Atypical hemolytic uremic syndrome with H factor anomaly

General Information (adopted from Orphanet):

Synonyms, Signs: AHUS, SUSCEPTIBILITY TO, 1 HEMOLYTIC UREMIC SYNDROME, TYPICAL, INCLUDED
AHUS1
D-HUS with H factor anomaly
Atypical HUS with H factor anomaly
aHUS with H factor anomaly
Hemolytic-uremic syndrome without diarrhea with H factor anomaly
Number of Symptoms 30
OrphanetNr: 93579
OMIM Id: 235400
ICD-10: D58.8
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant inheritance
Autosomal recessive inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: Atypical hemolytic uremic syndrome
 -Rare genetic disease
 -Rare hematologic disease
 -Rare renal disease

Symptom Information: Sort by abundance 

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