AHUS2
MCID: HML035
MIFTS: 26

Hemolytic Uremic Syndrome, Atypical 2 (AHUS2)

Categories: Blood diseases, Genetic diseases, Immune diseases, Nephrological diseases, Rare 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 72
Atypical Hemolytic Uremic with Mcp or Cd46 Anomaly 72
Hemolytic-Uremic Syndrome, Atypical, Type 2 39
Hemolytic Uremic Syndrome Atypical 2 72
Ahus, Susceptibility to, 2 57
Ahus 2 57

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
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:

31
hemolytic uremic syndrome, atypical 2:
Inheritance autosomal dominant inheritance autosomal recessive inheritance


Classifications:



Summaries for Hemolytic Uremic Syndrome, Atypical 2

UniProtKB/Swiss-Prot : 72 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 hypertension and proteinuria

More information from OMIM: 612922 PS235400

Related Diseases for Hemolytic Uremic Syndrome, Atypical 2

Symptoms & Phenotypes for Hemolytic Uremic Syndrome, Atypical 2

Human phenotypes related to Hemolytic Uremic Syndrome, Atypical 2:

31 (show all 10)
# Description HPO Frequency HPO Source Accession
1 hypertension 31 frequent (33%) HP:0000822
2 proteinuria 31 HP:0000093
3 thrombocytopenia 31 HP:0001873
4 hematuria 31 HP:0000790
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®:

57 (Updated 20-May-2021)
Genitourinary Kidneys:
proteinuria
hematuria
anuria
acute renal failure

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 (Updated 20-May-2021)

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:

40
Kidney

Publications for Hemolytic Uremic Syndrome, Atypical 2

Articles related to Hemolytic Uremic Syndrome, Atypical 2:

(show all 12)
# Title Authors PMID Year
1
Genetics of HUS: the impact of MCP, CFH, and IF mutations on clinical presentation, response to treatment, and outcome. 6 57
16621965 2006
2
Familial haemolytic uraemic syndrome and an MCP mutation. 57 6
14615110 2003
3
Mutations in human complement regulator, membrane cofactor protein (CD46), predispose to development of familial hemolytic uremic syndrome. 6 57
14566051 2003
4
Genetic studies into inherited and sporadic hemolytic uremic syndrome. 6 57
9551389 1998
5
Hemolytic uremic syndrome in three adult siblings: a familial study and evolution. 6 57
3480783 1987
6
Incomplete penetrance of CD46 mutation causing familial atypical hemolytic uremic syndrome. 6
26307634 2015
7
Insights into hemolytic uremic syndrome: segregation of three independent predisposition factors in a large, multiple affected pedigree. 57
16386793 2006
8
Predisposition to atypical hemolytic uremic syndrome involves the concurrence of different susceptibility alleles in the regulators of complement activation gene cluster in 1q32. 57
15661753 2005
9
Quantitative alleles of CR1: coding sequence analysis and comparison of haplotypes in two ethnic groups. 6
10528197 1999
10
An Ex Vivo Test of Complement Activation on Endothelium for Individualized Eculizumab Therapy in Hemolytic Uremic Syndrome. 61
30851964 2019
11
Successful 7-Year Eculizumab Treatment of Plasmapheresis-Resistant Recurrent Atypical Hemolytic-Uremic Syndrome due to Complement Factor H Hybrid Gene: A Case Report. 61
29661469 2018
12
The utility of ADAMTS13 in differentiating TTP from other acute thrombotic microangiopathies: results from the UK TTP Registry. 61
26359646 2015

Variations for Hemolytic Uremic Syndrome, Atypical 2

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

6 (show top 50) (show all 76)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 CD46 NM_172351.3(CD46):c.828G>A (p.Trp276Ter) SNV Pathogenic 829863 rs1571617647 GRCh37: 1:207940512-207940512
GRCh38: 1:207767167-207767167
2 CD46 NM_172351.3(CD46):c.404del (p.Gly135fs) Deletion Pathogenic 635500 rs1571588257 GRCh37: 1:207932997-207932997
GRCh38: 1:207759652-207759652
3 CD46 NM_172351.3(CD46):c.776del (p.Gly259fs) Deletion Pathogenic 265981 rs886039868 GRCh37: 1:207940458-207940458
GRCh38: 1:207767113-207767113
4 CD46 NM_172351.3(CD46):c.542_543del (p.Val180_Phe181insTer) Deletion Pathogenic 369948 rs1057516191 GRCh37: 1:207934659-207934660
GRCh38: 1:207761314-207761315
5 CD46 NM_172351.3(CD46):c.604C>T (p.Leu202Phe) SNV Pathogenic 599060 rs750324925 GRCh37: 1:207934722-207934722
GRCh38: 1:207761377-207761377
6 CD46 NM_172351.3(CD46):c.714_715del (p.Gln238fs) Deletion Pathogenic 829903 rs1571616755 GRCh37: 1:207940397-207940398
GRCh38: 1:207767052-207767053
7 CD46 NM_172351.3(CD46):c.286+2T>G SNV Pathogenic 505831 rs769742294 GRCh37: 1:207930549-207930549
GRCh38: 1:207757204-207757204
8 CD46 NM_172351.3(CD46):c.98-1G>C SNV risk factor 17047 rs1441937053 GRCh37: 1:207930358-207930358
GRCh38: 1:207757013-207757013
9 CD46 NM_172351.3(CD46):c.685C>T (p.Arg229Ter) SNV Likely pathogenic 438672 rs1553251787 GRCh37: 1:207940369-207940369
GRCh38: 1:207767024-207767024
10 CD46 NM_172351.3(CD46):c.718T>C (p.Ser240Pro) SNV risk factor 17046 rs121909589 GRCh37: 1:207940402-207940402
GRCh38: 1:207767057-207767057
11 CD46 NM_172351.3(CD46):c.175C>T (p.Arg59Ter) SNV risk factor 17048 rs121909590 GRCh37: 1:207930436-207930436
GRCh38: 1:207757091-207757091
12 CD46 NM_172351.3(CD46):c.104G>A (p.Cys35Tyr) SNV risk factor 17049 rs121909591 GRCh37: 1:207930365-207930365
GRCh38: 1:207757020-207757020
13 CD46 CD46, 2-BP DEL, 843AC Deletion risk factor 17044 GRCh37:
GRCh38:
14 CD46 CD46, 6-BP DEL Deletion risk factor 17045 GRCh37:
GRCh38:
15 CD46 NM_172351.3(CD46):c.1013C>T (p.Ala338Val) SNV Conflicting interpretations of pathogenicity 294975 rs35366573 GRCh37: 1:207958446-207958446
GRCh38: 1:207785101-207785101
16 CD46 NM_172351.3(CD46):c.558_559delinsCC (p.Val187Leu) Indel Uncertain significance 1029593 GRCh37: 1:207934676-207934677
GRCh38: 1:207761331-207761332
17 CD46 NM_172351.3(CD46):c.101C>T (p.Ala34Val) SNV Uncertain significance 829967 rs1571578126 GRCh37: 1:207930362-207930362
GRCh38: 1:207757017-207757017
18 CD46 NM_172351.3(CD46):c.*1659A>G SNV Uncertain significance 294992 rs886045844 GRCh37: 1:207968481-207968481
GRCh38: 1:207795136-207795136
19 CD46 NM_172351.3(CD46):c.*1888C>T SNV Uncertain significance 294995 rs886045846 GRCh37: 1:207968710-207968710
GRCh38: 1:207795365-207795365
20 CD46 NM_172351.3(CD46):c.*1418T>C SNV Uncertain significance 876760 GRCh37: 1:207968240-207968240
GRCh38: 1:207794895-207794895
21 CD46 NM_172351.3(CD46):c.*1272C>T SNV Uncertain significance 876759 GRCh37: 1:207968094-207968094
GRCh38: 1:207794749-207794749
22 CD46 NM_172351.3(CD46):c.*1265T>C SNV Uncertain significance 876758 GRCh37: 1:207968087-207968087
GRCh38: 1:207794742-207794742
23 CD46 NM_172351.3(CD46):c.*1211C>T SNV Uncertain significance 876757 GRCh37: 1:207968033-207968033
GRCh38: 1:207794688-207794688
24 CD46 NM_172351.3(CD46):c.*1146G>C SNV Uncertain significance 876756 GRCh37: 1:207967968-207967968
GRCh38: 1:207794623-207794623
25 CD46 NM_172351.3(CD46):c.857-185T>C SNV Uncertain significance 876705 GRCh37: 1:207940939-207940939
GRCh38: 1:207767594-207767594
26 CD46 NM_172351.3(CD46):c.586G>C (p.Gly196Arg) SNV Uncertain significance 876704 GRCh37: 1:207934704-207934704
GRCh38: 1:207761359-207761359
27 CD46 NM_172351.3(CD46):c.-10C>T SNV Uncertain significance 875707 GRCh37: 1:207925548-207925548
GRCh38: 1:207752203-207752203
28 CD46 NM_172351.3(CD46):c.*672A>T SNV Uncertain significance 875760 GRCh37: 1:207967494-207967494
GRCh38: 1:207794149-207794149
29 CD46 NM_172351.3(CD46):c.*518A>G SNV Uncertain significance 875759 GRCh37: 1:207967340-207967340
GRCh38: 1:207793995-207793995
30 CD46 NM_172351.3(CD46):c.293C>T (p.Thr98Ile) SNV Uncertain significance 875711 GRCh37: 1:207930891-207930891
GRCh38: 1:207757546-207757546
31 CD46 NM_172351.3(CD46):c.285T>C (p.Tyr95=) SNV Uncertain significance 875710 GRCh37: 1:207930546-207930546
GRCh38: 1:207757201-207757201
32 CD46 NM_172351.3(CD46):c.245G>A (p.Arg82Gln) SNV Uncertain significance 875709 GRCh37: 1:207930506-207930506
GRCh38: 1:207757161-207757161
33 CD46 NM_172351.3(CD46):c.*467T>C SNV Uncertain significance 874828 GRCh37: 1:207967289-207967289
GRCh38: 1:207793944-207793944
34 CD46 NM_172351.3(CD46):c.1104C>T (p.Thr368=) SNV Uncertain significance 874827 GRCh37: 1:207963619-207963619
GRCh38: 1:207790274-207790274
35 CD46 NM_172351.3(CD46):c.1090C>T (p.Leu364=) SNV Uncertain significance 874826 GRCh37: 1:207963605-207963605
GRCh38: 1:207790260-207790260
36 CD46 NM_172351.3(CD46):c.-127A>G SNV Uncertain significance 874783 GRCh37: 1:207925431-207925431
GRCh38: 1:207752086-207752086
37 CD46 NM_172351.3(CD46):c.*52G>A SNV Uncertain significance 294978 rs373138507 GRCh37: 1:207966874-207966874
GRCh38: 1:207793529-207793529
38 CD46 NM_172351.3(CD46):c.*1099A>G SNV Uncertain significance 294987 rs886045842 GRCh37: 1:207967921-207967921
GRCh38: 1:207794576-207794576
39 CD46 NM_172351.3(CD46):c.857-124T>A SNV Uncertain significance 294970 rs886045837 GRCh37: 1:207941000-207941000
GRCh38: 1:207767655-207767655
40 CD46 NM_172351.3(CD46):c.*180T>C SNV Uncertain significance 294979 rs886045840 GRCh37: 1:207967002-207967002
GRCh38: 1:207793657-207793657
41 CD46 NM_172351.3(CD46):c.*1963C>T SNV Uncertain significance 294996 rs886045847 GRCh37: 1:207968785-207968785
GRCh38: 1:207795440-207795440
42 CD46 NM_172351.3(CD46):c.901+9A>G SNV Uncertain significance 294973 rs370112627 GRCh37: 1:207941177-207941177
GRCh38: 1:207767832-207767832
43 CD46 NM_172351.3(CD46):c.*1111C>G SNV Uncertain significance 294988 rs193023975 GRCh37: 1:207967933-207967933
GRCh38: 1:207794588-207794588
44 CD46 NM_172351.3(CD46):c.*920A>G SNV Uncertain significance 294985 rs886045841 GRCh37: 1:207967742-207967742
GRCh38: 1:207794397-207794397
45 CD46 NM_172351.3(CD46):c.*614T>C SNV Uncertain significance 294982 rs561506830 GRCh37: 1:207967436-207967436
GRCh38: 1:207794091-207794091
46 CD46 NM_172351.3(CD46):c.*517T>A SNV Uncertain significance 294981 rs539666226 GRCh37: 1:207967339-207967339
GRCh38: 1:207793994-207793994
47 CD46 NM_172351.3(CD46):c.*1665G>A SNV Uncertain significance 294993 rs886045845 GRCh37: 1:207968487-207968487
GRCh38: 1:207795142-207795142
48 CD46 NM_172351.3(CD46):c.*1641A>G SNV Uncertain significance 294991 rs886045843 GRCh37: 1:207968463-207968463
GRCh38: 1:207795118-207795118
49 CD46 NM_172351.3(CD46):c.118A>G (p.Thr40Ala) SNV Uncertain significance 294967 rs753924720 GRCh37: 1:207930379-207930379
GRCh38: 1:207757034-207757034
50 CD46 NM_172351.3(CD46):c.949C>G (p.Pro317Ala) SNV Uncertain significance 294974 rs886045838 GRCh37: 1:207956642-207956642
GRCh38: 1:207783297-207783297

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

72
# 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 rs127176143

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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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