MCID: ATY050
MIFTS: 9

Atypical Hemolytic Uremic Syndrome with Mcp/cd46 Anomaly

Categories: Blood diseases, Nephrological diseases, Rare diseases

Aliases & Classifications for Atypical Hemolytic Uremic Syndrome with Mcp/cd46 Anomaly

MalaCards integrated aliases for Atypical Hemolytic Uremic Syndrome with Mcp/cd46 Anomaly:

Name: Atypical Hemolytic Uremic Syndrome with Mcp/cd46 Anomaly 59
Hemolytic Uremic Syndrome Without Diarrhea with Mcp/cd46 Anomaly 59
Atypical Hus with Mcp/cd46 Anomaly 59
D- Hus with Mcp/cd46 Anomaly 59
Ahus with Mcp/cd46 Anomaly 59

Classifications:



External Ids:

Orphanet 59 ORPHA93576

Summaries for Atypical Hemolytic Uremic Syndrome with Mcp/cd46 Anomaly

MalaCards based summary : Atypical Hemolytic Uremic Syndrome with Mcp/cd46 Anomaly, is also known as hemolytic uremic syndrome without diarrhea with mcp/cd46 anomaly. An important gene associated with Atypical Hemolytic Uremic Syndrome with Mcp/cd46 Anomaly is CD46 (CD46 Molecule).

Related Diseases for Atypical Hemolytic Uremic Syndrome with Mcp/cd46 Anomaly

Symptoms & Phenotypes for Atypical Hemolytic Uremic Syndrome with Mcp/cd46 Anomaly

Drugs & Therapeutics for Atypical Hemolytic Uremic Syndrome with Mcp/cd46 Anomaly

Search Clinical Trials , NIH Clinical Center for Atypical Hemolytic Uremic Syndrome with Mcp/cd46 Anomaly

Genetic Tests for Atypical Hemolytic Uremic Syndrome with Mcp/cd46 Anomaly

Anatomical Context for Atypical Hemolytic Uremic Syndrome with Mcp/cd46 Anomaly

Publications for Atypical Hemolytic Uremic Syndrome with Mcp/cd46 Anomaly

Variations for Atypical Hemolytic Uremic Syndrome with Mcp/cd46 Anomaly

ClinVar genetic disease variations for Atypical Hemolytic Uremic Syndrome with Mcp/cd46 Anomaly:

6 (show all 12)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 CD46 NM_002389.4(CD46): c.542_543del (p.Val180_Phe181insTer) deletion Pathogenic rs1057516191 1:207934660-207934661 1:207761315-207761316
2 CD46 NM_002389.4(CD46): c.776del (p.Gly259fs) deletion Pathogenic rs886039868 1:207940460-207940460 1:207767115-207767115
3 CD46 NM_002389.4(CD46): c.404del (p.Gly135fs) deletion Pathogenic 1:207932998-207932998 1:207759653-207759653
4 CD46 NM_002389.4(CD46): c.604C> T (p.Leu202Phe) single nucleotide variant Likely pathogenic 1:207934722-207934722 1:207761377-207761377
5 CD46 NM_002389.4(CD46): c.685C> T (p.Arg229Ter) single nucleotide variant Likely pathogenic rs1553251787 1:207940369-207940369 1:207767024-207767024
6 CD46 CD46, 2-BP DEL, 843AC deletion risk factor
7 CD46 CD46, 6-BP DEL deletion risk factor
8 CD46 NM_002389.4(CD46): c.718T> C (p.Ser240Pro) single nucleotide variant risk factor rs121909589 1:207940402-207940402 1:207767057-207767057
9 CD46 CD46, IVS1AS, G-C, -1 single nucleotide variant risk factor
10 CD46 NM_002389.4(CD46): c.175C> T (p.Arg59Ter) single nucleotide variant risk factor rs121909590 1:207930436-207930436 1:207757091-207757091
11 CD46 NM_002389.4(CD46): c.104G> A (p.Cys35Tyr) single nucleotide variant risk factor rs121909591 1:207930365-207930365 1:207757020-207757020
12 CD46 NM_002389.4(CD46): c.417A> G (p.Leu139=) single nucleotide variant Benign rs12126088 1:207933011-207933011 1:207759666-207759666

Expression for Atypical Hemolytic Uremic Syndrome with Mcp/cd46 Anomaly

Search GEO for disease gene expression data for Atypical Hemolytic Uremic Syndrome with Mcp/cd46 Anomaly.

Pathways for Atypical Hemolytic Uremic Syndrome with Mcp/cd46 Anomaly

GO Terms for Atypical Hemolytic Uremic Syndrome with Mcp/cd46 Anomaly

Sources for Atypical Hemolytic Uremic Syndrome with Mcp/cd46 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
45 MESH via Orphanet
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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