MCID: DWL001
MIFTS: 43

Dowling-Degos Disease malady

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

Aliases & Classifications for Dowling-Degos Disease

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Aliases & Descriptions for Dowling-Degos Disease:

Name: Dowling-Degos Disease 10 11 45 23 12 51 36 65
Reticular Pigment Anomaly of Flexures 10 45 23 51
Reticulate Acropigmentation of Kitamura 45 23 65
Dark Dot Disease 10 23
 
Kitamura Reticulate Acropigmentation 45
Dowling-Degos-Kitamura Disease 23
Dowling-Degos Kitamura Disease 45
Ddd 23

Characteristics:

Orphanet epidemiological data:

51
dowling-degos disease:
Inheritance: Autosomal dominant; Age of onset: Adolescent,Adult; Age of death: normal life expectancy

Classifications:



External Ids:

Disease Ontology10 DOID:0060256
MeSH36 C562924
SNOMED-CT59 239133004
Orphanet51 79145
ICD10 via Orphanet28 L81.8
UMLS65 C0406811, C3714534

Summaries for Dowling-Degos Disease

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NIH Rare Diseases:45 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 dyschromatosis symmetrica hereditaria. An important gene associated with Dowling-Degos Disease is POGLUT1 (Protein O-Glucosyltransferase 1), and among its related pathways are Other types of O-glycan biosynthesis and Dorso-ventral axis formation. Affiliated tissues include skin, breast and neutrophil, and related mouse phenotypes are embryo and tumorigenesis.

Disease Ontology:10 A pigmentation disease characterized by a reticulate pattern of abnormally dark skin coloring, particularly in the body's folds and creases.

Genetics Home Reference:23 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

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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 top 50)    (show all 104)
idRelated DiseaseScoreTop Affiliating Genes
1dowling-degos disease 135.1KRT14, KRT5
2dyschromatosis symmetrica hereditaria31.4ADAR, FRK
3dowling-degos disease 212.9
4dowling-degos disease 412.9
5dowling-degos disease 312.7
6dense deposit disease11.7
7c3 glomerulopathy11.7
8reticulate acropigmentation of kitamura10.7
9leukemia10.6
10sarcoma10.5
11cerebritis10.5
12pachyonychia congenita 310.4KRT14, KRT5
13pilar sheath acanthoma10.4KRT14, KRT5
14bile duct mucoepidermoid carcinoma10.4KRT14, KRT5
15epidermolysis bullosa simplex, weber-cockayne type10.4KRT14, KRT5
16female breast upper-inner quadrant cancer10.4KRT14, KRT5
17breast ductal carcinoma10.4KRT14, KRT5
18skin pilomatrix carcinoma10.4KRT14, KRT5
19megalocornea10.4ADAR, KRT5
20nasal cavity squamous cell carcinoma10.4KRT14, KRT5
21schizophrenia10.4
22asthma10.4
23breast cancer10.4
24bacteremia10.4
25myelodysplastic syndrome10.4
26ataxia-telangiectasia10.4
27aspergillosis10.4
28poikiloderma with neutropenia10.4
29paramyotonia congenita10.4
30lesch-nyhan syndrome10.4
31acne10.4
32cerebral palsy10.4
33gastric cancer10.4
34hepatitis10.4
35neutropenia10.4
36osteopetrosis10.4
37renal tubular acidosis10.4
38ulcerative colitis10.4
39waldenstrom macroglobulinemia10.4
40spastic cerebral palsy10.4
41primary progressive multiple sclerosis10.4
42colon adenoma10.4
43apraxia10.4
44colitis10.4
45pleurisy10.4
46malignant hypertension10.4
47esophagitis10.4
48color blindness10.4
49cardiac sarcoidosis10.4
50acute cholangitis10.4

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



Diseases related to dowling-degos disease

Symptoms for Dowling-Degos Disease

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Drugs & Therapeutics for Dowling-Degos Disease

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Dowling-Degos Disease


Cochrane evidence based reviews: dowling-degos disease

Genetic Tests for Dowling-Degos Disease

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Anatomical Context for Dowling-Degos Disease

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MalaCards organs/tissues related to Dowling-Degos Disease:

33
Skin, Breast, Neutrophil, Eye, Endothelial, Monocytes, Myeloid

Animal Models for Dowling-Degos Disease or affiliated genes

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MGI Mouse Phenotypes related to Dowling-Degos Disease:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053808.7ADAM10, ADAR, NOTCH1, NOTCH2, POFUT1, POGLUT1
2MP:00020068.6ATP2A2, FRK, KRT14, NOTCH1, NOTCH2, TYR
3MP:00107718.1ATP2A2, DSC3, KRT14, KRT5, NOTCH1, NOTCH2
4MP:00053857.6ADAM10, ADAR, ATP2A2, NOTCH1, NOTCH2, POFUT1
5MP:00053877.6ADAM10, ADAR, ATP2A2, KRT14, NOTCH1, NOTCH2
6MP:00053787.3ADAM10, ADAR, ATP2A2, KRT14, KRT5, NOTCH1
7MP:00107686.8ADAM10, ADAR, ATP2A2, DSC3, KRT14, KRT5

Publications for Dowling-Degos Disease

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Articles related to Dowling-Degos Disease:

(show top 50)    (show all 80)
idTitleAuthorsYear
1
Results of a Multicenter, Randomized, Double-Masked, Placebo-Controlled Clinical Study of the Efficacy and Safety of Visomitin Eye Drops in Patients with Dry Eye Syndrome. (26660938)
2015
2
Enrichment of Human Stem-Like Prostate Cells with s-SHIP Promoter Activity Uncovers a Role in Stemness for the Long Noncoding RNA H19. (25567531)
2015
3
The influence of human GSTZ1 gene haplotype variations on GSTZ1 expression. (25738370)
2015
4
Enhancement of silencing DNA polymerase I^ on the radiotherapeutic sensitivity of human esophageal carcinoma cell lines. (25015190)
2014
5
Apolipoprotein E gene I/4I/4 is associated with elevated risk of primary open angle glaucoma in Asians: a meta-analysis. (24885013)
2014
6
Prognostic significance of 14-3-3I^ overexpression in advanced non-small cell lung cancer. (24870749)
2014
7
Faster thrombin generation in women with polycystic ovary syndrome compared with healthy controls matched for age and body mass index. (23415973)
2013
8
Novel OPA1 missense mutation in a family with optic atrophy and severe widespread neurological disorder. (23387428)
2013
9
Actinic keratosis in the en-face and slice imaging mode of high-definition optical coherence tomography and comparison with histology. (22861068)
2013
10
No evidence of viral coinfection in cerebrospinal fluid from patients with community-acquired bacterial meningitis. (23559461)
2013
11
Complementary, holistic, and integrative medicine: depression, sleep disorders, and substance abuse. (22942367)
2012
12
Bronchogenic cyst: best time for surgery? (22884598)
2012
13
MK615, a Prunus mume Steb. Et Zucc ('Ume') extract, attenuates the growth of A375 melanoma cells by inhibiting the ERK1/2-Id-1 pathway. (22076920)
2012
14
Therapy of encephalopathy with status epilepticus during sleep (ESES/CSWS syndrome): an update. (22426353)
2012
15
Clinical significance of the plasminogen activator system in relation to grade of tumor and treatment response in colorectal carcinoma patients. (21744990)
2011
16
Treatment of severe neutropenia with high-dose pyridoxine in a patient with chronic graft versus host disease and squamous cell carcinoma: a case report. (21838907)
2011
17
Efficacy and complications of neurosurgical treatment of acromegaly. (21107739)
2011
18
Membrane localization of insulin receptor substrate-2 (IRS-2) is associated with decreased overall survival in breast cancer. (21258861)
2011
19
Array CGH in molecular diagnosis of mental retardation - A study of 150 Finnish patients. (20503314)
2010
20
Differential expression of the LOX family genes in human colorectal adenocarcinomas. (19724858)
2009
21
Use of oral dimercaptosuccinic acid (succimer) in adult patients with inorganic lead poisoning. (19700440)
2009
22
Antibiotics for acute maxillary sinusitis. (20141093)
2009
23
Bone morphogenetic protein (BMP)-responsive elements located in the proximal and distal hepcidin promoter are critical for its response to HJV/BMP/SMAD. (19229506)
2009
24
The small variant of the apoptosis-associated X-chromosome RBM10 gene is co-expressed with caspase-3 in breast cancer. (18820371)
2008
25
Primary plasmacytoma of the uterine cervix treated with three-dimensional conformal radiotherapy. (19122936)
2008
26
Nonsense mutations in the hairless gene underlie APL in five families of Pakistani origin. (17869066)
2007
27
Ribozyme-mediated selective killing of cancer cells expressing carcinoembryonic antigen RNA by targeted trans-splicing. (16945335)
2006
28
Glycoprotein Ibalpha-mediated platelet adhesion and aggregation to immobilized thrombin under conditions of flow. (16357309)
2006
29
The control of allergic conjunctivitis by suppressor of cytokine signaling (SOCS)3 and SOCS5 in a murine model. (16210657)
2005
30
Phosphoproteome profiling of transforming growth factor (TGF)-beta signaling: abrogation of TGFbeta1-dependent phosphorylation of transcription factor-II-I (TFII-I) enhances cooperation of TFII-I and Smad3 in transcription. (16055503)
2005
31
C reactive protein: protecting from lupus in familial Mediterranean fever. (15834062)
2005
32
Visualization of the uptake of individual HDL particles in living cells via the scavenger receptor class B type I. (15509885)
2004
33
Successful treatment of long-segmental tuberculous tracheal stenosis with combined Mongomery T-stent and Hood stent. (17670257)
2004
34
Modular construction of a signaling scaffold: MORG1 interacts with components of the ERK cascade and links ERK signaling to specific agonists. (15118098)
2004
35
Serum levels of adhesion molecules correlate with insulin resistance. (11882338)
2002
36
Neutrophil accumulation around Onchocerca worms and chemotaxis of neutrophils are dependent on Wolbachia endobacteria. (11377205)
2001
37
Immunohistochemical localization of guinea-pig leukotriene B4 12-hydroxydehydrogenase/15-ketoprostaglandin 13-reductase. (11733004)
2001
38
Detection of mycobacteria in the bloodstream of patients with acquired immunodeficiency syndrome in a university hospital in Brazil. (11779451)
2001
39
Natriuretic peptides stimulate cyclic guanosine monophosphate production in human saphenous vein and internal mammary artery. (10731654)
2000
40
Esophageal tuberculosis. Endoscopic cytology as a diagnostic tool. (10578982)
1999
41
Characterization of the human myeloid IgA Fc receptor I (CD89) gene in a cosmid clone. (10380711)
1999
42
Genomic organization, sequence, and chromosomal localization of the human helix-loop-helix Id1 gene. (9070860)
1997
43
Lipoperoxidase activity of Pityrosporum: characterisation of by-products and possible rA'le in pityriasis versicolor. (8624612)
1996
44
Noma: a review. (8988783)
1996
45
Paraplegia and congenital contractures as a consequence of intrauterine trauma. (1621769)
1992
46
Evaluation of carcinoembryonic antigen, tissue polypeptide antigen, and squamous cell carcinoma antigen in the detection of cervical cancers. (1326391)
1992
47
Discoid lupus erythematosus associated with the anticardiolipin syndrome. (2713265)
1989
48
Molecular defect of spectrin in hereditary pyropoikilocytosis. Alterations in the trypsin-resistant domain involved in spectrin self-association. (7130392)
1982
49
Postoperative acute acalculous cholecystitis--an assessment of diagnostic procedures. (7380156)
1980
50
Assignment of the gene for human uridine monophosphate kinase to chromosome 1 using somatic cell hybrid clone panels. (172293)
1975

Variations for Dowling-Degos Disease

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Expression for genes affiliated with Dowling-Degos Disease

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

Pathways for genes affiliated with Dowling-Degos Disease

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

idSuper pathwaysScoreTop Affiliating Genes
110.1POFUT1, POGLUT1
29.7NOTCH1, NOTCH2
39.5NOTCH1, NOTCH2, POFUT1
4
Show member pathways
9.5NOTCH1, NOTCH2, POFUT1
5
Show member pathways
9.5ADAM10, NOTCH1, NOTCH2
69.3ATP2A2, NOTCH1, NOTCH2
7
Show member pathways
9.3ATP2A2, NOTCH1, NOTCH2
8
Show member pathways
8.9ATP2A2, NOTCH1, NOTCH2, POFUT1, POGLUT1
9
Show member pathways
8.7ADAM10, ATP2A2, NOTCH1, NOTCH2, POFUT1, POGLUT1

GO Terms for genes affiliated with Dowling-Degos Disease

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

idNameGO IDScoreTop Affiliating Genes
1keratin filamentGO:004509510.0KRT14, KRT5

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

(show all 8)
idNameGO IDScoreTop Affiliating Genes
1hemidesmosome assemblyGO:003158110.4KRT14, KRT5
2regulation of Notch signaling pathwayGO:000859310.1NOTCH1, POGLUT1
3Notch signaling involved in heart developmentGO:006131410.0NOTCH1, NOTCH2
4positive regulation of viral genome replicationGO:004507010.0ADAR, NOTCH1
5pulmonary valve morphogenesisGO:00031849.9NOTCH1, NOTCH2
6regulation of developmental processGO:00507939.9NOTCH1, NOTCH2
7Notch signaling pathwayGO:00072199.3ADAM10, NOTCH1, NOTCH2, POFUT1
8Notch receptor processingGO:00072209.2ADAM10, NOTCH1, NOTCH2

Sources for Dowling-Degos Disease

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet