MCID: DWL002
MIFTS: 48

Dowling-Degos Disease 1

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

Aliases & Classifications for Dowling-Degos Disease 1

MalaCards integrated aliases for Dowling-Degos Disease 1:

Name: Dowling-Degos Disease 1 57 75 29 6
Reticular Pigment Anomaly of Flexures 57 75
Hyperpigmentation 44 73
Ddd1 57 75
Ddd 57 75
Skin Diseases, Papulosquamous 44
Dowling-Degos Disease 73

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
onset after puberty
reticulate acropigmentation of kitamura (hyperpigmentation found primarily in hands and feet)


HPO:

32
dowling-degos disease 1:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 179850
SNOMED-CT via HPO 69 263681008
UMLS 73 C0162834

Summaries for Dowling-Degos Disease 1

OMIM : 57 Dowling-Degos disease (DDD) is an autosomal dominant genodermatosis characterized by reticular pigmentation, usually in a flexural distribution. However, generalized DDD can also occur, with numerous hypopigmented or erythematous macules and papules on the neck, chest, and abdomen. The histopathology of DDD shows characteristic thin branch-like patterns of epidermal downgrowth (summary by Li et al., 2013). (179850)

MalaCards based summary : Dowling-Degos Disease 1, also known as reticular pigment anomaly of flexures, is related to malignant leydig cell tumor and familial progressive hyperpigmentation. An important gene associated with Dowling-Degos Disease 1 is KRT5 (Keratin 5), and among its related pathways/superpathways are p70S6K Signaling and Development Angiotensin activation of ERK. Affiliated tissues include skin, and related phenotypes are progressive reticulate hyperpigmentation and growth/size/body region

UniProtKB/Swiss-Prot : 75 Dowling-Degos disease 1: An autosomal dominant genodermatosis. Affected individuals develop a postpubertal reticulate hyperpigmentation that is progressive and disfiguring, and small hyperkeratotic dark brown papules that affect mainly the flexures and great skin folds. Patients usually show no abnormalities of the hair or nails.

Related Diseases for Dowling-Degos Disease 1

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 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 90)
# Related Disease Score Top Affiliating Genes
1 malignant leydig cell tumor 30.4 KIT POMC
2 familial progressive hyperpigmentation 12.4
3 hyperpigmentation with or without hypopigmentation, familial progressive 12.3
4 hyperpigmentation, familial progressive, 1 12.2
5 hyperkeratosis-hyperpigmentation syndrome 12.0
6 hyperpigmentation of eyelids 11.9
7 nevoid hypermelanosis, linear and whorled 11.9
8 extrasystoles, multiform ventricular, with short stature, hyperpigmentation and microcephaly 11.9
9 hyperpigmentation of fuldauer and kuijpers 11.8
10 nasal hyperpigmentation, familial transverse 11.8
11 extrasystoles short stature hyperpigmentation microcephaly 11.8
12 progressive black carbon hyperpigmentation of infancy 11.8
13 histiocytosis-lymphadenopathy plus syndrome 11.7
14 dense deposit disease 11.6
15 degenerative disc disease 11.4
16 dowling-degos disease 11.3
17 dowling-degos disease 2 11.1
18 c3 glomerulopathy 11.1
19 acne inversa, familial, 2, with or without dowling-degos disease 10.9
20 albinism, ocular, with sensorineural deafness 10.6 MITF TYR
21 pigmented basal cell carcinoma 10.6 MITF TYR
22 gastric squamous cell carcinoma 10.6 KITLG KRT5
23 sarcomatoid squamous cell skin carcinoma 10.6 KIT KRT5
24 breast adenomyoepithelioma 10.6 KITLG KRT5
25 waardenburg syndrome, type 2e 10.6 KITLG MITF
26 breast myoepithelial neoplasm 10.6 KITLG KRT5
27 cervical clear cell adenocarcinoma 10.6 KITLG KRT5
28 tietz albinism-deafness syndrome 10.6 MITF TYR
29 diffuse meningeal melanocytosis 10.5 EDN1 TYR
30 indolent systemic mastocytosis 10.5 KIT KITLG
31 cutaneous mastocytosis 10.5 KIT KITLG
32 cutaneous ganglioneuroma 10.5 KIT MITF
33 aggressive systemic mastocytosis 10.5 KIT KITLG
34 urticaria pigmentosa 10.4 KIT KITLG
35 dyschromatosis universalis hereditaria 10.4 KITLG KRT5 POMC
36 vulvar melanoma 10.4 KIT TYR
37 hermansky-pudlak syndrome 3 10.4 MITF TYR TYRP1
38 mixed cell type cancer 10.4 KIT KRT5
39 dyschromatosis symmetrica hereditaria 10.4 MITF TYR TYRP1
40 cloacogenic carcinoma 10.4 KRT5 POMC
41 ocular albinism 10.4 MITF TYR TYRP1
42 amelanotic melanoma 10.3 KIT TYR TYRP1
43 necrotizing sialometaplasia 10.3 KIT KRT5
44 albinism 10.3 MITF TYR TYRP1
45 ewing's family of tumors 10.3 KIT KITLG
46 thymus cancer 10.3 KIT KRT5 POMC
47 mucosal melanoma 10.3 KIT MITF
48 malignant skin fibrous histiocytoma 10.3 KIT TYR
49 cutaneous solitary mastocytoma 10.3 KIT KITLG POMC
50 malignant spindle cell melanoma 10.2 KIT MITF TYR

Graphical network of the top 20 diseases related to Dowling-Degos Disease 1:



Diseases related to Dowling-Degos Disease 1

Symptoms & Phenotypes for Dowling-Degos Disease 1

Symptoms via clinical synopsis from OMIM:

57
Skin Nails Hair Skin:
progressive reticulate hyperpigmentation (axillae, groin, perineal, perianal)
hyperkeratotic dark-brown papules
pitted, perioral acneiform scars

Skin Nails Hair Skin Histology:
filiform epithelial downgrowth of epidermal rete ridges
acantholytic changes (in some patients)


Clinical features from OMIM:

179850

Human phenotypes related to Dowling-Degos Disease 1:

32
# Description HPO Frequency HPO Source Accession
1 progressive reticulate hyperpigmentation 32 HP:0007456

MGI Mouse Phenotypes related to Dowling-Degos Disease 1:

46 (show all 24)
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.39 GNAS IKBKG KIT KITLG KRT5 MITF
2 homeostasis/metabolism MP:0005376 10.33 EDN1 FGFR3 GNAS IKBKG KIT KITLG
3 behavior/neurological MP:0005386 10.32 FGFR3 GNAS IKBKG KIT KRT5 MITF
4 cellular MP:0005384 10.3 FGFR3 GNAS IKBKG KIT KITLG MITF
5 craniofacial MP:0005382 10.3 EDN1 FGFR3 GNAS KIT KITLG KRT5
6 endocrine/exocrine gland MP:0005379 10.28 STK11 TYR EDN1 GNAS IKBKG KIT
7 hematopoietic system MP:0005397 10.26 FGFR3 GNAS IKBKG KIT KITLG MITF
8 integument MP:0010771 10.26 IKBKG KIT KITLG KRT5 MITF POMC
9 mortality/aging MP:0010768 10.26 IKBKG KIT KITLG KRT5 MITF POMC
10 immune system MP:0005387 10.24 FGFR3 GNAS IKBKG KIT KITLG MITF
11 hearing/vestibular/ear MP:0005377 10.22 EDN1 FGFR3 GNAS KIT KITLG MITF
12 cardiovascular system MP:0005385 10.21 EDN1 GNAS IKBKG KIT KITLG POMC
13 nervous system MP:0003631 10.17 EDN1 FGFR3 GNAS KIT KITLG MITF
14 digestive/alimentary MP:0005381 10.14 EDN1 FGFR3 IKBKG KIT KITLG KRT5
15 neoplasm MP:0002006 10.11 FGFR3 GNAS IKBKG KIT KITLG POMC
16 limbs/digits/tail MP:0005371 10.05 FGFR3 GNAS KIT KITLG KRT5 MITF
17 liver/biliary system MP:0005370 10.04 GNAS IKBKG KIT KITLG POMC RBP1
18 no phenotypic analysis MP:0003012 10.01 TYR FGFR3 GNAS KIT KRT5 MITF
19 normal MP:0002873 9.97 EDN1 FGFR3 GNAS IKBKG KIT MITF
20 pigmentation MP:0001186 9.92 IKBKG KIT KITLG MITF POMC RBP1
21 reproductive system MP:0005389 9.81 FGFR3 IKBKG KIT KITLG MITF RBP1
22 renal/urinary system MP:0005367 9.8 POMC STK11 TYR EDN1 FGFR3 GNAS
23 skeleton MP:0005390 9.56 KIT KITLG MITF TYR TYRP1 EDN1
24 vision/eye MP:0005391 9.23 FGFR3 KIT KITLG MITF RBP1 STK11

Drugs & Therapeutics for Dowling-Degos Disease 1

Search Clinical Trials , NIH Clinical Center for Dowling-Degos Disease 1

Inferred drug relations via UMLS 73 / NDF-RT 51 :


Cochrane evidence based reviews: skin diseases, papulosquamous

Genetic Tests for Dowling-Degos Disease 1

Genetic tests related to Dowling-Degos Disease 1:

# Genetic test Affiliating Genes
1 Dowling-Degos Disease 1 29 KRT5

Anatomical Context for Dowling-Degos Disease 1

MalaCards organs/tissues related to Dowling-Degos Disease 1:

41
Skin

Publications for Dowling-Degos Disease 1

Articles related to Dowling-Degos Disease 1:

(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 1

ClinVar genetic disease variations for Dowling-Degos Disease 1:

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 1

Search GEO for disease gene expression data for Dowling-Degos Disease 1.

Pathways for Dowling-Degos Disease 1

Pathways related to Dowling-Degos Disease 1 according to GeneCards Suite gene sharing:

(show all 16)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.68 FGFR3 GNAS IKBKG KIT KITLG STK11
2
Show member pathways
12.62 EDN1 GNAS IKBKG KIT KITLG
3
Show member pathways
12.56 FGFR3 GNAS IKBKG KIT KITLG STK11
4 12.52 FGFR3 IKBKG KIT KITLG
5
Show member pathways
12.45 FGFR3 IKBKG KIT KITLG
6
Show member pathways
12.41 FGFR3 GNAS IKBKG KIT KITLG
7 12.35 FGFR3 GNAS IKBKG KIT KITLG MITF
8
Show member pathways
12.09 EDN1 GNAS KIT KITLG MITF POMC
9
Show member pathways
11.92 KIT KITLG MITF
10 11.84 FGFR3 KIT KITLG
11 11.45 IKBKG POMC STK11
12
Show member pathways
11.03 EDN1 POMC
13 10.89 GNAS IKBKG
14 10.87 KIT KITLG MITF POMC
15 10.68 KIT KITLG
16 10.1 TYR TYRP1

GO Terms for Dowling-Degos Disease 1

Cellular components related to Dowling-Degos Disease 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cytoplasm GO:0005737 9.4 EDN1 FGFR3 GNAS IKBKG KIT KITLG
2 transport vesicle GO:0030133 9.33 EDN1 FGFR3 GNAS
3 melanosome membrane GO:0033162 8.96 TYR TYRP1

Biological processes related to Dowling-Degos Disease 1 according to GeneCards Suite gene sharing:

(show all 15)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of cell proliferation GO:0008284 9.85 EDN1 FGFR3 KIT KITLG
2 protein autophosphorylation GO:0046777 9.7 FGFR3 KIT STK11
3 positive regulation of protein kinase B signaling GO:0051897 9.67 FGFR3 KIT KITLG
4 skeletal system development GO:0001501 9.65 EDN1 FGFR3 GNAS
5 phosphatidylinositol phosphorylation GO:0046854 9.58 FGFR3 KIT KITLG
6 positive regulation of phosphatidylinositol 3-kinase activity GO:0043552 9.54 FGFR3 KIT
7 endochondral ossification GO:0001958 9.51 FGFR3 GNAS
8 tissue homeostasis GO:0001894 9.46 GNAS STK11
9 embryonic hemopoiesis GO:0035162 9.43 KIT KITLG
10 melanin biosynthetic process GO:0042438 9.37 TYR TYRP1
11 positive regulation of MAP kinase activity GO:0043406 9.33 EDN1 KIT KITLG
12 anoikis GO:0043276 9.32 IKBKG STK11
13 ectopic germ cell programmed cell death GO:0035234 9.26 KIT KITLG
14 melanocyte differentiation GO:0030318 9.13 KIT MITF TYRP1
15 pigmentation GO:0043473 8.92 KIT MITF TYR TYRP1

Molecular functions related to Dowling-Degos Disease 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 Ras guanyl-nucleotide exchange factor activity GO:0005088 9.13 FGFR3 KIT KITLG
2 phosphatidylinositol-4,5-bisphosphate 3-kinase activity GO:0046934 8.8 FGFR3 KIT KITLG

Sources for Dowling-Degos Disease 1

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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