MCID: ATY049
MIFTS: 10

Atypical Hemolytic Uremic Syndrome with C3 Anomaly

Categories: Blood diseases, Genetic diseases, Immune diseases, Nephrological diseases, Rare diseases

Aliases & Classifications for Atypical Hemolytic Uremic Syndrome with C3 Anomaly

MalaCards integrated aliases for Atypical Hemolytic Uremic Syndrome with C3 Anomaly:

Name: Atypical Hemolytic Uremic Syndrome with C3 Anomaly 59
Hemolytic Uremic Syndrome Without Diarrhea with C3 Anomaly 59
Atypical Hus with C3 Anomaly 59
D- Hus with C3 Anomaly 59
Ahus with C3 Anomaly 59

Classifications:



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Summaries for Atypical Hemolytic Uremic Syndrome with C3 Anomaly

MalaCards based summary : Atypical Hemolytic Uremic Syndrome with C3 Anomaly, also known as hemolytic uremic syndrome without diarrhea with c3 anomaly, is related to hemolytic uremic syndrome, atypical 5. An important gene associated with Atypical Hemolytic Uremic Syndrome with C3 Anomaly is C3 (Complement C3).

Related Diseases for Atypical Hemolytic Uremic Syndrome with C3 Anomaly

Diseases in the Atypical Hemolytic Uremic Syndrome with C3 Anomaly family:

Hemolytic Uremic Syndrome, Atypical 1 Hemolytic Uremic Syndrome, Atypical 2
Hemolytic Uremic Syndrome, Atypical 3 Hemolytic Uremic Syndrome, Atypical 4
Hemolytic Uremic Syndrome, Atypical 5 Hemolytic Uremic Syndrome, Atypical 6

Diseases related to Atypical Hemolytic Uremic Syndrome with C3 Anomaly via text searches within MalaCards or GeneCards Suite gene sharing:

(showing 1, show less)
# Related Disease Score Top Affiliating Genes
1 hemolytic uremic syndrome, atypical 5 11.7

Symptoms & Phenotypes for Atypical Hemolytic Uremic Syndrome with C3 Anomaly

Drugs & Therapeutics for Atypical Hemolytic Uremic Syndrome with C3 Anomaly

Search Clinical Trials , NIH Clinical Center for Atypical Hemolytic Uremic Syndrome with C3 Anomaly

Genetic Tests for Atypical Hemolytic Uremic Syndrome with C3 Anomaly

Anatomical Context for Atypical Hemolytic Uremic Syndrome with C3 Anomaly

Publications for Atypical Hemolytic Uremic Syndrome with C3 Anomaly

Variations for Atypical Hemolytic Uremic Syndrome with C3 Anomaly

ClinVar genetic disease variations for Atypical Hemolytic Uremic Syndrome with C3 Anomaly:

6 (showing 9, show less)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 C3 NM_000064.4(C3): c.3908G> A (p.Arg1303His) single nucleotide variant Likely pathogenic rs775015499 19:6685060-6685060 19:6685049-6685049
2 C3 NM_000064.4(C3): c.1775G> A (p.Arg592Gln) single nucleotide variant risk factor rs121909583 19:6709765-6709765 19:6709754-6709754
3 C3 NM_000064.4(C3): c.3281C> T (p.Ala1094Val) single nucleotide variant risk factor rs121909584 19:6693044-6693044 19:6693033-6693033
4 C3 NM_000064.4(C3): c.3343G> A (p.Asp1115Asn) single nucleotide variant risk factor rs121909585 19:6692982-6692982 19:6692971-6692971
5 C3 NM_000064.4(C3): c.2562C> G (p.Tyr854Ter) single nucleotide variant risk factor rs121909586 19:6697684-6697684 19:6697673-6697673
6 C3 NM_000064.4(C3): c.640C> T (p.Pro214Ser) single nucleotide variant Likely pathogenic rs794729228 19:6714219-6714219 19:6714208-6714208
7 C3 NM_000064.4(C3): c.769G> A (p.Ala257Thr) single nucleotide variant Uncertain significance 19:6714007-6714007 19:6713996-6713996
8 C3 NM_000064.4(C3): c.2951-5_2951-3del short repeat Uncertain significance 19:6694652-6694654 19:6694638-6694640
9 C3 NM_000064.4(C3): c.463A> C (p.Lys155Gln) single nucleotide variant Uncertain significance rs147859257 19:6718146-6718146 19:6718135-6718135

Expression for Atypical Hemolytic Uremic Syndrome with C3 Anomaly

Search GEO for disease gene expression data for Atypical Hemolytic Uremic Syndrome with C3 Anomaly.

Pathways for Atypical Hemolytic Uremic Syndrome with C3 Anomaly

GO Terms for Atypical Hemolytic Uremic Syndrome with C3 Anomaly

Sources for Atypical Hemolytic Uremic Syndrome with C3 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
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
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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