AHUS4
MCID: HML032
MIFTS: 23

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 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:



External Ids:

MeSH 44 D006463
MedGen 42 C2752038

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

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

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

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 29 CFB

Anatomical Context for Hemolytic Uremic Syndrome, Atypical 4

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

41
Kidney

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
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
15661753 2005
3
Familial hypocomplementemic hemolytic uremic syndrome with HLA-A3,B7 haplotype. 8 71
7452889 1981
4
Clinical practice guidelines for the management of atypical haemolytic uraemic syndrome in the United Kingdom. 71
19821824 2010
5
Atypical hemolytic-uremic syndrome. 71
19846853 2009
6
Genetic Atypical Hemolytic-Uremic Syndrome 71
20301541 2007
7
Recurrent case of pregnancy-induced atypical haemolytic uremic syndrome (P-aHUS). 38
30659006 2019

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

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
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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