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 ⁵⁷

Hemolytic Uremic Syndrome, Atypical, Susceptibility to, 4 ⁵⁷ ¹³

Atypical Hemolytic-Uremic Syndrome 4 ²⁹ ⁶

Ahus4 ⁵⁷ ⁷⁴

Atypical Hemolytic Uremic Syndrome with B Factor Anomaly ⁷⁴

Hemolytic-Uremic Syndrome, Atypical, Type 4 ⁴⁰

Hemolytic Uremic Syndrome Atypical 4 ⁷⁴

Ahus, Susceptibility to, 4 ⁵⁷

Ahus 4 ⁵⁷

Characteristics:

OMIM:

⁵⁷

Inheritance:
autosomal dominant

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

HPO:

³²

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 ⁵⁷ 612924 PS235400

MeSH ⁴⁴ D006463

MedGen ⁴² C2752038

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Summaries for Hemolytic Uremic Syndrome, Atypical 4

UniProtKB/Swiss-Prot : ⁷⁴ 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, also known as hemolytic uremic syndrome, atypical, susceptibility to, 4, is related to atypical hemolytic uremic syndrome with b factor anomaly. 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 Atypical Hemolytic Uremic Syndrome with C3 Anomaly family:

Hemolytic Uremic Syndrome, Atypical 1	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

Diseases related to Hemolytic Uremic Syndrome, Atypical 4 via text searches within MalaCards or GeneCards Suite gene sharing:

#	Related Disease	Score	Top Affiliating Genes
1	atypical hemolytic uremic syndrome with b factor anomaly	12.8

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Symptoms & Phenotypes for Hemolytic Uremic Syndrome, Atypical 4

Human phenotypes related to Hemolytic Uremic Syndrome, Atypical 4:

³² (show all 10)

#	Description	HPO Frequency	HPO Source Accession
1	hypertension ³²	frequent (33%)	HP:0000822
2	proteinuria ³²		HP:0000093
3	hematuria ³²		HP:0000790
4	thrombocytopenia ³²		HP:0001873
5	elevated serum creatinine ³²		HP:0003259
6	acute kidney injury ³²		HP:0001919
7	microangiopathic hemolytic anemia ³²		HP:0001937
8	increased blood urea nitrogen ³²		HP:0003138
9	anuria ³²		HP:0100519
10	hemolytic-uremic syndrome ³²		HP:0005575

Symptoms via clinical synopsis from OMIM:

⁵⁷

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:

⁴¹

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. ⁸ ⁷¹	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. ⁸ ⁷¹	Esparza-Gordillo J...Rodriguez de Cordoba S	15661753	2005
3	Familial hypocomplementemic hemolytic uremic syndrome with HLA-A3,B7 haplotype. ⁸ ⁷¹	Carreras L...Alsina J	7452889	1981
4	Clinical practice guidelines for the management of atypical haemolytic uraemic syndrome in the United Kingdom. ⁷¹	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. ⁷¹	Noris M...Remuzzi G	19846853	2009
6	Genetic Atypical Hemolytic-Uremic Syndrome ⁷¹	Noris M...Remuzzi G	20301541	2007
7	Recurrent case of pregnancy-induced atypical haemolytic uremic syndrome (P-aHUS). ³⁸	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	1003.88	Molecular basis known ⁵⁷ Causative variation ⁷⁴ Genetic Tests ²⁹ Susceptibility factor ⁵⁷ Risk factor ⁶ GeneCards inferred via : Disorders Variants (show sections)	15661753 19846853 19821824 (more) 20301541 17182750 7452889

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Variations for Hemolytic Uremic Syndrome, Atypical 4

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

⁶

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

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

⁷⁴

#	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

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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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⁷² UMLS

⁷³ UMLS via Orphanet

⁷⁴ UniProtKB/Swiss-Prot

⁷⁵ 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 Atypical Hemolytic Uremic Syndrome with C3 Anomaly family:

Diseases related to Hemolytic Uremic Syndrome, Atypical 4 via text searches within MalaCards or GeneCards Suite gene sharing:

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