AHUS3
MCID: HML034
MIFTS: 26

Hemolytic Uremic Syndrome, Atypical 3 (AHUS3)

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

Aliases & Classifications for Hemolytic Uremic Syndrome, Atypical 3

MalaCards integrated aliases for Hemolytic Uremic Syndrome, Atypical 3:

Name: Hemolytic Uremic Syndrome, Atypical 3 56
Hemolytic Uremic Syndrome, Atypical, Susceptibility to, 3 56 13
Atypical Hemolytic-Uremic Syndrome 3 29 6
Ahus3 56 73
Atypical Hemolytic Uremic Syndrome with I Factor Anomaly 73
Hemolytic-Uremic Syndrome, Atypical, Type 3 39
Hemolytic Uremic Syndrome Atypical 3 73
Ahus, Susceptibility to, 3 56
Ahus 3 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 3:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Hemolytic Uremic Syndrome, Atypical 3

UniProtKB/Swiss-Prot : 73 Hemolytic uremic syndrome atypical 3: 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 3, is also known as hemolytic uremic syndrome, atypical, susceptibility to, 3. An important gene associated with Hemolytic Uremic Syndrome, Atypical 3 is CFI (Complement Factor I). Affiliated tissues include kidney, and related phenotypes are hypertension and proteinuria

More information from OMIM: 612923 PS235400

Related Diseases for Hemolytic Uremic Syndrome, Atypical 3

Symptoms & Phenotypes for Hemolytic Uremic Syndrome, Atypical 3

Human phenotypes related to Hemolytic Uremic Syndrome, Atypical 3:

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
decreased or normal serum factor i
decreased or normal serum factor b

Cardiovascular Vascular:
hypertension (variable)

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

Immunology:
defective complement regulation

Clinical features from OMIM:

612923

Drugs & Therapeutics for Hemolytic Uremic Syndrome, Atypical 3

Search Clinical Trials , NIH Clinical Center for Hemolytic Uremic Syndrome, Atypical 3

Genetic Tests for Hemolytic Uremic Syndrome, Atypical 3

Genetic tests related to Hemolytic Uremic Syndrome, Atypical 3:

# Genetic test Affiliating Genes
1 Atypical Hemolytic-Uremic Syndrome 3 29 CFI

Anatomical Context for Hemolytic Uremic Syndrome, Atypical 3

MalaCards organs/tissues related to Hemolytic Uremic Syndrome, Atypical 3:

40
Kidney

Publications for Hemolytic Uremic Syndrome, Atypical 3

Articles related to Hemolytic Uremic Syndrome, Atypical 3:

# Title Authors PMID Year
1
Genetics of HUS: the impact of MCP, CFH, and IF mutations on clinical presentation, response to treatment, and outcome. 56 6
16621965 2006
2
Complement factor I: a susceptibility gene for atypical haemolytic uraemic syndrome. 6 56
15173250 2004
3
A functional variant in the CFI gene confers a high risk of age-related macular degeneration. 6
23685748 2013
4
Mutations in alternative pathway complement proteins in American patients with atypical hemolytic uremic syndrome. 6
20513133 2010
5
Pregnancy-associated hemolytic uremic syndrome revisited in the era of complement gene mutations. 6
20203157 2010
6
Clinical practice guidelines for the management of atypical haemolytic uraemic syndrome in the United Kingdom. 6
19821824 2010
7
Atypical hemolytic-uremic syndrome. 6
19846853 2009
8
Genetic Atypical Hemolytic-Uremic Syndrome 6
20301541 2007
9
Insights into hemolytic uremic syndrome: segregation of three independent predisposition factors in a large, multiple affected pedigree. 56
16386793 2006

Variations for Hemolytic Uremic Syndrome, Atypical 3

ClinVar genetic disease variations for Hemolytic Uremic Syndrome, Atypical 3:

6 (show top 50) (show all 72) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 CFI NM_000204.4(CFI):c.310G>A (p.Gly104Arg)SNV Likely pathogenic 522480 rs200419722 4:110687728-110687728 4:109766572-109766572
2 CFI NM_000204.4(CFI):c.559C>T (p.Arg187Ter)SNV Likely pathogenic 631934 rs368615806 4:110682772-110682772 4:109761616-109761616
3 CFI NM_000204.4(CFI):c.1165C>T (p.Arg389Cys)SNV Likely pathogenic 635432 4:110667642-110667642 4:109746486-109746486
4 CFI NM_000204.5(CFI):c.1118G>C (p.Cys373Ser)SNV Likely pathogenic 829988 4:110670404-110670404 4:109749248-109749248
5 CFI NM_000204.4(CFI):c.1420C>T (p.Arg474Ter)SNV risk factor 12121 rs121964913 4:110667387-110667387 4:109746231-109746231
6 CFI NM_000204.4(CFI):c.1571A>T (p.Asp524Val)SNV risk factor 12122 rs121964914 4:110662230-110662230 4:109741074-109741074
7 CFI NM_000204.4(CFI):c.1637G>A (p.Trp546Ter)SNV risk factor 12123 rs121964915 4:110662164-110662164 4:109741008-109741008
8 CFI NM_000204.4(CFI):c.949C>T (p.Arg317Trp)SNV risk factor 12125 rs121964917 4:110670750-110670750 4:109749594-109749594
9 CFI NM_000204.4(CFI):c.1555G>A (p.Asp519Asn)SNV risk factor 12126 rs121964918 4:110662246-110662246 4:109741090-109741090
10 CFI NM_000204.4(CFI):c.355G>A (p.Gly119Arg)SNV Uncertain significance 66014 rs141853578 4:110685820-110685820 4:109764664-109764664
11 CFI NM_000204.5(CFI):c.424A>C (p.Lys142Gln)SNV Uncertain significance 903199 4:110685751-110685751 4:109764595-109764595
12 CFI NM_000204.5(CFI):c.373G>C (p.Gly125Arg)SNV Uncertain significance 903200 4:110685802-110685802 4:109764646-109764646
13 CFI NM_000204.5(CFI):c.148C>G (p.Pro50Ala)SNV Uncertain significance 899590 4:110687890-110687890 4:109766734-109766734
14 CFI NM_000204.5(CFI):c.91A>C (p.Lys31Gln)SNV Uncertain significance 899591 4:110687947-110687947 4:109766791-109766791
15 CFI NM_000204.5(CFI):c.60C>T (p.Val20=)SNV Uncertain significance 899592 4:110687978-110687978 4:109766822-109766822
16 CFI NM_000204.5(CFI):c.1A>G (p.Met1Val)SNV Uncertain significance 899595 4:110723127-110723127 4:109801971-109801971
17 CFI NC_000004.12:g.109802142C>TSNV Uncertain significance 900731 4:110723298-110723298 4:109802142-109802142
18 CFI NM_000204.5(CFI):c.57+9T>CSNV Uncertain significance 899593 4:110723062-110723062 4:109801906-109801906
19 CFI NM_000204.5(CFI):c.850T>G (p.Cys284Gly)SNV Uncertain significance 829894 4:110681459-110681459 4:109760303-109760303
20 CFI NM_000204.5(CFI):c.184A>G (p.Lys62Glu)SNV Uncertain significance 829862 4:110687854-110687854 4:109766698-109766698
21 CFI NM_000204.5(CFI):c.950G>A (p.Arg317Gln)SNV Uncertain significance 900656 4:110670749-110670749 4:109749593-109749593
22 CFI NM_000204.5(CFI):c.781G>A (p.Gly261Ser)SNV Uncertain significance 902336 4:110681528-110681528 4:109760372-109760372
23 CFI NM_000204.4(CFI):c.209A>C (p.Asn70Thr)SNV Uncertain significance 635452 4:110687829-110687829 4:109766673-109766673
24 CFI NM_000204.4(CFI):c.205A>G (p.Lys69Glu)SNV Uncertain significance 599091 rs771325547 4:110687833-110687833 4:109766677-109766677
25 CFI NM_000204.4(CFI):c.1532C>T (p.Ala511Val)SNV Uncertain significance 625917 rs760801046 4:110663649-110663649 4:109742493-109742493
26 CFI NM_000204.4(CFI):c.454G>A (p.Val152Met)SNV Uncertain significance 420176 rs367677199 4:110685721-110685721 4:109764565-109764565
27 CFI NM_000204.4(CFI):c.1709G>C (p.Ser570Thr)SNV Uncertain significance 438686 rs200973120 4:110662092-110662092 4:109740936-109740936
28 CFI NM_000204.5(CFI):c.1355C>A (p.Ala452Asp)SNV Uncertain significance 829951 4:110667452-110667452 4:109746296-109746296
29 CFI NM_000204.5(CFI):c.1160C>T (p.Thr387Ile)SNV Uncertain significance 829989 4:110667647-110667647 4:109746491-109746491
30 CFI NM_000204.4(CFI):c.1044+9G>ASNV Uncertain significance 347161 rs568070697 4:110670646-110670646 4:109749490-109749490
31 CFI NM_000204.4(CFI):c.-98T>CSNV Uncertain significance 347178 rs886058984 4:110723225-110723225 4:109802069-109802069
32 CFI NM_000204.4(CFI):c.1429G>C (p.Asp477His)SNV Uncertain significance 347153 rs754972981 4:110667378-110667378 4:109746222-109746222
33 CFI NM_000204.4(CFI):c.1381T>C (p.Phe461Leu)SNV Uncertain significance 347155 rs886058983 4:110667426-110667426 4:109746270-109746270
34 CFI NM_000204.4(CFI):c.1516A>C (p.Lys506Gln)SNV Uncertain significance 347149 rs886058982 4:110663665-110663665 4:109742509-109742509
35 CFI NM_000204.4(CFI):c.1429+5A>GSNV Uncertain significance 347152 rs771786368 4:110667373-110667373 4:109746217-109746217
36 CFI NM_000204.4(CFI):c.1112G>T (p.Gly371Val)SNV Uncertain significance 347160 rs763931500 4:110670410-110670410 4:109749254-109749254
37 CFI NM_000204.4(CFI):c.905-3T>CSNV Uncertain significance 347164 rs377535161 4:110673662-110673662 4:109752506-109752506
38 CFI NM_000204.4(CFI):c.540A>G (p.Glu180=)SNV Likely benign 347169 rs759777516 4:110682791-110682791 4:109761635-109761635
39 CFI NM_000204.4(CFI):c.916A>G (p.Ile306Val)SNV Likely benign 347163 rs113273712 4:110673648-110673648 4:109752492-109752492
40 CFI NM_000204.4(CFI):c.129C>T (p.Cys43=)SNV Likely benign 347176 rs146462954 4:110687909-110687909 4:109766753-109766753
41 CFI NM_000204.4(CFI):c.309C>T (p.Asn103=)SNV Likely benign 347175 rs761425840 4:110687729-110687729 4:109766573-109766573
42 CFI NM_000204.4(CFI):c.1657C>T (p.Pro553Ser)SNV Likely benign 347146 rs113460688 4:110662144-110662144 4:109740988-109740988
43 CFI NM_000204.5(CFI):c.57+4A>GSNV Likely benign 899594 4:110723067-110723067 4:109801911-109801911
44 CFI NM_000204.4(CFI):c.782G>A (p.Gly261Asp)SNV Likely benign 65580 rs112534524 4:110681527-110681527 4:109760371-109760371
45 CFI NM_000204.5(CFI):c.1534+5G>TSNV Benign/Likely benign 252469 rs114013791 4:110663642-110663642 4:109742486-109742486
46 CFI NM_000204.4(CFI):c.1642G>C (p.Glu548Gln)SNV Benign/Likely benign 347147 rs7437875 4:110662159-110662159 4:109741003-109741003
47 CFI NM_000204.4(CFI):c.1246A>C (p.Ile416Leu)SNV Benign/Likely benign 347157 rs61733901 4:110667561-110667561 4:109746405-109746405
48 CFI NM_000204.4(CFI):c.*144T>CSNV Benign 347142 rs77449037 4:110661905-110661905 4:109740749-109740749
49 CFI NM_000204.4(CFI):c.1322A>G (p.Lys441Arg)SNV Benign 347156 rs41278047 4:110667485-110667485 4:109746329-109746329
50 CFI NM_000204.4(CFI):c.1206C>T (p.Pro402=)SNV Benign 347159 rs115780371 4:110667601-110667601 4:109746445-109746445

UniProtKB/Swiss-Prot genetic disease variations for Hemolytic Uremic Syndrome, Atypical 3:

73
# Symbol AA change Variation ID SNP ID
1 CFI p.Ile340Thr VAR_030343 rs769419740
2 CFI p.Asp524Val VAR_030344 rs121964914
3 CFI p.Pro64Leu VAR_063665 rs773187287
4 CFI p.Gly119Arg VAR_063666 rs141853578
5 CFI p.His183Arg VAR_063667 rs75612300
6 CFI p.Gly287Arg VAR_063668 rs182078921
7 CFI p.Arg317Trp VAR_063669 rs121964917
8 CFI p.Ile416Leu VAR_063670 rs61733901
9 CFI p.Asp519Asn VAR_063671 rs121964918
10 CFI p.Lys522Thr VAR_063672

Expression for Hemolytic Uremic Syndrome, Atypical 3

Search GEO for disease gene expression data for Hemolytic Uremic Syndrome, Atypical 3.

Pathways for Hemolytic Uremic Syndrome, Atypical 3

GO Terms for Hemolytic Uremic Syndrome, Atypical 3

Sources for Hemolytic Uremic Syndrome, Atypical 3

3 CDC
7 CNVD
9 Cosmic
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11 DGIdb
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28 GO
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32 ICD10
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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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