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 Degradation of the extracellular matrix and Cell junction organization. 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 49)
# Related Disease Score Top Affiliating Genes
1 bullous skin disease 31.0 COL17A1 DSG1 DSP DST EVPL LAMA3
2 bullous pemphigoid 30.9 COL17A1 DSG1 DSP DST EVPL LAMA3
3 pemphigus gestationis 11.1
4 pyloric atresia 10.2 COL17A1 PLEC
5 lichen planus pemphigoides 10.2 COL17A1 DST
6 pemphigoid gestationis 10.2 COL17A1 DST
7 herpetiform pemphigus 10.2 DSG1 DST
8 linear iga disease 10.2 COL17A1 DST
9 neurotic excoriation 10.2 COL17A1 DST
10 erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper-ige 10.2 DSG1 DSP
11 pemphigus vegetans 10.2 DSG1 PPL
12 striate palmoplantar keratoderma 10.2 DSG1 DSP
13 epidermolysis bullosa simplex with muscular dystrophy 10.2 COL17A1 DST PLEC
14 epidermolysis bullosa simplex 10.2 COL17A1 DST PLEC
15 lichen disease 10.2 COL17A1 DSG1 DST
16 epidermolysis bullosa junctionalis with pyloric atresia 10.1 COL17A1 DST PLEC
17 epithelial basement membrane dystrophy 10.1 COL17A1 PLEC
18 cardiomyopathy, dilated, with woolly hair and keratoderma 10.1 DSG1 DSP
19 herpes gestationis 10.1 COL17A1 DST TNFRSF25
20 ecthyma 10.1 COL17A1 DST
21 wheat allergy 10.1 TGM2 TOR1A
22 adie pupil 10.1 TNFRSF25 TOR1A
23 autoimmune disease of musculoskeletal system 10.1 COL17A1 DST TNFRSF25
24 heart block, congenital 10.1 TNFRSF25 TOR1A
25 extratemporal epilepsy 10.1 TGM2 TOR1A
26 epidermolysis bullosa acquisita 10.1 COL17A1 DST LAMA3
27 cicatricial pemphigoid 10.1 COL17A1 DST LAMA3
28 adrenal cortical hypofunction 10.1 TNFRSF25 TOR1A
29 junctional epidermolysis bullosa 10.1 COL17A1 DST LAMA3
30 balanitis 10.1 TGM2 TGM3
31 immunoglobulin alpha deficiency 10.0 TGM2 TNFRSF25 TOR1A
32 balanitis xerotica obliterans 10.0 TGM2 TGM3
33 autoimmune disease of gastrointestinal tract 10.0 TGM2 TNFRSF25 TOR1A
34 vesiculobullous skin disease 10.0 COL17A1 DST LAMA3 PLEC
35 epidermolysis bullosa, junctional, non-herlitz type 10.0 COL17A1 DST LAMA3 PLEC
36 follicular dendritic cell sarcoma 10.0 DSP EVPL PPL
37 palmoplantar keratosis 10.0 DSG1 DSP
38 immune system disease 10.0 COL17A1 TGM2 TNFRSF25 TOR1A
39 kleine-levin hibernation syndrome 9.9 DHDDS TOR1A
40 pemphigus foliaceus 9.9 DSG1 DST EVPL PPL
41 dermatitis herpetiformis 9.9 TGM2 TGM3
42 epidermolysis bullosa 9.9 COL17A1 DSP DST LAMA3 PLEC
43 subcorneal pustular dermatosis 9.8 COL17A1 DSG1 DST EVPL PPL
44 pemphigus vulgaris 9.8 DSG1 DSP DST EVPL PPL
45 cellulitis 9.7 COL17A1 DSG1 DSP DST LAMA3 PPL
46 celiac disease 1 9.7 DPP4 TGM2 TNFRSF25 TOR1A
47 paraneoplastic pemphigus 9.7 COL17A1 DSG1 DSP DST EVPL PPL
48 pemphigus 9.7 COL17A1 DSG1 DSP DST EVPL PPL
49 skin disease 9.6 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:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 integument MP:0010771 9.1 DSG1 DSP EVPL LAMA3 PLEC TGM3

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, 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
12.32 COL17A1 DST LAMA3 PLEC
2
Show member pathways
12.24 COL17A1 DST LAMA3 PLEC
3
Show member pathways
12.08 COL17A1 DPP4 DST LAMA3 PLEC
4
Show member pathways
11.91 DSG1 DSP EVPL PPL
5
Show member pathways
11.5 DSG1 DSP PLEC
6
Show member pathways
11.05 DSP DST EVPL PLEC PPL

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 cytoskeleton GO:0005856 9.91 DSP DST EVPL PLEC PPL TOR1A
2 focal adhesion GO:0005925 9.76 DPP4 DST PLEC TGM2
3 intermediate filament GO:0005882 9.72 DSP DST EVPL PLEC PPL
4 cell-cell junction GO:0005911 9.65 COL17A1 DSG1 DSP
5 basement membrane GO:0005604 9.58 COL17A1 DST LAMA3
6 cornified envelope GO:0001533 9.56 DSG1 DSP EVPL PPL
7 hemidesmosome GO:0030056 9.33 COL17A1 DST PLEC
8 cell junction GO:0030054 9.28 COL17A1 DPP4 DSG1 DSP DST EVPL
9 desmosome GO:0030057 9.26 DSG1 DSP EVPL PPL
10 plasma membrane GO:0005886 10.15 COL17A1 DPP4 DSG1 DSP DST PLEC
11 extracellular exosome GO:0070062 10.02 DPP4 DSP EVPL LAMA3 PLEC PPL

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

# Name GO ID Score Top Affiliating Genes
1 cell adhesion GO:0007155 9.85 DPP4 DSG1 DST LAMA3 TOR1A
2 keratinization GO:0031424 9.72 DSG1 DSP EVPL PPL TGM3
3 cornification GO:0070268 9.71 DSG1 DSP EVPL PPL
4 epidermis development GO:0008544 9.67 COL17A1 DSP EVPL LAMA3
5 keratinocyte differentiation GO:0030216 9.61 DSP EVPL TGM3
6 peptide cross-linking GO:0018149 9.56 DSP EVPL TGM2 TGM3
7 wound healing GO:0042060 9.55 DSP DST EVPL PLEC PPL
8 hemidesmosome assembly GO:0031581 9.26 COL17A1 DST LAMA3 PLEC
9 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 structural constituent of cytoskeleton GO:0005200 9.43 DSP PLEC PPL
2 cytoskeletal protein binding GO:0008092 9.33 DST PLEC TOR1A
3 structural molecule activity GO:0005198 9.1 DSP DST EVPL LAMA3 PLEC PPL
4 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 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
Content
Loading form....