MCID: HML037
MIFTS: 22

Hemolytic Uremic Syndrome, Atypical 5

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

Aliases & Classifications for Hemolytic Uremic Syndrome, Atypical 5

MalaCards integrated aliases for Hemolytic Uremic Syndrome, Atypical 5:

Name: Hemolytic Uremic Syndrome, Atypical 5 57
Hemolytic Uremic Syndrome, Atypical, Susceptibility to, 5 57 13
Atypical Hemolytic-Uremic Syndrome 5 29 6
Ahus5 57 75
Hemolytic-Uremic Syndrome Without Diarrhea with C3 Anomaly 59
Atypical Hemolytic-Uremic Syndrome with C3 Anomaly 59
Atypical Hemolytic Uremic Syndrome with C3 Anomaly 75
Hemolytic-Uremic Syndrome, Atypical, Type 5 40
Hemolytic Uremic Syndrome Atypical 5 75
Atypical Hus with C3 Anomaly 59
Ahus, Susceptibility to, 5 57
D-Hus with C3 Anomaly 59
Ahus with C3 Anomaly 59
Ahus 5 57

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

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


HPO:

32
hemolytic uremic syndrome, atypical 5:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Hemolytic Uremic Syndrome, Atypical 5

UniProtKB/Swiss-Prot : 75 Hemolytic uremic syndrome atypical 5: 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 5, is also known as hemolytic uremic syndrome, atypical, susceptibility to, 5. An important gene associated with Hemolytic Uremic Syndrome, Atypical 5 is C3 (Complement C3). Affiliated tissues include kidney, and related phenotypes are hypertension and proteinuria

Description from OMIM: 612925

Related Diseases for Hemolytic Uremic Syndrome, Atypical 5

Symptoms & Phenotypes for Hemolytic Uremic Syndrome, Atypical 5

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:

612925

Human phenotypes related to Hemolytic Uremic Syndrome, Atypical 5:

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

Drugs & Therapeutics for Hemolytic Uremic Syndrome, Atypical 5

Search Clinical Trials , NIH Clinical Center for Hemolytic Uremic Syndrome, Atypical 5

Genetic Tests for Hemolytic Uremic Syndrome, Atypical 5

Genetic tests related to Hemolytic Uremic Syndrome, Atypical 5:

# Genetic test Affiliating Genes
1 Atypical Hemolytic-Uremic Syndrome 5 29 C3

Anatomical Context for Hemolytic Uremic Syndrome, Atypical 5

MalaCards organs/tissues related to Hemolytic Uremic Syndrome, Atypical 5:

41
Kidney

Publications for Hemolytic Uremic Syndrome, Atypical 5

Variations for Hemolytic Uremic Syndrome, Atypical 5

UniProtKB/Swiss-Prot genetic disease variations for Hemolytic Uremic Syndrome, Atypical 5:

75
# Symbol AA change Variation ID SNP ID
1 C3 p.Arg592Gln VAR_063213 rs121909583
2 C3 p.Arg592Trp VAR_063214 rs771353792
3 C3 p.Arg735Trp VAR_063215 rs117793540
4 C3 p.Ala1094Val VAR_063216 rs121909584
5 C3 p.Asp1115Asn VAR_063217 rs121909585
6 C3 p.Cys1158Trp VAR_063218
7 C3 p.Gln1161Lys VAR_063219
8 C3 p.His1464Asp VAR_063220
9 C3 p.Phe603Val VAR_063654
10 C3 p.Arg1042Leu VAR_063655

ClinVar genetic disease variations for Hemolytic Uremic Syndrome, Atypical 5:

6
(show all 12)
# Gene Variation Type Significance SNP ID Assembly Location
1 C3 NM_000064.3(C3): c.1775G> A (p.Arg592Gln) single nucleotide variant risk factor rs121909583 GRCh37 Chromosome 19, 6709765: 6709765
2 C3 NM_000064.3(C3): c.1775G> A (p.Arg592Gln) single nucleotide variant risk factor rs121909583 GRCh38 Chromosome 19, 6709754: 6709754
3 C3 NM_000064.3(C3): c.3281C> T (p.Ala1094Val) single nucleotide variant risk factor rs121909584 GRCh37 Chromosome 19, 6693044: 6693044
4 C3 NM_000064.3(C3): c.3281C> T (p.Ala1094Val) single nucleotide variant risk factor rs121909584 GRCh38 Chromosome 19, 6693033: 6693033
5 C3 NM_000064.3(C3): c.3343G> A (p.Asp1115Asn) single nucleotide variant risk factor rs121909585 GRCh37 Chromosome 19, 6692982: 6692982
6 C3 NM_000064.3(C3): c.3343G> A (p.Asp1115Asn) single nucleotide variant risk factor rs121909585 GRCh38 Chromosome 19, 6692971: 6692971
7 C3 NM_000064.3(C3): c.2562C> G (p.Tyr854Ter) single nucleotide variant risk factor rs121909586 GRCh37 Chromosome 19, 6697684: 6697684
8 C3 NM_000064.3(C3): c.2562C> G (p.Tyr854Ter) single nucleotide variant risk factor rs121909586 GRCh38 Chromosome 19, 6697673: 6697673
9 C3 NM_000064.3(C3): c.640C> T (p.Pro214Ser) single nucleotide variant Likely pathogenic rs794729228 GRCh37 Chromosome 19, 6714219: 6714219
10 C3 NM_000064.3(C3): c.640C> T (p.Pro214Ser) single nucleotide variant Likely pathogenic rs794729228 GRCh38 Chromosome 19, 6714208: 6714208
11 C3 NM_000064.3(C3): c.3908G> A (p.Arg1303His) single nucleotide variant Likely pathogenic rs775015499 GRCh38 Chromosome 19, 6685049: 6685049
12 C3 NM_000064.3(C3): c.3908G> A (p.Arg1303His) single nucleotide variant Likely pathogenic rs775015499 GRCh37 Chromosome 19, 6685060: 6685060

Expression for Hemolytic Uremic Syndrome, Atypical 5

Search GEO for disease gene expression data for Hemolytic Uremic Syndrome, Atypical 5.

Pathways for Hemolytic Uremic Syndrome, Atypical 5

GO Terms for Hemolytic Uremic Syndrome, Atypical 5

Sources for Hemolytic Uremic Syndrome, Atypical 5

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74 UMLS via Orphanet
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