DDD1
MCID: DWL002
MIFTS: 58

Dowling-Degos Disease 1 (DDD1)

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

Aliases & Classifications for Dowling-Degos Disease 1

MalaCards integrated aliases for Dowling-Degos Disease 1:

Name: Dowling-Degos Disease 1 56 73 29 6
Reticular Pigment Anomaly of Flexures 56 73
Hyperpigmentation 43 71
Ddd1 56 73
Ddd 56 73
Skin Diseases, Papulosquamous 43
Dowling-Degos Disease 71

Characteristics:

OMIM:

56
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 56 179850
OMIM Phenotypic Series 56 PS179850
SNOMED-CT via HPO 68 263681008
UMLS 71 C0162834 C3714534

Summaries for Dowling-Degos Disease 1

OMIM : 56 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 piebald trait and ochronosis. An important gene associated with Dowling-Degos Disease 1 is KRT5 (Keratin 5), and among its related pathways/superpathways are Signaling by GPCR and p70S6K Signaling. The drugs Clindamycin and Metformin 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 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 645)
# Related Disease Score Top Affiliating Genes
1 piebald trait 30.9 TYRP1 TYR MITF KITLG KIT
2 ochronosis 30.5 TYRP1 TYR MITF
3 albinism 30.3 TYRP1 TYR MITF
4 keratosis 30.1 TYR KRT5 KIT FGFR3
5 hypomelanosis of ito 30.0 TYR MITF KIT
6 oculocutaneous albinism 30.0 TYRP1 TYR MITF
7 extracutaneous mastocytoma 30.0 KITLG KIT
8 vitiligo-associated multiple autoimmune disease susceptibility 1 30.0 TYRP1 TYR POMC MITF KITLG
9 dysgerminoma of ovary 29.9 KITLG KIT
10 lentigines 29.9 TYR STK11 POMC MITF KIT
11 pigmentation disease 29.8 POMC KRT5 IKBKG FGFR3
12 skin disease 29.8 TYR MITF KRT5 FGFR3
13 cellulitis 29.8 TYRP1 TYR MITF
14 ocular albinism 29.8 TYRP1 TYR MITF
15 mastocytosis 29.6 MITF KITLG KIT
16 neurofibroma 29.5 TYR MITF KITLG KIT
17 melanocytic nevus syndrome, congenital 29.3 TYR STK11 KITLG EDN1
18 microphthalmia 29.2 TYRP1 TYR POMC MITF KIT FGFR3
19 adenocarcinoma 28.5 STK11 KIT GNAS FGFR3
20 lung cancer susceptibility 3 28.1 STK11 KRT5 KIT GNAS FGFR3
21 hyperpigmentation with or without hypopigmentation, familial progressive 12.7
22 familial progressive hyperpigmentation 12.7
23 hyperpigmentation, familial progressive, 1 12.6
24 hyperpigmentation of eyelids 12.4
25 hyperpigmentation of the skin 12.4
26 hyperkeratosis-hyperpigmentation syndrome 12.4
27 nevoid hypermelanosis, linear and whorled 12.3
28 nasal hyperpigmentation, familial transverse 12.3
29 extrasystoles, multiform ventricular, with short stature, hyperpigmentation and microcephaly 12.2
30 hyperpigmentation of fuldauer and kuijpers 12.1
31 extrasystoles short stature hyperpigmentation microcephaly 12.1
32 genetic hyperpigmentation of the skin 12.1
33 dense deposit disease 12.1
34 histiocytosis-lymphadenopathy plus syndrome 12.1
35 epidermolysis bullosa simplex with mottled pigmentation 11.8
36 c3 glomerulopathy 11.7
37 dermatopathia pigmentosa reticularis 11.7
38 membranoproliferative glomerulonephritis 11.7
39 tang hsi ryu syndrome 11.6
40 amyloidosis, primary localized cutaneous, 3 11.6
41 dowling-degos disease 11.6
42 familial glucocorticoid deficiency 11.6
43 incontinentia pigmenti 11.6
44 naegeli-franceschetti-jadassohn syndrome 11.5
45 acne inversa, familial, 2, with or without dowling-degos disease 11.5
46 degenerative disc disease 11.5
47 lichen planus pigmentosus 11.5
48 hypoadrenocorticism, familial 11.5
49 mastocytosis, cutaneous 11.5
50 polyposis, skin pigmentation, alopecia, and fingernail changes 11.5

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:

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

Symptoms via clinical synopsis from OMIM:

56
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

MGI Mouse Phenotypes related to Dowling-Degos Disease 1:

45 (show all 24)
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.39 EDN1 FGFR3 GNAS IKBKG KIT KITLG
2 behavior/neurological MP:0005386 10.36 FGFR3 GNAS IKBKG KIT KRT5 MITF
3 homeostasis/metabolism MP:0005376 10.33 EDN1 FGFR3 GNAS IKBKG KIT KITLG
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 EDN1 GNAS IKBKG KIT KITLG MITF
7 hematopoietic system MP:0005397 10.26 FGFR3 GNAS IKBKG KIT KITLG MITF
8 integument MP:0010771 10.26 FGFR3 GNAS IKBKG KIT KITLG KRT5
9 mortality/aging MP:0010768 10.26 EDN1 FGFR3 GNAS IKBKG KIT KITLG
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 liver/biliary system MP:0005370 10.1 GNAS IKBKG KIT KITLG MITF POMC
17 limbs/digits/tail MP:0005371 10.05 FGFR3 GNAS KIT KITLG KRT5 MITF
18 normal MP:0002873 9.97 EDN1 FGFR3 GNAS IKBKG KIT MITF
19 no phenotypic analysis MP:0003012 9.95 FGFR3 GNAS KIT MITF POMC STK11
20 pigmentation MP:0001186 9.92 IKBKG KIT KITLG MITF POMC RBP1
21 renal/urinary system MP:0005367 9.86 EDN1 FGFR3 GNAS KIT MITF POMC
22 reproductive system MP:0005389 9.81 FGFR3 IKBKG KIT KITLG MITF RBP1
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

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

(show top 50) (show all 205)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Clindamycin Approved, Vet_approved Phase 4 18323-44-9 29029
2
Metformin Approved Phase 4 657-24-9 14219 4091
3
Clotrimazole Approved, Vet_approved Phase 4 23593-75-1 2812
4
Miconazole Approved, Investigational, Vet_approved Phase 4 22916-47-8 4189
5
Nicotinamide Approved, Investigational Phase 4 98-92-0 936
6
Desonide Approved, Investigational Phase 4 638-94-8 5311066
7
Azelaic acid Approved Phase 4 123-99-9 2266
8
Betamethasone Approved, Vet_approved Phase 4 378-44-9 9782
9
Adapalene Approved Phase 4 106685-40-9 60164
10
Ketoconazole Approved, Investigational Phase 4 65277-42-1 47576
11
leucovorin Approved Phase 4 58-05-9 6006 143
12
Dapsone Approved, Investigational Phase 4 80-08-0 2955
13 Ixekizumab Approved, Investigational Phase 4 1143503-69-8
14 Brodalumab Approved, Investigational Phase 4 1174395-19-7
15
Tranexamic Acid Approved Phase 4 1197-18-8 5526
16
Ethanol Approved Phase 4 64-17-5 702
17
Hydroquinone Approved, Investigational Phase 4 123-31-9 785
18
Vitamin C Approved, Nutraceutical Phase 4 50-81-7 5785 54670067
19
Niacin Approved, Investigational, Nutraceutical Phase 4 59-67-6 938
20
Vitamin A Approved, Nutraceutical, Vet_approved Phase 4 22737-96-8, 68-26-8, 11103-57-4 9904001 445354
21
Folic acid Approved, Nutraceutical, Vet_approved Phase 4 59-30-3 6037
22
Tretinoin Approved, Investigational, Nutraceutical Phase 4 302-79-4 444795 5538
23 Clindamycin, tretinoin drug combination Phase 4
24 Clindamycin phosphate Phase 4
25 Clindamycin palmitate Phase 4
26 Hypoglycemic Agents Phase 4
27 Antifungal Agents Phase 4
28 Nicotinic Acids Phase 4
29 Vitamin B3 Phase 4
30 Vasodilator Agents Phase 4
31 Lipid Regulating Agents Phase 4
32 Hypolipidemic Agents Phase 4
33 Antimetabolites Phase 4
34 Radiation-Protective Agents Phase 4
35 Betamethasone Valerate Phase 4 2152-44-5
36 Calcipotriene Phase 4
37 Betamethasone-17,21-dipropionate Phase 4
38 Betamethasone sodium phosphate Phase 4
39 Betamethasone benzoate Phase 4
40 Retinol palmitate Phase 4
41 retinol Phase 4
42 Arnica Phase 4
43 Cytochrome P-450 Enzyme Inhibitors Phase 4
44 Cytochrome P-450 CYP3A Inhibitors Phase 4
45 Fibrin fragment D Phase 4
46 Defensins Phase 4
47 Vitamin B Complex Phase 4
48 Folate Phase 4
49 Vitamin B9 Phase 4
50 Hemostatics Phase 4

Interventional clinical trials:

(show top 50) (show all 135)
# 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 The Comparison of Picosecond 532 and 1,064 Nanometers Laser and Q-switched Nd:YAG 532 and 1,064 Nanometers Laser in the Treatment of Benign Pigmented Lesions: A Randomized Controlled Trial Unknown status NCT02800525 Phase 4
3 THE METFORMIN AND TRICHLOROACETIC ACID IN TREATMENT OF MELASMA Unknown status NCT03475524 Phase 4 MetFORMIN 1000 Mg Oral Tablet;Placebos;Trichloroacetic Acid Peeling;MetFORMIN 500 Mg Oral Tablet
4 Bimatoprost 0.03% Solution, NB-UVB and Fractional Carbon Dioxide Laser in Treatment of Generalized Vitiligo Unknown status NCT03487042 Phase 4 Bimatoprost 0.03% ophthalmic solution
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 The Use of Onexton in Moderate Acne Vulgaris for Patients With Skin of Color Completed NCT03402893 Phase 4 ONEXTON Topical Gel
7 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
8 Efficacy and Safety of Finacea in the Treatment of Post-Inflammatory Hyperpigmentation and Acne Vulgaris Completed NCT01038869 Phase 4 Azelaic acid
9 A Clinical Usage Study to Evaluate the Safety and Efficacy of an Herbal-Based De-Pigmenting System Completed NCT02138539 Phase 4 Hydroquinone
10 Ascorbic Acid Versus Diode Laser in the Treatment of Gingival Hyperpigmentation: Histological and Clinical Randomized Study Completed NCT03252418 Phase 4 Ascorbic Acid 500 MG
11 A Double-blinded, Placebo-controlled Study to Evaluate the Tolerability and Efficacy of Enstilar® (Calcipotriene and Betamethasone Dipropionate) Foam in the Treatment of Chronic Plaque Psoriasis in Patients With Skin of Color Completed NCT03506477 Phase 4 Enstilar® foam;Vehicle foam
12 Efficacy and Tolerability of Nicotinamide Plus Cream for Moderate Acne Vulgaris in Indonesia: A Multicenter Clinical Trial Completed NCT03626298 Phase 4 Adapalene;Nicotinamide, ABA and Zinc PCA;Placebos
13 Randomized, Double-Blind, Contralateral, Controlled Study to Assess the Efficacy of DerMend Moisturizing Bruise Formula in Improving the Appearance of Chronically Aged Mature Skin of the Forearms and Hands Completed NCT01910831 Phase 4 DerMend Moisturizing Bruise Formula;Non-active placebo control
14 Ketoconazole Foam 2% for the Treatment of Versicolor Completed NCT00830388 Phase 4 Ketoconazole 2% Foam
15 REVERSEII: Validation of the "Men and HERDOO2"- A Clinical Decision Rule to Identify Patients With "Unprovoked" Venous Thromboembolism Who Can Discontinue Anticoagulants After 6 Months of Treatment. Completed NCT00967304 Phase 4
16 Clinical Evaluation of Day and Night Skin Care Creams Supplemented With MediCell Technology (MCT)'s Composition of Defensins and Supportive Molecules Completed NCT02765763 Phase 4 2-Minute Reveal Masque;24/7 Barrier Repair Cream;8-in-1 BioSerum;Null Formula 2-Minute Reveal Masque;Null Formula 24/7 Barrier Repair Cream;Null Formula 8-in-1 BioSerum
17 An Open-label Study to Investigate the Efficacy and Tolerability of Aczone Gel, 7.5% in the Treatment of Acne Vulgaris in Men and Women With Skin of Color Recruiting NCT03681470 Phase 4 Aczone Gel
18 The Efficacy of Oral Tranexamic Acid and a 1927 nm Diode Laser in Patients With Melasma. A Prospective Randomized Split Face Study Recruiting NCT03686787 Phase 4 Tranexamic Acid
19 Treatment of Periorbicular Hyperchromia Comparing 10% Thioglycolic Acid Peeling Versus Pulsed Intense Light: a Randomized Trial Active, not recruiting NCT03238105 Phase 4 Thioglycolic Acid
20 Dose Reduction of the New Generation Biologicals (IL17 and IL23 Inhibitors) in Psoriasis: A Pragmatic, Multicentre, Randomized, Controlled, Non-inferiority Study - BeNeBio Study Not yet recruiting NCT04340076 Phase 4 Secukinumab;Ixekizumab;Brodalumab;Guselkumab;Risankizumab;Tildrakizumab
21 The Efficacy of Combined Peels in Treatment of Melasma Using Modified Jessner's Solution With 20%Trichloroacetic Acid Versus 70%Glycolic Acid With 20% Trichloroacetic Acid : A Split-face Study Not yet recruiting NCT03153852 Phase 4 Modified Jessner's solution;Glycolic acid;Trichloroacetic acid
22 Different Dermatological Approaches in Treatment of Melasma: A Split Face Randomized Clinical Trial Not yet recruiting NCT03923062 Phase 4
23 Treatment of Melasma With Stabilized Kligman Preparation Associated or Not With Pulsed Dye Laser; a Comparative Prospective Study Terminated NCT00863278 Phase 4 Kligman's Trio
24 Efficacy and Safety of Topical Bimatoprost Solution 0.03% in Stable Vitiligo:A Preliminary Study Withdrawn NCT01202513 Phase 4 Bimatoprost 0.03% topical ophthalmic solution
25 BI 655066/ABBV-066 (Risankizumab) Versus Adalimumab in a Randomized, Double Blind, Parallel Group Trial in Moderate to Severe Plaque Psoriasis to Assess Safety and Efficacy After 16 Weeks of Treatment and After Inadequate Adalimumab Treatment Response (IMMvent) Completed NCT02694523 Phase 3 risankizumab;placebo for risankizumab
26 BI 655066/ABBV-066 (Risankizumab) Versus Ustekinumab and Placebo Comparators in a Randomized Double Blind trIal for Maintenance Use in Moderate to Severe Plaque Type Psoriasis (UltIMMa-1) Completed NCT02684370 Phase 3 risankizumab;placebo for risankizumab;ustekinumab;placebo for ustekinumab
27 Efficacy and Tolerance of the Topical Application of Potassium Hydroxide (10% and 15%) in the Treatment of Molluscum Contagiosum Completed NCT01348386 Phase 2, Phase 3 Hydroxide Potassium;Placebo
28 Clinical Study for the Evaluation of the Depigmenting Activity of a Cosmetic Product on Spotted Hand Skin Completed NCT02204436 Phase 3
29 A Randomized Study of Topical Dilute Hypochlorite (Modified Dakin's Solution) Treatment for the Prevention of Radiation Dermatitis in Head and Neck Cancer Completed NCT02369835 Phase 3 Dakin's solution
30 S0000B: Prevention of Cataract and Age-Related Macular Degeneration With Vitamin E and Selenium - SELECT Eye Endpoints (SEE) Completed NCT00784225 Phase 3 selenium;vitamin E;vitamin E placebo;selenium placebo
31 Open Label Study to Evaluate the Efficacy and Safety of Adalimumab in Patients With Plaque Psoriasis Who Showed an Unsatisfactory Response to Etanercept Completed NCT00927069 Phase 3 Adalimumab every other week;Adalimumab Every Week
32 Comparison of the Cosmetic Outcome of Hypofractionated Versus Normofractionated Intensity Modulated Radiotherapy (IMRT) in Treatment of Breast Cancer: The KOSIMA Trial Completed NCT01403779 Phase 3
33 Efficacy and Safety of Xeomin for the Treatment of Notalgia Paresthetica Completed NCT01098019 Phase 3 Xeomin;Placebo / Xeomin
34 Topical 5% Tranexamic Acid as a Treatment for Postinflammatory Hyperpigmentation Due to Acne Vulgaris Recruiting NCT03361345 Phase 2, Phase 3 Tranexamic Acid;Vehicle
35 A Randomized Phase III Trial With Mepitel Film for the Prophylaxis of Radiation Dermatitis in Adjuvant Breast Radiation Treatment Recruiting NCT04166799 Phase 3
36 Evaluation of the Therapeutic Effect of Platelet Rich Plasma (PRP) in Periorbital Hyperpigmentation(POH) Not yet recruiting NCT03862118 Phase 3
37 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
38 Phase 2 Study of the The Efficacy and Safety of a Single 70% Glycolic Acid Peel With Vitamin C for the Treatment of Acne Scars Unknown status NCT02126657 Phase 2 70% glycolic acid
39 Phase 2 Study of the Efficacy and Safety of a Single 70% Glycolic Acid Peel With Vitamin C for the Treatment of Photoaging Unknown status NCT02126644 Phase 2 70% glycolic acid
40 EFFECTIVENESS OF MARY D'UOL REPAIR BALM FOR PREVENTING AND / OR REDUCING TOXICITY SKIN IN PATIENTS WITH CANCER AND TREATMENT WITH ANY Antineoplastic Agent. RANDOM CLINICAL TRIAL. Unknown status NCT02036957 Phase 1, Phase 2
41 Efficacy and Safety of Intralesional Triamcinolone Acetonide in Vitiligo: A Prospective, Double-Blind Randomized Controlled Trial Unknown status NCT01766609 Phase 2 Triamcinolone Acetonide
42 Topical Psoralen Ultraviolet Light A Versus Narrow Band Ultraviolet Light B Treatment for Recalcitrant Dermatoses of the Hand: A Prospective Randomized, Single-blinded Controlled Clinical Trial Unknown status NCT01792245 Phase 2
43 A Study of Prophylactic Oral Steroids for Fatigue and Malaise Due to Regorafenib Treatment for Unresectable Metastatic Colorectal Cancer: a Randomized, Placebo-controlled, Double-blind Phase 2 Clinical Study (KSCC1402/HGCSG1402) Unknown status NCT02288078 Phase 2 Dexamethasone;Regorafenib;Placebo;Proton pump inhibitor
44 A Multi-Center, Double-Blind, Randomized, Vehicle-Controlled, Parallel-Group Study Comparing AM001 Cream to Vehicle in the Treatment of Plaque Psoriasis Completed NCT01938599 Phase 2 AM001 Cream, 7.5%;Placebo of AM001 Cream
45 A Randomized, Double-Blind, Placebo-Controlled, Dose-Ranging, Phase 2b Study of Baricitinib in Patients With Moderate-to-Severe Plaque Psoriasis Completed NCT01490632 Phase 2 Placebo;Baricitinib
46 A Phase 2 Open Label Study of A-101 Topical Solution in Subjects With Dermatosis Papulosa Nigra Completed NCT03224598 Phase 2 A-101 Topical Solution 40%
47 A Phase 2a, Multi Site, Randomized, Double Blind, Placebo Controlled, Parallel Group Study Of The Pilot Efficacy, Safety, And Pharmacokinetics Of 2 Ointment Formulations Of CP-690,550 In Subjects With Mild To Moderate Chronic Plaque Psoriasis Completed NCT01246583 Phase 2 CP-690,550 Ointment 1;Vehicle 1;CP-690,550 Ointment 2;Vehicle 2
48 A Phase 2b, Multi-site, Randomized, Double-blind, Vehicle-controlled, Parallel-group Study Of The Efficacy, Safety, Local Tolerability And Pharmacokinetics Of 2 Dose Strengths And 2 Regimens Of Tofacitinib Ointment In Subjects With Chronic Plaque Psoriasis. Completed NCT01831466 Phase 2 tofacitinib ointment 20 mg/g;tofacitinib ointment 10 mg/g;placebo ointment (vehicle);tofacitinib ointment 20 mg/g;tofacitinib ointment 10 mg/g;placebo ointment (vehicle)
49 Efficacy and Side Effects of Q-Switched Ruby Laser Treatment of Solar Lentigines in Two Different Fitzpatrick Skin Types II and IV Completed NCT00386204 Phase 2
50 Effects of PRK 124 (0.125%) Lotion in Acne Rosacea Completed NCT00580723 Phase 1, Phase 2

Search NIH Clinical Center for Dowling-Degos Disease 1

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


hydroquinone

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:

40
Skin, Breast, Eye, Tongue, Bone, Pituitary, Lung

Publications for Dowling-Degos Disease 1

Articles related to Dowling-Degos Disease 1:

(show top 50) (show all 6498)
# Title Authors PMID Year
1
Loss-of-function mutations in the keratin 5 gene lead to Dowling-Degos disease. 56 6 61
16465624 2006
2
Systematic mutation screening of KRT5 supports the hypothesis that Galli-Galli disease is a variant of Dowling-Degos disease. 6 56
20222933 2010
3
Mutations in POFUT1, encoding protein O-fucosyltransferase 1, cause generalized Dowling-Degos disease. 61 56
23684010 2013
4
Whole-exome sequencing identifies ADAM10 mutations as a cause of reticulate acropigmentation of Kitamura, a clinical entity distinct from Dowling-Degos disease. 6
23666529 2013
5
The spectrum of reticulate pigment disorders of the skin revisited. 56
23018017 2012
6
Coexistent Dowling-Degos disease and reticulate acropigmentation of kitamura with progressive seborrheic keratosis. 56
21416772 2011
7
Enhanced cytoplasmic expression of desmocollin 3 in epidermal rete ridges of Dowling-Degos syndrome. 6
14674915 2003
8
Reticulate acropigmentation of Kitamura-Dowling Degos disease overlap: a case report. 56
12207773 2002
9
Overlap of reticulate acropigmentation of Kitamura, acropigmentation of Dohi and Dowling-Degos disease in four generations. 56
9621148 1998
10
Co-existence of leukoderma with features of Dowling-Degos disease: reticulate acropigmentation of Kitamura spectrum in five unrelated patients. 56
9529553 1997
11
The genetic basis of epidermolysis bullosa simplex with mottled pigmentation. 56
8799157 1996
12
[Dowling-Degos disease with exclusively genital manifestations]. 56
1628971 1992
13
Dowling-Degos disease and Kitamura's reticulate acropigmentation: support for the concept of a single disease. 56
1911300 1991
14
[Dowling-Degos disease--an autosomal dominant genetic dermatosis]. 6
3188604 1988
15
Is Dowling-Degos disease the same disease as Kitamura's reticulate acropigmentation? 56
6860566 1983
16
Dowling-Degos disease (reticulate pigmented anomaly of the flexures) is an autosomal dominant condition. 56
6838773 1983
17
Reticular pigmented anomaly of the flexures. 56
629578 1978
18
Acetylcholinesterase, butyrylcholinesterase, and tyrosinase inhibition studies and antioxidant activities of 33 Scutellaria L. taxa from Turkey. 54 61
20026160 2010
19
NEMO gene mutations in Chinese patients with incontinentia pigmenti. 61 54
20434027 2010
20
The involvement of alpha-melanocyte-stimulating hormone in the hyperpigmentation of human skin autografts. 61 54
20006446 2010
21
Melanoma hyperpigmentation is strongly associated with KIT alterations. 61 54
19652585 2009
22
Inhibitory effects of arbutin on melanin biosynthesis of alpha-melanocyte stimulating hormone-induced hyperpigmentation in cultured brownish guinea pig skin tissues. 61 54
19387580 2009
23
[Factors affecting melanogenesis and methods used for identification of pigmentation disorders]. 54 61
18942345 2008
24
Anemonin is a natural bioactive compound that can regulate tyrosinase-related proteins and mRNA in human melanocytes. 61 54
17766092 2008
25
Novel splice isoforms of STRADalpha differentially affect LKB1 activity, complex assembly and subcellular localization. 61 54
17921699 2007
26
GNAS transcripts in skeletal progenitors: evidence for random asymmetric allelic expression of Gs alpha. 54 61
17566083 2007
27
Preparative isolation and identification of tyrosinase inhibitors from the seeds of Garcinia kola by high-speed counter-current chromatography. 54 61
17367799 2007
28
[Effects of Malassezia isolates on cytokines production associated with melanogenesis by keratinocytes]. 54 61
17536267 2007
29
Persistent bilateral hyperpigmentation caused by local stem cell factor injection. 61 54
17374016 2007
30
Glucosamine: an ingredient with skin and other benefits. 61 54
17716251 2006
31
Human mast cells in the neurohormonal network: expression of POMC, detection of precursor proteases, and evidence for IgE-dependent secretion of alpha-MSH. 54 61
16675966 2006
32
Tyrosinase inhibition studies of cycloartane and cucurbitane glycosides and their structure-activity relationships. 54 61
16716596 2006
33
The dermal stem cell factor and c-kit are overexpressed in melasma. 61 54
16704639 2006
34
Inhibitory kinetics of paeonol on the activity of mushroom tyrosinase oxidizing L-dopa. 54 61
16927833 2006
35
Café-au-lait spots in neurofibromatosis type 1 and in healthy control individuals: hyperpigmentation of a different kind? 54 61
16479403 2006
36
Sporadic somatic mutation of c-kit gene in a family with gastrointestinal stromal tumors without cutaneous hyperpigmentation. 61 54
16586562 2006
37
Discovery of benzylidenebenzofuran-3(2H)-one (aurones) as inhibitors of tyrosinase derived from human melanocytes. 61 54
16392817 2006
38
Triazine-based tyrosinase inhibitors identified by chemical genetic screening. 54 61
16280010 2005
39
Inhibition of skin pigmentation by an extract of Lepidium apetalum and its possible implication in IL-6 mediated signaling. 61 54
16280009 2005
40
Biostimulation of dermal fibroblast by sublethal Q-switched Nd:YAG 532 nm laser: collagen remodeling and pigmentation. 61 54
16019220 2005
41
Pigmentation in basal cell carcinoma involves enhanced endothelin-1 expression. 61 54
15946241 2005
42
Pigmented eccrine poroma with enhanced endothelin-1 expression: implications for mechanism of hyperpigmentation. 54 61
15888178 2005
43
Novel c-KIT germline mutation in a family with gastrointestinal stromal tumors and cutaneous hyperpigmentation. 54 61
15742474 2005
44
Adrenocorticotropin hypersecretion and pituitary microadenoma following bilateral adrenalectomy in a patient with classic 21-hydroxylase deficiency. 61 54
15679075 2005
45
Epidermal hyperpigmentation in non-syndromic solitary cafe-au-lait macules may be associated with increased secretion of endothelin-1 by lesional keratinocytes. 54 61
16208783 2005
46
Chalcones as potent tyrosinase inhibitors: the effect of hydroxyl positions and numbers. 54 61
15231412 2004
47
The epidermal stem cell factor is over-expressed in lentigo senilis: implication for the mechanism of hyperpigmentation. 61 54
15140230 2004
48
Autocrine and paracrine regulation of melanocytes in human skin and in pigmentary disorders. 61 54
15016298 2004
49
Pleomorphic characteristics of a germ-line KIT mutation in a large kindred with gastrointestinal stromal tumors, hyperpigmentation, and dysphagia. 54 61
14977822 2004
50
A patient with extensive stem cell factor-induced hyperpigmentation. 61 54
12635896 2003

Variations for Dowling-Degos Disease 1

ClinVar genetic disease variations for Dowling-Degos Disease 1:

6 ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 KRT5 NM_000424.4(KRT5):c.980T>C (p.Met327Thr)SNV Pathogenic 14641 rs58072617 12:52911486-52911486 12:52517702-52517702
2 KRT5 NM_000424.4(KRT5):c.14C>A (p.Ser5Ter)SNV Pathogenic 14647 rs58751565 12:52914067-52914067 12:52520283-52520283
3 KRT5 NM_000424.4(KRT5):c.418dup (p.Ile140fs)duplication Pathogenic 66235 rs61348424 12:52913662-52913663 12:52519878-52519879

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
13.91 STK11 RBP1 POMC KITLG KIT IKBKG
2
Show member pathways
12.68 STK11 KITLG KIT IKBKG GNAS FGFR3
3
Show member pathways
12.57 STK11 KITLG KIT IKBKG GNAS FGFR3
4 12.49 KITLG KIT IKBKG FGFR3
5
Show member pathways
12.42 KITLG KIT IKBKG FGFR3
6
Show member pathways
12.41 KITLG KIT IKBKG GNAS FGFR3
7 12.22 MITF KITLG KIT IKBKG GNAS FGFR3
8
Show member pathways
12 TYRP1 TYR POMC MITF KITLG KIT
9
Show member pathways
11.92 MITF KITLG KIT
10 11.84 KITLG KIT FGFR3
11 11.45 STK11 POMC IKBKG
12 11.07 POMC MITF KITLG KIT
13
Show member pathways
11.02 POMC EDN1
14 10.87 IKBKG GNAS
15 10.66 KITLG KIT
16 10.1 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 9.4 TYRP1 TYR STK11 RBP1 POMC KRT5
2 melanosome membrane GO:0033162 9.16 TYRP1 TYR
3 transport vesicle GO:0030133 9.13 GNAS FGFR3 EDN1

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

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of protein kinase B signaling GO:0051897 9.67 KITLG KIT FGFR3
2 protein autophosphorylation GO:0046777 9.65 STK11 KIT FGFR3
3 skeletal system development GO:0001501 9.61 GNAS FGFR3 EDN1
4 endochondral ossification GO:0001958 9.51 GNAS FGFR3
5 tissue homeostasis GO:0001894 9.46 STK11 GNAS
6 embryonic hemopoiesis GO:0035162 9.4 KITLG KIT
7 melanin biosynthetic process GO:0042438 9.37 TYRP1 TYR
8 positive regulation of MAP kinase activity GO:0043406 9.33 KITLG KIT EDN1
9 anoikis GO:0043276 9.32 STK11 IKBKG
10 ectopic germ cell programmed cell death GO:0035234 9.26 KITLG KIT
11 melanocyte differentiation GO:0030318 9.13 TYRP1 MITF KIT
12 pigmentation GO:0043473 8.92 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 monophenol monooxygenase activity GO:0004503 8.62 TYRP1 TYR

Sources for Dowling-Degos Disease 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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