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ATOD2
MCID: DRM054
MIFTS: 47

Dermatitis, Atopic, 2 (ATOD2)

Categories: Genetic diseases, Immune diseases, Neuronal diseases, Skin diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Drugs
Sources

Aliases & Classifications for Dermatitis, Atopic, 2

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MalaCards integrated aliases for Dermatitis, Atopic, 2:

Name: Dermatitis, Atopic, 2 57 29 6 70
Atod2 57 12 72
Dermatitis, Atopic, Susceptibility to, 2 57 13
Dermatitis, Atopic, 2, Susceptibility to 29 6
Atopic Dermatitis 2 12 15
Dermatitis, Atopic, Type 2 39
Dermatitis, Atopic 2 57
Dermatitis Atopic 2 72
Dermatitis, Atopic 70
Atopic Eczema 72

Classifications:

MalaCards categories:
Global: Genetic diseases
Anatomical: Immune diseases Skin diseases Neuronal diseases
See all MalaCards categories (disease lists)


External Ids:

Disease Ontology 12 DOID:0110098
OMIM® 57 605803
OMIM Phenotypic Series 57 PS603165
MeSH 44 D003876
MedGen 41 C1853965
UMLS 70 C0011615 C1853965
Sources

Summaries for Dermatitis, Atopic, 2

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UniProtKB/Swiss-Prot : 72 Dermatitis atopic 2: Atopic dermatitis is a complex, inflammatory disease with multiple alleles at several loci thought to be involved in the pathogenesis. It commonly begins in infancy or early childhood and is characterized by a chronic relapsing form of skin inflammation, a disturbance of epidermal barrier function that culminates in dry skin, and IgE- mediated sensitization to food and environmental allergens. It is manifested by lichenification, excoriation, and crusting, mainly on the flexural surfaces of the elbow and knee.

MalaCards based summary : Dermatitis, Atopic, 2, also known as atod2, is related to skin disease and molluscum contagiosum, and has symptoms including pruritus and exanthema. An important gene associated with Dermatitis, Atopic, 2 is FLG (Filaggrin), and among its related pathways/superpathways are Keratinization and Defensins. The drugs carbamide peroxide and Zinc have been mentioned in the context of this disorder. Affiliated tissues include skin, t cells and pituitary.

Disease Ontology : 12 An atopic dermatitis conferred by variation in the FLG gene on chromosome 1q21.

More information from OMIM: 605803 PS603165
Sources

Related Diseases for Dermatitis, Atopic, 2

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Diseases in the Dermatitis, Atopic family:

Dermatitis, Atopic, 2 Dermatitis, Atopic, 3
Dermatitis, Atopic, 4 Dermatitis, Atopic, 5
Dermatitis, Atopic, 6 Dermatitis, Atopic, 7
Dermatitis, Atopic, 8 Dermatitis, Atopic, 9

Diseases related to Dermatitis, Atopic, 2 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 205)
# Related Disease Score Top Affiliating Genes
1 skin disease 30.7 LORICRIN FLG-AS1 FLG DSC1 CDSN
2 molluscum contagiosum 30.3 LORICRIN FLG
3 skin atrophy 30.3 LORICRIN FLG
4 ichthyosis vulgaris 30.3 LORICRIN FLG-AS1 FLG CDSN
5 irritant dermatitis 30.1 LORICRIN FLG
6 dermatitis 30.0 LORICRIN FLG-AS1 FLG
7 psoriasis 4 30.0 LORICRIN CDSN
8 dermatitis, atopic 29.8 LORICRIN FLG CDSN
9 psoriasis 29.3 SERPINB4 LORICRIN FLG CDSN
10 ichthyosis follicularis atrichia photophobia syndrome 11.1
11 rhinitis 10.8
12 food allergy 10.8
13 allergic rhinitis 10.8
14 allergic disease 10.6
15 exanthem 10.5
16 asthma 10.5
17 contact dermatitis 10.5
18 milk allergy 10.4
19 respiratory allergy 10.4
20 attention deficit-hyperactivity disorder 10.4
21 ichthyosis 10.4
22 allergic asthma 10.4
23 asthma-related traits 4 10.3
24 urticaria 10.3
25 allergic contact dermatitis 10.3
26 neurodermatitis 10.3
27 conjunctivitis 10.3
28 herpes simplex 10.3
29 proteasome-associated autoinflammatory syndrome 1 10.3
30 paroxysmal dystonia 10.3 FLG-AS1 FLG
31 multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly 10.2
32 acne 10.2
33 hypereosinophilic syndrome 10.2
34 cerebellar hypoplasia/atrophy, epilepsy, and global developmental delay 10.2 FLG-AS1 FLG
35 egg allergy 10.2
36 eczema herpeticum 10.2
37 alopecia 10.2
38 stomach carcinoma in situ 10.2 LORICRIN FLG
39 erythrokeratoderma 10.2 LORICRIN FLG
40 epidermolysis bullosa dystrophica 10.2 FLG DEFB124
41 orofacial cleft 8 10.2 LORICRIN FLG
42 dowling-degos disease 1 10.1
43 endocarditis 10.1
44 bacterial infectious disease 10.1
45 toxic shock syndrome 10.1
46 measles 10.1
47 seborrheic dermatitis 10.1
48 cytokine deficiency 10.1
49 peeling skin syndrome 10.1 FLG-AS1 CDSN
50 ichthyosis, congenital, autosomal recessive 4b 10.1 LORICRIN FLG

Graphical network of the top 20 diseases related to Dermatitis, Atopic, 2:



Diseases related to Dermatitis, Atopic, 2
Sources

Symptoms & Phenotypes for Dermatitis, Atopic, 2

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Clinical features from OMIM®:

605803 (Updated 20-May-2021)

UMLS symptoms related to Dermatitis, Atopic, 2:


pruritus; exanthema
Sources

Drugs & Therapeutics for Dermatitis, Atopic, 2

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Drugs for Dermatitis, Atopic, 2 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 303)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
carbamide peroxide Approved Phase 4 124-43-6
2
Zinc Approved, Investigational Phase 4 7440-66-6 32051
3
Zinc oxide Approved Phase 4 1314-13-2
4
Coal tar Approved Phase 4 8007-45-2
5
Glycerol Approved, Investigational Phase 4 56-81-5 753
6
Methylprednisolone Approved, Vet_approved Phase 4 83-43-2 6741
7
Prednisolone Approved, Vet_approved Phase 4 50-24-8 5755
8
Prednisolone acetate Approved, Vet_approved Phase 4 52-21-1
9
Prednisolone phosphate Approved, Vet_approved Phase 4 302-25-0
10
Methylprednisolone hemisuccinate Approved Phase 4 2921-57-5
11
Desonide Approved, Investigational Phase 4 638-94-8 5311066
12
Fluticasone Approved, Experimental Phase 4 90566-53-3 62924
13
Montelukast Approved Phase 4 158966-92-8 5281040
14
Methylprednisolone aceponate Approved, Vet_approved Phase 4 86401-95-8
15
Levocetirizine Approved Phase 4 130018-77-8 1549000
16
Alefacept Approved, Investigational, Withdrawn Phase 4 222535-22-0
17
Fluocinonide Approved, Investigational Phase 4 356-12-7 9642
18
Desoximetasone Approved Phase 4 382-67-2 5311067
19
Mupirocin Approved, Investigational, Vet_approved Phase 4 12650-69-0 446596
20
Petrolatum Approved, Investigational Phase 4 8009-03-8
21
Triamcinolone Approved, Vet_approved Phase 4 124-94-7 31307
22
tannic acid Approved Phase 4 1401-55-4
23
Benzocaine Approved, Investigational Phase 4 1994-09-7, 94-09-7 2337
24
Betamethasone Approved, Vet_approved Phase 4 378-44-9 9782
25
Pimecrolimus Approved, Investigational Phase 4 137071-32-0 6447131 17753757
26
Alitretinoin Approved, Investigational Phase 4 5300-03-8 444795 449171
27
Lactitol Approved, Investigational Phase 4 585-86-4 157355
28
Vitamin D3 Approved, Nutraceutical Phase 4 67-97-0 6221 5280795
29
Vitamin D Approved, Nutraceutical, Vet_approved Phase 4 1406-16-2
30
Ergocalciferol Approved, Nutraceutical Phase 4 50-14-6 5280793
31
Prednisolone hemisuccinate Experimental Phase 4 2920-86-7
32
Cortisone Experimental Phase 4 53-06-5 222786
33 Clobetasone butyrate Phase 4
34 Keratolytic Agents Phase 4
35 Emollients Phase 4
36 Methylprednisolone Acetate Phase 4
37 Sodium hypochlorite Phase 4
38 Eusol Phase 4
39 Histamine H1 Antagonists, Non-Sedating Phase 4
40 Neuroprotective Agents Phase 4
41 Bronchodilator Agents Phase 4
42 decanoic acid Phase 4
43 Leukotriene Antagonists Phase 4
44 Immunoglobulin A Phase 4
45 Disinfectants Phase 4
46 Evening Primrose Phase 4
47 Linoleate Phase 4
48 Hormone Antagonists Phase 4
49 glucocorticoids Phase 4
50 Triamcinolone hexacetonide Phase 4

Interventional clinical trials:

(show top 50) (show all 888)
# Name Status NCT ID Phase Drugs
1 Effect of Moisturizing Creams on Skin Barrier Function Unknown status NCT00771121 Phase 4 urea/lactic acid;Placebo
2 A Randomized Controlled Pilot Study Comparing the Efficacy of Topical Coal Tar to Topical Corticosteroids in Children Aged 1 to < 16 Years With Moderate-severe Atopic Dermatitis Unknown status NCT03461302 Phase 4 Topical coal tar;Topical corticosteroids
3 Efficacy of KAM2904 Face Cream and KAM3008 Body Lotion Treatment in Children With Atopic Dermatitis (AD) Unknown status NCT01781663 Phase 4
4 An Exploratory 16 Week, Double Blind, Placebo-Controlled Single Center Mechanistic Study to Determine the Effect of Rhumab-E25 on Phenotype and Function of IgE Mediated Antigen Presentation by Dendritic Cells in Subjects With Atopic Dermatitis. Completed NCT00822783 Phase 4 Omalizumab;Placebo
5 The Role of Anti-IgE (Omalizumab) in the Management of Severe Recalcitrant Paediatric Atopic Eczema Completed NCT02300701 Phase 4 Xolair;Placebo
6 Prednisolone vs. Ciclosporine in Severe Atopic Eczema Completed NCT00445081 Phase 4 Prednisolone;Ciclosporine A
7 An Open-label Multicenter 12-month Long Term Study on Skin Reconstitution With Pimecrolimus Cream 1% in Adult Patients With Atopic Eczema and Corticosteroid Induced Skin Damage Completed NCT00367393 Phase 4 Pimecrolimus cream 1%
8 A 3-Month Open Label, National, Quality of Life , and Safety Study With Pimecrolimus Cream, 1% in Children (Age 2-12 Years ) With Atopic Dermatitis Completed NCT00484003 Phase 4 Pimecrolimus cream 1%
9 Efficacy and Tolerability of New Topical Formulations in Subjects With Atopic Dermatitis Completed NCT02732314 Phase 4 Investigational OTC Cream;0.05% Desonide Cream
10 Comparing Efficacy of Topical Steroid Cream vs. Ointment Formulations Using Wet Dressings for Treatment of Atopic Dermatitis Completed NCT02680301 Phase 4 0.1% triamcinolone CREAM;0.1% triamcinolone OINTMENT
11 A Randomized, Investigator Blinded Study of Protopic (Tacrolimus) Ointment Vs. Elidel (Pimecrolimus) Cream in Patients With Atopic Dermatitis Completed NCT00666302 Phase 4 tacrolimus ointment;pimecrolimus cream
12 Clinical Evaluation of the Effect of Moisturising Cream on Skin Moisture in Atopic Dermatitis Completed NCT00846235 Phase 4
13 Phase IV - Evaluation of Cetaphil Advanced Usage to Control Light to Moderate Atopic Dermatitis, in Attempt to Reduce the Necessity of Topic Corticoids Application Completed NCT01063218 Phase 4
14 Comparative, Multicentre, Randomized, Double-blind Study to Assess the Efficacy of Tacrolimus 0.1% Ointment Versus Fluticasone 0.005% Ointment in Adult Patients Suffering From Moderate to Severe Atopic Dermatitis and Presenting With So-called 'Red Face' Lesions of the Head and Neck. Completed NCT00690105 Phase 4 tacrolimus 0.1%;fluticasone 0.005 %
15 Comparative, Multicentre, Randomised, Double-blind Study to Assess the Efficacy of Tacrolimus 0.03% Ointment Versus Fluticasone 0.005% Ointment in Children Aged 2 Years or Over Suffering From Moderate to Severe Atopic Dermatitis. Completed NCT00689832 Phase 4 Tacrolimus 0.03%;Fluticasone 0.005%
16 A Phase IV,Open Label Study of the Treatment of Children With Moderate to Severe Atopic Dermatitis (AD) Using Locobase® REPAIR as an Adjunctive to Standard Treatment Completed NCT00673725 Phase 4 Locobase® REPAIR
17 Montelukast as Adjunct Treatment in Children With Atopic Dermatitis Completed NCT02534467 Phase 4 Montelukast
18 A Randomized, Investigator Blinded Study of Protopic (Tacrolimus) Ointment Vs. Elidel (Pimecrolimus) Cream in Pediatric Patients With Mild Atopic Dermatitis Completed NCT00667160 Phase 4 tacrolimus ointment;pimecrolimus cream
19 A Randomized, Investigator Blinded Study of Protopic (Tacrolimus) Ointment Vs. Elidel (Pimecrolimus) Cream in Pediatric Patients With Moderate to Severe Atopic Dermatitis Completed NCT00666159 Phase 4 tacrolimus ointment;pimecrolimus cream
20 The Efficacy and Safety of Tacrolimus Ointment in Adult Patients With Moderate to Severe Atopic Dermatitis Completed NCT01828879 Phase 4 Tacrolimus
21 Pimecrolimus Cream 1% Plus Topical Corticosteroid in Patients (2-17 Years of Age) With Severe Atopic Dermatitis Completed NCT00121381 Phase 4 Pimecrolimus plus topical corticosteroid (TCS);Pimecrolimus vehicle (Placebo) plus topical corticosteroid (TCS)
22 A Multi-Center Study to Assess the Impact of Topical Corticosteroids on the Safety and Efficacy of Protopic Ointment in the Short-Term Treatment of Atopic Dermatitis and to Assess Protopic in the Long-term Management of Atopic Dermatitis Completed NCT00106496 Phase 4 Protopic;Corticosteroid;placebo
23 Double-Blind, Placebo Controlled, Randomized, Multicenter, Parallel-Group Study to Compare the Efficacy and Safety of Advantan Cream Twice Weekly With Advabase Cream During a Maintenance Phase of 16 Weeks After Successful Treatment of Atopic Dermatitis With Advantan Cream Completed NCT00185510 Phase 4 Methylprednisolone Aceponate (Advantan, BAY86-4862);Placebo
24 The Efficacy and Safety of Tacrolimus Ointment in Pediatric Patients With Moderate to Severe Atopic Dermatitis Completed NCT01782729 Phase 4 Tacrolimus
25 A Randomized, Double-blind, Placebo-controlled, Parallel Group Study to Evaluate the Efficacy of Montelukast (Singulair) in Participants Ages 1 - 8 Years Diagnosed With Atopic Dermatitis Induced by Food Allergens Completed NCT00557284 Phase 4 Montelukast;Placebo
26 A Phase IV, Open Label Study to Evaluate the Safety and Efficacy of Intramuscular (IM) Alefacept (Amevive) 15mg/wk in Subjects 18 Years and Older With Moderate to Severe Atopic Dermatitis Completed NCT00832585 Phase 4 Alefacept
27 Proactive Treatment With Tacrolimus Ointment in Children With Moderate/Severe Atopic Dermatitis: A Randomized, Multicenter, Open-label Study Completed NCT01745159 Phase 4 tacrolimus
28 An Investigator Blinded, Randomized, Controlled Study Comparing the Efficacy and Cost-Effectiveness of Aquaphor Healing Ointment, Atopiclair Nonsteroidal Cream (MAS063DP) and EpiCeram Skin Barrier Emulsion in Children With Mild to Moderate Atopic Dermatitis Completed NCT01093469 Phase 4 Atopiclair Nonsteroidal Cream;EpiCeram
29 Use of Altabax Ointment (Retapamulin 1%) BID for 7 Days in Treatment of Secondary Infection With Staphylococcus Aureus (MRSA and MSSA) and Streptococcus Pyogenes in Atopic Dermatitis Patients - Open Label Pilot Study Completed NCT01064947 Phase 4 Retapamulin 1%
30 An Open-Label Study Evaluating the Efficacy of Fluocinonide Cream 0.1% (Vanos) in Subjects With Atopic Dermatitis Completed NCT01049243 Phase 4 Fluocinonide Cream 0.1%
31 A Study to Determine the Dermatological Safety and Sensitizing Potential of HAT1 Topical Products Using Cumulative Irritation, Phototoxicity, and Repeated Insult Patch Tests Completed NCT03406117 Phase 4 HAT1
32 Prospective, Randomized, Investigator-Blind, Controlled, Pilot Study Comparing Effect of Epiceramâ„¢ Device vs Standard of Care Therapy of Mid-Strength Topical Steroid (Fluticasone Propionate 0.05%) in Treatment of Atopic Dermatitis in Pediatric Subjects Completed NCT00616538 Phase 4 Fluticasone Propionate 0.05%
33 Management of Pruritus With Xyzal in Atopic Dermatitis in a Randomized, Double-Blind, Placebo Controlled Study Completed NCT00884325 Phase 4 Levocetirizine dihydrochloride (Xyzal);placebo
34 Prospective Clinical Trial to Assess the Efficacy and Safety of EPOGAM 1000 in Patients With Atopic Dermatitis (Explorative Pilot Study) Completed NCT00878670 Phase 4 EPOGAM 1000
35 Open Label Multicenter Study, 52 Weeks Duration, Using Pimecrolimus Cream 1% for the Long-term Treatment of Mild to Moderate Atopic Dermatitis in Pediatric Patients Within a Usual Clinical Setting Completed NCT00509990 Phase 4 Pimecrolimus
36 A PHASE 4, MULTICENTER, OPEN-LABEL SAFETY STUDY OF CRISABOROLE OINTMENT 2% IN CHILDREN AGED 3 MONTHS TO LESS THAN 24 MONTHS WITH MILD TO MODERATE ATOPIC DERMATITIS Completed NCT03356977 Phase 4 Crisaborole ointment 2%
37 Bilateral Comparison Study of Elidel® (Pimecrolimus) Cream 1% and Hylatopicâ„¢ Plus Emollient Foamâ„¢ Emollient Foam in the Treatment of Subjects With Atopic Dermatitis Completed NCT01202149 Phase 4
38 Interaction of Orally Administered Lactobacillus Rhamnosus GG With Skin and Gut Microbiota and Humoral Immunity in Infants With Atopic Dermatitis Completed NCT01148667 Phase 4
39 An Open -Label Study to Evaluate the Effect of Pandel Cream 0.1% on the Hypothalamic Pituitary Adrenal Axis in the Pediatric and Adult Population Completed NCT01137032 Phase 4 Pandel Cream 0.1%
40 Adherence to Topical Hydrocortisone 17-butyrate 0.1% (Locoid®) Using Different Vehicles in Adults With Atopic Dermatitis Completed NCT00693693 Phase 4 hydrocortisone 17-butyrate 0.1% Cream preparation;hydrocortisone 17-butyrate 0.1% Ointment preparation;hydrocortisone 17-butyrate 0.1% Lipocream preparation
41 Measuring Adherence to Topical Therapy in Children With Atopic Dermatitis and the Impact of a Return Visit Completed NCT00654355 Phase 4 tacrolimus ointment
42 A Multicenter, Randomized, Double-blind Clinical Study to Examine the Efficacy and Safety of Zarzenda in Comparison to Elidel in the Management of Mild to Moderate Atopic Dermatitis in Children and Adolescents Completed NCT00568412 Phase 4 Elidel
43 A Multi-Center, Open-Label Study to Evaluate the Effect of ALTANA Inc's Cutivate (Fluticasone Propionate) Lotion 0.05% on the Hypothalmic Pituitary Adrenal (HPA) Axis in the Treatment of Atopic Dermatitis in a Pediatric Population Completed NCT00546000 Phase 4 Fluticasone propionate 0.05% lotion
44 A Multicenter, 3-week, Randomized, Double-blind, Parallel-group, Vehicle-controlled Study to Evaluate the Efficacy and Safety of Pimecrolimus Cream 1% in Pediatric Patients With Mild to Moderate Atopic Dermatitis Completed NCT00510003 Phase 4 Pimecrolimus
45 A Randomized, Investigator-Blind, Six-Week, Parallel Group, Multicenter Pilot Study to Compare the Safety and Efficacy of EpiCeram Skin Barrier Emulsion and Desonide Cream 0.05% in the Twice Daily Treatment of Pediatric Subjects With Moderate Atopic Dermatitis Completed NCT00828412 Phase 4 Desonide Cream 0.05%
46 Randomized, Double Blind, Controlled Trial on Effectiveness Combined Probiotics in the Treatment of Atopic Dermatitis in Children Completed NCT02519556 Phase 4 Probiatop;Placebo
47 Analysis of the Quality of Life, the Clinical Effectiveness and Cost-effectiveness of a Novel Educational Programme in Patients With Psoriasis and Atopic Dermatitis Completed NCT01077882 Phase 4
48 Efficacy of Desonide (Desonatetm) Gel 0.05% in Younger and Older Subjects With Atopic Dermatitis Completed NCT00690833 Phase 4 topical desonide hydrogel 0.05%
49 Montelukast as a Controller of Atopic Syndrome Completed NCT00559546 Phase 4 montelukast
50 Effect of Sublingual Immunotherapy With Mite Extract in Patients With Atopic Dermatits: Placebo-controlled Double-blind Randomized Study Completed NCT03388866 Phase 4 Mite extract sublingual immunotherapy (SLIT)

Search NIH Clinical Center for Dermatitis, Atopic, 2

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


Betamethasone
Betamethasone acetate
Betamethasone benzoate
betamethasone dipropionate
betamethasone sodium phosphate
Betamethasone valerate
BETAMETHASONE VALERATE PWDR
Doxepin
Doxepin Hydrochloride
fluocinolone
Fluocinolone Acetonide
methdilazine
Methdilazine hydrochloride
Pimecrolimus
Tacrolimus
Trimeprazine
trimeprazine tartrate
Triprolidine
Triprolidine Hydrochloride
Zinc Oxide
Sources

Genetic Tests for Dermatitis, Atopic, 2

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Genetic tests related to Dermatitis, Atopic, 2:

# Genetic test Affiliating Genes
1 Dermatitis, Atopic, 2 29 FLG
2 Dermatitis, Atopic, 2, Susceptibility to 29
Sources

Anatomical Context for Dermatitis, Atopic, 2

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MalaCards organs/tissues related to Dermatitis, Atopic, 2:

40
Skin, T Cells, Pituitary, Bone, Neutrophil, Eye, Heart
Sources

Publications for Dermatitis, Atopic, 2

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Articles related to Dermatitis, Atopic, 2:

# Title Authors PMID Year
1
Unique mutations in the filaggrin gene in Japanese patients with ichthyosis vulgaris and atopic dermatitis. 57 6
17291859 2007
2
Filaggrin loss-of-function mutations predispose to phenotypes involved in the atopic march. 6 57
17030239 2006
3
Loss-of-function variations within the filaggrin gene predispose for atopic dermatitis with allergic sensitizations. 57 6
16815158 2006
4
Common loss-of-function variants of the epidermal barrier protein filaggrin are a major predisposing factor for atopic dermatitis. 6 57
16550169 2006
5
Loss-of-function mutations in the gene encoding filaggrin cause ichthyosis vulgaris. 6 57
16444271 2006
6
Co-localization of susceptibility loci for psoriasis (PSORS4) and atopic dermatitis (ATOD2) on human chromosome 1q21. 61 57
16912508 2006
7
From atopic dermatitis to asthma: the atopic march. 6
20674819 2010
8
Analysis of four prevalent filaggrin mutations (R501X, 2282del4, R2447X and S3247X) in Austrian and German patients with atopic dermatitis. 6
19874431 2010
9
Comprehensive analysis of the gene encoding filaggrin uncovers prevalent and rare mutations in ichthyosis vulgaris and atopic eczema. 6
17417636 2007
10
Genetic linkage of childhood atopic dermatitis to psoriasis susceptibility loci. 57
11279517 2001
Sources

Variations for Dermatitis, Atopic, 2

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ClinVar genetic disease variations for Dermatitis, Atopic, 2:

6 (show all 18)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 FLG NM_002016.1(FLG):c.5170G>T (p.Gly1724Ter) SNV Pathogenic 522879 rs747301529 GRCh37: 1:152282192-152282192
GRCh38: 1:152309716-152309716
2 FLG NM_002016.1(FLG):c.7837A>T (p.Arg2613Ter) SNV Pathogenic 546021 rs567795279 GRCh37: 1:152279525-152279525
GRCh38: 1:152307049-152307049
3 FLG NM_002016.1(FLG):c.1501C>T (p.Arg501Ter) SNV Pathogenic 16319 rs61816761 GRCh37: 1:152285861-152285861
GRCh38: 1:152313385-152313385
4 FLG NM_002016.2(FLG):c.2282_2285del Microsatellite Pathogenic 16320 rs558269137 GRCh37: 1:152285077-152285080
GRCh38: 1:152312601-152312604
5 FLG NM_002016.1(FLG):c.7339C>T (p.Arg2447Ter) SNV Pathogenic 50932 rs138726443 GRCh37: 1:152280023-152280023
GRCh38: 1:152307547-152307547
6 FLG NM_002016.1(FLG):c.1501C>T (p.Arg501Ter) SNV Pathogenic 16319 rs61816761 GRCh37: 1:152285861-152285861
GRCh38: 1:152313385-152313385
7 FLG-AS1 , FLG NM_002016.1(FLG):c.487G>T (p.Gly163Ter) SNV Pathogenic 523875 rs1214424848 GRCh37: 1:152286875-152286875
GRCh38: 1:152314399-152314399
8 FLG NM_002016.1(FLG):c.7339C>T (p.Arg2447Ter) SNV Pathogenic 50932 rs138726443 GRCh37: 1:152280023-152280023
GRCh38: 1:152307547-152307547
9 FLG NM_002016.2(FLG):c.2476C>T SNV Pathogenic 265156 rs115746363 GRCh37: 1:152284886-152284886
GRCh38: 1:152312410-152312410
10 FLG NM_002016.2(FLG):c.9740C>A SNV Likely pathogenic 50930 rs150597413 GRCh37: 1:152277622-152277622
GRCh38: 1:152305146-152305146
11 FLG NM_002016.2(FLG):c.10849C>T (p.Gln3617Ter) SNV Likely pathogenic 1033883 GRCh37: 1:152276513-152276513
GRCh38: 1:152304037-152304037
12 FLG NM_002016.1(FLG):c.1501C>T (p.Arg501Ter) SNV risk factor 16319 rs61816761 GRCh37: 1:152285861-152285861
GRCh38: 1:152313385-152313385
13 FLG NM_002016.2(FLG):c.2282_2285del Microsatellite risk factor 16320 rs558269137 GRCh37: 1:152285077-152285080
GRCh38: 1:152312601-152312604
14 FLG NM_002016.1(FLG):c.7661C>G (p.Ser2554Ter) SNV risk factor 16321 rs121909626 GRCh37: 1:152279701-152279701
GRCh38: 1:152307225-152307225
15 FLG NM_002016.1(FLG):c.3321del (p.Gly1109fs) Deletion risk factor 420115 rs200519781 GRCh37: 1:152284041-152284041
GRCh38: 1:152311565-152311565
16 FLG NM_002016.2(FLG):c.2282_2285del Microsatellite Conflicting interpretations of pathogenicity 16320 rs558269137 GRCh37: 1:152285077-152285080
GRCh38: 1:152312601-152312604
17 FLG NM_002016.1(FLG):c.7801G>A (p.Asp2601Asn) SNV Uncertain significance 445660 rs146849256 GRCh37: 1:152279561-152279561
GRCh38: 1:152307085-152307085
18 FLG NM_002016.1(FLG):c.2379_2394delinsTCCTCAG (p.Leu794_Ser798delinsProGln) Indel Uncertain significance 547860 rs1553213630 GRCh37: 1:152284968-152284983
GRCh38: 1:152312492-152312507
Sources

Expression for Dermatitis, Atopic, 2

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Search GEO for disease gene expression data for Dermatitis, Atopic, 2.
Sources

Pathways for Dermatitis, Atopic, 2

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Pathways related to Dermatitis, Atopic, 2 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Keratinization 65
Show member pathways
 11.81 LORICRIN LCE1B FLG DSC1 CDSN
2
Defensins 65
Show member pathways
 11.35 DEFB132 DEFB128 DEFB127 DEFB125 DEFB124
Sources

GO Terms for Dermatitis, Atopic, 2

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Cellular components related to Dermatitis, Atopic, 2 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular region GO:0005576 9.7 DEFB132 DEFB128 DEFB127 DEFB125 DEFB124 CDSN
2 desmosome GO:0030057 8.96 DSC1 CDSN
3 cornified envelope GO:0001533 8.92 LORICRIN FLG DSC1 CDSN

Biological processes related to Dermatitis, Atopic, 2 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 innate immune response GO:0045087 9.72 DEFB132 DEFB128 DEFB127 DEFB125 DEFB124
2 keratinization GO:0031424 9.61 LORICRIN LCE1B DSC1
3 defense response to Gram-negative bacterium GO:0050829 9.54 DEFB132 DEFB128 DEFB127
4 killing of cells of other organism GO:0031640 9.46 DEFB132 DEFB128
5 cornification GO:0070268 9.46 LORICRIN FLG DSC1 CDSN
6 keratinocyte differentiation GO:0030216 9.43 LORICRIN FLG CDSN
7 peptide cross-linking GO:0018149 9.4 LORICRIN FLG
8 defense response to bacterium GO:0042742 9.35 DEFB132 DEFB128 DEFB127 DEFB125 DEFB124
9 defense response GO:0006952 9.02 DEFB132 DEFB128 DEFB127 DEFB125 DEFB124

Molecular functions related to Dermatitis, Atopic, 2 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 structural constituent of epidermis GO:0030280 8.62 LORICRIN FLG
Sources

Sources for Dermatitis, Atopic, 2

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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 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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