AHUS5
MCID: HML037
MIFTS: 25

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, 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

More information from OMIM: 612925 PS235400

Related Diseases for Hemolytic Uremic Syndrome, Atypical 5

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 acute kidney injury 31 HP:0001919
6 elevated serum creatinine 31 HP:0003259
7 microangiopathic hemolytic anemia 31 HP:0001937
8 increased blood urea nitrogen 31 HP:0003138
9 anuria 31 HP:0100519
10 hemolytic-uremic syndrome 31 HP:0005575

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. 6 56
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 (show top 50) (show all 131) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 C3 NM_000064.4(C3):c.3908G>A (p.Arg1303His)SNV Likely pathogenic 522408 rs775015499 19:6685060-6685060 19:6685049-6685049
2 C3 NM_000064.4(C3):c.2531A>G (p.Gln844Arg)SNV Likely pathogenic 830025 19:6697715-6697715 19:6697704-6697704
3 C3 NM_000064.4(C3):c.1775G>A (p.Arg592Gln)SNV risk factor 17060 rs121909583 19:6709765-6709765 19:6709754-6709754
4 C3 NM_000064.4(C3):c.3281C>T (p.Ala1094Val)SNV risk factor 17061 rs121909584 19:6693044-6693044 19:6693033-6693033
5 C3 NM_000064.4(C3):c.3343G>A (p.Asp1115Asn)SNV risk factor 17062 rs121909585 19:6692982-6692982 19:6692971-6692971
6 C3 NM_000064.4(C3):c.2562C>G (p.Tyr854Ter)SNV risk factor 17063 rs121909586 19:6697684-6697684 19:6697673-6697673
7 C3 NM_000064.4(C3):c.640C>T (p.Pro214Ser)SNV Likely pathogenic 202203 rs794729228 19:6714219-6714219 19:6714208-6714208
8 C3 NM_000064.4(C3):c.4941G>A (p.Gln1647=)SNV Conflicting interpretations of pathogenicity 330269 rs780251209 19:6677944-6677944 19:6677933-6677933
9 C3 NM_000064.4(C3):c.4767G>A (p.Lys1589=)SNV Conflicting interpretations of pathogenicity 330275 rs144589541 19:6678246-6678246 19:6678235-6678235
10 C3 NM_000064.4(C3):c.463A>C (p.Lys155Gln)SNV Conflicting interpretations of pathogenicity 92162 rs147859257 19:6718146-6718146 19:6718135-6718135
11 C3 NM_000064.4(C3):c.1685C>T (p.Ser562Leu)SNV Conflicting interpretations of pathogenicity 893675 19:6710651-6710651 19:6710640-6710640
12 C3 NM_000064.4(C3):c.1508C>T (p.Ala503Val)SNV Conflicting interpretations of pathogenicity 893948 19:6710828-6710828 19:6710817-6710817
13 C3 NM_000064.4(C3):c.2797-5C>TSNV Conflicting interpretations of pathogenicity 892763 19:6696675-6696675 19:6696664-6696664
14 C3 NM_000064.4(C3):c.1480-4C>ASNV Conflicting interpretations of pathogenicity 894349 19:6710860-6710860 19:6710849-6710849
15 C3 NM_000064.4(C3):c.4535G>A (p.Arg1512His)SNV Conflicting interpretations of pathogenicity 330281 rs142868256 19:6679429-6679429 19:6679418-6679418
16 C3 NM_000064.4(C3):c.4030-4C>TSNV Conflicting interpretations of pathogenicity 330288 rs372612816 19:6684665-6684665 19:6684654-6684654
17 C3 NM_000064.4(C3):c.2799G>A (p.Pro933=)SNV Conflicting interpretations of pathogenicity 330299 rs149209011 19:6696668-6696668 19:6696657-6696657
18 C3 NM_000064.4(C3):c.1819A>G (p.Lys607Glu)SNV Conflicting interpretations of pathogenicity 330318 rs140637006 19:6709721-6709721 19:6709710-6709710
19 C3 NM_000064.4(C3):c.4855A>C (p.Ser1619Arg)SNV Conflicting interpretations of pathogenicity 330271 rs2230210 19:6678030-6678030 19:6678019-6678019
20 C3 NM_000064.4(C3):c.4827C>T (p.Ser1609=)SNV Conflicting interpretations of pathogenicity 330273 rs150537373 19:6678186-6678186 19:6678175-6678175
21 C3 NM_000064.4(C3):c.2207G>A (p.Arg736Gln)SNV Conflicting interpretations of pathogenicity 892833 19:6707125-6707125 19:6707114-6707114
22 C3 NM_000064.4(C3):c.26T>C (p.Leu9Pro)SNV Conflicting interpretations of pathogenicity 872465 19:6720575-6720575 19:6720564-6720564
23 C3 NM_000064.4(C3):c.4471C>T (p.Arg1491Trp)SNV Conflicting interpretations of pathogenicity 893747 19:6679493-6679493 19:6679482-6679482
24 C3 NM_000064.4(C3):c.1296G>A (p.Ser432=)SNV Conflicting interpretations of pathogenicity 892903 19:6711181-6711181 19:6711170-6711170
25 C3 NM_000064.4(C3):c.1098A>G (p.Pro366=)SNV Conflicting interpretations of pathogenicity 894380 19:6712540-6712540 19:6712529-6712529
26 C3 NM_000064.4(C3):c.928G>A (p.Gly310Arg)SNV Conflicting interpretations of pathogenicity 892764 19:6713275-6713275 19:6713264-6713264
27 C3 NM_000064.4(C3):c.835G>A (p.Glu279Lys)SNV Conflicting interpretations of pathogenicity 892936 19:6713459-6713459 19:6713448-6713448
28 C3 NM_000064.4(C3):c.763A>G (p.Ile255Val)SNV Conflicting interpretations of pathogenicity 894016 19:6714013-6714013 19:6714002-6714002
29 C3 NM_000064.4(C3):c.48C>A (p.His16Gln)SNV Conflicting interpretations of pathogenicity 893206 19:6720553-6720553 19:6720542-6720542
30 C3 NM_000064.4(C3):c.2951-5_2951-3delshort repeat Conflicting interpretations of pathogenicity 625901 19:6694648-6694650 19:6694637-6694639
31 C3 NM_000064.4(C3):c.4148C>A (p.Thr1383Asn)SNV Conflicting interpretations of pathogenicity 633670 rs139100972 19:6684423-6684423 19:6684412-6684412
32 C3 NM_000064.4(C3):c.2583+9C>TSNV Conflicting interpretations of pathogenicity 719210 19:6697654-6697654 19:6697643-6697643
33 C3 NM_000064.4(C3):c.4645C>T (p.Leu1549=)SNV Conflicting interpretations of pathogenicity 732571 19:6678452-6678452 19:6678441-6678441
34 C3 NM_000064.4(C3):c.2157G>A (p.Ala719=)SNV Conflicting interpretations of pathogenicity 722778 19:6707175-6707175 19:6707164-6707164
35 C3 NM_000064.4(C3):c.4824C>T (p.Ser1608=)SNV Conflicting interpretations of pathogenicity 758206 19:6678189-6678189 19:6678178-6678178
36 C3 NM_000064.4(C3):c.1119+10G>ASNV Conflicting interpretations of pathogenicity 753058 19:6712509-6712509 19:6712498-6712498
37 C3 NM_000064.4(C3):c.3953T>G (p.Leu1318Arg)SNV Conflicting interpretations of pathogenicity 894696 19:6685015-6685015 19:6685004-6685004
38 C3 NM_000064.4(C3):c.4319A>C (p.Asp1440Ala)SNV Conflicting interpretations of pathogenicity 330284 rs147116781 19:6681983-6681983 19:6681972-6681972
39 C3 NM_000064.4(C3):c.1119+14C>TSNV Conflicting interpretations of pathogenicity 330330 rs374368486 19:6712505-6712505 19:6712494-6712494
40 C3 NM_000064.4(C3):c.1855G>A (p.Val619Met)SNV Conflicting interpretations of pathogenicity 330316 rs146613648 19:6707931-6707931 19:6707920-6707920
41 C3 NM_000064.4(C3):c.1164C>T (p.Pro388=)SNV Conflicting interpretations of pathogenicity 330328 rs769368306 19:6712373-6712373 19:6712362-6712362
42 C3 NM_000064.4(C3):c.1042A>G (p.Ile348Val)SNV Conflicting interpretations of pathogenicity 330331 rs141737564 19:6712596-6712596 19:6712585-6712585
43 C3 NM_000064.4(C3):c.3687C>T (p.Asn1229=)SNV Conflicting interpretations of pathogenicity 330291 rs201108539 19:6686258-6686258 19:6686247-6686247
44 C3 NM_000064.4(C3):c.3671G>A (p.Gly1224Asp)SNV Conflicting interpretations of pathogenicity 330292 rs11569534 19:6686274-6686274 19:6686263-6686263
45 C3 NM_000064.4(C3):c.1873A>T (p.Ile625Phe)SNV Conflicting interpretations of pathogenicity 330315 rs144432231 19:6707913-6707913 19:6707902-6707902
46 C3 NM_000064.4(C3):c.774-4G>ASNV Conflicting interpretations of pathogenicity 330335 rs368095422 19:6713524-6713524 19:6713513-6713513
47 C3 NM_000064.4(C3):c.681C>T (p.Tyr227=)SNV Conflicting interpretations of pathogenicity 330337 rs756694755 19:6714178-6714178 19:6714167-6714167
48 C3 NM_000064.4(C3):c.4850+12C>ASNV Conflicting interpretations of pathogenicity 330272 rs748416799 19:6678151-6678151 19:6678140-6678140
49 C3 NM_000064.4(C3):c.4759C>T (p.Pro1587Ser)SNV Conflicting interpretations of pathogenicity 330276 rs746985605 19:6678254-6678254 19:6678243-6678243
50 C3 NM_000064.4(C3):c.3993A>G (p.Thr1331=)SNV Conflicting interpretations of pathogenicity 330289 rs202210310 19:6684822-6684822 19:6684811-6684811

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

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