AHUS4
MCID: HML032
MIFTS: 25

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 56
Hemolytic Uremic Syndrome, Atypical, Susceptibility to, 4 56 13
Atypical Hemolytic-Uremic Syndrome 4 29 6
Ahus4 56 73
Atypical Hemolytic Uremic Syndrome with B Factor Anomaly 73
Hemolytic-Uremic Syndrome, Atypical, Type 4 39
Hemolytic Uremic Syndrome Atypical 4 73
Ahus, Susceptibility to, 4 56
Ahus 4 56

Characteristics:

OMIM:

56
Inheritance:
autosomal dominant

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


HPO:

31
hemolytic uremic syndrome, atypical 4:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Hemolytic Uremic Syndrome, Atypical 4

UniProtKB/Swiss-Prot : 73 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 obsolete: 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 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

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

(showing 1, show less)
# Related Disease Score Top Affiliating Genes
1 obsolete: 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:

31 (showing 10, show less)
# Description HPO Frequency HPO Source Accession
1 hypertension 31 frequent (33%) HP:0000822
2 proteinuria 31 HP:0000093
3 hematuria 31 HP:0000790
4 thrombocytopenia 31 HP:0001873
5 elevated serum creatinine 31 HP:0003259
6 acute kidney injury 31 HP:0001919
7 microangiopathic hemolytic anemia 31 HP:0001937
8 increased blood urea nitrogen 31 HP:0003138
9 hemolytic-uremic syndrome 31 HP:0005575
10 anuria 31 HP:0100519

Symptoms via clinical synopsis from OMIM:

56
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:

40
Kidney

Publications for Hemolytic Uremic Syndrome, Atypical 4

Articles related to Hemolytic Uremic Syndrome, Atypical 4:

(showing 7, show less)
# Title Authors PMID Year
1
Gain-of-function mutations in complement factor B are associated with atypical hemolytic uremic syndrome. 56 6
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. 6 56
15661753 2005
3
Familial hypocomplementemic hemolytic uremic syndrome with HLA-A3,B7 haplotype. 6 56
7452889 1981
4
Clinical practice guidelines for the management of atypical haemolytic uraemic syndrome in the United Kingdom. 6
19821824 2010
5
Atypical hemolytic-uremic syndrome. 6
19846853 2009
6
Genetic Atypical Hemolytic-Uremic Syndrome 6
20301541 2007
7
Recurrent case of pregnancy-induced atypical haemolytic uremic syndrome (P-aHUS). 61
30659006 2019

Variations for Hemolytic Uremic Syndrome, Atypical 4

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

6 (showing 5, show less) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 CFB NM_001710.5(CFB):c.858C>G (p.Phe286Leu)SNV risk factor 16079 rs117905900 6:31915819-31915819 6:31948042-31948042
2 CFB NM_001710.5(CFB):c.967A>G (p.Lys323Glu)SNV risk factor 16080 rs121909748 6:31916220-31916220 6:31948443-31948443
3 CFB NM_001710.5(CFB):c.1217G>A (p.Arg406Gln)SNV Uncertain significance 369970 rs1057516209 6:31917068-31917068 6:31949291-31949291
4 CFB NM_001710.5(CFB):c.1861G>A (p.Glu621Lys)SNV Uncertain significance 369946 rs573842877 6:31918926-31918926 6:31951149-31951149
5 CFB NM_001710.5(CFB):c.1407C>G (p.Ile469Met)SNV Likely benign 356288 rs201798809 6:31917333-31917333 6:31949556-31949556

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

73 (showing 8, show less)
# 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 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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