systemic scleroderma

Summary
Synonym
  • Scleroderma
  • Scleroderma syndrome
  • progressive systemic sclerosis
  • systemic sclerosis
Definition
A scleroderma that is characterized by fibrosis (or hardening) of the skin and major organs, as well as vascular alterations, and autoantibodies.
Super Class
scleroderma
Disease Ontology
DOID:418
Mondo Disease Ontology
MeSH
UMLS
NCI Thesaurus
GARD
MGI genotype (from TogoID)
Related Genes
Displaying entries 1 - 10 of 17 in total
Gene ID Gene Symbol Description Source
10 NAT2 N-acetyltransferase 2
308 ANXA5 annexin A5
942 CD86 CD86 molecule
2006 ELN elastin
2099 ESR1 estrogen receptor 1
2200 FBN1 fibrillin 1
3082 HGF hepatocyte growth factor
3117 HLA-DQA1 major histocompatibility complex, class II, DQ alpha 1
3458 IFNG interferon gamma
3554 IL1R1 interleukin 1 receptor type 1
Displaying all 4 entries
Gene ID Gene Symbol Description Source
12825 Col3a1 collagen, type III, alpha 1
14118 Fbn1 fibrillin 1
14284 Fosl2 fos-like antigen 2
21812 Tgfbr1 transforming growth factor, beta receptor I

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

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


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Last updated: April 7, 2025