Typical hemolytic uremic syndrome

General Information (adopted from Orphanet):

Synonyms, Signs: AHUS, SUSCEPTIBILITY TO, 1 HEMOLYTIC UREMIC SYNDROME, TYPICAL, INCLUDED
D+HUS
AHUS1
Shiga-like toxin-associated HUS
Typical HUS
Sxt-HUS
Hemolytic-uremic syndrome with diarrhea
Number of Symptoms 30
OrphanetNr: 90038
OMIM Id: 235400
ICD-10: D59.3
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Not applicable
[Orphanet]
Age of onset: All ages
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Rare acquired hemolytic anemia
 -Rare hematologic disease
Thrombotic microangiopathy
 -Rare renal disease

Symptom Information: Sort by abundance 

1
(HPO:0001919) Acute kidney injury 21 / 7739
2
(HPO:0100519) Anuria 20 / 7739
3
(HPO:0100543) Cognitive impairment 230 / 7739
4
(HPO:0001250) Seizures 1245 / 7739
5
(HPO:0001259) Coma 65 / 7739
6
(HPO:0002357) Dysphasia 33 / 7739
7
(HPO:0001269) Hemiparesis 51 / 7739
8
(HPO:0000822) Hypertension 224 / 7739
9
(HPO:0001923) Reticulocytosis 28 / 7739
10
(HPO:0001981) Schistocytosis 7 / 7739
11
(HPO:0001873) Thrombocytopenia 224 / 7739
12
(HPO:0001937) Microangiopathic hemolytic anemia 12 / 7739
13
(HPO:0001903) Anemia 289 / 7739
14
(HPO:0003138) Increased blood urea nitrogen 14 / 7739
15
(HPO:0003259) Elevated serum creatinine 31 / 7739
16
(HPO:0003077) Hyperlipidemia 37 / 7739
17
(HPO:0005416) Decreased serum complement factor B 6 / 7739
18
(HPO:0005421) Decreased serum complement C3 9 / 7739
19
(OMIM) Global and focal neurologic abnormalities (less than 30%) 3 / 7739
20
(OMIM) 'Burr cells' 4 / 7739
21
(OMIM) Activation of the complement system 3 / 7739
22
(OMIM) Some patients may have autoantibodies to factor H, resulting in functional factor H deficiency 3 / 7739
23
(OMIM) Defective complement regulation 8 / 7739
24
(OMIM) Decreased serum factor I (atypical HUS) 3 / 7739
25
(MedDRA:10043645) Thrombotic microangiopathy 11 / 7739
26
(OMIM) Complement component consumption 3 / 7739
27
(OMIM) Visual defects 4 / 7739
28
(OMIM) Normal activity of von Willebrand factor-cleaving protease 3 / 7739
29
(OMIM) Decreased serum factor H (atypical HUS) 3 / 7739
30
(OMIM) Prodrome of gastroenteric diarrhea, usually caused by E. coli 0157-H7 or shigella in young children (typical HUS) 3 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Typical hemolytic uremic syndrome is characterized by acute renal failure, thrombocytopenia, and microangiopathic hemolytic anemia associated with distorted erythrocytes ('burr cells'). The vast majority of cases (90%) are sporadic, occur in children under 3 years of age, and ...
Clinical Description OMIM Hagge et al. (1967) reported the hemolytic uremic syndrome in 2 sibs. Features included intravascular hemolysis, thrombocytopenia, and azotemia. One had repeated attacks ending in renal failure and death at age 8 years; the other recovered completely after ...
Molecular genetics OMIM In affected members of a large family with autosomal dominant aHUS originally reported by Edelsten and Tuck (1978), Goodship et al. (1997) and Warwicker et al. (1998) identified a heterozygous mutation in the CFH gene (134370.0001). Although none ...
Population genetics OMIM - Typical Hemolytic Uremic Syndrome

Gianantonio et al. (1968) observed 75 cases of HUS in Argentina, where the disorder seems unusually frequent, and assembled some evidence for viral etiology. Endemic areas included Argentina, South Africa, the ...