MCID: ATY044
MIFTS: 10

Atypical Hemolytic Uremic Syndrome with Thrombomodulin Anomaly

Categories: Blood diseases, Nephrological diseases, Rare diseases

Aliases & Classifications for Atypical Hemolytic Uremic Syndrome with Thrombomodulin Anomaly

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

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

Characteristics:

Orphanet epidemiological data:

59
atypical hemolytic uremic syndrome with thrombomodulin anomaly
Inheritance: Autosomal recessive; Age of onset: Childhood;

Classifications:



External Ids:

Orphanet 59 ORPHA217023

Summaries for Atypical Hemolytic Uremic Syndrome with Thrombomodulin Anomaly

MalaCards based summary : Atypical Hemolytic Uremic Syndrome with Thrombomodulin Anomaly, also known as hemolytic uremic syndrome without diarrhea with thrombomodulin anomaly, is related to hemolytic uremic syndrome, atypical 6. An important gene associated with Atypical Hemolytic Uremic Syndrome with Thrombomodulin Anomaly is THBD (Thrombomodulin).

Related Diseases for Atypical Hemolytic Uremic Syndrome with Thrombomodulin Anomaly

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

# Related Disease Score Top Affiliating Genes
1 hemolytic uremic syndrome, atypical 6 11.8

Symptoms & Phenotypes for Atypical Hemolytic Uremic Syndrome with Thrombomodulin Anomaly

Drugs & Therapeutics for Atypical Hemolytic Uremic Syndrome with Thrombomodulin Anomaly

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

Genetic Tests for Atypical Hemolytic Uremic Syndrome with Thrombomodulin Anomaly

Anatomical Context for Atypical Hemolytic Uremic Syndrome with Thrombomodulin Anomaly

Publications for Atypical Hemolytic Uremic Syndrome with Thrombomodulin Anomaly

Variations for Atypical Hemolytic Uremic Syndrome with Thrombomodulin Anomaly

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

6
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 THBD NM_000361.2(THBD): c.158A> G (p.Asp53Gly) single nucleotide variant risk factor rs121918667 20:23029984-23029984 20:23049347-23049347
2 THBD NM_000361.2(THBD): c.1483C> T (p.Pro495Ser) single nucleotide variant risk factor rs1800578 20:23028659-23028659 20:23048022-23048022
3 THBD NM_000361.2(THBD): c.683C> T (p.Pro228Leu) single nucleotide variant Uncertain significance 20:23029459-23029459 20:23048822-23048822
4 THBD NM_000361.2(THBD): c.1712C> T (p.Thr571Met) single nucleotide variant Uncertain significance rs1166732867 20:23028430-23028430 20:23047793-23047793
5 THBD NM_000361.2(THBD): c.127G> A (p.Ala43Thr) single nucleotide variant Likely benign rs1800576 20:23030015-23030015 20:23049378-23049378

Expression for Atypical Hemolytic Uremic Syndrome with Thrombomodulin Anomaly

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

Pathways for Atypical Hemolytic Uremic Syndrome with Thrombomodulin Anomaly

GO Terms for Atypical Hemolytic Uremic Syndrome with Thrombomodulin Anomaly

Sources for Atypical Hemolytic Uremic Syndrome with Thrombomodulin 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
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44 MeSH
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49 NCI
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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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