atypical hemolytic-uremic syndrome

Summary
Definition
A complement deficiency that is characterized by mechanical hemolytic anemia, thrombocytopenia, and renal dysfunction.
Super Class
complement deficiency
Disease Ontology
DOID:0080301
Mondo Disease Ontology
MeSH
ORDO
GARD
MGI genotype (from TogoID)
Related Genes
Displaying all 9 entries
Gene ID Gene Symbol Description Source
629 CFB complement factor B
718 C3 complement C3
3075 CFH complement factor H
3078 CFHR1 complement factor H related 1
3426 CFI complement factor I
4179 CD46 CD46 molecule
7056 THBD thrombomodulin
10878 CFHR3 complement factor H related 3
11093 ADAMTS13 ADAM metallopeptidase with thrombospondin type 1 motif 13
Displaying all 10 entries
Gene ID Gene Symbol Description Source
12266 C3 complement component 3
12628 Cfh complement component factor h
12630 Cfi complement component factor i
14962 Cfb complement factor B
17221 Cd46 CD46 antigen, complement regulatory protein
21824 Thbd thrombomodulin
50702 Cfhr1 complement factor H-related 1
214403 Cfhr4 complement factor H-related 4
279028 Adamts13 ADAM metallopeptidase with thrombospondin type 1 motif 13
545366 Cfhr2 complement factor H-related 2
Displaying all 3 entries
Gene ID Gene Symbol Description Source
24232 C3 complement C3
29333 Cd46 CD46 molecule
79126 Cfi complement factor I
Displaying all 2 entries
Gene ID Gene Symbol Description Source
180836 W01C8.5 DM13 domain-containing protein
185381 cfh-1 Sushi domain-containing protein

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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: December 9, 2024