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 ⁷⁵

Hemolytic-Uremic Syndrome Without Diarrhea with B Factor Anomaly ⁵⁹

Atypical Hemolytic-Uremic Syndrome with B Factor Anomaly ⁵⁹

Atypical Hemolytic Uremic Syndrome with B Factor Anomaly ⁷⁵

Hemolytic-Uremic Syndrome, Atypical, Type 4 ⁴⁰

Hemolytic Uremic Syndrome Atypical 4 ⁷⁵

Atypical Hus with B Factor Anomaly ⁵⁹

D-Hus with B Factor Anomaly ⁵⁹

Ahus, Susceptibility to, 4 ⁵⁷

Ahus with B Factor Anomaly ⁵⁹

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)

ICD10: ³⁴

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: ⁵⁹

Rare renal diseases

Rare haematological diseases

External Ids:

OMIM ⁵⁷ 612924

Orphanet ⁵⁹ ORPHA93578

ICD10 via Orphanet ³⁴ D58.8

MedGen ⁴² C2752038

MeSH ⁴⁴ D006463

SNOMED-CT via HPO ⁶⁹ 263681008 29738008 34436003 more

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Summaries for Hemolytic Uremic Syndrome, Atypical 4

UniProtKB/Swiss-Prot : ⁷⁵ 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 proteinuria and hematuria

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

Symptoms via clinical synopsis from OMIM:

⁵⁷

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

Human phenotypes related to Hemolytic Uremic Syndrome, Atypical 4:

³² (show all 10)

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

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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

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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	1354.12	Molecular basis known ⁵⁷ Causative germline mutation ⁵⁹ Causative variation ⁷⁵ Genetic Tests ²⁹ Susceptibility factor ⁵⁷ Risk factor ⁶ GeneCards inferred via : Disorders Variants (show sections)	20301541 19846853 19821824 (more) 15661753 17182750 7452889

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Variations for Hemolytic Uremic Syndrome, Atypical 4

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

⁷⁵

#	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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Sources for Hemolytic Uremic Syndrome, Atypical 4

¹ BioSystems

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³³ ICD10

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³⁵ ICD9CM

³⁶ IUPHAR

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³⁹ LncRNADisease

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⁴¹ MalaCards

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⁶⁸ SNOMED-CT

⁶⁹ SNOMED-CT via HPO

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⁷¹ TGDB

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⁷³ UMLS

⁷⁴ UMLS via Orphanet

⁷⁵ UniProtKB/Swiss-Prot

⁷⁶ Wikipedia