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 57 72 29 6
Reticular Pigment Anomaly of Flexures 57 72 6
Hyperpigmentation 44 70
Ddd1 57 72
Ddd 57 72
Skin Diseases, Papulosquamous 44
Dowling-Degos Disease 70

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
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® 57 179850
OMIM Phenotypic Series 57 PS179850
SNOMED-CT via HPO 68 263681008
UMLS 70 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 05-Apr-2021)

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 HIV Life Cycle. The drugs Clindamycin and Hydroquinone have been mentioned in the context of this disorder. Affiliated tissues include skin, breast and tongue, and related phenotypes are progressive reticulate hyperpigmentation and growth/size/body region

UniProtKB/Swiss-Prot : 72 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 677)
# Related Disease Score Top Affiliating Genes
1 piebald trait 30.7 TYRP1 TYR MITF KITLG KIT
2 ochronosis 30.4 TYRP1 TYR MITF
3 albinism 30.2 TYRP1 TYR MITF
4 vitiligo-associated multiple autoimmune disease susceptibility 1 30.0 TYRP1 TYR POMC MITF KITLG
5 mastocytosis 30.0 MITF KITLG KIT
6 oculocutaneous albinism 29.8 TYRP1 TYR MITF
7 reticulate acropigmentation of kitamura 29.8 KRT5 ADAM10
8 extracutaneous mastocytoma 29.8 KITLG KIT
9 dysgerminoma of ovary 29.7 KITLG KIT
10 skin disease 29.7 TYR MITF KRT5 KIT FGFR3
11 ocular albinism 29.6 TYRP1 TYR MITF
12 keratosis, seborrheic 29.6 TYR KRT5 FGFR3
13 skin benign neoplasm 29.5 TYR KRT5 FGFR3
14 pigmentation disease 29.5 TYR MITF KIT IKBKG FGFR3
15 neurofibroma 29.5 TYR MITF KITLG KIT
16 melanocytic nevus syndrome, congenital 29.4 TYR STK11 KITLG EDN1
17 melanoma 28.8 TYRP1 TYR STK11 MITF KIT GNAS
18 adenocarcinoma 28.8 STK11 KIT GNAS FGFR3
19 microphthalmia 28.5 TYRP1 TYR POMC MITF KIT IKBKG
20 skin carcinoma 28.4 TYRP1 TYR STK11 POMC MITF KRT5
21 hyperpigmentation with or without hypopigmentation, familial progressive 11.6
22 nevoid hypermelanosis, linear and whorled 11.5
23 familial progressive hyperpigmentation 11.5
24 histiocytosis-lymphadenopathy plus syndrome 11.4
25 dense deposit disease 11.4
26 hyperpigmentation, familial progressive, 1 11.4
27 hyperpigmentation of the skin 11.2
28 epidermolysis bullosa simplex with mottled pigmentation 11.2
29 hyperpigmentation of eyelids 11.2
30 dermatopathia pigmentosa reticularis 11.2
31 dowling-degos disease 2 11.1
32 hyperkeratosis-hyperpigmentation syndrome 11.1
33 c3 glomerulopathy 11.1
34 amyloidosis, primary localized cutaneous, 3 11.1
35 membranoproliferative glomerulonephritis 11.1
36 tang hsi ryu syndrome 11.0
37 familial glucocorticoid deficiency 11.0
38 incontinentia pigmenti 11.0
39 extrasystoles, multiform ventricular, with short stature, hyperpigmentation and microcephaly 11.0
40 ectodermal dysplasia/short stature syndrome 11.0
41 naegeli-franceschetti-jadassohn syndrome 11.0
42 clouston syndrome 11.0
43 vitreoretinochoroidopathy 11.0
44 dowling-degos disease 11.0
45 mastocytosis, cutaneous 11.0
46 lichen planus pigmentosus 10.9
47 extrasystoles short stature hyperpigmentation microcephaly 10.9
48 polyposis, skin pigmentation, alopecia, and fingernail changes 10.9
49 acne inversa, familial, 2, with or without dowling-degos disease 10.9
50 nevus, epidermal 10.9

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®:

57 (Updated 05-Apr-2021)
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 05-Apr-2021)

MGI Mouse Phenotypes related to Dowling-Degos Disease 1:

46 (show all 24)
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.42 ADAM10 EDN1 FGFR3 GNAS IKBKG KIT
2 behavior/neurological MP:0005386 10.36 FGFR3 GNAS IKBKG KIT KRT5 MITF
3 homeostasis/metabolism MP:0005376 10.36 ADAM10 EDN1 FGFR3 GNAS IKBKG KIT
4 cellular MP:0005384 10.35 ADAM10 FGFR3 GNAS IKBKG KIT KITLG
5 craniofacial MP:0005382 10.34 ADAM10 EDN1 FGFR3 GNAS KIT KITLG
6 endocrine/exocrine gland MP:0005379 10.32 ADAM10 EDN1 GNAS IKBKG KIT KITLG
7 immune system MP:0005387 10.31 ADAM10 FGFR3 GNAS IKBKG KIT KITLG
8 hematopoietic system MP:0005397 10.3 ADAM10 FGFR3 GNAS IKBKG KIT KITLG
9 integument MP:0010771 10.3 ADAM10 FGFR3 GNAS IKBKG KIT KITLG
10 mortality/aging MP:0010768 10.29 ADAM10 EDN1 FGFR3 GNAS IKBKG KIT
11 cardiovascular system MP:0005385 10.26 ADAM10 EDN1 GNAS IKBKG KIT KITLG
12 hearing/vestibular/ear MP:0005377 10.22 EDN1 FGFR3 GNAS KIT KITLG MITF
13 nervous system MP:0003631 10.21 ADAM10 EDN1 FGFR3 GNAS KIT KITLG
14 digestive/alimentary MP:0005381 10.19 ADAM10 EDN1 FGFR3 IKBKG KIT KITLG
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 10.02 ADAM10 EDN1 FGFR3 GNAS IKBKG KIT
19 pigmentation MP:0001186 9.97 ADAM10 IKBKG KIT KITLG MITF POMC
20 no phenotypic analysis MP:0003012 9.95 FGFR3 GNAS KIT MITF POMC STK11
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 9.61 ADAM10 EDN1 FGFR3 GNAS KIT KITLG
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 93)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Clindamycin Approved, Vet_approved Phase 4 18323-44-9 29029
2
Hydroquinone Approved, Investigational Phase 4 123-31-9 785
3
Nicotinamide Approved, Investigational Phase 4 98-92-0 936
4
Desonide Approved, Investigational Phase 4 638-94-8 5311066
5
Azelaic acid Approved Phase 4 123-99-9 2266
6
Tretinoin Approved, Investigational, Nutraceutical Phase 4 302-79-4 444795 5538
7
Folic acid Approved, Nutraceutical, Vet_approved Phase 4 59-30-3 6037
8
Niacin Approved, Investigational, Nutraceutical Phase 4 59-67-6 938
9
Vitamin C Approved, Nutraceutical Phase 4 50-81-7 5785 54670067
10 Clindamycin palmitate Phase 4
11 Clindamycin, tretinoin drug combination Phase 4
12 Clindamycin phosphate Phase 4
13 Sunscreening Agents Phase 4
14 Keratolytic Agents Phase 4
15 Dermatologic Agents Phase 4
16 Radiation-Protective Agents Phase 4
17 Antioxidants Phase 4
18 Anti-Inflammatory Agents Phase 4
19 Vitamin B9 Phase 4
20 Vasodilator Agents Phase 4
21 Antimetabolites Phase 4
22 Vitamins Phase 4
23 Vitamin B Complex Phase 4
24 Lipid Regulating Agents Phase 4
25 Folate Phase 4
26 Vitamin B3 Phase 4
27 Nicotinic Acids Phase 4
28 Hypolipidemic Agents Phase 4
29 Fibrin fragment D Phase 4
30
Tranexamic Acid Approved Phase 2, Phase 3 1197-18-8 5526
31 Coagulants Phase 2, Phase 3
32 Hemostatics Phase 2, Phase 3
33 Antifibrinolytic Agents Phase 2, Phase 3
34
Midazolam Approved, Illicit Phase 2 59467-70-8 4192
35
Dexamethasone Approved, Investigational, Vet_approved Phase 2 50-02-2 5743
36
Dexlansoprazole Approved, Investigational Phase 2 138530-94-6, 103577-45-3 9578005
37
Dexamethasone acetate Approved, Investigational, Vet_approved Phase 2 1177-87-3
38
Omeprazole Approved, Investigational, Vet_approved Phase 2 73590-58-6 4594
39
Lansoprazole Approved, Investigational Phase 2 103577-45-3 3883
40
Iron Approved Phase 1, Phase 2 7439-89-6 23925 29936
41
Pentetic acid Approved Phase 1, Phase 2 67-43-6
42
Edetic Acid Approved, Vet_approved Phase 1, Phase 2 62-33-9, 60-00-4 6049
43
Zinc Approved, Investigational Phase 1, Phase 2 7440-66-6 32051
44
Aspartic acid Approved, Nutraceutical Phase 2 56-84-8 5960
45 Gastrointestinal Agents Phase 2
46 Antiemetics Phase 2
47 Antineoplastic Agents, Hormonal Phase 2
48 Proton Pump Inhibitors Phase 2
49
Bilirubin Phase 2 635-65-4 5280352
50 N-Methylaspartate Phase 2

Interventional clinical trials:

(show top 50) (show all 52)
# 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 Efficacy of Oral Tranexamic Acid and a 1927 nm Diode Laser in Patients With Melasma. A Prospective Randomized Split Face Study Unknown status NCT03686787 Phase 4 Tranexamic Acid
3 A Clinical Usage Study to Evaluate the Safety and Efficacy of an Herbal-Based De-Pigmenting System Completed NCT02138539 Phase 4 Hydroquinone
4 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
5 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
6 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
7 Efficacy and Safety of Finacea in the Treatment of Post-Inflammatory Hyperpigmentation and Acne Vulgaris Completed NCT01038869 Phase 4 Azelaic acid
8 Ascorbic Acid Versus Diode Laser in the Treatment of Gingival Hyperpigmentation: Histological and Clinical Randomized Study Completed NCT03252418 Phase 4 Ascorbic Acid 500 MG
9 The Use of Onexton in Moderate Acne Vulgaris for Patients With Skin of Color Completed NCT03402893 Phase 4 ONEXTON Topical Gel
10 Evaluation of the Therapeutic Effect of Platelet Rich Plasma (PRP) in Periorbital Hyperpigmentation(POH) Unknown status NCT03862118 Phase 3
11 Clinical Study for the Evaluation of the Depigmenting Activity of a Cosmetic Product on Spotted Hand Skin Completed NCT02204436 Phase 3
12 Topical 5% Tranexamic Acid as a Treatment for Postinflammatory Hyperpigmentation Due to Acne Vulgaris Recruiting NCT03361345 Phase 2, Phase 3 Tranexamic Acid;Vehicle
13 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
14 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
15 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
16 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
17 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
18 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%
19 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
20 Climatotherapy at Red Sea - Hurghada Versus Topical Combination of Corticosteroids and Salicylic Acid in Treatment of Psoriasis Unknown status NCT03156062 Topical corticosteroids with salicylic acid
21 Tranexamic Acid Versus Fractional CO2 Laser in Post-inflammatory Hyperpigmentation in Acne Patients Unknown status NCT03765021 Tranexamic Acid
22 An In Vivo Model for Postinflammatory Hyperpigmentation: Part II Unknown status NCT02905903 Tricholoacetic Acid (TCA)
23 Can Intravenous Vitamin C Improve Skin Hyperpigmentation in Long-Term Hemodialysis Patients? Unknown status NCT00172302 vitamin C, intravenous injection
24 Clinical, Histological and Biochemical Characterization of Hyperpigmented Lesion. Unknown status NCT01136629
25 Safety and Efficacy of a Triple Combination Cream as Adjuvant Treatment of Solar Lentigines With Cryotherapy. Completed NCT01778179 Tri-luma
26 A Single-Center Prospective, Open-Label Study of the Excel V 532 nm KTP Laser for the Treatment of Poikiloderma of Civatte Completed NCT01491620
27 Randomized, Double-Blind Evaluation of Maple Leaf Extract (Maplifa) for Photoaging Completed NCT04586816
28 Prospective Post Marketing Surveillance to Evaluate the Safety and Efficacy of Etanercept Under Usual Care Settings in Patients With Psoriatic Arthritis (PsA) Treated by Rheumatologists Completed NCT00293722 Etanercept
29 Prospective Post Marketing Surveillance To Evaluate The Safety And Efficacy Of Etanercept Under Usual Care Settings In Patients With Psoriatic Arthritis (Psa) Treated By Dermatologists Completed NCT00293709 etanercept
30 A Post-market, Randomized Study to Assess the Efficacy of Skin Rejuvenation Therapy in Combination With Neurotoxin and Full Facial Filler Treatments Completed NCT02551562
31 Research on Current Prototypes of the Digiclamp. Short Term and Long Term Outcomes of Treating Adults With Achrocordons (Skin Tags) Completed NCT03259295
32 Topical Tranexamic Acid Versus Topical Vitamin C With Microneedling in Periorbital Hyperpigmentation; Comparative Study Completed NCT04697992 vitamin c 20%;Tranexamic acid 5mg/ml
33 Efficacy and Tolerability of an Isobutylamido-thiazolyl-resorcinol Cream 0.2% for Facial Hyperpigmentation, A Randomized Double-blind and Vehicle-Controlled Study Completed NCT03926845
34 Efficacy of Platelet-Rich Plasma (PRP) in the Treatment of Periorbital Hyperpigmentation Completed NCT03114514
35 Gingival Depigmentation With Er,Cr:YSGG and Diode Laser: Randomized Clinical Trial to Evaluate the Repigmentation and Patient Perceptions Completed NCT04680806
36 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
37 Identification of Gene Biomarkers in Aging Skin; a Blinded, Prospective, Single-center, Clinical Study Completed NCT00884936
38 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
39 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
40 PHNA, Efficacy of Tretinoin Cream on Post-phototherapy Hyperpigmentation Completed NCT03933774 Tretinoin 0.05% cream;Placebo cream
41 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
42 Efficacy and Safety of Biocellulose Sheet From Coconut Juice Containing Anti-hyperpigmentation Agent ("Biocellulose Mask", "Farhorm®") in Patients Receiving Laser Treatment Completed NCT01806831
43 Efficacy and Safety of Combined Microneedling With Topical Glutathione Versus Carboxy Therapy in Treatment of Patients With Periorbital Hyperpigmentation Completed NCT04389788
44 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
45 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
46 Efficacy and Tolerance of D-pigment Versus Moisturizer in Hands' Lentigo Lesions With or Without Laser Therapy Completed NCT03457246
47 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
48 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
49 Characterization of Dyschromic Hypertrophic Scar: An Observational Clinical Trial Recruiting NCT04619589
50 Clinical Trial Study for the Use of Epistamp Needling Device to Treat Postinflammatory Hyperpigmentation (PIH) Not yet recruiting NCT04740255

Search NIH Clinical Center for Dowling-Degos Disease 1

Inferred drug relations via UMLS 70 / NDF-RT 51 :


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, Tongue, Eye, Bone, Pituitary, Lung

Publications for Dowling-Degos Disease 1

Articles related to Dowling-Degos Disease 1:

(show top 50) (show all 6888)
# Title Authors PMID Year
1
Loss-of-function mutations in the keratin 5 gene lead to Dowling-Degos disease. 57 6 61
16465624 2006
2
Systematic mutation screening of KRT5 supports the hypothesis that Galli-Galli disease is a variant of Dowling-Degos disease. 57 6
20222933 2010
3
Mutations in POFUT1, encoding protein O-fucosyltransferase 1, cause generalized Dowling-Degos disease. 61 57
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. 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. 6
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]. 6
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
The involvement of alpha-melanocyte-stimulating hormone in the hyperpigmentation of human skin autografts. 54 61
20006446 2010
19
NEMO gene mutations in Chinese patients with incontinentia pigmenti. 54 61
20434027 2010
20
Acetylcholinesterase, butyrylcholinesterase, and tyrosinase inhibition studies and antioxidant activities of 33 Scutellaria L. taxa from Turkey. 54 61
20026160 2010
21
Melanoma hyperpigmentation is strongly associated with KIT alterations. 54 61
19652585 2009
22
Inhibitory effects of arbutin on melanin biosynthesis of alpha-melanocyte stimulating hormone-induced hyperpigmentation in cultured brownish guinea pig skin tissues. 54 61
19387580 2009
23
[Factors affecting melanogenesis and methods used for identification of pigmentation disorders]. 61 54
18942345 2008
24
Anemonin is a natural bioactive compound that can regulate tyrosinase-related proteins and mRNA in human melanocytes. 54 61
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
Persistent bilateral hyperpigmentation caused by local stem cell factor injection. 61 54
17374016 2007
29
[Effects of Malassezia isolates on cytokines production associated with melanogenesis by keratinocytes]. 61 54
17536267 2007
30
Glucosamine: an ingredient with skin and other benefits. 54 61
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. 61 54
16927833 2006
35
Café-au-lait spots in neurofibromatosis type 1 and in healthy control individuals: hyperpigmentation of a different kind? 61 54
16479403 2006
36
Sporadic somatic mutation of c-kit gene in a family with gastrointestinal stromal tumors without cutaneous hyperpigmentation. 54 61
16586562 2006
37
Discovery of benzylidenebenzofuran-3(2H)-one (aurones) as inhibitors of tyrosinase derived from human melanocytes. 61 54
16392817 2006
38
Inhibition of skin pigmentation by an extract of Lepidium apetalum and its possible implication in IL-6 mediated signaling. 61 54
16280009 2005
39
Triazine-based tyrosinase inhibitors identified by chemical genetic screening. 54 61
16280010 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. 61 54
15888178 2005
43
Novel c-KIT germline mutation in a family with gastrointestinal stromal tumors and cutaneous hyperpigmentation. 54 61
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. 61 54
16208783 2005
45
Adrenocorticotropin hypersecretion and pituitary microadenoma following bilateral adrenalectomy in a patient with classic 21-hydroxylase deficiency. 61 54
15679075 2005
46
The epidermal stem cell factor is over-expressed in lentigo senilis: implication for the mechanism of hyperpigmentation. 54 61
15140230 2004
47
Chalcones as potent tyrosinase inhibitors: the effect of hydroxyl positions and numbers. 61 54
15231412 2004
48
Autocrine and paracrine regulation of melanocytes in human skin and in pigmentary disorders. 54 61
15016298 2004
49
Pleomorphic characteristics of a germ-line KIT mutation in a large kindred with gastrointestinal stromal tumors, hyperpigmentation, and dysphagia. 61 54
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 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) Duplication Pathogenic 66235 rs61348424 GRCh37: 12:52913662-52913663
GRCh38: 12:52519878-52519879
3 KRT5 NM_000424.4(KRT5):c.980T>C (p.Met327Thr) SNV Pathogenic 14641 rs58072617 GRCh37: 12:52911486-52911486
GRCh38: 12:52517702-52517702
4 ADAM10 NM_001110.4(ADAM10):c.1571G>A (p.Cys524Tyr) SNV Pathogenic 88843 rs483352916 GRCh37: 15:58904131-58904131
GRCh38: 15:58611932-58611932
5 ADAM10 NM_001110.4(ADAM10):c.1264del (p.Thr422fs) Deletion Pathogenic 88842 rs483352915 GRCh37: 15:58919995-58919995
GRCh38: 15:58627796-58627796
6 ADAM10 NM_001110.4(ADAM10):c.429T>A (p.Tyr143Ter) SNV Pathogenic 88841 rs483352914 GRCh37: 15:58971378-58971378
GRCh38: 15:58679179-58679179
7 ADAM10 NM_001110.4(ADAM10):c.1511G>A (p.Ser504Asn) SNV Pathogenic 88840 rs483352913 GRCh37: 15:58913670-58913670
GRCh38: 15:58621471-58621471
8 ADAM10 NM_001110.4(ADAM10):c.415C>T (p.Pro139Ser) SNV Pathogenic 88839 rs483352912 GRCh37: 15:58971392-58971392
GRCh38: 15:58679193-58679193
9 KRT5 NM_000424.4(KRT5):c.224C>A (p.Ser75Tyr) SNV Uncertain significance 982659 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 16)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.85 STK11 RBP1 POMC KITLG KIT IKBKG
2
Show member pathways
13.46 RBP1 POMC KITLG KIT IKBKG FGFR3
3
Show member pathways
12.68 STK11 KITLG KIT IKBKG GNAS FGFR3
4
Show member pathways
12.57 STK11 KITLG KIT IKBKG GNAS FGFR3
5 12.53 KITLG KIT IKBKG FGFR3
6
Show member pathways
12.45 KITLG KIT IKBKG FGFR3
7
Show member pathways
12.41 KITLG KIT IKBKG GNAS FGFR3
8 12.22 MITF KITLG KIT IKBKG GNAS FGFR3
9
Show member pathways
12 TYRP1 TYR POMC MITF KITLG KIT
10
Show member pathways
11.92 MITF KITLG KIT
11 11.84 KITLG KIT FGFR3
12 11.45 STK11 POMC IKBKG
13 11.07 POMC MITF KITLG KIT
14 10.89 IKBKG GNAS
15 10.68 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 9.47 TYRP1 TYR STK11 RBP1 POMC MITF
2 Golgi-associated vesicle GO:0005798 9.26 TYR ADAM10
3 melanosome membrane GO:0033162 9.16 TYRP1 TYR
4 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 11)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of cell proliferation GO:0008284 9.77 KITLG KIT FGFR3 EDN1 ADAM10
2 skeletal system development GO:0001501 9.65 GNAS FGFR3 EDN1
3 cell-cell signaling GO:0007267 9.62 POMC FGFR3 EDN1 ADAM10
4 tissue homeostasis GO:0001894 9.49 STK11 GNAS
5 embryonic hemopoiesis GO:0035162 9.46 KITLG KIT
6 melanin biosynthetic process GO:0042438 9.43 TYRP1 TYR
7 anoikis GO:0043276 9.4 STK11 IKBKG
8 positive regulation of MAP kinase activity GO:0043406 9.33 KITLG KIT EDN1
9 ectopic germ cell programmed cell death GO:0035234 9.26 KITLG KIT
10 melanocyte differentiation GO:0030318 9.13 TYRP1 MITF KIT
11 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 protein homodimerization activity GO:0042803 9.35 TYRP1 TYR KIT IKBKG ADAM10
2 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
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
Content
Loading form....