MCID: DWL002
MIFTS: 50

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 53 71 28
Reticular Pigment Anomaly of Flexures 53 71
Hyperpigmentation 41 69
Ddd1 53 71
Ddd 53 71
Skin Diseases, Papulosquamous 41
Dowling-Degos Disease 69

Characteristics:

OMIM:

53
Inheritance:
autosomal dominant

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


HPO:

31
dowling-degos disease 1:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 53 179850
SNOMED-CT via HPO 65 263681008
UMLS 69 C0162834

Summaries for Dowling-Degos Disease 1

OMIM : 53 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, and has symptoms including progressive reticulate 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 growth/size/body region and homeostasis/metabolism

UniProtKB/Swiss-Prot : 71 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 85)
# Related Disease Score Top Affiliating Genes
1 malignant leydig cell tumor 30.1 KIT POMC
2 familial progressive hyperpigmentation 12.3
3 hyperpigmentation, familial progressive, 1 12.3
4 hyperpigmentation with or without hypopigmentation, familial progressive 12.3
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 dense deposit disease 11.6
14 histiocytosis-lymphadenopathy plus syndrome 11.5
15 dowling-degos disease 11.2
16 dowling-degos disease 2 11.1
17 c3 glomerulopathy 11.0
18 acne inversa, familial, 2, with or without dowling-degos disease 10.9
19 dense deposit disease/membranoproliferative glomerulonephritis type ii 10.9
20 tyrosinase-like 10.5 TYR TYRP1
21 skin/hair/eye pigmentation, variation in, 3 10.4 MITF TYR
22 breast adenomyoepithelioma 10.4 KITLG KRT5
23 breast myoepithelial neoplasm 10.4 KITLG KRT5
24 albinism, ocular, with sensorineural deafness 10.4 MITF TYR
25 pigmented basal cell carcinoma 10.4 MITF TYR
26 gastric squamous cell carcinoma 10.4 KITLG KRT5
27 sarcomatoid squamous cell skin carcinoma 10.4 KIT KRT5
28 waardenburg syndrome, type 2e 10.3 KITLG MITF
29 tietz albinism-deafness syndrome 10.3 MITF TYR
30 cervical clear cell adenocarcinoma 10.3 KITLG KRT5
31 diffuse meningeal melanocytosis 10.3 EDN1 TYR
32 indolent systemic mastocytosis 10.3 KIT KITLG
33 cutaneous ganglioneuroma 10.3 KIT MITF
34 cutaneous mastocytosis 10.3 KIT KITLG
35 aggressive systemic mastocytosis 10.3 KIT KITLG
36 urticaria pigmentosa 10.3 KIT KITLG
37 dyschromatosis universalis hereditaria 10.2 KITLG KRT5 POMC
38 vulvar melanoma 10.2 KIT TYR
39 hermansky-pudlak syndrome 3 10.2 MITF TYR TYRP1
40 dyschromatosis symmetrica hereditaria 10.2 MITF TYR TYRP1
41 albinism 10.2 MITF TYR TYRP1
42 amelanotic melanoma 10.2 KIT TYR TYRP1
43 mixed cell type cancer 10.2 KIT KRT5
44 thymus cancer 10.2 KIT KRT5 POMC
45 ewing's family of tumors 10.2 KIT KITLG
46 cutaneous solitary mastocytoma 10.1 KIT KITLG POMC
47 necrotizing sialometaplasia 10.1 KIT KRT5
48 mucosal melanoma 10.1 KIT MITF
49 malignant spindle cell melanoma 10.1 KIT MITF TYR
50 breast angiosarcoma 10.1 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:

53
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:

31
# Description HPO Frequency HPO Source Accession
1 progressive reticulate hyperpigmentation 31 HP:0007456

MGI Mouse Phenotypes related to Dowling-Degos Disease 1:

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

Drugs & Therapeutics for Dowling-Degos Disease 1

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

Inferred drug relations via UMLS 69 / NDF-RT 47 :


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 28 KRT5

Anatomical Context for Dowling-Degos Disease 1

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

38
Skin

Publications for Dowling-Degos Disease 1

Articles related to Dowling-Degos Disease 1:

(show top 50) (show all 267)
# Title Authors Year
1
Concurrent hidradenitis suppurativa and Dowling-Degos disease taken down a 'Notch'. ( 29441533 )
2018
2
Generalized Dowling-Degos disease with hypopigmented lesions: A diagnostic challenge. ( 29176251 )
2018
3
Addison's Disease Caused by Tuberculosis with Atypical Hyperpigmentation and Active Pulmonary Tuberculosis. ( 28717080 )
2017
4
Reticulate Hyperpigmentation in a Man With Hypohidrosis and Sinopulmonary Infections. ( 28273282 )
2017
5
Psychosocial impact of acne and postinflammatory hyperpigmentation. ( 28954099 )
2017
6
Dowling-Degos disease with mutation in the exon 1 of the keratin 5 gene. ( 28646612 )
2017
7
Postinflammatory hyperpigmentation associated with treatment of solar lentigines using a Q-Switched 532-nm Nd: YAG laser: a multicenter survey. ( 27786580 )
2017
8
A phenotype combining hidradenitis suppurativa with Dowling-Degos disease caused by a founder mutation in PSENEN. ( 28922471 )
2017
9
Successful Management of Dowling-Degos Disease with Combination of Q-switched Nd: YAG and Fractional Carbon Dioxide Laser. ( 28529428 )
2017
10
PSENEN Mutation Carriers with Co-manifestation of Acne Inversa (AI) andA Dowling-Degos Disease (DDD): IsA AIA orA DDD the Subphenotype? ( 28601418 )
2017
11
Mutations in I^-secretase subunit-encoding PSENEN underlie Dowling-Degos disease associated with acne inversa. ( 28287404 )
2017
12
Contact Dermatitis Associated with Alopecia and Hyperpigmentation. ( 28884901 )
2017
13
Clinical utility of hypo- and hyperpigmentation of skin in diffuse cutaneous systemic sclerosis. ( 28261995 )
2017
14
Laugier-Hunziker syndrome: a case of asymptomatic mucosal and acral hyperpigmentation. ( 28515989 )
2017
15
Diffuse skin hyperpigmentation associated with chronic minocycline use in a patient with prosthetic joint infection. ( 28050350 )
2017
16
A Pilot Study Evaluating Therapeutic Response of Different Dosage of Oral Glucocorticoid in Two Children with Familial Glucocorticoid Deficiency Presenting with Diffuse Mucocutaneous Hyperpigmentation. ( 28400640 )
2017
17
Response to 'Vitamin B12 deficiency may coexist with endocrine causes of hyperpigmentation'. ( 29025026 )
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
Follicular Dowling-Degos Disease: A Rare Pigmentary Dermatosis. ( 29204397 )
2017
20
A novel P53/POMC/GI+s/SASH1 autoregulatory feedback loop activates mutated SASH1 to cause pathologic hyperpigmentation. ( 27885802 )
2017
21
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
22
Hyperpigmentation as a peculiar presentation of mycosis fungoides. ( 29267458 )
2017
23
Familial Progressive Hyperpigmentation, Cutaneous Mastocytosis, and Gastrointestinal Stromal Tumor as Clinical Manifestations of Mutations in the c-KIT Receptor Gene. ( 27981619 )
2017
24
Familial progressive hyperpigmentation: A family resurvey and ultrastructural skin investigation. ( 28749546 )
2017
25
Megaloblastic anemia presenting with skin hyperpigmentation. ( 26961325 )
2016
26
Addisonian-Like Hyperpigmentation as an Indicator of Uncontrolled Congenital Adrenal Hyperplasia. ( 27072733 )
2016
27
Dowling-Degos disease with reticulate acropigmentation of Kitamura: Extended spectrum of a single entity. ( 26955585 )
2016
28
Improvement of hyperpigmentation within a plexiform neurofibroma after treatment with Q-switched neodymium:yttrium-aluminium-garnet laser. ( 26880255 )
2016
29
Cutaneous Hyperpigmentation in Megaloblastic Anemia: a Five Year Retrospective Review. ( 27158434 )
2016
30
Atypical cases of Dowling-Degos disease. ( 27057490 )
2016
31
Mutations in POGLUT1 in Galli-Galli/Dowling-Degos disease. ( 27479915 )
2016
32
Dermatoscopic Features of Hyper and Hypopigmented Lesions of Dowling Degos Disease. ( 26955155 )
2016
33
Familial progressive hyperpigmentation and hypopigmentation without KITLG mutation. ( 27859606 )
2016
34
Coexistence of Reticulate Acropigmentation of Kitamura and Dowling-Degos Disease. ( 29210541 )
2016
35
Hyperpigmentation following the Blaschko's lines: a subtle cutaneous manifestation of Turner syndrome with complex mosaicism. ( 27106053 )
2016
36
Dowling-Degos disease co-presenting with Darier disease. ( 26685052 )
2016
37
Reversible Cutaneous Hyperpigmentation in Vitamin B12 Deficiency. ( 27731562 )
2016
38
Minocycline-induced Cartilage Hyperpigmentation Mimicking Alkaptonuria in a Patient with Knee Pain. ( 27037242 )
2016
39
Reversible Facial Hyperpigmentation Associated With Vitamin B12 Deficiency. ( 27702910 )
2016
40
Novel Mutations in PSENEN Gene in Two Chinese Acne Inversa Families Manifested as Familial Multiple Comedones and Dowling-Degos Disease. ( 27900998 )
2016
41
A clinical study on oral lichen planus with special emphasis on hyperpigmentation. ( 26538905 )
2015
42
Hyperpigmentation and atrophy in folds as cutaneous manifestation in a case of mitochondrial myopathy. ( 26295861 )
2015
43
Hyperpigmentation over the metacarpophalangeal joints and the malleoli in a case of hyaline fibromatosis syndrome with ANTXR2 mutations. ( 26335786 )
2015
44
Dowling-Degos disease and malignant melanoma: Association or mere coincidence? ( 26515850 )
2015
45
Pathogenicity of POFUT1 mutations in two Chinese families with Dowling-Degos disease. ( 26486618 )
2015
46
A 61-year-old man with hyperpigmentation. Ochronosis. ( 26269283 )
2015
47
Dowling-Degos disease with mutations in POFUT1 is clinico-pathologically distinct from reticulate acropigmentation of Kitamura. ( 25639155 )
2015
48
Hypertrichosis and Hyperpigmentation in the Periocular Area Associated with Travoprost Treatment. ( 26512190 )
2015
49
H Syndrome: A Multifaceted Histiocytic Disorder with Hyperpigmentation and Hypertrichosis. ( 26015165 )
2015
50
Dramatic hyperpigmentation of keloids after intralesional triamcinolone acetonide injection. ( 26295862 )
2015

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 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
12.61 EDN1 IKBKG KIT KITLG
3
Show member pathways
12.56 FGFR3 GNAS IKBKG KIT KITLG STK11
4 12.5 FGFR3 IKBKG KIT KITLG
5
Show member pathways
12.44 FGFR3 IKBKG KIT KITLG
6
Show member pathways
12.41 FGFR3 GNAS IKBKG KIT KITLG
7 12.36 FGFR3 GNAS IKBKG KIT KITLG MITF
8
Show member pathways
11.91 KIT KITLG MITF
9 11.82 FGFR3 KIT KITLG
10
Show member pathways
11.59 EDN1 GNAS KIT KITLG MITF POMC
11 11.45 IKBKG POMC STK11
12
Show member pathways
11.03 EDN1 POMC
13 10.87 GNAS IKBKG
14 10.87 KIT KITLG MITF POMC
15 10.66 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 9.9 EDN1 FGFR3 GNAS IKBKG KIT KITLG
2 transport vesicle GO:0030133 9.13 EDN1 FGFR3 GNAS
3 melanosome membrane GO:0033162 8.62 TYR TYRP1

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

(show all 14)
# Name GO ID Score Top Affiliating Genes
1 protein autophosphorylation GO:0046777 9.7 FGFR3 KIT STK11
2 positive regulation of protein kinase B signaling GO:0051897 9.67 FGFR3 KIT KITLG
3 skeletal system development GO:0001501 9.65 EDN1 FGFR3 GNAS
4 phosphatidylinositol phosphorylation GO:0046854 9.58 FGFR3 KIT KITLG
5 positive regulation of phosphatidylinositol 3-kinase activity GO:0043552 9.54 FGFR3 KIT
6 endochondral ossification GO:0001958 9.51 FGFR3 GNAS
7 tissue homeostasis GO:0001894 9.46 GNAS STK11
8 embryonic hemopoiesis GO:0035162 9.43 KIT KITLG
9 melanin biosynthetic process GO:0042438 9.37 TYR TYRP1
10 positive regulation of MAP kinase activity GO:0043406 9.33 EDN1 KIT KITLG
11 anoikis GO:0043276 9.32 IKBKG STK11
12 ectopic germ cell programmed cell death GO:0035234 9.26 KIT KITLG
13 melanocyte differentiation GO:0030318 9.13 KIT MITF TYRP1
14 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
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 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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