mixed connective tissue disease

Summary
Synonym
  • Connective tissue disease overlap syndrome
  • mixed collagen vascular disease
Definition
A collagen disease that is considered an overlap of three diseases, systemic lupus erythematosus, scleroderma, and polymyositis with very high titers of circulating antinuclear antibody to a ribonucleoprotein antigen.
Super Class
autoimmune disease of musculoskeletal system collagen disease
Disease Ontology
DOID:3492
Mondo Disease Ontology
MeSH
UMLS
NCI Thesaurus
GARD
Related Genes
Displaying all 7 entries
Gene ID Gene Symbol Description Source
355 FAS Fas cell surface death receptor
2200 FBN1 fibrillin 1
3123 HLA-DRB1 major histocompatibility complex, class II, DR beta 1
3458 IFNG interferon gamma
6628 SNRPB small nuclear ribonucleoprotein polypeptides B and B1
6631 SNRPC small nuclear ribonucleoprotein polypeptide C
7124 TNF tumor necrosis factor
Displaying all 5 entries
Gene ID Gene Symbol Description Source
14102 Fas Fas cell surface death receptor
14118 Fbn1 fibrillin 1
14969 H2-Eb1 histocompatibility 2, class II antigen E beta
15978 Ifng interferon gamma
21926 Tnf tumor necrosis factor
Displaying all 3 entries
Gene ID Gene Symbol Description Source
24835 Tnf tumor necrosis factor
25712 Ifng interferon gamma
246097 Fas Fas cell surface death receptor
Displaying 1 entry
Gene ID Gene Symbol Description Source
176076 fbn-1 EGF-like domain-containing protein

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Acknowledgements

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Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: December 9, 2024