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

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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 ⁵⁸

Hemolytic Uremic Syndrome, Atypical, Susceptibility to, 4 ⁵⁸ ¹³

Atypical Hemolytic-Uremic Syndrome 4 ³⁰ ⁶

Ahus4 ⁵⁸ ⁷⁶

Hemolytic-Uremic Syndrome Without Diarrhea with B Factor Anomaly ⁶⁰

Atypical Hemolytic-Uremic Syndrome with B Factor Anomaly ⁶⁰

Atypical Hemolytic Uremic Syndrome with B Factor Anomaly ⁷⁶

Hemolytic-Uremic Syndrome, Atypical, Type 4 ⁴¹

Hemolytic Uremic Syndrome Atypical 4 ⁷⁶

Atypical Hus with B Factor Anomaly ⁶⁰

D-Hus with B Factor Anomaly ⁶⁰

Ahus, Susceptibility to, 4 ⁵⁸

Ahus with B Factor Anomaly ⁶⁰

Ahus 4 ⁵⁸

Characteristics:

OMIM:

⁵⁸

Inheritance:
autosomal dominant

Miscellaneous:
recurrence is possible
variable age of onset (childhood to young adulthood)

HPO:

³³

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)

ICD10: ³⁵

Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism

Haemolytic anaemias

Other hereditary haemolytic anaemias

Other specified hereditary haemolytic anaemias

Orphanet: ⁶⁰

Rare renal diseases

Rare haematological diseases

External Ids:

OMIM ⁵⁸ 612924

MeSH ⁴⁵ D006463

ICD10 via Orphanet ³⁵ D58.8

Orphanet ⁶⁰ ORPHA93578

MedGen ⁴³ C2752038

SNOMED-CT via HPO ⁷⁰ 111407006 14350001000004108 14669001 more

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Summaries for Hemolytic Uremic Syndrome, Atypical 4

UniProtKB/Swiss-Prot : ⁷⁶ 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

Description from OMIM: 612924

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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:

³³ (show all 10)

#	Description	HPO Frequency	HPO Source Accession
1	hypertension ³³	frequent (33%)	HP:0000822
2	proteinuria ³³		HP:0000093
3	thrombocytopenia ³³		HP:0001873
4	hematuria ³³		HP:0000790
5	elevated serum creatinine ³³		HP:0003259
6	acute kidney injury ³³		HP:0001919
7	microangiopathic hemolytic anemia ³³		HP:0001937
8	increased blood urea nitrogen ³³		HP:0003138
9	anuria ³³		HP:0100519
10	hemolytic-uremic syndrome ³³		HP:0005575

Symptoms via clinical synopsis from OMIM:

⁵⁸

Genitourinary Kidneys:
proteinuria
hematuria
acute renal failure
anuria

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 ³⁰	CFB

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Anatomical Context for Hemolytic Uremic Syndrome, Atypical 4

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

⁴²

Kidney

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Publications for Hemolytic Uremic Syndrome, Atypical 4

Articles related to Hemolytic Uremic Syndrome, Atypical 4:

#	Title	Authors	Year
1	Clinical practice guidelines for the management of atypical haemolytic uraemic syndrome in the United Kingdom. ( 19821824 )	Taylor CM...working party from the Renal Association, the British Committee for Standards in Haematology and the British Transplantation Society	2010
2	Atypical hemolytic-uremic syndrome. ( 19846853 )	Noris M...Remuzzi G	2009
3	Gain-of-function mutations in complement factor B are associated with atypical hemolytic uremic syndrome. ( 17182750 )	Goicoechea de Jorge E...Rodr?guez de C?rdoba S	2007
4	Predisposition to atypical hemolytic uremic syndrome involves the concurrence of different susceptibility alleles in the regulators of complement activation gene cluster in 1q32. ( 15661753 )	Esparza-Gordillo J...Rodr?guez de C?rdoba S	2005
5	Familial hypocomplementemic hemolytic uremic syndrome with HLA-A3,B7 haplotype. ( 7452889 )	Carreras L...Alsina J	1981

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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	1353.93	Molecular basis known ⁵⁸ Causative germline mutation ⁶⁰ Causative variation ⁷⁶ Genetic Tests ³⁰ Susceptibility factor ⁵⁸ Risk factor ⁶ GeneCards inferred via : Disorders Variants (show sections)	15661753 17182750 7452889 (more) 20301541 19846853 19821824

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Variations for Hemolytic Uremic Syndrome, Atypical 4

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

⁷⁶

#	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
8	CFB	p.Lys533Arg	VAR_063664	rs149101394

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

⁶

#	Gene	Variation	Type	Significance	SNP ID	Assembly	Location
1	CFB	NM_001710.5(CFB): c.858C> G (p.Phe286Leu)	single nucleotide variant	risk factor	rs117905900	GRCh37	Chromosome 6, 31915819: 31915819
2	CFB	NM_001710.5(CFB): c.858C> G (p.Phe286Leu)	single nucleotide variant	risk factor	rs117905900	GRCh38	Chromosome 6, 31948042: 31948042
3	CFB	NM_001710.5(CFB): c.967A> G (p.Lys323Glu)	single nucleotide variant	risk factor	rs121909748	GRCh37	Chromosome 6, 31916220: 31916220
4	CFB	NM_001710.5(CFB): c.967A> G (p.Lys323Glu)	single nucleotide variant	risk factor	rs121909748	GRCh38	Chromosome 6, 31948443: 31948443
5	CFB	NM_001710.5(CFB): c.1407C> G (p.Ile469Met)	single nucleotide variant	Likely benign	rs201798809	GRCh37	Chromosome 6, 31917333: 31917333
6	CFB	NM_001710.5(CFB): c.1407C> G (p.Ile469Met)	single nucleotide variant	Likely benign	rs201798809	GRCh38	Chromosome 6, 31949556: 31949556
7	CFB	NM_001710.5(CFB): c.1217G> A (p.Arg406Gln)	single nucleotide variant	Uncertain significance	rs1057516209	GRCh38	Chromosome 6, 31949291: 31949291
8	CFB	NM_001710.5(CFB): c.1217G> A (p.Arg406Gln)	single nucleotide variant	Uncertain significance	rs1057516209	GRCh37	Chromosome 6, 31917068: 31917068
9	CFB	NM_001710.5(CFB): c.1861G> A (p.Glu621Lys)	single nucleotide variant	Uncertain significance	rs573842877	GRCh38	Chromosome 6, 31951149: 31951149
10	CFB	NM_001710.5(CFB): c.1861G> A (p.Glu621Lys)	single nucleotide variant	Uncertain significance	rs573842877	GRCh37	Chromosome 6, 31918926: 31918926

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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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⁷⁴ UMLS

⁷⁵ UMLS via Orphanet

⁷⁶ UniProtKB/Swiss-Prot

⁷⁷ 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

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

ClinVar 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