Dowling-Degos Disease 1 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

DDD1 MCID: DWL002 MIFTS: 51	Dowling-Degos Disease 1 (DDD1) Categories: Genetic diseases, Metabolic diseases, Rare diseases, Skin diseases	Data Licensing For inquiries, contact: [email protected]
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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:

MalaCards categories:
Global: Genetic diseases Rare diseases Metabolic diseases
Anatomical: Skin diseases

See all MalaCards categories (disease lists)

External Ids:

OMIM® ⁵⁷ 179850

OMIM Phenotypic Series ⁵⁷ PS179850

MeSH ⁴³ D017444 D017495

MedGen ⁴⁰ C0406811 C4552092

UMLS ⁷¹ C0162834 C3714534

Sources

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.

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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:

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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

Sources

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

Clindamycin

Approved, Vet_approved

Phase 4

18323-44-9, 24729-96-2

29029

Azelaic acid

Approved

Phase 4

123-99-9

2266

Nicotinamide

Approved, Investigational

Phase 4

98-92-0

936

Desonide

Approved, Investigational

Phase 4

638-94-8

5311066

Trifarotene

Approved, Investigational

Phase 4

895542-09-3

11518241

Ascorbic acid

Approved, Nutraceutical

Phase 4

50-81-7

54676860 54670067 5785

Isotretinoin

Approved, Investigational, Nutraceutical

Phase 4

302-79-4, 4759-48-2

5538 444795 5282379

Folic acid

Approved, Nutraceutical, Vet_approved

Phase 4

59-30-3

6037

Niacin

Approved, Investigational, Nutraceutical

Phase 4

59-67-6

938

Anti-Bacterial Agents

Phase 4

Anti-Infective Agents

Phase 4

Clindamycin, tretinoin drug combination

Phase 4

Clindamycin phosphate

Phase 4

32603

Clindamycin palmitate

Phase 4

Vitamins

Phase 4

Keratolytic Agents

Phase 4

Anti-Inflammatory Agents

Phase 4

Folate

Phase 4

Vitamin B9

Phase 4

Vitamin B3

Phase 4

Nicotinic Acids

Phase 4

Antimetabolites

Phase 4

Vasodilator Agents

Phase 4

Vitamin B Complex

Phase 4

Hypolipidemic Agents

Phase 4

Lipid Regulating Agents

Phase 4

Dermatologic Agents

Phase 4

Tranexamic acid

Approved

Phase 2, Phase 3

1197-18-8

5526

Hemostatics

Phase 2, Phase 3

Antifibrinolytic Agents

Phase 2, Phase 3

Coagulants

Phase 2, Phase 3

Hydroquinone

Approved, Investigational

Phase 2

123-31-9

785

Edetate calcium disodium anhydrous

Approved, Vet_approved

Phase 1, Phase 2

62-33-9, 60-00-4

6049

Iron

Approved

Phase 1, Phase 2

7439-89-6

29936

Zinc cation

Approved, Experimental, Investigational

Phase 1, Phase 2

7440-66-6, 23713-49-7

32051

Pentetic acid

Approved

Phase 1, Phase 2

67-43-6

Ruboxistaurin

Investigational

Phase 2

169939-94-0

9892366 153999

Sunscreening Agents

Phase 2

Radiation-Protective Agents

Phase 2

Antioxidants

Phase 2

Protective Agents

Phase 1, Phase 2

Trace Elements

Phase 1, Phase 2

Micronutrients

Phase 1, Phase 2

Pharmaceutical Solutions

Phase 1, Phase 2

Hormones

Phase 1, Phase 2

Iron Chelating Agents

Phase 1, Phase 2

Antidotes

Phase 1, Phase 2

Calcium, Dietary

Phase 1, Phase 2

Anticoagulants

Phase 1, Phase 2

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

Sources

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

Sources

Anatomical Context for Dowling-Degos Disease 1

Organs/tissues related to Dowling-Degos Disease 1:

MalaCards : Skin, Breast, Eye, Pituitary

ODiseA: Skin

Sources

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	Hanneken S...Betz RC	20222933	2010
2	Loss-of-function mutations in the keratin 5 gene lead to Dowling-Degos disease. ⁵⁷ ⁵	Betz RC...Kruse R	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	Kono M...Akiyama M	23666529	2013
4	Mutations in POFUT1, encoding protein O-fucosyltransferase 1, cause generalized Dowling-Degos disease. ⁵⁷	Li M...Yao Z	23684010	2013
5	The spectrum of reticulate pigment disorders of the skin revisited. ⁵⁷	Muller CS...Vogt T	23018017	2012
6	Coexistent Dowling-Degos disease and reticulate acropigmentation of kitamura with progressive seborrheic keratosis. ⁵⁷	Shen Z...Zhong B	21416772	2011
7	Enhanced cytoplasmic expression of desmocollin 3 in epidermal rete ridges of Dowling-Degos syndrome. ⁵	Braun-Falco M...Ring J	14674915	2003
8	Reticulate acropigmentation of Kitamura-Dowling Degos disease overlap: a case report. ⁵⁷	Al Hawsawi K...Al Aboud D	12207773	2002
9	Overlap of reticulate acropigmentation of Kitamura, acropigmentation of Dohi and Dowling-Degos disease in four generations. ⁵⁷	Thami GP...Singh IP	9621148	1998
10	Co-existence of leukoderma with features of Dowling-Degos disease: reticulate acropigmentation of Kitamura spectrum in five unrelated patients. ⁵⁷	Lestringant GG...Galadari IH	9529553	1997
11	The genetic basis of epidermolysis bullosa simplex with mottled pigmentation. ⁵⁷	Uttam J...Fuchs E	8799157	1996
12	[Dowling-Degos disease with exclusively genital manifestations]. ⁵⁷	Milde P...Plewig G	1628971	1992
13	Dowling-Degos disease and Kitamura's reticulate acropigmentation: support for the concept of a single disease. ⁵⁷	Cox NH...Long E	1911300	1991
14	[Dowling-Degos disease--an autosomal dominant genetic dermatosis]. ⁵	Biltz H...Kiessling M	3188604	1988
15	Is Dowling-Degos disease the same disease as Kitamura's reticulate acropigmentation? ⁵⁷	Crovato F...Rebora A	6860566	1983
16	Dowling-Degos disease (reticulate pigmented anomaly of the flexures) is an autosomal dominant condition. ⁵⁷	Crovato F...Rebora A	6838773	1983
17	Reticular pigmented anomaly of the flexures. ⁵⁷	Howell JB...Freeman RG	629578	1978
18	NEMO gene mutations in Chinese patients with incontinentia pigmenti. ⁵³	Hsiao PF...Lin YC	20434027	2010
19	The involvement of alpha-melanocyte-stimulating hormone in the hyperpigmentation of human skin autografts. ⁵³	Xue CY...Xing X	20006446	2010
20	Acetylcholinesterase, butyrylcholinesterase, and tyrosinase inhibition studies and antioxidant activities of 33 Scutellaria L. taxa from Turkey. ⁵³	Senol FS...Sener B	20026160	2010
21	Melanoma hyperpigmentation is strongly associated with KIT alterations. ⁵³	Wu JM...Montgomery EA	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	Lim YJ...Kim SY	19387580	2009
23	[Factors affecting melanogenesis and methods used for identification of pigmentation disorders]. ⁵³	Galus R...Wlodarski K	18942345	2008
24	Anemonin is a natural bioactive compound that can regulate tyrosinase-related proteins and mRNA in human melanocytes. ⁵³	Huang YH...Lee MH	17766092	2008
25	Novel splice isoforms of STRADalpha differentially affect LKB1 activity, complex assembly and subcellular localization. ⁵³	Marignani PA...Resta N	17921699	2007
26	GNAS transcripts in skeletal progenitors: evidence for random asymmetric allelic expression of Gs alpha. ⁵³	Michienzi S...Riminucci M	17566083	2007
27	Preparative isolation and identification of tyrosinase inhibitors from the seeds of Garcinia kola by high-speed counter-current chromatography. ⁵³	Okunji C...Raskin I	17367799	2007
28	Persistent bilateral hyperpigmentation caused by local stem cell factor injection. ⁵³	Yamamoto T...Yokozeki H	17374016	2007
29	[Effects of Malassezia isolates on cytokines production associated with melanogenesis by keratinocytes]. ⁵³	Cui F...Liu WD	17536267	2007
30	Glucosamine: an ingredient with skin and other benefits. ⁵³	Bissett DL	17716251	2006
31	Tyrosinase inhibition studies of cycloartane and cucurbitane glycosides and their structure-activity relationships. ⁵³	Khan MT...Isaev MI	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	Artuc M...Henz BM	16675966	2006
33	Inhibitory kinetics of paeonol on the activity of mushroom tyrosinase oxidizing L-dopa. ⁵³	Gong SZ...Yang ZR	16927833	2006
34	The dermal stem cell factor and c-kit are overexpressed in melasma. ⁵³	Kang HY...Kang WH	16704639	2006
35	Café-au-lait spots in neurofibromatosis type 1 and in healthy control individuals: hyperpigmentation of a different kind? ⁵³	De Schepper S...Lambert J	16479403	2006
36	Sporadic somatic mutation of c-kit gene in a family with gastrointestinal stromal tumors without cutaneous hyperpigmentation. ⁵³	Yeh CN...Jan YY	16586562	2006
37	Discovery of benzylidenebenzofuran-3(2H)-one (aurones) as inhibitors of tyrosinase derived from human melanocytes. ⁵³	Okombi S...Boumendjel A	16392817	2006
38	Triazine-based tyrosinase inhibitors identified by chemical genetic screening. ⁵³	Ni-Komatsu L...Orlow SJ	16280010	2005
39	Inhibition of skin pigmentation by an extract of Lepidium apetalum and its possible implication in IL-6 mediated signaling. ⁵³	Choi H...Hwang JS	16280009	2005
40	Biostimulation of dermal fibroblast by sublethal Q-switched Nd:YAG 532 nm laser: collagen remodeling and pigmentation. ⁵³	Poon VK...Burd A	16019220	2005
41	Pigmentation in basal cell carcinoma involves enhanced endothelin-1 expression. ⁵³	Lan CC...Yu HS	15946241	2005
42	Pigmented eccrine poroma with enhanced endothelin-1 expression: implications for mechanism of hyperpigmentation. ⁵³	Lan CC...Chen GS	15888178	2005
43	Novel c-KIT germline mutation in a family with gastrointestinal stromal tumors and cutaneous hyperpigmentation. ⁵³	Carballo M...Martinez-Gimeno M	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	Okazaki M...Harii K	16208783	2005
45	Adrenocorticotropin hypersecretion and pituitary microadenoma following bilateral adrenalectomy in a patient with classic 21-hydroxylase deficiency. ⁵³	Charmandari E...Merke DP	15679075	2005
46	The epidermal stem cell factor is over-expressed in lentigo senilis: implication for the mechanism of hyperpigmentation. ⁵³	Hattori H...Imokawa G	15140230	2004
47	Chalcones as potent tyrosinase inhibitors: the effect of hydroxyl positions and numbers. ⁵³	Nerya O...Vaya J	15231412	2004
48	Autocrine and paracrine regulation of melanocytes in human skin and in pigmentary disorders. ⁵³	Imokawa G	15016298	2004
49	Pleomorphic characteristics of a germ-line KIT mutation in a large kindred with gastrointestinal stromal tumors, hyperpigmentation, and dysphagia. ⁵³	Robson ME...Offit K	14977822	2004
50	A patient with extensive stem cell factor-induced hyperpigmentation. ⁵³	Bellet JS...Grichnik JM	12635896	2003

Sources

Genes for Dowling-Degos Disease 1

Genes related to Dowling-Degos Disease 1 (2 elite genes):

(show all 14)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	KRT5	Keratin 5	Protein Coding	1008.03	Molecular basis known ⁵⁷ Pathogenic ⁵ Genetic Tests ²⁸ GeneCards inferred via : Disorders (show sections)	3188604 14674915 16465624 (more) 20222933
2	ADAM10	ADAM Metallopeptidase Domain 10	Protein Coding	400	Pathogenic ⁵	23666529
3	TYR	Tyrosinase	Protein Coding	9.96	Novoseek inferred ⁵³	16392817 20026160 12372097 (more) 7662120 16927833 16280009 17716251 17766092 7963648 16716596 9475178 2114832 11570225 12622939 18942345 15231412 16280010 17367799
4	TYRP1	Tyrosinase Related Protein 1	Protein Coding	8.87	Novoseek inferred ⁵³	11979069
5	POMC	Proopiomelanocortin	Protein Coding	6.99	Novoseek inferred ⁵³	20006446 16675966 1323248 (more) 15679075 9040976 9745786 19387580
6	KITLG	KIT Ligand	Protein Coding	6.6	Novoseek inferred ⁵³	15140230 12635896 16704639 (more) 9584135 15016298 17374016 16479403 16019220 7545704 11167715 11564169
7	IKBKG	Inhibitor Of Nuclear Factor Kappa B Kinase Regulatory Subunit Gamma	Protein Coding	6.42	Novoseek inferred ⁵³	20434027
8	MITF	Melanocyte Inducing Transcription Factor	Protein Coding	6.11	Novoseek inferred ⁵³	16280009
9	KIT	KIT Proto-Oncogene, Receptor Tyrosine Kinase	Protein Coding	5.71	Novoseek inferred ⁵³	19652585 15742474 11208730 (more) 14977822 15016298 16586562
10	EDN1	Endothelin 1	Protein Coding	5.11	Novoseek inferred ⁵³	11168657 8977712 9263329 (more) 16208783 15016298 17536267 11899142 15140230 15946241 15888178
11	STK11	Serine/Threonine Kinase 11	Protein Coding	4.03	Novoseek inferred ⁵³	10874301 17921699
12	RBP1	Retinol Binding Protein 1	Protein Coding	3.67	Novoseek inferred ⁵³	9858140
13	GNAS	GNAS Complex Locus	Protein Coding	3.4	Novoseek inferred ⁵³	17566083
14	FGFR3	Fibroblast Growth Factor Receptor 3	Protein Coding	2.04	Novoseek inferred ⁵³	7493034

Sources

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

Sources

Expression for Dowling-Degos Disease 1

Search GEO for disease gene expression data for Dowling-Degos Disease 1.

Sources

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	Disease ⁶⁶ Show member pathways Infectious disease ⁶⁶	13.44	RBP1 POMC KITLG KIT IKBKG GNAS
2	Signal Transduction ⁶⁶	13.22	STK11 POMC KITLG KIT IKBKG GNAS
3	p70S6K Signaling ⁶⁴ Show member pathways mTOR Pathway ⁶⁴ Renin-Angiotensin Pathway ⁶⁴	12.62	STK11 KITLG KIT IKBKG GNAS FGFR3
4	PI3K-Akt signaling pathway ⁷⁴ Show member pathways Focal adhesion: PI3K-Akt-mTOR-signaling pathway ⁷⁴	12.57	FGFR3 IKBKG KIT KITLG STK11
5	Signaling by Receptor Tyrosine Kinases ⁶⁶	12.56	KITLG KIT FGFR3 ADAM10
6	Endometrial cancer ⁷⁴ Show member pathways Chromosomal and microsatellite instability in colorectal cancer ⁷⁴ Melanoma ⁷⁴ Non-small cell lung cancer ⁷⁴ Pancreatic adenocarcinoma pathway ⁷⁴ Signal transduction PTEN pathway ²²	12.38	MITF KIT IKBKG FGFR3
7	Ras signaling ⁷⁴	11.96	KIT IKBKG FGFR3
8	Tyrosine Kinases / Adaptors ³	11.84	KITLG KIT FGFR3
9	Development EPO-induced Jak-STAT pathway ²² Show member pathways EPO receptor signaling ⁷⁴ Signaling events mediated by Stem cell factor receptor (c-Kit) ⁶¹	11.68	MITF KITLG KIT
10	Development_Leptin signaling via JAK/STAT and MAPK cascades ²² Show member pathways phospho-PLA2 pathway ⁶⁶	11.02	POMC EDN1
11	Estrogen signaling pathway ⁷⁴	10.87	IKBKG GNAS
12	Melanocyte Development and Pigmentation ⁶⁴	10.87	POMC MITF KITLG KIT
13	Syndecan-3-mediated signaling events ⁶¹	10.78	POMC FGFR3
14	GPR143 in melanocytes and retinal pigment epithelium cells ⁷⁴	10.47	TYRP1 TYR POMC MITF GNAS
15	Melanin biosynthesis ⁶⁶	10.02	TYRP1 TYR

Sources

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