DDD1
MCID: DWL002
MIFTS: 51

Dowling-Degos Disease 1 (DDD1)

Categories: Genetic diseases, Metabolic diseases, Rare diseases, Skin diseases
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Aliases & Classifications for Dowling-Degos Disease 1

MalaCards integrated aliases for Dowling-Degos Disease 1:

Name: Dowling-Degos Disease 1 57 73 28 5 38
Reticular Pigment Anomaly of Flexures 57 73 5
Ddd1 57 73
Ddd 57 73
Dowling-Degos Disease 71
Hyperpigmentation 71

Characteristics:


Inheritance:

Autosomal dominant 57

OMIM®:

57 (Updated 08-Dec-2022)
Miscellaneous:
onset after puberty
reticulate acropigmentation of kitamura (hyperpigmentation found primarily in hands and feet)


Classifications:



External Ids:

OMIM® 57 179850
OMIM Phenotypic Series 57 PS179850
UMLS 71 C0162834 C3714534

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) (Updated 08-Dec-2022)

MalaCards based summary: Dowling-Degos Disease 1, also known as reticular pigment anomaly of flexures, is related to microphthalmia and pheochromocytoma. An important gene associated with Dowling-Degos Disease 1 is KRT5 (Keratin 5), and among its related pathways/superpathways are Disease and Signal Transduction. The drugs Clindamycin and Azelaic acid have been mentioned in the context of this disorder. Affiliated tissues include skin, breast and eye, and related phenotypes are progressive reticulate hyperpigmentation and growth/size/body region

UniProtKB/Swiss-Prot: 73 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 253)
# Related Disease Score Top Affiliating Genes
1 microphthalmia 29.3 TYRP1 TYR POMC MITF KIT
2 pheochromocytoma 29.2 POMC MITF KIT EDN1
3 membranoproliferative glomerulonephritis 11.4
4 c3 glomerulopathy 11.4
5 dowling-degos disease 2 11.2
6 degenerative disc disease 11.1
7 dowling-degos disease 11.0
8 acne inversa, familial, 2, with or without dowling-degos disease 11.0
9 complement factor h deficiency 10.9
10 atrioventricular block 10.7
11 sick sinus syndrome 10.6
12 conn's syndrome 10.6
13 third-degree atrioventricular block 10.6
14 adrenal cortical carcinoma 10.6
15 pituitary-dependent cushing's disease 10.5
16 adrenocortical carcinoma, hereditary 10.4
17 hypertrophic cardiomyopathy 10.4
18 syncope 10.3
19 reticulate acropigmentation of kitamura 10.3 KRT5 ADAM10
20 premature ovarian failure 7 10.3
21 albinism, oculocutaneous, type ia 10.3 TYRP1 TYR
22 adrenal carcinoma 10.2
23 acute contagious conjunctivitis 10.2 TYRP1 TYR
24 laryngeal adenoid cystic carcinoma 10.2 KRT5 KIT
25 lymphoepithelioma-like thymic carcinoma 10.2 KRT5 KIT
26 melanoma, cutaneous malignant 8 10.2 TYR MITF
27 acute conjunctivitis 10.2 TYRP1 TYR
28 albinism, oculocutaneous, type ib 10.2 TYRP1 TYR
29 ceruminous adenocarcinoma 10.2 KRT5 KIT
30 adult type testicular granulosa cell tumor 10.2 KRT5 KIT
31 cutaneous leiomyosarcoma 10.2 KRT5 KIT
32 ureter small cell carcinoma 10.2 KRT5 KIT
33 spinal cord melanoma 10.2 TYR MITF
34 cardiomyopathy, familial hypertrophic, 1 10.2
35 mitral valve insufficiency 10.2
36 breast adenoid cystic carcinoma 10.2 KRT5 KIT
37 uterus perivascular epithelioid cell tumor 10.2 TYR MITF
38 breast leiomyosarcoma 10.2 KRT5 KIT
39 breast sarcoma 10.2 KRT5 KIT
40 albinism, oculocutaneous, type iv 10.2 TYRP1 TYR
41 central nervous system melanocytic neoplasm 10.2 TYR KIT
42 epithelioid cell melanoma 10.2 TYR MITF
43 epithelial-myoepithelial carcinoma 10.2 KRT5 KIT
44 thymus large cell carcinoma 10.2 KRT5 KIT
45 breast malignant phyllodes tumor 10.2 KRT5 KIT
46 cribriform carcinoma 10.2 KRT5 KIT
47 deafness, autosomal dominant 69 10.2 KITLG KIT
48 lymphoepithelioma-like carcinoma 10.2 KRT5 KIT
49 basaloid squamous cell carcinoma 10.2 KRT5 KIT
50 extracutaneous mastocytoma 10.2 KITLG KIT

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

Human phenotypes related to Dowling-Degos Disease 1:

30
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 progressive reticulate hyperpigmentation 30 HP:0007456

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
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 (Updated 08-Dec-2022)

MGI Mouse Phenotypes related to Dowling-Degos Disease 1:

45 (show all 25)
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.39 ADAM10 EDN1 FGFR3 GNAS IKBKG KIT
2 nervous system MP:0003631 10.38 ADAM10 EDN1 FGFR3 GNAS KIT KITLG
3 homeostasis/metabolism MP:0005376 10.38 ADAM10 EDN1 FGFR3 GNAS IKBKG KIT
4 pigmentation MP:0001186 10.28 ADAM10 IKBKG KIT KITLG MITF POMC
5 endocrine/exocrine gland MP:0005379 10.28 ADAM10 EDN1 GNAS IKBKG KIT KITLG
6 neoplasm MP:0002006 10.27 FGFR3 GNAS IKBKG KIT KITLG POMC
7 normal MP:0002873 10.26 ADAM10 EDN1 FGFR3 GNAS IKBKG KIT
8 craniofacial MP:0005382 10.24 ADAM10 EDN1 FGFR3 GNAS KIT KITLG
9 cellular MP:0005384 10.22 ADAM10 FGFR3 GNAS IKBKG KIT KITLG
10 hearing/vestibular/ear MP:0005377 10.21 EDN1 FGFR3 GNAS KIT KITLG MITF
11 renal/urinary system MP:0005367 10.19 EDN1 FGFR3 GNAS KIT MITF POMC
12 liver/biliary system MP:0005370 10.19 GNAS IKBKG KIT KITLG MITF POMC
13 immune system MP:0005387 10.18 ADAM10 FGFR3 GNAS IKBKG KIT KITLG
14 behavior/neurological MP:0005386 10.17 FGFR3 GNAS IKBKG KIT KRT5 MITF
15 digestive/alimentary MP:0005381 10.16 ADAM10 EDN1 FGFR3 GNAS IKBKG KIT
16 no phenotypic analysis MP:0003012 10.15 FGFR3 GNAS KIT MITF POMC STK11
17 embryo MP:0005380 10.13 ADAM10 EDN1 GNAS KIT KITLG MITF
18 limbs/digits/tail MP:0005371 10.12 FGFR3 GNAS KIT KITLG KRT5 MITF
19 cardiovascular system MP:0005385 10.11 ADAM10 EDN1 GNAS IKBKG KIT KITLG
20 reproductive system MP:0005389 10.07 ADAM10 FGFR3 IKBKG KIT KITLG MITF
21 skeleton MP:0005390 10.02 ADAM10 EDN1 FGFR3 GNAS KIT KITLG
22 vision/eye MP:0005391 9.91 FGFR3 GNAS KIT KITLG MITF RBP1
23 hematopoietic system MP:0005397 9.9 ADAM10 FGFR3 GNAS IKBKG KIT KITLG
24 mortality/aging MP:0010768 9.77 ADAM10 EDN1 FGFR3 GNAS IKBKG KIT
25 integument MP:0010771 9.4 ADAM10 FGFR3 GNAS IKBKG KIT KITLG

Drugs & Therapeutics for Dowling-Degos Disease 1

Drugs for Dowling-Degos Disease 1 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 65)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Clindamycin Approved, Vet_approved Phase 4 18323-44-9, 24729-96-2 29029
2
Azelaic acid Approved Phase 4 123-99-9 2266
3
Nicotinamide Approved, Investigational Phase 4 98-92-0 936
4
Desonide Approved, Investigational Phase 4 638-94-8 5311066
5
Trifarotene Approved, Investigational Phase 4 895542-09-3 11518241
6
Ascorbic acid Approved, Nutraceutical Phase 4 50-81-7 54676860 54670067 5785
7
Isotretinoin Approved, Investigational, Nutraceutical Phase 4 302-79-4, 4759-48-2 5538 444795 5282379
8
Folic acid Approved, Nutraceutical, Vet_approved Phase 4 59-30-3 6037
9
Niacin Approved, Investigational, Nutraceutical Phase 4 59-67-6 938
10 Anti-Bacterial Agents Phase 4
11 Anti-Infective Agents Phase 4
12 Clindamycin, tretinoin drug combination Phase 4
13
Clindamycin phosphate Phase 4 32603
14 Clindamycin palmitate Phase 4
15 Vitamins Phase 4
16 Keratolytic Agents Phase 4
17 Anti-Inflammatory Agents Phase 4
18 Folate Phase 4
19 Vitamin B9 Phase 4
20 Vitamin B3 Phase 4
21 Nicotinic Acids Phase 4
22 Antimetabolites Phase 4
23 Vasodilator Agents Phase 4
24 Vitamin B Complex Phase 4
25 Hypolipidemic Agents Phase 4
26 Lipid Regulating Agents Phase 4
27 Dermatologic Agents Phase 4
28
Tranexamic acid Approved Phase 2, Phase 3 1197-18-8 5526
29 Hemostatics Phase 2, Phase 3
30 Antifibrinolytic Agents Phase 2, Phase 3
31 Coagulants Phase 2, Phase 3
32
Hydroquinone Approved, Investigational Phase 2 123-31-9 785
33
Edetate calcium disodium anhydrous Approved, Vet_approved Phase 1, Phase 2 62-33-9, 60-00-4 6049
34
Iron Approved Phase 1, Phase 2 7439-89-6 29936
35
Zinc cation Approved, Experimental, Investigational Phase 1, Phase 2 7440-66-6, 23713-49-7 32051
36
Pentetic acid Approved Phase 1, Phase 2 67-43-6
37
Ruboxistaurin Investigational Phase 2 169939-94-0 9892366 153999
38 Sunscreening Agents Phase 2
39 Radiation-Protective Agents Phase 2
40 Antioxidants Phase 2
41 Protective Agents Phase 1, Phase 2
42 Trace Elements Phase 1, Phase 2
43 Micronutrients Phase 1, Phase 2
44 Pharmaceutical Solutions Phase 1, Phase 2
45 Hormones Phase 1, Phase 2
46 Iron Chelating Agents Phase 1, Phase 2
47 Antidotes Phase 1, Phase 2
48 Calcium, Dietary Phase 1, Phase 2
49 Anticoagulants Phase 1, Phase 2
50 Chelating Agents Phase 1, Phase 2

Interventional clinical trials:

(show all 50)
# Name Status NCT ID Phase Drugs
1 Efficacy & Safety of Clindamycin Phosphase 1.2% and Tretinoin 0.025% Gel vs. Vehicle for the Treatment of Acne and Acne-Induced Post Inflammatory Hyperpigmentation in Patients With Skin of Color Unknown status NCT01111994 Phase 4 Clindamycin Phosphate 1.2% and Tretinoin 0.025% Gel
2 Ascorbic Acid Versus Diode Laser in the Treatment of Gingival Hyperpigmentation: Histological and Clinical Randomized Study Completed NCT03252418 Phase 4 Ascorbic Acid 500 MG
3 A Single Blind, Placebo Controlled Trial to Evaluate Effects of a Study Medication, a Nu Skin Lightening Product With and Without Iontophoresis vs Tretinoin Cream vs Vehicle Control for Facial Hyperpigmentation Completed NCT01149876 Phase 4 Tretinoin cream 0.05
4 Efficacy and Safety of Finacea in the Treatment of Post-Inflammatory Hyperpigmentation and Acne Vulgaris Completed NCT01038869 Phase 4 Azelaic acid
5 A Double Blind, Randomized Clinical Trial of 4% Niacinamide Versus 0.05% Desonide for the Treatment of Axillar Hyperpigmentation Completed NCT01542138 Phase 4 Desonide;Niacinamide;Placebo
6 A Clinical Usage Study to Evaluate the Safety and Efficacy of an Herbal-Based De-Pigmenting System Completed NCT02138539 Phase 4 Hydroquinone
7 The Use of Onexton in Moderate Acne Vulgaris for Patients With Skin of Color Completed NCT03402893 Phase 4 ONEXTON Topical Gel
8 Evaluation of Acne-induced Hyperpigmentation During Treatment of Acne Vulgaris Subjects With Trifarotene 50 μg/g Cream Versus Vehicle Cream Over 24 Weeks Active, not recruiting NCT05089708 Phase 4 Trifarotene Cream;Trifarotene Vehicle Cream
9 Evaluation of the Therapeutic Effect of Platelet Rich Plasma (PRP) in Periorbital Hyperpigmentation(POH) Unknown status NCT03862118 Phase 3
10 Topical 5% Tranexamic Acid as a Treatment for Postinflammatory Hyperpigmentation Due to Acne Vulgaris Terminated NCT03361345 Phase 2, Phase 3 Tranexamic Acid;Vehicle
11 A Prospective Multicentric Open Label Randomized Bio-Interventional Phase I/II Pilot Study To Evaluate Safety & Efficacy Of Autologous Human Platelet Lysate (HPL) for Treatment of Periorbital Hyperpigmentation (Dark Circles) Unknown status NCT01644448 Phase 1, Phase 2
12 Long Term Effects on Skin Hyper Pigmentation With and Without Mesenchymal Stem Cell Enriched Adipose Tissue Grafting for "Contour Deformities With Pigmentary Changes on Face" Unknown status NCT03564808 Phase 2 MSC
13 A Randomized, Observer-Blinded, Vehicle-Controlled Study on the Safety and Efficacy of Twice Daily Application of Ruboxistaurin (DBI-102) Gel Vs.Vehicle Gel Vs. Hydroquinone Cream on Sun-Exposed and Sun-Protected Skin of Adults Recruiting NCT05511948 Phase 2 DBI-102;Vehicle gel;Hydroquinone Cream
14 Evaluation of the Depigmenting Effect of Liftactiv B3 Serum (Split Face) in Patients With Mild to Moderate Facial Post-acne PIHP for 3 Months Recruiting NCT05327361 Phase 2 Liftactiv B3
15 Investigator Initiated Investigational New Drug Application to Study the Effects of IV-Administered Ca-DTPA and Zn-DTPA To Treat Patients With Gadolinium Deposition Disease Terminated NCT02947022 Phase 1, Phase 2 Calcium DTPA;Zinc DTPA
16 Tranexamic Acid Versus Fractional CO2 Laser in Post-inflammatory Hyperpigmentation in Acne Patients Unknown status NCT03765021 Tranexamic Acid
17 Can Intravenous Vitamin C Improve Skin Hyperpigmentation in Long-Term Hemodialysis Patients? Unknown status NCT00172302 vitamin C, intravenous injection
18 Nanofat on Wound Healing and Scar Formation: a Randomized, Split-scar, Double Blind Trial Unknown status NCT03850119
19 Clinical, Histological and Biochemical Characterization of Hyperpigmented Lesion. Unknown status NCT01136629
20 Gingival Depigmentation With Er,Cr:YSGG and Diode Laser: Randomized Clinical Trial to Evaluate the Repigmentation and Patient Perceptions Completed NCT04680806
21 A Randomized Controlled Trial on the Effectiveness of Epidermal Growth Factor-containing Ointment on the Treatment of Solar Lentigines as Adjuvant Therapy Completed NCT04704245 epidermal growth factor (EGF)-containing ointment;Vehicle ointment
22 A Combination of a Dermocosmetic and a Tainted Sunscreen Reduce Acne Severity and Signs of Post-inflammatory Hyperpigmentation in Subjects With a Fitzpatrick Phototype Ranging From IV to VI Completed NCT05601960
23 Efficacy and Safety of Combined Microneedling With Topical Glutathione Versus Carboxy Therapy in Treatment of Patients With Periorbital Hyperpigmentation Completed NCT04389788
24 Minimally Invasive Non-surgical Vitamin C Injection Versus the Conventional Surgical Depigmentation in Treatment of Gingival Hyperpigmentation of the Anterior Esthetic Zone: Prospective Study Completed NCT03719274
25 A Randomized, Evaluator-Blinded Clinical Study to Evaluate the Efficacy and Tolerability of an Investigational Light Therapy Mask on Subjects With Mild to Moderate Mottled Hyperpigmentation and Moderate to Severe Facial Wrinkles Completed NCT03312543
26 Topical Tranexamic Acid Versus Topical Vitamin C With Microneedling in Periorbital Hyperpigmentation; Comparative Study Completed NCT04697992 vitamin c 20%;Tranexamic acid 5mg/ml
27 Efficacy and Tolerability of an Isobutylamido-thiazolyl-resorcinol Cream 0.2% for Facial Hyperpigmentation, A Randomized Double-blind and Vehicle-Controlled Study Completed NCT03926845
28 Effect of Topical Corticosteroids on the Incidence of Postinflammatory Hyperpigmentation Following Q-switched Nd:YAG 532 nm Laser for Treatment of Facial Lentigines - A Pilot Study Completed NCT02492373 topical 0.05% Clobetasol propionate ointment
29 Effect of Cold Air Cooling on the Incidence of Post Inflammatory Hyperpigmentation Following a Q-Switched Nd:YAG Laser Treatment of Acquired Bilateral Nevus of Ota-Like Macules Completed NCT00287001
30 Efficacy of Platelet-Rich Plasma (PRP) in the Treatment of Periorbital Hyperpigmentation Completed NCT03114514
31 PHNA, Efficacy of Tretinoin Cream on Post-phototherapy Hyperpigmentation Completed NCT03933774 Tretinoin 0.05% cream;Placebo cream
32 An In Vivo Model for Postinflammatory Hyperpigmentation: Part II Completed NCT02905903 Tricholoacetic Acid (TCA)
33 A Multi-Center Clinical Trial to Evaluate the Efficacy and Tolerability for Treatment of Facial Hyperpigmentation and Photodamaged Skin With a Dual Regimen Treatment Containing Vitamin C and a Tinted SPF 45 Moisturizer Completed NCT05423873
34 Efficacy and Safety of Biocellulose Sheet From Coconut Juice Containing Anti-hyperpigmentation Agent ("Biocellulose Mask", "Farhorm®") in Patients Receiving Laser Treatment Completed NCT01806831
35 Randomized, Double-Blind Evaluation of Maple Leaf Extract (Maplifa) for Photoaging Completed NCT04586816
36 Eye Dark Circles: Physiopathologic Aspects and Influence on Quality of Life in Subjects of Various Ethnicities and Fitzpatrick Skin Types Utilizing Non-invasive In Vivo Instrumentation and Validated Questionnaires Completed NCT03400202
37 Identification of Gene Biomarkers in Aging Skin; a Blinded, Prospective, Single-center, Clinical Study Completed NCT00884936
38 Efficacy and Tolerance of D-pigment Versus Moisturizer in Hands' Lentigo Lesions With or Without Laser Therapy Completed NCT03457246
39 Clinical Trial Study for the Use of Straberi Epistamp Needling Device to Treat Postinflammatory Hyperpigmentation (PIH) Recruiting NCT04740255
40 Comparison of the Effectiveness of Brightening Creams vs Laser Therapy (QS Nd:YAG 1064nm Laser) in Skin Hyperpigmentation After Sclerotherapy by Objective Measurement: A Randomized Controlled Monocentric Trial Recruiting NCT05165524 Triple cream
41 Efficacy and Safety of Topical Cysteamine for Postinflammatory Hyperpigmentation: A Randomized Control, Double Blinded-trial Recruiting NCT05206318 Topical Cysteamine;Topical Vehicle Control
42 Characterization of Dyschromic Hypertrophic Scar: An Observational Clinical Trial Recruiting NCT04619589
43 Combined Q-switched Nd:YAG Laser and Platelet Rich Plasma Versus Q- Switched Nd:YAG Laser Alone in the Treatment of Melasma: A Split Face Study. Recruiting NCT04765930
44 The DBCG RT Natural Trial: Partial Breast Versus no Irradiation for Women >=60 Years Operated With Breast Conservation for an Early Breast Cancer: a Clinically Controlled Randomized Phase III Trial Recruiting NCT03646955
45 Comparison Of Aesthetic Techniques For Rejuvenation Of Genital Region: A Randomized Clinical Trial Recruiting NCT04998578
46 Efficacy and Tolerability of a Hybrid Fractional Laser for the Treatment of Acne Scars in Patients With Skin of Color Not yet recruiting NCT05362929
47 Evaluation of the Tolerance and Performance of Cyto-selective Difluoroethane-based Cryotherapy in the Treatment of Brown Spots (Solar and Senile Lentigines, Post-inflammatory Hyperpigmentation) Not yet recruiting NCT05625815
48 Quantifying Hyperpigmentation Response to Fractionated 1927nm in Fitzpatrick Skin Phototype V and VI: A Pilot Study Not yet recruiting NCT05493280
49 Evaluation of the Tolerance of Cyto-selective Difluoroethane-based Cryotherapy in the Treatment of Post-inflamamatory Hyperpigmentation (PIH). Not yet recruiting NCT05495503
50 In Vivo Imaging of Pigmentary Disorders by Reflectance Confocal Microscopy Terminated NCT00771355

Search NIH Clinical Center for Dowling-Degos Disease 1

Inferred drug relations via UMLS 71 / NDF-RT 50 :


hydroquinone

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

Organs/tissues related to Dowling-Degos Disease 1:

MalaCards : Skin, Breast, Eye, Pituitary
ODiseA: Skin

Publications for Dowling-Degos Disease 1

Articles related to Dowling-Degos Disease 1:

(show top 50) (show all 73)
# Title Authors PMID Year
1
Systematic mutation screening of KRT5 supports the hypothesis that Galli-Galli disease is a variant of Dowling-Degos disease. 57 5
20222933 2010
2
Loss-of-function mutations in the keratin 5 gene lead to Dowling-Degos disease. 57 5
16465624 2006
3
Whole-exome sequencing identifies ADAM10 mutations as a cause of reticulate acropigmentation of Kitamura, a clinical entity distinct from Dowling-Degos disease. 5
23666529 2013
4
Mutations in POFUT1, encoding protein O-fucosyltransferase 1, cause generalized Dowling-Degos disease. 57
23684010 2013
5
The spectrum of reticulate pigment disorders of the skin revisited. 57
23018017 2012
6
Coexistent Dowling-Degos disease and reticulate acropigmentation of kitamura with progressive seborrheic keratosis. 57
21416772 2011
7
Enhanced cytoplasmic expression of desmocollin 3 in epidermal rete ridges of Dowling-Degos syndrome. 5
14674915 2003
8
Reticulate acropigmentation of Kitamura-Dowling Degos disease overlap: a case report. 57
12207773 2002
9
Overlap of reticulate acropigmentation of Kitamura, acropigmentation of Dohi and Dowling-Degos disease in four generations. 57
9621148 1998
10
Co-existence of leukoderma with features of Dowling-Degos disease: reticulate acropigmentation of Kitamura spectrum in five unrelated patients. 57
9529553 1997
11
The genetic basis of epidermolysis bullosa simplex with mottled pigmentation. 57
8799157 1996
12
[Dowling-Degos disease with exclusively genital manifestations]. 57
1628971 1992
13
Dowling-Degos disease and Kitamura's reticulate acropigmentation: support for the concept of a single disease. 57
1911300 1991
14
[Dowling-Degos disease--an autosomal dominant genetic dermatosis]. 5
3188604 1988
15
Is Dowling-Degos disease the same disease as Kitamura's reticulate acropigmentation? 57
6860566 1983
16
Dowling-Degos disease (reticulate pigmented anomaly of the flexures) is an autosomal dominant condition. 57
6838773 1983
17
Reticular pigmented anomaly of the flexures. 57
629578 1978
18
NEMO gene mutations in Chinese patients with incontinentia pigmenti. 53
20434027 2010
19
The involvement of alpha-melanocyte-stimulating hormone in the hyperpigmentation of human skin autografts. 53
20006446 2010
20
Acetylcholinesterase, butyrylcholinesterase, and tyrosinase inhibition studies and antioxidant activities of 33 Scutellaria L. taxa from Turkey. 53
20026160 2010
21
Melanoma hyperpigmentation is strongly associated with KIT alterations. 53
19652585 2009
22
Inhibitory effects of arbutin on melanin biosynthesis of alpha-melanocyte stimulating hormone-induced hyperpigmentation in cultured brownish guinea pig skin tissues. 53
19387580 2009
23
[Factors affecting melanogenesis and methods used for identification of pigmentation disorders]. 53
18942345 2008
24
Anemonin is a natural bioactive compound that can regulate tyrosinase-related proteins and mRNA in human melanocytes. 53
17766092 2008
25
Novel splice isoforms of STRADalpha differentially affect LKB1 activity, complex assembly and subcellular localization. 53
17921699 2007
26
GNAS transcripts in skeletal progenitors: evidence for random asymmetric allelic expression of Gs alpha. 53
17566083 2007
27
Preparative isolation and identification of tyrosinase inhibitors from the seeds of Garcinia kola by high-speed counter-current chromatography. 53
17367799 2007
28
Persistent bilateral hyperpigmentation caused by local stem cell factor injection. 53
17374016 2007
29
[Effects of Malassezia isolates on cytokines production associated with melanogenesis by keratinocytes]. 53
17536267 2007
30
Glucosamine: an ingredient with skin and other benefits. 53
17716251 2006
31
Tyrosinase inhibition studies of cycloartane and cucurbitane glycosides and their structure-activity relationships. 53
16716596 2006
32
Human mast cells in the neurohormonal network: expression of POMC, detection of precursor proteases, and evidence for IgE-dependent secretion of alpha-MSH. 53
16675966 2006
33
Inhibitory kinetics of paeonol on the activity of mushroom tyrosinase oxidizing L-dopa. 53
16927833 2006
34
The dermal stem cell factor and c-kit are overexpressed in melasma. 53
16704639 2006
35
Café-au-lait spots in neurofibromatosis type 1 and in healthy control individuals: hyperpigmentation of a different kind? 53
16479403 2006
36
Sporadic somatic mutation of c-kit gene in a family with gastrointestinal stromal tumors without cutaneous hyperpigmentation. 53
16586562 2006
37
Discovery of benzylidenebenzofuran-3(2H)-one (aurones) as inhibitors of tyrosinase derived from human melanocytes. 53
16392817 2006
38
Triazine-based tyrosinase inhibitors identified by chemical genetic screening. 53
16280010 2005
39
Inhibition of skin pigmentation by an extract of Lepidium apetalum and its possible implication in IL-6 mediated signaling. 53
16280009 2005
40
Biostimulation of dermal fibroblast by sublethal Q-switched Nd:YAG 532 nm laser: collagen remodeling and pigmentation. 53
16019220 2005
41
Pigmentation in basal cell carcinoma involves enhanced endothelin-1 expression. 53
15946241 2005
42
Pigmented eccrine poroma with enhanced endothelin-1 expression: implications for mechanism of hyperpigmentation. 53
15888178 2005
43
Novel c-KIT germline mutation in a family with gastrointestinal stromal tumors and cutaneous hyperpigmentation. 53
15742474 2005
44
Epidermal hyperpigmentation in non-syndromic solitary cafe-au-lait macules may be associated with increased secretion of endothelin-1 by lesional keratinocytes. 53
16208783 2005
45
Adrenocorticotropin hypersecretion and pituitary microadenoma following bilateral adrenalectomy in a patient with classic 21-hydroxylase deficiency. 53
15679075 2005
46
The epidermal stem cell factor is over-expressed in lentigo senilis: implication for the mechanism of hyperpigmentation. 53
15140230 2004
47
Chalcones as potent tyrosinase inhibitors: the effect of hydroxyl positions and numbers. 53
15231412 2004
48
Autocrine and paracrine regulation of melanocytes in human skin and in pigmentary disorders. 53
15016298 2004
49
Pleomorphic characteristics of a germ-line KIT mutation in a large kindred with gastrointestinal stromal tumors, hyperpigmentation, and dysphagia. 53
14977822 2004
50
A patient with extensive stem cell factor-induced hyperpigmentation. 53
12635896 2003

Variations for Dowling-Degos Disease 1

ClinVar genetic disease variations for Dowling-Degos Disease 1:

5
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 KRT5 NM_000424.4(KRT5):c.14C>A (p.Ser5Ter) SNV Pathogenic
14647 rs58751565 GRCh37: 12:52914067-52914067
GRCh38: 12:52520283-52520283
2 KRT5 NM_000424.4(KRT5):c.418dup (p.Ile140fs) DUP Pathogenic
66235 rs61348424 GRCh37: 12:52913662-52913663
GRCh38: 12:52519878-52519879
3 ADAM10 NM_001110.4(ADAM10):c.415C>T (p.Pro139Ser) SNV Pathogenic
88839 rs483352912 GRCh37: 15:58971392-58971392
GRCh38: 15:58679193-58679193
4 ADAM10 NM_001110.4(ADAM10):c.1511G>A (p.Ser504Asn) SNV Pathogenic
88840 rs483352913 GRCh37: 15:58913670-58913670
GRCh38: 15:58621471-58621471
5 ADAM10 NM_001110.4(ADAM10):c.429T>A (p.Tyr143Ter) SNV Pathogenic
88841 rs483352914 GRCh37: 15:58971378-58971378
GRCh38: 15:58679179-58679179
6 ADAM10 NM_001110.4(ADAM10):c.1264del (p.Thr422fs) DEL Pathogenic
88842 rs483352915 GRCh37: 15:58919995-58919995
GRCh38: 15:58627796-58627796
7 ADAM10 NM_001110.4(ADAM10):c.1571G>A (p.Cys524Tyr) SNV Pathogenic
88843 rs483352916 GRCh37: 15:58904131-58904131
GRCh38: 15:58611932-58611932
8 KRT5 NM_000424.4(KRT5):c.980T>C (p.Met327Thr) SNV Pathogenic
14641 rs58072617 GRCh37: 12:52911486-52911486
GRCh38: 12:52517702-52517702
9 KRT5 NM_000424.4(KRT5):c.224C>A (p.Ser75Tyr) SNV Uncertain Significance
982659 rs755413229 GRCh37: 12:52913857-52913857
GRCh38: 12:52520073-52520073

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)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.44 RBP1 POMC KITLG KIT IKBKG GNAS
2 13.22 STK11 POMC KITLG KIT IKBKG GNAS
3
Show member pathways
12.62 STK11 KITLG KIT IKBKG GNAS FGFR3
4
Show member pathways
12.57 FGFR3 IKBKG KIT KITLG STK11
5 12.56 KITLG KIT FGFR3 ADAM10
6
Show member pathways
12.38 MITF KIT IKBKG FGFR3
7 11.96 KIT IKBKG FGFR3
8 11.84 KITLG KIT FGFR3
9
Show member pathways
11.68 MITF KITLG KIT
10
Show member pathways
11.02 POMC EDN1
11 10.87 IKBKG GNAS
12 10.87 POMC MITF KITLG KIT
13 10.78 POMC FGFR3
14 10.47 TYRP1 TYR POMC MITF GNAS
15 10.02 TYRP1 TYR

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 9.7 TYRP1 TYR STK11 RBP1 POMC MITF
2 Golgi-associated vesicle GO:0005798 9.26 TYR ADAM10

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

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of cell population proliferation GO:0008284 10.13 KITLG KIT FGFR3 EDN1 ADAM10
2 cell-cell signaling GO:0007267 10.01 POMC FGFR3 EDN1 ADAM10
3 positive regulation of MAP kinase activity GO:0043406 9.85 EDN1 KIT KITLG
4 melanin biosynthetic process GO:0042438 9.76 TYRP1 TYR
5 anoikis GO:0043276 9.73 STK11 IKBKG
6 positive regulation of cAMP-mediated signaling GO:0043950 9.67 POMC GNAS
7 positive regulation of mast cell proliferation GO:0070668 9.62 KITLG KIT
8 mast cell proliferation GO:0070662 9.56 KITLG KIT
9 melanocyte migration GO:0097324 9.46 KITLG KIT
10 melanocyte differentiation GO:0030318 9.43 TYRP1 MITF KIT
11 pigmentation GO:0043473 9.1 TYRP1 TYR MITF KIT

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

# Name GO ID Score Top Affiliating Genes
1 tyrosinase activity GO:0004503 8.92 TYRP1 TYR

Sources for Dowling-Degos Disease 1

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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