Hemolytic Uremic Syndrome, Atypical 3 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

AHUS3 MCID: HML034 MIFTS: 26	Hemolytic Uremic Syndrome, Atypical 3 (AHUS3) 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 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:

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

See all MalaCards categories (disease lists)

External Ids:

OMIM ⁵⁶ 612923

OMIM Phenotypic Series ⁵⁶ PS235400

MeSH ⁴³ D006463

MedGen ⁴¹ C2752039 CN043568

SNOMED-CT via HPO ⁶⁸ 111407006 14350001000004108 14669001 more

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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

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Related Diseases for Hemolytic Uremic Syndrome, Atypical 3

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 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

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Drugs & Therapeutics for Hemolytic Uremic Syndrome, Atypical 3

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

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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

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Anatomical Context for Hemolytic Uremic Syndrome, Atypical 3

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

⁴⁰

Kidney

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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	Caprioli J...International Registry of Recurrent and Familial HUS/TTP	16621965	2006
2	Complement factor I: a susceptibility gene for atypical haemolytic uraemic syndrome. ⁶ ⁵⁶	Fremeaux-Bacchi V...Fridman WH	15173250	2004
3	A functional variant in the CFI gene confers a high risk of age-related macular degeneration. ⁶	van de Ven JP...den Hollander AI	23685748	2013
4	Mutations in alternative pathway complement proteins in American patients with atypical hemolytic uremic syndrome. ⁶	Maga TK...Smith RJ	20513133	2010
5	Pregnancy-associated hemolytic uremic syndrome revisited in the era of complement gene mutations. ⁶	Fakhouri F...Fremeaux-Bacchi V	20203157	2010
6	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
7	Atypical hemolytic-uremic syndrome. ⁶	Noris M...Remuzzi G	19846853	2009
8	Genetic Atypical Hemolytic-Uremic Syndrome ⁶	Noris M...Remuzzi G	20301541	2007
9	Insights into hemolytic uremic syndrome: segregation of three independent predisposition factors in a large, multiple affected pedigree. ⁵⁶	Esparza-Gordillo J...de Cordoba SR	16386793	2006

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Genes for Hemolytic Uremic Syndrome, Atypical 3

Genes related to Hemolytic Uremic Syndrome, Atypical 3 (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	CFI	Complement Factor I	Protein Coding	993.7	Molecular basis known ⁵⁶ Causative variation ⁷³ Genetic Tests ²⁹ Susceptibility factor ⁵⁶ Risk factor ⁶ GeneCards inferred via : Disorders Variants (show sections)	15173250 20203157 20301541 (more) 19846853 19821824 23685748 16621965 20513133

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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>T	SNV	Uncertain significance	900731		4:110723298-110723298	4:109802142-109802142
18	CFI	NM_000204.5(CFI):c.57+9T>C	SNV	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>A	SNV	Uncertain significance	347161	rs568070697	4:110670646-110670646	4:109749490-109749490
31	CFI	NM_000204.4(CFI):c.-98T>C	SNV	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>G	SNV	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>C	SNV	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>G	SNV	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>T	SNV	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>C	SNV	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

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Expression for Hemolytic Uremic Syndrome, Atypical 3

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

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Pathways for Hemolytic Uremic Syndrome, Atypical 3

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GO Terms for Hemolytic Uremic Syndrome, Atypical 3

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Sources for Hemolytic Uremic Syndrome, Atypical 3

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²⁰ GeneAnalytics

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²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ Genetics Home Reference

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²⁷ GEO DataSets

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³³ ICD10 via Orphanet

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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 3 (AHUS3)

Aliases & Classifications for Hemolytic Uremic Syndrome, Atypical 3

MalaCards integrated aliases for Hemolytic Uremic Syndrome, Atypical 3:

Characteristics:

OMIM:

HPO:

Classifications:

External Ids:

Summaries for Hemolytic Uremic Syndrome, Atypical 3

Related Diseases for Hemolytic Uremic Syndrome, Atypical 3

Diseases in the Hemolytic Uremic Syndrome, Atypical 1 family:

Symptoms & Phenotypes for Hemolytic Uremic Syndrome, Atypical 3

Human phenotypes related to Hemolytic Uremic Syndrome, Atypical 3:

Symptoms via clinical synopsis from OMIM:

Clinical features from OMIM:

Drugs & Therapeutics for Hemolytic Uremic Syndrome, Atypical 3

Genetic Tests for Hemolytic Uremic Syndrome, Atypical 3

Genetic tests related to Hemolytic Uremic Syndrome, Atypical 3:

Anatomical Context for Hemolytic Uremic Syndrome, Atypical 3

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

Publications for Hemolytic Uremic Syndrome, Atypical 3

Articles related to Hemolytic Uremic Syndrome, Atypical 3:

Genes for Hemolytic Uremic Syndrome, Atypical 3

Genes related to Hemolytic Uremic Syndrome, Atypical 3 (1 elite genes):

Variations for Hemolytic Uremic Syndrome, Atypical 3

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

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

Expression 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