MCID: HML036
MIFTS: 22

Hemolytic Uremic Syndrome, Atypical 6

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

Aliases & Classifications for Hemolytic Uremic Syndrome, Atypical 6

MalaCards integrated aliases for Hemolytic Uremic Syndrome, Atypical 6:

Name: Hemolytic Uremic Syndrome, Atypical 6 57
Hemolytic Uremic Syndrome, Atypical, Susceptibility to, 6 57 13
Atypical Hemolytic-Uremic Syndrome 6 29 6
Ahus6 57 75
Hemolytic-Uremic Syndrome Without Diarrhea with Thrombomodulin Anomaly 59
Atypical Hemolytic-Uremic Syndrome with Thrombomodulin Anomaly 59
Atypical Hemolytic Uremic Syndrome with Thrombomodulin Anomaly 75
Hemolytic-Uremic Syndrome, Atypical, Type 6 40
Atypical Hus with Thrombomodulin Anomaly 59
Hemolytic Uremic Syndrome Atypical 6 75
D-Hus with Thrombomodulin Anomaly 59
Ahus with Thrombomodulin Anomaly 59
Ahus, Susceptibility to, 6 57
Ahus 6 57

Characteristics:

Orphanet epidemiological data:

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

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
recurrence is possible
variable age of onset (childhood to young adulthood)


HPO:

32
hemolytic uremic syndrome, atypical 6:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Hemolytic Uremic Syndrome, Atypical 6

UniProtKB/Swiss-Prot : 75 Hemolytic uremic syndrome atypical 6: An atypical form of hemolytic uremic syndrome. It is a complex genetic disease characterized by microangiopathic hemolytic anemia, thrombocytopenia, renal failure and absence of episodes of enterocolitis and diarrhea. In contrast to typical hemolytic uremic syndrome, atypical forms have a poorer prognosis, with higher death rates and frequent progression to end-stage renal disease.

MalaCards based summary : Hemolytic Uremic Syndrome, Atypical 6, is also known as hemolytic uremic syndrome, atypical, susceptibility to, 6. An important gene associated with Hemolytic Uremic Syndrome, Atypical 6 is THBD (Thrombomodulin). Affiliated tissues include kidney, and related phenotypes are proteinuria and hematuria

Description from OMIM: 612926

Related Diseases for Hemolytic Uremic Syndrome, Atypical 6

Symptoms & Phenotypes for Hemolytic Uremic Syndrome, Atypical 6

Symptoms via clinical synopsis from OMIM:

57
Genitourinary Kidneys:
proteinuria
hematuria
acute renal failure
anuria

Laboratory Abnormalities:
increased blood urea nitrogen (bun)
increased creatinine
decreased or normal serum c3

Cardiovascular Vascular:
hypertension (variable)

Hematology:
thrombocytopenia
microangiopathic hemolytic anemia
thrombotic microangiopathy
decreased hemoglobin
fragmented erythrocytes

Immunology:
defective complement regulation


Clinical features from OMIM:

612926

Human phenotypes related to Hemolytic Uremic Syndrome, Atypical 6:

32 (show all 10)
# Description HPO Frequency HPO Source Accession
1 proteinuria 32 HP:0000093
2 hematuria 32 HP:0000790
3 hypertension 32 frequent (33%) HP:0000822
4 thrombocytopenia 32 HP:0001873
5 acute kidney injury 32 HP:0001919
6 microangiopathic hemolytic anemia 32 HP:0001937
7 increased blood urea nitrogen 32 HP:0003138
8 elevated serum creatinine 32 HP:0003259
9 hemolytic-uremic syndrome 32 HP:0005575
10 anuria 32 HP:0100519

Drugs & Therapeutics for Hemolytic Uremic Syndrome, Atypical 6

Search Clinical Trials , NIH Clinical Center for Hemolytic Uremic Syndrome, Atypical 6

Genetic Tests for Hemolytic Uremic Syndrome, Atypical 6

Genetic tests related to Hemolytic Uremic Syndrome, Atypical 6:

# Genetic test Affiliating Genes
1 Atypical Hemolytic-Uremic Syndrome 6 29 THBD

Anatomical Context for Hemolytic Uremic Syndrome, Atypical 6

MalaCards organs/tissues related to Hemolytic Uremic Syndrome, Atypical 6:

41
Kidney

Publications for Hemolytic Uremic Syndrome, Atypical 6

Variations for Hemolytic Uremic Syndrome, Atypical 6

UniProtKB/Swiss-Prot genetic disease variations for Hemolytic Uremic Syndrome, Atypical 6:

75
# Symbol AA change Variation ID SNP ID
1 THBD p.Ala43Thr VAR_011368 rs1800576
2 THBD p.Asp486Tyr VAR_011371 rs41348347
3 THBD p.Pro495Ser VAR_011372 rs1800578
4 THBD p.Pro501Leu VAR_011373 rs1800579
5 THBD p.Asp53Gly VAR_063223 rs121918667
6 THBD p.Val81Leu VAR_063224
7 THBD p.Asp34Glu VAR_063673
8 THBD p.Ala236Gly VAR_063674 rs758686992

ClinVar genetic disease variations for Hemolytic Uremic Syndrome, Atypical 6:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 THBD NM_000361.2(THBD): c.158A> G (p.Asp53Gly) single nucleotide variant risk factor rs121918667 GRCh37 Chromosome 20, 23029984: 23029984
2 THBD NM_000361.2(THBD): c.158A> G (p.Asp53Gly) single nucleotide variant risk factor rs121918667 GRCh38 Chromosome 20, 23049347: 23049347
3 THBD NM_000361.2(THBD): c.1483C> T (p.Pro495Ser) single nucleotide variant risk factor rs1800578 GRCh37 Chromosome 20, 23028659: 23028659
4 THBD NM_000361.2(THBD): c.1483C> T (p.Pro495Ser) single nucleotide variant risk factor rs1800578 GRCh38 Chromosome 20, 23048022: 23048022
5 THBD NM_000361.2(THBD): c.1712C> T (p.Thr571Met) single nucleotide variant Uncertain significance GRCh37 Chromosome 20, 23028430: 23028430
6 THBD NM_000361.2(THBD): c.1712C> T (p.Thr571Met) single nucleotide variant Uncertain significance GRCh38 Chromosome 20, 23047793: 23047793

Expression for Hemolytic Uremic Syndrome, Atypical 6

Search GEO for disease gene expression data for Hemolytic Uremic Syndrome, Atypical 6.

Pathways for Hemolytic Uremic Syndrome, Atypical 6

GO Terms for Hemolytic Uremic Syndrome, Atypical 6

Sources for Hemolytic Uremic Syndrome, Atypical 6

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 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 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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