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 A hypersensitivity reaction type II 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 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 top 50) (show all 135)
# Related Disease Score Top Affiliating Genes
1 bullous skin disease 28.4 CD79A COL17A1 DSG1 DSP DST EVPL
2 bullous pemphigoid 27.9 CD79A COL17A1 DSG1 DSP DST EVPL
3 lichen planus pemphigoides 11.0 COL17A1 DST
4 pemphigoid gestationis 11.0 COL17A1 DST
5 neurotic excoriation 10.9 COL17A1 DST
6 herpetiform pemphigus 10.9 DSG1 DST
7 gluten allergy 10.8 CD79A TGM2
8 erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper-ige 10.8 DSG1 DSP
9 juvenile dermatitis herpetiformis 10.8 CD79A TNFRSF25
10 striate palmoplantar keratoderma 10.7 DSG1 DSP
11 pemphigus vegetans 10.7 DSG1 PPL
12 pyloric atresia 10.7 COL17A1 PLEC
13 linear iga disease 10.7 CD79A COL17A1 DST
14 selective igg deficiency disease 10.6 CD40LG CD79A
15 c1q nephropathy 10.6 CD40LG CD79A
16 epidermolysis bullosa simplex with muscular dystrophy 10.6 COL17A1 DST PLEC
17 epidermolysis bullosa junctionalis with pyloric atresia 10.6 COL17A1 DST PLEC
18 meningovascular neurosyphilis 10.6 CD40LG CD79A
19 alpha chain disease 10.6 CD40LG CD79A
20 brill-zinsser disease 10.6 CD40LG CD79A
21 exudative glomerulonephritis 10.6 CD40LG CD79A
22 cork-handlers' disease 10.6 CD40LG CD79A
23 epidermolysis bullosa simplex 10.6 COL17A1 DST PLEC
24 salpingo-oophoritis 10.6 CD40LG CD79A
25 early yaws 10.6 CD40LG CD79A
26 ventilation pneumonitis 10.6 CD40LG CD79A
27 chronic interstitial cystitis 10.6 CD40LG CD79A
28 axillary adenitis 10.6 CD40LG CD79A
29 cryofibrinogenemia 10.6 CD40LG CD79A
30 trichostrongyloidiasis 10.6 CD40LG CD79A
31 subacute bacterial endocarditis 10.6 CD40LG CD79A
32 heterophyiasis 10.6 CD40LG CD79A
33 immunoglobulin g deficiency 10.6 CD40LG CD79A
34 orbital granuloma 10.6 CD40LG CD79A
35 transient hypogammaglobulinemia of infancy 10.6 CD40LG CD79A
36 hyperglobulinemic purpura 10.6 CD40LG CD79A
37 gastroduodenitis 10.6 CD40LG CD79A
38 bacterial conjunctivitis 10.6 CD40LG CD79A
39 heavy chain disease 10.6 CD40LG CD79A
40 ophthalmia neonatorum 10.6 CD40LG CD79A
41 immunoglobulin a deficiency 1 10.6 CD40LG CD79A
42 parotid disease 10.6 CD40LG CD79A
43 cerebral arteritis 10.6 CD40LG CD79A
44 selective immunoglobulin deficiency disease 10.6 CD40LG CD79A
45 geniculate herpes zoster 10.6 CD40LG CD79A
46 erythema elevatum diutinum 10.6 CD40LG CD79A
47 sporotrichosis 10.6 CD40LG CD79A
48 fallopian tube disease 10.6 CD40LG CD79A
49 hyperimmunoglobulin syndrome 10.6 CD40LG CD79A
50 facial hemiatrophy 10.6 CD40LG COL17A1

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 9.17 CD40LG DSG1 DSP EVPL 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:

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

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:

# Name GO ID Score Top Affiliating Genes
1 cytoskeleton GO:0005856 9.88 DSP DST EVPL PLEC PPL TOR1A
2 cell-cell junction GO:0005911 9.63 COL17A1 DSG1 DSP
3 cornified envelope GO:0001533 9.56 DSG1 DSP EVPL PPL
4 cell junction GO:0030054 9.56 COL17A1 DSG1 DSP DST EVPL PLEC
5 basement membrane GO:0005604 9.54 COL17A1 DST LAMA3
6 hemidesmosome GO:0030056 9.33 COL17A1 DST PLEC
7 desmosome GO:0030057 8.92 DSG1 DSP EVPL PPL
8 plasma membrane GO:0005886 10.13 CD40LG CD79A COL17A1 DSG1 DSP DST
9 extracellular exosome GO:0070062 10.02 DSG1 DSP DST EVPL LAMA3 PLEC

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 cornification GO:0070268 9.67 DSG1 DSP EVPL PPL
2 epidermis development GO:0008544 9.62 COL17A1 DSP EVPL LAMA3
3 keratinocyte differentiation GO:0030216 9.58 DSP EVPL TGM3
4 keratinization GO:0031424 9.55 DSG1 DSP EVPL PPL TGM3
5 intermediate filament cytoskeleton organization GO:0045104 9.43 DSP DST TOR1A
6 hemidesmosome assembly GO:0031581 9.13 COL17A1 LAMA3 PLEC
7 peptide cross-linking GO:0018149 8.92 DSP EVPL TGM2 TGM3

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 cytoskeletal protein binding GO:0008092 9.13 DST PLEC TOR1A
2 protein-glutamine gamma-glutamyltransferase activity GO:0003810 8.62 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
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