MCID: DRM054
MIFTS: 33

Dermatitis, Atopic, 2

Categories: Genetic diseases, Skin diseases, Respiratory diseases, Neuronal diseases, Immune diseases

Aliases & Classifications for Dermatitis, Atopic, 2

MalaCards integrated aliases for Dermatitis, Atopic, 2:

Name: Dermatitis, Atopic, 2 57 29 6 40 73
Atod2 57 12 75
Dermatitis, Atopic, Susceptibility to, 2 57 13
Atopic Dermatitis 2 12 15
Dermatitis, Atopic, 2, Susceptibility to 6
Dermatitis, Atopic 2 57
Dermatitis Atopic 2 75
Dermatitis, Atopic 73
Atopic Eczema 75

Classifications:



External Ids:

OMIM 57 605803
Disease Ontology 12 DOID:0110098
MedGen 42 C1853965
MeSH 44 D003876
UMLS 73 C1853965

Summaries for Dermatitis, Atopic, 2

UniProtKB/Swiss-Prot : 75 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 dermatitis, atopic and psoriasis, and has symptoms including exanthema and pruritus. An important gene associated with Dermatitis, Atopic, 2 is FLG (Filaggrin), and among its related pathways/superpathways are Endocytosis and Viral carcinogenesis. Affiliated tissues include skin.

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

Description from OMIM: 605803

Related Diseases for Dermatitis, Atopic, 2

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:

# Related Disease Score Top Affiliating Genes
1 dermatitis, atopic 29.2 FLG LOR
2 psoriasis 28.2 FLG HLA-C LOR
3 dermatitis 9.9
4 ichthyosis vulgaris 9.9 FLG LOR
5 molluscum contagiosum 9.9 FLG LOR
6 epidermolytic hyperkeratosis 9.8 FLG LOR
7 porokeratosis 9.7 FLG LOR
8 congenital ichthyosiform erythroderma 9.7 FLG LOR
9 ichthyosis 9.3 FLG LOR
10 skin disease 8.9 FLG HLA-C LOR

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



Diseases related to Dermatitis, Atopic, 2

Symptoms & Phenotypes for Dermatitis, Atopic, 2

Clinical features from OMIM:

605803

UMLS symptoms related to Dermatitis, Atopic, 2:


exanthema, pruritus

Drugs & Therapeutics for Dermatitis, Atopic, 2

Genetic Tests for Dermatitis, Atopic, 2

Genetic tests related to Dermatitis, Atopic, 2:

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

Anatomical Context for Dermatitis, Atopic, 2

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

41
Skin

Publications for Dermatitis, Atopic, 2

Articles related to Dermatitis, Atopic, 2:

# Title Authors Year
1
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

Variations for Dermatitis, Atopic, 2

ClinVar genetic disease variations for Dermatitis, Atopic, 2:

6
# 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 FLG, 1-BP DEL, 3321A deletion Pathogenic,risk factor
8 FLG NM_002016.1(FLG): c.5170G> T (p.Gly1724Ter) single nucleotide variant Pathogenic rs747301529 GRCh37 Chromosome 1, 152282192: 152282192
9 FLG NM_002016.1(FLG): c.5170G> T (p.Gly1724Ter) single nucleotide variant Pathogenic rs747301529 GRCh38 Chromosome 1, 152309716: 152309716

Expression for Dermatitis, Atopic, 2

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

Pathways for Dermatitis, Atopic, 2

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

# Super pathways Score Top Affiliating Genes
1 11.54 HLA-C HRAS
2 11.26 HLA-C HRAS
3 10.83 HLA-C HRAS

GO Terms for Dermatitis, Atopic, 2

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

Sources for Dermatitis, Atopic, 2

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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