eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| atypical hemolytic uremic syndrome | ||||
| Disease ID | 1911 |
|---|---|
| Disease | atypical hemolytic uremic syndrome |
| Definition | An hereditary hemolytic uremic syndrome associated with variations in the gene that encodes COMPLEMENT FACTOR H, or the related proteins CFHR1 and CFHR3. Disease often progresses to CHRONIC KIDNEY FAILURE without the prodromal symptoms of ENTEROCOLITIS and DIARRHEA that characterize typical hemolytic uremic syndrome. |
| Synonym | atypical hemolytic uremic syndrome [disease/finding] atypical hemolytic-uremic syndrome atypical hemolytic-uremic syndromes hemolytic uremic syndrome, atypical hemolytic-uremic syndrome, atypical hemolytic-uremic syndromes, atypical hus, non-shiga-like toxin-associated hus, nonenteropathic huss, non-shiga-like toxin-associated huss, nonenteropathic non shiga like toxin associated hus non stx hus non-diarrhea-associated hemolytic uremic syndrome non-shiga-like toxin-associated hus non-shiga-like toxin-associated huss non-stx-hus nonenteropathic hus nonenteropathic huss syndrome, atypical hemolytic-uremic syndromes, atypical hemolytic-uremic toxin-associated hus, non-shiga-like toxin-associated huss, non-shiga-like |
| Orphanet | |
| UMLS | C2931788 |
| MeSH | |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:11) C0006017 | pertussis | 1 C0155765 | microangiopathy | 1 C0017662 | membranoproliferative glomerulonephritis | 1 C0042769 | viral infection | 1 C0017658 | glomerulonephritis | 1 C0035078 | kidney failure | 1 C1136085 | monoclonal gammopathy | 1 C0235618 | proliferative glomerulonephritis | 1 C0006017 | bordetella pertussis | 1 C0040034 | thrombocytopenia | 1 C0021400 | influenza | 1 |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:9) |
| Inferring Gene | Entrez_id | Symbol | Resource(Total Genes:13) 722 | C4BPA | CIPHER 4179 | CD46 | CIPHER;CTD_human 3075 | CFH | CIPHER;CTD_human 3078 | CFHR1 | CIPHER;CTD_human 3080 | CFHR2 | CIPHER 10878 | CFHR3 | CIPHER;CTD_human 10877 | CFHR4 | CIPHER 81494 | CFHR5 | CIPHER 3426 | CFI | CIPHER;CTD_human 7056 | THBD | CTD_human 8526 | DGKE | CTD_human 718 | C3 | CTD_human 629 | CFB | CTD_human |
| Text Mined Gene | (Waiting for update.) |
| Locus | (Waiting for update.) |
| Disease ID | 1911 |
|---|---|
| Disease | atypical hemolytic uremic syndrome |
| Integrated Phenotype | (Waiting for update.) |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:5) |
| Disease ID | 1911 |
|---|---|
| Disease | atypical hemolytic uremic syndrome |
| Manually Symptom | (Waiting for update.) |
| Text Mined Symptom | (Waiting for update.) |
Manually Genotype(Total Text Mining Genotypes:0) |
|---|
| (Waiting for update.) |
Text Mining Genotype(Total Genotypes:0) | |
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| (Waiting for update.) | |
All Snps(Total Genotypes:4) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs121913059 | 18235085 | 3075 | CFH | umls:C2931788 | BeFree | The complement factor H R1210C mutation is associated with atypical hemolytic uremic syndrome. | 0.231606809 | 2008 | CFH | 1 | 196747245 | C | T |
| rs149474608 | 25733390 | 3075 | CFH | umls:C2931788 | BeFree | Functional characterization of two novel non-synonymous alterations in CD46 and a Q950H change in factor H found in atypical hemolytic uremic syndrome patients. | 0.231606809 | 2015 | CFH | 1 | 196740686 | G | A,T |
| rs45574833 | 18424762 | 722 | C4BPA | umls:C2931788 | BeFree | In this study, we report the first functional non-synonymous polymorphism in the complement inhibitor C4b-binding protein (C4BP) alpha-chain (c.719G>A; p.Arg240His), which is associated with aHUS. | 0.002638474 | 2008 | C4BPA | 1 | 207126725 | G | A |
| rs460897 | 19856002 | 3075 | CFH | umls:C2931788 | BeFree | Renal transplantation in patients with the S1191L mutation of the CFH gene carries a high risk of failure due to recurrence of aHUS in the renal graft. | 0.231606809 | 2010 | CFH | 1 | 196747189 | C | T |
GWASdb Annotation(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
GWASdb Snp Trait(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
Mapped by lexical matching(Total Items:0) |
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| (Waiting for update.) |
Mapped by homologous gene(Total Items:0) |
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| (Waiting for update.) |
| Disease ID | 1911 |
|---|---|
| Disease | atypical hemolytic uremic syndrome |
| Case | (Waiting for update.) |