MCID: HML032
MIFTS: 22

Hemolytic Uremic Syndrome, Atypical 4

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



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

Related Diseases for Hemolytic Uremic Syndrome, Atypical 4

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

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

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

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 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 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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