MCID: ATY047
MIFTS: 9

Atypical Hemolytic Uremic Syndrome with B Factor Anomaly

Categories: Blood diseases, Nephrological diseases, Rare diseases

Aliases & Classifications for Atypical Hemolytic Uremic Syndrome with B Factor Anomaly

MalaCards integrated aliases for Atypical Hemolytic Uremic Syndrome with B Factor Anomaly:

Name: Atypical Hemolytic Uremic Syndrome with B Factor Anomaly 59
Hemolytic Uremic Syndrome Without Diarrhea with B Factor Anomaly 59
Atypical Hus with B Factor Anomaly 59
D- Hus with B Factor Anomaly 59
Ahus with B Factor Anomaly 59

Classifications:



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Summaries for Atypical Hemolytic Uremic Syndrome with B Factor Anomaly

MalaCards based summary : Atypical Hemolytic Uremic Syndrome with B Factor Anomaly, also known as hemolytic uremic syndrome without diarrhea with b factor anomaly, is related to hemolytic uremic syndrome, atypical 4. An important gene associated with Atypical Hemolytic Uremic Syndrome with B Factor Anomaly is CFB (Complement Factor B).

Related Diseases for Atypical Hemolytic Uremic Syndrome with B Factor Anomaly

Diseases in the Atypical Hemolytic Uremic Syndrome with B Factor Anomaly family:

Atypical Hemolytic Uremic Syndrome with H Factor Anomaly Atypical Hemolytic Uremic Syndrome with I Factor Anomaly

Diseases related to Atypical Hemolytic Uremic Syndrome with B Factor Anomaly via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 hemolytic uremic syndrome, atypical 4 11.8

Symptoms & Phenotypes for Atypical Hemolytic Uremic Syndrome with B Factor Anomaly

Drugs & Therapeutics for Atypical Hemolytic Uremic Syndrome with B Factor Anomaly

Search Clinical Trials , NIH Clinical Center for Atypical Hemolytic Uremic Syndrome with B Factor Anomaly

Genetic Tests for Atypical Hemolytic Uremic Syndrome with B Factor Anomaly

Anatomical Context for Atypical Hemolytic Uremic Syndrome with B Factor Anomaly

Publications for Atypical Hemolytic Uremic Syndrome with B Factor Anomaly

Variations for Atypical Hemolytic Uremic Syndrome with B Factor Anomaly

ClinVar genetic disease variations for Atypical Hemolytic Uremic Syndrome with B Factor Anomaly:

6
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 CFB NM_001710.5(CFB): c.858C> G (p.Phe286Leu) single nucleotide variant risk factor rs117905900 6:31915819-31915819 6:31948042-31948042
2 CFB NM_001710.5(CFB): c.967A> G (p.Lys323Glu) single nucleotide variant risk factor rs121909748 6:31916220-31916220 6:31948443-31948443
3 CFB NM_001710.5(CFB): c.1217G> A (p.Arg406Gln) single nucleotide variant Uncertain significance rs1057516209 6:31917068-31917068 6:31949291-31949291
4 CFB NM_001710.5(CFB): c.1861G> A (p.Glu621Lys) single nucleotide variant Uncertain significance rs573842877 6:31918926-31918926 6:31951149-31951149
5 CFB NM_001710.5(CFB): c.1407C> G (p.Ile469Met) single nucleotide variant Likely benign rs201798809 6:31917333-31917333 6:31949556-31949556

Expression for Atypical Hemolytic Uremic Syndrome with B Factor Anomaly

Search GEO for disease gene expression data for Atypical Hemolytic Uremic Syndrome with B Factor Anomaly.

Pathways for Atypical Hemolytic Uremic Syndrome with B Factor Anomaly

GO Terms for Atypical Hemolytic Uremic Syndrome with B Factor Anomaly

Sources for Atypical Hemolytic Uremic Syndrome with B Factor Anomaly

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 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
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44 MeSH
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46 MGI
49 NCI
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51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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