MCID: ATM016
MIFTS: 23

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 and t cells, 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 47)
# Related Disease Score Top Affiliating Genes
1 bullous skin disease 30.2 PPL LAMA3 EVPL DST DSP DSG1
2 bullous pemphigoid 29.8 PPL PLEC LAMA3 EVPL DST DSP
3 pemphigus gestationis 11.3
4 pyloric atresia 10.6 PLEC COL17A1
5 lichen planus pemphigoides 10.6 DST COL17A1
6 herpetiform pemphigus 10.6 DST DSG1
7 pemphigoid gestationis 10.6 DST COL17A1
8 linear iga disease 10.6 DST COL17A1
9 neurotic excoriation 10.5 DST COL17A1
10 erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper-ige 10.5 DSP DSG1
11 pemphigus vegetans 10.5 PPL DSG1
12 lichen disease 10.4 DST DSG1 COL17A1
13 epidermolysis bullosa simplex with muscular dystrophy 10.4 PLEC DST COL17A1
14 epidermolysis bullosa simplex 10.4 PLEC DST COL17A1
15 epidermolysis bullosa junctionalis with pyloric atresia 10.4 PLEC DST COL17A1
16 wheat allergy 10.4 TOR1A TGM2
17 striate palmoplantar keratoderma 10.4 DSP DSG1
18 adie pupil 10.3 TOR1A TNFRSF25
19 heart block, congenital 10.3 TOR1A TNFRSF25
20 balanitis 10.2 TGM3 TGM2
21 epidermolysis bullosa acquisita 10.2 LAMA3 DST COL17A1
22 cicatricial pemphigoid 10.2 LAMA3 DST COL17A1
23 extratemporal epilepsy 10.2 TOR1A TGM2
24 cardiomyopathy, dilated, with woolly hair and keratoderma 10.2 DSP DSG1
25 junctional epidermolysis bullosa 10.2 LAMA3 DST COL17A1
26 epithelial basement membrane dystrophy 10.2 PLEC COL17A1
27 autoimmune disease of gastrointestinal tract 10.2 TOR1A TNFRSF25 TGM2
28 adrenal cortical hypofunction 10.1 TOR1A TNFRSF25
29 celiac disease 1 10.1 TOR1A TNFRSF25 TGM2
30 balanitis xerotica obliterans 10.1 TGM3 TGM2
31 immune system disease 10.1 TOR1A TNFRSF25 TGM2
32 ecthyma 10.0 DST COL17A1
33 vesiculobullous skin disease 10.0 PLEC LAMA3 DST COL17A1
34 epidermolysis bullosa, junctional, non-herlitz type 10.0 PLEC LAMA3 DST COL17A1
35 autoimmune disease 9.9 DSG1 COL17A1 CD40LG
36 follicular dendritic cell sarcoma 9.9 PPL EVPL DSP
37 cryofibrinogenemia 9.8 FN1 CD40LG
38 pemphigus foliaceus 9.8 PPL EVPL DST DSG1
39 epidermolysis bullosa 9.7 PLEC LAMA3 DST DSP COL17A1
40 secondary syphilis 9.7 FN1 CD40LG
41 autoimmune disease of musculoskeletal system 9.6 TNFRSF25 DST COL17A1 CD40LG
42 subcorneal pustular dermatosis 9.5 PPL EVPL DST DSG1 COL17A1
43 immunoglobulin alpha deficiency 9.4 TOR1A TNFRSF25 TGM2 CD40LG
44 cellulitis 9.4 PPL LAMA3 DST DSP DSG1 COL17A1
45 paraneoplastic pemphigus 9.3 PPL EVPL DST DSP DSG1 COL17A1
46 pemphigus 9.3 PPL EVPL DST DSP DSG1 COL17A1
47 skin disease 9.0 TGM3 PLEC LAMA3 DST DSP DSG1

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:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 integument MP:0010771 9.23 CD40LG DSG1 DSP EVPL FN1 LAMA3

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:

41
Skin, T Cells

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 PLEC LAMA3 DST COL17A1
2
Show member pathways
12.28 PLEC LAMA3 DST DPP4 COL17A1
3
Show member pathways
12.01 PPL EVPL DSP DSG1
4
Show member pathways
12.01 PLEC LAMA3 FN1 DST COL17A1
5
Show member pathways
11.56 PLEC DSP DSG1
6
Show member pathways
11.05 PPL PLEC EVPL DST DSP
7 11 LAMA3 FN1
8 10.98 FN1 CD40LG
9 10.92 LAMA3 FN1
10 10.65 LAMA3 FN1

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 12)
# Name GO ID Score Top Affiliating Genes
1 extracellular exosome GO:0070062 9.96 TOR1A TGM3 TGM2 PPL PLEC LAMA3
2 cytoskeleton GO:0005856 9.93 TOR1A PPL PLEC EVPL DST DSP
3 focal adhesion GO:0005925 9.78 TGM2 PLEC DST DPP4
4 intermediate filament GO:0005882 9.77 PPL PLEC EVPL DST DSP
5 collagen-containing extracellular matrix GO:0062023 9.73 TGM2 LAMA3 FN1 COL17A1
6 basement membrane GO:0005604 9.71 LAMA3 FN1 DST COL17A1
7 cell-cell junction GO:0005911 9.69 DSP DSG1 COL17A1
8 cornified envelope GO:0001533 9.62 PPL EVPL DSP DSG1
9 hemidesmosome GO:0030056 9.33 PLEC DST COL17A1
10 cell junction GO:0030054 9.28 TOR1A PPL PLEC EVPL DST DSP
11 desmosome GO:0030057 9.26 PPL EVPL DSP DSG1
12 plasma membrane GO:0005886 10.19 TNFRSF25 TGM2 PPL PLEC DST DSP

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

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 LAMA3 FN1 COL17A1
2 structural constituent of cytoskeleton GO:0005200 9.43 PPL PLEC DSP
3 cytoskeletal protein binding GO:0008092 9.33 TOR1A PLEC DST
4 structural molecule activity GO:0005198 9.1 PPL PLEC LAMA3 EVPL DST DSP
5 protein-glutamine gamma-glutamyltransferase activity GO:0003810 8.96 TGM3 TGM2

Sources for Autoimmune Disease of Skin and Connective Tissue

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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