Hemolytic Uremic Syndrome, Atypical 4 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

AHUS4 MCID: HML032 MIFTS: 25	Hemolytic Uremic Syndrome, Atypical 4 (AHUS4) Categories: Blood diseases, Genetic diseases, Immune diseases, Nephrological diseases, Rare diseases
Genes Variations Tissues Publications Symptoms & Phenotypes Expand all tables

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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:

MalaCards categories:
Global: Genetic diseases Rare diseases
Anatomical: Nephrological diseases Blood diseases Immune diseases

See all MalaCards categories (disease lists)

External Ids:

OMIM ⁵⁶ 612924

OMIM Phenotypic Series ⁵⁶ PS235400

MeSH ⁴³ D006463

MedGen ⁴¹ C2752038

SNOMED-CT via HPO ⁶⁸ 111407006 14350001000004108 14669001 more

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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

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Related Diseases for Hemolytic Uremic Syndrome, Atypical 4

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

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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

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Drugs & Therapeutics for Hemolytic Uremic Syndrome, Atypical 4

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

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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

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Anatomical Context for Hemolytic Uremic Syndrome, Atypical 4

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

⁴⁰

Kidney

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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	Goicoechea de Jorge E...Rodriguez de Cordoba S	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	Esparza-Gordillo J...Rodriguez de Cordoba S	15661753	2005
3	Familial hypocomplementemic hemolytic uremic syndrome with HLA-A3,B7 haplotype. ⁶ ⁵⁶	Carreras L...Alsina J	7452889	1981
4	Clinical practice guidelines for the management of atypical haemolytic uraemic syndrome in the United Kingdom. ⁶	Taylor CM...working party from the Renal Association, the British Committee for Standards in Haematology and the British Transplantation Society	19821824	2010
5	Atypical hemolytic-uremic syndrome. ⁶	Noris M...Remuzzi G	19846853	2009
6	Genetic Atypical Hemolytic-Uremic Syndrome ⁶	Noris M...Remuzzi G	20301541	2007
7	Recurrent case of pregnancy-induced atypical haemolytic uremic syndrome (P-aHUS). ⁶¹	Kumar D...Acharya A	30659006	2019

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Genes for Hemolytic Uremic Syndrome, Atypical 4

Genes related to Hemolytic Uremic Syndrome, Atypical 4 (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	CFB	Complement Factor B	Protein Coding	1393.59	Molecular basis known ⁵⁶ Pathogenic ⁶ Causative variation ⁷³ Genetic Tests ²⁹ Susceptibility factor ⁵⁶ Risk factor ⁶ GeneCards inferred via : Disorders Variants (show sections)	17182750 20301541 7452889 (more) 19846853 19821824 15661753

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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>A	SNV	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>T	SNV	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>T	SNV	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>A	SNV	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>C	SNV	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>T	SNV	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

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Expression for Hemolytic Uremic Syndrome, Atypical 4

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

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Pathways for Hemolytic Uremic Syndrome, Atypical 4

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GO Terms for Hemolytic Uremic Syndrome, Atypical 4

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Sources for Hemolytic Uremic Syndrome, Atypical 4

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²³ GeneHancer via GeneCards

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⁴⁰ MalaCards

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⁶⁷ SNOMED-CT

⁶⁸ SNOMED-CT via HPO

⁶⁹ TGDB

⁷⁰ Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ Wikipedia

Hemolytic Uremic Syndrome, Atypical 4 (AHUS4)

Aliases & Classifications for Hemolytic Uremic Syndrome, Atypical 4

MalaCards integrated aliases for Hemolytic Uremic Syndrome, Atypical 4:

Characteristics:

OMIM:

HPO:

Classifications:

External Ids:

Summaries for Hemolytic Uremic Syndrome, Atypical 4

Related Diseases for Hemolytic Uremic Syndrome, Atypical 4

Diseases in the Hemolytic Uremic Syndrome, Atypical 1 family:

Symptoms & Phenotypes for Hemolytic Uremic Syndrome, Atypical 4

Human phenotypes related to Hemolytic Uremic Syndrome, Atypical 4:

Symptoms via clinical synopsis from OMIM:

Clinical features from OMIM:

Drugs & Therapeutics for Hemolytic Uremic Syndrome, Atypical 4

Genetic Tests for Hemolytic Uremic Syndrome, Atypical 4

Genetic tests related to Hemolytic Uremic Syndrome, Atypical 4:

Anatomical Context for Hemolytic Uremic Syndrome, Atypical 4

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

Publications for Hemolytic Uremic Syndrome, Atypical 4

Articles related to Hemolytic Uremic Syndrome, Atypical 4:

Genes for Hemolytic Uremic Syndrome, Atypical 4

Genes related to Hemolytic Uremic Syndrome, Atypical 4 (1 elite genes):

Variations for Hemolytic Uremic Syndrome, Atypical 4

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

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

Expression 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