MCID: HML035
MIFTS: 22

Hemolytic Uremic Syndrome, Atypical 2

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

Aliases & Classifications for Hemolytic Uremic Syndrome, Atypical 2

MalaCards integrated aliases for Hemolytic Uremic Syndrome, Atypical 2:

Name: Hemolytic Uremic Syndrome, Atypical 2 57
Hemolytic Uremic Syndrome, Atypical, Susceptibility to, 2 57 13
Atypical Hemolytic-Uremic Syndrome 2 29 6
Ahus2 57 75
Hemolytic-Uremic Syndrome Without Diarrhea with Mcp/cd46 Anomaly 59
Atypical Hemolytic-Uremic Syndrome with Mcp/cd46 Anomaly 59
Atypical Hemolytic Uremic with Mcp or Cd46 Anomaly 75
Hemolytic-Uremic Syndrome, Atypical, Type 2 40
Hemolytic Uremic Syndrome Atypical 2 75
Atypical Hus with Mcp/cd46 Anomaly 59
D-Hus with Mcp/cd46 Anomaly 59
Ahus, Susceptibility to, 2 57
Ahus with Mcp/cd46 Anomaly 59
Ahus 2 57

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive
autosomal dominant

Miscellaneous:
variable age of onset (childhood to adulthood)
recurrence is possible
overall course less severe compared to patients with cfh mutations


HPO:

32
hemolytic uremic syndrome, atypical 2:
Inheritance autosomal recessive inheritance autosomal dominant inheritance


Classifications:



Summaries for Hemolytic Uremic Syndrome, Atypical 2

UniProtKB/Swiss-Prot : 75 Hemolytic uremic syndrome atypical 2: 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 2, is also known as hemolytic uremic syndrome, atypical, susceptibility to, 2. An important gene associated with Hemolytic Uremic Syndrome, Atypical 2 is CD46 (CD46 Molecule). Affiliated tissues include kidney, and related phenotypes are proteinuria and hematuria

Description from OMIM: 612922

Related Diseases for Hemolytic Uremic Syndrome, Atypical 2

Symptoms & Phenotypes for Hemolytic Uremic Syndrome, Atypical 2

Symptoms via clinical synopsis from OMIM:

57
Genitourinary Kidneys:
proteinuria
hematuria
acute renal failure
anuria

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

612922

Human phenotypes related to Hemolytic Uremic Syndrome, Atypical 2:

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 2

Search Clinical Trials , NIH Clinical Center for Hemolytic Uremic Syndrome, Atypical 2

Genetic Tests for Hemolytic Uremic Syndrome, Atypical 2

Genetic tests related to Hemolytic Uremic Syndrome, Atypical 2:

# Genetic test Affiliating Genes
1 Atypical Hemolytic-Uremic Syndrome 2 29 CD46

Anatomical Context for Hemolytic Uremic Syndrome, Atypical 2

MalaCards organs/tissues related to Hemolytic Uremic Syndrome, Atypical 2:

41
Kidney

Publications for Hemolytic Uremic Syndrome, Atypical 2

Variations for Hemolytic Uremic Syndrome, Atypical 2

UniProtKB/Swiss-Prot genetic disease variations for Hemolytic Uremic Syndrome, Atypical 2:

75
# Symbol AA change Variation ID SNP ID
1 CD46 p.Pro165Ser VAR_026569 rs759136081
2 CD46 p.Ser240Pro VAR_026570 rs121909589
3 CD46 p.Cys35Tyr VAR_063656 rs121909591
4 CD46 p.Trp216Cys VAR_063657
5 CD46 p.Pro231Arg VAR_063658

ClinVar genetic disease variations for Hemolytic Uremic Syndrome, Atypical 2:

6
(show all 17)
# Gene Variation Type Significance SNP ID Assembly Location
1 CD46 CD46, 2-BP DEL, 843AC deletion risk factor
2 CD46 CD46, 6-BP DEL deletion risk factor
3 CD46 NM_002389.4(CD46): c.718T> C (p.Ser240Pro) single nucleotide variant risk factor rs121909589 GRCh37 Chromosome 1, 207940402: 207940402
4 CD46 NM_002389.4(CD46): c.718T> C (p.Ser240Pro) single nucleotide variant risk factor rs121909589 GRCh38 Chromosome 1, 207767057: 207767057
5 CD46 CD46, IVS1AS, G-C, -1 single nucleotide variant risk factor
6 CD46 NM_002389.4(CD46): c.175C> T (p.Arg59Ter) single nucleotide variant risk factor rs121909590 GRCh37 Chromosome 1, 207930436: 207930436
7 CD46 NM_002389.4(CD46): c.175C> T (p.Arg59Ter) single nucleotide variant risk factor rs121909590 GRCh38 Chromosome 1, 207757091: 207757091
8 CD46 NM_002389.4(CD46): c.104G> A (p.Cys35Tyr) single nucleotide variant risk factor rs121909591 GRCh37 Chromosome 1, 207930365: 207930365
9 CD46 NM_002389.4(CD46): c.104G> A (p.Cys35Tyr) single nucleotide variant risk factor rs121909591 GRCh38 Chromosome 1, 207757020: 207757020
10 CD46 NM_002389.4(CD46): c.776delG (p.Gly259Valfs) deletion Pathogenic rs886039868 GRCh37 Chromosome 1, 207940460: 207940460
11 CD46 NM_002389.4(CD46): c.776delG (p.Gly259Valfs) deletion Pathogenic rs886039868 GRCh38 Chromosome 1, 207767115: 207767115
12 CD46 NM_002389.4(CD46): c.542_543delTT (p.Phe181Terfs) deletion Pathogenic rs1057516191 GRCh38 Chromosome 1, 207761315: 207761316
13 CD46 NM_002389.4(CD46): c.542_543delTT (p.Phe181Terfs) deletion Pathogenic rs1057516191 GRCh37 Chromosome 1, 207934660: 207934661
14 CD46 NM_002389.4(CD46): c.685C> T (p.Arg229Ter) single nucleotide variant Likely pathogenic GRCh37 Chromosome 1, 207940369: 207940369
15 CD46 NM_002389.4(CD46): c.685C> T (p.Arg229Ter) single nucleotide variant Likely pathogenic GRCh38 Chromosome 1, 207767024: 207767024
16 CD46 NM_002389.4(CD46): c.417A> G (p.Leu139=) single nucleotide variant Benign rs12126088 GRCh37 Chromosome 1, 207933011: 207933011
17 CD46 NM_002389.4(CD46): c.417A> G (p.Leu139=) single nucleotide variant Benign rs12126088 GRCh38 Chromosome 1, 207759666: 207759666

Expression for Hemolytic Uremic Syndrome, Atypical 2

Search GEO for disease gene expression data for Hemolytic Uremic Syndrome, Atypical 2.

Pathways for Hemolytic Uremic Syndrome, Atypical 2

GO Terms for Hemolytic Uremic Syndrome, Atypical 2

Sources for Hemolytic Uremic Syndrome, Atypical 2

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74 UMLS via Orphanet
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