AHUS4
MCID: HML032
MIFTS: 25

Hemolytic Uremic Syndrome, Atypical 4 (AHUS4)

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

Aliases & Classifications for Hemolytic Uremic Syndrome, Atypical 4

MalaCards integrated aliases for Hemolytic Uremic Syndrome, Atypical 4:

Name: Hemolytic Uremic Syndrome, Atypical 4 56
Hemolytic Uremic Syndrome, Atypical, Susceptibility to, 4 56 13
Atypical Hemolytic-Uremic Syndrome 4 29 6
Ahus4 56 73
Atypical Hemolytic Uremic Syndrome with B Factor Anomaly 73
Hemolytic-Uremic Syndrome, Atypical, Type 4 39
Hemolytic Uremic Syndrome Atypical 4 73
Ahus, Susceptibility to, 4 56
Ahus 4 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 4:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Hemolytic Uremic Syndrome, Atypical 4

UniProtKB/Swiss-Prot : 73 Hemolytic uremic syndrome atypical 4: 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 4, is also known as hemolytic uremic syndrome, atypical, susceptibility to, 4. An important gene associated with Hemolytic Uremic Syndrome, Atypical 4 is CFB (Complement Factor B). Affiliated tissues include kidney, and related phenotypes are hypertension and proteinuria

More information from OMIM: 612924 PS235400

Related Diseases for Hemolytic Uremic Syndrome, Atypical 4

Symptoms & Phenotypes for Hemolytic Uremic Syndrome, Atypical 4

Human phenotypes related to Hemolytic Uremic Syndrome, Atypical 4:

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:

612924

Drugs & Therapeutics for Hemolytic Uremic Syndrome, Atypical 4

Search Clinical Trials , NIH Clinical Center for Hemolytic Uremic Syndrome, Atypical 4

Genetic Tests for Hemolytic Uremic Syndrome, Atypical 4

Genetic tests related to Hemolytic Uremic Syndrome, Atypical 4:

# Genetic test Affiliating Genes
1 Atypical Hemolytic-Uremic Syndrome 4 29 CFB

Anatomical Context for Hemolytic Uremic Syndrome, Atypical 4

MalaCards organs/tissues related to Hemolytic Uremic Syndrome, Atypical 4:

40
Kidney

Publications for Hemolytic Uremic Syndrome, Atypical 4

Articles related to Hemolytic Uremic Syndrome, Atypical 4:

# Title Authors PMID Year
1
Gain-of-function mutations in complement factor B are associated with atypical hemolytic uremic syndrome. 56 6
17182750 2007
2
Predisposition to atypical hemolytic uremic syndrome involves the concurrence of different susceptibility alleles in the regulators of complement activation gene cluster in 1q32. 56 6
15661753 2005
3
Familial hypocomplementemic hemolytic uremic syndrome with HLA-A3,B7 haplotype. 6 56
7452889 1981
4
Clinical practice guidelines for the management of atypical haemolytic uraemic syndrome in the United Kingdom. 6
19821824 2010
5
Atypical hemolytic-uremic syndrome. 6
19846853 2009
6
Genetic Atypical Hemolytic-Uremic Syndrome 6
20301541 2007
7
Recurrent case of pregnancy-induced atypical haemolytic uremic syndrome (P-aHUS). 61
30659006 2019

Variations for Hemolytic Uremic Syndrome, Atypical 4

ClinVar genetic disease variations for Hemolytic Uremic Syndrome, Atypical 4:

6 (show top 50) (show all 58) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 CFB NM_001710.6(CFB):c.1374G>A (p.Met458Ile)SNV Pathogenic 829990 6:31917300-31917300 6:31949523-31949523
2 CFB NM_001710.5(CFB):c.858C>G (p.Phe286Leu)SNV risk factor 16079 rs117905900 6:31915819-31915819 6:31948042-31948042
3 CFB NM_001710.5(CFB):c.967A>G (p.Lys323Glu)SNV risk factor 16080 rs121909748 6:31916220-31916220 6:31948443-31948443
4 CFB NM_001710.5(CFB):c.604C>T (p.Arg202Trp)SNV Conflicting interpretations of pathogenicity 356275 rs537478097 6:31915244-31915244 6:31947467-31947467
5 CFB NM_001710.5(CFB):c.1407C>G (p.Ile469Met)SNV Conflicting interpretations of pathogenicity 356288 rs201798809 6:31917333-31917333 6:31949556-31949556
6 C2 , CFB NM_000063.6(C2):c.1577A>G (p.Lys526Arg)SNV Conflicting interpretations of pathogenicity 908037 6:31911430-31911430 6:31943653-31943653
7 CFB NM_001710.6(CFB):c.784G>A (p.Val262Ile)SNV Conflicting interpretations of pathogenicity 906166 6:31915745-31915745 6:31947968-31947968
8 CFB NM_001710.6(CFB):c.1838C>T (p.Thr613Ile)SNV Conflicting interpretations of pathogenicity 907233 6:31918704-31918704 6:31950927-31950927
9 CFB NM_001710.6(CFB):c.1956+10G>ASNV Conflicting interpretations of pathogenicity 903888 6:31919031-31919031 6:31951254-31951254
10 C2 , CFB NM_001710.5(CFB):c.1143C>T (p.Arg381=)SNV Conflicting interpretations of pathogenicity 356285 rs150920440 6:31916713-31916713 6:31948936-31948936
11 CFB NM_001710.5(CFB):c.291G>A (p.Glu97=)SNV Conflicting interpretations of pathogenicity 356269 rs138236643 6:31914376-31914376 6:31946599-31946599
12 CFB NM_001710.5(CFB):c.1037-10C>TSNV Conflicting interpretations of pathogenicity 356283 rs201659953 6:31916597-31916597 6:31948820-31948820
13 CFB NM_001710.5(CFB):c.720G>A (p.Glu240=)SNV Conflicting interpretations of pathogenicity 356278 rs753831049 6:31915580-31915580 6:31947803-31947803
14 CFB NM_001710.5(CFB):c.*47C>TSNV Conflicting interpretations of pathogenicity 356298 rs375895797 6:31919854-31919854 6:31952077-31952077
15 CFB NM_001710.5(CFB):c.1217G>A (p.Arg406Gln)SNV Uncertain significance 369970 rs1057516209 6:31917068-31917068 6:31949291-31949291
16 CFB NM_001710.5(CFB):c.1861G>A (p.Glu621Lys)SNV Uncertain significance 369946 rs573842877 6:31918926-31918926 6:31951149-31951149
17 CFB NM_001710.5(CFB):c.1593T>C (p.Asp531=)SNV Uncertain significance 356291 rs886061296 6:31918149-31918149 6:31950372-31950372
18 CFB NM_001710.5(CFB):c.-3G>ASNV Uncertain significance 356267 rs755016493 6:31913996-31913996 6:31946219-31946219
19 CFB NM_001710.5(CFB):c.656A>T (p.Gln219Leu)SNV Uncertain significance 356276 rs886061295 6:31915296-31915296 6:31947519-31947519
20 CFB NM_001710.5(CFB):c.1524C>A (p.His508Gln)SNV Uncertain significance 356289 rs138207668 6:31918080-31918080 6:31950303-31950303
21 CFB NM_001710.5(CFB):c.1227A>G (p.Leu409=)SNV Uncertain significance 356286 rs761050063 6:31917078-31917078 6:31949301-31949301
22 CFB NM_001710.6(CFB):c.118G>A (p.Glu40Lys)SNV Uncertain significance 830012 6:31914203-31914203 6:31946426-31946426
23 CFB NM_001710.6(CFB):c.427C>T (p.Arg143Cys)SNV Uncertain significance 829882 6:31914912-31914912 6:31947135-31947135
24 CFB NM_001710.6(CFB):c.1762T>C (p.Tyr588His)SNV Uncertain significance 906231 6:31918533-31918533 6:31950756-31950756
25 CFB NM_001710.6(CFB):c.1803G>A (p.Glu601=)SNV Uncertain significance 907232 6:31918669-31918669 6:31950892-31950892
26 CFB NM_001710.6(CFB):c.917A>G (p.Lys306Arg)SNV Uncertain significance 906167 6:31916170-31916170 6:31948393-31948393
27 CFB NM_001710.6(CFB):c.1290C>T (p.Val430=)SNV Uncertain significance 903818 6:31917216-31917216 6:31949439-31949439
28 CFB NC_000006.12:g.31946023T>CSNV Uncertain significance 904798 6:31913800-31913800 6:31946023-31946023
29 CFB NM_001710.6(CFB):c.274A>T (p.Thr92Ser)SNV Uncertain significance 906097 6:31914359-31914359 6:31946582-31946582
30 CFB NM_001710.6(CFB):c.334G>C (p.Gly112Arg)SNV Uncertain significance 907102 6:31914819-31914819 6:31947042-31947042
31 CFB NM_001710.5(CFB):c.1889C>T (p.Ala630Val)SNV Uncertain significance 356294 rs886061297 6:31918954-31918954 6:31951177-31951177
32 CFB NM_001710.5(CFB):c.*16A>TSNV Uncertain significance 356296 rs749158582 6:31919823-31919823 6:31952046-31952046
33 CFB NM_001710.6(CFB):c.2069C>T (p.Ala690Val)SNV Uncertain significance 903889 6:31919230-31919230 6:31951453-31951453
34 CFB NM_001710.5(CFB):c.321C>T (p.His107=)SNV Uncertain significance 356270 rs767428982 6:31914806-31914806 6:31947029-31947029
35 CFB NM_001710.5(CFB):c.724A>C (p.Ile242Leu)SNV Likely benign 356279 rs144812066 6:31915584-31915584 6:31947807-31947807
36 C2 , CFB NM_001710.5(CFB):c.221G>A (p.Arg74His)SNV Likely benign 356268 rs117314762 6:31914306-31914306 6:31946529-31946529
37 C2 , CFB NM_001710.5(CFB):c.858C>T (p.Phe286=)SNV Likely benign 356281 rs117905900 6:31915819-31915819 6:31948042-31948042
38 C2 , CFB NM_001710.5(CFB):c.754G>A (p.Gly252Ser)SNV Benign/Likely benign 356280 rs4151651 6:31915614-31915614 6:31947837-31947837
39 C2 , CFB NM_001710.5(CFB):c.405C>T (p.Tyr135=)SNV Benign/Likely benign 356271 rs4151650 6:31914890-31914890 6:31947113-31947113
40 C2 , CFB NM_001710.5(CFB):c.600C>T (p.Ser200=)SNV Benign/Likely benign 356274 rs113197809 6:31915240-31915240 6:31947463-31947463
41 C2 , CFB NM_001710.6(CFB):c.26T>A (p.Leu9His)SNV Benign/Likely benign 16077 rs4151667 6:31914024-31914024 6:31946247-31946247
42 C2 , CFB NM_001710.6(CFB):c.1598A>G (p.Lys533Arg)SNV Benign/Likely benign 225313 rs149101394 6:31918154-31918154 6:31950377-31950377
43 CFB NM_001710.5(CFB):c.1697A>C (p.Glu566Ala)SNV Benign/Likely benign 225314 rs45484591 6:31918468-31918468 6:31950691-31950691
44 CFB NM_001710.6(CFB):c.1548G>A (p.Val516=)SNV Benign/Likely benign 905719 6:31918104-31918104 6:31950327-31950327
45 C2 , CFB NM_001710.5(CFB):c.95G>A (p.Arg32Gln)SNV Benign/Likely benign 16075 rs641153 6:31914180-31914180 6:31946403-31946403
46 C2 , CFB NM_001710.5(CFB):c.672C>T (p.Tyr224=)SNV Benign/Likely benign 356277 rs4151670 6:31915532-31915532 6:31947755-31947755
47 C2 , CFB NM_001710.5(CFB):c.1365C>T (p.Val455=)SNV Benign/Likely benign 356287 rs2072634 6:31917291-31917291 6:31949514-31949514
48 CFB NM_001710.5(CFB):c.2100C>T (p.Gly700=)SNV Benign/Likely benign 356295 rs116928087 6:31919342-31919342 6:31951565-31951565
49 C2 , CFB NM_001710.5(CFB):c.1524C>T (p.His508=)SNV Benign/Likely benign 356290 rs138207668 6:31918080-31918080 6:31950303-31950303
50 C2 , CFB NM_001710.5(CFB):c.504G>A (p.Pro168=)SNV Benign/Likely benign 356273 rs4151669 6:31915144-31915144 6:31947367-31947367

UniProtKB/Swiss-Prot genetic disease variations for Hemolytic Uremic Syndrome, Atypical 4:

73
# Symbol AA change Variation ID SNP ID
1 CFB p.Phe286Leu VAR_063221 rs117905900
2 CFB p.Lys323Glu VAR_063222 rs121909748
3 CFB p.Ser166Pro VAR_063659
4 CFB p.Arg203Gln VAR_063660 rs745794224
5 CFB p.Ile242Leu VAR_063661 rs144812066
6 CFB p.Lys323Gln VAR_063662
7 CFB p.Met458Ile VAR_063663 rs200837114

Expression for Hemolytic Uremic Syndrome, Atypical 4

Search GEO for disease gene expression data for Hemolytic Uremic Syndrome, Atypical 4.

Pathways for Hemolytic Uremic Syndrome, Atypical 4

GO Terms for Hemolytic Uremic Syndrome, Atypical 4

Sources for Hemolytic Uremic Syndrome, Atypical 4

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32 ICD10
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68 SNOMED-CT via HPO
69 TGDB
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72 UMLS via Orphanet
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