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ATOD2
MCID: DRM054
MIFTS: 36

Dermatitis, Atopic, 2 (ATOD2)

Categories: Genetic diseases, Immune diseases, Neuronal diseases, Respiratory diseases, Skin diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Drugs
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Aliases & Classifications for Dermatitis, Atopic, 2

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MalaCards integrated aliases for Dermatitis, Atopic, 2:

Name: Dermatitis, Atopic, 2 58 30 6 74
Atod2 58 12 76
Dermatitis, Atopic, Susceptibility to, 2 58 13
Atopic Dermatitis 2 12 15
Dermatitis, Atopic, 2, Susceptibility to 6
Dermatitis, Atopic, Type 2 41
Dermatitis, Atopic 2 58
Dermatitis Atopic 2 76
Dermatitis, Atopic 74
Atopic Eczema 76

Classifications:

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


External Ids:

Disease Ontology 12 DOID:0110098
OMIM 58 605803
MeSH 45 D003876
MedGen 43 C1853965
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Summaries for Dermatitis, Atopic, 2

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UniProtKB/Swiss-Prot : 76 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 ichthyosis and ichthyosis vulgaris, and has symptoms including pruritus and exanthema. An important gene associated with Dermatitis, Atopic, 2 is FLG (Filaggrin), and among its related pathways/superpathways is Keratinization. Affiliated tissues include skin.

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

Description from OMIM: 605803
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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 87)
# Related Disease Score Top Affiliating Genes
1 ichthyosis 30.0 FLG LOR
2 ichthyosis vulgaris 30.0 FLG LOR
3 dermatitis, atopic 29.8 FLG LOR
4 molluscum contagiosum 29.8 FLG LOR
5 skin disease 29.5 FLG HLA-C LOR
6 porokeratosis 29.3 FLG LOR
7 ichthyosis follicularis atrichia photophobia syndrome 11.2
8 asthma 10.7
9 ige responsiveness, atopic 10.6
10 rhinitis 10.6
11 food allergy 10.5
12 allergic rhinitis 10.4
13 attention deficit-hyperactivity disorder 10.3
14 pol iii-related leukodystrophies 10.3
15 milk allergy 10.3
16 neurofibromatosis, type ii 10.2
17 pollen allergy 10.2
18 urticaria 10.2
19 dermatitis 10.1
20 psoriasis 10.1
21 psoriasis 7 10.1
22 psoriasis 11 10.1
23 psoriasis 13 10.1
24 cataract 10.1
25 lymphoma 10.1
26 endocarditis 10.1
27 contact dermatitis 10.1
28 neurodermatitis 10.1
29 pustulosis of palm and sole 10.1
30 conjunctivitis 10.1
31 herpes simplex 10.1
32 seborrheic dermatitis 10.1
33 pfeiffer syndrome 9.9
34 systemic lupus erythematosus 9.9
35 dubowitz syndrome 9.9
36 myeloma, multiple 9.9
37 pigmentary disorder, reticulate, with systemic manifestations, x-linked 9.9
38 epidermolysis bullosa pruriginosa 9.9
39 nevus comedonicus 9.9
40 fetal akinesia deformation sequence 2 9.9
41 bipolar disorder 9.9
42 cutaneous leishmaniasis 9.9
43 dilated cardiomyopathy 9.9
44 ectodermal dysplasia 9.9
45 keratoconus 9.9
46 liver disease 9.9
47 skin conditions 9.9
48 variola major 9.9
49 infective endocarditis 9.9
50 ptosis 9.9

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



Diseases related to Dermatitis, Atopic, 2
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Symptoms & Phenotypes for Dermatitis, Atopic, 2

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Clinical features from OMIM:

605803

UMLS symptoms related to Dermatitis, Atopic, 2:


pruritus, exanthema
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Drugs & Therapeutics for Dermatitis, Atopic, 2

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Search Clinical Trials , NIH Clinical Center for Dermatitis, Atopic, 2

Inferred drug relations via UMLS 74 / NDF-RT 52 :
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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 30 FLG
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Anatomical Context for Dermatitis, Atopic, 2

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

42
Skin
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Publications for Dermatitis, Atopic, 2

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Articles related to Dermatitis, Atopic, 2:

# Title Authors Year
1
Methotrexate versus azathioprine in patients with atopic dermatitis: 2-year follow-up data. ( 29111215 )
2018
2
Septic Arthritis and Atopic Dermatitis: 2 Cases and a Review of the Recent Literature. ( 26182693 )
2015
3
Unique mutations in the filaggrin gene in Japanese patients with ichthyosis vulgaris and atopic dermatitis. ( 17291859 )
2007
4
Loss-of-function mutations in the gene encoding filaggrin cause ichthyosis vulgaris. ( 16444271 )
2006
5
Co-localization of susceptibility loci for psoriasis (PSORS4) and atopic dermatitis (ATOD2) on human chromosome 1q21. ( 16912508 )
2006
6
Loss-of-function variations within the filaggrin gene predispose for atopic dermatitis with allergic sensitizations. ( 16815158 )
2006
7
Common loss-of-function variants of the epidermal barrier protein filaggrin are a major predisposing factor for atopic dermatitis. ( 16550169 )
2006
8
Filaggrin loss-of-function mutations predispose to phenotypes involved in the atopic march. ( 17030239 )
2006
9
Characterization of IgE-reactive autoantigens in atopic dermatitis. 2. A pilot study on IgE versus IgG subclass response and seasonal variation of IgE autoreactivity. ( 10545765 )
1999
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Variations for Dermatitis, Atopic, 2

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ClinVar genetic disease variations for Dermatitis, Atopic, 2:

6 (show all 18)
# Gene Variation Type Significance SNP ID Assembly Location
1 FLG NM_002016.1(FLG): c.1501C> T (p.Arg501Ter) single nucleotide variant Pathogenic rs61816761 GRCh37 Chromosome 1, 152285861: 152285861
2 FLG NM_002016.1(FLG): c.1501C> T (p.Arg501Ter) single nucleotide variant Pathogenic rs61816761 GRCh38 Chromosome 1, 152313385: 152313385
3 FLG NM_002016.1(FLG): c.2282_2285delCAGT (p.Ser761Cysfs) deletion risk factor rs558269137 GRCh38 Chromosome 1, 152312601: 152312604
4 FLG NM_002016.1(FLG): c.2282_2285delCAGT (p.Ser761Cysfs) deletion risk factor rs558269137 GRCh37 Chromosome 1, 152285077: 152285080
5 FLG NM_002016.1(FLG): c.7661C> G (p.Ser2554Ter) single nucleotide variant Pathogenic,risk factor rs121909626 GRCh37 Chromosome 1, 152279701: 152279701
6 FLG NM_002016.1(FLG): c.7661C> G (p.Ser2554Ter) single nucleotide variant Pathogenic,risk factor rs121909626 GRCh38 Chromosome 1, 152307225: 152307225
7 FLG NM_002016.1(FLG): c.7339C> T (p.Arg2447Ter) single nucleotide variant Pathogenic rs138726443 GRCh37 Chromosome 1, 152280023: 152280023
8 FLG NM_002016.1(FLG): c.7339C> T (p.Arg2447Ter) single nucleotide variant Pathogenic rs138726443 GRCh38 Chromosome 1, 152307547: 152307547
9 FLG NM_002016.1(FLG): c.3321delA (p.Gly1109Glufs) deletion Pathogenic rs200519781 GRCh38 Chromosome 1, 152311565: 152311565
10 FLG NM_002016.1(FLG): c.3321delA (p.Gly1109Glufs) deletion Pathogenic rs200519781 GRCh37 Chromosome 1, 152284041: 152284041
11 FLG NM_002016.1(FLG): c.7801G> A (p.Asp2601Asn) single nucleotide variant Conflicting interpretations of pathogenicity rs146849256 GRCh37 Chromosome 1, 152279561: 152279561
12 FLG NM_002016.1(FLG): c.7801G> A (p.Asp2601Asn) single nucleotide variant Conflicting interpretations of pathogenicity rs146849256 GRCh38 Chromosome 1, 152307085: 152307085
13 FLG NM_002016.1(FLG): c.5170G> T (p.Gly1724Ter) single nucleotide variant Pathogenic rs747301529 GRCh37 Chromosome 1, 152282192: 152282192
14 FLG NM_002016.1(FLG): c.5170G> T (p.Gly1724Ter) single nucleotide variant Pathogenic rs747301529 GRCh38 Chromosome 1, 152309716: 152309716
15 FLG NM_002016.1(FLG): c.487G> T (p.Gly163Ter) single nucleotide variant Pathogenic rs1214424848 GRCh37 Chromosome 1, 152286875: 152286875
16 FLG NM_002016.1(FLG): c.487G> T (p.Gly163Ter) single nucleotide variant Pathogenic rs1214424848 GRCh38 Chromosome 1, 152314399: 152314399
17 FLG NM_002016.1(FLG): c.2379_2394del16insTCCTCAG (p.Leu794_Ser798delinsProGln) indel Uncertain significance rs1553213630 GRCh37 Chromosome 1, 152284968: 152284983
18 FLG NM_002016.1(FLG): c.2379_2394del16insTCCTCAG (p.Leu794_Ser798delinsProGln) indel Uncertain significance rs1553213630 GRCh38 Chromosome 1, 152312492: 152312507
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Expression for Dermatitis, Atopic, 2

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Search GEO for disease gene expression data for Dermatitis, Atopic, 2.
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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 67
Show member pathways
 11.08 FLG LOR
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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 cornified envelope GO:0001533 8.62 FLG LOR

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

# Name GO ID Score Top Affiliating Genes
1 cornification GO:0070268 9.16 FLG LOR
2 keratinocyte differentiation GO:0030216 8.96 FLG LOR
3 peptide cross-linking GO:0018149 8.62 FLG LOR

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

# Name GO ID Score Top Affiliating Genes
1 structural molecule activity GO:0005198 8.96 FLG LOR
2 structural constituent of epidermis GO:0030280 8.62 FLG LOR
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Sources for Dermatitis, Atopic, 2

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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 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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