MCID: HML037
MIFTS: 28

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 54
Hemolytic-Uremic Syndrome Without Diarrhea with C3 Anomaly 56
Hemolytic Uremic Syndrome, Atypical, Susceptibility to, 5 13
Atypical Hemolytic-Uremic Syndrome with C3 Anomaly 56
Atypical Hemolytic Uremic Syndrome with C3 Anomaly 71
Hemolytic Uremic Syndrome Atypical 5 71
Atypical Hemolytic-Uremic Syndrome 5 29
Atypical Hus with C3 Anomaly 56
D-Hus with C3 Anomaly 56
Ahus with C3 Anomaly 56
Ahus5 71

Characteristics:

OMIM:

54
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 : 71 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 without diarrhea with c3 anomaly, and has symptoms including hemolytic-uremic syndrome, thrombocytopenia and hematuria. An important gene associated with Hemolytic Uremic Syndrome, Atypical 5 is C3 (Complement C3). The drugs Complement Inactivating Agents and Complement System Proteins have been mentioned in the context of this disorder. Affiliated tissues include kidney.

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:

54

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

Immunology:
defective complement regulation

Cardiovascular- Vascular:
hypertension (variable)

Genitourinary- Kidneys:
hematuria
proteinuria
acute renal failure
anuria

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


Clinical features from OMIM:

612925

Human phenotypes related to Hemolytic Uremic Syndrome, Atypical 5:

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

Drugs & Therapeutics for Hemolytic Uremic Syndrome, Atypical 5

Drugs for Hemolytic Uremic Syndrome, Atypical 5 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


id Name Status Phase Clinical Trials Cas Number PubChem Id
1 Complement Inactivating Agents Phase 3
2 Complement System Proteins Phase 3,Phase 2

Interventional clinical trials:


id Name Status NCT ID Phase Drugs
1 Study Assessing an Algorithm-based Strategy of Eculizumab Discontinuation in Children and Adults With aHUS Recruiting NCT02574403 Phase 4 eculizumab
2 Study of ALXN1210 in Children and Adolescents With Atypical Hemolytic Uremic Syndrome (aHUS) Recruiting NCT03131219 Phase 3
3 Single Arm Study of ALXN1210 in Complement Inhibitor Treatment-Naïve Adult and Adolescent Patients With Atypical Hemolytic Uremic Syndrome (aHUS) Recruiting NCT02949128 Phase 3
4 An Open-Label, Multi-Center Clinical Trial of Eculizumab in Pediatric Patients With Atypical Hemolytic-Uremic Syndrome Completed NCT01193348 Phase 2 Eculizumab
5 A Study of an Investigational Drug, Cemdisiran (ALN-CC5), in Patients With Atypical Hemolytic Uremic Syndrome Recruiting NCT03303313 Phase 2 Cemdisiran
6 Complement Inhibition in aHUS Dialysis Patients Terminated NCT02464891 Phase 2 CCX168
7 Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford Recruiting NCT01793168

Search 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:

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

Anatomical Context for Hemolytic Uremic Syndrome, Atypical 5

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

39
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:

71
id 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
id 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.3281C> T (p.Ala1094Val) single nucleotide variant risk factor rs121909584 GRCh37 Chromosome 19, 6693044: 6693044
3 C3 NM_000064.3(C3): c.3343G> A (p.Asp1115Asn) single nucleotide variant risk factor rs121909585 GRCh37 Chromosome 19, 6692982: 6692982
4 C3 NM_000064.3(C3): c.2562C> G (p.Tyr854Ter) single nucleotide variant risk factor rs121909586 GRCh37 Chromosome 19, 6697684: 6697684
5 C3 NM_000064.3(C3): c.640C> T (p.Pro214Ser) single nucleotide variant Likely pathogenic rs794729228 GRCh37 Chromosome 19, 6714219: 6714219

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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7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
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30 HGMD
31 HMDB
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33 ICD10
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37 KEGG
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52 Novoseek
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59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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