MCID: HML034
MIFTS: 22

Hemolytic Uremic Syndrome, Atypical 3

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

Aliases & Classifications for Hemolytic Uremic Syndrome, Atypical 3

MalaCards integrated aliases for Hemolytic Uremic Syndrome, Atypical 3:

Name: Hemolytic Uremic Syndrome, Atypical 3 57
Hemolytic Uremic Syndrome, Atypical, Susceptibility to, 3 57 13
Atypical Hemolytic-Uremic Syndrome 3 29 6
Ahus3 57 75
Hemolytic-Uremic Syndrome Without Diarrhea with I Factor Anomaly 59
Atypical Hemolytic-Uremic Syndrome with I Factor Anomaly 59
Atypical Hemolytic Uremic Syndrome with I Factor Anomaly 75
Hemolytic-Uremic Syndrome, Atypical, Type 3 40
Hemolytic Uremic Syndrome Atypical 3 75
Atypical Hus with I Factor Anomaly 59
D-Hus with I Factor Anomaly 59
Ahus, Susceptibility to, 3 57
Ahus with I Factor Anomaly 59
Ahus 3 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 3:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Hemolytic Uremic Syndrome, Atypical 3

UniProtKB/Swiss-Prot : 75 Hemolytic uremic syndrome atypical 3: 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 3, is also known as hemolytic uremic syndrome, atypical, susceptibility to, 3. An important gene associated with Hemolytic Uremic Syndrome, Atypical 3 is CFI (Complement Factor I). Affiliated tissues include kidney, and related phenotypes are hypertension and proteinuria

Description from OMIM: 612923

Related Diseases for Hemolytic Uremic Syndrome, Atypical 3

Symptoms & Phenotypes for Hemolytic Uremic Syndrome, Atypical 3

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:

612923

Human phenotypes related to Hemolytic Uremic Syndrome, Atypical 3:

32 (show all 10)
# Description HPO Frequency HPO Source Accession
1 hypertension 32 frequent (33%) HP:0000822
2 proteinuria 32 HP:0000093
3 thrombocytopenia 32 HP:0001873
4 hematuria 32 HP:0000790
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

Drugs & Therapeutics for Hemolytic Uremic Syndrome, Atypical 3

Search Clinical Trials , NIH Clinical Center for Hemolytic Uremic Syndrome, Atypical 3

Genetic Tests for Hemolytic Uremic Syndrome, Atypical 3

Genetic tests related to Hemolytic Uremic Syndrome, Atypical 3:

# Genetic test Affiliating Genes
1 Atypical Hemolytic-Uremic Syndrome 3 29 CFI

Anatomical Context for Hemolytic Uremic Syndrome, Atypical 3

MalaCards organs/tissues related to Hemolytic Uremic Syndrome, Atypical 3:

41
Kidney

Publications for Hemolytic Uremic Syndrome, Atypical 3

Variations for Hemolytic Uremic Syndrome, Atypical 3

UniProtKB/Swiss-Prot genetic disease variations for Hemolytic Uremic Syndrome, Atypical 3:

75
# Symbol AA change Variation ID SNP ID
1 CFI p.Ile340Thr VAR_030343 rs769419740
2 CFI p.Asp524Val VAR_030344 rs121964914
3 CFI p.Pro64Leu VAR_063665 rs773187287
4 CFI p.Gly119Arg VAR_063666 rs141853578
5 CFI p.His183Arg VAR_063667 rs75612300
6 CFI p.Gly287Arg VAR_063668 rs182078921
7 CFI p.Arg317Trp VAR_063669 rs121964917
8 CFI p.Ile416Leu VAR_063670 rs61733901
9 CFI p.Asp519Asn VAR_063671 rs121964918
10 CFI p.Lys522Thr VAR_063672

ClinVar genetic disease variations for Hemolytic Uremic Syndrome, Atypical 3:

6
(show all 14)
# Gene Variation Type Significance SNP ID Assembly Location
1 CFI NM_000204.4(CFI): c.1637G> A (p.Trp546Ter) single nucleotide variant risk factor rs121964915 GRCh38 Chromosome 4, 109741008: 109741008
2 CFI NM_000204.4(CFI): c.1420C> T (p.Arg474Ter) single nucleotide variant risk factor rs121964913 GRCh37 Chromosome 4, 110667387: 110667387
3 CFI NM_000204.4(CFI): c.1420C> T (p.Arg474Ter) single nucleotide variant risk factor rs121964913 GRCh38 Chromosome 4, 109746231: 109746231
4 CFI NM_000204.4(CFI): c.1571A> T (p.Asp524Val) single nucleotide variant risk factor rs121964914 GRCh37 Chromosome 4, 110662230: 110662230
5 CFI NM_000204.4(CFI): c.1571A> T (p.Asp524Val) single nucleotide variant risk factor rs121964914 GRCh38 Chromosome 4, 109741074: 109741074
6 CFI NM_000204.4(CFI): c.1637G> A (p.Trp546Ter) single nucleotide variant risk factor rs121964915 GRCh37 Chromosome 4, 110662164: 110662164
7 CFI NM_000204.4(CFI): c.949C> T (p.Arg317Trp) single nucleotide variant risk factor rs121964917 GRCh37 Chromosome 4, 110670750: 110670750
8 CFI NM_000204.4(CFI): c.949C> T (p.Arg317Trp) single nucleotide variant risk factor rs121964917 GRCh38 Chromosome 4, 109749594: 109749594
9 CFI NM_000204.4(CFI): c.1555G> A (p.Asp519Asn) single nucleotide variant risk factor rs121964918 GRCh37 Chromosome 4, 110662246: 110662246
10 CFI NM_000204.4(CFI): c.1555G> A (p.Asp519Asn) single nucleotide variant risk factor rs121964918 GRCh38 Chromosome 4, 109741090: 109741090
11 CFI NM_000204.4(CFI): c.1709G> C (p.Ser570Thr) single nucleotide variant Uncertain significance rs200973120 GRCh37 Chromosome 4, 110662092: 110662092
12 CFI NM_000204.4(CFI): c.1709G> C (p.Ser570Thr) single nucleotide variant Uncertain significance rs200973120 GRCh38 Chromosome 4, 109740936: 109740936
13 CFI NM_000204.4(CFI): c.310G> A (p.Gly104Arg) single nucleotide variant Likely pathogenic rs200419722 GRCh38 Chromosome 4, 109766572: 109766572
14 CFI NM_000204.4(CFI): c.310G> A (p.Gly104Arg) single nucleotide variant Likely pathogenic rs200419722 GRCh37 Chromosome 4, 110687728: 110687728

Expression for Hemolytic Uremic Syndrome, Atypical 3

Search GEO for disease gene expression data for Hemolytic Uremic Syndrome, Atypical 3.

Pathways for Hemolytic Uremic Syndrome, Atypical 3

GO Terms for Hemolytic Uremic Syndrome, Atypical 3

Sources for Hemolytic Uremic Syndrome, Atypical 3

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