AHUS5
MCID: HML037
MIFTS: 23

Hemolytic Uremic Syndrome, Atypical 5 (AHUS5)

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

Aliases & Classifications for Hemolytic Uremic Syndrome, Atypical 5

MalaCards integrated aliases for Hemolytic Uremic Syndrome, Atypical 5:

Name: Hemolytic Uremic Syndrome, Atypical 5 56
Hemolytic Uremic Syndrome, Atypical, Susceptibility to, 5 56 13
Atypical Hemolytic-Uremic Syndrome 5 29 6
Ahus5 56 73
Atypical Hemolytic Uremic Syndrome with C3 Anomaly 73
Hemolytic-Uremic Syndrome, Atypical, Type 5 39
Hemolytic Uremic Syndrome Atypical 5 73
Ahus, Susceptibility to, 5 56
Ahus 5 56

Characteristics:

OMIM:

56
Inheritance:
autosomal dominant

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


HPO:

31
hemolytic uremic syndrome, atypical 5:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Hemolytic Uremic Syndrome, Atypical 5

UniProtKB/Swiss-Prot : 73 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, also known as hemolytic uremic syndrome, atypical, susceptibility to, 5, is related to obsolete: atypical hemolytic uremic syndrome with c3 anomaly. 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

More information from OMIM: 612925 PS235400

Related Diseases for Hemolytic Uremic Syndrome, Atypical 5

Diseases in the Hemolytic Uremic Syndrome, Atypical 1 family:

Hemolytic Uremic Syndrome, Atypical 2 Hemolytic Uremic Syndrome, Atypical 3
Hemolytic Uremic Syndrome, Atypical 4 Hemolytic Uremic Syndrome, Atypical 5
Hemolytic Uremic Syndrome, Atypical 6

Diseases related to Hemolytic Uremic Syndrome, Atypical 5 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 obsolete: atypical hemolytic uremic syndrome with c3 anomaly 12.8

Symptoms & Phenotypes for Hemolytic Uremic Syndrome, Atypical 5

Human phenotypes related to Hemolytic Uremic Syndrome, Atypical 5:

31 (show all 10)
# Description HPO Frequency HPO Source Accession
1 hypertension 31 frequent (33%) HP:0000822
2 proteinuria 31 HP:0000093
3 hematuria 31 HP:0000790
4 thrombocytopenia 31 HP:0001873
5 elevated serum creatinine 31 HP:0003259
6 acute kidney injury 31 HP:0001919
7 microangiopathic hemolytic anemia 31 HP:0001937
8 hemolytic-uremic syndrome 31 HP:0005575
9 increased blood urea nitrogen 31 HP:0003138
10 anuria 31 HP:0100519

Symptoms via clinical synopsis from OMIM:

56
Genitourinary Kidneys:
proteinuria
hematuria
anuria
acute renal failure

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

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:

40
Kidney

Publications for Hemolytic Uremic Syndrome, Atypical 5

Articles related to Hemolytic Uremic Syndrome, Atypical 5:

# Title Authors PMID Year
1
Mutations in complement C3 predispose to development of atypical hemolytic uremic syndrome. 56 6
18796626 2008
2
Clinical practice guidelines for the management of atypical haemolytic uraemic syndrome in the United Kingdom. 6
19821824 2010
3
Atypical hemolytic-uremic syndrome. 6
19846853 2009
4
Genetic Atypical Hemolytic-Uremic Syndrome 6
20301541 2007

Variations for Hemolytic Uremic Syndrome, Atypical 5

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

6 ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 C3 NM_000064.4(C3):c.640C>T (p.Pro214Ser)SNV Likely pathogenic 202203 rs794729228 19:6714219-6714219 19:6714208-6714208
2 C3 NM_000064.4(C3):c.1775G>A (p.Arg592Gln)SNV risk factor 17060 rs121909583 19:6709765-6709765 19:6709754-6709754
3 C3 NM_000064.4(C3):c.3281C>T (p.Ala1094Val)SNV risk factor 17061 rs121909584 19:6693044-6693044 19:6693033-6693033
4 C3 NM_000064.4(C3):c.3343G>A (p.Asp1115Asn)SNV risk factor 17062 rs121909585 19:6692982-6692982 19:6692971-6692971
5 C3 NM_000064.4(C3):c.2562C>G (p.Tyr854Ter)SNV risk factor 17063 rs121909586 19:6697684-6697684 19:6697673-6697673
6 C3 NM_000064.4(C3):c.3908G>A (p.Arg1303His)SNV Likely pathogenic 522408 rs775015499 19:6685060-6685060 19:6685049-6685049
7 C3 NM_000064.4(C3):c.2951-5_2951-3delshort repeat Conflicting interpretations of pathogenicity 625901 19:6694648-6694650 19:6694637-6694639
8 C3 NM_000064.4(C3):c.463A>C (p.Lys155Gln)SNV Conflicting interpretations of pathogenicity 92162 rs147859257 19:6718146-6718146 19:6718135-6718135
9 C3 NM_000064.4(C3):c.1407G>C (p.Glu469Asp)SNV Conflicting interpretations of pathogenicity 330325 rs11569422 19:6711070-6711070 19:6711059-6711059
10 C3 NM_000064.4(C3):c.769G>A (p.Ala257Thr)SNV Uncertain significance 599116 rs200918899 19:6714007-6714007 19:6713996-6713996

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

73
# 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

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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
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43 MeSH
44 MESH via Orphanet
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48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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