AHUS4
MCID: HML032
MIFTS: 24

Hemolytic Uremic Syndrome, Atypical 4 (AHUS4)

Categories: Blood diseases, Genetic diseases, Immune diseases, Nephrological diseases, Rare diseases

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:



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

Related Diseases for Hemolytic Uremic Syndrome, Atypical 4

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

Drugs & Therapeutics for Hemolytic Uremic Syndrome, Atypical 4

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

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

Anatomical Context for Hemolytic Uremic Syndrome, Atypical 4

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

42
Kidney

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 )
2010
2
Atypical hemolytic-uremic syndrome. ( 19846853 )
2009
3
Gain-of-function mutations in complement factor B are associated with atypical hemolytic uremic syndrome. ( 17182750 )
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 )
2005
5
Familial hypocomplementemic hemolytic uremic syndrome with HLA-A3,B7 haplotype. ( 7452889 )
1981

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

Expression for Hemolytic Uremic Syndrome, Atypical 4

Search GEO for disease gene expression data 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

3 CDC
7 CNVD
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10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
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31 HGMD
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35 ICD10 via Orphanet
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59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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