frameshift mutation in the V1 domain of keratin 5 in a family with Dowling-Degos disease. ( 16917491 )
2007
49
Galli-Galli disease is an acantholytic variant of Dowling-Degos disease. ( 17300252 )
2007
50
Atypical presentation of Dowling-Degos disease. ( 16987294 )
2006

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

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 Golgi-associated vesicle GO:0005798 8.96 ADAM10 TYR
2 melanosome membrane GO:0033162 8.62 TYR TYRP1

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

id Name GO ID Score Top Affiliating Genes
1 somitogenesis GO:0001756 9.26 POFUT1 POGLUT1
2 protein O-linked glycosylation GO:0006493 9.16 POFUT1 POGLUT1
3 pigmentation GO:0043473 8.96 TYR TYRP1
4 melanin biosynthetic process GO:0042438 8.62 TYR TYRP1

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

id Name GO ID Score Top Affiliating Genes
1 copper ion binding GO:0005507 8.62 TYR TYRP1

Sources for Dowling-Degos Disease

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9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
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32 HPO
33 ICD10
34 ICD10 via Orphanet
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37 KEGG
38 LifeMap
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48 NDF-RT
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65 SNOMED-CT via Orphanet
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70 UMLS via Orphanet
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