MCID: DWL002
MIFTS: 41

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 54 24 71 29
Reticular Pigment Anomaly of Flexures 24 71
Hyperpigmentation 42 69
Ddd1 24 71
Ddd 24 71
Skin Diseases, Papulosquamous 42
Dowling-Degos Disease 69

Characteristics:

OMIM:

54
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 54 179850
MedGen 40 C0406811
SNOMED-CT via HPO 65 263681008

Summaries for Dowling-Degos Disease 1

OMIM : 54
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 familial progressive hyperpigmentation and hyperpigmentation with or without hypopigmentation, 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 4 Dowling-Degos Disease 1
Dowling-Degos Disease 3 Dowling-Degos Disease 2

Diseases related to Dowling-Degos Disease 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 70)
id Related Disease Score Top Affiliating Genes
1 familial progressive hyperpigmentation 12.2
2 hyperpigmentation with or without hypopigmentation 12.1
3 hyperpigmentation, familial progressive, 1 12.0
4 hyperkeratosis-hyperpigmentation syndrome 11.9
5 nevoid hypermelanosis, linear and whorled 11.8
6 extrasystoles, multiform ventricular, with short stature, hyperpigmentation and microcephaly 11.8
7 hyperpigmentation of eyelid 11.8
8 mental retardation hypotonia skin hyperpigmentation 11.7
9 progressive black carbon hyperpigmentation of infancy 11.7
10 extrasystoles short stature hyperpigmentation microcephaly 11.7
11 dowling-degos disease 11.6
12 dense deposit disease 11.5
13 histiocytosis-lymphadenopathy plus syndrome 11.4
14 degenerative disc disease 11.3
15 female breast axillary tail cancer 10.6 KITLG KRT5
16 lobular neoplasia 10.6 KITLG KRT5
17 tietz albinism-deafness syndrome 10.6 MITF TYR
18 commad syndrome 10.6 MITF TYR
19 sebaceous basal cell carcinoma 10.6 MITF TYR
20 pneumonia 10.6 KITLG KRT5
21 fallopian tube squamous cell carcinoma 10.6 KIT KRT5
22 deafness, mitochondrial, modifier of 10.6 KITLG MITF
23 melanoma, cutaneous malignant 8 10.5 MITF TYR
24 urethra clear cell adenocarcinoma 10.5 KITLG KRT5
25 childhood brainstem astrocytoma 10.5 EDN1 TYR
26 malignant sertoli-leydig cell tumor 10.5 KIT POMC
27 venous hemangioma 10.5 KIT KITLG
28 vulval paget's disease 10.5 KIT TYR
29 glomus tumor 10.5 KIT MITF
30 cutaneous solitary mastocytoma 10.5 KIT KITLG
31 kidney clear cell sarcoma 10.5 KIT KRT5
32 adult brainstem gliosarcoma 10.5 KIT KITLG
33 cough variant asthma 10.4 KIT KITLG
34 autosomal dominant non-syndromic intellectual disability 10.4 KITLG KRT5 POMC
35 autism susceptibility 16 10.4 MITF TYR TYRP1
36 dyschromatosis symmetrica hereditaria 10.4 MITF TYR TYRP1
37 hypersensitivity reaction type iii disease 10.3 KIT KRT5
38 malignant breast melanoma 10.3 KIT TYR TYRP1
39 collagenopathy, types ii and xi 10.3 MITF TYR TYRP1
40 exertional headache 10.3 KIT KITLG
41 mixed type thymoma 10.3 KIT KRT5 POMC
42 parotid gland adenoid cystic carcinoma 10.3 KIT MITF
43 rhabdoid cancer 10.3 KIT KITLG POMC
44 fallopian tube serous papilloma 10.3 KIT MITF TYR
45 thyroid angiosarcoma 10.3 KIT MITF TYR
46 gangliosidosis gm2 10.2 KIT MITF TYR
47 heavy chain disease 10.2 KIT MITF TYR
48 plasmodium ovale malaria 10.2 KIT KRT5
49 factitious disorder 10.2 KIT MITF
50 periventricular nodular heterotopia 3 10.2 KIT KITLG MITF

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:

54

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

MGI Mouse Phenotypes related to Dowling-Degos Disease 1:

44 (show all 24)
id Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.39 EDN1 FGFR3 GNAS IKBKG KIT KITLG
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 craniofacial MP:0005382 10.3 EDN1 FGFR3 GNAS KIT KITLG KRT5
5 endocrine/exocrine gland MP:0005379 10.28 TYR EDN1 GNAS IKBKG KIT KITLG
6 cellular MP:0005384 10.26 STK11 TYR FGFR3 GNAS IKBKG KIT
7 integument MP:0010771 10.26 FGFR3 GNAS IKBKG KIT KITLG KRT5
8 mortality/aging MP:0010768 10.26 KIT KITLG KRT5 MITF POMC STK11
9 immune system MP:0005387 10.24 RBP1 STK11 TYR FGFR3 GNAS IKBKG
10 hearing/vestibular/ear MP:0005377 10.22 EDN1 FGFR3 GNAS KIT KITLG MITF
11 cardiovascular system MP:0005385 10.21 EDN1 GNAS IKBKG KIT KITLG POMC
12 hematopoietic system MP:0005397 10.21 FGFR3 GNAS IKBKG KIT KITLG MITF
13 nervous system MP:0003631 10.17 EDN1 FGFR3 GNAS KIT KITLG MITF
14 digestive/alimentary MP:0005381 10.14 KIT KITLG KRT5 STK11 EDN1 FGFR3
15 neoplasm MP:0002006 10.11 FGFR3 GNAS IKBKG KIT KITLG POMC
16 limbs/digits/tail MP:0005371 10.05 KRT5 MITF TYR FGFR3 GNAS KIT
17 liver/biliary system MP:0005370 10.04 GNAS IKBKG KIT KITLG POMC RBP1
18 no phenotypic analysis MP:0003012 10.01 FGFR3 GNAS KIT KRT5 MITF POMC
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 EDN1 FGFR3 GNAS KIT POMC STK11
23 skeleton MP:0005390 9.56 EDN1 FGFR3 GNAS KIT KITLG MITF
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 69 / NDF-RT 48 :


Cochrane evidence based reviews: skin diseases, papulosquamous

Genetic Tests for Dowling-Degos Disease 1

Genetic tests related to Dowling-Degos Disease 1:

id Genetic test Affiliating Genes
1 Dowling-Degos Disease 1 29 24 KRT5

Anatomical Context for Dowling-Degos Disease 1

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

39
Skin

Publications for Dowling-Degos Disease 1

Variations for Dowling-Degos Disease 1

ClinVar genetic disease variations for Dowling-Degos Disease 1:

6
id 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 15)
id Super pathways Score Top Affiliating Genes
1
Show member pathways
12.68 FGFR3 GNAS IKBKG KIT KITLG STK11
2
Show member pathways
12.6 EDN1 IKBKG KIT KITLG
3
Show member pathways
12.45 FGFR3 IKBKG KIT KITLG
4
Show member pathways
12.41 FGFR3 GNAS IKBKG KIT KITLG
5 12.27 FGFR3 GNAS IKBKG KIT KITLG STK11
6 12.23 FGFR3 GNAS IKBKG KIT KITLG MITF
7
Show member pathways
11.91 KIT KITLG MITF
8 11.81 FGFR3 KIT KITLG
9
Show member pathways
11.58 EDN1 GNAS KIT KITLG MITF POMC
10 11.45 IKBKG POMC STK11
11
Show member pathways
11.02 EDN1 POMC
12 10.87 KIT KITLG MITF POMC
13 10.86 GNAS IKBKG
14 10.66 KIT KITLG
15 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:

id 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 15)
id Name GO ID Score Top Affiliating Genes
1 protein autophosphorylation GO:0046777 9.71 FGFR3 KIT STK11
2 skeletal system development GO:0001501 9.69 EDN1 FGFR3 GNAS
3 phosphatidylinositol-mediated signaling GO:0048015 9.63 FGFR3 KIT KITLG
4 phosphatidylinositol phosphorylation GO:0046854 9.61 FGFR3 KIT KITLG
5 positive regulation of phosphatidylinositol 3-kinase activity GO:0043552 9.55 FGFR3 KIT
6 endochondral ossification GO:0001958 9.52 FGFR3 GNAS
7 regulation of phosphatidylinositol 3-kinase signaling GO:0014066 9.5 FGFR3 KIT KITLG
8 tissue homeostasis GO:0001894 9.49 GNAS STK11
9 embryonic hemopoiesis GO:0035162 9.48 KIT KITLG
10 melanin biosynthetic process GO:0042438 9.4 TYR TYRP1
11 anoikis GO:0043276 9.37 IKBKG STK11
12 positive regulation of MAP kinase activity GO:0043406 9.33 EDN1 KIT KITLG
13 ectopic germ cell programmed cell death GO:0035234 9.26 KIT KITLG
14 pigmentation GO:0043473 9.13 KIT TYR TYRP1
15 melanocyte differentiation GO:0030318 8.8 KIT MITF TYRP1

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

id 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
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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