MCID: ATM016
MIFTS: 25

Autoimmune Disease of Skin and Connective Tissue

Categories: Immune diseases, Skin diseases

Aliases & Classifications for Autoimmune Disease of Skin and Connective Tissue

MalaCards integrated aliases for Autoimmune Disease of Skin and Connective Tissue:

Name: Autoimmune Disease of Skin and Connective Tissue 12 15

Classifications:



External Ids:

Disease Ontology 12 DOID:0060039

Summaries for Autoimmune Disease of Skin and Connective Tissue

Disease Ontology : 12 An autoimmune hypersensitivity disease that is the abnormal functioning of the immune system that causes your immune system to produce antibodies or T cells against cells and/or tissues in the skin and connective tissue.

MalaCards based summary : Autoimmune Disease of Skin and Connective Tissue is related to bullous skin disease and bullous pemphigoid. An important gene associated with Autoimmune Disease of Skin and Connective Tissue is COL17A1 (Collagen Type XVII Alpha 1 Chain), and among its related pathways/superpathways are Cell junction organization and Collagen chain trimerization. Affiliated tissues include skin, t cells and heart, and related phenotype is integument.

Related Diseases for Autoimmune Disease of Skin and Connective Tissue

Diseases related to Autoimmune Disease of Skin and Connective Tissue via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 46)
# Related Disease Score Top Affiliating Genes
1 bullous skin disease 30.7 COL17A1 DSG1 DSP DST EVPL LAMA3
2 bullous pemphigoid 30.4 COL17A1 DSG1 DSP DST EVPL LAMA3
3 pemphigus gestationis 11.2
4 pyloric atresia 10.4 COL17A1 PLEC
5 lichen planus pemphigoides 10.4 COL17A1 DST
6 herpetiform pemphigus 10.3 DSG1 DST
7 pemphigoid gestationis 10.3 COL17A1 DST
8 linear iga disease 10.3 COL17A1 DST
9 erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper-ige 10.3 DSG1 DSP
10 neurotic excoriation 10.3 COL17A1 DST
11 pemphigus vegetans 10.3 DSG1 PPL
12 epidermolysis bullosa simplex with muscular dystrophy 10.2 COL17A1 DST PLEC
13 lichen disease 10.2 COL17A1 DSG1 DST
14 epidermolysis bullosa simplex 10.2 COL17A1 DST PLEC
15 striate palmoplantar keratoderma 10.2 DSG1 DSP
16 epidermolysis bullosa junctionalis with pyloric atresia 10.2 COL17A1 DST PLEC
17 cardiomyopathy, dilated, with woolly hair and keratoderma 10.2 DSG1 DSP
18 wheat allergy 10.2 TGM2 TOR1A
19 epidermolysis bullosa acquisita 10.2 COL17A1 DST LAMA3
20 autoimmune disease of musculoskeletal system 10.2 COL17A1 DST TNFRSF25
21 cicatricial pemphigoid 10.2 COL17A1 DST LAMA3
22 epithelial basement membrane dystrophy 10.1 COL17A1 PLEC
23 adie pupil 10.1 TNFRSF25 TOR1A
24 junctional epidermolysis bullosa 10.1 COL17A1 DST LAMA3
25 balanitis 10.1 TGM2 TGM3
26 ecthyma 10.1 COL17A1 DST
27 heart block, congenital 10.1 TNFRSF25 TOR1A
28 extratemporal epilepsy 10.1 TGM2 TOR1A
29 balanitis xerotica obliterans 10.1 TGM2 TGM3
30 adrenal cortical hypofunction 10.0 TNFRSF25 TOR1A
31 immunoglobulin alpha deficiency 10.0 TGM2 TNFRSF25 TOR1A
32 vesiculobullous skin disease 10.0 COL17A1 DST LAMA3 PLEC
33 epidermolysis bullosa, junctional, non-herlitz type 10.0 COL17A1 DST LAMA3 PLEC
34 autoimmune disease of gastrointestinal tract 10.0 TGM2 TNFRSF25 TOR1A
35 celiac disease 1 10.0 TGM2 TNFRSF25 TOR1A
36 immune system disease 10.0 TGM2 TNFRSF25 TOR1A
37 follicular dendritic cell sarcoma 9.9 DSP EVPL PPL
38 pemphigus foliaceus 9.8 DSG1 DST EVPL PPL
39 epidermolysis bullosa 9.8 COL17A1 DSP DST LAMA3 PLEC
40 dermatitis herpetiformis 9.8 TGM2 TGM3
41 subcorneal pustular dermatosis 9.7 COL17A1 DSG1 DST EVPL PPL
42 pemphigus vulgaris 9.7 DSG1 DSP DST EVPL PPL
43 cellulitis 9.6 COL17A1 DSG1 DSP DST LAMA3 PPL
44 paraneoplastic pemphigus 9.5 COL17A1 DSG1 DSP DST EVPL PPL
45 pemphigus 9.5 COL17A1 DSG1 DSP DST EVPL PPL
46 skin disease 9.4 COL17A1 DSG1 DSP DST LAMA3 PLEC

Graphical network of the top 20 diseases related to Autoimmune Disease of Skin and Connective Tissue:



Diseases related to Autoimmune Disease of Skin and Connective Tissue

Symptoms & Phenotypes for Autoimmune Disease of Skin and Connective Tissue

MGI Mouse Phenotypes related to Autoimmune Disease of Skin and Connective Tissue:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 integument MP:0010771 9.17 DSG1 DSP EVPL FN1 LAMA3 PLEC

Drugs & Therapeutics for Autoimmune Disease of Skin and Connective Tissue

Search Clinical Trials , NIH Clinical Center for Autoimmune Disease of Skin and Connective Tissue

Genetic Tests for Autoimmune Disease of Skin and Connective Tissue

Anatomical Context for Autoimmune Disease of Skin and Connective Tissue

MalaCards organs/tissues related to Autoimmune Disease of Skin and Connective Tissue:

42
Skin, T Cells, Heart

Publications for Autoimmune Disease of Skin and Connective Tissue

Variations for Autoimmune Disease of Skin and Connective Tissue

Expression for Autoimmune Disease of Skin and Connective Tissue

Search GEO for disease gene expression data for Autoimmune Disease of Skin and Connective Tissue.

Pathways for Autoimmune Disease of Skin and Connective Tissue

Pathways related to Autoimmune Disease of Skin and Connective Tissue according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.33 COL17A1 DST LAMA3 PLEC
2
Show member pathways
12.28 COL17A1 DPP4 DST LAMA3 PLEC
3
Show member pathways
12.01 DSG1 DSP EVPL PPL
4
Show member pathways
12.01 COL17A1 DST FN1 LAMA3 PLEC
5
Show member pathways
11.56 DSG1 DSP PLEC
6
Show member pathways
11.05 DSP DST EVPL PLEC PPL
7 10.98 FN1 LAMA3
8 10.92 FN1 LAMA3
9 10.65 FN1 LAMA3

GO Terms for Autoimmune Disease of Skin and Connective Tissue

Cellular components related to Autoimmune Disease of Skin and Connective Tissue according to GeneCards Suite gene sharing:

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 extracellular exosome GO:0070062 9.96 DPP4 DSP EVPL FN1 LAMA3 PLEC
2 cytoskeleton GO:0005856 9.93 DSP DST EVPL PLEC PPL TOR1A
3 focal adhesion GO:0005925 9.78 DPP4 DST PLEC TGM2
4 intermediate filament GO:0005882 9.77 DSP DST EVPL PLEC PPL
5 collagen-containing extracellular matrix GO:0062023 9.73 COL17A1 FN1 LAMA3 TGM2
6 basement membrane GO:0005604 9.71 COL17A1 DST FN1 LAMA3
7 cell-cell junction GO:0005911 9.67 COL17A1 DSG1 DSP
8 cornified envelope GO:0001533 9.62 DSG1 DSP EVPL PPL
9 hemidesmosome GO:0030056 9.33 COL17A1 DST PLEC
10 cell junction GO:0030054 9.28 COL17A1 DPP4 DSG1 DSP DST EVPL
11 desmosome GO:0030057 9.26 DSG1 DSP EVPL PPL

Biological processes related to Autoimmune Disease of Skin and Connective Tissue according to GeneCards Suite gene sharing:

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 cell adhesion GO:0007155 9.91 DPP4 DSG1 DST FN1 LAMA3 TOR1A
2 keratinization GO:0031424 9.72 DSG1 DSP EVPL PPL TGM3
3 cornification GO:0070268 9.71 DSG1 DSP EVPL PPL
4 extracellular matrix organization GO:0030198 9.67 COL17A1 FN1 LAMA3
5 epidermis development GO:0008544 9.67 COL17A1 DSP EVPL LAMA3
6 peptide cross-linking GO:0018149 9.65 DSP EVPL FN1 TGM2 TGM3
7 keratinocyte differentiation GO:0030216 9.63 DSP EVPL TGM3
8 endodermal cell differentiation GO:0035987 9.48 FN1 LAMA3
9 hemidesmosome assembly GO:0031581 9.46 COL17A1 DST LAMA3 PLEC
10 wound healing GO:0042060 9.43 DSP DST EVPL FN1 PLEC PPL
11 intermediate filament cytoskeleton organization GO:0045104 9.1 DSP DST EVPL PLEC PPL TOR1A

Molecular functions related to Autoimmune Disease of Skin and Connective Tissue according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular matrix structural constituent GO:0005201 9.5 COL17A1 FN1 LAMA3
2 structural constituent of cytoskeleton GO:0005200 9.43 DSP PLEC PPL
3 cytoskeletal protein binding GO:0008092 9.33 DST PLEC TOR1A
4 structural molecule activity GO:0005198 9.1 DSP DST EVPL LAMA3 PLEC PPL
5 protein-glutamine gamma-glutamyltransferase activity GO:0003810 8.96 TGM2 TGM3

Sources for Autoimmune Disease of Skin and Connective Tissue

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
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