MCID: ATM016
MIFTS: 24

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 pemphigus gestationis 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 Collagen chain trimerization and Keratinization. Affiliated tissues include skin, t cells and b 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 top 50) (show all 165)
# Related Disease Score Top Affiliating Genes
1 pemphigus gestationis 32.3 DST DSP DSG3 DSG1 COL17A1
2 bullous pemphigoid 31.2 PPL PLEC LAMA3 EVPL DST DSP
3 bullous skin disease 29.5 TOR1A TNFRSF25 TGM2 PPL PLEC LAMA3
4 lichen planus pemphigoides 10.6 DST COL17A1
5 pemphigus erythematosus 10.6 DSP DSG3
6 linear iga disease 10.6 DST COL17A1
7 bullous impetigo 10.6 DSG3 DSG1
8 pemphigus vegetans 10.5 PPL DSG1
9 neurotic excoriation 10.5 DST COL17A1
10 epidermolysis bullosa simplex 10.5 PLEC DST COL17A1
11 herpetiform pemphigus 10.5 DST DSG3 DSG1
12 erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper-ige 10.5 DSP DSG1
13 jejunoileitis 10.5 TOR1A TGM2
14 striate palmoplantar keratoderma 10.5 DSP DSG1
15 lymphocytic gastritis 10.5 TOR1A TGM2
16 diffuse palmoplantar keratoderma 10.5 DSP DSG1
17 gastric squamous cell carcinoma 10.5 SERPINA3 CCR6
18 benign chronic pemphigus 10.5 DSP DSG3 DSG1
19 tropical sprue 10.5 TOR1A TGM2
20 pachyonychia congenita 1 10.4 PLEC DSP DSG1
21 pyoderma 10.4 DSG3 DSG1 CCR6
22 spastic monoplegia 10.4 TOR1A CD40LG
23 lymphocytic colitis 10.4 TOR1A TNFRSF25 TGM2
24 impetigo 10.4 DSG3 DSG1 CD40LG
25 meningothelial meningioma 10.4 SERPINA3 DSP
26 keratosis 10.4 DST DSP DSG1
27 palmoplantar keratosis 10.4 DSP DSG3 DSG1
28 duodenitis 10.4 TOR1A TGM2 CD40LG
29 alpha chain disease 10.4 TOR1A TGM2 CD40LG
30 lichen planus 10.4 DST DSG3 DSG1 COL17A1
31 giardiasis 10.4 TOR1A TGM2 CD40LG
32 adrenal cortical hypofunction 10.4 TOR1A TNFRSF25 CCR6
33 gluten allergy 10.4 TOR1A TGM6 TGM2
34 epidermolysis bullosa acquisita 10.4 LAMA3 DST COL17A1
35 cicatricial pemphigoid 10.4 LAMA3 DST COL17A1
36 wheat allergy 10.4 TOR1A TGM6 TGM2
37 torsion dystonia 2 10.4 TOR1A TGM2
38 chancroid 10.4 CD40LG CCR6
39 central nervous system vasculitis 10.4 SERPINA3 CD40LG CCR6
40 cecal disease 10.3 SERPINA3 CD40LG CCR6
41 pyelitis 10.3 SERPINA3 CD40LG CCR6
42 plasma protein metabolism disease 10.3 SERPINA3 CD40LG CCR6
43 type 1 diabetes mellitus 2 10.3 TOR1A TNFRSF25
44 middle ear disease 10.3 SERPINA3 CD40LG CCR6
45 acantholytic acanthoma 10.3 DSG3 DSG1
46 epidermolysis bullosa dystrophica 10.3 RNF103 PLEC DST COL17A1
47 balanitis 10.3 TGM2 DPP4
48 autoimmune polyendocrine syndrome, type ii 10.3 TNFRSF25 CCR6
49 malignant essential hypertension 10.3 TNFRSF25 CD40LG
50 vein disease 10.3 SERPINA3 CD40LG CCR6

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:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 integument MP:0010771 9.28 CD40LG DSG1 DSG3 DSP EPPK1 EVPL

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:

40
Skin, T Cells, B Cells, Bone, Thymus, Bone Marrow, Lymph Node

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
12.45 PLEC LAMA3 DST DPP4 COL17A1
2
Show member pathways
12.01 PPL EVPL DSP DSG3 DSG1
3
Show member pathways
11.32 PLEC DSP DSG3 DSG1
4 11.2 TNFRSF25 ICOSLG CD40LG
5
Show member pathways
11.13 PPL PLEC EVPL EPPK1 DST DSP

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 membrane GO:0016020 10.36 TOR1A TNFRSF25 RNF103 PPL PLEC ICOSLG
2 plasma membrane GO:0005886 10.25 TNFRSF25 TGM2 PPL PLEC ICOSLG EPPK1
3 extracellular exosome GO:0070062 10.11 TOR1A TGM2 SERPINA3 PPL PLEC LAMA3
4 cytoskeleton GO:0005856 10.04 TOR1A PPL PLEC EVPL EPPK1 DST
5 intermediate filament GO:0005882 9.8 PPL PLEC EVPL EPPK1 DST DSP
6 cell-cell junction GO:0005911 9.78 DSP DSG3 DSG1 COL17A1
7 basement membrane GO:0005604 9.69 LAMA3 DST COL17A1
8 cornified envelope GO:0001533 9.65 PPL EVPL DSP DSG3 DSG1
9 intermediate filament cytoskeleton GO:0045111 9.61 PLEC EVPL EPPK1
10 hemidesmosome GO:0030056 9.46 PLEC EPPK1 DST COL17A1
11 cell junction GO:0030054 9.36 TOR1A PPL PLEC EVPL EPPK1 DST
12 desmosome GO:0030057 9.35 PPL EVPL DSP DSG3 DSG1

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 DST DSG3 DSG1 DPP4
2 keratinization GO:0031424 9.77 PPL EVPL DSP DSG3 DSG1
3 cell-cell adhesion GO:0098609 9.76 LAMA3 DSP DSG3 DSG1
4 cornification GO:0070268 9.72 PPL EVPL DSP DSG3 DSG1
5 epidermis development GO:0008544 9.71 LAMA3 EVPL DSP COL17A1
6 integrin-mediated signaling pathway GO:0007229 9.67 LAMA3 DST CD40LG
7 T cell costimulation GO:0031295 9.65 ICOSLG DPP4 CD40LG
8 peptide cross-linking GO:0018149 9.56 TGM6 TGM2 EVPL DSP
9 hemidesmosome assembly GO:0031581 9.46 PLEC LAMA3 DST COL17A1
10 wound healing GO:0042060 9.43 PPL PLEC EVPL EPPK1 DST DSP
11 intermediate filament cytoskeleton organization GO:0045104 9.17 TOR1A PPL PLEC EVPL EPPK1 DST

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 PPL PLEC DSP
2 cytoskeletal protein binding GO:0008092 9.33 TOR1A PLEC DST
3 intermediate filament binding GO:0019215 8.96 EVPL EPPK1
4 protein-glutamine gamma-glutamyltransferase activity GO:0003810 8.62 TGM6 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 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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